Name

Hidrotic ectodermal dysplasia syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Hidrotic ectodermal dysplasia syndrome phenotype from the curated ClinVar Gene-Phenotype 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.

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.

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.

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.

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.

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.

Ectodermal dysplasia skin fragility syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

Ectodermal dysplasia-syndactyly syndrome 1 Gene Set

From ClinVar Gene-Phenotype Associations

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

ECTODERMAL DYSPLASIA-SYNDACTYLY SYNDROME 2 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease ECTODERMAL DYSPLASIA-SYNDACTYLY SYNDROME 2 from the curated CTD Gene-Disease Associations dataset.

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

From CTD Gene-Disease Associations

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

Ectodermal dysplasia/ skin fragility syndrome Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Ectodermal dysplasia/ skin fragility syndrome from the curated CTD Gene-Disease Associations dataset.

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

From CTD Gene-Disease Associations

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

ECTODERMAL DYSPLASIA-SYNDACTYLY SYNDROME 1 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease ECTODERMAL DYSPLASIA-SYNDACTYLY SYNDROME 1 from the curated CTD Gene-Disease Associations dataset.

abnormalities, multiple; ectodermal dysplasia; heart defects, congenital; mental retardation; syndrome Gene Set

From GAD Gene-Disease Associations

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

cleft lip; cleft palate; ectodermal dysplasia; syndrome Gene Set

From GAD Gene-Disease Associations

genes associated with the disease cleft lip; cleft palate; ectodermal dysplasia; syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

ectodermal dysplasia/short stature syndrome Gene Set

From OMIM Gene-Disease Associations

genes associated with the ectodermal dysplasia/short stature syndrome phenotype from the curated OMIM Gene-Disease Associations dataset.

cleft lip/palate-ectodermal dysplasia syndrome Gene Set

From OMIM Gene-Disease Associations

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

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

From OMIM Gene-Disease Associations

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

ectodermal dysplasia-syndactyly syndrome 1 Gene Set

From OMIM Gene-Disease Associations

genes associated with the ectodermal dysplasia-syndactyly syndrome 1 phenotype from the curated OMIM Gene-Disease Associations dataset.

ectodermal dysplasia/skin fragility syndrome Gene Set

From OMIM Gene-Disease Associations

genes associated with the ectodermal dysplasia/skin fragility syndrome phenotype from the curated OMIM Gene-Disease Associations dataset.

ectodermal dysplasia-syndactyly syndrome 2 Gene Set

From OMIM Gene-Disease Associations

genes associated with the ectodermal dysplasia-syndactyly syndrome 2 phenotype from the curated OMIM Gene-Disease Associations dataset.

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

From ClinVar Gene-Phenotype Associations

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

Hypohidrotic X-linked ectodermal dysplasia Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Hypohidrotic X-linked ectodermal dysplasia phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Hypohidrotic ectodermal dysplasia with immune deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Hypohidrotic ectodermal dysplasia with immune deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Anhidrotic ectodermal dysplasia with immune deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Anhidrotic ectodermal dysplasia with immune deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Ectodermal dysplasia, anhidrotic, with T-cell immunodeficiency, autosomal dominant Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Ectodermal dysplasia, anhidrotic, with T-cell immunodeficiency, autosomal dominant phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Corneal intraepithelial dyskeratosis and ectodermal dysplasia Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Corneal intraepithelial dyskeratosis and ectodermal dysplasia phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Ectodermal Dysplasia 3, Anhidrotic Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Ectodermal Dysplasia 3, Anhidrotic from the curated CTD Gene-Disease Associations dataset.

Ectodermal Dysplasia, Anhidrotic, with Immunodeficiency, Osteopetrosis, and Lymphedema Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Ectodermal Dysplasia, Anhidrotic, with Immunodeficiency, Osteopetrosis, and Lymphedema from the curated CTD Gene-Disease Associations dataset.

Ectodermal Dysplasia, Anhidrotic, With T-Cell Immunodeficiency, Autosomal Dominant Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Ectodermal Dysplasia, Anhidrotic, With T-Cell Immunodeficiency, Autosomal Dominant from the curated CTD Gene-Disease Associations dataset.

Ectodermal Dysplasia Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Ectodermal Dysplasia 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.

Ectodermal Dysplasia, Hypohidrotic, Autosomal Recessive Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Ectodermal Dysplasia, Hypohidrotic, Autosomal Recessive from the curated CTD Gene-Disease Associations dataset.

ECTODERMAL DYSPLASIA 4, HAIR/NAIL TYPE Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease ECTODERMAL DYSPLASIA 4, HAIR/NAIL TYPE from the curated CTD Gene-Disease Associations dataset.

Ectodermal dysplasia, ectrodactyly, and macular dystrophy Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Ectodermal dysplasia, ectrodactyly, and macular dystrophy from the curated CTD Gene-Disease Associations dataset.

Ectodermal Dysplasia 1, Anhidrotic Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Ectodermal Dysplasia 1, Anhidrotic from the curated CTD Gene-Disease Associations dataset.

Ectodermal dysplasia, hypohidrotic, with immune deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Ectodermal dysplasia, hypohidrotic, with immune deficiency from the curated CTD Gene-Disease Associations dataset.

hypohidrotic ectodermal dysplasia Gene Set

From DISEASES Curated Gene-Disease Assocation Evidence Scores

genes involed in the disease hypohidrotic ectodermal dysplasia from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.

hypohidrotic ectodermal dysplasia Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

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

ectodermal dysplasia; esophageal neoplasms; neoplasms, squamous cell; oesophageal neoplasm Gene Set

From GAD Gene-Disease Associations

genes associated with the disease ectodermal dysplasia; esophageal neoplasms; neoplasms, squamous cell; oesophageal neoplasm in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

autosomal dominant anhidrotic ectodermal dysplasia and t cell immunodeficiency Gene Set

From GAD Gene-Disease Associations

genes associated with the disease autosomal dominant anhidrotic ectodermal dysplasia and t cell immunodeficiency in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

ectodermal dysplasia Gene Set

From HPO Gene-Disease Associations

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

hypohidrotic ectodermal dysplasia Gene Set

From HPO Gene-Disease Associations

genes associated with the hypohidrotic ectodermal dysplasia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

hair-nail ectodermal dysplasia Gene Set

From HPO Gene-Disease Associations

genes associated with the hair-nail ectodermal dysplasia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Ectodermal Dysplasia Gene Set

From HuGE Navigator Gene-Phenotype Associations

genes associated with the Ectodermal Dysplasia phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset.

?corneal intraepithelial dyskeratosis and ectodermal dysplasia Gene Set

From OMIM Gene-Disease Associations

genes associated with the ?corneal intraepithelial dyskeratosis and ectodermal dysplasia phenotype from the curated OMIM Gene-Disease Associations dataset.

ectodermal, dysplasia, anhidrotic, lymphedema and immunodeficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the ectodermal, dysplasia, anhidrotic, lymphedema and immunodeficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

ectodermal dysplasia 11b, hypohidrotic/hair/tooth type, autosomal recessive Gene Set

From OMIM Gene-Disease Associations

genes associated with the ectodermal dysplasia 11b, hypohidrotic/hair/tooth type, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.

ectodermal dysplasia 6, hair/nail type Gene Set

From OMIM Gene-Disease Associations

genes associated with the ectodermal dysplasia 6, hair/nail type phenotype from the curated OMIM Gene-Disease Associations dataset.

ectodermal dysplasia, ectrodactyly, and macular dystrophy Gene Set

From OMIM Gene-Disease Associations

genes associated with the ectodermal dysplasia, ectrodactyly, and macular dystrophy phenotype from the curated OMIM Gene-Disease Associations dataset.

ectodermal dysplasia 3, witkop type Gene Set

From OMIM Gene-Disease Associations

genes associated with the ectodermal dysplasia 3, witkop type phenotype from the curated OMIM Gene-Disease Associations dataset.

ectodermal dysplasia 7, hair/nail type Gene Set

From OMIM Gene-Disease Associations

genes associated with the ectodermal dysplasia 7, hair/nail type phenotype from the curated OMIM Gene-Disease Associations dataset.

ectodermal dysplasia, anhidrotic, with t-cell immunodeficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the ectodermal dysplasia, anhidrotic, with t-cell immunodeficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

ectodermal dysplasia 5, hair/nail type Gene Set

From OMIM Gene-Disease Associations

genes associated with the ectodermal dysplasia 5, hair/nail type phenotype from the curated OMIM Gene-Disease Associations dataset.

ectodermal dysplasia 1, hypohidrotic, x-linked Gene Set

From OMIM Gene-Disease Associations

genes associated with the ectodermal dysplasia 1, hypohidrotic, x-linked phenotype from the curated OMIM Gene-Disease Associations dataset.

ectodermal dysplasia 4, hair/nail type Gene Set

From OMIM Gene-Disease Associations

genes associated with the ectodermal dysplasia 4, hair/nail type phenotype from the curated OMIM Gene-Disease Associations dataset.

ectodermal dysplasia 11a, hypohidrotic/hair/tooth type, autosomal dominant Gene Set

From OMIM Gene-Disease Associations

genes associated with the ectodermal dysplasia 11a, hypohidrotic/hair/tooth type, autosomal dominant phenotype from the curated OMIM Gene-Disease Associations dataset.

ectodermal dysplasia 10b, hypohidrotic/hair/tooth type, autosomal recessive Gene Set

From OMIM Gene-Disease Associations

genes associated with the ectodermal dysplasia 10b, hypohidrotic/hair/tooth type, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.

ectodermal dysplasia 9, hair/nail type Gene Set

From OMIM Gene-Disease Associations

genes associated with the ectodermal dysplasia 9, hair/nail type phenotype from the curated OMIM Gene-Disease Associations dataset.

ectodermal dysplasia 8, hair/tooth/nail type Gene Set

From OMIM Gene-Disease Associations

genes associated with the ectodermal dysplasia 8, hair/tooth/nail type phenotype from the curated OMIM Gene-Disease Associations dataset.

ectodermal dysplasia, hypohidrotic, with immune deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the ectodermal dysplasia, hypohidrotic, with immune deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

ectodermal dysplasia 10a, hypohidrotic/hair/nail type, autosomal dominant Gene Set

From OMIM Gene-Disease Associations

genes associated with the ectodermal dysplasia 10a, hypohidrotic/hair/nail type, autosomal dominant phenotype from the curated OMIM Gene-Disease Associations dataset.

ectodermal dysplasia 2, clouston type Gene Set

From OMIM Gene-Disease Associations

genes associated with the ectodermal dysplasia 2, clouston type phenotype from the curated OMIM Gene-Disease Associations dataset.

Renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia and skeletal dysplasia Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia and skeletal dysplasia phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

carcinoma, squamous cell; cervical dysplasia; cervical intraepithelial neoplasia; cervical neoplasm; papillomavirus infections; squamous cell carcinoma; tumor virus infections; uterine cervical dysplasia; uterine cervical neoplasms Gene Set

From GAD Gene-Disease Associations

genes associated with the disease carcinoma, squamous cell; cervical dysplasia; cervical intraepithelial neoplasia; cervical neoplasm; papillomavirus infections; squamous cell carcinoma; tumor virus infections; uterine cervical dysplasia; uterine cervical neoplasms 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.

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.

ectodermal Gene Set

From GeneRIF Biological Term Annotations

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

APECED - Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy_Thymic epithelial cell_GSE85 Gene Set

From GEO Signatures of Differentially Expressed Genes for Diseases

genes differentially expressed during APECED - Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy_Thymic epithelial cell_GSE85 disease perturbation from the GEO Signatures of Differentially Expressed Genes for Diseases dataset.

embryonic ectodermal digestive tract development Gene Set

From GO Biological Process Annotations

genes participating in the embryonic ectodermal digestive tract development biological process from the curated GO Biological Process Annotations dataset.

ectodermal placode formation Gene Set

From GO Biological Process Annotations

genes participating in the ectodermal placode formation biological process from the curated GO Biological Process Annotations dataset.

ectodermal cell differentiation Gene Set

From GO Biological Process Annotations

genes participating in the ectodermal cell differentiation biological process from the curated GO Biological Process Annotations dataset.

regulation of ectodermal cell fate specification Gene Set

From GO Biological Process Annotations

genes participating in the regulation of ectodermal cell fate specification biological process from the curated GO Biological Process Annotations dataset.

embryonic ectodermal digestive tract morphogenesis Gene Set

From GO Biological Process Annotations

genes participating in the embryonic ectodermal digestive tract morphogenesis biological process from the curated GO Biological Process Annotations dataset.

negative regulation of ectodermal cell fate specification Gene Set

From GO Biological Process Annotations

genes participating in the negative regulation of ectodermal cell fate specification biological process from the curated GO Biological Process Annotations dataset.

abnormal ventral ectodermal ridge morphology Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the abnormal ventral ectodermal ridge morphology phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

thick apical ectodermal ridge Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the thick apical ectodermal ridge phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

absent apical ectodermal ridge Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the absent apical ectodermal ridge phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

thin apical ectodermal ridge Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the thin apical ectodermal ridge phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

decreased ventral ectodermal ridge size Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the decreased ventral ectodermal ridge size phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

abnormal apical ectodermal ridge morphology Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the abnormal apical ectodermal ridge morphology phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Bent bone dysplasia syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Bent bone dysplasia syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Autoimmune polyglandular syndrome type 1, with reversible metaphyseal dysplasia Gene Set

From ClinVar Gene-Phenotype Associations

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

Cortical dysplasia-focal epilepsy syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Cortical dysplasia-focal epilepsy syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Cortical Dysplasia-Focal Epilepsy Syndrome Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Cortical Dysplasia-Focal Epilepsy Syndrome from the curated CTD Gene-Disease Associations dataset.

bronchopulmonary dysplasia; respiratory distress syndrome, neonatal Gene Set

From GAD Gene-Disease Associations

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

bronchopulmonary dysplasia; respiratory distress syndrome, newborn Gene Set

From GAD Gene-Disease Associations

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

bone neoplasms; fibrous dysplasia, polyostotic; ossification, heterotopic; osteoma; pseudohypoparathyroidism; skin neoplasms; syndrome Gene Set

From GAD Gene-Disease Associations

genes associated with the disease bone neoplasms; fibrous dysplasia, polyostotic; ossification, heterotopic; osteoma; pseudohypoparathyroidism; skin neoplasms; syndrome in GWAS and other genetic association datasets from the GAD 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.

cortical dysplasia-focal epilepsy syndrome Gene Set

From OMIM Gene-Disease Associations

genes associated with the cortical dysplasia-focal epilepsy syndrome phenotype from the curated OMIM Gene-Disease Associations dataset.

otodental dysplasia chromsome deletion syndrome Gene Set

From OMIM Gene-Disease Associations

genes associated with the otodental dysplasia chromsome deletion syndrome phenotype from the curated OMIM Gene-Disease Associations dataset.

bent bone dysplasia syndrome Gene Set

From OMIM Gene-Disease Associations

genes associated with the bent bone dysplasia syndrome phenotype from the curated OMIM Gene-Disease Associations dataset.

Lynch syndrome:Lynch syndrome:Lynch syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

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

From GAD Gene-Disease Associations

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

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

From GAD Gene-Disease Associations

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

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

From GAD Gene-Disease Associations

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

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

From GAD Gene-Disease Associations

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

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

From GAD Gene-Disease Associations

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

Frontometaphyseal dysplasia Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Frontometaphyseal dysplasia phenotype from the curated ClinVar Gene-Phenotype 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.

Czech dysplasia metatarsal type Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Czech dysplasia metatarsal type phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Epiphyseal dysplasia, multiple, 3, with myopathy Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Epiphyseal dysplasia, multiple, 3, with myopathy phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Spondyloperipheral dysplasia Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Spondyloperipheral dysplasia phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Wolcott-Rallison dysplasia Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Wolcott-Rallison dysplasia phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Craniodiaphyseal dysplasia, autosomal dominant Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Craniodiaphyseal dysplasia, autosomal dominant phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Progressive pseudorheumatoid dysplasia Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Progressive pseudorheumatoid dysplasia phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Osteoglophonic dysplasia Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Osteoglophonic dysplasia phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Gracile bone dysplasia Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Gracile bone dysplasia phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Frontonasal dysplasia Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Frontonasal dysplasia phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Spondylometaphyseal dysplasia, Kozlowski type Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Spondylometaphyseal dysplasia, Kozlowski type phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Odontoonychodermal dysplasia Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Odontoonychodermal dysplasia phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Spondyloepimetaphyseal dysplasia with multiple dislocations Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Spondyloepimetaphyseal dysplasia with multiple dislocations phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Renal-hepatic-pancreatic dysplasia 2 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Renal-hepatic-pancreatic dysplasia 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Acampomelic campomelic dysplasia Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Acampomelic campomelic dysplasia phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Spondyloepimetaphyseal dysplasia, Missouri type Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Spondyloepimetaphyseal dysplasia, Missouri type phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Arrhythmogenic right ventricular dysplasia, familial, 13 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Arrhythmogenic right ventricular dysplasia, familial, 13 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Craniofrontonasal dysplasia Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Craniofrontonasal dysplasia phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Spondyloepiphyseal dysplasia, kimberley type Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Spondyloepiphyseal dysplasia, kimberley type phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

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

From ClinVar Gene-Phenotype Associations

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

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.

Cardiac valvular dysplasia, X-linked Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Cardiac valvular dysplasia, X-linked phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Trichorhinophalangeal dysplasia type I Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Trichorhinophalangeal dysplasia type I phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Diastrophic dysplasia Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Diastrophic dysplasia phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Thanatophoric dysplasia type 1 Gene Set

From ClinVar Gene-Phenotype Associations

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

Diaphyseal dysplasia Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Diaphyseal dysplasia phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Cleidocranial dysplasia, forme fruste, with brachydactyly Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Cleidocranial dysplasia, forme fruste, with brachydactyly phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Craniometaphyseal dysplasia, autosomal dominant Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Craniometaphyseal dysplasia, autosomal dominant phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Schneckenbecken dysplasia Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Schneckenbecken dysplasia phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Acromicric dysplasia Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Acromicric dysplasia phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Terminal osseous dysplasia Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Terminal osseous dysplasia phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Vitreoretinopathy with phalangeal epiphyseal dysplasia Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Vitreoretinopathy with phalangeal epiphyseal dysplasia phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Acromesomelic dysplasia Maroteaux type Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Acromesomelic dysplasia Maroteaux type phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Renal dysplasia Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Renal dysplasia phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Schimke immunoosseous dysplasia Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Schimke immunoosseous dysplasia phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Acrocapitofemoral dysplasia Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Acrocapitofemoral dysplasia phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Oculodentodigital dysplasia, autosomal recessive Gene Set

From ClinVar Gene-Phenotype Associations

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

Spondyloepiphyseal dysplasia with congenital joint dislocations Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Spondyloepiphyseal dysplasia with congenital joint dislocations 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.

Greenberg dysplasia Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Greenberg dysplasia phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Boomerang dysplasia Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Boomerang dysplasia phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Craniolenticulosutural dysplasia Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Craniolenticulosutural dysplasia phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Oculodentodigital dysplasia Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Oculodentodigital dysplasia phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Desbuquois dysplasia 2 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Desbuquois dysplasia 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Cortical dysplasia, complex, with other brain malformations 2 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Cortical dysplasia, complex, with other brain malformations 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Cortical dysplasia, complex, with other brain malformations 3 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Cortical dysplasia, complex, with other brain malformations 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Cortical dysplasia, complex, with other brain malformations 6 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Cortical dysplasia, complex, with other brain malformations 6 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Cortical dysplasia, complex, with other brain malformations 4 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Cortical dysplasia, complex, with other brain malformations 4 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Cortical dysplasia, complex, with other brain malformations 5 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Cortical dysplasia, complex, with other brain malformations 5 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Spondylometaphyseal dysplasia with cone-rod dystrophy Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Spondylometaphyseal dysplasia with cone-rod dystrophy phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Chondroectodermal dysplasia Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Chondroectodermal dysplasia phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Ischiopatellar dysplasia Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Ischiopatellar dysplasia phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Geleophysic dysplasia Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Geleophysic dysplasia phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Geleophysic dysplasia 2 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Geleophysic dysplasia 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Spondyloepimetaphyseal dysplasia, Aggrecan type Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Spondyloepimetaphyseal dysplasia, Aggrecan type phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Alveolar capillary dysplasia with misalignment of pulmonary veins Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Alveolar capillary dysplasia with misalignment of pulmonary veins phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Brachyrachia (short spine dysplasia) Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Brachyrachia (short spine dysplasia) phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Spondyloepimetaphyseal dysplasia Strudwick type Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Spondyloepimetaphyseal dysplasia Strudwick type 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.

