Name

atrial septal defects; congenital heart defects; heart defects, congenital; heart septal defects, atrial; heart septal defects, ventricular; ventricular septal defects Gene Set

From GAD Gene-Disease Associations

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

atrial septal defects; cardiomyopathy, dilated; congenital heart defects; dcm - dilated cardiomyopathy; heart defects, congenital; heart septal defects, atrial Gene Set

From GAD Gene-Disease Associations

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

congenital heart defects; down syndrome; heart defects, congenital; heart septal defects Gene Set

From GAD Gene-Disease Associations

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

Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Lymphedema-posterior choanal atresia syndrome Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Lymphedema-posterior choanal atresia syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

heart defects, congenital; heart septal defects, atrial; heart septal defects, ventricular Gene Set

From GAD Gene-Disease Associations

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

congenital heart defects; heart defects, congenital; heart septal defects; tetralogy of fallot Gene Set

From GAD Gene-Disease Associations

genes associated with the disease congenital heart defects; heart defects, congenital; heart septal defects; tetralogy of fallot in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

CHOANAL ATRESIA AND LYMPHEDEMA Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease CHOANAL ATRESIA AND LYMPHEDEMA from the curated CTD Gene-Disease Associations dataset.

choanal atresia Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores

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

posterior choanal atresia Gene Set

From HPO Gene-Disease Associations

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

choanal atresia Gene Set

From HPO Gene-Disease Associations

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

Choanal Atresia Gene Set

From HuGE Navigator Gene-Phenotype Associations

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

choanal atresia Gene Set

From MPO Gene-Phenotype Associations

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

choanal atresia and lymphedema Gene Set

From OMIM Gene-Disease Associations

genes associated with the choanal atresia and lymphedema phenotype from the curated OMIM Gene-Disease Associations dataset.

Choanal Atresia Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Choanal Atresia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Bilateral Choanal Atresia Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Bilateral Choanal Atresia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Bilateral Choanal Atresia/Stenosis Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Bilateral Choanal Atresia/Stenosis in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Arhinia, Choanal Atresia, And Microphthalmia Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Arhinia, Choanal Atresia, And Microphthalmia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Choanal Atresia Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Choanal Atresia in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

choanal atresia Gene Set

From MGI Mouse Phenotype Associations 2023

gene mutations causing the choanal atresia phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.

Choanal atresia Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025

genes co-occuring with the disease Choanal atresia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 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.

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.

congenital heart defects; heart defects, congenital; syndrome Gene Set

From GAD Gene-Disease Associations

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

abnormalities, multiple; coloboma; congenital heart defects; disease models, animal; facial paralysis; heart defects, congenital; syndrome Gene Set

From GAD Gene-Disease Associations

genes associated with the disease abnormalities, multiple; coloboma; congenital heart defects; disease models, animal; facial paralysis; heart defects, congenital; syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

aortic coarctation; aortic valve stenosis; congenital heart defects; discrete subaortic stenosis; heart defects, congenital; hypoplastic left heart syndrome; pulmonary valve stenosis Gene Set

From GAD Gene-Disease Associations

genes associated with the disease aortic coarctation; aortic valve stenosis; congenital heart defects; discrete subaortic stenosis; heart defects, congenital; hypoplastic left heart syndrome; pulmonary valve stenosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

double outlet right ventricle; heart defects, congenital; pulmonary atresia; tetralogy of fallot; transposition of great vessels; truncus arteriosus, persistent Gene Set

From GAD Gene-Disease Associations

genes associated with the disease double outlet right ventricle; heart defects, congenital; pulmonary atresia; tetralogy of fallot; transposition of great vessels; truncus arteriosus, persistent in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

congenital heart defects; folic acid deficiency; heart defects, congenital Gene Set

From GAD Gene-Disease Associations

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

apoplexy; atrial septal defects; brain ischemia; diabetes mellitus; heart septal defects, atrial; hypertension; intracranial thrombosis; ischemic attack, transient; stroke; transient ischemic attack Gene Set

From GAD Gene-Disease Associations

genes associated with the disease apoplexy; atrial septal defects; brain ischemia; diabetes mellitus; heart septal defects, atrial; hypertension; intracranial thrombosis; ischemic attack, transient; stroke; transient ischemic attack in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

congenital heart defects; heart defects, congenital; obesity Gene Set

From GAD Gene-Disease Associations

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

atrial septal defects; death, sudden; heart septal defects, atrial; isolated noncompaction of the ventricular myocardium; syncope Gene Set

From GAD Gene-Disease Associations

genes associated with the disease atrial septal defects; death, sudden; heart septal defects, atrial; isolated noncompaction of the ventricular myocardium; syncope in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

heart septal defects, ventricular; ventricular septal defects Gene Set

From GAD Gene-Disease Associations

genes associated with the disease heart septal defects, ventricular; ventricular septal defects in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

congenital heart defects; coronary disease; coronary heart disease; heart defects, congenital Gene Set

From GAD Gene-Disease Associations

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

cleft lip; cleft palate; congenital heart defects; heart defects, congenital; hyperhomocysteinemia Gene Set

From GAD Gene-Disease Associations

genes associated with the disease cleft lip; cleft palate; congenital heart defects; heart defects, congenital; hyperhomocysteinemia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

heart defects, congenital; heart septal defects, ventricular; tetralogy of fallot Gene Set

From GAD Gene-Disease Associations

genes associated with the disease heart defects, congenital; heart septal defects, ventricular; tetralogy of fallot in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

congenital heart defects; heart defects, congenital Gene Set

From GAD Gene-Disease Associations

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

heart defects, congenital; heart septal defects, ventricular Gene Set

From GAD Gene-Disease Associations

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

congenital heart defects; heart defects, congenital; ventricular outflow obstruction Gene Set

From GAD Gene-Disease Associations

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

apoplexy; atrial septal defects; heart septal defects, atrial; stroke; thromboembolism Gene Set

From GAD Gene-Disease Associations

genes associated with the disease apoplexy; atrial septal defects; heart septal defects, atrial; stroke; thromboembolism in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

congenital heart defects; heart defects, congenital; nervous system diseases Gene Set

From GAD Gene-Disease Associations

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

atrial septal defects; heart septal defects, atrial; tetralogy of fallot Gene Set

From GAD Gene-Disease Associations

genes associated with the disease atrial septal defects; heart septal defects, atrial; tetralogy of fallot in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

apoplexy; atrial septal defects; embolism, paradoxical; heart septal defects, atrial; migraine with aura; stroke; thrombophilia Gene Set

From GAD Gene-Disease Associations

genes associated with the disease apoplexy; atrial septal defects; embolism, paradoxical; heart septal defects, atrial; migraine with aura; stroke; thrombophilia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

body weight; congenital heart defects; growth disorders; heart defects, congenital Gene Set

From GAD Gene-Disease Associations

genes associated with the disease body weight; congenital heart defects; growth disorders; heart defects, congenital in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

choanal stenosis Gene Set

From HPO Gene-Disease Associations

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

Choanal Stenosis Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Choanal Stenosis in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

choanal stenosis Gene Set

From MGI Mouse Phenotype Associations 2023

gene mutations causing the choanal stenosis phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 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.

Congenital Junctional Epidermolysis Bullosa-Pyloric Atresia Syndrome Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Congenital Junctional Epidermolysis Bullosa-Pyloric Atresia Syndrome in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Biliary Atresia With Splenic Malformation Syndrome Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Biliary Atresia With Splenic Malformation Syndrome in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Anophthalmia/microphthalmia-esophageal atresia syndrome Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Anophthalmia/microphthalmia-esophageal atresia syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 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.

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.

