Name

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 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 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.

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.

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.

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.

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.

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.

?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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

?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.

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.

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.

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.

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.

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.

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.

Myasthenic syndrome, presynaptic, congenital, with or without motor neuropathy Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Myasthenic syndrome, presynaptic, congenital, with or without motor neuropathy phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria) Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria) phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Nephrotic syndrome, type 5, with or without ocular abnormalities Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Nephrotic syndrome, type 5, with or without ocular abnormalities phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA from the curated CTD Gene-Disease Associations dataset.

MITOCHONDRIAL DNA DEPLETION SYNDROME 5 (ENCEPHALOMYOPATHIC WITH OR WITHOUT METHYLMALONIC ACIDURIA) Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease MITOCHONDRIAL DNA DEPLETION SYNDROME 5 (ENCEPHALOMYOPATHIC WITH OR WITHOUT METHYLMALONIC ACIDURIA) from the curated CTD Gene-Disease Associations dataset.

colorectal cancer; tourette syndrome; bone density; pregnancy loss, recurrent; cleft lip without cleft palate; juvenile polyposis; cleft palate Gene Set

From GAD Gene-Disease Associations

genes associated with the disease colorectal cancer; tourette syndrome; bone density; pregnancy loss, recurrent; cleft lip without cleft palate; juvenile polyposis; cleft palate in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

central hypoventilation syndrome, congenital, with or without hirschsprung disease Gene Set

From OMIM Gene-Disease Associations

genes associated with the central hypoventilation syndrome, congenital, with or without hirschsprung disease phenotype from the curated OMIM Gene-Disease Associations dataset.

waardenburg syndrome, type 2e, with or without neurologic involvement Gene Set

From OMIM Gene-Disease Associations

genes associated with the waardenburg syndrome, type 2e, with or without neurologic involvement phenotype from the curated OMIM Gene-Disease Associations dataset.

leukemia, megakaryoblastic, with or without down syndrome, somatic Gene Set

From OMIM Gene-Disease Associations

genes associated with the leukemia, megakaryoblastic, with or without down syndrome, somatic phenotype from the curated OMIM Gene-Disease Associations dataset.

autoimmune polyendocrinopathy syndrome , type i, with or without reversible metaphyseal dysplasia Gene Set

From OMIM Gene-Disease Associations

genes associated with the autoimmune polyendocrinopathy syndrome , type i, with or without reversible metaphyseal dysplasia phenotype from the curated OMIM Gene-Disease Associations dataset.

noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia Gene Set

From OMIM Gene-Disease Associations

genes associated with the noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia phenotype from the curated OMIM Gene-Disease Associations dataset.

hypogonadotropic hypogonadism 1 with or without anosmia (kallmann syndrome 1) Gene Set

From OMIM Gene-Disease Associations

genes associated with the hypogonadotropic hypogonadism 1 with or without anosmia (kallmann syndrome 1) phenotype from the curated OMIM Gene-Disease Associations dataset.

branchiootorenal syndrome 1, with or without cataracts Gene Set

From OMIM Gene-Disease Associations

genes associated with the branchiootorenal syndrome 1, with or without cataracts phenotype from the curated OMIM Gene-Disease Associations dataset.

mcleod syndrome with or without chronic granulomatous disease Gene Set

From OMIM Gene-Disease Associations

genes associated with the mcleod syndrome with or without chronic granulomatous disease phenotype from the curated OMIM Gene-Disease Associations dataset.

mitochondrial dna depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria) Gene Set

From OMIM Gene-Disease Associations

genes associated with the mitochondrial dna depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria) phenotype from the curated OMIM Gene-Disease Associations dataset.

myasthenic syndrome, presynaptic, congenital, with or without motor neuropathy Gene Set

From OMIM Gene-Disease Associations

genes associated with the myasthenic syndrome, presynaptic, congenital, with or without motor neuropathy phenotype from the curated OMIM Gene-Disease Associations dataset.

nephrotic syndrome, type 5, with or without ocular abnormalities Gene Set

From OMIM Gene-Disease Associations

genes associated with the nephrotic syndrome, type 5, with or without ocular abnormalities phenotype from the curated OMIM Gene-Disease Associations 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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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; 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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

Bronchiectasis with or without elevated sweat chloride 3 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Bronchiectasis with or without elevated sweat chloride 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Woolly hair, autosomal recessive 2, with or without hypotrichosis Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Woolly hair, autosomal recessive 2, with or without hypotrichosis 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.

Atrial septal defect 7 with or without atrioventricular conduction defects Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Atrial septal defect 7 with or without atrioventricular conduction defects phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Hypogonadotropic hypogonadism 12 with or without anosmia Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Hypogonadotropic hypogonadism 12 with or without anosmia phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Leukoencephalopathy, cystic, without megalencephaly Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Leukoencephalopathy, cystic, without megalencephaly phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Dystonia, dopa-responsive, with or without hyperphenylalaninemia, autosomal recessive Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Dystonia, dopa-responsive, with or without hyperphenylalaninemia, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Cognitive impairment with or without cerebellar ataxia Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Cognitive impairment with or without cerebellar ataxia phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Hypogonadotropic hypogonadism 19 with or without anosmia Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Hypogonadotropic hypogonadism 19 with or without anosmia phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Hypogonadotropic hypogonadism 17 with or without anosmia Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Hypogonadotropic hypogonadism 17 with or without anosmia phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Epilepsy, progressive myoclonic 4, with or without renal failure Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Epilepsy, progressive myoclonic 4, with or without renal failure phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Bronchiectasis with or without elevated sweat chloride 2 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Bronchiectasis with or without elevated sweat chloride 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Deafness, without vestibular involvement, autosomal dominant Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Deafness, without vestibular involvement, autosomal dominant phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Short-rib thoracic dysplasia 11 with or without polydactyly Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Short-rib thoracic dysplasia 11 with or without polydactyly phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Capillary malformation without arteriovenous malformation Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Capillary malformation without arteriovenous malformation phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Fibrosis of extraocular muscles, congenital, 3a, with or without extraocular involvement Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Fibrosis of extraocular muscles, congenital, 3a, with or without extraocular involvement phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Acrodysostosis 2, with or without hormone resistance Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Acrodysostosis 2, with or without hormone resistance phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Hypogonadotropic hypogonadism 13 with or without anosmia Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Hypogonadotropic hypogonadism 13 with or without anosmia phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Congenital muscular dystrophy-dystroglycanopathy without mental retardation, type B5 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Congenital muscular dystrophy-dystroglycanopathy without mental retardation, type B5 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

X-linked mental retardation, with or without seizures, ARX-related Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the X-linked mental retardation, with or without seizures, ARX-related phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Hypogonadotropic hypogonadism 10 with or without anosmia Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Hypogonadotropic hypogonadism 10 with or without anosmia phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Short-rib thoracic dysplasia 10 with or without polydactyly Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Short-rib thoracic dysplasia 10 with or without polydactyly phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Adult i Blood Group with or without Congenital Cataract Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Adult i Blood Group with or without Congenital Cataract phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Focal epilepsy with speech disorder with or without mental retardation Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Focal epilepsy with speech disorder with or without mental retardation phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Hypogonadotropic hypogonadism 11 with or without anosmia Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Hypogonadotropic hypogonadism 11 with or without anosmia phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 3 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 2 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Amyotrophic lateral sclerosis 15, with or without frontotemporal dementia Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Amyotrophic lateral sclerosis 15, with or without frontotemporal dementia phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Short-rib thoracic dysplasia 3 with or without polydactyly Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Short-rib thoracic dysplasia 3 with or without polydactyly phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Immunodeficiency 26 with or without neurologic abnormalities Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Immunodeficiency 26 with or without neurologic abnormalities phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Goiter, multinodular 1, with or without sertoli-leydig cell tumors Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Goiter, multinodular 1, with or without sertoli-leydig cell tumors phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Polyglucosan body myopathy, early-onset, with or without immunodeficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Polyglucosan body myopathy, early-onset, with or without immunodeficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Ventricular tachycardia, catecholaminergic polymorphic, 5, with or without muscle weakness Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Ventricular tachycardia, catecholaminergic polymorphic, 5, with or without muscle weakness phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

H2AX complex, isolated from cells without IR exposure Gene Set

From CORUM Protein Complexes

proteins in the H2AX complex, isolated from cells without IR exposure protein complex from the CORUM Protein Complexes dataset.

DEAFNESS, AUTOSOMAL RECESSIVE 36, WITH OR WITHOUT VESTIBULAR INVOLVEMENT Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease DEAFNESS, AUTOSOMAL RECESSIVE 36, WITH OR WITHOUT VESTIBULAR INVOLVEMENT from the curated CTD Gene-Disease Associations dataset.

Leukoencephalopathy, Cystic, Without Megalencephaly Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Leukoencephalopathy, Cystic, Without Megalencephaly 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.

Migraine without Aura Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Migraine without Aura from the curated CTD Gene-Disease Associations dataset.

