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Papillorenal Syndrome With Macular Abnormalities Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Papillorenal Syndrome With Macular Abnormalities in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
abnormalities, multiple; congenital abnormalities; craniofacial abnormalities; syndrome; translocation, genetic Gene SetFrom GAD Gene-Disease Associations genes associated with the disease abnormalities, multiple; congenital abnormalities; craniofacial abnormalities; syndrome; translocation, genetic in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
abnormalities, multiple; craniofacial abnormalities; mouth abnormalities; pallister-hall syndrome; polydactyly; syndactyly Gene SetFrom GAD Gene-Disease Associations genes associated with the disease abnormalities, multiple; craniofacial abnormalities; mouth abnormalities; pallister-hall syndrome; polydactyly; syndactyly in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
abnormalities, multiple; heart defects, congenital; leopard syndrome; noonan syndrome; skin abnormalities Gene SetFrom 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. |
abnormalities, multiple; congenital heart defects; craniofacial abnormalities; ectodermal dysplasia; heart defects, congenital; noonan syndrome; syndrome; turner's phenotype, karyotype normal Gene SetFrom 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. |
meckel-gruber syndrome; abnormalities, multiple; congenital abnormalities; polydactyly; syndrome Gene SetFrom 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. |
Papillorenal syndrome Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Papillorenal syndrome from the curated CTD Gene-Disease Associations dataset. |
papillorenal syndrome Gene SetFrom OMIM Gene-Disease Associations genes associated with the papillorenal syndrome phenotype from the curated OMIM Gene-Disease Associations dataset. |
Papillorenal Syndrome Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Papillorenal Syndrome in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
abnormalities, multiple; craniofacial abnormalities; mental retardation; syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease abnormalities, multiple; craniofacial abnormalities; mental retardation; syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
abnormalities, multiple; craniofacial abnormalities Gene SetFrom GAD Gene-Disease Associations genes associated with the disease abnormalities, multiple; craniofacial abnormalities in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
abnormalities, multiple; aortic aneurysm, thoracic; marfan syndrome; syndrome Gene SetFrom 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. |
abnormalities, multiple; genetic diseases, inborn; kallmann syndrome; syndrome Gene SetFrom 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. |
Nephrotic syndrome, type 5, with or without ocular abnormalities Gene SetFrom 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. |
abnormalities, multiple; arrhythmias, cardiac; autonomic nervous system diseases; death, sudden; hypoventilation; syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease abnormalities, multiple; arrhythmias, cardiac; autonomic nervous system diseases; death, sudden; hypoventilation; syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
craniofacial abnormalities; growth disorders; learning disorders; syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease craniofacial abnormalities; growth disorders; learning disorders; syndrome 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 SetFrom 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. |
abnormalities, multiple; syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease abnormalities, multiple; syndrome 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 SetFrom 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. |
abnormalities, multiple; chromosome breakage; facies; growth disorders; syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease abnormalities, multiple; chromosome breakage; facies; growth disorders; 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 SetFrom 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. |
nephrotic syndrome, type 5, with or without ocular abnormalities Gene SetFrom OMIM Gene-Disease Associations genes associated with the nephrotic syndrome, type 5, with or without ocular abnormalities phenotype from the curated OMIM Gene-Disease Associations dataset. |
Nail And Tooth Abnormalities, Marginal Palmoplantar Keratoderma, Oral Hyperpigmentation Syndrome Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Nail And Tooth Abnormalities, Marginal Palmoplantar Keratoderma, Oral Hyperpigmentation Syndrome in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Pili torti-developmental delay-neurological abnormalities syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Pili torti-developmental delay-neurological abnormalities syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
digeorge syndrome; pharyngeal pouch; syndrome; velo-cardio-facial syndrome; 22q11 deletion syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease digeorge syndrome; pharyngeal pouch; syndrome; velo-cardio-facial syndrome; 22q11 deletion syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
Ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Colobomatous optic disc-macular atrophy-chorioretinopathy syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Colobomatous optic disc-macular atrophy-chorioretinopathy syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Retinal dystrophy with inner retinal dysfunction and ganglion cell abnormalities Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Retinal dystrophy with inner retinal dysfunction and ganglion cell abnormalities phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Cutis laxa with severe pulmonary, gastrointestinal, and urinary abnormalities Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Cutis laxa with severe pulmonary, gastrointestinal, and urinary abnormalities phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Renal tubular acidosis, proximal, with ocular abnormalities and mental retardation Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Renal tubular acidosis, proximal, with ocular abnormalities and mental retardation phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Short stature, auditory canal atresia, mandibular hypoplasia, skeletal abnormalities Gene SetFrom 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. |