Alopecia, Neurologic Defects, and Endocrinopathy Syndrome Gene Set

From CTD Gene-Disease Associations

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

antiphospholipid syndrome; arterial occlusive diseases; blood coagulation disorders, inherited; cardiomyopathy, dilated; heart defects, congenital; heart diseases; thrombophilia; thrombosis Gene Set

From GAD Gene-Disease Associations

genes associated with the disease antiphospholipid syndrome; arterial occlusive diseases; blood coagulation disorders, inherited; cardiomyopathy, dilated; heart defects, congenital; heart diseases; thrombophilia; thrombosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

birth weight; congenital abnormalities; heart defects, congenital; postoperative complications; syndrome Gene Set

From GAD Gene-Disease Associations

genes associated with the disease birth weight; congenital abnormalities; heart defects, congenital; postoperative complications; syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

down syndrome; heart defects, congenital Gene Set

From GAD Gene-Disease Associations

genes associated with the disease down syndrome; heart defects, congenital in GWAS and other genetic association datasets from the GAD 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.

down syndrome; heart defects, congenital; hypertension, pulmonary Gene Set

From GAD Gene-Disease Associations

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

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

From OMIM Gene-Disease Associations

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

alopecia, neurologic defects, and endocrinopathy syndrome Gene Set

From OMIM Gene-Disease Associations

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

Structural Heart Defects And Renal Anomalies Syndrome Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Structural Heart Defects And Renal Anomalies Syndrome in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

ankyloblepharon-ectodermal defects-cleft lip/palate syndrome Gene Set

From DISEASES Curated Gene-Disease Association Evidence Scores 2025

genes involed in the disease ankyloblepharon-ectodermal defects-cleft lip/palate syndrome from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset.

alopecia, neurologic defects, and endocrinopathy syndrome Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025

genes co-occuring with the disease alopecia, neurologic defects, and endocrinopathy syndrome in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

ankyloblepharon-ectodermal defects-cleft lip/palate syndrome Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025

genes co-occuring with the disease ankyloblepharon-ectodermal defects-cleft lip/palate syndrome in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Terminal osseous dysplasia-pigmentary defects syndrome Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Terminal osseous dysplasia-pigmentary defects syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Gastrointestinal defects and immunodeficiency syndrome Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Gastrointestinal defects and immunodeficiency syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Short stature-pituitary and cerebellar defects-small sella turcica syndrome Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Short stature-pituitary and cerebellar defects-small sella turcica syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Congenital heart defects and skeletal malformations syndrome Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Congenital heart defects and skeletal malformations syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Structural heart defects and renal anomalies syndrome Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Structural heart defects and renal anomalies syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 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.

Epidermolysis bullosa simplex with pyloric atresia Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Epidermolysis bullosa simplex with pyloric atresia phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Epidermolysis bullosa with pyloric atresia Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Epidermolysis bullosa with pyloric atresia phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Short stature, auditory canal atresia, mandibular hypoplasia, skeletal abnormalities Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Short stature, auditory canal atresia, mandibular hypoplasia, skeletal abnormalities phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Pyloric Atresia Gene Set

From CTD Gene-Disease Associations

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

Epidermolysis bullosa with pyloric atresia Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Epidermolysis bullosa with pyloric atresia from the curated CTD Gene-Disease Associations dataset.

Biliary Atresia Gene Set

From CTD Gene-Disease Associations

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

Epidermolysis Bullosa Simplex With Pyloric Atresia Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Epidermolysis Bullosa Simplex With Pyloric Atresia from the curated CTD Gene-Disease Associations dataset.

biliary atresia Gene Set

From DISEASES Experimental Gene-Disease Association Evidence Scores

genes associated with the disease biliary atresia in GWAS datasets from the DISEASES Experimental Gene-Disease Assocation Evidence Scores dataset.

intestinal atresia Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores

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

multiple intestinal atresia Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores

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

biliary atresia Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores

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

esophageal atresia Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores

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

cholestasis; biliary atresia Gene Set

From GAD Gene-Disease Associations

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

biliary atresia Gene Set

From GAD Gene-Disease Associations

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

biliary atresia; choledochal cyst; Gene Set

From GAD Gene-Disease Associations

genes associated with the disease biliary atresia; choledochal cyst; in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

esophageal atresia Gene Set

From GAD Gene-Disease Associations

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

biliary atresia; liver diseases; primary graft dysfunction Gene Set

From GAD Gene-Disease Associations

genes associated with the disease biliary atresia; liver diseases; primary graft dysfunction in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

biliary atresia; Gene Set

From GAD Gene-Disease Associations

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

atresia Gene Set

From GeneRIF Biological Term Annotations

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

ovarian follicle atresia Gene Set

From GO Biological Process Annotations 2015

genes participating in the ovarian follicle atresia biological process from the curated GO Biological Process Annotations 2015 dataset.

Biliary atresia Gene Set

From GWAS Catalog SNP-Phenotype Associations

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

biliary atresia Gene Set

From GWASdb SNP-Disease Associations

genes associated with the disease biliary atresia in GWAS and other genetic association datasets from the GWASdb SNP-Disease Associations dataset.

biliary atresia Gene Set

From GWASdb SNP-Phenotype Associations

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

laryngeal atresia Gene Set

From HPO Gene-Disease Associations

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

anal atresia Gene Set

From HPO Gene-Disease Associations

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

genital tract atresia Gene Set

From HPO Gene-Disease Associations

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

biliary atresia Gene Set

From HPO Gene-Disease Associations

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

jejunal atresia Gene Set

From HPO Gene-Disease Associations

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

aortic valve atresia Gene Set

From HPO Gene-Disease Associations

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

gastrointestinal atresia Gene Set

From HPO Gene-Disease Associations

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

vaginal atresia Gene Set

From HPO Gene-Disease Associations

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

distal ileal atresia Gene Set

From HPO Gene-Disease Associations

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

intestinal atresia Gene Set

From HPO Gene-Disease Associations

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

ureteral atresia Gene Set

From HPO Gene-Disease Associations

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

duodenal atresia Gene Set

From HPO Gene-Disease Associations

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

esophageal atresia Gene Set

From HPO Gene-Disease Associations

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

atrioventricular canal defect with right ventricle aorta and pulmonary atresia Gene Set

From HPO Gene-Disease Associations

genes associated with the atrioventricular canal defect with right ventricle aorta and pulmonary atresia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

mitral atresia Gene Set

From HPO Gene-Disease Associations

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

atresia of the external auditory canal Gene Set

From HPO Gene-Disease Associations

genes associated with the atresia of the external auditory canal phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

lacrimal duct atresia Gene Set

From HPO Gene-Disease Associations

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

urethral atresia Gene Set

From HPO Gene-Disease Associations

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

pulmonary artery atresia Gene Set

From HPO Gene-Disease Associations

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

congenital pyloric atresia Gene Set

From HPO Gene-Disease Associations

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

ileal atresia Gene Set

From HPO Gene-Disease Associations

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

Biliary Atresia Gene Set

From HuGE Navigator Gene-Phenotype Associations

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

Tricuspid Atresia Gene Set

From HuGE Navigator Gene-Phenotype Associations

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

Esophageal Atresia Gene Set

From HuGE Navigator Gene-Phenotype Associations

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

Intestinal Atresia Gene Set

From HuGE Navigator Gene-Phenotype Associations

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

aortic valve atresia Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the aortic valve atresia phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

anal atresia Gene Set

From MPO Gene-Phenotype Associations

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

oral atresia Gene Set

From MPO Gene-Phenotype Associations

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

urethra atresia Gene Set

From MPO Gene-Phenotype Associations

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

rectal atresia Gene Set

From MPO Gene-Phenotype Associations

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

cecal atresia Gene Set

From MPO Gene-Phenotype Associations

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

mitral valve atresia Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the mitral valve atresia phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

esophageal atresia Gene Set

From MPO Gene-Phenotype Associations

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

pulmonary valve atresia Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the pulmonary valve atresia phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

ureteropelvic junction atresia Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the ureteropelvic junction atresia phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

uterus atresia Gene Set

From MPO Gene-Phenotype Associations

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

vagina atresia Gene Set

From MPO Gene-Phenotype Associations

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

tricuspid valve atresia Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the tricuspid valve atresia phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

intestinal atresia, multiple Gene Set

From OMIM Gene-Disease Associations

genes associated with the intestinal atresia, multiple phenotype from the curated OMIM Gene-Disease Associations dataset.

aural atresia, congenital Gene Set

From OMIM Gene-Disease Associations

genes associated with the aural atresia, congenital phenotype from the curated OMIM Gene-Disease Associations dataset.

epidermolysis bullosa, junctional, with pyloric atresia Gene Set

From OMIM Gene-Disease Associations

genes associated with the epidermolysis bullosa, junctional, with pyloric atresia phenotype from the curated OMIM Gene-Disease Associations dataset.

epidermolysis bullosa simplex with pyloric atresia Gene Set

From OMIM Gene-Disease Associations

genes associated with the epidermolysis bullosa simplex with pyloric atresia phenotype from the curated OMIM Gene-Disease Associations dataset.

short stature, auditory canal atresia, mandibular hypoplasia, skeletal abnormalities Gene Set

From OMIM Gene-Disease Associations

genes associated with the short stature, auditory canal atresia, mandibular hypoplasia, skeletal abnormalities phenotype from the curated OMIM Gene-Disease Associations dataset.