Septo-optic dysplasia sequence Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Septo-optic dysplasia sequence phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Spondyloepiphyseal dysplasia Maroteaux type Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Spondyloepiphyseal dysplasia Maroteaux type phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Spondylo-megaepiphyseal-metaphyseal dysplasia Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Spondylo-megaepiphyseal-metaphyseal dysplasia phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Cranioectodermal dysplasia 4 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Cranioectodermal dysplasia 4 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Cranioectodermal dysplasia 2 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Cranioectodermal dysplasia 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Cranioectodermal dysplasia 3 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Cranioectodermal dysplasia 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Epiphyseal dysplasia, multiple, with myopia and conductive deafness Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Epiphyseal dysplasia, multiple, with myopia and conductive deafness phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Cranioectodermal dysplasia 1 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Cranioectodermal dysplasia 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Fibrous dysplasia of jaw Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Fibrous dysplasia of jaw phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Smith McCort dysplasia Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Smith McCort dysplasia phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Spondyloepiphyseal dysplasia congenita Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Spondyloepiphyseal dysplasia congenita phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Multiple epiphyseal dysplasia 6 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Multiple epiphyseal dysplasia 6 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Multiple epiphyseal dysplasia 5 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Multiple epiphyseal dysplasia 5 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Multiple epiphyseal dysplasia 1 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Multiple epiphyseal dysplasia 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Spondyloepimetaphyseal dysplasia, pakistani type Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Spondyloepimetaphyseal dysplasia, pakistani type phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Kniest dysplasia Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Kniest dysplasia phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Otospondylomegaepiphyseal dysplasia Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Otospondylomegaepiphyseal dysplasia phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Spondylometaepiphyseal dysplasia short limb-hand type Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Spondylometaepiphyseal dysplasia short limb-hand type phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Metatrophic dysplasia Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Metatrophic dysplasia phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Frontonasal dysplasia 2 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Frontonasal dysplasia 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Frontonasal dysplasia 3 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Frontonasal dysplasia 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Dyssegmental dysplasia Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Dyssegmental dysplasia from the curated CTD Gene-Disease Associations dataset.

Frontometaphyseal dysplasia Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Frontometaphyseal dysplasia from the curated CTD Gene-Disease Associations dataset.

DEVELOPMENTAL DYSPLASIA OF THE HIP 1 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease DEVELOPMENTAL DYSPLASIA OF THE HIP 1 from the curated CTD Gene-Disease Associations dataset.

GNATHODIAPHYSEAL DYSPLASIA Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease GNATHODIAPHYSEAL DYSPLASIA from the curated CTD Gene-Disease Associations dataset.

Acrocapitofemoral Dysplasia Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Acrocapitofemoral Dysplasia from the curated CTD Gene-Disease Associations dataset.

Thanatophoric dysplasia, type 2 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Thanatophoric dysplasia, type 2 from the curated CTD Gene-Disease Associations dataset.

Cardiac valvular dysplasia, X-linked Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Cardiac valvular dysplasia, X-linked from the curated CTD Gene-Disease Associations dataset.

GREENBERG DYSPLASIA Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease GREENBERG DYSPLASIA from the curated CTD Gene-Disease Associations dataset.

Craniolenticulosutural Dysplasia Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Craniolenticulosutural Dysplasia from the curated CTD Gene-Disease Associations dataset.

Mandibuloacral dysplasia with type B lipodystrophy Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Mandibuloacral dysplasia with type B lipodystrophy from the curated CTD Gene-Disease Associations dataset.

CRANIOECTODERMAL DYSPLASIA 2 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease CRANIOECTODERMAL DYSPLASIA 2 from the curated CTD Gene-Disease Associations dataset.

Focal cortical dysplasia of Taylor Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Focal cortical dysplasia of Taylor from the curated CTD Gene-Disease Associations dataset.

Multicystic renal dysplasia, bilateral Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Multicystic renal dysplasia, bilateral from the curated CTD Gene-Disease Associations dataset.

Epiphyseal Dysplasia, Multiple, with Myopia and Conductive Deafness Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Epiphyseal Dysplasia, Multiple, with Myopia and Conductive Deafness from the curated CTD Gene-Disease Associations dataset.

Cranioectodermal Dysplasia Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Cranioectodermal Dysplasia from the curated CTD Gene-Disease Associations dataset.

TERMINAL OSSEOUS DYSPLASIA Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease TERMINAL OSSEOUS DYSPLASIA from the curated CTD Gene-Disease Associations dataset.

Thanatophoric Dysplasia, Type I Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Thanatophoric Dysplasia, Type I from the curated CTD Gene-Disease Associations dataset.

Acromicric dysplasia Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Acromicric dysplasia from the curated CTD Gene-Disease Associations dataset.

Langer mesomelic dysplasia Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Langer mesomelic dysplasia from the curated CTD Gene-Disease Associations dataset.

Cleidocranial Dysplasia Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Cleidocranial Dysplasia from the curated CTD Gene-Disease Associations dataset.

FRONTONASAL DYSPLASIA 1 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease FRONTONASAL DYSPLASIA 1 from the curated CTD Gene-Disease Associations dataset.

FRONTONASAL DYSPLASIA 2 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease FRONTONASAL DYSPLASIA 2 from the curated CTD Gene-Disease Associations dataset.

Bronchopulmonary Dysplasia Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Bronchopulmonary Dysplasia from the curated CTD Gene-Disease Associations dataset.

Spondylo-Megaepiphyseal-Metaphyseal Dysplasia Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Spondylo-Megaepiphyseal-Metaphyseal Dysplasia from the curated CTD Gene-Disease Associations dataset.

Spondyloepiphyseal Dysplasia Tarda, X-Linked Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Spondyloepiphyseal Dysplasia Tarda, X-Linked from the curated CTD Gene-Disease Associations dataset.

Polyostotic osteolytic dysplasia, hereditary expansile Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Polyostotic osteolytic dysplasia, hereditary expansile from the curated CTD Gene-Disease Associations dataset.

FRONTONASAL DYSPLASIA 3 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease FRONTONASAL DYSPLASIA 3 from the curated CTD Gene-Disease Associations dataset.

Schimke immunoosseous dysplasia Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Schimke immunoosseous dysplasia from the curated CTD Gene-Disease Associations dataset.

ACROMESOMELIC DYSPLASIA, HUNTER-THOMPSON TYPE Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease ACROMESOMELIC DYSPLASIA, HUNTER-THOMPSON TYPE from the curated CTD Gene-Disease Associations dataset.

Craniofrontonasal dysplasia Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Craniofrontonasal dysplasia from the curated CTD Gene-Disease Associations dataset.

Oculodentodigital Dysplasia Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Oculodentodigital Dysplasia from the curated CTD Gene-Disease Associations dataset.

Anal sphincter dysplasia Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Anal sphincter dysplasia from the curated CTD Gene-Disease Associations dataset.

Platyspondylic Lethal Skeletal Dysplasia, Torrance Type Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Platyspondylic Lethal Skeletal Dysplasia, Torrance Type from the curated CTD Gene-Disease Associations dataset.

Anauxetic dysplasia Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Anauxetic dysplasia from the curated CTD Gene-Disease Associations dataset.

Mental Retardation, Skeletal Dysplasia, and Abducens Palsy Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Mental Retardation, Skeletal Dysplasia, and Abducens Palsy from the curated CTD Gene-Disease Associations dataset.

Hypopituitarism and septooptic 'dysplasia' Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Hypopituitarism and septooptic 'dysplasia' from the curated CTD Gene-Disease Associations dataset.

Odontoonychodermal dysplasia Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Odontoonychodermal dysplasia from the curated CTD Gene-Disease Associations dataset.

Spondylometaphyseal dysplasia, Kozlowski type Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Spondylometaphyseal dysplasia, Kozlowski type from the curated CTD Gene-Disease Associations dataset.

SPONDYLOPERIPHERAL DYSPLASIA Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease SPONDYLOPERIPHERAL DYSPLASIA from the curated CTD Gene-Disease Associations dataset.

RENAL-HEPATIC-PANCREATIC DYSPLASIA 1 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease RENAL-HEPATIC-PANCREATIC DYSPLASIA 1 from the curated CTD Gene-Disease Associations dataset.

Spondyloepiphyseal Dysplasia, Kimberley Type Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Spondyloepiphyseal Dysplasia, Kimberley Type from the curated CTD Gene-Disease Associations dataset.

Craniometaphyseal Dysplasia, Autosomal Dominant Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Craniometaphyseal Dysplasia, Autosomal Dominant from the curated CTD Gene-Disease Associations dataset.

Schneckenbecken dysplasia Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Schneckenbecken dysplasia from the curated CTD Gene-Disease Associations dataset.

Thanatophoric Dysplasia Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Thanatophoric Dysplasia from the curated CTD Gene-Disease Associations dataset.

Ghosal Hematodiaphyseal Dysplasia Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Ghosal Hematodiaphyseal Dysplasia from the curated CTD Gene-Disease Associations dataset.

Smith-McCort Dysplasia Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Smith-McCort Dysplasia from the curated CTD Gene-Disease Associations dataset.

Diastrophic dysplasia Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Diastrophic dysplasia from the curated CTD Gene-Disease Associations dataset.