Immunodeficiency 26 with or without neurologic abnormalities Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Immunodeficiency 26 with or without neurologic abnormalities phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital Abnormalities Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Congenital Abnormalities from the curated CTD Gene-Disease Associations dataset. |
Skin Abnormalities Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Skin Abnormalities from the curated CTD Gene-Disease Associations dataset. |
Abnormalities, Severe Teratoid Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Abnormalities, Severe Teratoid from the curated CTD Gene-Disease Associations dataset. |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities from the curated CTD Gene-Disease Associations dataset. |
Tooth Abnormalities Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Tooth Abnormalities from the curated CTD Gene-Disease Associations dataset. |
Stomatognathic System Abnormalities Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Stomatognathic System Abnormalities from the curated CTD Gene-Disease Associations dataset. |
Eye Abnormalities Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Eye Abnormalities from the curated CTD Gene-Disease Associations dataset. |
Urogenital Abnormalities Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Urogenital Abnormalities from the curated CTD Gene-Disease Associations dataset. |
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities from the curated CTD Gene-Disease Associations dataset. |
Maxillofacial Abnormalities Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Maxillofacial Abnormalities from the curated CTD Gene-Disease Associations dataset. |
Lymphatic Abnormalities Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Lymphatic Abnormalities from the curated CTD Gene-Disease Associations dataset. |
Jaw Abnormalities Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Jaw Abnormalities from the curated CTD Gene-Disease Associations dataset. |
Respiratory System Abnormalities Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Respiratory System Abnormalities from the curated CTD Gene-Disease Associations dataset. |
Craniofacial Abnormalities Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Craniofacial Abnormalities from the curated CTD Gene-Disease Associations dataset. |
Cardiovascular Abnormalities Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Cardiovascular Abnormalities from the curated CTD Gene-Disease Associations dataset. |
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Mental Retardation Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Mental Retardation from the curated CTD Gene-Disease Associations dataset. |
Mouth Abnormalities Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Mouth Abnormalities from the curated CTD Gene-Disease Associations dataset. |
Abnormalities, Multiple Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Abnormalities, Multiple from the curated CTD Gene-Disease Associations dataset. |
Musculoskeletal Abnormalities Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Musculoskeletal Abnormalities from the curated CTD Gene-Disease Associations dataset. |
Cutis Laxa With Severe Pulmonary, Gastrointestinal, And Urinary Abnormalities Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Cutis Laxa With Severe Pulmonary, Gastrointestinal, And Urinary Abnormalities from the curated CTD Gene-Disease Associations dataset. |
Abnormalities, Drug-Induced Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Abnormalities, Drug-Induced from the curated CTD Gene-Disease Associations dataset. |
Jaw Abnormalities Gene SetFrom dbGAP Gene-Trait Associations genes associated with the trait Jaw Abnormalities in GWAS and other genetic association datasets from the dbGAP Gene-Trait Associations dataset. |
infertility, male; urogenital abnormalities Gene SetFrom GAD Gene-Disease Associations genes associated with the disease infertility, male; urogenital abnormalities in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
cardiovascular abnormalities Gene SetFrom GAD Gene-Disease Associations genes associated with the disease cardiovascular abnormalities in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
thyroid and neurological abnormalities Gene SetFrom GAD Gene-Disease Associations genes associated with the disease thyroid and neurological abnormalities in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
eye abnormalities Gene SetFrom GAD Gene-Disease Associations genes associated with the disease eye abnormalities in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
achondroplasia; musculoskeletal abnormalities; osteochondrodysplasias; thanatophoric dysplasia Gene SetFrom GAD Gene-Disease Associations genes associated with the disease achondroplasia; musculoskeletal abnormalities; osteochondrodysplasias; thanatophoric dysplasia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
anophthalmos; coloboma; eye abnormalities; microphthalmos Gene SetFrom GAD Gene-Disease Associations genes associated with the disease anophthalmos; coloboma; eye abnormalities; microphthalmos in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