Aural Atresia, Congenital Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Aural Atresia, Congenital in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Esophageal Atresia Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Esophageal Atresia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Biliary Atresia Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Biliary Atresia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Congenital Atresia Of Extrahepatic Bile Duct Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Congenital Atresia Of Extrahepatic Bile Duct in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Pyloric Atresia Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Pyloric Atresia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Atresia Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Atresia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Congenital Atresia Of Pulmonary Artery Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Congenital Atresia Of Pulmonary Artery in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Congenital Atresia Of Mitral Valve Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Congenital Atresia Of Mitral Valve in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Congenital Atresia Of Nasopharynx Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Congenital Atresia Of Nasopharynx in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Congenital Atresia Of Large Intestine Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Congenital Atresia Of Large Intestine in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Tricuspid Atresia Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Tricuspid Atresia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Urethral Atresia Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Urethral Atresia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Anorectal Atresia Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Anorectal Atresia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Esophageal Atresia With Or Without Tracheoesophageal Fistula Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Esophageal Atresia With Or Without Tracheoesophageal Fistula in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Duodenal Atresia Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Duodenal Atresia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Jejunal Atresia Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Jejunal Atresia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Jejunal Atresia With Microcephaly And Ocular Anomalies Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Jejunal Atresia With Microcephaly And Ocular Anomalies in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Congenital Atresia Of Pulmonary Valve Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Congenital Atresia Of Pulmonary Valve in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Intestinal Atresia Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Intestinal Atresia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Congenital Pyloric Atresia Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Congenital Pyloric Atresia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

External Auditory Canal, Bilateral Atresia Of, With Congenital Vertical Talus Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease External Auditory Canal, Bilateral Atresia Of, With Congenital Vertical Talus in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Pulmonary Atresia With Ventricular Septal Defect Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Pulmonary Atresia With Ventricular Septal Defect in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Gastrointestinal Atresia Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Gastrointestinal Atresia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Congenital Atresia Of Larynx Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Congenital Atresia Of Larynx in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Congenital Atresia Of Trachea Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Congenital Atresia Of Trachea in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Familial Extrahepatic Biliary Atresia Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Familial Extrahepatic Biliary Atresia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Idiopathic Extrahepatic Biliary Atresia Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Idiopathic Extrahepatic Biliary Atresia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Congenital Atresia Of Vas Deferens Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Congenital Atresia Of Vas Deferens in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Pulmonary Atresia With Intact Ventricular Septum Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Pulmonary Atresia With Intact Ventricular Septum in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Congenital Atresia Of Aortic Valve Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Congenital Atresia Of Aortic Valve in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Congenital Atresia Of Colon Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Congenital Atresia Of Colon in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Congenital Atresia Of Rectum Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Congenital Atresia Of Rectum in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Esophageal Atresia With Tracheoesophageal Fistula (Disorder) Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Esophageal Atresia With Tracheoesophageal Fistula (Disorder) in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Congenital Absence, Atresia And Stricture Of Auditory Canal (External) Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Congenital Absence, Atresia And Stricture Of Auditory Canal (External) in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Congenital Atresia Of Ileum Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Congenital Atresia Of Ileum in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Intrahepatic Biliary Atresia Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Intrahepatic Biliary Atresia in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Distal Ileal Atresia Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Distal Ileal Atresia in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Atresia Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Atresia in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

cecal atresia Gene Set

From MGI Mouse Phenotype Associations 2023

gene mutations causing the cecal atresia phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.

vagina atresia Gene Set

From MGI Mouse Phenotype Associations 2023

gene mutations causing the vagina atresia phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.

mitral valve atresia Gene Set

From MGI Mouse Phenotype Associations 2023

gene mutations causing the mitral valve atresia phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.

blood vessel atresia Gene Set

From MGI Mouse Phenotype Associations 2023

gene mutations causing the blood vessel atresia phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.

anal atresia Gene Set

From MGI Mouse Phenotype Associations 2023

gene mutations causing the anal atresia phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.

esophageal atresia Gene Set

From MGI Mouse Phenotype Associations 2023

gene mutations causing the esophageal atresia phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.

oral atresia Gene Set

From MGI Mouse Phenotype Associations 2023

gene mutations causing the oral atresia phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.

ureteropelvic junction atresia Gene Set

From MGI Mouse Phenotype Associations 2023

gene mutations causing the ureteropelvic junction atresia phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.

tricuspid valve atresia Gene Set

From MGI Mouse Phenotype Associations 2023

gene mutations causing the tricuspid valve atresia phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.

urethra atresia Gene Set

From MGI Mouse Phenotype Associations 2023

gene mutations causing the urethra atresia phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.

rectal atresia Gene Set

From MGI Mouse Phenotype Associations 2023

gene mutations causing the rectal atresia phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.

uterus atresia Gene Set

From MGI Mouse Phenotype Associations 2023

gene mutations causing the uterus atresia phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.

pulmonary valve atresia Gene Set

From MGI Mouse Phenotype Associations 2023

gene mutations causing the pulmonary valve atresia phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.

aortic valve atresia Gene Set

From MGI Mouse Phenotype Associations 2023

gene mutations causing the aortic valve atresia phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.

colon atresia Gene Set

From MGI Mouse Phenotype Associations 2023

gene mutations causing the colon atresia phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.

biliary atresia Gene Set

From MGI Mouse Phenotype Associations 2023

gene mutations causing the biliary atresia phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.

Junctional epidermolysis bullosa with pyloric atresia Gene Set

From DISEASES Curated Gene-Disease Association Evidence Scores 2025

genes involed in the disease Junctional epidermolysis bullosa with pyloric atresia from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset.

Biliary atresia Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025

genes co-occuring with the disease Biliary atresia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Multiple intestinal atresia Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025

genes co-occuring with the disease Multiple intestinal atresia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Intestinal atresia Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025

genes co-occuring with the disease Intestinal atresia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Esophageal atresia Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025

genes co-occuring with the disease Esophageal atresia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Duodenal atresia Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025

genes co-occuring with the disease Duodenal atresia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Tricuspid atresia Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025

genes co-occuring with the disease Tricuspid atresia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Esophageal atresia/tracheoesophageal fistula Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025

genes co-occuring with the disease Esophageal atresia/tracheoesophageal fistula in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Junctional epidermolysis bullosa with pyloric atresia Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025

genes co-occuring with the disease Junctional epidermolysis bullosa with pyloric atresia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Esophageal atresia/tracheoesophageal fistula Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Esophageal atresia/tracheoesophageal fistula phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Aural atresia Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Aural atresia phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Aortic valve atresia Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Aortic valve atresia phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Mitral atresia disorder Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Mitral atresia disorder phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Pulmonary atresia Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Pulmonary atresia phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Pulmonary artery atresia Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Pulmonary artery atresia phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Esophageal atresia Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Esophageal atresia phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Biliary atresia Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Biliary atresia phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Combined cellular and humoral immune defects with granulomas Gene Set

From ClinVar Gene-Phenotype Associations

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

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

From ClinVar Gene-Phenotype Associations

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

Forebrain defects Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Forebrain defects phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 1, X-LINKED Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 1, X-LINKED phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Congenital heart defects, multiple types, 4 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Congenital heart defects, multiple types, 4 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Skeletal defects, genital hypoplasia, and mental retardation Gene Set

From ClinVar Gene-Phenotype Associations

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

Heart Septal Defects, Ventricular Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Heart Septal Defects, Ventricular from the curated CTD Gene-Disease Associations dataset.

Combined Cellular And Humoral Immune Defects With Granulomas Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Combined Cellular And Humoral Immune Defects With Granulomas from the curated CTD Gene-Disease Associations dataset.

Congenital Hemidysplasia with Ichthyosiform Erythroderma and Limb Defects Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Congenital Hemidysplasia with Ichthyosiform Erythroderma and Limb Defects from the curated CTD Gene-Disease Associations dataset.

Heart Septal Defects Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Heart Septal Defects from the curated CTD Gene-Disease Associations dataset.

Neural Tube Defects Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Neural Tube Defects from the curated CTD Gene-Disease Associations dataset.

Skeletal Defects, Genital Hypoplasia, And Mental Retardation Gene Set

From CTD Gene-Disease Associations

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

Laterality Defects, Autosomal Dominant Gene Set

From CTD Gene-Disease Associations

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

Heart Septal Defects, Atrial Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Heart Septal Defects, Atrial from the curated CTD Gene-Disease Associations dataset.

Heart Defects, Congenital Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Heart Defects, Congenital from the curated CTD Gene-Disease Associations dataset.

Color Vision Defects Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Color Vision Defects from the curated CTD Gene-Disease Associations dataset.