Arrhythmogenic Right Ventricular Dysplasia, Familial, 5 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Arrhythmogenic Right Ventricular Dysplasia, Familial, 5 from the curated CTD Gene-Disease Associations dataset.

Arrhythmogenic Right Ventricular Dysplasia, Familial, 6 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Arrhythmogenic Right Ventricular Dysplasia, Familial, 6 from the curated CTD Gene-Disease Associations dataset.

Arrhythmogenic Right Ventricular Dysplasia, Familial, 2 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Arrhythmogenic Right Ventricular Dysplasia, Familial, 2 from the curated CTD Gene-Disease Associations dataset.

Fibrous Dysplasia, Polyostotic Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Fibrous Dysplasia, Polyostotic from the curated CTD Gene-Disease Associations dataset.

RETINAL DYSPLASIA, PRIMARY Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease RETINAL DYSPLASIA, PRIMARY from the curated CTD Gene-Disease Associations dataset.

SPONDYLOEPIPHYSEAL DYSPLASIA, MAROTEAUX TYPE Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease SPONDYLOEPIPHYSEAL DYSPLASIA, MAROTEAUX TYPE from the curated CTD Gene-Disease Associations dataset.

Fibrous Dysplasia of Bone Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Fibrous Dysplasia of Bone 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.

OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA from the curated CTD Gene-Disease Associations dataset.

Boomerang dysplasia Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Boomerang dysplasia from the curated CTD Gene-Disease Associations dataset.

Pelviscapular dysplasia Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Pelviscapular dysplasia from the curated CTD Gene-Disease Associations dataset.

Arrhythmogenic Right Ventricular Dysplasia, Familial, 11 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Arrhythmogenic Right Ventricular Dysplasia, Familial, 11 from the curated CTD Gene-Disease Associations dataset.

Arrhythmogenic Right Ventricular Dysplasia, Familial, 10 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Arrhythmogenic Right Ventricular Dysplasia, Familial, 10 from the curated CTD Gene-Disease Associations dataset.

Arrhythmogenic Right Ventricular Dysplasia, Familial, 12 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Arrhythmogenic Right Ventricular Dysplasia, Familial, 12 from the curated CTD Gene-Disease Associations dataset.

GELEOPHYSIC DYSPLASIA 1 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease GELEOPHYSIC DYSPLASIA 1 from the curated CTD Gene-Disease Associations dataset.

Torticollis keloids cryptorchidism renal dysplasia Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Torticollis keloids cryptorchidism renal dysplasia from the curated CTD Gene-Disease Associations dataset.

Campomelic Dysplasia Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Campomelic Dysplasia from the curated CTD Gene-Disease Associations dataset.

Alveolar capillary dysplasia Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Alveolar capillary dysplasia from the curated CTD Gene-Disease Associations dataset.

Ischiopatellar dysplasia Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Ischiopatellar dysplasia from the curated CTD Gene-Disease Associations dataset.

Arrhythmogenic Right Ventricular Dysplasia, Familial, 9 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Arrhythmogenic Right Ventricular Dysplasia, Familial, 9 from the curated CTD Gene-Disease Associations dataset.

Arrhythmogenic Right Ventricular Dysplasia, Familial, 8 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Arrhythmogenic Right Ventricular Dysplasia, Familial, 8 from the curated CTD Gene-Disease Associations dataset.

Arrhythmogenic Right Ventricular Dysplasia, Familial, 1 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Arrhythmogenic Right Ventricular Dysplasia, Familial, 1 from the curated CTD Gene-Disease Associations dataset.

Arrhythmogenic Right Ventricular Dysplasia, Familial, 3 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Arrhythmogenic Right Ventricular Dysplasia, Familial, 3 from the curated CTD Gene-Disease Associations dataset.

Renal hepatic pancreatic dysplasia Dandy Walker cyst Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Renal hepatic pancreatic dysplasia Dandy Walker cyst from the curated CTD Gene-Disease Associations dataset.

Nail dysplasia, isolated congenital Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Nail dysplasia, isolated congenital from the curated CTD Gene-Disease Associations dataset.

DENTIN DYSPLASIA, TYPE II Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease DENTIN DYSPLASIA, TYPE II from the curated CTD Gene-Disease Associations dataset.

Spondyloepimetaphyseal Dysplasia, Matrilin-3 Related Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Spondyloepimetaphyseal Dysplasia, Matrilin-3 Related from the curated CTD Gene-Disease Associations dataset.

Arrhythmogenic Right Ventricular Dysplasia, Familial, 4 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Arrhythmogenic Right Ventricular Dysplasia, Familial, 4 from the curated CTD Gene-Disease Associations dataset.

Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type from the curated CTD Gene-Disease Associations dataset.

Macrocephaly with Multiple Epiphyseal Dysplasia and Distinctive Facies Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Macrocephaly with Multiple Epiphyseal Dysplasia and Distinctive Facies from the curated CTD Gene-Disease Associations dataset.

Mandibuloacral dysplasia with type A lipodystrophy Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Mandibuloacral dysplasia with type A lipodystrophy from the curated CTD Gene-Disease Associations dataset.

Oculodentodigital Dysplasia, Autosomal Recessive Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Oculodentodigital Dysplasia, Autosomal Recessive from the curated CTD Gene-Disease Associations dataset.

Spondyloepimetaphyseal Dysplasia, Missouri Type Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Spondyloepimetaphyseal Dysplasia, Missouri Type from the curated CTD Gene-Disease Associations dataset.

SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS from the curated CTD Gene-Disease Associations dataset.

Acromesomelic dysplasia, Maroteaux type Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Acromesomelic dysplasia, Maroteaux type from the curated CTD Gene-Disease Associations dataset.

ACROPECTOROVERTEBRAL DYSPLASIA Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease ACROPECTOROVERTEBRAL DYSPLASIA from the curated CTD Gene-Disease Associations dataset.

Spondyloepiphyseal dysplasia, congenita Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Spondyloepiphyseal dysplasia, congenita from the curated CTD Gene-Disease Associations dataset.

Spondyloepimetaphyseal Dysplasia, Pakistani Type Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Spondyloepimetaphyseal Dysplasia, Pakistani Type from the curated CTD Gene-Disease Associations dataset.

Spondyloepimetaphyseal Dysplasia, Aggrecan Type Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Spondyloepimetaphyseal Dysplasia, Aggrecan Type from the curated CTD Gene-Disease Associations dataset.

Parietal Foramina With Cleidocranial Dysplasia Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Parietal Foramina With Cleidocranial Dysplasia from the curated CTD Gene-Disease Associations dataset.

Eiken Skeletal Dysplasia Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Eiken Skeletal Dysplasia from the curated CTD Gene-Disease Associations dataset.

Kniest dysplasia Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Kniest dysplasia 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.

Frontonasal dysplasia Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Frontonasal dysplasia from the curated CTD Gene-Disease Associations dataset.

Epiphyseal dysplasia, multiple, 1 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Epiphyseal dysplasia, multiple, 1 from the curated CTD Gene-Disease Associations dataset.

Epiphyseal dysplasia, multiple, 3 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Epiphyseal dysplasia, multiple, 3 from the curated CTD Gene-Disease Associations dataset.

Epiphyseal dysplasia, multiple, 2 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Epiphyseal dysplasia, multiple, 2 from the curated CTD Gene-Disease Associations dataset.

Epiphyseal dysplasia, multiple, 5 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Epiphyseal dysplasia, multiple, 5 from the curated CTD Gene-Disease Associations dataset.

Epiphyseal dysplasia, multiple, 4 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Epiphyseal dysplasia, multiple, 4 from the curated CTD Gene-Disease Associations dataset.

Hip Dysplasia, Beukes Type Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Hip Dysplasia, Beukes Type from the curated CTD Gene-Disease Associations dataset.

craniometaphyseal dysplasia Gene Set

From DISEASES Curated Gene-Disease Assocation Evidence Scores

genes involed in the disease craniometaphyseal dysplasia from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.

spondyloepimetaphyseal dysplasia Gene Set

From DISEASES Curated Gene-Disease Assocation Evidence Scores

genes involed in the disease spondyloepimetaphyseal dysplasia from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.

thanatophoric dysplasia Gene Set

From DISEASES Curated Gene-Disease Assocation Evidence Scores

genes involed in the disease thanatophoric dysplasia from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.

campomelic dysplasia Gene Set

From DISEASES Curated Gene-Disease Assocation Evidence Scores

genes involed in the disease campomelic dysplasia from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.

otospondylomegaepiphyseal dysplasia Gene Set

From DISEASES Curated Gene-Disease Assocation Evidence Scores

genes involed in the disease otospondylomegaepiphyseal dysplasia from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.

kniest dysplasia Gene Set

From DISEASES Curated Gene-Disease Assocation Evidence Scores

genes involed in the disease kniest dysplasia from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.

sost-related sclerosing bone dysplasia Gene Set

From DISEASES Curated Gene-Disease Assocation Evidence Scores

genes involed in the disease sost-related sclerosing bone dysplasia from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.

boomerang dysplasia Gene Set

From DISEASES Curated Gene-Disease Assocation Evidence Scores

genes involed in the disease boomerang dysplasia from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.

cleidocranial dysplasia Gene Set

From DISEASES Curated Gene-Disease Assocation Evidence Scores

genes involed in the disease cleidocranial dysplasia from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.

spondyloepiphyseal dysplasia congenita Gene Set

From DISEASES Curated Gene-Disease Assocation Evidence Scores

genes involed in the disease spondyloepiphyseal dysplasia congenita from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.

spondyloepimetaphyseal dysplasia, strudwick type Gene Set

From DISEASES Curated Gene-Disease Assocation Evidence Scores

genes involed in the disease spondyloepimetaphyseal dysplasia, strudwick type from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.

diastrophic dysplasia Gene Set

From DISEASES Curated Gene-Disease Assocation Evidence Scores

genes involed in the disease diastrophic dysplasia from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.

multiple epiphyseal dysplasia Gene Set

From DISEASES Curated Gene-Disease Assocation Evidence Scores

genes involed in the disease multiple epiphyseal dysplasia from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.