abruptio placentae; congenital abnormalities; fetal growth retardation; intrauterine growth retardation; placenta abruptio; pregnancy complications Gene SetFrom GAD Gene-Disease Associations genes associated with the disease abruptio placentae; congenital abnormalities; fetal growth retardation; intrauterine growth retardation; placenta abruptio; pregnancy complications in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
aphakia; eye abnormalities; microphthalmos Gene SetFrom GAD Gene-Disease Associations genes associated with the disease aphakia; eye abnormalities; microphthalmos in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
cleft lip; cleft palate; congenital abnormalities Gene SetFrom GAD Gene-Disease Associations genes associated with the disease cleft lip; cleft palate; congenital abnormalities in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
cardiovascular abnormalities; heart diseases Gene SetFrom GAD Gene-Disease Associations genes associated with the disease cardiovascular abnormalities; heart diseases in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
abnormalities, drug-induced; epilepsy; prenatal exposure delayed effects Gene SetFrom GAD Gene-Disease Associations genes associated with the disease abnormalities, drug-induced; epilepsy; prenatal exposure delayed effects in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
cardiovascular abnormalities; tetralogy of fallot Gene SetFrom GAD Gene-Disease Associations genes associated with the disease cardiovascular abnormalities; tetralogy of fallot in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
congenital abnormalities; Gene SetFrom GAD Gene-Disease Associations genes associated with the disease congenital abnormalities; in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
urogenital abnormalities; vesico-ureteral reflux Gene SetFrom GAD Gene-Disease Associations genes associated with the disease urogenital abnormalities; vesico-ureteral reflux in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
digestive system abnormalities; hirschsprung disease Gene SetFrom GAD Gene-Disease Associations genes associated with the disease digestive system abnormalities; hirschsprung disease in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
cystic fibrosis; urogenital abnormalities Gene SetFrom GAD Gene-Disease Associations genes associated with the disease cystic fibrosis; urogenital abnormalities in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
congenital abnormalities; mental retardation Gene SetFrom GAD Gene-Disease Associations genes associated with the disease congenital abnormalities; mental retardation in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
congenital abnormalities Gene SetFrom GAD Gene-Disease Associations genes associated with the disease congenital abnormalities in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
urogenital abnormalities Gene SetFrom GAD Gene-Disease Associations genes associated with the disease urogenital abnormalities in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
congenital abnormalities; hypothyroidism; thyroid dysgenesis Gene SetFrom GAD Gene-Disease Associations genes associated with the disease congenital abnormalities; hypothyroidism; thyroid dysgenesis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
cleft lip; cleft palate; mouth abnormalities Gene SetFrom GAD Gene-Disease Associations genes associated with the disease cleft lip; cleft palate; mouth abnormalities in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
eye abnormalities; glaucoma, angle-closure Gene SetFrom GAD Gene-Disease Associations genes associated with the disease eye abnormalities; glaucoma, angle-closure in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
jaw abnormalities Gene SetFrom GAD Gene-Disease Associations genes associated with the disease jaw abnormalities in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
cleft lip; cleft palate; tooth abnormalities Gene SetFrom GAD Gene-Disease Associations genes associated with the disease cleft lip; cleft palate; tooth abnormalities in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
abnormalities, drug-induced; cleft lip; cleft palate Gene SetFrom GAD Gene-Disease Associations genes associated with the disease abnormalities, drug-induced; cleft lip; cleft palate in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
abnormalities, multiple; chromosome aberrations; chromosome abnormality; cystic fibrosis; echogenic bowel; fetal diseases Gene SetFrom GAD Gene-Disease Associations genes associated with the disease abnormalities, multiple; chromosome aberrations; chromosome abnormality; cystic fibrosis; echogenic bowel; fetal diseases in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
abnormalities Gene SetFrom GeneRIF Biological Term Annotations genes co-occuring with the biological term abnormalities in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset. |
abnormalities of the peripheral arteries Gene SetFrom GWASdb SNP-Phenotype Associations genes associated with the abnormalities of the peripheral arteries phenotype in GWAS datasets from the GWASdb SNP-Phenotype Associations dataset. |
abnormalities of placenta or umbilical cord Gene SetFrom GWASdb SNP-Phenotype Associations genes associated with the abnormalities of placenta or umbilical cord phenotype in GWAS datasets from the GWASdb SNP-Phenotype Associations dataset. |
erectile abnormalities Gene SetFrom GWASdb SNP-Phenotype Associations genes associated with the erectile abnormalities phenotype in GWAS datasets from the GWASdb SNP-Phenotype Associations dataset. |
erectile abnormalities Gene SetFrom HPO Gene-Disease Associations genes associated with the erectile abnormalities phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
diffuse white matter abnormalities Gene SetFrom HPO Gene-Disease Associations genes associated with the diffuse white matter abnormalities phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
ekg: t-wave abnormalities Gene SetFrom HPO Gene-Disease Associations genes associated with the ekg: t-wave abnormalities phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