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

From CTD Gene-Disease Associations

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

congenital heart defects Gene Set

From GAD Gene-Disease Associations

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

heart defects, congenital; hyperhomocysteinemia Gene Set

From GAD Gene-Disease Associations

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

cleft palate and calvaria defects. Gene Set

From GAD Gene-Disease Associations

genes associated with the disease cleft palate and calvaria defects. in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

neural tube defects; dihydropyrimidine dehydrogenase Gene Set

From GAD Gene-Disease Associations

genes associated with the disease neural tube defects; dihydropyrimidine dehydrogenase in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

birth defects Gene Set

From GAD Gene-Disease Associations

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

dilatation, pathologic; heart defects, congenital Gene Set

From GAD Gene-Disease Associations

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

anoxia; blood coagulation disorders, inherited; heart defects, congenital; infection; polycythemia; postoperative complications; thrombosis Gene Set

From GAD Gene-Disease Associations

genes associated with the disease anoxia; blood coagulation disorders, inherited; heart defects, congenital; infection; polycythemia; postoperative complications; thrombosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

cardiomyopathies; heart defects, congenital Gene Set

From GAD Gene-Disease Associations

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

anencephaly; folic acid deficiency; neural tube defects; pregnancy complications; spinal dysraphism Gene Set

From GAD Gene-Disease Associations

genes associated with the disease anencephaly; folic acid deficiency; neural tube defects; pregnancy complications; spinal dysraphism in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

atrial fibrillation; heart septal defects Gene Set

From GAD Gene-Disease Associations

genes associated with the disease atrial fibrillation; heart septal defects in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

axial skeletal defects Gene Set

From GAD Gene-Disease Associations

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

left-right laterality defects Gene Set

From GAD Gene-Disease Associations

genes associated with the disease left-right laterality defects in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

heart septal defects, ventricular Gene Set

From GAD Gene-Disease Associations

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

neural tube defects and preeclampsia Gene Set

From GAD Gene-Disease Associations

genes associated with the disease neural tube defects and preeclampsia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

neural tube defects Gene Set

From GAD Gene-Disease Associations

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

color vision defects; retinal degeneration Gene Set

From GAD Gene-Disease Associations

genes associated with the disease color vision defects; retinal degeneration in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

heart septal defects, atrial; tetralogy of fallot Gene Set

From GAD Gene-Disease Associations

genes associated with the disease heart septal defects, atrial; tetralogy of fallot in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

heart defects, congenital Gene Set

From GAD Gene-Disease Associations

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

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

From GAD Gene-Disease Associations

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

ductus arteriosus, patent; heart septal defects, atrial Gene Set

From GAD Gene-Disease Associations

genes associated with the disease ductus arteriosus, patent; heart septal defects, atrial in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

visual field defects Gene Set

From GAD Gene-Disease Associations

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

heart defects, congenital; hyperhomocysteinemia; prenatal exposure delayed effects Gene Set

From GAD Gene-Disease Associations

genes associated with the disease heart defects, congenital; hyperhomocysteinemia; prenatal exposure delayed effects in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

neural tube defects; pregnancy complications Gene Set

From GAD Gene-Disease Associations

genes associated with the disease neural tube defects; pregnancy complications in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

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

From GAD Gene-Disease Associations

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

heart defects, congenital; spinal dysraphism Gene Set

From GAD Gene-Disease Associations

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

coronary disease; coronary heart disease; neural tube defects Gene Set

From GAD Gene-Disease Associations

genes associated with the disease coronary disease; coronary heart disease; neural tube defects in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

heart defects, congenital; tetralogy of fallot Gene Set

From GAD Gene-Disease Associations

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

heart septal defects Gene Set

From GAD Gene-Disease Associations

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

heart septal defects, ventricular; hypertension, pulmonary Gene Set

From GAD Gene-Disease Associations

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

neural tube defects; spinal dysraphism Gene Set

From GAD Gene-Disease Associations

genes associated with the disease neural tube defects; spinal dysraphism in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

defects Gene Set

From GeneRIF Biological Term Annotations

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

Conotruncal heart defects Gene Set

From GWAS Catalog SNP-Phenotype Associations

genes associated with the Conotruncal heart defects phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations dataset.

progressive visual field defects Gene Set

From HPO Gene-Disease Associations

genes associated with the progressive visual field defects phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

osteolytic defects of the distal phalanges of the hand Gene Set

From HPO Gene-Disease Associations

genes associated with the osteolytic defects of the distal phalanges of the hand phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

lung segmentation defects Gene Set

From HPO Gene-Disease Associations

genes associated with the lung segmentation defects phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

pulmonary valve defects Gene Set

From HPO Gene-Disease Associations

genes associated with the pulmonary valve defects phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

mitochondrial respiratory chain defects Gene Set

From HPO Gene-Disease Associations

genes associated with the mitochondrial respiratory chain defects phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

symmetrical, oval parietal bone defects Gene Set

From HPO Gene-Disease Associations

genes associated with the symmetrical, oval parietal bone defects phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

osteolytic defects of the phalanges of the hand Gene Set

From HPO Gene-Disease Associations

genes associated with the osteolytic defects of the phalanges of the hand phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

osteolytic defects of the distal phalanges of the toes Gene Set

From HPO Gene-Disease Associations

genes associated with the osteolytic defects of the distal phalanges of the toes phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

osteolytic defects of the hand bones Gene Set

From HPO Gene-Disease Associations

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

forearm reduction defects Gene Set

From HPO Gene-Disease Associations

genes associated with the forearm reduction defects phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

osteolytic defects of the phalanges of the toes Gene Set

From HPO Gene-Disease Associations

genes associated with the osteolytic defects of the phalanges of the toes phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

asymmetric, linear skin defects Gene Set

From HPO Gene-Disease Associations

genes associated with the asymmetric, linear skin defects phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Heart Septal Defects, Ventricular Gene Set

From HuGE Navigator Gene-Phenotype Associations

genes associated with the Heart Septal Defects, Ventricular phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset.

Endocardial Cushion Defects Gene Set

From HuGE Navigator Gene-Phenotype Associations

genes associated with the Endocardial Cushion Defects phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset.

Heart Defects, Congenital Gene Set

From HuGE Navigator Gene-Phenotype Associations

genes associated with the Heart Defects, Congenital phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset.

Color Vision Defects Gene Set

From HuGE Navigator Gene-Phenotype Associations

genes associated with the Color Vision Defects phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset.

Heart Septal Defects Gene Set

From HuGE Navigator Gene-Phenotype Associations

genes associated with the Heart Septal Defects phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset.

Heart Septal Defects, Atrial Gene Set

From HuGE Navigator Gene-Phenotype Associations

genes associated with the Heart Septal Defects, Atrial phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset.

Neural Tube Defects Gene Set

From HuGE Navigator Gene-Phenotype Associations

genes associated with the Neural Tube Defects phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset.

skeletal defects, genital hypoplasia, and mental retardation Gene Set

From OMIM Gene-Disease Associations

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

{neural tube defects, susceptibility to} Gene Set

From OMIM Gene-Disease Associations

genes associated with the {neural tube defects, susceptibility to} phenotype from the curated OMIM Gene-Disease Associations dataset.

forebrain defects Gene Set

From OMIM Gene-Disease Associations

genes associated with the forebrain defects phenotype from the curated OMIM Gene-Disease Associations dataset.

congenital heart defects, nonsyndromic, 1, x-linked Gene Set

From OMIM Gene-Disease Associations

genes associated with the congenital heart defects, nonsyndromic, 1, x-linked phenotype from the curated OMIM Gene-Disease Associations dataset.

congenital heart defects, multiple types, 4 Gene Set

From OMIM Gene-Disease Associations

genes associated with the congenital heart defects, multiple types, 4 phenotype from the curated OMIM Gene-Disease Associations dataset.

congenital heart defects, multiple types, 3 Gene Set

From OMIM Gene-Disease Associations

genes associated with the congenital heart defects, multiple types, 3 phenotype from the curated OMIM Gene-Disease Associations dataset.

{neural tube defects, folate-sensitive, susceptibility to} Gene Set

From OMIM Gene-Disease Associations

genes associated with the {neural tube defects, folate-sensitive, susceptibility to} phenotype from the curated OMIM Gene-Disease Associations dataset.

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

From OMIM Gene-Disease Associations

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

combined cellular and humoral immune defects with granulomas Gene Set

From OMIM Gene-Disease Associations

genes associated with the combined cellular and humoral immune defects with granulomas phenotype from the curated OMIM Gene-Disease Associations dataset.

neural tube defects Gene Set

From OMIM Gene-Disease Associations

genes associated with the neural tube defects phenotype from the curated OMIM Gene-Disease Associations dataset.

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

From OMIM Gene-Disease Associations

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

congenital heart defects, nonsyndromic, 2 Gene Set

From OMIM Gene-Disease Associations

genes associated with the congenital heart defects, nonsyndromic, 2 phenotype from the curated OMIM Gene-Disease Associations dataset.

pancreatic agenesis and congenital heart defects Gene Set

From OMIM Gene-Disease Associations

genes associated with the pancreatic agenesis and congenital heart defects phenotype from the curated OMIM Gene-Disease Associations dataset.

Defects in cobalamin (B12) metabolism Gene Set

From Reactome Pathways 2014

proteins participating in the Defects in cobalamin (B12) metabolism pathway from the Reactome Pathways dataset.

Defects in vitamin and cofactor metabolism Gene Set

From Reactome Pathways 2014

proteins participating in the Defects in vitamin and cofactor metabolism pathway from the Reactome Pathways dataset.

Defects in biotin (Btn) metabolism Gene Set

From Reactome Pathways 2014

proteins participating in the Defects in biotin (Btn) metabolism pathway from the Reactome Pathways dataset.