thanatophoric dysplasia Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

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

metaphyseal dysplasia Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

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

spondyloepimetaphyseal dysplasia, strudwick type Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

genes co-occuring with the disease spondyloepimetaphyseal dysplasia, strudwick type in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

dentin dysplasia Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

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

spondyloepimetaphyseal dysplasia, missouri type Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

genes co-occuring with the disease spondyloepimetaphyseal dysplasia, missouri type in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

spondyloepiphyseal dysplasia congenita Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

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

spondyloepimetaphyseal dysplasia, sponastrime type Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

genes co-occuring with the disease spondyloepimetaphyseal dysplasia, sponastrime type in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

multiple epiphyseal dysplasia Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

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

acromesomelic dysplasia Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

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

anauxetic dysplasia Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

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

craniometaphyseal dysplasia Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

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

sost-related sclerosing bone dysplasia Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

genes co-occuring with the disease sost-related sclerosing bone dysplasia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

cleidocranial dysplasia Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

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

benign mammary dysplasia Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

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

acromesomelic dysplasia, maroteaux type Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

genes co-occuring with the disease acromesomelic dysplasia, maroteaux type in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

schneckenbecken dysplasia Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

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

otospondylomegaepiphyseal dysplasia Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

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

craniodiaphyseal dysplasia Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

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

diastrophic dysplasia Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

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

thymic dysplasia Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

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

campomelic dysplasia Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

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

spondyloepimetaphyseal dysplasia Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

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

kniest dysplasia Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

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

boomerang dysplasia Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

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

acrocapitofemoral dysplasia Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

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

fibrous dysplasia Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

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

achondroplasia; musculoskeletal abnormalities; osteochondrodysplasias; thanatophoric dysplasia Gene Set

From GAD Gene-Disease Associations

genes associated with the disease achondroplasia; musculoskeletal abnormalities; osteochondrodysplasias; thanatophoric dysplasia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

multiple epiphyseal dysplasia Gene Set

From GAD Gene-Disease Associations

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

bronchopulmonary dysplasia; infant, newborn, diseases Gene Set

From GAD Gene-Disease Associations

genes associated with the disease bronchopulmonary dysplasia; infant, newborn, diseases in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

fibromuscular dysplasia; hypertension; renal artery obstruction Gene Set

From GAD Gene-Disease Associations

genes associated with the disease fibromuscular dysplasia; hypertension; renal artery obstruction in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

thanatophoric dysplasia Gene Set

From GAD Gene-Disease Associations

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

arrhythmogenic right ventricular dysplasia; Gene Set

From GAD Gene-Disease Associations

genes associated with the disease arrhythmogenic right ventricular dysplasia; in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

intestinal neuronal dysplasia type b (ind b) Gene Set

From GAD Gene-Disease Associations

genes associated with the disease intestinal neuronal dysplasia type b (ind b) in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

bronchopulmonary dysplasia Gene Set

From GAD Gene-Disease Associations

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

arrhythmogenic right ventricular dysplasia; tachycardia, ventricular Gene Set

From GAD Gene-Disease Associations

genes associated with the disease arrhythmogenic right ventricular dysplasia; tachycardia, ventricular in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

arrhythmogenic right ventricular dysplasia; heart failure Gene Set

From GAD Gene-Disease Associations

genes associated with the disease arrhythmogenic right ventricular dysplasia; heart failure in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

multiple epiphyseal dysplasia; pseudoachondroplasia Gene Set

From GAD Gene-Disease Associations

genes associated with the disease multiple epiphyseal dysplasia; pseudoachondroplasia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

arrhythmogenic right ventricular cardiomyopathy/dysplasia Gene Set

From GAD Gene-Disease Associations

genes associated with the disease arrhythmogenic right ventricular cardiomyopathy/dysplasia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

arrhythmogenic right ventricular dysplasia; cardiomyopathies Gene Set

From GAD Gene-Disease Associations

genes associated with the disease arrhythmogenic right ventricular dysplasia; cardiomyopathies in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

arrhythmogenic right ventricular dysplasia; syncope Gene Set

From GAD Gene-Disease Associations

genes associated with the disease arrhythmogenic right ventricular dysplasia; syncope in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

isolated congenital pituitary hypoplasia and septo-optic dysplasia Gene Set

From GAD Gene-Disease Associations

genes associated with the disease isolated congenital pituitary hypoplasia and septo-optic dysplasia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

spondyloepiphyseal dysplasia tall stature and precocious osteoarthritis Gene Set

From GAD Gene-Disease Associations

genes associated with the disease spondyloepiphyseal dysplasia tall stature and precocious osteoarthritis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

osteoarthritis; hip dysplasia Gene Set

From GAD Gene-Disease Associations

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

fibrous dysplasia of bone; osteitis fibrosa disseminata; osteosarcoma Gene Set

From GAD Gene-Disease Associations

genes associated with the disease fibrous dysplasia of bone; osteitis fibrosa disseminata; osteosarcoma in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

pseudoachondroplasia and multiple epiphyseal dysplasia Gene Set

From GAD Gene-Disease Associations

genes associated with the disease pseudoachondroplasia and multiple epiphyseal dysplasia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

strudwick variant of spondyloepimetaphyseal dysplasia Gene Set

From GAD Gene-Disease Associations

genes associated with the disease strudwick variant of spondyloepimetaphyseal dysplasia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

multiple oesophageal dysplasia Gene Set

From GAD Gene-Disease Associations

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

risk of cervical dysplasia Gene Set

From GAD Gene-Disease Associations

genes associated with the disease risk of cervical dysplasia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

arrhythmogenic right ventricular dysplasia; death, sudden, cardiac; sudden cardiac death Gene Set

From GAD Gene-Disease Associations

genes associated with the disease arrhythmogenic right ventricular dysplasia; death, sudden, cardiac; sudden cardiac death in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

hpv-associated cervical dysplasia Gene Set

From GAD Gene-Disease Associations

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

bronchopulmonary dysplasia; chorioamnionitis Gene Set

From GAD Gene-Disease Associations

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

arrhythmogenic right ventricular dysplasia Gene Set

From GAD Gene-Disease Associations

genes associated with the disease arrhythmogenic right ventricular dysplasia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

cleidocranial dysplasia Gene Set

From GAD Gene-Disease Associations

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

familial spondyloepiphyseal dysplasia tarda, brachydactyly, and precocious osteoarthritis Gene Set

From GAD Gene-Disease Associations

genes associated with the disease familial spondyloepiphyseal dysplasia tarda, brachydactyly, and precocious osteoarthritis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

bronchopulmonary dysplasia. Gene Set

From GAD Gene-Disease Associations

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

bronchopulmonary dysplasia; Gene Set

From GAD Gene-Disease Associations

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

arrhythmias, cardiac; arrhythmogenic right ventricular dysplasia Gene Set

From GAD Gene-Disease Associations

genes associated with the disease arrhythmias, cardiac; arrhythmogenic right ventricular dysplasia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

fibrous dysplasia Gene Set

From GAD Gene-Disease Associations

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

dysplasia Gene Set

From GeneRIF Biological Term Annotations

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

Bronchopulmonary dysplasia Gene Set

From GWAS Catalog SNP-Phenotype Associations

genes associated with the Bronchopulmonary dysplasia phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations dataset.

nail dysplasia Gene Set

From HPO Gene-Disease Associations

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

retinal dysplasia Gene Set

From HPO Gene-Disease Associations

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

multiple epiphyseal dysplasia Gene Set

From HPO Gene-Disease Associations

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

acetabular dysplasia Gene Set

From HPO Gene-Disease Associations

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

skeletal dysplasia Gene Set

From HPO Gene-Disease Associations

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

hip dysplasia Gene Set

From HPO Gene-Disease Associations

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

chorioretinal dysplasia Gene Set

From HPO Gene-Disease Associations

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

metaphyseal dysplasia Gene Set

From HPO Gene-Disease Associations

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

spondyloepimetaphyseal dysplasia Gene Set

From HPO Gene-Disease Associations

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

fibrous dysplasia of the bones Gene Set

From HPO Gene-Disease Associations

genes associated with the fibrous dysplasia of the bones phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

frontoparietal cortical dysplasia Gene Set

From HPO Gene-Disease Associations

genes associated with the frontoparietal cortical dysplasia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

lethal skeletal dysplasia Gene Set

From HPO Gene-Disease Associations

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

cortical dysplasia Gene Set

From HPO Gene-Disease Associations

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

brainstem dysplasia Gene Set

From HPO Gene-Disease Associations

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

spondylometaphyseal dysplasia Gene Set

From HPO Gene-Disease Associations

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

polyostotic fibrous dysplasia Gene Set

From HPO Gene-Disease Associations

genes associated with the polyostotic fibrous dysplasia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

cystic renal dysplasia Gene Set

From HPO Gene-Disease Associations

genes associated with the cystic renal dysplasia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

fingernail dysplasia Gene Set

From HPO Gene-Disease Associations

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

epiphyseal dysplasia Gene Set

From HPO Gene-Disease Associations

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

spondyloepiphyseal dysplasia Gene Set

From HPO Gene-Disease Associations

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

optic nerve dysplasia Gene Set

From HPO Gene-Disease Associations

genes associated with the optic nerve dysplasia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

multicystic kidney dysplasia Gene Set

From HPO Gene-Disease Associations

genes associated with the multicystic kidney dysplasia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

polycystic kidney dysplasia Gene Set

From HPO Gene-Disease Associations

genes associated with the polycystic kidney dysplasia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

cerebellar dysplasia Gene Set

From HPO Gene-Disease Associations

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

toenail dysplasia Gene Set

From HPO Gene-Disease Associations

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

renal dysplasia Gene Set

From HPO Gene-Disease Associations

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

diaphyseal dysplasia Gene Set

From HPO Gene-Disease Associations

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

septo-optic dysplasia Gene Set

From HPO Gene-Disease Associations

genes associated with the septo-optic dysplasia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

dysplasia of the femoral head Gene Set

From HPO Gene-Disease Associations

genes associated with the dysplasia of the femoral head phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Septo-Optic Dysplasia Gene Set

From HuGE Navigator Gene-Phenotype Associations

genes associated with the Septo-Optic Dysplasia phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset.