EPILEPSY, PROGRESSIVE MYOCLONIC, 3, WITH OR WITHOUT INTRACELLULAR INCLUSIONS Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease EPILEPSY, PROGRESSIVE MYOCLONIC, 3, WITH OR WITHOUT INTRACELLULAR INCLUSIONS from the curated CTD Gene-Disease Associations dataset.

Bronchiectasis With Or Without Elevated Sweat Chloride 1 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Bronchiectasis With Or Without Elevated Sweat Chloride 1 from the curated CTD Gene-Disease Associations dataset.

Bronchiectasis With Or Without Elevated Sweat Chloride 2 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Bronchiectasis With Or Without Elevated Sweat Chloride 2 from the curated CTD Gene-Disease Associations dataset.

Bronchiectasis With Or Without Elevated Sweat Chloride 3 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Bronchiectasis With Or Without Elevated Sweat Chloride 3 from the curated CTD Gene-Disease Associations dataset.

Immunodeficiency without anhidrotic ectodermal dysplasia Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Immunodeficiency without anhidrotic ectodermal dysplasia from the curated CTD Gene-Disease Associations dataset.

HYPERPIGMENTATION WITH OR WITHOUT HYPOPIGMENTATION, FAMILIAL PROGRESSIVE Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease HYPERPIGMENTATION WITH OR WITHOUT HYPOPIGMENTATION, FAMILIAL PROGRESSIVE 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.

EPILEPSY, PROGRESSIVE MYOCLONIC, 4, WITH OR WITHOUT RENAL FAILURE Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease EPILEPSY, PROGRESSIVE MYOCLONIC, 4, WITH OR WITHOUT RENAL FAILURE from the curated CTD Gene-Disease Associations dataset.

Fibrosis Of Extraocular Muscles, Congenital, 3A, with or without Extraocular Involvement Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Fibrosis Of Extraocular Muscles, Congenital, 3A, with or without Extraocular Involvement from the curated CTD Gene-Disease Associations dataset.

Metaphyseal Dysplasia without Hypotrichosis Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Metaphyseal Dysplasia without Hypotrichosis from the curated CTD Gene-Disease Associations dataset.

Mental Retardation, X-Linked, With Or Without Seizures, Arx-Related Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Mental Retardation, X-Linked, With Or Without Seizures, Arx-Related from the curated CTD Gene-Disease Associations dataset.

MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH OR WITHOUT MENTAL RETARDATION), TYPE B, 5 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH OR WITHOUT MENTAL RETARDATION), TYPE B, 5 from the curated CTD Gene-Disease Associations dataset.

PULMONARY HYPERTENSION, CHRONIC THROMBOEMBOLIC, WITHOUT DEEP VEIN THROMBOSIS, SUSCEPTIBILITY TO Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease PULMONARY HYPERTENSION, CHRONIC THROMBOEMBOLIC, WITHOUT DEEP VEIN THROMBOSIS, SUSCEPTIBILITY TO 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.

MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITHOUT MENTAL RETARDATION), TYPE B, 4 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITHOUT MENTAL RETARDATION), TYPE B, 4 from the curated CTD Gene-Disease Associations dataset.

THROMBOCYTOPENIA, X-LINKED, WITH OR WITHOUT DYSERYTHROPOIETIC ANEMIA Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease THROMBOCYTOPENIA, X-LINKED, WITH OR WITHOUT DYSERYTHROPOIETIC ANEMIA from the curated CTD Gene-Disease Associations dataset.

Nonmedullary thyroid carcinoma, with or without cell oxyphilia Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Nonmedullary thyroid carcinoma, with or without cell oxyphilia from the curated CTD Gene-Disease Associations dataset.

SHORT-RIB THORACIC DYSPLASIA 3 WITH OR WITHOUT POLYDACTYLY Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease SHORT-RIB THORACIC DYSPLASIA 3 WITH OR WITHOUT POLYDACTYLY from the curated CTD Gene-Disease Associations dataset.

Hypertrichosis Terminalis, Generalized, with or without Gingival Hyperplasia Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Hypertrichosis Terminalis, Generalized, with or without Gingival Hyperplasia from the curated CTD Gene-Disease Associations dataset.

ATRIAL SEPTAL DEFECT 7 WITH OR WITHOUT ATRIOVENTRICULAR CONDUCTION DEFECTS Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease ATRIAL SEPTAL DEFECT 7 WITH OR WITHOUT ATRIOVENTRICULAR CONDUCTION DEFECTS from the curated CTD Gene-Disease Associations dataset.

Migraine without Aura Gene Set

From dbGAP Gene-Trait Associations

genes associated with the trait Migraine without Aura in GWAS and other genetic association datasets from the dbGAP Gene-Trait Associations dataset.

migraine without aura Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

genes co-occuring with the disease migraine without aura in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

cleft lip with cleft palate; cleft lip without cleft palate; cleft palate Gene Set

From GAD Gene-Disease Associations

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

salmeterol with or without fluticasone propionate Gene Set

From GAD Gene-Disease Associations

genes associated with the disease salmeterol with or without fluticasone propionate in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

migraine disorders; migraine with aura; migraine without aura; tension-type headache Gene Set

From GAD Gene-Disease Associations

genes associated with the disease migraine disorders; migraine with aura; migraine without aura; tension-type headache in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

cleft lip with or without cleft palate; cleft palate, isolated Gene Set

From GAD Gene-Disease Associations

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

cleft lip with cleft palate; cleft lip without cleft palate; cleft lip Gene Set

From GAD Gene-Disease Associations

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

hiv; tuberculosis; cleft lip with cleft palate; cleft lip without cleft palate Gene Set

From GAD Gene-Disease Associations

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

migraine without aura Gene Set

From GAD Gene-Disease Associations

genes associated with the disease migraine without aura in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

migraine with aura; migraine without aura Gene Set

From GAD Gene-Disease Associations

genes associated with the disease migraine with aura; migraine without aura in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

cleft lip with cleft palate; cleft lip without cleft palate Gene Set

From GAD Gene-Disease Associations

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

cleft lip with or without cleft palate Gene Set

From GAD Gene-Disease Associations

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

nonsyndromic cleft lipor without cleft palate Gene Set

From GAD Gene-Disease Associations

genes associated with the disease nonsyndromic cleft lipor without cleft palate in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

migraine with and without aura Gene Set

From GAD Gene-Disease Associations

genes associated with the disease migraine with and without aura in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

cleft lip without cleft palate; cleft palate Gene Set

From GAD Gene-Disease Associations

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

migraine disorders; migraine with aura; migraine without aura Gene Set

From GAD Gene-Disease Associations

genes associated with the disease migraine disorders; migraine with aura; migraine without aura in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

neural tube defects; cleft lip with cleft palate; cleft lip without cleft palate Gene Set

From GAD Gene-Disease Associations

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

alcohol dependence, panic disorder without agoraphobia, generalized anxiety disorder, narcolepsy Gene Set

From GAD Gene-Disease Associations

genes associated with the disease alcohol dependence, panic disorder without agoraphobia, generalized anxiety disorder, narcolepsy in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

nonsyndromic cleft lip with or without cleft palate Gene Set

From GAD Gene-Disease Associations

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

without Gene Set

From GeneRIF Biological Term Annotations

genes co-occuring with the biological term without in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset.

cell cycle comprising mitosis without cytokinesis Gene Set

From GO Biological Process Annotations

genes participating in the cell cycle comprising mitosis without cytokinesis biological process from the curated GO Biological Process Annotations dataset.

Migraine without aura Gene Set

From GWAS Catalog SNP-Phenotype Associations

genes associated with the Migraine without aura phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations dataset.

migraine without aura Gene Set

From GWASdb SNP-Disease Associations

genes associated with the disease migraine without aura in GWAS and other genetic association datasets from the GWASdb SNP-Disease Associations dataset.

migraine without aura Gene Set

From GWASdb SNP-Phenotype Associations

genes associated with the migraine without aura phenotype in GWAS datasets from the GWASdb SNP-Phenotype Associations dataset.

focal seizures without impairment of consciousness or awareness Gene Set

From HPO Gene-Disease Associations

genes associated with the focal seizures without impairment of consciousness or awareness phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

migraine without aura Gene Set

From HPO Gene-Disease Associations

genes associated with the migraine without aura phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Migraine without Aura Gene Set

From HuGE Navigator Gene-Phenotype Associations

genes associated with the Migraine without Aura phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset.

epilepsy, progressive myoclonic 3, with or without intracellular inclusions Gene Set

From OMIM Gene-Disease Associations

genes associated with the epilepsy, progressive myoclonic 3, with or without intracellular inclusions phenotype from the curated OMIM Gene-Disease Associations dataset.

cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 1 Gene Set

From OMIM Gene-Disease Associations

genes associated with the cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 1 phenotype from the curated OMIM Gene-Disease Associations dataset.