peripheral retinal pigmentation abnormalities Gene SetFrom HPO Gene-Disease Associations genes associated with the peripheral retinal pigmentation abnormalities phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
emg: myopathic abnormalities Gene SetFrom HPO Gene-Disease Associations genes associated with the emg: myopathic abnormalities phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
abnormalities of the peripheral arteries Gene SetFrom HPO Gene-Disease Associations genes associated with the abnormalities of the peripheral arteries phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
multifocal cerebral white matter abnormalities Gene SetFrom HPO Gene-Disease Associations genes associated with the multifocal cerebral white matter abnormalities phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
abnormalities of placenta or umbilical cord Gene SetFrom HPO Gene-Disease Associations genes associated with the abnormalities of placenta or umbilical cord phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
vitreoretinal abnormalities Gene SetFrom HPO Gene-Disease Associations genes associated with the vitreoretinal abnormalities phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
white mater abnormalities in the posterior periventricular region Gene SetFrom HPO Gene-Disease Associations genes associated with the white mater abnormalities in the posterior periventricular region phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
Congenital Abnormalities Gene SetFrom HuGE Navigator Gene-Phenotype Associations genes associated with the Congenital Abnormalities phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset. |
Skin Abnormalities Gene SetFrom HuGE Navigator Gene-Phenotype Associations genes associated with the Skin Abnormalities phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset. |
Tooth Abnormalities Gene SetFrom HuGE Navigator Gene-Phenotype Associations genes associated with the Tooth Abnormalities phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset. |
Abnormalities, Multiple Gene SetFrom HuGE Navigator Gene-Phenotype Associations genes associated with the Abnormalities, Multiple phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset. |
Urogenital Abnormalities Gene SetFrom HuGE Navigator Gene-Phenotype Associations genes associated with the Urogenital Abnormalities phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset. |
Abnormalities Gene SetFrom HuGE Navigator Gene-Phenotype Associations genes associated with the Abnormalities phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset. |
Jaw Abnormalities Gene SetFrom HuGE Navigator Gene-Phenotype Associations genes associated with the Jaw Abnormalities phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset. |
Craniofacial Abnormalities Gene SetFrom HuGE Navigator Gene-Phenotype Associations genes associated with the Craniofacial Abnormalities phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset. |
Cardiovascular Abnormalities Gene SetFrom HuGE Navigator Gene-Phenotype Associations genes associated with the Cardiovascular Abnormalities phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset. |
Mouth Abnormalities Gene SetFrom HuGE Navigator Gene-Phenotype Associations genes associated with the Mouth Abnormalities phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset. |
Digestive System Abnormalities Gene SetFrom HuGE Navigator Gene-Phenotype Associations genes associated with the Digestive System Abnormalities phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset. |
Musculoskeletal Abnormalities Gene SetFrom HuGE Navigator Gene-Phenotype Associations genes associated with the Musculoskeletal Abnormalities phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset. |
Abnormalities, Drug-Induced Gene SetFrom HuGE Navigator Gene-Phenotype Associations genes associated with the Abnormalities, Drug-Induced phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset. |
deafness, cataract, retinitis pigmentosa, and sperm abnormalities Gene SetFrom OMIM Gene-Disease Associations genes associated with the deafness, cataract, retinitis pigmentosa, and sperm abnormalities phenotype from the curated OMIM Gene-Disease Associations dataset. |
anemia, x-linked, with/without neutropenia and/or platelet abnormalities Gene SetFrom OMIM Gene-Disease Associations genes associated with the anemia, x-linked, with/without neutropenia and/or platelet abnormalities phenotype from the curated OMIM Gene-Disease Associations dataset. |
short stature, auditory canal atresia, mandibular hypoplasia, skeletal abnormalities Gene SetFrom 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. |
primary aldosteronism, seizures, and neurologic abnormalities Gene SetFrom OMIM Gene-Disease Associations genes associated with the primary aldosteronism, seizures, and neurologic abnormalities phenotype from the curated OMIM Gene-Disease Associations dataset. |
optic nerve hypoplasia and abnormalities of the central nervous system Gene SetFrom OMIM Gene-Disease Associations genes associated with the optic nerve hypoplasia and abnormalities of the central nervous system phenotype from the curated OMIM Gene-Disease Associations dataset. |
renal tubular acidosis, proximal, with ocular abnormalities Gene SetFrom OMIM Gene-Disease Associations genes associated with the renal tubular acidosis, proximal, with ocular abnormalities phenotype from the curated OMIM Gene-Disease Associations dataset. |
?retinal dystrophy with inner retinal dysfunction and ganglion cell abnormalities Gene SetFrom OMIM Gene-Disease Associations genes associated with the ?retinal dystrophy with inner retinal dysfunction and ganglion cell abnormalities phenotype from the curated OMIM Gene-Disease Associations dataset. |
immunodeficiency 16, with or without neurologic abnormalities Gene SetFrom OMIM Gene-Disease Associations genes associated with the immunodeficiency 16, with or without neurologic abnormalities phenotype from the curated OMIM Gene-Disease Associations dataset. |