Congenital Heart Defects Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Congenital Heart Defects in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Neural Tube Defects, Susceptibility To Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Neural Tube Defects, Susceptibility To in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Linear Skin Defects With Multiple Congenital Anomalies Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Linear Skin Defects With Multiple Congenital Anomalies in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Terminal Osseous Dysplasia And Pigmentary Defects Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Terminal Osseous Dysplasia And Pigmentary Defects in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Heart Defects, Congenital, And Other Congenital Anomalies Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Heart Defects, Congenital, And Other Congenital Anomalies in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Neural Tube Defects X-Linked Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Neural Tube Defects X-Linked in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Forebrain Defects Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Forebrain Defects in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Brain Malformations With Or Without Urinary Tract Defects Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Brain Malformations With Or Without Urinary Tract Defects in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Combined Cellular And Humoral Immune Defects With Granulomas Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Combined Cellular And Humoral Immune Defects With Granulomas in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Other Specified Coagulation Defects Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Other Specified Coagulation Defects in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Arterial Occlusive Disease, Progressive, With Hypertension, Heart Defects, Bone Fragility, And Brachysyndactyly Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Arterial Occlusive Disease, Progressive, With Hypertension, Heart Defects, Bone Fragility, And Brachysyndactyly in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Skeletal Defects, Genital Hypoplasia, And Mental Retardation Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Skeletal Defects, Genital Hypoplasia, And Mental Retardation in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Multiple Ventricular Septal Defects Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Multiple Ventricular Septal Defects in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Symmetrical, Oval Parietal Bone Defects Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Symmetrical, Oval Parietal Bone Defects in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Mitochondrial Respiratory Chain Defects Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Mitochondrial Respiratory Chain Defects in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Osteolytic Defects Of The Distal Phalanges Of The Hand Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Osteolytic Defects Of The Distal Phalanges Of The Hand in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Enamel Defects Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Enamel Defects in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Osteochondral Defects Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Osteochondral Defects in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Progressive Visual Field Defects Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Progressive Visual Field Defects in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Asymmetric, Linear Skin Defects Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Asymmetric, Linear Skin Defects in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Pulmonary Valve Defects Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Pulmonary Valve Defects in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Forearm Reduction Defects Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Forearm Reduction Defects in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Glycosylation and related congenital defects Gene Set

From WikiPathways Pathways 2024

proteins participating in the Glycosylation and related congenital defects pathway from the WikiPathways Pathways 2024 dataset.

Amino acid transport defects IEMs Gene Set

From WikiPathways Pathways 2024

proteins participating in the Amino acid transport defects IEMs pathway from the WikiPathways Pathways 2024 dataset.

Hemesynthesis defects and porphyrias Gene Set

From WikiPathways Pathways 2024

proteins participating in the Hemesynthesis defects and porphyrias pathway from the WikiPathways Pathways 2024 dataset.

Aberrant regulation of mitotic G1/S transition in cancer due to RB1 defects Gene Set

From Reactome Pathways 2024

proteins participating in the Aberrant regulation of mitotic G1/S transition in cancer due to RB1 defects pathway from the Reactome Pathways 2024 dataset.

Aberrant regulation of mitotic cell cycle due to RB1 defects Gene Set

From Reactome Pathways 2024

proteins participating in the Aberrant regulation of mitotic cell cycle due to RB1 defects pathway from the Reactome Pathways 2024 dataset.

Aberrant regulation of mitotic exit in cancer due to RB1 defects Gene Set

From Reactome Pathways 2024

proteins participating in the Aberrant regulation of mitotic exit in cancer due to RB1 defects pathway from the Reactome Pathways 2024 dataset.

Defects in biotin (Btn) metabolism Gene Set

From Reactome Pathways 2024

proteins participating in the Defects in biotin (Btn) metabolism pathway from the Reactome Pathways 2024 dataset.

Defects in cobalamin (B12) metabolism Gene Set

From Reactome Pathways 2024

proteins participating in the Defects in cobalamin (B12) metabolism pathway from the Reactome Pathways 2024 dataset.

Defects in vitamin and cofactor metabolism Gene Set

From Reactome Pathways 2024

proteins participating in the Defects in vitamin and cofactor metabolism pathway from the Reactome Pathways 2024 dataset.

Defects of contact activation system (CAS) and kallikrein/kinin system (KKS) Gene Set

From Reactome Pathways 2024

proteins participating in the Defects of contact activation system (CAS) and kallikrein/kinin system (KKS) pathway from the Reactome Pathways 2024 dataset.

Defects of platelet adhesion to exposed collagen Gene Set

From Reactome Pathways 2024

proteins participating in the Defects of platelet adhesion to exposed collagen pathway from the Reactome Pathways 2024 dataset.

Evasion of Oncogene Induced Senescence Due to p14ARF Defects Gene Set

From Reactome Pathways 2024

proteins participating in the Evasion of Oncogene Induced Senescence Due to p14ARF Defects pathway from the Reactome Pathways 2024 dataset.

Evasion of Oncogene Induced Senescence Due to p16INK4A Defects Gene Set

From Reactome Pathways 2024

proteins participating in the Evasion of Oncogene Induced Senescence Due to p16INK4A Defects pathway from the Reactome Pathways 2024 dataset.

Evasion of Oxidative Stress Induced Senescence Due to p14ARF Defects Gene Set

From Reactome Pathways 2024

proteins participating in the Evasion of Oxidative Stress Induced Senescence Due to p14ARF Defects pathway from the Reactome Pathways 2024 dataset.

Evasion of Oxidative Stress Induced Senescence Due to p16INK4A Defects Gene Set

From Reactome Pathways 2024

proteins participating in the Evasion of Oxidative Stress Induced Senescence Due to p16INK4A Defects pathway from the Reactome Pathways 2024 dataset.

Nucleotide catabolism defects Gene Set

From Reactome Pathways 2024

proteins participating in the Nucleotide catabolism defects pathway from the Reactome Pathways 2024 dataset.

Nucleotide salvage defects Gene Set

From Reactome Pathways 2024

proteins participating in the Nucleotide salvage defects pathway from the Reactome Pathways 2024 dataset.

Linear skin defects with multiple congenital anomalies 1 Gene Set

From DISEASES Curated Gene-Disease Association Evidence Scores 2025

genes involed in the disease Linear skin defects with multiple congenital anomalies 1 from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset.

alcohol-related birth defects Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025

genes co-occuring with the disease alcohol-related birth defects in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Linear skin defects with multiple congenital anomalies 1 Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025

genes co-occuring with the disease Linear skin defects with multiple congenital anomalies 1 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Congenital heart defects, hamartomas of tongue, and polysyndactyly Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025

genes co-occuring with the disease Congenital heart defects, hamartomas of tongue, and polysyndactyly in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025

genes co-occuring with the disease Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Combined cellular and humoral immune defects with granulomas Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025

genes co-occuring with the disease Combined cellular and humoral immune defects with granulomas in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Linear skin defects with multiple congenital anomalies 3 Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025

genes co-occuring with the disease Linear skin defects with multiple congenital anomalies 3 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Linear skin defects with multiple congenital anomalies 2 Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025

genes co-occuring with the disease Linear skin defects with multiple congenital anomalies 2 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Neural tube defects Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Neural tube defects phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Neuromuscular disease caused by qualitative or quantitative defects of dysferlin Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Neuromuscular disease caused by qualitative or quantitative defects of dysferlin phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Congenital heart defects Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Congenital heart defects phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Neuromuscular disease caused by qualitative or quantitative defects of dystrophin Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Neuromuscular disease caused by qualitative or quantitative defects of dystrophin phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Qualitative or quantitative defects of merosin Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Qualitative or quantitative defects of merosin phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Mitochondrial respiratory chain defects Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Mitochondrial respiratory chain defects phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Qualitative or quantitative defects of delta-sarcoglycan Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Qualitative or quantitative defects of delta-sarcoglycan phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Qualitative or quantitative defects of beta-sarcoglycan Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Qualitative or quantitative defects of beta-sarcoglycan phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Neuromuscular disease caused by qualitative or quantitative defects of beta-myosin heavy chain Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Neuromuscular disease caused by qualitative or quantitative defects of beta-myosin heavy chain phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Linear skin defects Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Linear skin defects phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Qualitative or quantitative defects of collagen Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Qualitative or quantitative defects of collagen phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Neuromuscular disease caused by qualitative or quantitative defects of alpha-dystroglycan Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Neuromuscular disease caused by qualitative or quantitative defects of alpha-dystroglycan phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Qualitative or quantitative defects of myotubularin Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Qualitative or quantitative defects of myotubularin phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Congenital heart defects and ectodermal dysplasia Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Congenital heart defects and ectodermal dysplasia phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Paneth cell defects in Crohn's disease Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Paneth cell defects in Crohn's disease phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Conotruncal heart defects Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Conotruncal heart defects phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Conotruncal heart defects (maternal effects) Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Conotruncal heart defects (maternal effects) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Conotruncal heart defects (inherited effects) Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Conotruncal heart defects (inherited effects) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Congenital heart disease (septal defects) Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Congenital heart disease (septal defects) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 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.