{hypogonadotropic hypogonadism 15 with or without anosmia} Gene Set

From OMIM Gene-Disease Associations

genes associated with the {hypogonadotropic hypogonadism 15 with or without anosmia} phenotype from the curated OMIM Gene-Disease Associations dataset.

spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures Gene Set

From OMIM Gene-Disease Associations

genes associated with the spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures phenotype from the curated OMIM Gene-Disease Associations dataset.

short-rib thoracic dysplasia 10 with or without polydactyly Gene Set

From OMIM Gene-Disease Associations

genes associated with the short-rib thoracic dysplasia 10 with or without polydactyly phenotype from the curated OMIM Gene-Disease Associations dataset.

paragangliomas 1, with or without deafness Gene Set

From OMIM Gene-Disease Associations

genes associated with the paragangliomas 1, with or without deafness phenotype from the curated OMIM Gene-Disease Associations dataset.

metaphyseal dysplasia without hypotrichosis Gene Set

From OMIM Gene-Disease Associations

genes associated with the metaphyseal dysplasia without hypotrichosis phenotype from the curated OMIM Gene-Disease Associations dataset.

short-rib thoracic dysplasia 4 with or without polydactyly Gene Set

From OMIM Gene-Disease Associations

genes associated with the short-rib thoracic dysplasia 4 with or without polydactyly phenotype from the curated OMIM Gene-Disease Associations dataset.

hypogonadotropic hypogonadism 14 with or without anosmia Gene Set

From OMIM Gene-Disease Associations

genes associated with the hypogonadotropic hypogonadism 14 with or without anosmia phenotype from the curated OMIM Gene-Disease Associations dataset.

microcephaly 2, primary, autosomal recessive, with or without cortical malformations Gene Set

From OMIM Gene-Disease Associations

genes associated with the microcephaly 2, primary, autosomal recessive, with or without cortical malformations phenotype from the curated OMIM Gene-Disease Associations dataset.

cognitive impairment with or without cerebellar ataxia Gene Set

From OMIM Gene-Disease Associations

genes associated with the cognitive impairment with or without cerebellar ataxia phenotype from the curated OMIM Gene-Disease Associations dataset.

short-rib thoracic dysplasia 6 with or without polydactyly Gene Set

From OMIM Gene-Disease Associations

genes associated with the short-rib thoracic dysplasia 6 with or without polydactyly phenotype from the curated OMIM Gene-Disease Associations dataset.

hypogonadotropic hypogonadism 10 with or without anosmia Gene Set

From OMIM Gene-Disease Associations

genes associated with the hypogonadotropic hypogonadism 10 with or without anosmia phenotype from the curated OMIM Gene-Disease Associations dataset.

hypogonadotropic hypogonadism 3 with or without anosmia Gene Set

From OMIM Gene-Disease Associations

genes associated with the hypogonadotropic hypogonadism 3 with or without anosmia phenotype from the curated OMIM Gene-Disease Associations dataset.

{migraine without aura, susceptibility to} Gene Set

From OMIM Gene-Disease Associations

genes associated with the {migraine without aura, susceptibility to} phenotype from the curated OMIM Gene-Disease Associations dataset.

hypogonadotropic hypogonadism 8 with or without anosmia Gene Set

From OMIM Gene-Disease Associations

genes associated with the hypogonadotropic hypogonadism 8 with or without anosmia phenotype from the curated OMIM Gene-Disease Associations dataset.

hypogonadotropic hypogonadism 5 with or without anosmia Gene Set

From OMIM Gene-Disease Associations

genes associated with the hypogonadotropic hypogonadism 5 with or without anosmia phenotype from the curated OMIM Gene-Disease Associations dataset.

short-rib thoracic dysplasia 7 with or without polydactyly Gene Set

From OMIM Gene-Disease Associations

genes associated with the short-rib thoracic dysplasia 7 with or without polydactyly phenotype from the curated OMIM Gene-Disease Associations dataset.

?microtia with or without hearing impairment (ad) Gene Set

From OMIM Gene-Disease Associations

genes associated with the ?microtia with or without hearing impairment (ad) phenotype from the curated OMIM Gene-Disease Associations dataset.

anemia, x-linked, with/without neutropenia and/or platelet abnormalities Gene Set

From OMIM Gene-Disease Associations

genes associated with the anemia, x-linked, with/without neutropenia and/or platelet abnormalities phenotype from the curated OMIM Gene-Disease Associations dataset.

hypogonadotropic hypogonadism 11 with or without anosmia Gene Set

From OMIM Gene-Disease Associations

genes associated with the hypogonadotropic hypogonadism 11 with or without anosmia phenotype from the curated OMIM Gene-Disease Associations dataset.

muscular dystrophy-dystroglycanopathy (congenital without mental retardation), type b, 4 Gene Set

From OMIM Gene-Disease Associations

genes associated with the muscular dystrophy-dystroglycanopathy (congenital without mental retardation), type b, 4 phenotype from the curated OMIM Gene-Disease Associations dataset.

hypogonadotropic hypogonadism 18 with or without anosmia Gene Set

From OMIM Gene-Disease Associations

genes associated with the hypogonadotropic hypogonadism 18 with or without anosmia phenotype from the curated OMIM Gene-Disease Associations dataset.

{bronchiectasis with or without elevated sweat chloride 1, modifier of} Gene Set

From OMIM Gene-Disease Associations

genes associated with the {bronchiectasis with or without elevated sweat chloride 1, modifier of} 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.

{migraine, with or without aura, susceptibility to, 12} Gene Set

From OMIM Gene-Disease Associations

genes associated with the {migraine, with or without aura, susceptibility to, 12} phenotype from the curated OMIM Gene-Disease Associations dataset.

?inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 2 Gene Set

From OMIM Gene-Disease Associations

genes associated with the ?inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 2 phenotype from the curated OMIM Gene-Disease Associations dataset.

retinitis pigmentosa, x-linked, and sinorespiratory infections, with or without deafness Gene Set

From OMIM Gene-Disease Associations

genes associated with the retinitis pigmentosa, x-linked, and sinorespiratory infections, with or without deafness phenotype from the curated OMIM Gene-Disease Associations dataset.

short-rib thoracic dysplasia 11 with or without polydactyly Gene Set

From OMIM Gene-Disease Associations

genes associated with the short-rib thoracic dysplasia 11 with or without polydactyly phenotype from the curated OMIM Gene-Disease Associations dataset.

dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema Gene Set

From OMIM Gene-Disease Associations

genes associated with the dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema phenotype from the curated OMIM Gene-Disease Associations dataset.

hemolytic anemia, cd59-mediated, with or without immune-mediated polyneuropathy Gene Set

From OMIM Gene-Disease Associations

genes associated with the hemolytic anemia, cd59-mediated, with or without immune-mediated polyneuropathy phenotype from the curated OMIM Gene-Disease Associations dataset.

hypogonadotropic hypogonadism 2 with or without anosmia Gene Set

From OMIM Gene-Disease Associations

genes associated with the hypogonadotropic hypogonadism 2 with or without anosmia phenotype from the curated OMIM Gene-Disease Associations dataset.

bronchiectasis with or without elevated sweat chloride 1 Gene Set

From OMIM Gene-Disease Associations

genes associated with the bronchiectasis with or without elevated sweat chloride 1 phenotype from the curated OMIM Gene-Disease Associations dataset.

bronchiectasis with or without elevated sweat chloride 2 Gene Set

From OMIM Gene-Disease Associations

genes associated with the bronchiectasis with or without elevated sweat chloride 2 phenotype from the curated OMIM Gene-Disease Associations dataset.

bronchiectasis with or without elevated sweat chloride 3 Gene Set

From OMIM Gene-Disease Associations

genes associated with the bronchiectasis with or without elevated sweat chloride 3 phenotype from the curated OMIM Gene-Disease Associations dataset.

foveal hypoplasia 2, with or without optic nerve misrouting and/or anterior segment dysgenesis Gene Set

From OMIM Gene-Disease Associations

genes associated with the foveal hypoplasia 2, with or without optic nerve misrouting and/or anterior segment dysgenesis phenotype from the curated OMIM Gene-Disease Associations dataset.

amyotrophic lateral sclerosis 6, autosomal recessive, with or without frontotemporal dementia Gene Set

From OMIM Gene-Disease Associations

genes associated with the amyotrophic lateral sclerosis 6, autosomal recessive, with or without frontotemporal dementia phenotype from the curated OMIM Gene-Disease Associations dataset.

acrodysostosis 1, with or without hormone resistance Gene Set

From OMIM Gene-Disease Associations

genes associated with the acrodysostosis 1, with or without hormone resistance phenotype from the curated OMIM Gene-Disease Associations dataset.

hypogonadotropic hypogonadism 20 with or without anosmia Gene Set

From OMIM Gene-Disease Associations

genes associated with the hypogonadotropic hypogonadism 20 with or without anosmia phenotype from the curated OMIM Gene-Disease Associations dataset.