Bronchopulmonary Dysplasia Gene Set

From HuGE Navigator Gene-Phenotype Associations

genes associated with the Bronchopulmonary Dysplasia phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset.

Thanatophoric Dysplasia Gene Set

From HuGE Navigator Gene-Phenotype Associations

genes associated with the Thanatophoric Dysplasia phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset.

Fibromuscular Dysplasia Gene Set

From HuGE Navigator Gene-Phenotype Associations

genes associated with the Fibromuscular Dysplasia phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset.

Fibrous Dysplasia, Polyostotic Gene Set

From HuGE Navigator Gene-Phenotype Associations

genes associated with the Fibrous Dysplasia, Polyostotic phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset.

Fibrous Dysplasia of Bone Gene Set

From HuGE Navigator Gene-Phenotype Associations

genes associated with the Fibrous Dysplasia of Bone phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset.

Cleidocranial Dysplasia Gene Set

From HuGE Navigator Gene-Phenotype Associations

genes associated with the Cleidocranial Dysplasia phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset.

Uterine Cervical Dysplasia Gene Set

From HuGE Navigator Gene-Phenotype Associations

genes associated with the Uterine Cervical Dysplasia phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset.

Arrhythmogenic Right Ventricular Dysplasia Gene Set

From HuGE Navigator Gene-Phenotype Associations

genes associated with the Arrhythmogenic Right Ventricular Dysplasia phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset.

Adrenocortical dysplasia protein Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Adrenocortical dysplasia protein protein domain from the InterPro Predicted Protein Domain Annotations dataset.

?epiphyseal dysplasia, multiple, 6 Gene Set

From OMIM Gene-Disease Associations

genes associated with the ?epiphyseal dysplasia, multiple, 6 phenotype from the curated OMIM Gene-Disease Associations dataset.

spondyloperipheral dysplasia Gene Set

From OMIM Gene-Disease Associations

genes associated with the spondyloperipheral dysplasia 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.

acampomelic campomelic dysplasia Gene Set

From OMIM Gene-Disease Associations

genes associated with the acampomelic campomelic dysplasia phenotype from the curated OMIM Gene-Disease Associations dataset.

frontometaphyseal dysplasia Gene Set

From OMIM Gene-Disease Associations

genes associated with the frontometaphyseal dysplasia phenotype from the curated OMIM Gene-Disease Associations dataset.

campomelic dysplasia Gene Set

From OMIM Gene-Disease Associations

genes associated with the campomelic dysplasia 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.

developmental dysplasia of the hip 2 Gene Set

From OMIM Gene-Disease Associations

genes associated with the developmental dysplasia of the hip 2 phenotype from the curated OMIM Gene-Disease Associations dataset.

smith-mccort dysplasia 2 Gene Set

From OMIM Gene-Disease Associations

genes associated with the smith-mccort dysplasia 2 phenotype from the curated OMIM Gene-Disease Associations dataset.

parietal foramina with cleidocranial dysplasia Gene Set

From OMIM Gene-Disease Associations

genes associated with the parietal foramina with cleidocranial dysplasia phenotype from the curated OMIM Gene-Disease Associations dataset.

craniometaphyseal dysplasia Gene Set

From OMIM Gene-Disease Associations

genes associated with the craniometaphyseal dysplasia phenotype from the curated OMIM Gene-Disease Associations dataset.

renal-hepatic-pancreatic dysplasia 1 Gene Set

From OMIM Gene-Disease Associations

genes associated with the renal-hepatic-pancreatic dysplasia 1 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.

craniofacial-skeletal-dermatologic dysplasia Gene Set

From OMIM Gene-Disease Associations

genes associated with the craniofacial-skeletal-dermatologic dysplasia phenotype from the curated OMIM Gene-Disease Associations dataset.

focal cortical dysplasia, taylor balloon cell type Gene Set

From OMIM Gene-Disease Associations

genes associated with the focal cortical dysplasia, taylor balloon cell type phenotype from the curated OMIM Gene-Disease Associations dataset.

thanatophoric dysplasia, type i Gene Set

From OMIM Gene-Disease Associations

genes associated with the thanatophoric dysplasia, type i phenotype from the curated OMIM Gene-Disease Associations dataset.

mandibuloacral dysplasia Gene Set

From OMIM Gene-Disease Associations

genes associated with the mandibuloacral dysplasia phenotype from the curated OMIM Gene-Disease Associations dataset.

diastrophic dysplasia, broad bone-platyspondylic variant Gene Set

From OMIM Gene-Disease Associations

genes associated with the diastrophic dysplasia, broad bone-platyspondylic variant phenotype from the curated OMIM Gene-Disease Associations dataset.

otospondylomegaepiphyseal dysplasia Gene Set

From OMIM Gene-Disease Associations

genes associated with the otospondylomegaepiphyseal dysplasia phenotype from the curated OMIM Gene-Disease Associations dataset.

boomerang dysplasia Gene Set

From OMIM Gene-Disease Associations

genes associated with the boomerang dysplasia phenotype from the curated OMIM Gene-Disease Associations dataset.

frontonasal dysplasia 1 Gene Set

From OMIM Gene-Disease Associations

genes associated with the frontonasal dysplasia 1 phenotype from the curated OMIM Gene-Disease Associations dataset.

frontonasal dysplasia 2 Gene Set

From OMIM Gene-Disease Associations

genes associated with the frontonasal dysplasia 2 phenotype from the curated OMIM Gene-Disease Associations dataset.

craniolenticulosutural dysplasia Gene Set

From OMIM Gene-Disease Associations

genes associated with the craniolenticulosutural dysplasia phenotype from the curated OMIM Gene-Disease Associations dataset.

cranioectodermal dysplasia 4 Gene Set

From OMIM Gene-Disease Associations

genes associated with the cranioectodermal dysplasia 4 phenotype from the curated OMIM Gene-Disease Associations dataset.

cranioectodermal dysplasia 2 Gene Set

From OMIM Gene-Disease Associations

genes associated with the cranioectodermal dysplasia 2 phenotype from the curated OMIM Gene-Disease Associations dataset.

cranioectodermal dysplasia 3 Gene Set

From OMIM Gene-Disease Associations

genes associated with the cranioectodermal dysplasia 3 phenotype from the curated OMIM Gene-Disease Associations dataset.

cranioectodermal dysplasia 1 Gene Set

From OMIM Gene-Disease Associations

genes associated with the cranioectodermal dysplasia 1 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.

spondylometaepiphyseal dysplasia, short limb-hand type Gene Set

From OMIM Gene-Disease Associations

genes associated with the spondylometaepiphyseal dysplasia, short limb-hand type phenotype from the curated OMIM Gene-Disease Associations dataset.

oculodentodigital dysplasia Gene Set

From OMIM Gene-Disease Associations

genes associated with the oculodentodigital dysplasia phenotype from the curated OMIM Gene-Disease Associations dataset.

greenberg skeletal dysplasia Gene Set

From OMIM Gene-Disease Associations

genes associated with the greenberg skeletal dysplasia phenotype from the curated OMIM Gene-Disease Associations dataset.

acromesomelic dysplasia, maroteaux type Gene Set

From OMIM Gene-Disease Associations

genes associated with the acromesomelic dysplasia, maroteaux type 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.

smith-mccort dysplasia Gene Set

From OMIM Gene-Disease Associations

genes associated with the smith-mccort dysplasia phenotype from the curated OMIM Gene-Disease Associations dataset.

craniodiaphyseal dysplasia, autosomal dominant Gene Set

From OMIM Gene-Disease Associations

genes associated with the craniodiaphyseal dysplasia, autosomal dominant phenotype from the curated OMIM Gene-Disease Associations dataset.

epiphyseal dysplasia, multiple, with myopathy Gene Set

From OMIM Gene-Disease Associations

genes associated with the epiphyseal dysplasia, multiple, with myopathy phenotype from the curated OMIM Gene-Disease Associations dataset.

septooptic dysplasia Gene Set

From OMIM Gene-Disease Associations

genes associated with the septooptic dysplasia phenotype from the curated OMIM Gene-Disease Associations dataset.

acromesomelic dysplasia, hunter-thompson type Gene Set

From OMIM Gene-Disease Associations

genes associated with the acromesomelic dysplasia, hunter-thompson type phenotype from the curated OMIM Gene-Disease Associations dataset.

spondyloepimetaphyseal dysplasia, missouri type Gene Set

From OMIM Gene-Disease Associations

genes associated with the spondyloepimetaphyseal dysplasia, missouri type phenotype from the curated OMIM Gene-Disease Associations dataset.

arrhythmogenic right ventricular dysplasia 11 Gene Set

From OMIM Gene-Disease Associations

genes associated with the arrhythmogenic right ventricular dysplasia 11 phenotype from the curated OMIM Gene-Disease Associations dataset.

macrocephaly with multiple epiphyseal dysplasia and distinctive facies Gene Set

From OMIM Gene-Disease Associations

genes associated with the macrocephaly with multiple epiphyseal dysplasia and distinctive facies phenotype from the curated OMIM Gene-Disease Associations dataset.

spondyloepiphyseal dysplasia tarda Gene Set

From OMIM Gene-Disease Associations

genes associated with the spondyloepiphyseal dysplasia tarda phenotype from the curated OMIM Gene-Disease Associations dataset.

spondyloepimetaphyseal dysplasia Gene Set

From OMIM Gene-Disease Associations

genes associated with the spondyloepimetaphyseal dysplasia phenotype from the curated OMIM Gene-Disease Associations dataset.

diastrophic dysplasia Gene Set

From OMIM Gene-Disease Associations

genes associated with the diastrophic dysplasia phenotype from the curated OMIM Gene-Disease Associations dataset.

platyspondylic skeletal dysplasia, torrance type Gene Set

From OMIM Gene-Disease Associations

genes associated with the platyspondylic skeletal dysplasia, torrance type phenotype from the curated OMIM Gene-Disease Associations dataset.