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.

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

From GAD Gene-Disease Associations

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

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

From GAD Gene-Disease Associations

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

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

From GAD Gene-Disease Associations

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

restless legs syndrome; tourette syndrome Gene Set

From GAD Gene-Disease Associations

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

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

From GAD Gene-Disease Associations

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

polycystic ovarian syndrome; polycystic ovary syndrome Gene Set

From GAD Gene-Disease Associations

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

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

From GAD Gene-Disease Associations

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

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

From GAD Gene-Disease Associations

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

behcet syndrome; uveomeningoencephalitic syndrome Gene Set

From GAD Gene-Disease Associations

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

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

From GAD Gene-Disease Associations

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

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

From GAD Gene-Disease Associations

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

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

From GAD Gene-Disease Associations

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

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

From GAD Gene-Disease Associations

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

melas syndrome; merrf syndrome Gene Set

From GAD Gene-Disease Associations

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

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

From GAD Gene-Disease Associations

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

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

From GAD Gene-Disease Associations

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

infertility; polycystic ovarian syndrome; polycystic ovary syndrome Gene Set

From GAD Gene-Disease Associations

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

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

From GAD Gene-Disease Associations

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

angelman syndrome; rett syndrome; seizures Gene Set

From GAD Gene-Disease Associations

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

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

From GAD Gene-Disease Associations

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

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

From GAD Gene-Disease Associations

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

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

From GAD Gene-Disease Associations

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

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

From GAD Gene-Disease Associations

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

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

From GAD Gene-Disease Associations

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

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

From GAD Gene-Disease Associations

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

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.

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.

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.

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

From DisGeNET Gene-Disease Associations

genes associated with the disease Miller-Mckusick-Malvaux-Syndrome (3M Syndrome) in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Crouzon syndrome-acanthosis nigricans syndrome Gene Set

From DISEASES Curated Gene-Disease Association Evidence Scores 2025

genes involed in the disease Crouzon syndrome-acanthosis nigricans syndrome from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset.

Crouzon syndrome-acanthosis nigricans syndrome Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025

genes co-occuring with the disease Crouzon syndrome-acanthosis nigricans syndrome in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Noonan syndrome and Noonan-related syndrome Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Noonan syndrome and Noonan-related syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Crouzon syndrome-acanthosis nigricans syndrome Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Crouzon syndrome-acanthosis nigricans syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

X-linked cerebral-cerebellar-coloboma syndrome syndrome Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the X-linked cerebral-cerebellar-coloboma syndrome syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Non-Richardson's syndrome vs Richardson's syndrome in progressive supranuclear palsy Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Non-Richardson's syndrome vs Richardson's syndrome in progressive supranuclear palsy phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Sarcoidosis (Lofgren's syndrome vs non-Lofgren's syndrome) Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Sarcoidosis (Lofgren's syndrome vs non-Lofgren's syndrome) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 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.

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.

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.

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.

Weaver syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

Lynch syndrome I Gene Set

From ClinVar Gene-Phenotype Associations

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

Ectodermal dysplasia/short stature syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

Siderius X-linked mental retardation syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

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

From ClinVar Gene-Phenotype Associations

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

Kohlschutter's syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

X-linked mental retardation with marfanoid habitus syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

Cerebro-oculo-facio-skeletal syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

Hypotrichosis-lymphedema-telangiectasia syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

LEOPARD syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

Hermansky-Pudlak syndrome 9 Gene Set

From ClinVar Gene-Phenotype Associations

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

Hermansky-Pudlak syndrome 4 Gene Set

From ClinVar Gene-Phenotype Associations

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

Hermansky-Pudlak syndrome 5 Gene Set

From ClinVar Gene-Phenotype Associations

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

Hermansky-Pudlak syndrome 6 Gene Set

From ClinVar Gene-Phenotype Associations

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

Hermansky-Pudlak syndrome 7 Gene Set

From ClinVar Gene-Phenotype Associations

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

Hermansky-Pudlak syndrome 3 Gene Set

From ClinVar Gene-Phenotype Associations

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

Treacher collins syndrome 1 Gene Set

From ClinVar Gene-Phenotype Associations

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

Wiskott-Aldrich syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

Episodic pain syndrome, familial, 3 Gene Set

From ClinVar Gene-Phenotype Associations

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

Hyper-IgE syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

Tourette Syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

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.

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.

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.

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.

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.

Leprechaunism syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

Simpson-Golabi-Behmel syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

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

From ClinVar Gene-Phenotype Associations

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

XFE progeroid syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

Meckel syndrome type 2 Gene Set

From ClinVar Gene-Phenotype Associations

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

Meckel syndrome type 3 Gene Set

From ClinVar Gene-Phenotype Associations

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

Meckel syndrome type 1 Gene Set

From ClinVar Gene-Phenotype Associations

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

Meckel syndrome type 4 Gene Set

From ClinVar Gene-Phenotype Associations

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

Meckel syndrome type 5 Gene Set

From ClinVar Gene-Phenotype Associations

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

Leigh syndrome due to mitochondrial complex I deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

Dysequilibrium syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

Atypical hemolytic-uremic syndrome 1 Gene Set

From ClinVar Gene-Phenotype Associations

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

Atypical hemolytic-uremic syndrome 3 Gene Set

From ClinVar Gene-Phenotype Associations

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

Johanson-Blizzard syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

GRACILE syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

X-linked lymphoproliferative syndrome 1 Gene Set

From ClinVar Gene-Phenotype Associations

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

Kowarski syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

ADULT syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

Meckel-Gruber syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

X-linked lymphoproliferative syndrome 2 Gene Set

From ClinVar Gene-Phenotype Associations

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

Neutrophil immunodeficiency syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

Coffin-Lowry syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

Auriculocondylar syndrome 2 Gene Set

From ClinVar Gene-Phenotype Associations

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

Auriculocondylar syndrome 3 Gene Set

From ClinVar Gene-Phenotype Associations

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

Auriculocondylar syndrome 1 Gene Set

From ClinVar Gene-Phenotype Associations

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

Ehlers-Danlos syndrome, hydroxylysine-deficient Gene Set

From ClinVar Gene-Phenotype Associations

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

Pierson syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

Pfeiffer syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

Loeys-Dietz syndrome 1 Gene Set

From ClinVar Gene-Phenotype Associations

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

Tricho-dento-osseous syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

Mowat-Wilson syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

Nephrotic syndrome, type 10 Gene Set

From ClinVar Gene-Phenotype Associations

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

Perrault syndrome 5 Gene Set

From ClinVar Gene-Phenotype Associations

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

Perrault syndrome 2 Gene Set

From ClinVar Gene-Phenotype Associations

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

Jensen syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

Werner syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

Aarskog syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

Enamel-renal syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

Joubert syndrome 21 Gene Set

From ClinVar Gene-Phenotype Associations

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

Joubert syndrome 20 Gene Set

From ClinVar Gene-Phenotype Associations

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

Joubert syndrome 22 Gene Set

From ClinVar Gene-Phenotype Associations

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

Multiple synostoses syndrome 2 Gene Set

From ClinVar Gene-Phenotype Associations

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

Popliteal pterygium syndrome lethal type Gene Set

From ClinVar Gene-Phenotype Associations

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

Keutel syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

Pitt-Hopkins syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

Segawa syndrome, autosomal recessive Gene Set

From ClinVar Gene-Phenotype Associations

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

Multiple pterygium syndrome Escobar type Gene Set

From ClinVar Gene-Phenotype Associations

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

Pitt-Hopkins-like syndrome 2 Gene Set

From ClinVar Gene-Phenotype Associations

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

Pitt-Hopkins-like syndrome 1 Gene Set

From ClinVar Gene-Phenotype Associations

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

Lynch syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

Congenital short bowel syndrome, X-linked Gene Set

From ClinVar Gene-Phenotype Associations

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

C syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

Klippel-Feil syndrome 2, autosomal recessive Gene Set

From ClinVar Gene-Phenotype Associations

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

Stiff skin syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

Lenz microphthalmia syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

Autosomal recessive hypohidrotic ectodermal dysplasia syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

Marshall/Stickler syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

Schwartz Jampel syndrome type 1 Gene Set

From ClinVar Gene-Phenotype Associations

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

Grebe syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

Saethre-Chotzen syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

Myasthenic syndrome, slow-channel congenital Gene Set

From ClinVar Gene-Phenotype Associations

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

Floating-Harbor syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

Warburg micro syndrome 1 Gene Set

From ClinVar Gene-Phenotype Associations

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

Warburg micro syndrome 3 Gene Set

From ClinVar Gene-Phenotype Associations

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

Warburg micro syndrome 2 Gene Set

From ClinVar Gene-Phenotype Associations

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

AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE V Gene Set

From ClinVar Gene-Phenotype Associations

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

Hermansky-Pudlak syndrome 1 Gene Set

From ClinVar Gene-Phenotype Associations

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

Osler hemorrhagic telangiectasia syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