?hypogonadotropic hypogonadism 13 with or without anosmia Gene Set

From OMIM Gene-Disease Associations

genes associated with the ?hypogonadotropic hypogonadism 13 with or without anosmia phenotype from the curated OMIM Gene-Disease Associations dataset.

leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism Gene Set

From OMIM Gene-Disease Associations

genes associated with the leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism phenotype from the curated OMIM Gene-Disease Associations dataset.

pulmonary hypertension, familial primary, 1, with or without hht Gene Set

From OMIM Gene-Disease Associations

genes associated with the pulmonary hypertension, familial primary, 1, with or without hht phenotype from the curated OMIM Gene-Disease Associations dataset.

?inclusion body myopathy wtih early-onset paget disease without frontotemporal dementia 3 Gene Set

From OMIM Gene-Disease Associations

genes associated with the ?inclusion body myopathy wtih early-onset paget disease without frontotemporal dementia 3 phenotype from the curated OMIM Gene-Disease Associations dataset.

woolly hair, autosomal recessive 1, with or without hypotrichosis Gene Set

From OMIM Gene-Disease Associations

genes associated with the woolly hair, autosomal recessive 1, with or without hypotrichosis phenotype from the curated OMIM Gene-Disease Associations dataset.

hypogonadotropic hypogonadism 4 with or without anosmia Gene Set

From OMIM Gene-Disease Associations

genes associated with the hypogonadotropic hypogonadism 4 with or without anosmia phenotype from the curated OMIM Gene-Disease Associations dataset.

dementia, frontotemporal, with or without parkinsonism Gene Set

From OMIM Gene-Disease Associations

genes associated with the dementia, frontotemporal, with or without parkinsonism phenotype from the curated OMIM Gene-Disease Associations dataset.

leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism Gene Set

From OMIM Gene-Disease Associations

genes associated with the leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism phenotype from the curated OMIM Gene-Disease Associations dataset.

hypogonadotropic hypogonadism 9 with or without anosmia Gene Set

From OMIM Gene-Disease Associations

genes associated with the hypogonadotropic hypogonadism 9 with or without anosmia phenotype from the curated OMIM Gene-Disease Associations dataset.

short-rib thoracic dysplasia 9 with or without polydactyly Gene Set

From OMIM Gene-Disease Associations

genes associated with the short-rib thoracic dysplasia 9 with or without polydactyly phenotype from the curated OMIM Gene-Disease Associations dataset.

ventricular tachycardia, catecholaminergic polymorphic, 5, with or without muscle weakness Gene Set

From OMIM Gene-Disease Associations

genes associated with the ventricular tachycardia, catecholaminergic polymorphic, 5, with or without muscle weakness phenotype from the curated OMIM Gene-Disease Associations dataset.

{migraine without aura, susceptibility to, 4} Gene Set

From OMIM Gene-Disease Associations

genes associated with the {migraine without aura, susceptibility to, 4} phenotype from the curated OMIM Gene-Disease Associations dataset.

left ventricular noncompaction 1, with or without congenital heart defects Gene Set

From OMIM Gene-Disease Associations

genes associated with the left ventricular noncompaction 1, with or without congenital heart defects phenotype from the curated OMIM Gene-Disease Associations dataset.

tooth agenesis, selective, 1, with or without orofacial cleft Gene Set

From OMIM Gene-Disease Associations

genes associated with the tooth agenesis, selective, 1, with or without orofacial cleft phenotype from the curated OMIM Gene-Disease Associations dataset.

{pulmonary hypertension, chronic thromboembolic, without deep vein thrombosis, susceptibility to} Gene Set

From OMIM Gene-Disease Associations

genes associated with the {pulmonary hypertension, chronic thromboembolic, without deep vein thrombosis, susceptibility to} phenotype from the curated OMIM Gene-Disease Associations dataset.

?hypogonadotropic hypogonadism 12 with or without anosmia Gene Set

From OMIM Gene-Disease Associations

genes associated with the ?hypogonadotropic hypogonadism 12 with or without anosmia phenotype from the curated OMIM Gene-Disease Associations dataset.

polyglucosan body myopathy, early-onset, with or without immunodeficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the polyglucosan body myopathy, early-onset, with or without immunodeficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

hypogonadotropic hypogonadism 6 with or without anosmia Gene Set

From OMIM Gene-Disease Associations

genes associated with the hypogonadotropic hypogonadism 6 with or without anosmia phenotype from the curated OMIM Gene-Disease Associations dataset.

ciliary dyskinesia, primary, 9, with or without situs inversus Gene Set

From OMIM Gene-Disease Associations

genes associated with the ciliary dyskinesia, primary, 9, with or without situs inversus phenotype from the curated OMIM Gene-Disease Associations dataset.

clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly Gene Set

From OMIM Gene-Disease Associations

genes associated with the clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly phenotype from the curated OMIM Gene-Disease Associations dataset.

cataract, pulverulent or cerulean, with or without microcornea Gene Set

From OMIM Gene-Disease Associations

genes associated with the cataract, pulverulent or cerulean, with or without microcornea phenotype from the curated OMIM Gene-Disease Associations dataset.

thrombocytopenia, x-linked, with or without dyserythropoietic anemia Gene Set

From OMIM Gene-Disease Associations

genes associated with the thrombocytopenia, x-linked, with or without dyserythropoietic anemia phenotype from the curated OMIM Gene-Disease Associations dataset.

gastric cancer, familial diffuse, with or without cleft lip and/or palate Gene Set

From OMIM Gene-Disease Associations

genes associated with the gastric cancer, familial diffuse, with or without cleft lip and/or palate phenotype from the curated OMIM Gene-Disease Associations dataset.

short-rib thoracic dysplasia 3 with or without polydactyly Gene Set

From OMIM Gene-Disease Associations

genes associated with the short-rib thoracic dysplasia 3 with or without polydactyly phenotype from the curated OMIM Gene-Disease Associations dataset.

retinitis pigmentosa with or without situs inversus Gene Set

From OMIM Gene-Disease Associations

genes associated with the retinitis pigmentosa with or without situs inversus phenotype from the curated OMIM Gene-Disease Associations dataset.

epilepsy, progressive myoclonic 4, with or without renal failure Gene Set

From OMIM Gene-Disease Associations

genes associated with the epilepsy, progressive myoclonic 4, with or without renal failure phenotype from the curated OMIM Gene-Disease Associations dataset.

ciliary dyskinesia, primary, 7, with or without situs inversus Gene Set

From OMIM Gene-Disease Associations

genes associated with the ciliary dyskinesia, primary, 7, with or without situs inversus phenotype from the curated OMIM Gene-Disease Associations dataset.

gyrate atrophy of choroid and retina with or without ornithinemia Gene Set

From OMIM Gene-Disease Associations

genes associated with the gyrate atrophy of choroid and retina with or without ornithinemia phenotype from the curated OMIM Gene-Disease Associations dataset.

cerebellar ataxia and mental retardation with or without quadrupedal locomotion 3 Gene Set

From OMIM Gene-Disease Associations

genes associated with the cerebellar ataxia and mental retardation with or without quadrupedal locomotion 3 phenotype from the curated OMIM Gene-Disease Associations dataset.

hypogonadotropic hypogonadism 19 with or without anosmia Gene Set

From OMIM Gene-Disease Associations

genes associated with the hypogonadotropic hypogonadism 19 with or without anosmia phenotype from the curated OMIM Gene-Disease Associations dataset.

microcephaly with or without chorioretinopathy, lymphedema, or mental retardation Gene Set

From OMIM Gene-Disease Associations

genes associated with the microcephaly with or without chorioretinopathy, lymphedema, or mental retardation phenotype from the curated OMIM Gene-Disease Associations dataset.

{migraine with or without aura, susceptibility to, 5} Gene Set

From OMIM Gene-Disease Associations

genes associated with the {migraine with or without aura, susceptibility to, 5} phenotype from the curated OMIM Gene-Disease Associations dataset.

mental retardation, with or without nystagmus Gene Set

From OMIM Gene-Disease Associations

genes associated with the mental retardation, with or without nystagmus phenotype from the curated OMIM Gene-Disease Associations dataset.

deafness, neurosensory, without vestibular involvement, autosomal dominant Gene Set

From OMIM Gene-Disease Associations

genes associated with the deafness, neurosensory, without vestibular involvement, autosomal dominant phenotype from the curated OMIM Gene-Disease Associations dataset.

amyotrophic lateral sclerosis 14, with or without frontotemporal dementia Gene Set

From OMIM Gene-Disease Associations

genes associated with the amyotrophic lateral sclerosis 14, with or without frontotemporal dementia phenotype from the curated OMIM Gene-Disease Associations dataset.

adult i phenotype without cataract Gene Set

From OMIM Gene-Disease Associations

genes associated with the adult i phenotype without cataract phenotype from the curated OMIM Gene-Disease Associations dataset.

hypogonadotropic hypogonadism with or without anosmia Gene Set

From OMIM Gene-Disease Associations

genes associated with the hypogonadotropic hypogonadism with or without anosmia phenotype from the curated OMIM Gene-Disease Associations dataset.

leukoencephalopathy, cystic, without megalencephaly Gene Set

From OMIM Gene-Disease Associations

genes associated with the leukoencephalopathy, cystic, without megalencephaly phenotype from the curated OMIM Gene-Disease Associations dataset.