schneckenbecken dysplasia Gene Set

From OMIM Gene-Disease Associations

genes associated with the schneckenbecken dysplasia phenotype from the curated OMIM Gene-Disease Associations dataset.

dentin dysplasia, type ii Gene Set

From OMIM Gene-Disease Associations

genes associated with the dentin dysplasia, type ii phenotype from the curated OMIM Gene-Disease Associations dataset.

de la chapelle dysplasia Gene Set

From OMIM Gene-Disease Associations

genes associated with the de la chapelle dysplasia phenotype from the curated OMIM Gene-Disease Associations dataset.

craniometaphyseal dysplasia, autosomal recessive Gene Set

From OMIM Gene-Disease Associations

genes associated with the craniometaphyseal dysplasia, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.

alveolar capillary dysplasia with misalignment of pulmonary veins Gene Set

From OMIM Gene-Disease Associations

genes associated with the alveolar capillary dysplasia with misalignment of pulmonary veins phenotype from the curated OMIM Gene-Disease Associations dataset.

kniest dysplasia Gene Set

From OMIM Gene-Disease Associations

genes associated with the kniest dysplasia phenotype from the curated OMIM Gene-Disease Associations dataset.

epiphyseal dysplasia, multiple, with myopia and deafness Gene Set

From OMIM Gene-Disease Associations

genes associated with the epiphyseal dysplasia, multiple, with myopia and deafness phenotype from the curated OMIM Gene-Disease Associations dataset.

acrocapitofemoral dysplasia Gene Set

From OMIM Gene-Disease Associations

genes associated with the acrocapitofemoral dysplasia phenotype from the curated OMIM Gene-Disease Associations dataset.

spondylometaphyseal dysplasia with cone-rod dystrophy Gene Set

From OMIM Gene-Disease Associations

genes associated with the spondylometaphyseal dysplasia with cone-rod dystrophy phenotype from the curated OMIM Gene-Disease Associations dataset.

spondyloepiphyseal dysplasia tarda with progressive arthropathy Gene Set

From OMIM Gene-Disease Associations

genes associated with the spondyloepiphyseal dysplasia tarda with progressive arthropathy phenotype from the curated OMIM Gene-Disease Associations dataset.

craniofrontonasal dysplasia Gene Set

From OMIM Gene-Disease Associations

genes associated with the craniofrontonasal dysplasia phenotype from the curated OMIM Gene-Disease Associations dataset.

{renal dysplasia, cystic, susceptibility to} Gene Set

From OMIM Gene-Disease Associations

genes associated with the {renal dysplasia, cystic, susceptibility to} phenotype from the curated OMIM Gene-Disease Associations dataset.

langer mesomelic dysplasia Gene Set

From OMIM Gene-Disease Associations

genes associated with the langer mesomelic dysplasia phenotype from the curated OMIM Gene-Disease Associations dataset.

vitreoretinopathy with phalangeal epiphyseal dysplasia Gene Set

From OMIM Gene-Disease Associations

genes associated with the vitreoretinopathy with phalangeal epiphyseal dysplasia phenotype from the curated OMIM Gene-Disease Associations dataset.

acromicric dysplasia Gene Set

From OMIM Gene-Disease Associations

genes associated with the acromicric dysplasia 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.

acropectorovertebral dysplasia Gene Set

From OMIM Gene-Disease Associations

genes associated with the acropectorovertebral dysplasia phenotype from the curated OMIM Gene-Disease Associations dataset.

dentin dysplasia, type i, with microdontia and misshapen teeth Gene Set

From OMIM Gene-Disease Associations

genes associated with the dentin dysplasia, type i, with microdontia and misshapen teeth phenotype from the curated OMIM Gene-Disease Associations dataset.

?cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia Gene Set

From OMIM Gene-Disease Associations

genes associated with the ?cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia phenotype from the curated OMIM Gene-Disease Associations dataset.

spondylometaphyseal dysplasia, kozlowski type Gene Set

From OMIM Gene-Disease Associations

genes associated with the spondylometaphyseal dysplasia, kozlowski type phenotype from the curated OMIM Gene-Disease Associations dataset.

arrhythmogenic right ventricular dysplasia 10 Gene Set

From OMIM Gene-Disease Associations

genes associated with the arrhythmogenic right ventricular dysplasia 10 phenotype from the curated OMIM Gene-Disease Associations dataset.

arrhythmogenic right ventricular dysplasia 12 Gene Set

From OMIM Gene-Disease Associations

genes associated with the arrhythmogenic right ventricular dysplasia 12 phenotype from the curated OMIM Gene-Disease Associations dataset.

hypoparathyroidism, sensorineural deafness, and renal dysplasia Gene Set

From OMIM Gene-Disease Associations

genes associated with the hypoparathyroidism, sensorineural deafness, and renal dysplasia phenotype from the curated OMIM Gene-Disease Associations dataset.

mental retardation-skeletal dysplasia Gene Set

From OMIM Gene-Disease Associations

genes associated with the mental retardation-skeletal dysplasia phenotype from the curated OMIM Gene-Disease Associations dataset.

desbuquois dysplasia Gene Set

From OMIM Gene-Disease Associations

genes associated with the desbuquois dysplasia phenotype from the curated OMIM Gene-Disease Associations dataset.

spondylo-megaepiphyseal-metaphyseal dysplasia Gene Set

From OMIM Gene-Disease Associations

genes associated with the spondylo-megaepiphyseal-metaphyseal dysplasia phenotype from the curated OMIM Gene-Disease Associations dataset.

anauxetic dysplasia Gene Set

From OMIM Gene-Disease Associations

genes associated with the anauxetic dysplasia 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.

epiphyseal dysplasia, multiple 1 Gene Set

From OMIM Gene-Disease Associations

genes associated with the epiphyseal dysplasia, multiple 1 phenotype from the curated OMIM Gene-Disease Associations dataset.

cleidocranial dysplasia Gene Set

From OMIM Gene-Disease Associations

genes associated with the cleidocranial dysplasia phenotype from the curated OMIM Gene-Disease Associations dataset.

gnathodiaphyseal dysplasia Gene Set

From OMIM Gene-Disease Associations

genes associated with the gnathodiaphyseal dysplasia phenotype from the curated OMIM Gene-Disease Associations dataset.

focal facial dermal dysplasia 4 Gene Set

From OMIM Gene-Disease Associations

genes associated with the focal facial dermal dysplasia 4 phenotype from the curated OMIM Gene-Disease Associations dataset.

arrhythmogenic right ventricular dysplasia 2 Gene Set

From OMIM Gene-Disease Associations

genes associated with the arrhythmogenic right ventricular dysplasia 2 phenotype from the curated OMIM Gene-Disease Associations dataset.

spondyloepimetaphyseal dysplasia with joint laxity, type 2 Gene Set

From OMIM Gene-Disease Associations

genes associated with the spondyloepimetaphyseal dysplasia with joint laxity, type 2 phenotype from the curated OMIM Gene-Disease Associations dataset.

schimke immunoosseous dysplasia Gene Set

From OMIM Gene-Disease Associations

genes associated with the schimke immunoosseous dysplasia 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.

arrhythmogenic right ventricular dysplasia, familial, 13 Gene Set

From OMIM Gene-Disease Associations

genes associated with the arrhythmogenic right ventricular dysplasia, familial, 13 phenotype from the curated OMIM Gene-Disease Associations dataset.

mandibuloacral dysplasia with type b lipodystrophy Gene Set

From OMIM Gene-Disease Associations

genes associated with the mandibuloacral dysplasia with type b lipodystrophy phenotype from the curated OMIM Gene-Disease Associations dataset.

terminal osseous dysplasia Gene Set

From OMIM Gene-Disease Associations

genes associated with the terminal osseous dysplasia phenotype from the curated OMIM Gene-Disease Associations dataset.

desbuquois dysplasia 2 Gene Set

From OMIM Gene-Disease Associations

genes associated with the desbuquois dysplasia 2 phenotype from the curated OMIM Gene-Disease Associations dataset.

?frontonasal dysplasia 3 Gene Set

From OMIM Gene-Disease Associations

genes associated with the ?frontonasal dysplasia 3 phenotype from the curated OMIM Gene-Disease Associations dataset.

epiphyseal dysplasia, multiple, 3 Gene Set

From OMIM Gene-Disease Associations

genes associated with the epiphyseal dysplasia, multiple, 3 phenotype from the curated OMIM Gene-Disease Associations dataset.

epiphyseal dysplasia, multiple, 2 Gene Set

From OMIM Gene-Disease Associations

genes associated with the epiphyseal dysplasia, multiple, 2 phenotype from the curated OMIM Gene-Disease Associations dataset.

epiphyseal dysplasia, multiple, 5 Gene Set

From OMIM Gene-Disease Associations

genes associated with the epiphyseal dysplasia, multiple, 5 phenotype from the curated OMIM Gene-Disease Associations dataset.

epiphyseal dysplasia, multiple, 4 Gene Set

From OMIM Gene-Disease Associations

genes associated with the epiphyseal dysplasia, multiple, 4 phenotype from the curated OMIM Gene-Disease Associations dataset.

cardiac valvular dysplasia, x-linked Gene Set

From OMIM Gene-Disease Associations

genes associated with the cardiac valvular dysplasia, x-linked phenotype from the curated OMIM Gene-Disease Associations dataset.

campomelic dysplasia with autosomal sex reversal Gene Set

From OMIM Gene-Disease Associations

genes associated with the campomelic dysplasia with autosomal sex reversal phenotype from the curated OMIM Gene-Disease Associations dataset.

arrhythmogenic right ventricular dysplasia 1 Gene Set

From OMIM Gene-Disease Associations

genes associated with the arrhythmogenic right ventricular dysplasia 1 phenotype from the curated OMIM Gene-Disease Associations dataset.

arrhythmogenic right ventricular dysplasia 3 Gene Set

From OMIM Gene-Disease Associations

genes associated with the arrhythmogenic right ventricular dysplasia 3 phenotype from the curated OMIM Gene-Disease Associations dataset.