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

From ClinVar Gene-Phenotype Associations

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

Wieacker syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

Kabuki make-up syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

Cohen syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

Oligodontia-colorectal cancer syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

Filippi syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

Lethal congenital contractural syndrome 3 Gene Set

From ClinVar Gene-Phenotype Associations

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

Primrose syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

Perrault syndrome 4 Gene Set

From ClinVar Gene-Phenotype Associations

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

Marshall-Smith syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

Loeys-Dietz syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

Brittle cornea syndrome 2 Gene Set

From ClinVar Gene-Phenotype Associations

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

Rotor syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

Oral-facial-digital syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

Acrocallosal syndrome, Schinzel type Gene Set

From ClinVar Gene-Phenotype Associations

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

Gray platelet syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

Mast syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

Amish infantile epilepsy syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

Meacham syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

Stormorken syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

Opitz-Frias syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

Cardio-facio-cutaneous syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

Mitochondrial DNA depletion syndrome 11 Gene Set

From ClinVar Gene-Phenotype Associations

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

Kallmann syndrome 1 Gene Set

From ClinVar Gene-Phenotype Associations

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

Kallmann syndrome 2 Gene Set

From ClinVar Gene-Phenotype Associations

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

Kallmann syndrome 4 Gene Set

From ClinVar Gene-Phenotype Associations

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

Kallmann syndrome 5 Gene Set

From ClinVar Gene-Phenotype Associations

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

Kallmann syndrome 6 Gene Set

From ClinVar Gene-Phenotype Associations

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

Yunis Varon syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

Cowden syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

Mulibrey nanism syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

Ohdo syndrome, X-linked Gene Set

From ClinVar Gene-Phenotype Associations

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

Nephrotic syndrome, idiopathic, steroid-resistant Gene Set

From ClinVar Gene-Phenotype Associations

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

Townes-Brocks-branchiootorenal-like syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

SeSAME syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

Odontotrichomelic syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

Atrioventricular septal defect, partial, with heterotaxy syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

Meckel syndrome, type 6 Gene Set

From ClinVar Gene-Phenotype Associations

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

Infantile liver failure syndrome 1 Gene Set

From ClinVar Gene-Phenotype Associations

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

Infantile liver failure syndrome 2 Gene Set

From ClinVar Gene-Phenotype Associations

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

Lowe syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

Ehlers-Danlos syndrome, type 7B Gene Set

From ClinVar Gene-Phenotype Associations

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

Ehlers-Danlos syndrome, musculocontractural type 2 Gene Set

From ClinVar Gene-Phenotype Associations

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

Multiple congenital anomalies-hypotonia-seizures syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

Rett syndrome, congenital variant Gene Set

From ClinVar Gene-Phenotype Associations

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

Van Maldergem syndrome 2 Gene Set

From ClinVar Gene-Phenotype Associations

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

Robinow syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

Bone marrow failure syndrome 2 Gene Set

From ClinVar Gene-Phenotype Associations

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

Orofaciodigital syndrome 6 Gene Set

From ClinVar Gene-Phenotype Associations

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

Orofaciodigital syndrome 5 Gene Set

From ClinVar Gene-Phenotype Associations

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

Distichiasis-lymphedema syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

Townes syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

Neu-Laxova syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

Winchester syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

Unverricht-Lundborg syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

Verheij syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

Rapp-Hodgkin ectodermal dysplasia syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

Allan-Herndon-Dudley syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

Advanced sleep phase syndrome, familial, 2 Gene Set

From ClinVar Gene-Phenotype Associations

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

Sick sinus syndrome 1, autosomal recessive Gene Set

From ClinVar Gene-Phenotype Associations

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

Arterial tortuosity syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

Juvenile polyposis syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

Papillon-Lefèvre syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

Brown-vialetto-van laere syndrome 2 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Brown-vialetto-van laere syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Microcephaly, epilepsy, and diabetes syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

Peters plus syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

Ulnar-mammary syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

Insulin-dependent diabetes mellitus secretory diarrhea syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

Zunich neuroectodermal syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

Beckwith-Wiedemann syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

Van Maldergem Wetzburger Verloes syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

Sotos' syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

Dyggve-Melchior-Clausen syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

Baraitser-Winter Syndrome 2 Gene Set

From ClinVar Gene-Phenotype Associations

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

Three M syndrome 2 Gene Set

From ClinVar Gene-Phenotype Associations

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

Howel-Evans syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

Senior-Loken syndrome 7 Gene Set

From ClinVar Gene-Phenotype Associations

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

Senior-Loken syndrome 4 Gene Set

From ClinVar Gene-Phenotype Associations

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

Senior-Loken syndrome 5 Gene Set

From ClinVar Gene-Phenotype Associations

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

Myasthenic syndrome, congenital, with tubular aggregates 2 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Myasthenic syndrome, congenital, with tubular aggregates 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

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

From ClinVar Gene-Phenotype Associations

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

Rhabdoid tumor predisposition syndrome 2 Gene Set

From ClinVar Gene-Phenotype Associations

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

Finnish congenital nephrotic syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

Tatton-Brown-rahman syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

COACH syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

Short rib polydactyly syndrome 5 Gene Set

From ClinVar Gene-Phenotype Associations

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

Short rib polydactyly syndrome 6 Gene Set

From ClinVar Gene-Phenotype Associations

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

Enhanced s-cone syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

X-linked hydrocephalus syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

Acquired long QT syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

Van der Woude syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

Cornelia de Lange syndrome 1 Gene Set

From ClinVar Gene-Phenotype Associations

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

Sudden infant death syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

Dursun syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

Carpenter syndrome 2 Gene Set

From ClinVar Gene-Phenotype Associations

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

Li-Fraumeni syndrome 1 Gene Set

From ClinVar Gene-Phenotype Associations

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

Haim-Munk syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

Knobloch syndrome 1 Gene Set

From ClinVar Gene-Phenotype Associations

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

Carbohydrate-deficient glycoprotein syndrome type I Gene Set

From ClinVar Gene-Phenotype Associations

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

Advanced sleep phase syndrome, familial Gene Set

From ClinVar Gene-Phenotype Associations

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

Hypoplastic enamel-onycholysis-hypohidrosis syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

Bardet-Biedl syndrome 9 Gene Set

From ClinVar Gene-Phenotype Associations

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

Bardet-Biedl syndrome 8 Gene Set

From ClinVar Gene-Phenotype Associations

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

Bardet-Biedl syndrome 5 Gene Set

From ClinVar Gene-Phenotype Associations

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

Bardet-Biedl syndrome 4 Gene Set

From ClinVar Gene-Phenotype Associations

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

Bardet-Biedl syndrome 7 Gene Set

From ClinVar Gene-Phenotype Associations

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

Bardet-Biedl syndrome 6 Gene Set

From ClinVar Gene-Phenotype Associations

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

Bardet-Biedl syndrome 1 Gene Set

From ClinVar Gene-Phenotype Associations

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

Jarcho-Levin syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

Bardet-Biedl syndrome 2 Gene Set

From ClinVar Gene-Phenotype Associations

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

Cornelia de Lange syndrome 3 Gene Set

From ClinVar Gene-Phenotype Associations

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

Cornelia de Lange syndrome 4 Gene Set

From ClinVar Gene-Phenotype Associations

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

Cornelia de Lange syndrome 5 Gene Set

From ClinVar Gene-Phenotype Associations

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

Autosomal recessive Dejerine-Sottas syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