{migraine with or without aura, susceptibility to, 3} Gene Set

From OMIM Gene-Disease Associations

genes associated with the {migraine with or without aura, susceptibility to, 3} phenotype from the curated OMIM Gene-Disease Associations dataset.

short-rib thoracic dysplasia 8 with or without polydactyly Gene Set

From OMIM Gene-Disease Associations

genes associated with the short-rib thoracic dysplasia 8 with or without polydactyly phenotype from the curated OMIM Gene-Disease Associations dataset.

{migraine with or without aura, susceptibility to, 1} Gene Set

From OMIM Gene-Disease Associations

genes associated with the {migraine with or without aura, susceptibility to, 1} phenotype from the curated OMIM Gene-Disease Associations dataset.

ciliary dyskinesia, primary, 1, with or without situs inversus Gene Set

From OMIM Gene-Disease Associations

genes associated with the ciliary dyskinesia, primary, 1, with or without situs inversus phenotype from the curated OMIM Gene-Disease Associations dataset.

{migraine, with or without aura, susceptibility to, 13} Gene Set

From OMIM Gene-Disease Associations

genes associated with the {migraine, with or without aura, susceptibility to, 13} phenotype from the curated OMIM Gene-Disease Associations dataset.

{hypogonadotropic hypogonadism 16 with or without anosmia} Gene Set

From OMIM Gene-Disease Associations

genes associated with the {hypogonadotropic hypogonadism 16 with or without anosmia} phenotype from the curated OMIM Gene-Disease Associations dataset.

atrial septal defect 7, with or without av conduction defects Gene Set

From OMIM Gene-Disease Associations

genes associated with the atrial septal defect 7, with or without av conduction defects phenotype from the curated OMIM Gene-Disease Associations dataset.

androgen insensitivity, partial, with or without breast cancer Gene Set

From OMIM Gene-Disease Associations

genes associated with the androgen insensitivity, partial, with or without breast cancer phenotype from the curated OMIM Gene-Disease Associations dataset.

hypogonadotropic hypogonadism 17 with or without anosmia Gene Set

From OMIM Gene-Disease Associations

genes associated with the hypogonadotropic hypogonadism 17 with or without anosmia phenotype from the curated OMIM Gene-Disease Associations dataset.

epilepsy, focal, with speech disorder and with or without mental retardation Gene Set

From OMIM Gene-Disease Associations

genes associated with the epilepsy, focal, with speech disorder and with or without mental retardation phenotype from the curated OMIM Gene-Disease Associations dataset.

encephalopathy, progressive, with or without lipodystrophy Gene Set

From OMIM Gene-Disease Associations

genes associated with the encephalopathy, progressive, with or without lipodystrophy phenotype from the curated OMIM Gene-Disease Associations dataset.

short-rib thoracic dysplasia 2 with or without polydactyly Gene Set

From OMIM Gene-Disease Associations

genes associated with the short-rib thoracic dysplasia 2 with or without polydactyly phenotype from the curated OMIM Gene-Disease Associations dataset.

woolly hair, autosomal recessive 2 with or without hypotrichosis Gene Set

From OMIM Gene-Disease Associations

genes associated with the woolly hair, autosomal recessive 2 with or without hypotrichosis phenotype from the curated OMIM Gene-Disease Associations dataset.

hypertrichosis terminalis, generalized, with or without gingival hyperplasia Gene Set

From OMIM Gene-Disease Associations

genes associated with the hypertrichosis terminalis, generalized, with or without gingival hyperplasia phenotype from the curated OMIM Gene-Disease Associations dataset.

immunodeficiency 16, with or without neurologic abnormalities Gene Set

From OMIM Gene-Disease Associations

genes associated with the immunodeficiency 16, with or without neurologic abnormalities phenotype from the curated OMIM Gene-Disease Associations dataset.

muscular dystrophy-dystroglycanopathy (congenital with or without mental retardation), type b, 5 Gene Set

From OMIM Gene-Disease Associations

genes associated with the muscular dystrophy-dystroglycanopathy (congenital with or without mental retardation), type b, 5 phenotype from the curated OMIM Gene-Disease Associations dataset.

short-rib thoracic dysplasia 5 with or without polydactyly Gene Set

From OMIM Gene-Disease Associations

genes associated with the short-rib thoracic dysplasia 5 with or without polydactyly phenotype from the curated OMIM Gene-Disease Associations dataset.

migraine with or without aura, susceptibility to Gene Set

From OMIM Gene-Disease Associations

genes associated with the migraine with or without aura, susceptibility to phenotype from the curated OMIM Gene-Disease Associations dataset.

ciliary dyskinesia, primary, 3, with or without situs inversus Gene Set

From OMIM Gene-Disease Associations

genes associated with the ciliary dyskinesia, primary, 3, with or without situs inversus phenotype from the curated OMIM Gene-Disease Associations dataset.

coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or mental retardation Gene Set

From OMIM Gene-Disease Associations

genes associated with the coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or mental retardation phenotype from the curated OMIM Gene-Disease Associations dataset.

acrodysostosis 2, with or without hormone resistance Gene Set

From OMIM Gene-Disease Associations

genes associated with the acrodysostosis 2, with or without hormone resistance phenotype from the curated OMIM Gene-Disease Associations dataset.

hyperproinsulinemia, familial, with or without diabetes Gene Set

From OMIM Gene-Disease Associations

genes associated with the hyperproinsulinemia, familial, with or without diabetes phenotype from the curated OMIM Gene-Disease Associations dataset.

left ventricular noncompaction 3, with or without dilated cardiomyopathy Gene Set

From OMIM Gene-Disease Associations

genes associated with the left ventricular noncompaction 3, with or without dilated cardiomyopathy phenotype from the curated OMIM Gene-Disease Associations dataset.

metaphyseal dysplasia with maxillary hypoplasia with or without brachydactyly Gene Set

From OMIM Gene-Disease Associations

genes associated with the metaphyseal dysplasia with maxillary hypoplasia with or without brachydactyly phenotype from the curated OMIM Gene-Disease Associations dataset.

hypogonadotropic hypogonadism 7 without anosmia Gene Set

From OMIM Gene-Disease Associations

genes associated with the hypogonadotropic hypogonadism 7 without anosmia phenotype from the curated OMIM Gene-Disease Associations dataset.

dystonia, dopa-responsive, with or without hyperphenylalaninemia Gene Set

From OMIM Gene-Disease Associations

genes associated with the dystonia, dopa-responsive, with or without hyperphenylalaninemia phenotype from the curated OMIM Gene-Disease Associations dataset.

sweat chloride elevation without cf Gene Set

From OMIM Gene-Disease Associations

genes associated with the sweat chloride elevation without cf phenotype from the curated OMIM Gene-Disease Associations dataset.

amyotrophic lateral sclerosis 15, with or without frontotemporal dementia Gene Set

From OMIM Gene-Disease Associations

genes associated with the amyotrophic lateral sclerosis 15, with or without frontotemporal dementia phenotype from the curated OMIM Gene-Disease Associations dataset.

?cardiac conduction disease with or without dilated cardiomyopathy Gene Set

From OMIM Gene-Disease Associations

genes associated with the ?cardiac conduction disease with or without dilated cardiomyopathy phenotype from the curated OMIM Gene-Disease Associations dataset.

megalencephalic leukoencephalopathy with subcortical cysts 2b, remitting, with or without mental retardation Gene Set

From OMIM Gene-Disease Associations

genes associated with the megalencephalic leukoencephalopathy with subcortical cysts 2b, remitting, with or without mental retardation phenotype from the curated OMIM Gene-Disease Associations dataset.

amyotrophic lateral sclerosis 10, with or without ftd Gene Set

From OMIM Gene-Disease Associations

genes associated with the amyotrophic lateral sclerosis 10, with or without ftd phenotype from the curated OMIM Gene-Disease Associations dataset.

goiter, multinodular 1, with or without sertoli-leydig cell tumors Gene Set

From OMIM Gene-Disease Associations

genes associated with the goiter, multinodular 1, with or without sertoli-leydig cell tumors 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.

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.

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.

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.

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.

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.

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.

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.

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.

Branchiootic syndrome 3 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Branchiootic syndrome 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Bartter syndrome, type 3, with hypocalciuria Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Bartter syndrome, type 3, with hypocalciuria phenotype from the curated ClinVar Gene-Phenotype Associations 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.

Multiple synostoses syndrome 3 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Multiple synostoses syndrome 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Sjögren-Larsson syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Sjögren-Larsson syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Hennekam lymphangiectasia-lymphedema syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Hennekam lymphangiectasia-lymphedema syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

UV-sensitive syndrome 3 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the UV-sensitive syndrome 3 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.