arrhythmogenic right ventricular dysplasia 5 Gene Set

From OMIM Gene-Disease Associations

genes associated with the arrhythmogenic right ventricular dysplasia 5 phenotype from the curated OMIM Gene-Disease Associations dataset.

arrhythmogenic right ventricular dysplasia 4 Gene Set

From OMIM Gene-Disease Associations

genes associated with the arrhythmogenic right ventricular dysplasia 4 phenotype from the curated OMIM Gene-Disease Associations dataset.

arrhythmogenic right ventricular dysplasia 6 Gene Set

From OMIM Gene-Disease Associations

genes associated with the arrhythmogenic right ventricular dysplasia 6 phenotype from the curated OMIM Gene-Disease Associations dataset.

arrhythmogenic right ventricular dysplasia 9 Gene Set

From OMIM Gene-Disease Associations

genes associated with the arrhythmogenic right ventricular dysplasia 9 phenotype from the curated OMIM Gene-Disease Associations dataset.

arrhythmogenic right ventricular dysplasia 8 Gene Set

From OMIM Gene-Disease Associations

genes associated with the arrhythmogenic right ventricular dysplasia 8 phenotype from the curated OMIM Gene-Disease Associations dataset.

geleophysic dysplasia 1 Gene Set

From OMIM Gene-Disease Associations

genes associated with the geleophysic dysplasia 1 phenotype from the curated OMIM Gene-Disease Associations dataset.

geleophysic dysplasia 2 Gene Set

From OMIM Gene-Disease Associations

genes associated with the geleophysic dysplasia 2 phenotype from the curated OMIM Gene-Disease Associations dataset.

dyssegmental dysplasia, silverman-handmaker type Gene Set

From OMIM Gene-Disease Associations

genes associated with the dyssegmental dysplasia, silverman-handmaker type phenotype from the curated OMIM Gene-Disease Associations dataset.

gracile bone dysplasia Gene Set

From OMIM Gene-Disease Associations

genes associated with the gracile bone dysplasia 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.

odontoonychodermal dysplasia Gene Set

From OMIM Gene-Disease Associations

genes associated with the odontoonychodermal dysplasia phenotype from the curated OMIM Gene-Disease Associations dataset.

hip dysplasia, beukes type Gene Set

From OMIM Gene-Disease Associations

genes associated with the hip dysplasia, beukes type phenotype from the curated OMIM Gene-Disease Associations dataset.

cleidocranial dysplasia, forme fruste, with brachydactyly Gene Set

From OMIM Gene-Disease Associations

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

cortical dysplasia, complex, with other brain malformations 2 Gene Set

From OMIM Gene-Disease Associations

genes associated with the cortical dysplasia, complex, with other brain malformations 2 phenotype from the curated OMIM Gene-Disease Associations dataset.

cortical dysplasia, complex, with other brain malformations 3 Gene Set

From OMIM Gene-Disease Associations

genes associated with the cortical dysplasia, complex, with other brain malformations 3 phenotype from the curated OMIM Gene-Disease Associations dataset.

cortical dysplasia, complex, with other brain malformations 1 Gene Set

From OMIM Gene-Disease Associations

genes associated with the cortical dysplasia, complex, with other brain malformations 1 phenotype from the curated OMIM Gene-Disease Associations dataset.

cortical dysplasia, complex, with other brain malformations 6 Gene Set

From OMIM Gene-Disease Associations

genes associated with the cortical dysplasia, complex, with other brain malformations 6 phenotype from the curated OMIM Gene-Disease Associations dataset.

cortical dysplasia, complex, with other brain malformations 4 Gene Set

From OMIM Gene-Disease Associations

genes associated with the cortical dysplasia, complex, with other brain malformations 4 phenotype from the curated OMIM Gene-Disease Associations dataset.

cortical dysplasia, complex, with other brain malformations 5 Gene Set

From OMIM Gene-Disease Associations

genes associated with the cortical dysplasia, complex, with other brain malformations 5 phenotype from the curated OMIM Gene-Disease Associations dataset.

arrhythmogenic right ventricular dysplasia 11 with mild palmoplantar keratoderma and woolly hair Gene Set

From OMIM Gene-Disease Associations

genes associated with the arrhythmogenic right ventricular dysplasia 11 with mild palmoplantar keratoderma and woolly hair phenotype from the curated OMIM Gene-Disease Associations dataset.

focal facial dermal dysplasia 3, setleis type Gene Set

From OMIM Gene-Disease Associations

genes associated with the focal facial dermal dysplasia 3, setleis type 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.

czech dysplasia Gene Set

From OMIM Gene-Disease Associations

genes associated with the czech dysplasia phenotype from the curated OMIM Gene-Disease Associations dataset.

spondyloepimetaphyseal dysplasia, aggrecan type Gene Set

From OMIM Gene-Disease Associations

genes associated with the spondyloepimetaphyseal dysplasia, aggrecan type phenotype from the curated OMIM Gene-Disease Associations dataset.

oculodentodigital dysplasia, autosomal recessive Gene Set

From OMIM Gene-Disease Associations

genes associated with the oculodentodigital dysplasia, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.

mesomelic dysplasia, kantaputra type Gene Set

From OMIM Gene-Disease Associations

genes associated with the mesomelic dysplasia, kantaputra type 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.

spondyloepiphyseal dysplasia, kimberley type Gene Set

From OMIM Gene-Disease Associations

genes associated with the spondyloepiphyseal dysplasia, kimberley type 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.

metatropic dysplasia Gene Set

From OMIM Gene-Disease Associations

genes associated with the metatropic dysplasia phenotype from the curated OMIM Gene-Disease Associations dataset.

thanatophoric dysplasia, type ii Gene Set

From OMIM Gene-Disease Associations

genes associated with the thanatophoric dysplasia, type ii phenotype from the curated OMIM Gene-Disease Associations dataset.

?renal-hepatic-pancreatic dysplasia 2 Gene Set

From OMIM Gene-Disease Associations

genes associated with the ?renal-hepatic-pancreatic dysplasia 2 phenotype from the curated OMIM Gene-Disease Associations dataset.

osteoglophonic dysplasia Gene Set

From OMIM Gene-Disease Associations

genes associated with the osteoglophonic dysplasia phenotype from the curated OMIM Gene-Disease Associations dataset.

spondyloepiphyseal dysplasia with congenital joint dislocations Gene Set

From OMIM Gene-Disease Associations

genes associated with the spondyloepiphyseal dysplasia with congenital joint dislocations phenotype from the curated OMIM Gene-Disease Associations dataset.

Defective TBXAS1 causes Ghosal hematodiaphyseal dysplasia (GHDD) Gene Set

From Reactome Pathways

proteins participating in the Defective TBXAS1 causes Ghosal hematodiaphyseal dysplasia (GHDD) pathway from the Reactome Pathways dataset.

Defective CYP26C1 causes Focal facial dermal dysplasia 4 (FFDD4) Gene Set

From Reactome Pathways

proteins participating in the Defective CYP26C1 causes Focal facial dermal dysplasia 4 (FFDD4) pathway from the Reactome Pathways dataset.

Defective SLC35D1 causes Schneckenbecken dysplasia (SCHBCKD) Gene Set

From Reactome Pathways

proteins participating in the Defective SLC35D1 causes Schneckenbecken dysplasia (SCHBCKD) pathway from the Reactome Pathways dataset.

chronic ulcerative colitis (CUC), ulcerative colitis?associated dysplasia (UCD), colitis-associated cancer (CAC) Gene Set

From PhosphoSitePlus Phosphosite-Disease Associations

proteins associated with the disease chronic ulcerative colitis (CUC), ulcerative colitis?associated dysplasia (UCD), colitis-associated cancer (CAC) from the curated PhosphoSitePlus Phosphosite-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.

IFAP syndrome with or without BRESHECK syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

Lynch syndrome I:Lynch syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

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

From ClinVar Gene-Phenotype Associations

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

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

From CTD Gene-Disease Associations

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

Digeorge Syndrome/Velocardiofacial Syndrome Complex 2 Gene Set

From CTD Gene-Disease Associations

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

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

From GAD Gene-Disease Associations

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

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

From GAD Gene-Disease Associations

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

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

From GAD Gene-Disease Associations

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

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.

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.

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

From GAD Gene-Disease Associations

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

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

From GAD Gene-Disease Associations

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

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

From GAD Gene-Disease Associations

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

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

From GAD Gene-Disease Associations

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

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

From GAD Gene-Disease Associations

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

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

From GAD Gene-Disease Associations

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

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

From GAD Gene-Disease Associations

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

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

From GAD Gene-Disease Associations

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

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

From GAD Gene-Disease Associations

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

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

From GAD Gene-Disease Associations

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

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

From GAD Gene-Disease Associations

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

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

From GAD Gene-Disease Associations

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

down syndrome; ehlers-danlos syndrome Gene Set

From GAD Gene-Disease Associations

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

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

From GAD Gene-Disease Associations

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

polycystic ovarian syndrome; polycystic ovary syndrome; thrombophilia Gene Set

From GAD Gene-Disease Associations

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

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

From GAD Gene-Disease Associations

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

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

From GAD Gene-Disease Associations

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

heart-hand syndrome, holt-oram syndrome Gene Set

From GAD Gene-Disease Associations

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

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

From GAD Gene-Disease Associations

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

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

From GAD Gene-Disease Associations

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

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

From GAD Gene-Disease Associations

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

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

From GAD Gene-Disease Associations

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

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

From GAD Gene-Disease Associations

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

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

From GAD Gene-Disease Associations

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

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

From GAD Gene-Disease Associations

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

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

From GAD Gene-Disease Associations

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

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

From OMIM Gene-Disease Associations

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

digeorge syndrome/velocardiofacial syndrome complex-2 Gene Set

From OMIM Gene-Disease Associations

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

ifap syndrome with or without bresheck syndrome Gene Set

From OMIM Gene-Disease Associations

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

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.

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.

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.

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.

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.

Hereditary Paraganglioma-Pheochromocytoma Syndromes Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Hereditary Paraganglioma-Pheochromocytoma Syndromes 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.

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.

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.

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.

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.

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.

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.

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.

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.