Name

Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS from the curated CTD Gene-Disease Associations dataset.

antley-bixler syndrome with genital anomalies and disordered steroidogenesis Gene Set

From OMIM Gene-Disease Associations

genes associated with the antley-bixler syndrome with genital anomalies and disordered steroidogenesis phenotype from the curated OMIM Gene-Disease Associations dataset.

ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS from the curated CTD Gene-Disease Associations dataset.

antley-bixler syndrome without genital anomalies or disordered steroidogenesis Gene Set

From OMIM Gene-Disease Associations

genes associated with the antley-bixler syndrome without genital anomalies or disordered steroidogenesis phenotype from the curated OMIM Gene-Disease Associations dataset.

Antley-Bixler Syndrome Phenotype Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Antley-Bixler Syndrome Phenotype from the curated CTD Gene-Disease Associations dataset.

antley-bixler syndrome Gene Set

From DISEASES Curated Gene-Disease Assocation Evidence Scores

genes involed in the disease antley-bixler syndrome from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.

antley-bixler syndrome Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

genes co-occuring with the disease antley-bixler syndrome in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

Disordered steroidogenesis due to cytochrome p450 oxidoreductase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Disordered steroidogenesis due to cytochrome p450 oxidoreductase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

disordered steroidogenesis due to cytochrome p450 oxidoreductase Gene Set

From OMIM Gene-Disease Associations

genes associated with the disordered steroidogenesis due to cytochrome p450 oxidoreductase phenotype from the curated OMIM Gene-Disease Associations dataset.

Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Chondrodysplasia, acromesomelic, with genital anomalies Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Chondrodysplasia, acromesomelic, with genital anomalies from the curated CTD Gene-Disease Associations dataset.

chrondrodysplasia, acromesomelic, with genital anomalies Gene Set

From OMIM Gene-Disease Associations

genes associated with the chrondrodysplasia, acromesomelic, with genital anomalies phenotype from the curated OMIM Gene-Disease Associations dataset.

craniosynostosis with radiohumeral fusions and other skeletal and craniofacial anomalies Gene Set

From OMIM Gene-Disease Associations

genes associated with the craniosynostosis with radiohumeral fusions and other skeletal and craniofacial anomalies phenotype from the curated OMIM Gene-Disease Associations dataset.

steroidogenesisantleybixler Gene Set

From GeneRIF Biological Term Annotations

genes co-occuring with the biological term steroidogenesisantleybixler in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset.

steroidogenesis Gene Set

From GeneRIF Biological Term Annotations

genes co-occuring with the biological term steroidogenesis in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset.

Craniofacial anomalies and anterior segment dysgenesis syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Craniofacial anomalies and anterior segment dysgenesis syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Wilms Tumor, Aniridia, Genitourinary Anomalies, Mental Retardation, and Obesity Syndrome Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Wilms Tumor, Aniridia, Genitourinary Anomalies, Mental Retardation, and Obesity Syndrome from the curated CTD Gene-Disease Associations dataset.

craniofacial anomalies and anterior segment dysgenesis syndrome Gene Set

From OMIM Gene-Disease Associations

genes associated with the craniofacial anomalies and anterior segment dysgenesis syndrome phenotype from the curated OMIM Gene-Disease Associations dataset.

craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome Gene Set

From OMIM Gene-Disease Associations

genes associated with the craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome phenotype from the curated OMIM Gene-Disease Associations dataset.

wilms tumor, aniridia, genitourinary anomalies and mental retardation syndrome Gene Set

From OMIM Gene-Disease Associations

genes associated with the wilms tumor, aniridia, genitourinary anomalies and mental retardation syndrome phenotype from the curated OMIM Gene-Disease Associations dataset.

disordered eating symptoms Gene Set

From GAD Gene-Disease Associations

genes associated with the disease disordered eating symptoms in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

sleep-disordered breathing Gene Set

From GAD Gene-Disease Associations

genes associated with the disease sleep-disordered breathing in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

disordered Gene Set

From GeneRIF Biological Term Annotations

genes co-occuring with the biological term disordered in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset.

Skeletal defects, genital hypoplasia, and mental retardation Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Skeletal defects, genital hypoplasia, and mental retardation phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Skeletal Defects, Genital Hypoplasia, And Mental Retardation Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Skeletal Defects, Genital Hypoplasia, And Mental Retardation from the curated CTD Gene-Disease Associations dataset.

skeletal defects, genital hypoplasia, and mental retardation Gene Set

From OMIM Gene-Disease Associations

genes associated with the skeletal defects, genital hypoplasia, and mental retardation phenotype from the curated OMIM Gene-Disease Associations dataset.

breast neoplasms; chromosome breakage; colorectal neoplasms; genital neoplasms, female; mammary neoplasms; neoplasms; nijmegen breakage syndrome; stomach neoplasms Gene Set

From GAD Gene-Disease Associations

genes associated with the disease breast neoplasms; chromosome breakage; colorectal neoplasms; genital neoplasms, female; mammary neoplasms; neoplasms; nijmegen breakage syndrome; stomach neoplasms in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

Microcephaly with mental retardation and digital anomalies Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Microcephaly with mental retardation and digital anomalies phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A10 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A10 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A12 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A12 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A7 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A7 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A6 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A6 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A8 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A8 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A14 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A14 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A5 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A5 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Craniosynostosis and dental anomalies Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Craniosynostosis and dental anomalies phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Aplasia cutis congenita, reticulolinear, with microcephaly, facial dysmorphism, and other congenital anomalies Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Aplasia cutis congenita, reticulolinear, with microcephaly, facial dysmorphism, and other congenital anomalies phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Craniosynostosis, anal anomalies, and porokeratosis Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Craniosynostosis, anal anomalies, and porokeratosis from the curated CTD Gene-Disease Associations dataset.

Bifid Nose With Or Without Anorectal And Renal Anomalies Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Bifid Nose With Or Without Anorectal And Renal Anomalies from the curated CTD Gene-Disease Associations dataset.

MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 2 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 2 from the curated CTD Gene-Disease Associations dataset.

MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 6 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 6 from the curated CTD Gene-Disease Associations dataset.

MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 5 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 5 from the curated CTD Gene-Disease Associations dataset.

MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 4 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 4 from the curated CTD Gene-Disease Associations dataset.

Microcephaly with Mental Retardation and Digital Anomalies Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Microcephaly with Mental Retardation and Digital Anomalies from the curated CTD Gene-Disease Associations dataset.

pituitary anomalies and holoprosencephaly-like features. Gene Set

From GAD Gene-Disease Associations

genes associated with the disease pituitary anomalies and holoprosencephaly-like features. in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 2 Gene Set

From OMIM Gene-Disease Associations

genes associated with the muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 2 phenotype from the curated OMIM Gene-Disease Associations dataset.

muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 3 Gene Set

From OMIM Gene-Disease Associations

genes associated with the muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 3 phenotype from the curated OMIM Gene-Disease Associations dataset.

muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1 Gene Set

From OMIM Gene-Disease Associations

genes associated with the muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1 phenotype from the curated OMIM Gene-Disease Associations dataset.

muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 6 Gene Set

From OMIM Gene-Disease Associations

genes associated with the muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 6 phenotype from the curated OMIM Gene-Disease Associations dataset.

muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 7 Gene Set

From OMIM Gene-Disease Associations

genes associated with the muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 7 phenotype from the curated OMIM Gene-Disease Associations dataset.

muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 4 Gene Set

From OMIM Gene-Disease Associations

genes associated with the muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 4 phenotype from the curated OMIM Gene-Disease Associations dataset.

muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 5 Gene Set

From OMIM Gene-Disease Associations

genes associated with the muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 5 phenotype from the curated OMIM Gene-Disease Associations dataset.

robin sequence with cleft mandible and limb anomalies Gene Set

From OMIM Gene-Disease Associations

genes associated with the robin sequence with cleft mandible and limb anomalies phenotype from the curated OMIM Gene-Disease Associations dataset.

muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12 Gene Set

From OMIM Gene-Disease Associations

genes associated with the muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12 phenotype from the curated OMIM Gene-Disease Associations dataset.

muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 13 Gene Set

From OMIM Gene-Disease Associations

genes associated with the muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 13 phenotype from the curated OMIM Gene-Disease Associations dataset.

muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type a, 11 Gene Set

From OMIM Gene-Disease Associations

genes associated with the muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type a, 11 phenotype from the curated OMIM Gene-Disease Associations dataset.

{congenital anomalies of kidney and urinary tract, susceptibility to} Gene Set

From OMIM Gene-Disease Associations

genes associated with the {congenital anomalies of kidney and urinary tract, susceptibility to} phenotype from the curated OMIM Gene-Disease Associations dataset.

craniosynostosis and dental anomalies Gene Set

From OMIM Gene-Disease Associations

genes associated with the craniosynostosis and dental anomalies phenotype from the curated OMIM Gene-Disease Associations dataset.

muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type a, 8 Gene Set

From OMIM Gene-Disease Associations

genes associated with the muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type a, 8 phenotype from the curated OMIM Gene-Disease Associations dataset.

muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 14 Gene Set

From OMIM Gene-Disease Associations

genes associated with the muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 14 phenotype from the curated OMIM Gene-Disease Associations dataset.

corneal opacification and other ocular anomalies Gene Set

From OMIM Gene-Disease Associations

genes associated with the corneal opacification and other ocular anomalies phenotype from the curated OMIM Gene-Disease Associations dataset.

aplasia cutis congenita, reticulolinear, with mmicrocephaly, facial dysmorphism and other congenital anomalies Gene Set

From OMIM Gene-Disease Associations

genes associated with the aplasia cutis congenita, reticulolinear, with mmicrocephaly, facial dysmorphism and other congenital anomalies phenotype from the curated OMIM Gene-Disease Associations dataset.

bifid nose with or without anorectal and renal anomalies Gene Set

From OMIM Gene-Disease Associations

genes associated with the bifid nose with or without anorectal and renal anomalies phenotype from the curated OMIM Gene-Disease Associations dataset.

muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 10 Gene Set

From OMIM Gene-Disease Associations

genes associated with the muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 10 phenotype from the curated OMIM Gene-Disease Associations dataset.

Defective CYP26B1 causes Radiohumeral fusions with other skeletal and craniofacial anomalies (RHFCA) Gene Set

From Reactome Pathways

proteins participating in the Defective CYP26B1 causes Radiohumeral fusions with other skeletal and craniofacial anomalies (RHFCA) pathway from the Reactome Pathways dataset.

Multiple congenital anomalies-hypotonia-seizures syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Multiple congenital anomalies-hypotonia-seizures syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Saethre-Chotzen syndrome with eyelid anomalies Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Saethre-Chotzen syndrome with eyelid anomalies phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Immunodeficiency-centromeric instability-facial anomalies syndrome 2 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Immunodeficiency-centromeric instability-facial anomalies syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Multiple congenital anomalies-hypotonia-seizures syndrome 2 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Multiple congenital anomalies-hypotonia-seizures syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Multiple congenital anomalies-hypotonia-seizures syndrome 3 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Multiple congenital anomalies-hypotonia-seizures syndrome 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 1 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 1 from the curated CTD Gene-Disease Associations dataset.

Saethre-Chotzen Syndrome with Eyelid Anomalies Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Saethre-Chotzen Syndrome with Eyelid Anomalies from the curated CTD Gene-Disease Associations dataset.

coronary vessel anomalies; mucocutaneous lymph node syndrome Gene Set

From GAD Gene-Disease Associations

genes associated with the disease coronary vessel anomalies; mucocutaneous lymph node syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

immunodeficiency-centromeric instability-facial anomalies syndrome-2 Gene Set

From OMIM Gene-Disease Associations

genes associated with the immunodeficiency-centromeric instability-facial anomalies syndrome-2 phenotype from the curated OMIM Gene-Disease Associations dataset.

saethre-chotzen syndrome with eyelid anomalies Gene Set

From OMIM Gene-Disease Associations

genes associated with the saethre-chotzen syndrome with eyelid anomalies phenotype from the curated OMIM Gene-Disease Associations dataset.

?multiple congenital anomalies-hypotonia-seizures syndrome 3 Gene Set

From OMIM Gene-Disease Associations

genes associated with the ?multiple congenital anomalies-hypotonia-seizures syndrome 3 phenotype from the curated OMIM Gene-Disease Associations dataset.

multiple congenital anomalies-hypotonia-seizures syndrome 1 Gene Set

From OMIM Gene-Disease Associations

genes associated with the multiple congenital anomalies-hypotonia-seizures syndrome 1 phenotype from the curated OMIM Gene-Disease Associations dataset.

multiple congenital anomalies-hypotonia-seizures syndrome 2 Gene Set

From OMIM Gene-Disease Associations

genes associated with the multiple congenital anomalies-hypotonia-seizures syndrome 2 phenotype from the curated OMIM Gene-Disease Associations dataset.

immunodeficiency-centromeric instability-facial anomalies syndrome 1 Gene Set

From OMIM Gene-Disease Associations

genes associated with the immunodeficiency-centromeric instability-facial anomalies syndrome 1 phenotype from the curated OMIM Gene-Disease Associations dataset.

digeorge syndrome; pharyngeal pouch; syndrome; velo-cardio-facial syndrome; 22q11 deletion syndrome Gene Set

From GAD Gene-Disease Associations

genes associated with the disease digeorge syndrome; pharyngeal pouch; syndrome; velo-cardio-facial syndrome; 22q11 deletion syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

Genital Neoplasms, Female Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Genital Neoplasms, Female from the curated CTD Gene-Disease Associations dataset.

Genital Diseases, Male Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Genital Diseases, Male from the curated CTD Gene-Disease Associations dataset.

Genital Diseases, Female Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Genital Diseases, Female from the curated CTD Gene-Disease Associations dataset.

genital herpes Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

genes co-occuring with the disease genital herpes in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

prolapse of female genital organ Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

genes co-occuring with the disease prolapse of female genital organ in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

carcinoma, squamous cell; condylomata acuminata; epidermodysplasia verruciformis; squamous cell carcinoma; tumor virus infections; warts, genital Gene Set

From GAD Gene-Disease Associations

genes associated with the disease carcinoma, squamous cell; condylomata acuminata; epidermodysplasia verruciformis; squamous cell carcinoma; tumor virus infections; warts, genital in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

colorectal neoplasms; colorectal neoplasms, hereditary nonpolyposis; genital neoplasms, female; neoplasms Gene Set

From GAD Gene-Disease Associations

genes associated with the disease colorectal neoplasms; colorectal neoplasms, hereditary nonpolyposis; genital neoplasms, female; neoplasms in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

chlamydia infections; genital diseases, female Gene Set

From GAD Gene-Disease Associations

genes associated with the disease chlamydia infections; genital diseases, female in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

genital herpes; herpes genitalis Gene Set

From GAD Gene-Disease Associations

genes associated with the disease genital herpes; herpes genitalis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

chlamydia infections; genital diseases, female; infertility, female; inflammation Gene Set

From GAD Gene-Disease Associations

genes associated with the disease chlamydia infections; genital diseases, female; infertility, female; inflammation in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

genital herpes; herpes genitalis; stomatitis, herpetic Gene Set

From GAD Gene-Disease Associations

genes associated with the disease genital herpes; herpes genitalis; stomatitis, herpetic in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

genital diseases, female Gene Set

From GAD Gene-Disease Associations

genes associated with the disease genital diseases, female in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

genital neoplasms, female Gene Set

From GAD Gene-Disease Associations

genes associated with the disease genital neoplasms, female in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

breast neoplasms; cardiovascular diseases; genital neoplasms, female; hip fractures; mammary neoplasms; neoplasms; neoplasms, prostatic; prostatic neoplasms Gene Set

From GAD Gene-Disease Associations

genes associated with the disease breast neoplasms; cardiovascular diseases; genital neoplasms, female; hip fractures; mammary neoplasms; neoplasms; neoplasms, prostatic; prostatic neoplasms in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

genital Gene Set

From GeneRIF Biological Term Annotations

genes co-occuring with the biological term genital in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset.

Puberty onset (genital enlargement) Gene Set

From GWAS Catalog SNP-Phenotype Associations

genes associated with the Puberty onset (genital enlargement) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations dataset.

prolapse of female genital organ Gene Set

From GWASdb SNP-Disease Associations

genes associated with the disease prolapse of female genital organ in GWAS and other genetic association datasets from the GWASdb SNP-Disease Associations dataset.

genital neoplasm Gene Set

From GWASdb SNP-Phenotype Associations

genes associated with the genital neoplasm phenotype in GWAS datasets from the GWASdb SNP-Phenotype Associations dataset.

abnormal genital system morphology Gene Set

From GWASdb SNP-Phenotype Associations

genes associated with the abnormal genital system morphology phenotype in GWAS datasets from the GWASdb SNP-Phenotype Associations dataset.

abnormality of the genital system Gene Set

From GWASdb SNP-Phenotype Associations

genes associated with the abnormality of the genital system phenotype in GWAS datasets from the GWASdb SNP-Phenotype Associations dataset.

genital hernia Gene Set

From HPO Gene-Disease Associations

genes associated with the genital hernia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

abnormal genital system morphology Gene Set

From HPO Gene-Disease Associations

genes associated with the abnormal genital system morphology phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

genital tract atresia Gene Set

From HPO Gene-Disease Associations

genes associated with the genital tract atresia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

abnormality of the genital system Gene Set

From HPO Gene-Disease Associations

genes associated with the abnormality of the genital system phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

genital neoplasm Gene Set

From HPO Gene-Disease Associations

genes associated with the genital neoplasm phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

external genital hypoplasia Gene Set

From HPO Gene-Disease Associations

genes associated with the external genital hypoplasia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

genital ulcers Gene Set

From HPO Gene-Disease Associations

genes associated with the genital ulcers phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Genital Neoplasms, Male Gene Set

From HuGE Navigator Gene-Phenotype Associations

genes associated with the Genital Neoplasms, Male phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset.

Genital Neoplasms, Female Gene Set

From HuGE Navigator Gene-Phenotype Associations

genes associated with the Genital Neoplasms, Female phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset.

Genital Diseases, Male Gene Set

From HuGE Navigator Gene-Phenotype Associations

genes associated with the Genital Diseases, Male phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset.