Short rib-polydactyly syndrome, Majewski type Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Short rib-polydactyly syndrome, Majewski type phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Char syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

Fragile X syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Fragile X syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Shwachman syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

Greig cephalopolysyndactyly syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Greig cephalopolysyndactyly syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Melnick-Fraser syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Melnick-Fraser syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Marfan's syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

Melnick-Needles syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Melnick-Needles syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Branchiootorenal syndrome 2 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Branchiootorenal syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Megalencephaly polymicrogyria-polydactyly hydrocephalus syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Megalencephaly polymicrogyria-polydactyly hydrocephalus syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

PTEN hamartoma tumor syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the PTEN hamartoma tumor syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Lesch-Nyhan syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Lesch-Nyhan syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Oculofaciocardiodental syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

Robinow Sorauf syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Robinow Sorauf syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

17q2131 microdeletion syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the 17q2131 microdeletion syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Desbuquois syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

Macrocephaly/autism syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Macrocephaly/autism syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Nephrotic syndrome, type 9 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Nephrotic syndrome, type 9 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Nephrotic syndrome, type 8 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Nephrotic syndrome, type 8 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Mohr-Tranebjaerg syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Mohr-Tranebjaerg syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Mitochondrial DNA depletion syndrome 9 (encephalomyopathic with methylmalonic aciduria) Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Mitochondrial DNA depletion syndrome 9 (encephalomyopathic with methylmalonic aciduria) phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Osteopenic nonfracture syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Osteopenic nonfracture syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Barakat syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

Raine syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

Digitorenocerebral syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

Bare Lymphocyte Syndrome, Type II, Complementation Group D Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Bare Lymphocyte Syndrome, Type II, Complementation Group D phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Ataxia-telangiectasia syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Ataxia-telangiectasia syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Alport syndrome, autosomal recessive Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Alport syndrome, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Alstrom syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

Hyperinsulinism-hyperammonemia syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Hyperinsulinism-hyperammonemia syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Lynch syndrome II Gene Set

From ClinVar Gene-Phenotype Associations

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

Joubert syndrome 17 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Joubert syndrome 17 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Lethal multiple pterygium syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Lethal multiple pterygium syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

MORM syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

Upshaw-Schulman syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Upshaw-Schulman syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Hereditary cancer-predisposing syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

Usher syndrome, type 1C Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Usher syndrome, type 1C phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Usher syndrome, type 1F Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Usher syndrome, type 1F phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Martsolf syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

Usher syndrome, type 1D Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Usher syndrome, type 1D 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.

Usher syndrome, type 1J Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Usher syndrome, type 1J phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Chromosome 2q32-q33 deletion syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Chromosome 2q32-q33 deletion syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Blepharophimosis-ptosis-intellectual disability syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Blepharophimosis-ptosis-intellectual disability syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Borrone Di Rocco Crovato syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Borrone Di Rocco Crovato syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Hurler syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

Angelman syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

Lig4 syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Lig4 syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Mitochondrial DNA depletion syndrome 4B, MNGIE type Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Mitochondrial DNA depletion syndrome 4B, MNGIE type phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Rubinstein-Taybi syndrome 2 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Rubinstein-Taybi syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Hajdu-Cheney syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Hajdu-Cheney syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Hyperferritinemia cataract syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Hyperferritinemia cataract syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Temtamy preaxial brachydactyly syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Temtamy preaxial brachydactyly syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Mitochondrial DNA depletion syndrome 2 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Mitochondrial DNA depletion syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Hyperimmunoglobulin E syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Hyperimmunoglobulin E syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Bannayan-Riley-Ruvalcaba syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Bannayan-Riley-Ruvalcaba syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Chudley-McCullough syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Chudley-McCullough syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Poretti-boltshauser syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Poretti-boltshauser syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Bosch-boonstra-schaaf optic atrophy syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Bosch-boonstra-schaaf optic atrophy syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Frank Ter Haar syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Frank Ter Haar syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Androgen resistance syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Androgen resistance syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Hypoparathyroidism retardation dysmorphism syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Hypoparathyroidism retardation dysmorphism 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.

Holt-Oram syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Holt-Oram syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Duane syndrome type 2 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Duane syndrome type 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Young Simpson syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Young Simpson syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Frasier syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

C-like syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the C-like syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Meier-Gorlin syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Meier-Gorlin syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Pili torti-deafness syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Pili torti-deafness syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Gorlin syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

Marshall syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

Usher syndrome, type 2C Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Usher syndrome, type 2C phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Usher syndrome, type 2D Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Usher syndrome, type 2D phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Carpenter syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

Bernard-Soulier syndrome, type A2, autosomal dominant Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Bernard-Soulier syndrome, type A2, autosomal dominant phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Duane-radial ray syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Duane-radial ray syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Bardet-Biedl syndrome 19 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Bardet-Biedl syndrome 19 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.

22q133 deletion syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the 22q133 deletion syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Cutis laxa-corneal clouding-oligophrenia syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Cutis laxa-corneal clouding-oligophrenia syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Bardet-Biedl syndrome 14 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Bardet-Biedl syndrome 14 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

TNF receptor-associated periodic fever syndrome (TRAPS) Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the TNF receptor-associated periodic fever syndrome (TRAPS) phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Waardenburg syndrome type 2A Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Waardenburg syndrome type 2A phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Steel syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

Chromosome 1q43-q44 deletion syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Chromosome 1q43-q44 deletion syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Roberts-SC phocomelia syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Roberts-SC phocomelia syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Bloom syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

McLeod neuroacanthocytosis syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the McLeod neuroacanthocytosis syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Cerebrooculofacioskeletal syndrome 4 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Cerebrooculofacioskeletal syndrome 4 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Cerebrooculofacioskeletal syndrome 2 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Cerebrooculofacioskeletal syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Nicolaides-Baraitser syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Nicolaides-Baraitser syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Nager syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

Chédiak-Higashi syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Chédiak-Higashi syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Kindler's syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

Carnevale syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

Kenny syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

Episodic pain syndrome, familial, 2 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Episodic pain syndrome, familial, 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Rienhoff syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

Usher syndrome, type 2A Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Usher syndrome, type 2A 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.

Weaver syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

Lynch syndrome I Gene Set

From ClinVar Gene-Phenotype Associations

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

Ectodermal dysplasia/short stature syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Ectodermal dysplasia/short stature syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Siderius X-linked mental retardation syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Siderius X-linked mental retardation syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Lymphoproliferative syndrome, ebv-associated, autosomal, 1 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Lymphoproliferative syndrome, ebv-associated, autosomal, 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Kohlschutter's syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

X-linked mental retardation with marfanoid habitus syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the X-linked mental retardation with marfanoid habitus syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Cerebro-oculo-facio-skeletal syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Cerebro-oculo-facio-skeletal syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Hypotrichosis-lymphedema-telangiectasia syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Hypotrichosis-lymphedema-telangiectasia syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

LEOPARD syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

Hermansky-Pudlak syndrome 9 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Hermansky-Pudlak syndrome 9 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Hermansky-Pudlak syndrome 4 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Hermansky-Pudlak syndrome 4 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Hermansky-Pudlak syndrome 5 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Hermansky-Pudlak syndrome 5 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Hermansky-Pudlak syndrome 6 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Hermansky-Pudlak syndrome 6 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Hermansky-Pudlak syndrome 7 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Hermansky-Pudlak syndrome 7 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Hermansky-Pudlak syndrome 3 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Hermansky-Pudlak syndrome 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Treacher collins syndrome 1 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Treacher collins syndrome 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Wiskott-Aldrich syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Wiskott-Aldrich syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Episodic pain syndrome, familial, 3 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Episodic pain syndrome, familial, 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Hyper-IgE syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Hyper-IgE syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Tourette Syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Tourette Syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Macrocephaly, macrosomia, facial dysmorphism syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Macrocephaly, macrosomia, facial dysmorphism syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Bartter syndrome antenatal type 2 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Bartter syndrome antenatal type 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Bartter syndrome antenatal type 1 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Bartter syndrome antenatal type 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Gamstorp-Wohlfart syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Gamstorp-Wohlfart syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Turcot syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

Joubert syndrome 3 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Joubert syndrome 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Joubert syndrome 1 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Joubert syndrome 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Joubert syndrome 7 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Joubert syndrome 7 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Long QT syndrome 1 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Long QT syndrome 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Long QT syndrome 2 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Long QT syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Long QT syndrome 3 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Long QT syndrome 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Sick sinus syndrome 2, autosomal dominant Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Sick sinus syndrome 2, autosomal dominant phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Hyaline fibromatosis syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Hyaline fibromatosis 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.

Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Weill-Marchesani-like syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Weill-Marchesani-like syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Netherton syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

Bartter syndrome, type 4b Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Bartter syndrome, type 4b phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Feingold syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Feingold 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.

Waardenburg syndrome type 4B Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Waardenburg syndrome type 4B 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.