Kabuki syndrome 2 Gene Set

From ClinVar Gene-Phenotype Associations

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

Hay-Wells syndrome of ectodermal dysplasia Gene Set

From ClinVar Gene-Phenotype Associations

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

Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type) Gene Set

From ClinVar Gene-Phenotype Associations

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

Reynolds syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

Glut1 deficiency syndrome 1, autosomal recessive Gene Set

From ClinVar Gene-Phenotype Associations

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

Joubert syndrome 12/15, digenic Gene Set

From ClinVar Gene-Phenotype Associations

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

Serkal syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

Marinesco-Sjögren syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

Seckel syndrome 8 Gene Set

From ClinVar Gene-Phenotype Associations

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

Seckel syndrome 2 Gene Set

From ClinVar Gene-Phenotype Associations

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

Seckel syndrome 1 Gene Set

From ClinVar Gene-Phenotype Associations

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

Seckel syndrome 7 Gene Set

From ClinVar Gene-Phenotype Associations

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

Neu-laxova syndrome 2 Gene Set

From ClinVar Gene-Phenotype Associations

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

Urofacial syndrome 2 Gene Set

From ClinVar Gene-Phenotype Associations

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

Gordon's syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

Arts syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

Noonan syndrome 8 Gene Set

From ClinVar Gene-Phenotype Associations

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

Noonan syndrome 5 Gene Set

From ClinVar Gene-Phenotype Associations

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

Noonan syndrome 4 Gene Set

From ClinVar Gene-Phenotype Associations

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

Noonan syndrome 7 Gene Set

From ClinVar Gene-Phenotype Associations

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

Noonan syndrome 6 Gene Set

From ClinVar Gene-Phenotype Associations

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

Noonan syndrome 1 Gene Set

From ClinVar Gene-Phenotype Associations

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

Noonan syndrome 3 Gene Set

From ClinVar Gene-Phenotype Associations

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

McKusick Kaufman syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

Autoimmune polyglandular syndrome type 1, autosomal dominant Gene Set

From ClinVar Gene-Phenotype Associations

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

Rubinstein-Taybi syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

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

From ClinVar Gene-Phenotype Associations

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

FG syndrome 2 Gene Set

From ClinVar Gene-Phenotype Associations

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

Loeys-Dietz syndrome, type 2 Gene Set

From ClinVar Gene-Phenotype Associations

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

Stickler syndrome type 1 Gene Set

From ClinVar Gene-Phenotype Associations

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

Polyglandular autoimmune syndrome, type 1 Gene Set

From ClinVar Gene-Phenotype Associations

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

Bernard-Soulier syndrome, type A1 Gene Set

From ClinVar Gene-Phenotype Associations

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

Arthrogryposis renal dysfunction cholestasis syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

EEM syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

Cardiofaciocutaneous syndrome 2 Gene Set

From ClinVar Gene-Phenotype Associations

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

TARP syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

AUTOIMMUNE POLYENDOCRINOPATHY SYNDROME, TYPE I Gene Set

From ClinVar Gene-Phenotype Associations

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

Drash syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

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

From ClinVar Gene-Phenotype Associations

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

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.

Microcephaly, hiatal hernia and nephrotic syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

Pallister-Hall syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

Radial aplasia-thrombocytopenia syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Radial aplasia-thrombocytopenia syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Griscelli syndrome type 2 Gene Set

From ClinVar Gene-Phenotype Associations

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

Griscelli syndrome type 3 Gene Set

From ClinVar Gene-Phenotype Associations

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

Caudal regression syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

Catel Manzke syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

Trichohepatoenteric syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

Cockayne syndrome type A Gene Set

From ClinVar Gene-Phenotype Associations

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

Warsaw breakage syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

Bardet-Biedl syndrome 10 Gene Set

From ClinVar Gene-Phenotype Associations

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

Bardet-Biedl syndrome 13 Gene Set

From ClinVar Gene-Phenotype Associations

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

Bardet-Biedl syndrome 12 Gene Set

From ClinVar Gene-Phenotype Associations

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

Bardet-Biedl syndrome 15 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Bardet-Biedl syndrome 15 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Bardet-Biedl syndrome 17 Gene Set

From ClinVar Gene-Phenotype Associations

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

Bardet-Biedl syndrome 16 Gene Set

From ClinVar Gene-Phenotype Associations

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

Popliteal pterygium syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

SHORT syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

Jervell and Lange-Nielsen syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

Bainbridge-Ropers syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

Orofaciodigital syndrome xiv Gene Set

From ClinVar Gene-Phenotype Associations

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

Leigh syndrome, French Canadian type Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Leigh syndrome, French Canadian type phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

XERODERMA PIGMENTOSUM, TYPE F/COCKAYNE SYNDROME Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the XERODERMA PIGMENTOSUM, TYPE F/COCKAYNE 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.

Pachydermoperiostosis syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

Bardet-Biedl syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

Crouzon syndrome with acanthosis nigricans Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Crouzon syndrome with acanthosis nigricans phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Leigh syndrome due to mitochondrial complex II deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Nance-Horan syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

Multiple mitochondrial dysfunctions syndrome 3 Gene Set

From ClinVar Gene-Phenotype Associations

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

Multiple mitochondrial dysfunctions syndrome 1 Gene Set

From ClinVar Gene-Phenotype Associations

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

Saethre-Chotzen syndrome with eyelid anomalies Gene Set

From ClinVar Gene-Phenotype Associations

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

Gerstmann-Straussler-Scheinker syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Gerstmann-Straussler-Scheinker syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Curry-Hall syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

Familial multiple polyposis syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

Kartagener syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

Cutis Gyrata syndrome of Beare and Stevenson Gene Set

From ClinVar Gene-Phenotype Associations

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

Donnai Barrow syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

Klippel-Feil syndrome 1, autosomal dominant Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Klippel-Feil syndrome 1, autosomal dominant phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Dubin-Johnson syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

Loeys-Dietz syndrome type 3 Gene Set

From ClinVar Gene-Phenotype Associations

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

Riddle syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

Cold-induced sweating syndrome 1 Gene Set

From ClinVar Gene-Phenotype Associations

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

Oto-palato-digital syndrome, type I Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Oto-palato-digital syndrome, type I phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Cockayne syndrome, type B Gene Set

From ClinVar Gene-Phenotype Associations

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

Wagner syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

STICKLER SYNDROME, TYPE I, NONSYNDROMIC OCULAR Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the STICKLER SYNDROME, TYPE I, NONSYNDROMIC OCULAR phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Joubert syndrome 6 Gene Set

From ClinVar Gene-Phenotype Associations

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

Schinzel-Giedion syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

Bowen-Conradi syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

ATR-X syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

Gardner syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

Baller-Gerold syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

Hypocalcemia, autosomal dominant 1, with bartter syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Hypocalcemia, autosomal dominant 1, with bartter syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Spondylocarpotarsal synostosis syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

LONG QT SYNDROME 14 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the LONG QT SYNDROME 14 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Renal coloboma syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

Menkes kinky-hair syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Menkes kinky-hair syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Legius syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

Joubert syndrome 9 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Joubert syndrome 9 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.

Andermann syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

Stickler syndrome, type 3 Gene Set

From ClinVar Gene-Phenotype Associations

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

Michels syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

Stocco dos Santos syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Stocco dos Santos syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Sotos syndrome 2 Gene Set

From ClinVar Gene-Phenotype Associations

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

Lenz-Majewski hyperostosis syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

Axenfeld-Rieger syndrome type 1 Gene Set

From ClinVar Gene-Phenotype Associations

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

Axenfeld-Rieger syndrome type 3 Gene Set

From ClinVar Gene-Phenotype Associations

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

Lethal congenital contracture syndrome 4 Gene Set

From ClinVar Gene-Phenotype Associations

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

Mitchell-Riley syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

Tietz syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

Prune belly syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

Alagille syndrome 1 Gene Set

From ClinVar Gene-Phenotype Associations

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

Alagille syndrome 2 Gene Set

From ClinVar Gene-Phenotype Associations

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

Mosaic variegated aneuploidy syndrome 2 Gene Set

From ClinVar Gene-Phenotype Associations

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

Christianson syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

Hereditary cancer-predisposing syndrome:Erythrocytosis, familial, 2 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Hereditary cancer-predisposing syndrome:Erythrocytosis, familial, 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Histiocytosis-lymphadenopathy plus syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

Skin fragility woolly hair syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Skin fragility woolly hair syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Loeys-Dietz syndrome 2 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Loeys-Dietz syndrome 2 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.

Spondylocheirodysplasia, Ehlers-Danlos syndrome-like Gene Set

From ClinVar Gene-Phenotype Associations

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

Congenital long QT syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

Three M syndrome 1 Gene Set

From ClinVar Gene-Phenotype Associations

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

Symphalangism-brachydactyly syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

Rhabdoid tumor predisposition syndrome 1 Gene Set

From ClinVar Gene-Phenotype Associations

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

Treacher collins syndrome 2 Gene Set

From ClinVar Gene-Phenotype Associations

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

Stickler syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

Trichorhinophalangeal syndrome type 3 Gene Set

From ClinVar Gene-Phenotype Associations

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

Enlarged vestibular aqueduct syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Enlarged vestibular aqueduct syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Temple-Baraitser syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

Boucher Neuhauser syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

Stuve-Wiedemann syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

Polyendocrine-polyneuropathy syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

Adams-Oliver syndrome 2 Gene Set

From ClinVar Gene-Phenotype Associations

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

Adams-Oliver syndrome 3 Gene Set

From ClinVar Gene-Phenotype Associations

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

Adams-Oliver syndrome 1 Gene Set

From ClinVar Gene-Phenotype Associations

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

Adams-Oliver syndrome 4 Gene Set

From ClinVar Gene-Phenotype Associations

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

Autoimmune lymphoproliferative syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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