Genital Diseases, Female Gene Set

From HuGE Navigator Gene-Phenotype Associations

genes associated with the Genital Diseases, Female phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset.

genital hemorrhage Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the genital hemorrhage phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

genital tubercle hypoplasia Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the genital tubercle hypoplasia phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

abnormal genital tubercle morphology Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the abnormal genital tubercle morphology phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

internal male genital organ Gene Set

From TISSUES Curated Tissue Protein Expression Evidence Scores

proteins highly expressed in the tissue internal male genital organ from the TISSUES Curated Tissue Protein Expression Evidence Scores dataset.

external male genital organ Gene Set

From TISSUES Curated Tissue Protein Expression Evidence Scores

proteins highly expressed in the tissue external male genital organ from the TISSUES Curated Tissue Protein Expression Evidence Scores dataset.

internal female genital organ Gene Set

From TISSUES Curated Tissue Protein Expression Evidence Scores

proteins highly expressed in the tissue internal female genital organ from the TISSUES Curated Tissue Protein Expression Evidence Scores dataset.

external female genital organ Gene Set

From TISSUES Curated Tissue Protein Expression Evidence Scores

proteins highly expressed in the tissue external female genital organ from the TISSUES Curated Tissue Protein Expression Evidence Scores dataset.

internal male genital organ Gene Set

From TISSUES Experimental Tissue Protein Expression Evidence Scores

proteins highly expressed in the tissue internal male genital organ in proteomics datasets from the TISSUES Experimental Tissue Protein Expression Evidence Scores dataset.

internal female genital organ Gene Set

From TISSUES Experimental Tissue Protein Expression Evidence Scores

proteins highly expressed in the tissue internal female genital organ in proteomics datasets from the TISSUES Experimental Tissue Protein Expression Evidence Scores dataset.

genital chamber Gene Set

From TISSUES Text-mining Tissue Protein Expression Evidence Scores

proteins co-occuring with the tissue genital chamber in abstracts of biomedical publications from the TISSUES Text-mining Tissue Protein Expression Evidence Scores dataset.

external male genital organ Gene Set

From TISSUES Text-mining Tissue Protein Expression Evidence Scores

proteins co-occuring with the tissue external male genital organ in abstracts of biomedical publications from the TISSUES Text-mining Tissue Protein Expression Evidence Scores dataset.

internal female genital organ Gene Set

From TISSUES Text-mining Tissue Protein Expression Evidence Scores

proteins co-occuring with the tissue internal female genital organ in abstracts of biomedical publications from the TISSUES Text-mining Tissue Protein Expression Evidence Scores dataset.

genital mucosa Gene Set

From TISSUES Text-mining Tissue Protein Expression Evidence Scores

proteins co-occuring with the tissue genital mucosa in abstracts of biomedical publications from the TISSUES Text-mining Tissue Protein Expression Evidence Scores dataset.

genital primordium Gene Set

From TISSUES Text-mining Tissue Protein Expression Evidence Scores

proteins co-occuring with the tissue genital primordium in abstracts of biomedical publications from the TISSUES Text-mining Tissue Protein Expression Evidence Scores dataset.

genital pore Gene Set

From TISSUES Text-mining Tissue Protein Expression Evidence Scores

proteins co-occuring with the tissue genital pore in abstracts of biomedical publications from the TISSUES Text-mining Tissue Protein Expression Evidence Scores dataset.

internal male genital organ Gene Set

From TISSUES Text-mining Tissue Protein Expression Evidence Scores

proteins co-occuring with the tissue internal male genital organ in abstracts of biomedical publications from the TISSUES Text-mining Tissue Protein Expression Evidence Scores dataset.

external female genital organ Gene Set

From TISSUES Text-mining Tissue Protein Expression Evidence Scores

proteins co-occuring with the tissue external female genital organ in abstracts of biomedical publications from the TISSUES Text-mining Tissue Protein Expression Evidence Scores dataset.

Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds Gene Set

From Reactome Pathways

proteins participating in the Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds pathway from the Reactome Pathways dataset.

Sacral agenesis with vertebral anomalies Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Sacral agenesis with vertebral anomalies phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Testicular anomalies with or without congenital heart disease Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Testicular anomalies with or without congenital heart disease phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Growth hormone deficiency with pituitary anomalies Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Growth hormone deficiency with pituitary anomalies phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Anophthalmos with limb anomalies Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Anophthalmos with limb anomalies phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Cavitary Optic Disc Anomalies Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Cavitary Optic Disc Anomalies from the curated CTD Gene-Disease Associations dataset.

Heterotopia, Periventricular, associated with Chromosome 5p Anomalies Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Heterotopia, Periventricular, associated with Chromosome 5p Anomalies from the curated CTD Gene-Disease Associations dataset.

Coronary Vessel Anomalies Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Coronary Vessel Anomalies from the curated CTD Gene-Disease Associations dataset.

cardiomyopathy; heart anomalies, congenital Gene Set

From GAD Gene-Disease Associations

genes associated with the disease cardiomyopathy; heart anomalies, congenital in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

heart anomalies, congenital Gene Set

From GAD Gene-Disease Associations

genes associated with the disease heart anomalies, congenital in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

congenital anomalies Gene Set

From GAD Gene-Disease Associations

genes associated with the disease congenital anomalies in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

congenital anomalies; cleft lip with or without cleft palate Gene Set

From GAD Gene-Disease Associations

genes associated with the disease congenital anomalies; cleft lip with or without cleft palate in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

congenital anomalies; renal disease Gene Set

From GAD Gene-Disease Associations

genes associated with the disease congenital anomalies; renal disease in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

heart anomalies, congenital; pulmonary hypertension Gene Set

From GAD Gene-Disease Associations

genes associated with the disease heart anomalies, congenital; pulmonary hypertension in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

thromboembolism, venous; heart anomalies, congenital; neural tube defects; cleft lip with cleft palate; cleft lip without cleft palate; omphalocele Gene Set

From GAD Gene-Disease Associations

genes associated with the disease thromboembolism, venous; heart anomalies, congenital; neural tube defects; cleft lip with cleft palate; cleft lip without cleft palate; omphalocele in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

heart anomalies, congenital; cleft lip with cleft palate; cleft lip without cleft palate Gene Set

From GAD Gene-Disease Associations

genes associated with the disease heart anomalies, congenital; cleft lip with cleft palate; cleft lip without cleft palate in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

anomalies Gene Set

From GeneRIF Biological Term Annotations

genes co-occuring with the biological term anomalies in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset.

pigmentation anomalies of sun-exposed skin Gene Set

From HPO Gene-Disease Associations

genes associated with the pigmentation anomalies of sun-exposed skin phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

multiple skeletal anomalies Gene Set

From HPO Gene-Disease Associations

genes associated with the multiple skeletal anomalies phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Coronary Vessel Anomalies Gene Set

From HuGE Navigator Gene-Phenotype Associations

genes associated with the Coronary Vessel Anomalies phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset.

brain small vessel disease with or without ocular anomalies Gene Set

From OMIM Gene-Disease Associations

genes associated with the brain small vessel disease with or without ocular anomalies phenotype from the curated OMIM Gene-Disease Associations dataset.

rieger or axenfeld anomalies Gene Set

From OMIM Gene-Disease Associations

genes associated with the rieger or axenfeld anomalies phenotype from the curated OMIM Gene-Disease Associations dataset.

microphthalmia with limb anomalies Gene Set

From OMIM Gene-Disease Associations

genes associated with the microphthalmia with limb anomalies phenotype from the curated OMIM Gene-Disease Associations dataset.

?testicular anomalies with or without congenital heart disease Gene Set

From OMIM Gene-Disease Associations

genes associated with the ?testicular anomalies with or without congenital heart disease phenotype from the curated OMIM Gene-Disease Associations dataset.

synpolydactyly with foot anomalies Gene Set

From OMIM Gene-Disease Associations

genes associated with the synpolydactyly with foot anomalies phenotype from the curated OMIM Gene-Disease Associations dataset.

cavitary optic disc anomalies Gene Set

From OMIM Gene-Disease Associations

genes associated with the cavitary optic disc anomalies phenotype from the curated OMIM Gene-Disease Associations dataset.

sacral agenesis with vertebral anomalies Gene Set

From OMIM Gene-Disease Associations

genes associated with the sacral agenesis with vertebral anomalies phenotype from the curated OMIM Gene-Disease Associations dataset.

growth hormone deficiency with pituitary anomalies Gene Set

From OMIM Gene-Disease Associations

genes associated with the growth hormone deficiency with pituitary anomalies phenotype from the curated OMIM Gene-Disease Associations dataset.

cleidocranial dysplasia, forme fruste, dental anomalies only Gene Set

From OMIM Gene-Disease Associations

genes associated with the cleidocranial dysplasia, forme fruste, dental anomalies only phenotype from the curated OMIM Gene-Disease Associations dataset.

anterior segment anomalies with or without cataract Gene Set

From OMIM Gene-Disease Associations

genes associated with the anterior segment anomalies with or without cataract phenotype from the curated OMIM Gene-Disease Associations dataset.

Noonan syndrome and Noonan-related syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Noonan syndrome and Noonan-related syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

adult respiratory distress syndrome; respiratory distress syndrome, adult; sepsis; systemic infection; wounds and injuries Gene Set

From GAD Gene-Disease Associations

genes associated with the disease adult respiratory distress syndrome; respiratory distress syndrome, adult; sepsis; systemic infection; wounds and injuries in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

adult respiratory distress syndrome; multiple organ failure; respiratory distress syndrome, adult; wounds and injuries Gene Set

From GAD Gene-Disease Associations

genes associated with the disease adult respiratory distress syndrome; multiple organ failure; respiratory distress syndrome, adult; wounds and injuries in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

Lynch syndrome:Lynch syndrome:Lynch syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Lynch syndrome:Lynch syndrome:Lynch syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

fatigue syndrome, chronic; fatigue syndrome; postviral; persian gulf syndrome Gene Set

From GAD Gene-Disease Associations

genes associated with the disease fatigue syndrome, chronic; fatigue syndrome; postviral; persian gulf syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

nocturnal myoclonus syndrome; restless legs syndrome; tourette syndrome Gene Set

From GAD Gene-Disease Associations

genes associated with the disease nocturnal myoclonus syndrome; restless legs syndrome; tourette syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

meconium aspiration syndrome; resp distress syndrome neonatal; respiratory distress syndrome, newborn; sleep disorders Gene Set

From GAD Gene-Disease Associations

genes associated with the disease meconium aspiration syndrome; resp distress syndrome neonatal; respiratory distress syndrome, newborn; sleep disorders in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

adult respiratory distress syndrome; respiratory distress syndrome, adult; severe acute respiratory syndrome Gene Set

From GAD Gene-Disease Associations

genes associated with the disease adult respiratory distress syndrome; respiratory distress syndrome, adult; severe acute respiratory syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

insulin resistance; metabolic syndrome x; polycystic ovarian syndrome; polycystic ovary syndrome Gene Set

From GAD Gene-Disease Associations

genes associated with the disease insulin resistance; metabolic syndrome x; polycystic ovarian syndrome; polycystic ovary syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

basic mechanism of action of ppara pparb(d) and pparg and effects on gene expression Gene Set

From Biocarta Pathways

proteins participating in the basic mechanism of action of ppara pparb(d) and pparg and effects on gene expression pathway from the Biocarta Pathways dataset.

BRCA1 and BRCA2 Hereditary Breast and Ovarian Cancer Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the BRCA1 and BRCA2 Hereditary Breast and Ovarian Cancer phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Coloboma, uveal, with cleft lip and palate and mental retardation Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Coloboma, uveal, with cleft lip and palate and mental retardation phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Hypomyelination with brainstem and spinal cord involvement and leg spasticity Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Hypomyelination with brainstem and spinal cord involvement and leg spasticity phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Growth and mental retardation, mandibulofacial dysostosis, microcephaly, and cleft palate Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Growth and mental retardation, mandibulofacial dysostosis, microcephaly, and cleft palate phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Mental retardation and microcephaly with pontine and cerebellar hypoplasia Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Mental retardation and microcephaly with pontine and cerebellar hypoplasia phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Diabetes mellitus AND insipidus with optic atrophy AND deafness Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Diabetes mellitus AND insipidus with optic atrophy AND deafness phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

TRICHOTHIODYSTROPHY, PHOTOSENSITIVE;TTDP ICHTHYOSIFORM ERYTHRODERMA WITH HAIR ABNORMALITY AND MENTAL AND GROWTH Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease TRICHOTHIODYSTROPHY, PHOTOSENSITIVE;TTDP ICHTHYOSIFORM ERYTHRODERMA WITH HAIR ABNORMALITY AND MENTAL AND GROWTH from the curated CTD Gene-Disease Associations dataset.

Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation from the curated CTD Gene-Disease Associations dataset.

Congenital, Hereditary, and Neonatal Diseases and Abnormalities Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities from the curated CTD Gene-Disease Associations dataset.

Mental Retardation And Microcephaly With Pontine And Cerebellar Hypoplasia Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Mental Retardation And Microcephaly With Pontine And Cerebellar Hypoplasia from the curated CTD Gene-Disease Associations dataset.

Neuropathy, Hereditary Sensory And Autonomic, Type I, With Cough And Gastroesophageal Reflux Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Neuropathy, Hereditary Sensory And Autonomic, Type I, With Cough And Gastroesophageal Reflux from the curated CTD Gene-Disease Associations dataset.

Toe Syndactyly, Telecanthus, and Anogenital and Renal Malformations Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Toe Syndactyly, Telecanthus, and Anogenital and Renal Malformations from the curated CTD Gene-Disease Associations dataset.

postheparin plasma lipase activities body fat and plasma lipid and lipoprotein concentrations Gene Set

From GAD Gene-Disease Associations

genes associated with the disease postheparin plasma lipase activities body fat and plasma lipid and lipoprotein concentrations in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

anxiety and hostility and depression Gene Set

From GAD Gene-Disease Associations

genes associated with the disease anxiety and hostility and depression in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

charcot-marie-tooth disease; hereditary motor and sensory neuropathies; hereditary sensory and motor neuropathy Gene Set

From GAD Gene-Disease Associations

genes associated with the disease charcot-marie-tooth disease; hereditary motor and sensory neuropathies; hereditary sensory and motor neuropathy in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

frontotemporal dementia and pick-like 3r and 4r tauopathy Gene Set

From GAD Gene-Disease Associations

genes associated with the disease frontotemporal dementia and pick-like 3r and 4r tauopathy in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

adipose tissue lipoprotein lipase activity and lipoprotein lipid and glucose concentrations Gene Set

From GAD Gene-Disease Associations

genes associated with the disease adipose tissue lipoprotein lipase activity and lipoprotein lipid and glucose concentrations in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

squamous cell carcinomas of the head and neck (scchn) and breast cancer Gene Set

From GAD Gene-Disease Associations

genes associated with the disease squamous cell carcinomas of the head and neck (scchn) and breast cancer in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

vitamins and metabolites in pregnant women and neonates Gene Set

From GAD Gene-Disease Associations

genes associated with the disease vitamins and metabolites in pregnant women and neonates in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

racemase and epimerase activity, acting on amino acids and derivatives Gene Set

From GO Molecular Function Annotations

genes performing the racemase and epimerase activity, acting on amino acids and derivatives molecular function from the curated GO Molecular Function Annotations dataset.

racemase and epimerase activity, acting on carbohydrates and derivatives Gene Set

From GO Molecular Function Annotations

genes performing the racemase and epimerase activity, acting on carbohydrates and derivatives molecular function from the curated GO Molecular Function Annotations dataset.

leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation Gene Set

From OMIM Gene-Disease Associations

genes associated with the leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation phenotype from the curated OMIM Gene-Disease Associations dataset.

microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma Gene Set

From OMIM Gene-Disease Associations

genes associated with the microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma phenotype from the curated OMIM Gene-Disease Associations dataset.

hypomyelination with brainstem and spinal cord involvement and leg spasticity Gene Set

From OMIM Gene-Disease Associations

genes associated with the hypomyelination with brainstem and spinal cord involvement and leg spasticity phenotype from the curated OMIM Gene-Disease Associations dataset.

microcephaly, mental retardation, and distinctive facies, with cardiac and genitourinary malformations Gene Set

From OMIM Gene-Disease Associations

genes associated with the microcephaly, mental retardation, and distinctive facies, with cardiac and genitourinary malformations phenotype from the curated OMIM Gene-Disease Associations dataset.

mental retardation and microcephaly with pontine and cerebellar hypoplasia Gene Set

From OMIM Gene-Disease Associations

genes associated with the mental retardation and microcephaly with pontine and cerebellar hypoplasia phenotype from the curated OMIM Gene-Disease Associations dataset.

microcephaly, progressive, seizures, and cerebral and cerebellar atrophy Gene Set

From OMIM Gene-Disease Associations

genes associated with the microcephaly, progressive, seizures, and cerebral and cerebellar atrophy phenotype from the curated OMIM Gene-Disease Associations dataset.

Activation of the mRNA upon binding of the cap-binding complex and eIFs, and subsequent binding to 43S Gene Set

From Reactome Pathways

proteins participating in the Activation of the mRNA upon binding of the cap-binding complex and eIFs, and subsequent binding to 43S pathway from the Reactome Pathways dataset.

Cooperation of Prefoldin and TriC/CCT in actin and tubulin folding Gene Set

From Reactome Pathways

proteins participating in the Cooperation of Prefoldin and TriC/CCT in actin and tubulin folding pathway from the Reactome Pathways dataset.

PI and PC transport between ER and Golgi membranes Gene Set

From Reactome Pathways

proteins participating in the PI and PC transport between ER and Golgi membranes pathway from the Reactome Pathways dataset.

Orexin and neuropeptides FF and QRFP bind to their respective receptors Gene Set

From Reactome Pathways

proteins participating in the Orexin and neuropeptides FF and QRFP bind to their respective receptors pathway from the Reactome Pathways dataset.

FGFR1c and Klotho ligand binding and activation Gene Set

From Reactome Pathways

proteins participating in the FGFR1c and Klotho ligand binding and activation pathway from the Reactome Pathways dataset.

Transport of nucleosides and free purine and pyrimidine bases across the plasma membrane Gene Set

From Reactome Pathways

proteins participating in the Transport of nucleosides and free purine and pyrimidine bases across the plasma membrane pathway from the Reactome Pathways dataset.

Synthesis and processing of ENV and VPU Gene Set

From Reactome Pathways

proteins participating in the Synthesis and processing of ENV and VPU pathway from the Reactome Pathways dataset.

Synthesis and interconversion of nucleotide di- and triphosphates Gene Set

From Reactome Pathways

proteins participating in the Synthesis and interconversion of nucleotide di- and triphosphates pathway from the Reactome Pathways dataset.

SREBF and miR33 in cholesterol and lipid homeostasis(Homo sapiens) Gene Set

From Wikipathways Pathways

proteins participating in the SREBF and miR33 in cholesterol and lipid homeostasis(Homo sapiens) pathway from the Wikipathways Pathways dataset.

SREBF and miR33 in cholesterol and lipid homeostasis(Mus musculus) Gene Set

From Wikipathways Pathways

proteins participating in the SREBF and miR33 in cholesterol and lipid homeostasis(Mus musculus) pathway from the Wikipathways Pathways dataset.

SRF and miRs in Smooth Muscle Differentiation and Proliferation(Homo sapiens) Gene Set

From Wikipathways Pathways

proteins participating in the SRF and miRs in Smooth Muscle Differentiation and Proliferation(Homo sapiens) pathway from the Wikipathways Pathways dataset.

visceral fat deposits and the metabolic syndrome Gene Set

From Biocarta Pathways

proteins participating in the visceral fat deposits and the metabolic syndrome pathway from the Biocarta Pathways dataset.