Usher syndrome, type 1 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Usher syndrome, type 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Richieri Costa Pereira syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Richieri Costa Pereira syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Autoimmune lymphoproliferative syndrome, type 2 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Autoimmune lymphoproliferative syndrome, type 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Bartter syndrome type 4 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Bartter syndrome type 4 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Bartter syndrome type 3 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Bartter syndrome type 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Myasthenic syndrome, congenital, fast-channel Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Myasthenic syndrome, congenital, fast-channel phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Mitochondrial DNA depletion syndrome 12 (cardiomyopathic type) Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Mitochondrial DNA depletion syndrome 12 (cardiomyopathic type) phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Wilson-Turner X-linked mental retardation syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Wilson-Turner X-linked mental retardation syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Costello syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

Ochoa syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

Bruck syndrome 1 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Bruck syndrome 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Bruck syndrome 2 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Bruck syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Achalasia-alacrima syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Achalasia-alacrima syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Cryptophthalmos syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

Nijmegen breakage syndrome-like disorder Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Nijmegen breakage syndrome-like disorder phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Ehlers-Danlos-like syndrome due to tenascin-X deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Ehlers-Danlos-like syndrome due to tenascin-X deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Brugada syndrome 6 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Brugada syndrome 6 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Brugada syndrome 5 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Brugada syndrome 5 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Brugada syndrome 4 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Brugada syndrome 4 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Brugada syndrome 2 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Brugada syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Brugada syndrome 1 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Brugada syndrome 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Ovarian hyperstimulation syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Ovarian hyperstimulation syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Otofaciocervical syndrome 2 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Otofaciocervical syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Kaufman oculocerebrofacial syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Kaufman oculocerebrofacial syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Stickler syndrome, type 5 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Stickler syndrome, type 5 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Stickler syndrome, type 4 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Stickler syndrome, type 4 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Stickler syndrome, type 2 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Stickler syndrome, type 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Branchiooculofacial syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

Karak syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

Long QT syndrome 12 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Long QT syndrome 12 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Long QT syndrome 13 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Long QT syndrome 13 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Long QT syndrome 10 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Long QT syndrome 10 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Hermansky Pudlak syndrome 2 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Hermansky Pudlak syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Tarsal carpal coalition syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Tarsal carpal coalition syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Jankovic Rivera syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Jankovic Rivera syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Nakajo syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

Chromosome Xq28 deletion syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Chromosome Xq28 deletion syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Fanconi-Bickel syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Fanconi-Bickel syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

short QT syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the short QT syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Smith-Lemli-Opitz syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Smith-Lemli-Opitz syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Von Hippel-Lindau syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

Joubert syndrome 10 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Joubert syndrome 10 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Joubert syndrome 13 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Joubert syndrome 13 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Joubert syndrome 14 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Joubert syndrome 14 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Joubert syndrome 16 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Joubert syndrome 16 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Usher syndrome, type 1B Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Usher syndrome, type 1B phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Usher syndrome, type 1G Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Usher syndrome, type 1G phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Ehlers-Danlos syndrome progeroid type Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Ehlers-Danlos syndrome progeroid type phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Larsen syndrome, dominant type Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Larsen syndrome, dominant type phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Ehlers-Danlos syndrome, musculocontractural type Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Ehlers-Danlos syndrome, musculocontractural type phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Temtamy syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

Birk Barel mental retardation dysmorphism syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Birk Barel mental retardation dysmorphism syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Alport syndrome, X-linked recessive Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Alport syndrome, X-linked recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Hyperphosphatasia with mental retardation syndrome 2 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Hyperphosphatasia with mental retardation syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Hyperphosphatasia with mental retardation syndrome 3 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Hyperphosphatasia with mental retardation syndrome 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Hyperphosphatasia with mental retardation syndrome 1 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Hyperphosphatasia with mental retardation syndrome 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Hyperphosphatasia with mental retardation syndrome 4 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Hyperphosphatasia with mental retardation syndrome 4 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Hyperphosphatasia with mental retardation syndrome 5 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Hyperphosphatasia with mental retardation syndrome 5 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Adenomatous polyposis coli:Gardner syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Adenomatous polyposis coli:Gardner 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.

Lethal congenital contracture syndrome 5 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Lethal congenital contracture syndrome 5 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Ehlers-Danlos syndrome, autosomal recessive, cardiac valvular form Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Ehlers-Danlos syndrome, autosomal recessive, cardiac valvular form phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Leprechaunism syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

Simpson-Golabi-Behmel syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Simpson-Golabi-Behmel syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Robinow syndrome, autosomal recessive, with brachy-syn-polydactyly Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Robinow syndrome, autosomal recessive, with brachy-syn-polydactyly phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

XFE progeroid syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the XFE progeroid syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Meckel syndrome type 2 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Meckel syndrome type 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Meckel syndrome type 3 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Meckel syndrome type 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Meckel syndrome type 1 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Meckel syndrome type 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Meckel syndrome type 4 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Meckel syndrome type 4 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Meckel syndrome type 5 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Meckel syndrome type 5 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Leigh syndrome due to mitochondrial complex I deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Leigh syndrome due to mitochondrial complex I deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Dysequilibrium syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

Atypical hemolytic-uremic syndrome 1 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Atypical hemolytic-uremic syndrome 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Atypical hemolytic-uremic syndrome 3 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Atypical hemolytic-uremic syndrome 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Johanson-Blizzard syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Johanson-Blizzard syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

GRACILE syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

X-linked lymphoproliferative syndrome 1 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the X-linked lymphoproliferative syndrome 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Kowarski syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

ADULT syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

Meckel-Gruber syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Meckel-Gruber syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

X-linked lymphoproliferative syndrome 2 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the X-linked lymphoproliferative syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Neutrophil immunodeficiency syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Neutrophil immunodeficiency syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Coffin-Lowry syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Coffin-Lowry syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Auriculocondylar syndrome 2 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Auriculocondylar syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Auriculocondylar syndrome 3 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Auriculocondylar syndrome 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Auriculocondylar syndrome 1 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Auriculocondylar syndrome 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Ehlers-Danlos syndrome, hydroxylysine-deficient Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Ehlers-Danlos syndrome, hydroxylysine-deficient phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Pierson syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

Pfeiffer syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

Loeys-Dietz syndrome 1 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Loeys-Dietz syndrome 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Tricho-dento-osseous syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Tricho-dento-osseous syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Mowat-Wilson syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Mowat-Wilson syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Nephrotic syndrome, type 10 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Nephrotic syndrome, type 10 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Perrault syndrome 5 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Perrault syndrome 5 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Perrault syndrome 2 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Perrault syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Jensen syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

Werner syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

Aarskog syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

Enamel-renal syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Enamel-renal syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Joubert syndrome 21 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Joubert syndrome 21 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Joubert syndrome 20 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Joubert syndrome 20 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Joubert syndrome 22 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Joubert syndrome 22 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Multiple synostoses syndrome 2 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Multiple synostoses syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Popliteal pterygium syndrome lethal type Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Popliteal pterygium syndrome lethal type phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Keutel syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

Pitt-Hopkins syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Pitt-Hopkins syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Segawa syndrome, autosomal recessive Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Segawa syndrome, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Multiple pterygium syndrome Escobar type Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Multiple pterygium syndrome Escobar type phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Pitt-Hopkins-like syndrome 2 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Pitt-Hopkins-like syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Pitt-Hopkins-like syndrome 1 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Pitt-Hopkins-like syndrome 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Lynch syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

Congenital short bowel syndrome, X-linked Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Congenital short bowel syndrome, X-linked phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

C syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

Klippel-Feil syndrome 2, autosomal recessive Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Klippel-Feil syndrome 2, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Stiff skin syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Stiff skin syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Lenz microphthalmia syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Lenz microphthalmia syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Autosomal recessive hypohidrotic ectodermal dysplasia syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Autosomal recessive hypohidrotic ectodermal dysplasia syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Marshall/Stickler syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Marshall/Stickler syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Schwartz Jampel syndrome type 1 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Schwartz Jampel syndrome type 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Grebe syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

Saethre-Chotzen syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

Myasthenic syndrome, slow-channel congenital Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Myasthenic syndrome, slow-channel congenital phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Floating-Harbor syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Floating-Harbor syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Warburg micro syndrome 1 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Warburg micro syndrome 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Warburg micro syndrome 3 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Warburg micro syndrome 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Warburg micro syndrome 2 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Warburg micro syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE V Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE V phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Hermansky-Pudlak syndrome 1 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Hermansky-Pudlak syndrome 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Osler hemorrhagic telangiectasia syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Osler hemorrhagic telangiectasia syndrome 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.