Mitochondrial Abnormalities Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Mitochondrial Abnormalities in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Erectile Abnormalities Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Erectile Abnormalities in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Placental Abnormalities (Excl Neoplasms) Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Placental Abnormalities (Excl Neoplasms) in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Conduction System Abnormalities Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Conduction System Abnormalities in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Platelet Abnormalities With Eosinophilia And Immune-Mediated Inflammatory Disease Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Platelet Abnormalities With Eosinophilia And Immune-Mediated Inflammatory Disease in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Diffuse White Matter Abnormalities Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Diffuse White Matter Abnormalities in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Primary Aldosteronism, Seizures, And Neurologic Abnormalities Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Primary Aldosteronism, Seizures, And Neurologic Abnormalities in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Maxillofacial Abnormalities Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Maxillofacial Abnormalities in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Neural Tube--Abnormalities Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Neural Tube--Abnormalities in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Abnormalities Of Placenta Or Umbilical Cord Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Abnormalities Of Placenta Or Umbilical Cord in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Emg: Myopathic Abnormalities Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Emg: Myopathic Abnormalities in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Multifocal Cerebral White Matter Abnormalities Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Multifocal Cerebral White Matter Abnormalities in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Respiratory Abnormalities Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Respiratory Abnormalities in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Renal Abnormalities Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Renal Abnormalities in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Rib Segmentation Abnormalities Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Rib Segmentation Abnormalities in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Speech And Language Abnormalities Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Speech And Language Abnormalities in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Pili Torti Developmental Delay Neurological Abnormalities Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Pili Torti Developmental Delay Neurological Abnormalities in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
White Mater Abnormalities In The Posterior Periventricular Region Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype White Mater Abnormalities In The Posterior Periventricular Region in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Microcephalic Osteodysplastic Primordial Dwarfism With Tooth Abnormalities Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Microcephalic Osteodysplastic Primordial Dwarfism With Tooth Abnormalities in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Structural Brain Abnormalities Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Structural Brain Abnormalities in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Defective SLC4A4 causes renal tubular acidosis, proximal, with ocular abnormalities and mental retardation (pRTA-OA) Gene Setproteins participating in the Defective SLC4A4 causes renal tubular acidosis, proximal, with ocular abnormalities and mental retardation (pRTA-OA) pathway from the Reactome Pathways 2024 dataset. |
Myeloid and lymphoid neoplasms with eosinophilia and abnormalities of PDGFRA, PDGFRB, and FGFR1 Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Myeloid and lymphoid neoplasms with eosinophilia and abnormalities of PDGFRA, PDGFRB, and FGFR1 from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. |
microcephaly, short stature, and limb abnormalities Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease microcephaly, short stature, and limb abnormalities in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Developmental delay and seizures with or without movement abnormalities Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Developmental delay and seizures with or without movement abnormalities in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Intellectual developmental disorder with short stature and behavioral abnormalities Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Intellectual developmental disorder with short stature and behavioral abnormalities in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