Retinal dystrophy, juvenile cataracts, and short stature syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Retinal dystrophy, juvenile cataracts, and short stature syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Foveal hypoplasia and presenile cataract syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Foveal hypoplasia and presenile cataract syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Myasthenic syndrome, congenital, with pre- and postsynaptic defects Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Myasthenic syndrome, congenital, with pre- and postsynaptic defects phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Rigidity and multifocal seizure syndrome, lethal neonatal Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Rigidity and multifocal seizure syndrome, lethal neonatal phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Alopecia, neurologic defects, and endocrinopathy syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Alopecia, neurologic defects, and endocrinopathy syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Knuckle pads, deafness AND leukonychia syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Knuckle pads, deafness AND leukonychia syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Jervell and Lange-Nielsen syndrome 2 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Jervell and Lange-Nielsen syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Microcephaly, epilepsy, and diabetes syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Microcephaly, epilepsy, and diabetes syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Microcephaly, hiatal hernia and nephrotic syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Microcephaly, hiatal hernia and nephrotic syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Jervell and Lange-Nielsen syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Jervell and Lange-Nielsen syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Cutis Gyrata syndrome of Beare and Stevenson Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Cutis Gyrata syndrome of Beare and Stevenson phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Alacrima, achalasia, and mental retardation syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Alacrima, achalasia, and mental retardation syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 3 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Cutaneous telangiectasia and cancer syndrome, familial Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Cutaneous telangiectasia and cancer syndrome, familial phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Pineal hyperplasia AND diabetes mellitus syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Pineal hyperplasia AND diabetes mellitus syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Camptodactyly, tall stature, and hearing loss syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Camptodactyly, tall stature, and hearing loss syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Retinal dystrophy, iris coloboma, and comedogenic acne syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Retinal dystrophy, iris coloboma, and comedogenic acne syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome from the curated CTD Gene-Disease Associations dataset.

Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, and Hirschsprung Disease Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, and Hirschsprung Disease from the curated CTD Gene-Disease Associations dataset.

Keratitis, Ichthyosis, and Deafness (KID) Syndrome Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Keratitis, Ichthyosis, and Deafness (KID) Syndrome from the curated CTD Gene-Disease Associations dataset.

Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 3 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 3 from the curated CTD Gene-Disease Associations dataset.

Cutis Gyrata Syndrome of Beare And Stevenson Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Cutis Gyrata Syndrome of Beare And Stevenson from the curated CTD Gene-Disease Associations dataset.

Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1 from the curated CTD Gene-Disease Associations dataset.

Hereditary Breast and Ovarian Cancer Syndrome Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Hereditary Breast and Ovarian Cancer Syndrome from the curated CTD Gene-Disease Associations dataset.

Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 2 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 2 from the curated CTD Gene-Disease Associations dataset.

Sarcoma family syndrome of Li and Fraumeni Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Sarcoma family syndrome of Li and Fraumeni from the curated CTD Gene-Disease Associations dataset.

Alport Syndrome, Mental Retardation, Midface Hypoplasia, and Elliptocytosis Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Alport Syndrome, Mental Retardation, Midface Hypoplasia, and Elliptocytosis from the curated CTD Gene-Disease Associations dataset.

Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/Palate Syndrome 3 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/Palate Syndrome 3 from the curated CTD Gene-Disease Associations dataset.

Jervell And Lange-Nielsen Syndrome 2 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Jervell And Lange-Nielsen Syndrome 2 from the curated CTD Gene-Disease Associations dataset.

Alopecia, Neurologic Defects, and Endocrinopathy Syndrome Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Alopecia, Neurologic Defects, and Endocrinopathy Syndrome from the curated CTD Gene-Disease Associations dataset.

Renal cysts and diabetes syndrome Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Renal cysts and diabetes syndrome from the curated CTD Gene-Disease Associations dataset.

blepharophimosis, ptosis, and epicanthus inversus syndrome Gene Set

From DISEASES Curated Gene-Disease Assocation Evidence Scores

genes involed in the disease blepharophimosis, ptosis, and epicanthus inversus syndrome from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.

tooth and nail syndrome Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

genes co-occuring with the disease tooth and nail syndrome in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

blepharophimosis, ptosis, and epicanthus inversus syndrome Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

genes co-occuring with the disease blepharophimosis, ptosis, and epicanthus inversus syndrome in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

hyper-ige syndrome and severe eczema. atopy Gene Set

From GAD Gene-Disease Associations

genes associated with the disease hyper-ige syndrome and severe eczema. atopy in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

psoriasis, psoriatic arthritis, and sapho syndrome Gene Set

From GAD Gene-Disease Associations

genes associated with the disease psoriasis, psoriatic arthritis, and sapho syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

jervell and lange-nielsen syndrome Gene Set

From GAD Gene-Disease Associations

genes associated with the disease jervell and lange-nielsen syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

hyper-igm syndrome can form oligomers and trigger cd40-mediated signals Gene Set

From GAD Gene-Disease Associations

genes associated with the disease hyper-igm syndrome can form oligomers and trigger cd40-mediated signals in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

leigh syndrome and cytochrome c oxidase deficiency Gene Set

From GAD Gene-Disease Associations

genes associated with the disease leigh syndrome and cytochrome c oxidase deficiency in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

complete androgen insensitivity syndrome and sertoli cell adenoma Gene Set

From GAD Gene-Disease Associations

genes associated with the disease complete androgen insensitivity syndrome and sertoli cell adenoma in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

metabolic syndrome and electrocardiographic coronary artery disease Gene Set

From GAD Gene-Disease Associations

genes associated with the disease metabolic syndrome and electrocardiographic coronary artery disease in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

critical illness; respiratory distress syndrome, adult; wounds and injuries Gene Set

From GAD Gene-Disease Associations

genes associated with the disease critical illness; respiratory distress syndrome, adult; wounds and injuries in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

systemic inflammatory response syndrome; wounds and injuries Gene Set

From GAD Gene-Disease Associations

genes associated with the disease systemic inflammatory response syndrome; wounds and injuries in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

elevated liver enzymes and metabolic syndrome Gene Set

From GAD Gene-Disease Associations

genes associated with the disease elevated liver enzymes and metabolic syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

tic; combined vocal and multiple motor; tourette syndrome Gene Set

From GAD Gene-Disease Associations

genes associated with the disease tic; combined vocal and multiple motor; tourette syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

li-fraumeni and related syndrome Gene Set

From GAD Gene-Disease Associations

genes associated with the disease li-fraumeni and related syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

Stevens-Johnson syndrome and toxic epidermal necrolysis (SJS-TEN) Gene Set

From GWAS Catalog SNP-Phenotype Associations

genes associated with the Stevens-Johnson syndrome and toxic epidermal necrolysis (SJS-TEN) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations dataset.

myasthenic syndrome, congenital, associated with facial dysmorphism and acetylcholine receptor deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the myasthenic syndrome, congenital, associated with facial dysmorphism and acetylcholine receptor deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

jervell and lange-nielsen syndrome 2 Gene Set

From OMIM Gene-Disease Associations

genes associated with the jervell and lange-nielsen syndrome 2 phenotype from the curated OMIM Gene-Disease Associations dataset.

lymphedema-distichiasis syndrome with renal disease and diabetes mellitus Gene Set

From OMIM Gene-Disease Associations

genes associated with the lymphedema-distichiasis syndrome with renal disease and diabetes mellitus phenotype from the curated OMIM Gene-Disease Associations dataset.

melanoma and neural system tumor syndrome Gene Set

From OMIM Gene-Disease Associations

genes associated with the melanoma and neural system tumor syndrome phenotype from the curated OMIM Gene-Disease Associations dataset.

renal cysts and diabetes syndrome Gene Set

From OMIM Gene-Disease Associations

genes associated with the renal cysts and diabetes syndrome phenotype from the curated OMIM Gene-Disease Associations dataset.

alacrima, achalasia, and mental retardation syndrome Gene Set

From OMIM Gene-Disease Associations

genes associated with the alacrima, achalasia, and mental retardation syndrome phenotype from the curated OMIM Gene-Disease Associations dataset.

ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 Gene Set

From OMIM Gene-Disease Associations

genes associated with the ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 phenotype from the curated OMIM Gene-Disease Associations dataset.

rigidity and multifocal seizure syndrome, lethal neonatal Gene Set

From OMIM Gene-Disease Associations

genes associated with the rigidity and multifocal seizure syndrome, lethal neonatal phenotype from the curated OMIM Gene-Disease Associations dataset.

myelodysplasia and leukemia syndrome with monosomy 7 Gene Set

From OMIM Gene-Disease Associations

genes associated with the myelodysplasia and leukemia syndrome with monosomy 7 phenotype from the curated OMIM Gene-Disease Associations dataset.

mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome Gene Set

From OMIM Gene-Disease Associations

genes associated with the mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome phenotype from the curated OMIM Gene-Disease Associations dataset.

aicardi-goutieres syndrome 1, dominant and recessive Gene Set

From OMIM Gene-Disease Associations

genes associated with the aicardi-goutieres syndrome 1, dominant and recessive phenotype from the curated OMIM Gene-Disease Associations dataset.

?cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4 Gene Set

From OMIM Gene-Disease Associations

genes associated with the ?cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4 phenotype from the curated OMIM Gene-Disease Associations dataset.

cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2 Gene Set

From OMIM Gene-Disease Associations

genes associated with the cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2 phenotype from the curated OMIM Gene-Disease Associations dataset.

proliferative vasculopathy and hydraencephaly-hydrocephaly syndrome Gene Set

From OMIM Gene-Disease Associations

genes associated with the proliferative vasculopathy and hydraencephaly-hydrocephaly syndrome phenotype from the curated OMIM Gene-Disease Associations dataset.

?retinal dystrophy, juvenile cataracts, and short stature syndrome Gene Set

From OMIM Gene-Disease Associations

genes associated with the ?retinal dystrophy, juvenile cataracts, and short stature syndrome phenotype from the curated OMIM Gene-Disease Associations dataset.

retinol dystrophy, iris coloboma, and comedogenic acne syndrome Gene Set

From OMIM Gene-Disease Associations

genes associated with the retinol dystrophy, iris coloboma, and comedogenic acne syndrome phenotype from the curated OMIM Gene-Disease Associations dataset.

interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital Gene Set

From OMIM Gene-Disease Associations

genes associated with the interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital phenotype from the curated OMIM Gene-Disease Associations dataset.

ehlers-danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss Gene Set

From OMIM Gene-Disease Associations

genes associated with the ehlers-danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss phenotype from the curated OMIM Gene-Disease Associations dataset.

microcephaly, epilepsy, and diabetes syndrome Gene Set

From OMIM Gene-Disease Associations

genes associated with the microcephaly, epilepsy, and diabetes syndrome phenotype from the curated OMIM Gene-Disease Associations dataset.

3-methylglutaconic aciduria with deafness, encephalopathy, and leigh-like syndrome Gene Set

From OMIM Gene-Disease Associations

genes associated with the 3-methylglutaconic aciduria with deafness, encephalopathy, and leigh-like syndrome phenotype from the curated OMIM Gene-Disease Associations dataset.

jervell and lange-nielsen syndrome Gene Set

From OMIM Gene-Disease Associations

genes associated with the jervell and lange-nielsen syndrome phenotype from the curated OMIM Gene-Disease Associations dataset.

myasthenic syndrome, congenital, with pre- and postsynaptic defects Gene Set

From OMIM Gene-Disease Associations

genes associated with the myasthenic syndrome, congenital, with pre- and postsynaptic defects phenotype from the curated OMIM Gene-Disease Associations dataset.

autoinflammation, antibody deficiency, and immune dysregulation syndrome Gene Set

From OMIM Gene-Disease Associations

genes associated with the autoinflammation, antibody deficiency, and immune dysregulation syndrome phenotype from the curated OMIM Gene-Disease Associations dataset.

alopecia, neurologic defects, and endocrinopathy syndrome Gene Set

From OMIM Gene-Disease Associations

genes associated with the alopecia, neurologic defects, and endocrinopathy syndrome phenotype from the curated OMIM Gene-Disease Associations dataset.

cutaneous telangiectasia and cancer syndrome, familial Gene Set

From OMIM Gene-Disease Associations

genes associated with the cutaneous telangiectasia and cancer syndrome, familial phenotype from the curated OMIM Gene-Disease Associations dataset.

mitochondrial recessive ataxia syndrome (includes sando and scae) Gene Set

From OMIM Gene-Disease Associations

genes associated with the mitochondrial recessive ataxia syndrome (includes sando and scae) phenotype from the curated OMIM Gene-Disease Associations dataset.

cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome Gene Set

From OMIM Gene-Disease Associations

genes associated with the cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome phenotype from the curated OMIM Gene-Disease Associations dataset.

autoinflammation, lipodystrophy, and dermatosis syndrome Gene Set

From OMIM Gene-Disease Associations

genes associated with the autoinflammation, lipodystrophy, and dermatosis syndrome phenotype from the curated OMIM Gene-Disease Associations dataset.

alport syndrome, mental retardation, midface hypoplasia, and elliptocytosis Gene Set

From OMIM Gene-Disease Associations

genes associated with the alport syndrome, mental retardation, midface hypoplasia, and elliptocytosis phenotype from the curated OMIM Gene-Disease Associations dataset.

?partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome Gene Set

From OMIM Gene-Disease Associations

genes associated with the ?partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome phenotype from the curated OMIM Gene-Disease Associations dataset.

Lynch syndrome:Turcot syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Lynch syndrome:Turcot syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Hereditary cancer-predisposing syndrome:Lynch syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Hereditary cancer-predisposing syndrome:Lynch syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Zunich neuroectodermal syndrome:Zunich neuroectodermal syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Zunich neuroectodermal syndrome:Zunich neuroectodermal syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Von Hippel-Lindau syndrome:Hereditary cancer-predisposing syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Von Hippel-Lindau syndrome:Hereditary cancer-predisposing syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Lynch syndrome:Hereditary cancer-predisposing syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Lynch syndrome:Hereditary cancer-predisposing syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Lynch syndrome:Lynch syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Lynch syndrome:Lynch syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Marfan's syndrome:Marfan's syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Marfan's syndrome:Marfan's syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Hereditary cancer-predisposing syndrome:Peutz-Jeghers syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Hereditary cancer-predisposing syndrome:Peutz-Jeghers syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

IFAP syndrome with or without BRESHECK syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the IFAP syndrome with or without BRESHECK syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Lynch syndrome I:Lynch syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Lynch syndrome I:Lynch syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Hereditary cancer-predisposing syndrome:Hereditary cancer-predisposing syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Hereditary cancer-predisposing syndrome:Hereditary cancer-predisposing syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Miller-McKusick-Malvaux-Syndrome (3M Syndrome) Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Miller-McKusick-Malvaux-Syndrome (3M Syndrome) from the curated CTD Gene-Disease Associations dataset.

Digeorge Syndrome/Velocardiofacial Syndrome Complex 2 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Digeorge Syndrome/Velocardiofacial Syndrome Complex 2 from the curated CTD Gene-Disease Associations dataset.

menarch; natural menopause; obesity; pof - premature ovarian failure; polycystic ovarian syndrome; polycystic ovary syndrome; primary ovarian insufficiency; puberty, delayed; puberty, precocious Gene Set

From GAD Gene-Disease Associations

genes associated with the disease menarch; natural menopause; obesity; pof - premature ovarian failure; polycystic ovarian syndrome; polycystic ovary syndrome; primary ovarian insufficiency; puberty, delayed; puberty, precocious in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

amyloidosis; behcet syndrome; familial mediterranean fever; irritable bowel syndrome Gene Set

From GAD Gene-Disease Associations

genes associated with the disease amyloidosis; behcet syndrome; familial mediterranean fever; irritable bowel syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

chromosome aberrations; chromosome abnormality; cystic fibrosis; klinefelter syndrome; klinefelter's syndrome; oligospermia; sex chromosome aberrations; translocation, genetic Gene Set

From GAD Gene-Disease Associations

genes associated with the disease chromosome aberrations; chromosome abnormality; cystic fibrosis; klinefelter syndrome; klinefelter's syndrome; oligospermia; sex chromosome aberrations; translocation, genetic in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

hyperhomocysteinemia; polycystic ovarian syndrome; polycystic ovary syndrome Gene Set

From GAD Gene-Disease Associations

genes associated with the disease hyperhomocysteinemia; polycystic ovarian syndrome; polycystic ovary syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

cornelia de lange syndrome; de lange syndrome Gene Set

From GAD Gene-Disease Associations

genes associated with the disease cornelia de lange syndrome; de lange syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

fatigue syndrome, chronic; fatigue syndrome; postviral Gene Set

From GAD Gene-Disease Associations

genes associated with the disease fatigue syndrome, chronic; fatigue syndrome; postviral in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

pof - premature ovarian failure; polycystic ovarian syndrome; polycystic ovary syndrome; primary ovarian insufficiency Gene Set

From GAD Gene-Disease Associations

genes associated with the disease pof - premature ovarian failure; polycystic ovarian syndrome; polycystic ovary syndrome; primary ovarian insufficiency in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

abnormalities, multiple; aortic aneurysm, thoracic; marfan syndrome; syndrome Gene Set

From GAD Gene-Disease Associations

genes associated with the disease abnormalities, multiple; aortic aneurysm, thoracic; marfan syndrome; syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

resp distress syndrome neonatal; respiratory distress syndrome, newborn Gene Set

From GAD Gene-Disease Associations

genes associated with the disease resp distress syndrome neonatal; respiratory distress syndrome, newborn in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

obstetric labor, premature; resp distress syndrome neonatal; respiratory distress syndrome, newborn; tachycardia Gene Set

From GAD Gene-Disease Associations

genes associated with the disease obstetric labor, premature; resp distress syndrome neonatal; respiratory distress syndrome, newborn; tachycardia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

hyperandrogenism; polycystic ovarian syndrome; polycystic ovary syndrome; puberty, precocious Gene Set

From GAD Gene-Disease Associations

genes associated with the disease hyperandrogenism; polycystic ovarian syndrome; polycystic ovary syndrome; puberty, precocious in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

bronchopulmonary dysplasia; resp distress syndrome neonatal; respiratory distress syndrome, newborn; respiratory tract infections Gene Set

From GAD Gene-Disease Associations

genes associated with the disease bronchopulmonary dysplasia; resp distress syndrome neonatal; respiratory distress syndrome, newborn; respiratory tract infections in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

lung diseases; resp distress syndrome neonatal; respiratory distress syndrome, newborn Gene Set

From GAD Gene-Disease Associations

genes associated with the disease lung diseases; resp distress syndrome neonatal; respiratory distress syndrome, newborn in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

hyperandrogenism; insulin resistance; obesity; polycystic ovarian syndrome; polycystic ovary syndrome; thinness Gene Set