Wieacker syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

Kabuki make-up syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Kabuki make-up syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Cohen syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

Oligodontia-colorectal cancer syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Oligodontia-colorectal cancer syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Filippi syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

Lethal congenital contractural syndrome 3 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Lethal congenital contractural syndrome 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Primrose syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

Perrault syndrome 4 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Perrault syndrome 4 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Marshall-Smith syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Marshall-Smith syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Loeys-Dietz syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Loeys-Dietz syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Brittle cornea syndrome 2 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Brittle cornea syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Rotor syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

Oral-facial-digital syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Oral-facial-digital syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Acrocallosal syndrome, Schinzel type Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Acrocallosal syndrome, Schinzel type phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Gray platelet syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Gray platelet syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Mast syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

Amish infantile epilepsy syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Amish infantile epilepsy syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Meacham syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

Stormorken syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

Opitz-Frias syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Opitz-Frias syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Cardio-facio-cutaneous syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Cardio-facio-cutaneous syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Mitochondrial DNA depletion syndrome 11 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Mitochondrial DNA depletion syndrome 11 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Kallmann syndrome 1 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Kallmann syndrome 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Kallmann syndrome 2 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Kallmann syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Kallmann syndrome 4 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Kallmann syndrome 4 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Kallmann syndrome 5 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Kallmann syndrome 5 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Kallmann syndrome 6 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Kallmann syndrome 6 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Yunis Varon syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Yunis Varon syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Cowden syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

Mulibrey nanism syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Mulibrey nanism syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Ohdo syndrome, X-linked Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Ohdo syndrome, X-linked phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Nephrotic syndrome, idiopathic, steroid-resistant Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Nephrotic syndrome, idiopathic, steroid-resistant phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Townes-Brocks-branchiootorenal-like syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Townes-Brocks-branchiootorenal-like syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

SeSAME syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

Odontotrichomelic syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

Atrioventricular septal defect, partial, with heterotaxy syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Atrioventricular septal defect, partial, with heterotaxy syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Meckel syndrome, type 6 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Meckel syndrome, type 6 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Infantile liver failure syndrome 1 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Infantile liver failure syndrome 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Infantile liver failure syndrome 2 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Infantile liver failure syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Lowe syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

Ehlers-Danlos syndrome, type 7B Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Ehlers-Danlos syndrome, type 7B phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Ehlers-Danlos syndrome, musculocontractural type 2 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Ehlers-Danlos syndrome, musculocontractural type 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Rett syndrome, congenital variant Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Rett syndrome, congenital variant phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Van Maldergem syndrome 2 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Van Maldergem syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Robinow syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

Bone marrow failure syndrome 2 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Bone marrow failure syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Orofaciodigital syndrome 6 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Orofaciodigital syndrome 6 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Orofaciodigital syndrome 5 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Orofaciodigital syndrome 5 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Distichiasis-lymphedema syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Distichiasis-lymphedema syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Townes syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

Neu-Laxova syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Neu-Laxova syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Winchester syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

Unverricht-Lundborg syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Unverricht-Lundborg syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Verheij syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

Rapp-Hodgkin ectodermal dysplasia syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Rapp-Hodgkin ectodermal dysplasia syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Allan-Herndon-Dudley syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Allan-Herndon-Dudley syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Advanced sleep phase syndrome, familial, 2 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Advanced sleep phase syndrome, familial, 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Sick sinus syndrome 1, autosomal recessive Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Sick sinus syndrome 1, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Arterial tortuosity syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Arterial tortuosity syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Juvenile polyposis syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Juvenile polyposis syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Papillon-Lefèvre syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Papillon-Lefèvre syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Brown-vialetto-van laere syndrome 2 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Brown-vialetto-van laere syndrome 2 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.

Peters plus syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Peters plus syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Ulnar-mammary syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Ulnar-mammary syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Insulin-dependent diabetes mellitus secretory diarrhea syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Insulin-dependent diabetes mellitus secretory diarrhea syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Zunich neuroectodermal syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

Beckwith-Wiedemann syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Beckwith-Wiedemann syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Van Maldergem Wetzburger Verloes syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Van Maldergem Wetzburger Verloes syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Sotos' syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

Dyggve-Melchior-Clausen syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Dyggve-Melchior-Clausen syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Baraitser-Winter Syndrome 2 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Baraitser-Winter Syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Three M syndrome 2 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Three M syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Howel-Evans syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Howel-Evans syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Senior-Loken syndrome 7 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Senior-Loken syndrome 7 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Senior-Loken syndrome 4 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Senior-Loken syndrome 4 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Senior-Loken syndrome 5 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Senior-Loken syndrome 5 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Myasthenic syndrome, congenital, with tubular aggregates 2 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Myasthenic syndrome, congenital, with tubular aggregates 2 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.

Rhabdoid tumor predisposition syndrome 2 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Rhabdoid tumor predisposition syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Finnish congenital nephrotic syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Finnish congenital nephrotic syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Tatton-Brown-rahman syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Tatton-Brown-rahman syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

COACH syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

Short rib polydactyly syndrome 5 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Short rib polydactyly syndrome 5 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Short rib polydactyly syndrome 6 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Short rib polydactyly syndrome 6 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Enhanced s-cone syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Enhanced s-cone syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

X-linked hydrocephalus syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the X-linked hydrocephalus syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Acquired long QT syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Acquired long QT syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Van der Woude syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Van der Woude syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Cornelia de Lange syndrome 1 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Cornelia de Lange syndrome 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Sudden infant death syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Sudden infant death syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Dursun syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

Carpenter syndrome 2 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Carpenter syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Li-Fraumeni syndrome 1 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Li-Fraumeni syndrome 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Haim-Munk syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Haim-Munk syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Knobloch syndrome 1 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Knobloch syndrome 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Carbohydrate-deficient glycoprotein syndrome type I Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Carbohydrate-deficient glycoprotein syndrome type I phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Advanced sleep phase syndrome, familial Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Advanced sleep phase syndrome, familial phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Hypoplastic enamel-onycholysis-hypohidrosis syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Hypoplastic enamel-onycholysis-hypohidrosis syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Bardet-Biedl syndrome 9 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Bardet-Biedl syndrome 9 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Bardet-Biedl syndrome 8 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Bardet-Biedl syndrome 8 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Bardet-Biedl syndrome 5 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Bardet-Biedl syndrome 5 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Bardet-Biedl syndrome 4 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Bardet-Biedl syndrome 4 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Bardet-Biedl syndrome 7 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Bardet-Biedl syndrome 7 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Bardet-Biedl syndrome 6 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Bardet-Biedl syndrome 6 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Bardet-Biedl syndrome 1 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Bardet-Biedl syndrome 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Jarcho-Levin syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Jarcho-Levin syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Bardet-Biedl syndrome 2 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Bardet-Biedl syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Cornelia de Lange syndrome 3 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Cornelia de Lange syndrome 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Cornelia de Lange syndrome 4 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Cornelia de Lange syndrome 4 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Cornelia de Lange syndrome 5 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Cornelia de Lange syndrome 5 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Autosomal recessive Dejerine-Sottas syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Autosomal recessive Dejerine-Sottas syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Kabuki syndrome 2 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Kabuki syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Hay-Wells syndrome of ectodermal dysplasia Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Hay-Wells syndrome of ectodermal dysplasia phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type) Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type) phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Reynolds syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

Glut1 deficiency syndrome 1, autosomal recessive Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Glut1 deficiency syndrome 1, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Joubert syndrome 12/15, digenic Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Joubert syndrome 12/15, digenic phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Serkal syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

Marinesco-Sjögren syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Marinesco-Sjögren syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Seckel syndrome 8 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Seckel syndrome 8 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Seckel syndrome 2 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Seckel syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Seckel syndrome 1 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Seckel syndrome 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Seckel syndrome 7 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Seckel syndrome 7 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Neu-laxova syndrome 2 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Neu-laxova syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Urofacial syndrome 2 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Urofacial syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Gordon's syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

Arts syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

Noonan syndrome 8 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Noonan syndrome 8 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Noonan syndrome 5 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Noonan syndrome 5 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Noonan syndrome 4 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Noonan syndrome 4 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Noonan syndrome 7 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Noonan syndrome 7 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Noonan syndrome 6 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Noonan syndrome 6 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Noonan syndrome 1 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Noonan syndrome 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Noonan syndrome 3 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Noonan syndrome 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

McKusick Kaufman syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the McKusick Kaufman syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Autoimmune polyglandular syndrome type 1, autosomal dominant Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Autoimmune polyglandular syndrome type 1, autosomal dominant phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Rubinstein-Taybi syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Rubinstein-Taybi syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

FG syndrome 2 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the FG syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Loeys-Dietz syndrome, type 2 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Loeys-Dietz syndrome, type 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Stickler syndrome type 1 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Stickler syndrome type 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Polyglandular autoimmune syndrome, type 1 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Polyglandular autoimmune syndrome, type 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Bernard-Soulier syndrome, type A1 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Bernard-Soulier syndrome, type A1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.