childhood-onset dystonia with optic atrophy and basal ganglia abnormalities Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease childhood-onset dystonia with optic atrophy and basal ganglia abnormalities in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Neurodevelopmental disorder with eye movement abnormalities and ataxia Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Neurodevelopmental disorder with eye movement abnormalities and ataxia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Myeloid and lymphoid neoplasms with eosinophilia and abnormalities of PDGFRA, PDGFRB, and FGFR1 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Myeloid and lymphoid neoplasms with eosinophilia and abnormalities of PDGFRA, PDGFRB, and FGFR1 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Myeloid and lymphoid neoplasms associated with FGFR1 abnormalities Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Myeloid and lymphoid neoplasms associated with FGFR1 abnormalities in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Inflammatory poikiloderma with hair abnormalities and acral keratoses Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Inflammatory poikiloderma with hair abnormalities and acral keratoses in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Neurodevelopmental disorder with brain abnormalities, poor growth, and dysmorphic facies Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Neurodevelopmental disorder with brain abnormalities, poor growth, and dysmorphic facies in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Optic nerve hypoplasia and abnormalities of the central nervous system Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Optic nerve hypoplasia and abnormalities of the central nervous system phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
EMG: myopathic abnormalities Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the EMG: myopathic abnormalities phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Brain abnormalities Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Brain abnormalities phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
PITX2-Related Eye Abnormalities Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the PITX2-Related Eye Abnormalities phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Platelet abnormalities Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Platelet abnormalities phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Inclusion body myopathy and brain white matter abnormalities Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Inclusion body myopathy and brain white matter abnormalities phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Subpleural-predominant interstitial lung abnormalities Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Subpleural-predominant interstitial lung abnormalities phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Interstitial lung abnormalities Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Interstitial lung abnormalities phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Lynch syndrome:Lynch syndrome:Lynch syndrome Gene SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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. |
Macular dystrophy, vitelliform, 5 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Macular dystrophy, vitelliform, 5 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
MACULAR CORNEAL DYSTROPHY, TYPE II Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the MACULAR CORNEAL DYSTROPHY, TYPE II phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Occult macular dystrophy Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Occult macular dystrophy phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Macular corneal dystrophy Type I Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Macular corneal dystrophy Type I phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Macular degeneration, early-onset Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Macular degeneration, early-onset phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Juvenile macular degeneration and hypotrichosis Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Juvenile macular degeneration and hypotrichosis phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Age-related macular degeneration 6 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Age-related macular degeneration 6 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Age-related macular degeneration 3 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Age-related macular degeneration 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Age-related macular degeneration 11 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Age-related macular degeneration 11 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Age-related macular degeneration 14 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Age-related macular degeneration 14 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Macular dystrophy, vitelliform, 4 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Macular dystrophy, vitelliform, 4 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Macular Degeneration, Age-Related, 11 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Macular Degeneration, Age-Related, 11 from the curated CTD Gene-Disease Associations dataset. |
Macular Degeneration Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Macular Degeneration from the curated CTD Gene-Disease Associations dataset. |
Macular Degeneration, Age-Related, 10 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Macular Degeneration, Age-Related, 10 from the curated CTD Gene-Disease Associations dataset. |
Macular dystrophy, retinal, 1, North Carolina type Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Macular dystrophy, retinal, 1, North Carolina type from the curated CTD Gene-Disease Associations dataset. |
Macular dystrophy, atypical vitelliform Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Macular dystrophy, atypical vitelliform from the curated CTD Gene-Disease Associations dataset. |
Macular dystrophy, concentric annular Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Macular dystrophy, concentric annular from the curated CTD Gene-Disease Associations dataset. |
Macular Dystrophy, Retinal, 2 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Macular Dystrophy, Retinal, 2 from the curated CTD Gene-Disease Associations dataset. |
Bullous Dystrophy, Hereditary Macular Type Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Bullous Dystrophy, Hereditary Macular Type from the curated CTD Gene-Disease Associations dataset. |
Macular Degeneration, Age-Related, 9 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Macular Degeneration, Age-Related, 9 from the curated CTD Gene-Disease Associations dataset. |