From GAD Gene-Disease Associations

genes associated with the disease hyperandrogenism; insulin resistance; obesity; polycystic ovarian syndrome; polycystic ovary syndrome; thinness in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

restless legs syndrome; tourette syndrome Gene Set

From GAD Gene-Disease Associations

genes associated with the disease restless legs syndrome; tourette syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

endometriosis; infertility, female; polycystic ovarian syndrome; polycystic ovary syndrome Gene Set

From GAD Gene-Disease Associations

genes associated with the disease endometriosis; infertility, female; polycystic ovarian syndrome; polycystic ovary syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

polycystic ovarian syndrome; polycystic ovary syndrome Gene Set

From GAD Gene-Disease Associations

genes associated with the disease polycystic ovarian syndrome; polycystic ovary syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

obesity; natural menopause; pof - premature ovarian failure; polycystic ovarian syndrome; polycystic ovary syndrome; primary ovarian insufficiency; puberty, delayed; puberty, precocious; thrombophilia; tobacco use disorder Gene Set

From GAD Gene-Disease Associations

genes associated with the disease obesity; natural menopause; pof - premature ovarian failure; polycystic ovarian syndrome; polycystic ovary syndrome; primary ovarian insufficiency; puberty, delayed; puberty, precocious; thrombophilia; tobacco use disorder in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

fetal alcohol syndrome; syndrome; fetal, alcohol (dysmorphic) Gene Set

From GAD Gene-Disease Associations

genes associated with the disease fetal alcohol syndrome; syndrome; fetal, alcohol (dysmorphic) in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

behcet syndrome; uveomeningoencephalitic syndrome Gene Set

From GAD Gene-Disease Associations

genes associated with the disease behcet syndrome; uveomeningoencephalitic syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

hyperandrogenism; hyperinsulinism; insulin resistance; polycystic ovarian syndrome; polycystic ovary syndrome Gene Set

From GAD Gene-Disease Associations

genes associated with the disease hyperandrogenism; hyperinsulinism; insulin resistance; polycystic ovarian syndrome; polycystic ovary syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

autoimmune thyroiditis; helicobacter infections; thyroiditis, autoimmune; turner syndrome; xo syndrome Gene Set

From GAD Gene-Disease Associations

genes associated with the disease autoimmune thyroiditis; helicobacter infections; thyroiditis, autoimmune; turner syndrome; xo syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

infertility, female; insulin resistance; polycystic ovarian syndrome; polycystic ovary syndrome Gene Set

From GAD Gene-Disease Associations

genes associated with the disease infertility, female; insulin resistance; polycystic ovarian syndrome; polycystic ovary syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

autoimmune diseases; chromosome aberrations; chromosome abnormality; turner syndrome; xo syndrome Gene Set

From GAD Gene-Disease Associations

genes associated with the disease autoimmune diseases; chromosome aberrations; chromosome abnormality; turner syndrome; xo syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

melas syndrome; merrf syndrome Gene Set

From GAD Gene-Disease Associations

genes associated with the disease melas syndrome; merrf syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

haemolytic-uraemic syndrome; hemolytic-uremic syndrome; recurrence Gene Set

From GAD Gene-Disease Associations

genes associated with the disease haemolytic-uraemic syndrome; hemolytic-uremic syndrome; recurrence in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

natural menopause; obesity; pof - premature ovarian failure; polycystic ovarian syndrome; polycystic ovary syndrome; primary ovarian insufficiency; puberty, delayed; puberty, precocious; thrombophilia; tobacco use disorder Gene Set

From GAD Gene-Disease Associations

genes associated with the disease natural menopause; obesity; pof - premature ovarian failure; polycystic ovarian syndrome; polycystic ovary syndrome; primary ovarian insufficiency; puberty, delayed; puberty, precocious; thrombophilia; tobacco use disorder in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

infertility; polycystic ovarian syndrome; polycystic ovary syndrome Gene Set

From GAD Gene-Disease Associations

genes associated with the disease infertility; polycystic ovarian syndrome; polycystic ovary syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

abnormalities, multiple; genetic diseases, inborn; kallmann syndrome; syndrome Gene Set

From GAD Gene-Disease Associations

genes associated with the disease abnormalities, multiple; genetic diseases, inborn; kallmann syndrome; syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

angelman syndrome; rett syndrome; seizures Gene Set

From GAD Gene-Disease Associations

genes associated with the disease angelman syndrome; rett syndrome; seizures in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

arthritis; carpal tunnel syndrome; cryoglobulinemia; hepatitis c, chronic; sjogren's syndrome; thyroiditis, autoimmune Gene Set

From GAD Gene-Disease Associations

genes associated with the disease arthritis; carpal tunnel syndrome; cryoglobulinemia; hepatitis c, chronic; sjogren's syndrome; thyroiditis, autoimmune in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

glucose intolerance; polycystic ovarian syndrome; polycystic ovary syndrome Gene Set

From GAD Gene-Disease Associations

genes associated with the disease glucose intolerance; polycystic ovarian syndrome; polycystic ovary syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

escherichia coli infections; haemolytic-uraemic syndrome; hemolytic-uremic syndrome Gene Set

From GAD Gene-Disease Associations

genes associated with the disease escherichia coli infections; haemolytic-uraemic syndrome; hemolytic-uremic syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

adult respiratory distress syndrome; respiratory distress syndrome, adult Gene Set

From GAD Gene-Disease Associations

genes associated with the disease adult respiratory distress syndrome; respiratory distress syndrome, adult in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

digeorge syndrome; memory disorders; pharyngeal pouch; syndrome Gene Set

From GAD Gene-Disease Associations

genes associated with the disease digeorge syndrome; memory disorders; pharyngeal pouch; syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

adult respiratory distress syndrome; chromosome deletion; respiratory distress syndrome, adult Gene Set

From GAD Gene-Disease Associations

genes associated with the disease adult respiratory distress syndrome; chromosome deletion; respiratory distress syndrome, adult in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

abnormalities, multiple; heart defects, congenital; leopard syndrome; noonan syndrome; skin abnormalities Gene Set

From GAD Gene-Disease Associations

genes associated with the disease abnormalities, multiple; heart defects, congenital; leopard syndrome; noonan syndrome; skin abnormalities in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

insulin resistance; polycystic ovarian syndrome; polycystic ovary syndrome Gene Set

From GAD Gene-Disease Associations

genes associated with the disease insulin resistance; polycystic ovarian syndrome; polycystic ovary syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

cardiomyopathy, hypertrophic; hypertrophic cardiomyopathy; noonan syndrome; pulmonary valve stenosis; syndrome; turner's phenotype, karyotype normal Gene Set

From GAD Gene-Disease Associations

genes associated with the disease cardiomyopathy, hypertrophic; hypertrophic cardiomyopathy; noonan syndrome; pulmonary valve stenosis; syndrome; turner's phenotype, karyotype normal in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

chronic renal failure; haemolytic-uraemic syndrome; hemolytic-uremic syndrome; kidney failure, chronic Gene Set

From GAD Gene-Disease Associations

genes associated with the disease chronic renal failure; haemolytic-uraemic syndrome; hemolytic-uremic syndrome; kidney failure, chronic in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

metabolic syndrome ; metabolic syndrome Gene Set

From GAD Gene-Disease Associations

genes associated with the disease metabolic syndrome ; metabolic syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

obesity; polycystic ovarian syndrome; polycystic ovary syndrome Gene Set

From GAD Gene-Disease Associations

genes associated with the disease obesity; polycystic ovarian syndrome; polycystic ovary syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

digeorge syndrome; pharyngeal pouch; syndrome Gene Set

From GAD Gene-Disease Associations

genes associated with the disease digeorge syndrome; pharyngeal pouch; syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

fatigue; fatigue syndrome, chronic; fatigue syndrome; postviral Gene Set

From GAD Gene-Disease Associations

genes associated with the disease fatigue; fatigue syndrome, chronic; fatigue syndrome; postviral in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

haemolytic-uraemic syndrome; hemolytic-uremic syndrome Gene Set

From GAD Gene-Disease Associations

genes associated with the disease haemolytic-uraemic syndrome; hemolytic-uremic syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

abnormalities, multiple; congenital heart defects; craniofacial abnormalities; ectodermal dysplasia; heart defects, congenital; noonan syndrome; syndrome; turner's phenotype, karyotype normal Gene Set

From GAD Gene-Disease Associations

genes associated with the disease abnormalities, multiple; congenital heart defects; craniofacial abnormalities; ectodermal dysplasia; heart defects, congenital; noonan syndrome; syndrome; turner's phenotype, karyotype normal in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

inflammation; insulin resistance; polycystic ovarian syndrome; polycystic ovary syndrome Gene Set

From GAD Gene-Disease Associations

genes associated with the disease inflammation; insulin resistance; polycystic ovarian syndrome; polycystic ovary syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

birth weight; fetal alcohol syndrome; fetal growth retardation; intrauterine growth retardation; syndrome; fetal, alcohol (dysmorphic) Gene Set

From GAD Gene-Disease Associations

genes associated with the disease birth weight; fetal alcohol syndrome; fetal growth retardation; intrauterine growth retardation; syndrome; fetal, alcohol (dysmorphic) in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

meckel-gruber syndrome; abnormalities, multiple; congenital abnormalities; polydactyly; syndrome Gene Set

From GAD Gene-Disease Associations

genes associated with the disease meckel-gruber syndrome; abnormalities, multiple; congenital abnormalities; polydactyly; syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

antithrombin iii deficiency; gastrointestinal hemorrhage; protein c deficiency; protein s deficiency; splenomegaly; thrombophilia; turner syndrome; venous thrombosis; xo syndrome Gene Set

From GAD Gene-Disease Associations

genes associated with the disease antithrombin iii deficiency; gastrointestinal hemorrhage; protein c deficiency; protein s deficiency; splenomegaly; thrombophilia; turner syndrome; venous thrombosis; xo syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

acne vulgaris; adrenal hyperplasia, congenital; congenital adrenal hyperplasia; hyperandrogenism; polycystic ovarian syndrome; polycystic ovary syndrome Gene Set

From GAD Gene-Disease Associations

genes associated with the disease acne vulgaris; adrenal hyperplasia, congenital; congenital adrenal hyperplasia; hyperandrogenism; polycystic ovarian syndrome; polycystic ovary syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

polycystic ovarian syndrome; polycystic ovary syndrome; puberty, precocious Gene Set

From GAD Gene-Disease Associations

genes associated with the disease polycystic ovarian syndrome; polycystic ovary syndrome; puberty, precocious in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

carbohydrate metabolism, inborn errors; dyskinesias; dyskinetic syndrome; epilepsy; mental retardation; syndrome Gene Set

From GAD Gene-Disease Associations

genes associated with the disease carbohydrate metabolism, inborn errors; dyskinesias; dyskinetic syndrome; epilepsy; mental retardation; syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

chromosome aberrations; chromosome abnormality; klinefelter syndrome; klinefelter's syndrome Gene Set

From GAD Gene-Disease Associations

genes associated with the disease chromosome aberrations; chromosome abnormality; klinefelter syndrome; klinefelter's syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

brugada syndrome; chromosome deletion; death, sudden, cardiac; long qt syndrome; sudden cardiac death Gene Set

From GAD Gene-Disease Associations

genes associated with the disease brugada syndrome; chromosome deletion; death, sudden, cardiac; long qt syndrome; sudden cardiac death in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

hantavirus infections; hantavirus pulmonary syndrome; heart diseases; syndrome Gene Set

From GAD Gene-Disease Associations

genes associated with the disease hantavirus infections; hantavirus pulmonary syndrome; heart diseases; syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

adenomatous polyposis coli; bone neoplasms; epidermal cyst; gardner syndrome; gardner's syndrome; osteoma Gene Set

From GAD Gene-Disease Associations

genes associated with the disease adenomatous polyposis coli; bone neoplasms; epidermal cyst; gardner syndrome; gardner's syndrome; osteoma in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

acute lung injury; adult respiratory distress syndrome; respiratory distress syndrome, adult; sepsis; systemic infection Gene Set

From GAD Gene-Disease Associations

genes associated with the disease acute lung injury; adult respiratory distress syndrome; respiratory distress syndrome, adult; sepsis; systemic infection in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

down syndrome; ehlers-danlos syndrome Gene Set

From GAD Gene-Disease Associations

genes associated with the disease down syndrome; ehlers-danlos syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

arthritis; felty's syndrome; large granular lymphocyte syndrome Gene Set

From GAD Gene-Disease Associations

genes associated with the disease arthritis; felty's syndrome; large granular lymphocyte syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

polycystic ovarian syndrome; polycystic ovary syndrome; thrombophilia Gene Set

From GAD Gene-Disease Associations

genes associated with the disease polycystic ovarian syndrome; polycystic ovary syndrome; thrombophilia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

insulin resistance; metabolic syndrome x; polycystic ovary syndrome Gene Set

From GAD Gene-Disease Associations

genes associated with the disease insulin resistance; metabolic syndrome x; polycystic ovary syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

menarch; obesity; pof - premature ovarian failure; polycystic ovarian syndrome; polycystic ovary syndrome; primary ovarian insufficiency; puberty, delayed; puberty, precocious Gene Set

From GAD Gene-Disease Associations

genes associated with the disease menarch; obesity; pof - premature ovarian failure; polycystic ovarian syndrome; polycystic ovary syndrome; primary ovarian insufficiency; puberty, delayed; puberty, precocious in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

heart-hand syndrome, holt-oram syndrome Gene Set

From GAD Gene-Disease Associations

genes associated with the disease heart-hand syndrome, holt-oram syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

gynecomastia; klinefelter syndrome; klinefelter's syndrome; oligospermia Gene Set

From GAD Gene-Disease Associations

genes associated with the disease gynecomastia; klinefelter syndrome; klinefelter's syndrome; oligospermia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

adult respiratory distress syndrome; community-acquired infections; pneumonia; respiratory distress syndrome, adult; septic shock; shock, septic Gene Set

From GAD Gene-Disease Associations

genes associated with the disease adult respiratory distress syndrome; community-acquired infections; pneumonia; respiratory distress syndrome, adult; septic shock; shock, septic in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

congenital heart defects; digeorge syndrome; heart defects, congenital; pharyngeal pouch; syndrome Gene Set

From GAD Gene-Disease Associations

genes associated with the disease congenital heart defects; digeorge syndrome; heart defects, congenital; pharyngeal pouch; syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

aneurysm, dissecting; aortic aneurysm, thoracic; loeys-dietz syndrome; marfan syndrome Gene Set

From GAD Gene-Disease Associations

genes associated with the disease aneurysm, dissecting; aortic aneurysm, thoracic; loeys-dietz syndrome; marfan syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

diabetes mellitus; glucose intolerance; insulin resistance; polycystic ovarian syndrome; polycystic ovary syndrome Gene Set

From GAD Gene-Disease Associations

genes associated with the disease diabetes mellitus; glucose intolerance; insulin resistance; polycystic ovarian syndrome; polycystic ovary syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

hirsutism; insulin resistance; polycystic ovarian syndrome; polycystic ovary syndrome Gene Set

From GAD Gene-Disease Associations

genes associated with the disease hirsutism; insulin resistance; polycystic ovarian syndrome; polycystic ovary syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

haemolytic-uraemic syndrome; hematologic diseases; hemolytic-uremic syndrome; purpura, thrombocytopenic; thrombocytopenic purpura Gene Set

From GAD Gene-Disease Associations

genes associated with the disease haemolytic-uraemic syndrome; hematologic diseases; hemolytic-uremic syndrome; purpura, thrombocytopenic; thrombocytopenic purpura in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

dwarfism, pituitary; pituitary dwarfism; turner syndrome; xo syndrome Gene Set

From GAD Gene-Disease Associations

genes associated with the disease dwarfism, pituitary; pituitary dwarfism; turner syndrome; xo syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

stuve-wiedemann syndrome/schwartz-jampel type 2 syndrome Gene Set

From OMIM Gene-Disease Associations

genes associated with the stuve-wiedemann syndrome/schwartz-jampel type 2 syndrome phenotype from the curated OMIM Gene-Disease Associations dataset.

digeorge syndrome/velocardiofacial syndrome complex-2 Gene Set

From OMIM Gene-Disease Associations

genes associated with the digeorge syndrome/velocardiofacial syndrome complex-2 phenotype from the curated OMIM Gene-Disease Associations dataset.

ifap syndrome with or without bresheck syndrome Gene Set

From OMIM Gene-Disease Associations

genes associated with the ifap syndrome with or without bresheck syndrome phenotype from the curated OMIM Gene-Disease Associations dataset.

Basic cell groups and regions Gene Set

From Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles

genes with high or low expression in Basic cell groups and regions relative to other tissues from the Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles dataset.

head and face region of M1 Gene Set

From Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles

genes with high or low expression in head and face region of M1 relative to other tissues from the Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles dataset.

telomeres telomerase cellular aging and immortality Gene Set

From Biocarta Pathways

proteins participating in the telomeres telomerase cellular aging and immortality pathway from the Biocarta Pathways dataset.

mcalpain and friends in cell motility Gene Set

From Biocarta Pathways

proteins participating in the mcalpain and friends in cell motility pathway from the Biocarta Pathways dataset.

role of ppar-gamma coactivators in obesity and thermogenesis Gene Set

From Biocarta Pathways

proteins participating in the role of ppar-gamma coactivators in obesity and thermogenesis pathway from the Biocarta Pathways dataset.

il12 and stat4 dependent signaling pathway in th1 development Gene Set

From Biocarta Pathways

proteins participating in the il12 and stat4 dependent signaling pathway in th1 development pathway from the Biocarta Pathways dataset.

hypoxia and p53 in the cardiovascular system Gene Set

From Biocarta Pathways

proteins participating in the hypoxia and p53 in the cardiovascular system pathway from the Biocarta Pathways dataset.

lissencephaly gene (lis1) in neuronal migration and development Gene Set

From Biocarta Pathways

proteins participating in the lissencephaly gene (lis1) in neuronal migration and development pathway from the Biocarta Pathways dataset.

role of erbb2 in signal transduction and oncology Gene Set

From Biocarta Pathways

proteins participating in the role of erbb2 in signal transduction and oncology pathway from the Biocarta Pathways dataset.

corticosteroids and cardioprotection Gene Set

From Biocarta Pathways

proteins participating in the corticosteroids and cardioprotection pathway from the Biocarta Pathways dataset.

cyclins and cell cycle regulation Gene Set

From Biocarta Pathways

proteins participating in the cyclins and cell cycle regulation pathway from the Biocarta Pathways dataset.

mechanism of acetaminophen activity and toxicity Gene Set

From Biocarta Pathways

proteins participating in the mechanism of acetaminophen activity and toxicity pathway from the Biocarta Pathways dataset.

nfat and hypertrophy of the heart Gene Set

From Biocarta Pathways

proteins participating in the nfat and hypertrophy of the heart pathway from the Biocarta Pathways dataset.

acetylation and deacetylation of rela in nucleus Gene Set

From Biocarta Pathways

proteins participating in the acetylation and deacetylation of rela in nucleus pathway from the Biocarta Pathways dataset.

thrombin signaling and protease-activated receptors Gene Set

From Biocarta Pathways

proteins participating in the thrombin signaling and protease-activated receptors pathway from the Biocarta Pathways dataset.

antigen processing and presentation Gene Set

From Biocarta Pathways

proteins participating in the antigen processing and presentation pathway from the Biocarta Pathways dataset.

stathmin and breast cancer resistance to antimicrotubule agents Gene Set

From Biocarta Pathways

proteins participating in the stathmin and breast cancer resistance to antimicrotubule agents pathway from the Biocarta Pathways dataset.

role of ß-arrestins in the activation and targeting of map kinases Gene Set

From Biocarta Pathways

proteins participating in the role of ß-arrestins in the activation and targeting of map kinases pathway from the Biocarta Pathways dataset.

cystic fibrosis transmembrane conductance regulator (cftr) and beta 2 adrenergic receptor (b2ar) pathway Gene Set

From Biocarta Pathways

proteins participating in the cystic fibrosis transmembrane conductance regulator (cftr) and beta 2 adrenergic receptor (b2ar) pathway pathway from the Biocarta Pathways dataset.

role of pi3k subunit p85 in regulation of actin organization and cell migration Gene Set

From Biocarta Pathways

proteins participating in the role of pi3k subunit p85 in regulation of actin organization and cell migration pathway from the Biocarta Pathways dataset.

btg family proteins and cell cycle regulation Gene Set

From Biocarta Pathways

proteins participating in the btg family proteins and cell cycle regulation pathway from the Biocarta Pathways dataset.

control of skeletal myogenesis by hdac and calcium/calmodulin-dependent kinase (camk) Gene Set

From Biocarta Pathways

proteins participating in the control of skeletal myogenesis by hdac and calcium/calmodulin-dependent kinase (camk) pathway from the Biocarta Pathways dataset.

endocytotic role of ndk phosphins and dynamin Gene Set

From Biocarta Pathways

proteins participating in the endocytotic role of ndk phosphins and dynamin pathway from the Biocarta Pathways dataset.

regulation of eif-4e and p70s6 kinase Gene Set

From Biocarta Pathways

proteins participating in the regulation of eif-4e and p70s6 kinase pathway from the Biocarta Pathways dataset.

estrogen responsive protein efp controls cell cycle and breast tumors growth Gene Set

From Biocarta Pathways

proteins participating in the estrogen responsive protein efp controls cell cycle and breast tumors growth pathway from the Biocarta Pathways dataset.

vegf hypoxia and angiogenesis Gene Set

From Biocarta Pathways

proteins participating in the vegf hypoxia and angiogenesis pathway from the Biocarta Pathways dataset.

yaci and bcma stimulation of b cell immune responses Gene Set

From Biocarta Pathways

proteins participating in the yaci and bcma stimulation of b cell immune responses pathway from the Biocarta Pathways dataset.

lck and fyn tyrosine kinases in initiation of tcr activation Gene Set

From Biocarta Pathways

proteins participating in the lck and fyn tyrosine kinases in initiation of tcr activation pathway from the Biocarta Pathways dataset.

hiv-1 nef: negative effector of fas and tnf Gene Set

From Biocarta Pathways

proteins participating in the hiv-1 nef: negative effector of fas and tnf pathway from the Biocarta Pathways dataset.

nuclear receptors coordinate the activities of chromatin remodeling complexes and coactivators to facilitate initiation of transcription in carcinoma cells Gene Set

From Biocarta Pathways

proteins participating in the nuclear receptors coordinate the activities of chromatin remodeling complexes and coactivators to facilitate initiation of transcription in carcinoma cells pathway from the Biocarta Pathways dataset.

ucalpain and friends in cell spread Gene Set

From Biocarta Pathways

proteins participating in the ucalpain and friends in cell spread pathway from the Biocarta Pathways dataset.

ionomycin and phorbal ester signaling pathway Gene Set

From Biocarta Pathways

proteins participating in the ionomycin and phorbal ester signaling pathway pathway from the Biocarta Pathways dataset.

carm1 and regulation of the estrogen receptor Gene Set

From Biocarta Pathways

proteins participating in the carm1 and regulation of the estrogen receptor pathway from the Biocarta Pathways dataset.

phosphoinositides and their downstream targets Gene Set

From Biocarta Pathways

proteins participating in the phosphoinositides and their downstream targets pathway from the Biocarta Pathways dataset.

melanocyte development and pigmentation pathway Gene Set

From Biocarta Pathways

proteins participating in the melanocyte development and pigmentation pathway pathway from the Biocarta Pathways dataset.

akap95 role in mitosis and chromosome dynamics Gene Set

From Biocarta Pathways

proteins participating in the akap95 role in mitosis and chromosome dynamics pathway from the Biocarta Pathways dataset.

transcription factor creb and its extracellular signals Gene Set

From Biocarta Pathways

proteins participating in the transcription factor creb and its extracellular signals pathway from the Biocarta Pathways dataset.

the igf-1 receptor and longevity Gene Set

From Biocarta Pathways

proteins participating in the the igf-1 receptor and longevity pathway from the Biocarta Pathways dataset.

cdc25 and chk1 regulatory pathway in response to dna damage Gene Set

From Biocarta Pathways

proteins participating in the cdc25 and chk1 regulatory pathway in response to dna damage pathway from the Biocarta Pathways dataset.

human cytomegalovirus and map kinase pathways Gene Set

From Biocarta Pathways

proteins participating in the human cytomegalovirus and map kinase pathways pathway from the Biocarta Pathways dataset.

influence of ras and rho proteins on g1 to s transition Gene Set

From Biocarta Pathways

proteins participating in the influence of ras and rho proteins on g1 to s transition pathway from the Biocarta Pathways dataset.

proteolysis and signaling pathway of notch Gene Set

From Biocarta Pathways

proteins participating in the proteolysis and signaling pathway of notch pathway from the Biocarta Pathways dataset.

apoptotic dna-fragmentation and tissue homeostasis Gene Set

From Biocarta Pathways

proteins participating in the apoptotic dna-fragmentation and tissue homeostasis pathway from the Biocarta Pathways dataset.

ion channels and their functional role in vascular endothelium Gene Set

From Biocarta Pathways

proteins participating in the ion channels and their functional role in vascular endothelium pathway from the Biocarta Pathways dataset.

alpha-synuclein and parkin-mediated proteolysis in parkinson`s disease Gene Set

From Biocarta Pathways

proteins participating in the alpha-synuclein and parkin-mediated proteolysis in parkinson`s disease pathway from the Biocarta Pathways dataset.

fosb gene expression and drug abuse Gene Set

From Biocarta Pathways

proteins participating in the fosb gene expression and drug abuse pathway from the Biocarta Pathways dataset.

links between pyk2 and map kinases Gene Set

From Biocarta Pathways

proteins participating in the links between pyk2 and map kinases pathway from the Biocarta Pathways dataset.

opposing roles of aif in apoptosis and cell survival Gene Set

From Biocarta Pathways

proteins participating in the opposing roles of aif in apoptosis and cell survival pathway from the Biocarta Pathways dataset.

degradation of the rar and rxr by the proteasome Gene Set

From Biocarta Pathways

proteins participating in the degradation of the rar and rxr by the proteasome pathway from the Biocarta Pathways dataset.

cadmium induces dna synthesis and proliferation in macrophages Gene Set

From Biocarta Pathways

proteins participating in the cadmium induces dna synthesis and proliferation in macrophages pathway from the Biocarta Pathways dataset.

erk and pi-3 kinase are necessary for collagen binding in corneal epithelia Gene Set

From Biocarta Pathways

proteins participating in the erk and pi-3 kinase are necessary for collagen binding in corneal epithelia pathway from the Biocarta Pathways dataset.

role of brca1 brca2 and atr in cancer susceptibility Gene Set

From Biocarta Pathways

proteins participating in the role of brca1 brca2 and atr in cancer susceptibility pathway from the Biocarta Pathways dataset.

chrebp regulation by carbohydrates and camp Gene Set

From Biocarta Pathways

proteins participating in the chrebp regulation by carbohydrates and camp pathway from the Biocarta Pathways dataset.

pten dependent cell cycle arrest and apoptosis Gene Set

From Biocarta Pathways

proteins participating in the pten dependent cell cycle arrest and apoptosis pathway from the Biocarta Pathways dataset.

induction of apoptosis through dr3 and dr4/5 death receptors Gene Set

From Biocarta Pathways

proteins participating in the induction of apoptosis through dr3 and dr4/5 death receptors pathway from the Biocarta Pathways dataset.

CIITA-18437201-Raji B cells and iDC-human Gene Set

From CHEA Transcription Factor Binding Site Profiles

genes with transcription factor binding evidence in the CIITA-18437201-Raji B cells and iDC-human transcription factor binding site profile from the CHEA Transcription Factor Binding Site Profiles dataset.

FOXP2-23625967-PFSK-1 AND SK-N-MC-HUMAN Gene Set

From CHEA Transcription Factor Binding Site Profiles

genes with transcription factor binding evidence in the FOXP2-23625967-PFSK-1 AND SK-N-MC-HUMAN transcription factor binding site profile from the CHEA Transcription Factor Binding Site Profiles dataset.

VDR-23401126-LCL-AND-THP1-HUMAN Gene Set

From CHEA Transcription Factor Binding Site Profiles

genes with transcription factor binding evidence in the VDR-23401126-LCL-AND-THP1-HUMAN transcription factor binding site profile from the CHEA Transcription Factor Binding Site Profiles dataset.

YY1-23942234-MYOBLASTS AND MYOTUBES-MOUSE Gene Set

From CHEA Transcription Factor Binding Site Profiles

genes with transcription factor binding evidence in the YY1-23942234-MYOBLASTS AND MYOTUBES-MOUSE transcription factor binding site profile from the CHEA Transcription Factor Binding Site Profiles dataset.

BACH1-22875853-HELA-AND-SCP4-HUMAN Gene Set

From CHEA Transcription Factor Binding Site Profiles

genes with transcription factor binding evidence in the BACH1-22875853-HELA-AND-SCP4-HUMAN transcription factor binding site profile from the CHEA Transcription Factor Binding Site Profiles dataset.

EZH2-23942234-MYOBLASTS AND MYOTUBES-MOUSE Gene Set

From CHEA Transcription Factor Binding Site Profiles

genes with transcription factor binding evidence in the EZH2-23942234-MYOBLASTS AND MYOTUBES-MOUSE transcription factor binding site profile from the CHEA Transcription Factor Binding Site Profiles dataset.

Hypothyroidism, central, and testicular enlargement Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Hypothyroidism, central, and testicular enlargement phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Trifunctional protein deficiency with myopathy and neuropathy Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Trifunctional protein deficiency with myopathy and neuropathy phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Holoprosencephaly, ectrodactyly, and bilateral cleft lip/palate Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Holoprosencephaly, ectrodactyly, and bilateral cleft lip/palate phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Arthrogryposis, mental retardation, and seizures Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Arthrogryposis, mental retardation, and seizures phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Vater association with macrocephaly and ventriculomegaly Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Vater association with macrocephaly and ventriculomegaly phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Renal hamartomas nephroblastomatosis and fetal gigantism Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Renal hamartomas nephroblastomatosis and fetal gigantism phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Myopathy, lactic acidosis, and sideroblastic anemia 1 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Myopathy, lactic acidosis, and sideroblastic anemia 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Microtia, hearing impairment, and cleft palate Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Microtia, hearing impairment, and cleft palate phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper-ige Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper-ige phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Ichthyosis, spastic quadriplegia, and mental retardation Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Ichthyosis, spastic quadriplegia, and mental retardation phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Hypermanganesemia with dystonia, polycythemia and cirrhosis Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Hypermanganesemia with dystonia, polycythemia and cirrhosis phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Combined cellular and humoral immune defects with granulomas Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Combined cellular and humoral immune defects with granulomas phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Combined d-2- and l-2-hydroxyglutaric aciduria Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Combined d-2- and l-2-hydroxyglutaric aciduria phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Sinoatrial node dysfunction and deafness Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Sinoatrial node dysfunction and deafness phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Ectodermal dysplasia, anhidrotic, with immunodeficiency, osteopetrosis, and lymphedema Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Ectodermal dysplasia, anhidrotic, with immunodeficiency, osteopetrosis, and lymphedema phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Mental retardation with language impairment and autistic features Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Mental retardation with language impairment and autistic features phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Warts, hypogammaglobulinemia, infections, and myelokathexis Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Warts, hypogammaglobulinemia, infections, and myelokathexis phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Fibular hypoplasia and complex brachydactyly Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Fibular hypoplasia and complex brachydactyly phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Autoinflammation, antibody deficiency, and immune dysregulation, plcg2-associated Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Autoinflammation, antibody deficiency, and immune dysregulation, plcg2-associated phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Mental retardation, anterior maxillary protrusion, and strabismus Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Mental retardation, anterior maxillary protrusion, and strabismus phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Infantile convulsions and paroxysmal choreoathetosis, familial Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Infantile convulsions and paroxysmal choreoathetosis, familial phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Short stature, optic nerve atrophy, and pelger-huet anomaly Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Short stature, optic nerve atrophy, and pelger-huet anomaly phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Alzheimer disease, familial, 3, with spastic paraparesis and apraxia Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Alzheimer disease, familial, 3, with spastic paraparesis and apraxia phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Insulin-resistant diabetes mellitus AND acanthosis nigricans Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Insulin-resistant diabetes mellitus AND acanthosis nigricans phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Hypertelorism, severe, with midface prominence, myopia, mental retardation, and bone fragility Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Hypertelorism, severe, with midface prominence, myopia, mental retardation, and bone fragility phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Deafness with labyrinthine aplasia microtia and microdontia (LAMM) Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Deafness with labyrinthine aplasia microtia and microdontia (LAMM) phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Multiple Cutaneous and Mucosal Venous Malformations Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Multiple Cutaneous and Mucosal Venous Malformations phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Neuropathy hereditary sensory and autonomic type 1 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Neuropathy hereditary sensory and autonomic type 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Poikiloderma, hereditary fibrosing, with tendon contractures, myopathy, and pulmonary fibrosis Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Poikiloderma, hereditary fibrosing, with tendon contractures, myopathy, and pulmonary fibrosis phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Peripheral neuropathy, myopathy, hoarseness, and hearing loss Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Peripheral neuropathy, myopathy, hoarseness, and hearing loss phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Immunodeficiency, X-Linked, with magnesium defect, Epstein-Barr virus infection, and neoplasia Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Immunodeficiency, X-Linked, with magnesium defect, Epstein-Barr virus infection, and neoplasia phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Growth retardation, developmental delay, coarse facies, and early death Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Growth retardation, developmental delay, coarse facies, and early death phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Inflammatory skin and bowel disease, neonatal, 2 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Inflammatory skin and bowel disease, neonatal, 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Anemia sideroblastic and spinocerebellar ataxia Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Anemia sideroblastic and spinocerebellar ataxia phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Facial dysmorphism, immunodeficiency, livedo, and short stature Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Facial dysmorphism, immunodeficiency, livedo, and short stature phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Deafness, congenital heart defects, and posterior embryotoxon Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Deafness, congenital heart defects, and posterior embryotoxon phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Cerebellar ataxia, areflexia, pes cavus, optic atrophy and sensorinural hearing loss Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Cerebellar ataxia, areflexia, pes cavus, optic atrophy and sensorinural hearing loss phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Infertility associated with multi-tailed spermatozoa and excessive DNA Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Infertility associated with multi-tailed spermatozoa and excessive DNA phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Iris coloboma with ptosis, hypertelorism, and mental retardation Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Iris coloboma with ptosis, hypertelorism, and mental retardation phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Mullerian aplasia and hyperandrogenism Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Mullerian aplasia and hyperandrogenism phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblJ TYPE Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblJ TYPE phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Inclusion body myopathy with early-onset paget disease and frontotemporal dementia Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Inclusion body myopathy with early-onset paget disease and frontotemporal dementia phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Multicentric osteolysis, nodulosis and arthropathy Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Multicentric osteolysis, nodulosis and arthropathy phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Stapes ankylosis with broad thumb and toes Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Stapes ankylosis with broad thumb and toes phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Corneal dystrophy and perceptive deafness Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Corneal dystrophy and perceptive deafness phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Arrhythmogenic right ventricular dysplasia, familial, 11, with mild palmoplantar keratoderma and woolly hair Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Arrhythmogenic right ventricular dysplasia, familial, 11, with mild palmoplantar keratoderma and woolly hair phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Myopathy, lactic acidosis, and sideroblastic anemia 2 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Myopathy, lactic acidosis, and sideroblastic anemia 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Neuropathy, hereditary motor and sensory, Okinawa type Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Neuropathy, hereditary motor and sensory, Okinawa type phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Microcephaly, short stature, and impaired glucose metabolism Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Microcephaly, short stature, and impaired glucose metabolism phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Hemorrhagic destruction of the brain, subependymal calcification, and cataracts Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Hemorrhagic destruction of the brain, subependymal calcification, and cataracts phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Macrocephaly, alopecia, cutis laxa, and scoliosis Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Macrocephaly, alopecia, cutis laxa, and scoliosis phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Hypomyelination and Congenital Cataract Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Hypomyelination and Congenital Cataract phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Hirschsprung disease, cardiac defects, and autonomic dysfunction Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Hirschsprung disease, cardiac defects, and autonomic dysfunction phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Cardiomyopathy dilated with woolly hair and keratoderma Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Cardiomyopathy dilated with woolly hair and keratoderma phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Arthrogryposis, renal dysfunction, and cholestasis 2 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Arthrogryposis, renal dysfunction, and cholestasis 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Cataract and cardiomyopathy Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Cataract and cardiomyopathy phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Inflammatory skin and bowel disease, neonatal Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Inflammatory skin and bowel disease, neonatal phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Mental retardation X-linked with cerebellar hypoplasia and distinctive facial appearance Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Mental retardation X-linked with cerebellar hypoplasia and distinctive facial appearance phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Cataract, microphthalmia and nystagmus Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Cataract, microphthalmia and nystagmus phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Foveal hypoplasia and anterior segment dysgenesis Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Foveal hypoplasia and anterior segment dysgenesis phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Bone fragility with contractures, arterial rupture, and deafness Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Bone fragility with contractures, arterial rupture, and deafness phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Retinal dystrophy with inner retinal dysfunction and ganglion cell abnormalities Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Retinal dystrophy with inner retinal dysfunction and ganglion cell abnormalities phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Gyrate atrophy of choroid and retina with pyridoxine-responsive ornithinemia Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Gyrate atrophy of choroid and retina with pyridoxine-responsive ornithinemia phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Ulna and fibula absence of with severe limb deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Ulna and fibula absence of with severe limb deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Dendritic cell, monocyte, B lymphocyte, and natural killer lymphocyte deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Dendritic cell, monocyte, B lymphocyte, and natural killer lymphocyte deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Factor v and factor viii, combined deficiency of, 2 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Factor v and factor viii, combined deficiency of, 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Myopathy, areflexia, respiratory distress, and dysphagia, early-onset Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Myopathy, areflexia, respiratory distress, and dysphagia, early-onset phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Alpha/beta T-cell lymphopenia with gamma/delta T-cell expansion, severe cytomegalovirus infection, and autoimmunity Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Alpha/beta T-cell lymphopenia with gamma/delta T-cell expansion, severe cytomegalovirus infection, and autoimmunity phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Hereditary Paragangliomas and Pheochromocytomas Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Hereditary Paragangliomas and Pheochromocytomas phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

X-linked rolandic epilepsy with mental retardation and speech dyspraxia Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the X-linked rolandic epilepsy with mental retardation and speech dyspraxia phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Band-like calcification with simplified gyration and polymicrogyria Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Band-like calcification with simplified gyration and polymicrogyria phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Hypercarotenemia and vitamin a deficiency, autosomal dominant Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Hypercarotenemia and vitamin a deficiency, autosomal dominant phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Cerebellar ataxia and hypogonadotropic hypogonadism Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Cerebellar ataxia and hypogonadotropic hypogonadism phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Epilepsy, X-linked, with variable learning disabilities and behavior disorders Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Epilepsy, X-linked, with variable learning disabilities and behavior disorders phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Optic atrophy and cataract, autosomal dominant Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Optic atrophy and cataract, autosomal dominant phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Cataract, juvenile, with microcornea and glucosuria Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Cataract, juvenile, with microcornea and glucosuria phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VII Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VII phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Cerebellar ataxia, deafness, and narcolepsy Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Cerebellar ataxia, deafness, and narcolepsy phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Cutis laxa with severe pulmonary, gastrointestinal, and urinary abnormalities Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Cutis laxa with severe pulmonary, gastrointestinal, and urinary abnormalities phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Juvenile macular degeneration and hypotrichosis Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Juvenile macular degeneration and hypotrichosis phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Hereditary motor and sensory neuropathy with optic atrophy Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Hereditary motor and sensory neuropathy with optic atrophy phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE I, SEVERE Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE I, SEVERE phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Hereditary leiomyomatosis and renal cell cancer Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Hereditary leiomyomatosis and renal cell cancer phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Monocyte and dendritic cell deficiency, autosomal recessive Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Monocyte and dendritic cell deficiency, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

T-cell immunodeficiency, congenital alopecia and nail dystrophy Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the T-cell immunodeficiency, congenital alopecia and nail dystrophy phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Pancreatic agenesis and congenital heart disease Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Pancreatic agenesis and congenital heart disease phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Microcornea, rod-cone dystrophy, cataract, and posterior staphyloma Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Microcornea, rod-cone dystrophy, cataract, and posterior staphyloma phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Combined malonic and methylmalonic aciduria Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Combined malonic and methylmalonic aciduria phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Microcornea, myopic chorioretinal atrophy, and telecanthus Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Microcornea, myopic chorioretinal atrophy, and telecanthus phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Glomerulocystic kidney disease with hyperuricemia and isosthenuria Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Glomerulocystic kidney disease with hyperuricemia and isosthenuria phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Thrombocytopenia, platelet dysfunction, hemolysis, and imbalanced globin synthesis Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Thrombocytopenia, platelet dysfunction, hemolysis, and imbalanced globin synthesis phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Microcephaly and chorioretinopathy, autosomal recessive, 2 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Microcephaly and chorioretinopathy, autosomal recessive, 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Corneal intraepithelial dyskeratosis and ectodermal dysplasia Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Corneal intraepithelial dyskeratosis and ectodermal dysplasia phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Aniridia, cerebellar ataxia, and mental retardation Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Aniridia, cerebellar ataxia, and mental retardation phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

X-linked hereditary motor and sensory neuropathy Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the X-linked hereditary motor and sensory neuropathy phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Renal tubular acidosis, proximal, with ocular abnormalities and mental retardation Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Renal tubular acidosis, proximal, with ocular abnormalities and mental retardation phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Mycobacterial and viral infections, susceptibility to, autosomal recessive Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Mycobacterial and viral infections, susceptibility to, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Obesity, hyperphagia, and developmental delay Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Obesity, hyperphagia, and developmental delay phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Cerebroretinal microangiopathy with calcifications and cysts Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Cerebroretinal microangiopathy with calcifications and cysts phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Generalized epilepsy and paroxysmal dyskinesia Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Generalized epilepsy and paroxysmal dyskinesia phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VI Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VI phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Microcephaly, normal intelligence and immunodeficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Microcephaly, normal intelligence and immunodeficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Calcification of joints and arteries Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Calcification of joints and arteries phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Hypotrichosis and recurrent skin vesicles Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Hypotrichosis and recurrent skin vesicles phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Epidermolysa bullosa simplex and limb girdle muscular dystrophy Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Epidermolysa bullosa simplex and limb girdle muscular dystrophy phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Psychomotor retardation, epilepsy, and craniofacial dysmorphism Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Psychomotor retardation, epilepsy, and craniofacial dysmorphism phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Epiphyseal dysplasia, multiple, with myopia and conductive deafness Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Epiphyseal dysplasia, multiple, with myopia and conductive deafness phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Frontotemporal dementia and/or amyotrophic lateral sclerosis 2 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Frontotemporal dementia and/or amyotrophic lateral sclerosis 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IC, SEVERE Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IC, SEVERE phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Morbid obesity and spermatogenic failure Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Morbid obesity and spermatogenic failure phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Sideroblastic anemia with b-cell immunodeficiency, periodic fevers, and developmental delay Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Sideroblastic anemia with b-cell immunodeficiency, periodic fevers, and developmental delay phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Striatal necrosis, bilateral, and progressive polyneuropathy Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Striatal necrosis, bilateral, and progressive polyneuropathy phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Hereditary sensory and autonomic neuropathy type IIA Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Hereditary sensory and autonomic neuropathy type IIA phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Myopia, high, with cataract and vitreoretinal degeneration Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Myopia, high, with cataract and vitreoretinal degeneration phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Combined deficiency of factor V and factor VIII, 1 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Combined deficiency of factor V and factor VIII, 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Corneal fragility keratoglobus, blue sclerae AND joint hypermobility Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Corneal fragility keratoglobus, blue sclerae AND joint hypermobility phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Pyogenic arthritis, pyoderma gangrenosum and acne Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Pyogenic arthritis, pyoderma gangrenosum and acne phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Myopathy, areflexia, respiratory distress, and dysphagia, early-onset, mild variant Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Myopathy, areflexia, respiratory distress, and dysphagia, early-onset, mild variant phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Growth deficiency and mental retardation with facial dysmorphism Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Growth deficiency and mental retardation with facial dysmorphism phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Congenital Cataracts, Facial Dysmorphism, and Neuropathy Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Congenital Cataracts, Facial Dysmorphism, and Neuropathy phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Deafness, cochlear, with myopia and intellectual impairment Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Deafness, cochlear, with myopia and intellectual impairment phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Combined deficiency of sialidase AND beta galactosidase Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Combined deficiency of sialidase AND beta galactosidase phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

X-linked mental retardation with short stature, hypogonadism and abnormal gait Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the X-linked mental retardation with short stature, hypogonadism and abnormal gait phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Microcephaly, postnatal progressive, with seizures and brain atrophy Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Microcephaly, postnatal progressive, with seizures and brain atrophy phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Cardiomyopathy, dilated, with woolly hair, keratoderma, and tooth agenesis Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Cardiomyopathy, dilated, with woolly hair, keratoderma, and tooth agenesis phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia and skeletal dysplasia Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia and skeletal dysplasia phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Ichthyosis, follicular atrophoderma, hypotrichosis, and hypohidrosis Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Ichthyosis, follicular atrophoderma, hypotrichosis, and hypohidrosis phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

calcium- and calmodulin-dependent protein kinase complex Gene Set

From COMPARTMENTS Curated Protein Localization Evidence Scores

proteins localized to the calcium- and calmodulin-dependent protein kinase complex cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.

mrna cleavage and polyadenylation specificity factor complex Gene Set

From COMPARTMENTS Curated Protein Localization Evidence Scores

proteins localized to the mrna cleavage and polyadenylation specificity factor complex cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.

mitochondrial sorting and assembly machinery complex Gene Set

From COMPARTMENTS Curated Protein Localization Evidence Scores

proteins localized to the mitochondrial sorting and assembly machinery complex cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.

calcium- and calmodulin-dependent protein kinase complex Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores

proteins co-occuring with the calcium- and calmodulin-dependent protein kinase complex cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.

cortical layer of collagen and cuticulin-based cuticle extracellular matrix Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores

proteins co-occuring with the cortical layer of collagen and cuticulin-based cuticle extracellular matrix cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.

collagen and cuticulin-based cuticle extracellular matrix Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores

proteins co-occuring with the collagen and cuticulin-based cuticle extracellular matrix cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.

mrna cleavage and polyadenylation specificity factor complex Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores

proteins co-occuring with the mrna cleavage and polyadenylation specificity factor complex cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.

collagen and cuticulin-based cuticle extracellular matrix part Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores

proteins co-occuring with the collagen and cuticulin-based cuticle extracellular matrix part cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.

mitochondrial sorting and assembly machinery complex Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores

proteins co-occuring with the mitochondrial sorting and assembly machinery complex cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.

TRBP containing complex (DICER, RPL7A, EIF6, MOV10 and subunits of the 60S ribosomal particle) Gene Set

From CORUM Protein Complexes

proteins in the TRBP containing complex (DICER, RPL7A, EIF6, MOV10 and subunits of the 60S ribosomal particle) protein complex from the CORUM Protein Complexes dataset.

NRD complex (Nucleosome remodeling and deacetylation complex) Gene Set

From CORUM Protein Complexes

proteins in the NRD complex (Nucleosome remodeling and deacetylation complex) protein complex from the CORUM Protein Complexes dataset.

6S methyltransferase and RG-containing Sm proteins complex Gene Set

From CORUM Protein Complexes

proteins in the 6S methyltransferase and RG-containing Sm proteins complex protein complex from the CORUM Protein Complexes dataset.

Remodeling and spacing factor (RSF) complex Gene Set

From CORUM Protein Complexes

proteins in the Remodeling and spacing factor (RSF) complex protein complex from the CORUM Protein Complexes dataset.

PBAF complex (Polybromo- and BAF containing complex) Gene Set

From CORUM Protein Complexes

proteins in the PBAF complex (Polybromo- and BAF containing complex) protein complex from the CORUM Protein Complexes dataset.

Cleavage and polyadenylation factor (CPSF) Gene Set

From CORUM Protein Complexes

proteins in the Cleavage and polyadenylation factor (CPSF) protein complex from the CORUM Protein Complexes dataset.

Apoptosis- and splicing-associated protein complex (ASAP-L), SAP18-RNPS1-Acinus-L Gene Set

From CORUM Protein Complexes

proteins in the Apoptosis- and splicing-associated protein complex (ASAP-L), SAP18-RNPS1-Acinus-L protein complex from the CORUM Protein Complexes dataset.

Respiratory chain complex I (intermediate I/200kD and III/250kD), mitochondrial Gene Set

From CORUM Protein Complexes

proteins in the Respiratory chain complex I (intermediate I/200kD and III/250kD), mitochondrial protein complex from the CORUM Protein Complexes dataset.

Nucleic and chromatin Fanconi complex Gene Set

From CORUM Protein Complexes

proteins in the Nucleic and chromatin Fanconi complex protein complex from the CORUM Protein Complexes dataset.

Respiratory chain complex I (intermediate V/380kD and VI/480kD), mitochondrial Gene Set

From CORUM Protein Complexes

proteins in the Respiratory chain complex I (intermediate V/380kD and VI/480kD), mitochondrial protein complex from the CORUM Protein Complexes dataset.

Apoptosis- and splicing-associated protein complex (ASAP-S), SAP18-RNPS1-Acinus-S Gene Set

From CORUM Protein Complexes

proteins in the Apoptosis- and splicing-associated protein complex (ASAP-S), SAP18-RNPS1-Acinus-S protein complex from the CORUM Protein Complexes dataset.

ATP-utilizing chromatin assembly and remodeling factor (hACF) complex Gene Set

From CORUM Protein Complexes

proteins in the ATP-utilizing chromatin assembly and remodeling factor (hACF) complex protein complex from the CORUM Protein Complexes dataset.

20S methylosome and RG-containing Sm protein complex Gene Set

From CORUM Protein Complexes

proteins in the 20S methylosome and RG-containing Sm protein complex protein complex from the CORUM Protein Complexes dataset.

Amino Acids, Peptides, and Proteins Gene Set

From CTD Gene-Chemical Interactions

genes/proteins interacting with the chemical Amino Acids, Peptides, and Proteins from the curated CTD Gene-Chemical Interactions dataset.

Bile Acids and Salts Gene Set

From CTD Gene-Chemical Interactions

genes/proteins interacting with the chemical Bile Acids and Salts from the curated CTD Gene-Chemical Interactions dataset.

Prime and Bond NT Gene Set

From CTD Gene-Chemical Interactions

genes/proteins interacting with the chemical Prime and Bond NT from the curated CTD Gene-Chemical Interactions dataset.

drospirenone and ethinyl estradiol combination Gene Set

From CTD Gene-Chemical Interactions

genes/proteins interacting with the chemical drospirenone and ethinyl estradiol combination from the curated CTD Gene-Chemical Interactions dataset.

Hypophosphatemic Rickets And Hyperparathyroidism Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Hypophosphatemic Rickets And Hyperparathyroidism from the curated CTD Gene-Disease Associations dataset.

Severe Combined Immunodeficiency with Microcephaly, Growth Retardation, and Sensitivity to Ionizing Radiation Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Severe Combined Immunodeficiency with Microcephaly, Growth Retardation, and Sensitivity to Ionizing Radiation from the curated CTD Gene-Disease Associations dataset.

Fibular hypoplasia and complex brachydactyly Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Fibular hypoplasia and complex brachydactyly from the curated CTD Gene-Disease Associations dataset.

Synovitis granulomatous with uveitis and cranial neuropathies Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Synovitis granulomatous with uveitis and cranial neuropathies from the curated CTD Gene-Disease Associations dataset.

MENTAL RETARDATION, ANTERIOR MAXILLARY PROTRUSION, AND STRABISMUS Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease MENTAL RETARDATION, ANTERIOR MAXILLARY PROTRUSION, AND STRABISMUS from the curated CTD Gene-Disease Associations dataset.

Hereditary Sensory and Motor Neuropathy Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Hereditary Sensory and Motor Neuropathy from the curated CTD Gene-Disease Associations dataset.

Preaxial deficiency, postaxial polydactyly and hypospadias Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Preaxial deficiency, postaxial polydactyly and hypospadias from the curated CTD Gene-Disease Associations dataset.

Combined Cellular And Humoral Immune Defects With Granulomas Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Combined Cellular And Humoral Immune Defects With Granulomas from the curated CTD Gene-Disease Associations dataset.

OSTEOMYELITIS, STERILE MULTIFOCAL, WITH PERIOSTITIS AND PUSTULOSIS Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease OSTEOMYELITIS, STERILE MULTIFOCAL, WITH PERIOSTITIS AND PUSTULOSIS from the curated CTD Gene-Disease Associations dataset.

Corpus Callosum, Agenesis of, with Mental Retardation, Ocular Coloboma, and Micrognathia Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Corpus Callosum, Agenesis of, with Mental Retardation, Ocular Coloboma, and Micrognathia from the curated CTD Gene-Disease Associations dataset.

Deafness, Congenital, with Inner Ear Agenesis, Microtia, and Microdontia Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Deafness, Congenital, with Inner Ear Agenesis, Microtia, and Microdontia from the curated CTD Gene-Disease Associations dataset.

Epilepsy, rolandic with paroxysmal exercise-induced dystonia and writer's cramp Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Epilepsy, rolandic with paroxysmal exercise-induced dystonia and writer's cramp from the curated CTD Gene-Disease Associations dataset.

Low Molecular Weight Proteinuria with Hypercalciuria and Nephrocalcinosis Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Low Molecular Weight Proteinuria with Hypercalciuria and Nephrocalcinosis from the curated CTD Gene-Disease Associations dataset.

Keratosis Linearis with Ichthyosis Congenita and Sclerosing Keratoderma Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Keratosis Linearis with Ichthyosis Congenita and Sclerosing Keratoderma from the curated CTD Gene-Disease Associations dataset.

Ectodermal Dysplasia, Anhidrotic, with Immunodeficiency, Osteopetrosis, and Lymphedema Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Ectodermal Dysplasia, Anhidrotic, with Immunodeficiency, Osteopetrosis, and Lymphedema from the curated CTD Gene-Disease Associations dataset.

Microtia, Hearing Impairment, And Cleft Palate Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Microtia, Hearing Impairment, And Cleft Palate from the curated CTD Gene-Disease Associations dataset.

OSTEOCHONDRITIS DISSECANS, SHORT STATURE, AND EARLY-ONSET OSTEOARTHRITIS Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease OSTEOCHONDRITIS DISSECANS, SHORT STATURE, AND EARLY-ONSET OSTEOARTHRITIS from the curated CTD Gene-Disease Associations dataset.

Neuropathy, Hereditary Sensory And Autonomic, Type IIB Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Neuropathy, Hereditary Sensory And Autonomic, Type IIB from the curated CTD Gene-Disease Associations dataset.

Acromegaloid features, overgrowth, cleft palate, and hernia Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Acromegaloid features, overgrowth, cleft palate, and hernia from the curated CTD Gene-Disease Associations dataset.

46,XX SEX REVERSAL WITH DYSGENESIS OF KIDNEYS, ADRENALS, AND LUNGS Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease 46,XX SEX REVERSAL WITH DYSGENESIS OF KIDNEYS, ADRENALS, AND LUNGS from the curated CTD Gene-Disease Associations dataset.

Choreoathetosis, Hypothyroidism, And Neonatal Respiratory Distress Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Choreoathetosis, Hypothyroidism, And Neonatal Respiratory Distress from the curated CTD Gene-Disease Associations dataset.

Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, and Calvarial Hyperostosis Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, and Calvarial Hyperostosis from the curated CTD Gene-Disease Associations dataset.

Sacral defect and anterior sacral meningocele Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Sacral defect and anterior sacral meningocele from the curated CTD Gene-Disease Associations dataset.

Classical Lissencephalies and Subcortical Band Heterotopias Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Classical Lissencephalies and Subcortical Band Heterotopias from the curated CTD Gene-Disease Associations dataset.

Epiphyseal Dysplasia, Multiple, with Myopia and Conductive Deafness Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Epiphyseal Dysplasia, Multiple, with Myopia and Conductive Deafness from the curated CTD Gene-Disease Associations dataset.

Optic atrophy 1 and deafness Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Optic atrophy 1 and deafness from the curated CTD Gene-Disease Associations dataset.

Neuropathy, hereditary motor and sensory, Russe type Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Neuropathy, hereditary motor and sensory, Russe type from the curated CTD Gene-Disease Associations dataset.

Blepharophimosis, Ptosis, and Epicanthus Inversus Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Blepharophimosis, Ptosis, and Epicanthus Inversus from the curated CTD Gene-Disease Associations dataset.

Hypotrichosis And Recurrent Skin Vesicles Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Hypotrichosis And Recurrent Skin Vesicles from the curated CTD Gene-Disease Associations dataset.

Signs and Symptoms, Digestive Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Signs and Symptoms, Digestive from the curated CTD Gene-Disease Associations dataset.

Inclusion Body Myopathy With Early-Onset Paget Disease And Frontotemporal Dementia Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Inclusion Body Myopathy With Early-Onset Paget Disease And Frontotemporal Dementia from the curated CTD Gene-Disease Associations dataset.

Methylmalonic Aciduria and Homocystinuria, CblD Type Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Methylmalonic Aciduria and Homocystinuria, CblD Type from the curated CTD Gene-Disease Associations dataset.

Head and Neck Neoplasms Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Head and Neck Neoplasms from the curated CTD Gene-Disease Associations dataset.

MENTAL RETARDATION WITH LANGUAGE IMPAIRMENT AND WITH OR WITHOUT AUTISTIC FEATURES Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease MENTAL RETARDATION WITH LANGUAGE IMPAIRMENT AND WITH OR WITHOUT AUTISTIC FEATURES from the curated CTD Gene-Disease Associations dataset.

Congenital Hemidysplasia with Ichthyosiform Erythroderma and Limb Defects Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Congenital Hemidysplasia with Ichthyosiform Erythroderma and Limb Defects from the curated CTD Gene-Disease Associations dataset.

Cataract, Juvenile, With Microcornea And Glucosuria Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Cataract, Juvenile, With Microcornea And Glucosuria from the curated CTD Gene-Disease Associations dataset.

HEREDITARY LEIOMYOMATOSIS AND RENAL CELL CANCER Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease HEREDITARY LEIOMYOMATOSIS AND RENAL CELL CANCER from the curated CTD Gene-Disease Associations dataset.

Venous Malformations, Multiple Cutaneous and Mucosal Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Venous Malformations, Multiple Cutaneous and Mucosal from the curated CTD Gene-Disease Associations dataset.

BAND-LIKE CALCIFICATION WITH SIMPLIFIED GYRATION AND POLYMICROGYRIA Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease BAND-LIKE CALCIFICATION WITH SIMPLIFIED GYRATION AND POLYMICROGYRIA from the curated CTD Gene-Disease Associations dataset.

Postoperative Nausea and Vomiting Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Postoperative Nausea and Vomiting from the curated CTD Gene-Disease Associations dataset.

Myopathy with lactic acidosis and sideroblastic anemia Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Myopathy with lactic acidosis and sideroblastic anemia from the curated CTD Gene-Disease Associations dataset.

Albinism with hemorrhagic diathesis and pigmented reticuloendothelial cells Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Albinism with hemorrhagic diathesis and pigmented reticuloendothelial cells from the curated CTD Gene-Disease Associations dataset.

Trifunctional Protein Deficiency With Myopathy And Neuropathy Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Trifunctional Protein Deficiency With Myopathy And Neuropathy from the curated CTD Gene-Disease Associations dataset.

MICROCEPHALY, POSTNATAL PROGRESSIVE, WITH SEIZURES AND BRAIN ATROPHY Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease MICROCEPHALY, POSTNATAL PROGRESSIVE, WITH SEIZURES AND BRAIN ATROPHY from the curated CTD Gene-Disease Associations dataset.

Congenital Cataracts, Facial Dysmorphism, And Neuropathy Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Congenital Cataracts, Facial Dysmorphism, And Neuropathy from the curated CTD Gene-Disease Associations dataset.

Corneal dystrophy and perceptive deafness Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Corneal dystrophy and perceptive deafness from the curated CTD Gene-Disease Associations dataset.

VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, WITH OR WITHOUT ATRIAL DYSFUNCTION AND/OR DILATED CARDIOMYOPATHY Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, WITH OR WITHOUT ATRIAL DYSFUNCTION AND/OR DILATED CARDIOMYOPATHY from the curated CTD Gene-Disease Associations dataset.

Mental Retardation, Skeletal Dysplasia, and Abducens Palsy Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Mental Retardation, Skeletal Dysplasia, and Abducens Palsy from the curated CTD Gene-Disease Associations dataset.

Hypopituitarism and septooptic 'dysplasia' Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Hypopituitarism and septooptic 'dysplasia' from the curated CTD Gene-Disease Associations dataset.

PALMOPLANTAR HYPERKERATOSIS WITH SQUAMOUS CELL CARCINOMA OF SKIN AND 46,XX SEX REVERSAL Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease PALMOPLANTAR HYPERKERATOSIS WITH SQUAMOUS CELL CARCINOMA OF SKIN AND 46,XX SEX REVERSAL from the curated CTD Gene-Disease Associations dataset.

Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps from the curated CTD Gene-Disease Associations dataset.

Aplasia of Lacrimal and Salivary Glands Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Aplasia of Lacrimal and Salivary Glands from the curated CTD Gene-Disease Associations dataset.

NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IA Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IA from the curated CTD Gene-Disease Associations dataset.

Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities from the curated CTD Gene-Disease Associations dataset.

MICROCEPHALY, SEIZURES, AND DEVELOPMENTAL DELAY Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease MICROCEPHALY, SEIZURES, AND DEVELOPMENTAL DELAY from the curated CTD Gene-Disease Associations dataset.

Glomerulocystic Kidney Disease with Hyperuricemia and Isosthenuria Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Glomerulocystic Kidney Disease with Hyperuricemia and Isosthenuria from the curated CTD Gene-Disease Associations dataset.

Calcification of Joints and Arteries Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Calcification of Joints and Arteries from the curated CTD Gene-Disease Associations dataset.

CHOANAL ATRESIA AND LYMPHEDEMA Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease CHOANAL ATRESIA AND LYMPHEDEMA from the curated CTD Gene-Disease Associations dataset.

Macrocephaly, Alopecia, Cutis Laxa, and Scoliosis Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Macrocephaly, Alopecia, Cutis Laxa, and Scoliosis from the curated CTD Gene-Disease Associations dataset.

Hereditary Motor And Sensory Neuropathy, Type IIC Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Hereditary Motor And Sensory Neuropathy, Type IIC from the curated CTD Gene-Disease Associations dataset.

Asthma, Nasal Polyps, And Aspirin Intolerance Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Asthma, Nasal Polyps, And Aspirin Intolerance from the curated CTD Gene-Disease Associations dataset.

Neoplasms, Germ Cell and Embryonal Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Neoplasms, Germ Cell and Embryonal from the curated CTD Gene-Disease Associations dataset.

Hereditary Motor And Sensory Neuropathy VI Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Hereditary Motor And Sensory Neuropathy VI from the curated CTD Gene-Disease Associations dataset.

Wounds and Injuries Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Wounds and Injuries from the curated CTD Gene-Disease Associations dataset.

Schizophrenia and Disorders with Psychotic Features Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Schizophrenia and Disorders with Psychotic Features from the curated CTD Gene-Disease Associations dataset.

Hypoprebetalipoproteinemia, Acanthocytosis, Retinitis Pigmentosa, And Pallidal Degeneration Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Hypoprebetalipoproteinemia, Acanthocytosis, Retinitis Pigmentosa, And Pallidal Degeneration from the curated CTD Gene-Disease Associations dataset.

Sleep Initiation and Maintenance Disorders Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Sleep Initiation and Maintenance Disorders from the curated CTD Gene-Disease Associations dataset.

Methylmalonic Aciduria and Homocystinuria, CblF Type Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Methylmalonic Aciduria and Homocystinuria, CblF Type from the curated CTD Gene-Disease Associations dataset.

Scaphocephaly, Maxillary Retrusion, And Mental Retardation Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Scaphocephaly, Maxillary Retrusion, And Mental Retardation from the curated CTD Gene-Disease Associations dataset.

Cataract and cardiomyopathy Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Cataract and cardiomyopathy from the curated CTD Gene-Disease Associations dataset.

NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IIA Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IIA from the curated CTD Gene-Disease Associations dataset.

FACTOR V AND FACTOR VIII, COMBINED DEFICIENCY OF, 1 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease FACTOR V AND FACTOR VIII, COMBINED DEFICIENCY OF, 1 from the curated CTD Gene-Disease Associations dataset.

Neuropathy, hereditary motor and sensory, Okinawa type Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Neuropathy, hereditary motor and sensory, Okinawa type from the curated CTD Gene-Disease Associations dataset.

Spastic Paraplegia, Optic Atrophy, and Neuropathy Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Spastic Paraplegia, Optic Atrophy, and Neuropathy from the curated CTD Gene-Disease Associations dataset.

Generalized Epilepsy and Paroxysmal Dyskinesia Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Generalized Epilepsy and Paroxysmal Dyskinesia from the curated CTD Gene-Disease Associations dataset.

Keratosis palmoplantaris with periodontopathia and onychogryposis Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Keratosis palmoplantaris with periodontopathia and onychogryposis from the curated CTD Gene-Disease Associations dataset.

Intracranial Embolism and Thrombosis Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Intracranial Embolism and Thrombosis from the curated CTD Gene-Disease Associations dataset.

LEUKOENCEPHALOPATHY WITH DYSTONIA AND MOTOR NEUROPATHY Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease LEUKOENCEPHALOPATHY WITH DYSTONIA AND MOTOR NEUROPATHY from the curated CTD Gene-Disease Associations dataset.

Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract from the curated CTD Gene-Disease Associations dataset.

FACTOR V AND FACTOR VIII, COMBINED DEFICIENCY OF, 2 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease FACTOR V AND FACTOR VIII, COMBINED DEFICIENCY OF, 2 from the curated CTD Gene-Disease Associations dataset.

Microtia With Nasolacrimal Duct Imperforation And Eye Coloboma Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Microtia With Nasolacrimal Duct Imperforation And Eye Coloboma from the curated CTD Gene-Disease Associations dataset.

Nevi and Melanomas Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Nevi and Melanomas from the curated CTD Gene-Disease Associations dataset.

Epilepsy, X-Linked, with Variable Learning Disabilities and Behavior Disorders Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Epilepsy, X-Linked, with Variable Learning Disabilities and Behavior Disorders from the curated CTD Gene-Disease Associations dataset.

Attention Deficit and Disruptive Behavior Disorders Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Attention Deficit and Disruptive Behavior Disorders from the curated CTD Gene-Disease Associations dataset.

Cardiomyopathy dilated with Woolly hair and keratoderma Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Cardiomyopathy dilated with Woolly hair and keratoderma from the curated CTD Gene-Disease Associations dataset.

Microcephaly, microphthalmia, ectrodactyly of lower limbs, and prognathism Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Microcephaly, microphthalmia, ectrodactyly of lower limbs, and prognathism from the curated CTD Gene-Disease Associations dataset.

Optic atrophy and cataract, autosomal dominant Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Optic atrophy and cataract, autosomal dominant from the curated CTD Gene-Disease Associations dataset.

Hypermanganesemia with Dystonia Polycythemia and Cirrhosis Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Hypermanganesemia with Dystonia Polycythemia and Cirrhosis from the curated CTD Gene-Disease Associations dataset.

Juvenile macular degeneration and hypotrichosis Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Juvenile macular degeneration and hypotrichosis from the curated CTD Gene-Disease Associations dataset.

Mullerian Aplasia and Hyperandrogenism Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Mullerian Aplasia and Hyperandrogenism from the curated CTD Gene-Disease Associations dataset.

Myopathy, Mitochondrial Progressive, With Congenital Cataract, Hearing Loss, And Developmental Delay Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Myopathy, Mitochondrial Progressive, With Congenital Cataract, Hearing Loss, And Developmental Delay from the curated CTD Gene-Disease Associations dataset.

Esophageal and Gastric Varices Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Esophageal and Gastric Varices from the curated CTD Gene-Disease Associations dataset.

NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IC Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IC from the curated CTD Gene-Disease Associations dataset.

Hypogammaglobulinemia and Isolated growth hormone deficiency, X-linked Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Hypogammaglobulinemia and Isolated growth hormone deficiency, X-linked from the curated CTD Gene-Disease Associations dataset.

Carcinoma, squamous cell of head and neck Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Carcinoma, squamous cell of head and neck from the curated CTD Gene-Disease Associations dataset.

Polycythemia, primary familial and congenital Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Polycythemia, primary familial and congenital from the curated CTD Gene-Disease Associations dataset.

Extravasation of Diagnostic and Therapeutic Materials Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Extravasation of Diagnostic and Therapeutic Materials from the curated CTD Gene-Disease Associations dataset.

Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis from the curated CTD Gene-Disease Associations dataset.

Knuckle pads, leuconychia and sensorineural deafness Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Knuckle pads, leuconychia and sensorineural deafness from the curated CTD Gene-Disease Associations dataset.

Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Mental Retardation Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Mental Retardation from the curated CTD Gene-Disease Associations dataset.

Immunodysregulation, Polyendocrinopathy, and Enteropathy, X-Linked Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Immunodysregulation, Polyendocrinopathy, and Enteropathy, X-Linked from the curated CTD Gene-Disease Associations dataset.

Hyperekplexia and Epilepsy Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Hyperekplexia and Epilepsy from the curated CTD Gene-Disease Associations dataset.

Alzheimer Disease, Familial, 3, with Spastic Paraparesis and Apraxia Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Alzheimer Disease, Familial, 3, with Spastic Paraparesis and Apraxia from the curated CTD Gene-Disease Associations dataset.

Epidermolysis Bullosa With Congenital Localized Absence Of Skin And Deformity Of Nails Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Epidermolysis Bullosa With Congenital Localized Absence Of Skin And Deformity Of Nails from the curated CTD Gene-Disease Associations dataset.

Iris hypoplasia and glaucoma Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Iris hypoplasia and glaucoma from the curated CTD Gene-Disease Associations dataset.

NATURAL KILLER CELL AND GLUCOCORTICOID DEFICIENCY WITH DNA REPAIR DEFECT Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease NATURAL KILLER CELL AND GLUCOCORTICOID DEFICIENCY WITH DNA REPAIR DEFECT from the curated CTD Gene-Disease Associations dataset.

PACHYGYRIA WITH MENTAL RETARDATION, SEIZURES, AND ARACHNOID CYSTS Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease PACHYGYRIA WITH MENTAL RETARDATION, SEIZURES, AND ARACHNOID CYSTS from the curated CTD Gene-Disease Associations dataset.

Nephropathy with Pretibial Epidermolysis Bullosa and Deafness Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Nephropathy with Pretibial Epidermolysis Bullosa and Deafness from the curated CTD Gene-Disease Associations dataset.

Lipoid Proteinosis of Urbach and Wiethe Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Lipoid Proteinosis of Urbach and Wiethe from the curated CTD Gene-Disease Associations dataset.

Hypertelorism with esophageal abnormality and hypospadias Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Hypertelorism with esophageal abnormality and hypospadias from the curated CTD Gene-Disease Associations dataset.

Bone Fragility with Contractures, Arterial Rupture, and Deafness Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Bone Fragility with Contractures, Arterial Rupture, and Deafness from the curated CTD Gene-Disease Associations dataset.

Thrombocytopenia, Platelet Dysfunction, Hemolysis, and Imbalanced Globin Synthesis Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Thrombocytopenia, Platelet Dysfunction, Hemolysis, and Imbalanced Globin Synthesis from the curated CTD Gene-Disease Associations dataset.

Neoplasms, Glandular and Epithelial Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Neoplasms, Glandular and Epithelial from the curated CTD Gene-Disease Associations dataset.

Ectodermal dysplasia, ectrodactyly, and macular dystrophy Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Ectodermal dysplasia, ectrodactyly, and macular dystrophy from the curated CTD Gene-Disease Associations dataset.

Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections, With Or Without Deafness Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections, With Or Without Deafness from the curated CTD Gene-Disease Associations dataset.

Early-onset ataxia with oculomotor apraxia and hypoalbuminemia Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Early-onset ataxia with oculomotor apraxia and hypoalbuminemia from the curated CTD Gene-Disease Associations dataset.

Pyogenic arthritis, pyoderma gangrenosum, and acne Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Pyogenic arthritis, pyoderma gangrenosum, and acne from the curated CTD Gene-Disease Associations dataset.

Epidermolysa bullosa simplex and limb girdle muscular dystrophy Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Epidermolysa bullosa simplex and limb girdle muscular dystrophy from the curated CTD Gene-Disease Associations dataset.

Cleft Palate, Isolated, And Mental Retardation Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Cleft Palate, Isolated, And Mental Retardation from the curated CTD Gene-Disease Associations dataset.

Absent radii and thrombocytopenia Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Absent radii and thrombocytopenia from the curated CTD Gene-Disease Associations dataset.

Hypercarotenemia And Vitamin A Deficiency, Autosomal Dominant Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Hypercarotenemia And Vitamin A Deficiency, Autosomal Dominant from the curated CTD Gene-Disease Associations dataset.

HEMORRHAGIC DESTRUCTION OF THE BRAIN, SUBEPENDYMAL CALCIFICATION, AND CATARACTS Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease HEMORRHAGIC DESTRUCTION OF THE BRAIN, SUBEPENDYMAL CALCIFICATION, AND CATARACTS from the curated CTD Gene-Disease Associations dataset.

Macrocephaly with Multiple Epiphyseal Dysplasia and Distinctive Facies Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Macrocephaly with Multiple Epiphyseal Dysplasia and Distinctive Facies from the curated CTD Gene-Disease Associations dataset.

STAPES ANKYLOSIS WITH BROAD THUMB AND TOES Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease STAPES ANKYLOSIS WITH BROAD THUMB AND TOES from the curated CTD Gene-Disease Associations dataset.

Cutis Laxa With Severe Pulmonary, Gastrointestinal, And Urinary Abnormalities Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Cutis Laxa With Severe Pulmonary, Gastrointestinal, And Urinary Abnormalities from the curated CTD Gene-Disease Associations dataset.

Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy from the curated CTD Gene-Disease Associations dataset.

Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance from the curated CTD Gene-Disease Associations dataset.

Alpha/Beta T-Cell Lymphopenia with Gamma/Delta T-Cell Expansion, Severe Cytomegalovirus Infection, and Autoimmunity Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Alpha/Beta T-Cell Lymphopenia with Gamma/Delta T-Cell Expansion, Severe Cytomegalovirus Infection, and Autoimmunity from the curated CTD Gene-Disease Associations dataset.

Dehydrated Hereditary Stomatocytosis, Pseudohyperkalemia, and Perinatal Edema Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Dehydrated Hereditary Stomatocytosis, Pseudohyperkalemia, and Perinatal Edema from the curated CTD Gene-Disease Associations dataset.

Mental Retardation, Severe, With Spasticity And Pigmentary Tapetoretinal Degeneration Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Mental Retardation, Severe, With Spasticity And Pigmentary Tapetoretinal Degeneration from the curated CTD Gene-Disease Associations dataset.

Signs and Symptoms, Respiratory Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Signs and Symptoms, Respiratory from the curated CTD Gene-Disease Associations dataset.

Neuropathy, hereditary motor and sensory, LOM type Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Neuropathy, hereditary motor and sensory, LOM type from the curated CTD Gene-Disease Associations dataset.

Nephroblastomatosis, fetal ascites, macrosomia and Wilms tumor Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Nephroblastomatosis, fetal ascites, macrosomia and Wilms tumor from the curated CTD Gene-Disease Associations dataset.

Hereditary Angioedema Types I and II Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Hereditary Angioedema Types I and II from the curated CTD Gene-Disease Associations dataset.

Drug-Related Side Effects and Adverse Reactions Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Drug-Related Side Effects and Adverse Reactions from the curated CTD Gene-Disease Associations dataset.

Insect Bites and Stings Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Insect Bites and Stings from the curated CTD Gene-Disease Associations dataset.

T-cell immunodeficiency, congenital alopecia and nail dystrophy Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease T-cell immunodeficiency, congenital alopecia and nail dystrophy from the curated CTD Gene-Disease Associations dataset.

Foveal Hypoplasia and Anterior Segment Dysgenesis Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Foveal Hypoplasia and Anterior Segment Dysgenesis from the curated CTD Gene-Disease Associations dataset.

Cubitus Valgus with Mental Retardation and Unusual Facies Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Cubitus Valgus with Mental Retardation and Unusual Facies from the curated CTD Gene-Disease Associations dataset.

Ophthalmoplegia, External, and Myopia Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Ophthalmoplegia, External, and Myopia from the curated CTD Gene-Disease Associations dataset.

Deafness, Sensorineural, And Male Infertility Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Deafness, Sensorineural, And Male Infertility from the curated CTD Gene-Disease Associations dataset.

Hereditary Sensory and Autonomic Neuropathies Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Hereditary Sensory and Autonomic Neuropathies from the curated CTD Gene-Disease Associations dataset.

Histiocytosis with joint contractures and sensorineural deafness Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Histiocytosis with joint contractures and sensorineural deafness from the curated CTD Gene-Disease Associations dataset.

Rolandic Epilepsy, Mental Retardation, and Speech Dyspraxia, X-Linked Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Rolandic Epilepsy, Mental Retardation, and Speech Dyspraxia, X-Linked from the curated CTD Gene-Disease Associations dataset.

Leiomyomatosis, esophageal and vulval, with nephropathy Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Leiomyomatosis, esophageal and vulval, with nephropathy from the curated CTD Gene-Disease Associations dataset.

Growth Retardation, Developmental Delay, Coarse Facies, And Early Death Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Growth Retardation, Developmental Delay, Coarse Facies, And Early Death from the curated CTD Gene-Disease Associations dataset.

Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis from the curated CTD Gene-Disease Associations dataset.

Embolism and Thrombosis Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Embolism and Thrombosis from the curated CTD Gene-Disease Associations dataset.

Religion and Psychology Gene Set

From dbGAP Gene-Trait Associations

genes associated with the trait Religion and Psychology in GWAS and other genetic association datasets from the dbGAP Gene-Trait Associations dataset.

Attention Deficit and Disruptive Behavior Disorders Gene Set

From dbGAP Gene-Trait Associations

genes associated with the trait Attention Deficit and Disruptive Behavior Disorders in GWAS and other genetic association datasets from the dbGAP Gene-Trait Associations dataset.

Body Weights and Measures Gene Set

From dbGAP Gene-Trait Associations

genes associated with the trait Body Weights and Measures in GWAS and other genetic association datasets from the dbGAP Gene-Trait Associations dataset.

Nevi and Melanomas Gene Set

From dbGAP Gene-Trait Associations

genes associated with the trait Nevi and Melanomas in GWAS and other genetic association datasets from the dbGAP Gene-Trait Associations dataset.

Head and Neck Neoplasms Gene Set

From dbGAP Gene-Trait Associations

genes associated with the trait Head and Neck Neoplasms in GWAS and other genetic association datasets from the dbGAP Gene-Trait Associations dataset.

degeneration of macula and posterior pole Gene Set

From DISEASES Curated Gene-Disease Assocation Evidence Scores

genes involed in the disease degeneration of macula and posterior pole from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.

eye and adnexa disease Gene Set

From DISEASES Curated Gene-Disease Assocation Evidence Scores

genes involed in the disease eye and adnexa disease from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.

combined t cell and b cell immunodeficiency Gene Set

From DISEASES Curated Gene-Disease Assocation Evidence Scores

genes involed in the disease combined t cell and b cell immunodeficiency from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.

eye and adnexa disease Gene Set

From DISEASES Experimental Gene-Disease Assocation Evidence Scores

genes associated with the disease eye and adnexa disease in GWAS datasets from the DISEASES Experimental Gene-Disease Assocation Evidence Scores dataset.

inflammatory and toxic neuropathy Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

genes co-occuring with the disease inflammatory and toxic neuropathy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

mucinous tubular and spindle renal cell carcinoma Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

genes co-occuring with the disease mucinous tubular and spindle renal cell carcinoma in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

pustulosis of palm and sole Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

genes co-occuring with the disease pustulosis of palm and sole in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

hand, foot and mouth disease Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

genes co-occuring with the disease hand, foot and mouth disease in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

extrapyramidal and movement disease Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

genes co-occuring with the disease extrapyramidal and movement disease in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

mononeuritis of upper limb and mononeuritis multiplex Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

genes co-occuring with the disease mononeuritis of upper limb and mononeuritis multiplex in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

lung mixed small cell and squamous cell carcinoma Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

genes co-occuring with the disease lung mixed small cell and squamous cell carcinoma in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

autoimmune disease of skin and connective tissue Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

genes co-occuring with the disease autoimmune disease of skin and connective tissue in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

histiocytic and dendritic cell cancer Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

genes co-occuring with the disease histiocytic and dendritic cell cancer in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

methylmalonic aciduria and homocystinuria type cblc Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

genes co-occuring with the disease methylmalonic aciduria and homocystinuria type cblc in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

germ cell and embryonal cancer Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

genes co-occuring with the disease germ cell and embryonal cancer in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

mixed endometrial stromal and smooth muscle tumor Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

genes co-occuring with the disease mixed endometrial stromal and smooth muscle tumor in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

spinal canal and spinal cord meningioma Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

genes co-occuring with the disease spinal canal and spinal cord meningioma in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

ovarian germ cell monodermal and highly specialized teratoma Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

genes co-occuring with the disease ovarian germ cell monodermal and highly specialized teratoma in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

degeneration of macula and posterior pole Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

genes co-occuring with the disease degeneration of macula and posterior pole in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

combined t cell and b cell immunodeficiency Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

genes co-occuring with the disease combined t cell and b cell immunodeficiency in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

mature t-cell and nk-cell lymphoma Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

genes co-occuring with the disease mature t-cell and nk-cell lymphoma in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

eye and adnexa disease Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

genes co-occuring with the disease eye and adnexa disease in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

breast and lung cancer Gene Set

From GAD Gene-Disease Associations

genes associated with the disease breast and lung cancer in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

increased chromosome aberrations and higher lung cancer risk Gene Set

From GAD Gene-Disease Associations

genes associated with the disease increased chromosome aberrations and higher lung cancer risk in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

factor viii and factor ix genes Gene Set

From GAD Gene-Disease Associations

genes associated with the disease factor viii and factor ix genes in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

flecainide and paroxetine Gene Set

From GAD Gene-Disease Associations

genes associated with the disease flecainide and paroxetine in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

pre-term delivery infant mortality and malaria morbidity Gene Set

From GAD Gene-Disease Associations

genes associated with the disease pre-term delivery infant mortality and malaria morbidity in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

alopecia and lumbar herniated disk Gene Set

From GAD Gene-Disease Associations

genes associated with the disease alopecia and lumbar herniated disk in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

baroreflex and blood pressure regulation Gene Set

From GAD Gene-Disease Associations

genes associated with the disease baroreflex and blood pressure regulation in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

neuropathy, hereditary motor and sensory Gene Set

From GAD Gene-Disease Associations

genes associated with the disease neuropathy, hereditary motor and sensory in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

platelet reactivity and clopidogrel resistance Gene Set

From GAD Gene-Disease Associations

genes associated with the disease platelet reactivity and clopidogrel resistance in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

chromosome aberrations; chromosome abnormality; neoplasms, germ cell and embryonal; neoplasms, testis; testicular neoplasms Gene Set

From GAD Gene-Disease Associations

genes associated with the disease chromosome aberrations; chromosome abnormality; neoplasms, germ cell and embryonal; neoplasms, testis; testicular neoplasms in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

low mpa exposure and acute rejection in mmf/tacrolimus-treated kidney transplant patients Gene Set

From GAD Gene-Disease Associations

genes associated with the disease low mpa exposure and acute rejection in mmf/tacrolimus-treated kidney transplant patients in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

multisystem atrophy, progressive supranuclear palsy and corticobasal degeneration Gene Set

From GAD Gene-Disease Associations

genes associated with the disease multisystem atrophy, progressive supranuclear palsy and corticobasal degeneration in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

anovulation and fecundity Gene Set

From GAD Gene-Disease Associations

genes associated with the disease anovulation and fecundity in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

proteinuria and cardiovascular disease Gene Set

From GAD Gene-Disease Associations

genes associated with the disease proteinuria and cardiovascular disease in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

thyroid and neurological abnormalities Gene Set

From GAD Gene-Disease Associations

genes associated with the disease thyroid and neurological abnormalities in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

homocysteine, folate and vitamin b12 levels Gene Set

From GAD Gene-Disease Associations

genes associated with the disease homocysteine, folate and vitamin b12 levels in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

hypertension and obesity Gene Set

From GAD Gene-Disease Associations

genes associated with the disease hypertension and obesity in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

child hyperactivity-impulsivity and oppositional behaviors Gene Set

From GAD Gene-Disease Associations

genes associated with the disease child hyperactivity-impulsivity and oppositional behaviors in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

head and neck squamous cell carcinoma Gene Set

From GAD Gene-Disease Associations

genes associated with the disease head and neck squamous cell carcinoma in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

asthma and atopy Gene Set

From GAD Gene-Disease Associations

genes associated with the disease asthma and atopy in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

hiv-rna and cellular hiv-dna levels Gene Set

From GAD Gene-Disease Associations

genes associated with the disease hiv-rna and cellular hiv-dna levels in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

insulin release and insulin sensitivity Gene Set

From GAD Gene-Disease Associations

genes associated with the disease insulin release and insulin sensitivity in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

hip bone loss and fracture Gene Set

From GAD Gene-Disease Associations

genes associated with the disease hip bone loss and fracture in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

risperidone and perospirone Gene Set

From GAD Gene-Disease Associations

genes associated with the disease risperidone and perospirone in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

infectious risk and outcome in surgical intensive care patients Gene Set

From GAD Gene-Disease Associations

genes associated with the disease infectious risk and outcome in surgical intensive care patients in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

cleft lip and palate Gene Set

From GAD Gene-Disease Associations

genes associated with the disease cleft lip and palate in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

reduced muscle mrna levels and insulin resistance Gene Set

From GAD Gene-Disease Associations

genes associated with the disease reduced muscle mrna levels and insulin resistance in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

hemostatic factors and hematological phenotypes Gene Set

From GAD Gene-Disease Associations

genes associated with the disease hemostatic factors and hematological phenotypes in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

reduced gene expression and lower plasma levels of beta2-glycoprotein i Gene Set

From GAD Gene-Disease Associations

genes associated with the disease reduced gene expression and lower plasma levels of beta2-glycoprotein i in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

menarche and menopause (age at onset) Gene Set

From GAD Gene-Disease Associations

genes associated with the disease menarche and menopause (age at onset) in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

multiple organ failure; sepsis; shock, septic; wounds and injuries Gene Set

From GAD Gene-Disease Associations

genes associated with the disease multiple organ failure; sepsis; shock, septic; wounds and injuries in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

dna damage; head and neck neoplasms Gene Set

From GAD Gene-Disease Associations

genes associated with the disease dna damage; head and neck neoplasms in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

carcinoma, squamous cell; head and neck neoplasms; neoplasms, second primary; squamous cell carcinoma Gene Set

From GAD Gene-Disease Associations

genes associated with the disease carcinoma, squamous cell; head and neck neoplasms; neoplasms, second primary; squamous cell carcinoma in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

adiposity and abdominal obesity Gene Set

From GAD Gene-Disease Associations

genes associated with the disease adiposity and abdominal obesity in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

breast and carcinoma Gene Set

From GAD Gene-Disease Associations

genes associated with the disease breast and carcinoma in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

tropical pancreatitis and type ii diabetes mellitus Gene Set

From GAD Gene-Disease Associations

genes associated with the disease tropical pancreatitis and type ii diabetes mellitus in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

polymyositis and dermatomyositis. Gene Set

From GAD Gene-Disease Associations

genes associated with the disease polymyositis and dermatomyositis. in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

head and neck neoplasms; neoplasms, squamous cell Gene Set

From GAD Gene-Disease Associations

genes associated with the disease head and neck neoplasms; neoplasms, squamous cell in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

asthma; atopy; dermatitis and eczema Gene Set

From GAD Gene-Disease Associations

genes associated with the disease asthma; atopy; dermatitis and eczema in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

multiple organ failure; sepsis; wounds and injuries Gene Set

From GAD Gene-Disease Associations

genes associated with the disease multiple organ failure; sepsis; wounds and injuries in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

head and neck neoplasms; inflammation Gene Set

From GAD Gene-Disease Associations

genes associated with the disease head and neck neoplasms; inflammation in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

non-syndromic cleft lip and palate Gene Set

From GAD Gene-Disease Associations

genes associated with the disease non-syndromic cleft lip and palate in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

postoperative nausea and vomiting Gene Set

From GAD Gene-Disease Associations

genes associated with the disease postoperative nausea and vomiting in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

calcium homeostasis and peripheral bone density Gene Set

From GAD Gene-Disease Associations

genes associated with the disease calcium homeostasis and peripheral bone density in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

colorectal adenomatous polyps and adenocarcinoma Gene Set

From GAD Gene-Disease Associations

genes associated with the disease colorectal adenomatous polyps and adenocarcinoma in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

insulin and homa levels Gene Set

From GAD Gene-Disease Associations

genes associated with the disease insulin and homa levels in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

financial and psychological risk attitudes Gene Set

From GAD Gene-Disease Associations

genes associated with the disease financial and psychological risk attitudes in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

mother and child behavior Gene Set

From GAD Gene-Disease Associations

genes associated with the disease mother and child behavior in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

rna expression of carboxylesterases 1 and 2. Gene Set

From GAD Gene-Disease Associations

genes associated with the disease rna expression of carboxylesterases 1 and 2. in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

cigarette smoking behavior and reward Gene Set

From GAD Gene-Disease Associations

genes associated with the disease cigarette smoking behavior and reward in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

carcinoma, squamous cell; chromosome deletion; head and neck neoplasms; squamous cell carcinoma Gene Set

From GAD Gene-Disease Associations

genes associated with the disease carcinoma, squamous cell; chromosome deletion; head and neck neoplasms; squamous cell carcinoma in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

serum estrogen and progesterone concentrations Gene Set

From GAD Gene-Disease Associations

genes associated with the disease serum estrogen and progesterone concentrations in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

quantitative variation in lipid and lipoprotein traits Gene Set

From GAD Gene-Disease Associations

genes associated with the disease quantitative variation in lipid and lipoprotein traits in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

carcinoma, squamous cell; head and neck neoplasms; squamous cell carcinoma; tobacco use disorder Gene Set

From GAD Gene-Disease Associations

genes associated with the disease carcinoma, squamous cell; head and neck neoplasms; squamous cell carcinoma; tobacco use disorder in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

chiari type i malformation and syringomyelia Gene Set

From GAD Gene-Disease Associations

genes associated with the disease chiari type i malformation and syringomyelia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

adenocarcinoma; carcinoma, small cell; carcinoma, squamous cell; head and neck neoplasms; lung neoplasms Gene Set

From GAD Gene-Disease Associations

genes associated with the disease adenocarcinoma; carcinoma, small cell; carcinoma, squamous cell; head and neck neoplasms; lung neoplasms in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

hunger and satiety Gene Set

From GAD Gene-Disease Associations

genes associated with the disease hunger and satiety in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

cleft palate and calvaria defects. Gene Set

From GAD Gene-Disease Associations

genes associated with the disease cleft palate and calvaria defects. in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

lung cancer susceptibility and prognosis Gene Set

From GAD Gene-Disease Associations

genes associated with the disease lung cancer susceptibility and prognosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

hypertrophic cardiomyopathy and cytochrome c oxidase deficiency Gene Set

From GAD Gene-Disease Associations

genes associated with the disease hypertrophic cardiomyopathy and cytochrome c oxidase deficiency in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

endometriosis; neoplasms, glandular and epithelial; ovarian neoplasm; ovarian neoplasms Gene Set

From GAD Gene-Disease Associations

genes associated with the disease endometriosis; neoplasms, glandular and epithelial; ovarian neoplasm; ovarian neoplasms in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

lung cancer; colorectal cancer; esophageal cancer; head and neck cancer Gene Set

From GAD Gene-Disease Associations

genes associated with the disease lung cancer; colorectal cancer; esophageal cancer; head and neck cancer in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

proximal chromosome 9p to q and distal chromosome 9q Gene Set

From GAD Gene-Disease Associations

genes associated with the disease proximal chromosome 9p to q and distal chromosome 9q in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

loperamide disposition and central nervous system effects. Gene Set

From GAD Gene-Disease Associations

genes associated with the disease loperamide disposition and central nervous system effects. in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

cutaneous and uterine leiomyomata Gene Set

From GAD Gene-Disease Associations

genes associated with the disease cutaneous and uterine leiomyomata in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

major and bipolar depressives Gene Set

From GAD Gene-Disease Associations

genes associated with the disease major and bipolar depressives in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

plasma glucose, basal hepatic glucose and increased insulin release Gene Set

From GAD Gene-Disease Associations

genes associated with the disease plasma glucose, basal hepatic glucose and increased insulin release in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

recurrence and early onset of venous thrombosis Gene Set

From GAD Gene-Disease Associations

genes associated with the disease recurrence and early onset of venous thrombosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

normal and arrhythmia Gene Set

From GAD Gene-Disease Associations

genes associated with the disease normal and arrhythmia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

fasting total cholesterol and ldl-cholesterol concentrations only Gene Set

From GAD Gene-Disease Associations

genes associated with the disease fasting total cholesterol and ldl-cholesterol concentrations only in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

genetically deficient metabolism of debrisoquine and other drugs Gene Set

From GAD Gene-Disease Associations

genes associated with the disease genetically deficient metabolism of debrisoquine and other drugs in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.