Macular Degeneration, Age-Related, 3 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Macular Degeneration, Age-Related, 3 from the curated CTD Gene-Disease Associations dataset. |
Macular Degeneration, Age-Related, 2 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Macular Degeneration, Age-Related, 2 from the curated CTD Gene-Disease Associations dataset. |
Macular Degeneration, Age-Related, 1 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Macular Degeneration, Age-Related, 1 from the curated CTD Gene-Disease Associations dataset. |
Macular Degeneration, Age-Related, 7 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Macular Degeneration, Age-Related, 7 from the curated CTD Gene-Disease Associations dataset. |
MACULAR DYSTROPHY, RETINAL, 3 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease MACULAR DYSTROPHY, RETINAL, 3 from the curated CTD Gene-Disease Associations dataset. |
OCCULT MACULAR DYSTROPHY Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease OCCULT MACULAR DYSTROPHY from the curated CTD Gene-Disease Associations dataset. |
Macular Degeneration, Age-Related, 4 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Macular Degeneration, Age-Related, 4 from the curated CTD Gene-Disease Associations dataset. |
Juvenile macular degeneration and hypotrichosis Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Juvenile macular degeneration and hypotrichosis from the curated CTD Gene-Disease Associations dataset. |
Vitelliform Macular Dystrophy Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Vitelliform Macular Dystrophy from the curated CTD Gene-Disease Associations dataset. |
Ectodermal dysplasia, ectrodactyly, and macular dystrophy Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Ectodermal dysplasia, ectrodactyly, and macular dystrophy from the curated CTD Gene-Disease Associations dataset. |
Hereditary macular coloboma Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Hereditary macular coloboma from the curated CTD Gene-Disease Associations dataset. |
Macular Edema Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Macular Edema from the curated CTD Gene-Disease Associations dataset. |
Macular dystrophy, corneal type 1 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Macular dystrophy, corneal type 1 from the curated CTD Gene-Disease Associations dataset. |
Macular Degeneration Gene SetFrom dbGAP Gene-Trait Associations genes associated with the trait Macular Degeneration in GWAS and other genetic association datasets from the dbGAP Gene-Trait Associations dataset. |
macular degeneration Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores genes involed in the disease macular degeneration from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset. |
age related macular degeneration Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores genes involed in the disease age related macular degeneration from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset. |
vitelliform macular dystrophy Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores genes involed in the disease vitelliform macular dystrophy from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset. |
macular degeneration Gene SetFrom DISEASES Experimental Gene-Disease Association Evidence Scores genes associated with the disease macular degeneration in GWAS datasets from the DISEASES Experimental Gene-Disease Assocation Evidence Scores dataset. |
macular degeneration Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease macular degeneration in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
vitelliform macular dystrophy Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease vitelliform macular dystrophy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
cystoid macular edema Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease cystoid macular edema in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
macular retinal edema Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease macular retinal edema in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
macular holes Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease macular holes in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
occult macular dystrophy Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease occult macular dystrophy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
diabetic macular edema Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease diabetic macular edema in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
age related macular degeneration Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease age related macular degeneration in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
macular corneal dystrophy Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease macular corneal dystrophy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
cardiovascular diseases; macular degeneration Gene SetFrom GAD Gene-Disease Associations genes associated with the disease cardiovascular diseases; macular degeneration in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
choroidal neovascularization; geographic atrophy; macular degeneration Gene SetFrom GAD Gene-Disease Associations genes associated with the disease choroidal neovascularization; geographic atrophy; macular degeneration in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
choroiditis; macular degeneration Gene SetFrom GAD Gene-Disease Associations genes associated with the disease choroiditis; macular degeneration in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
macular degeneration; nephritis, hereditary; retinal degeneration; retinal drusen Gene SetFrom GAD Gene-Disease Associations genes associated with the disease macular degeneration; nephritis, hereditary; retinal degeneration; retinal drusen in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
chlamydia infections; macular degeneration Gene SetFrom GAD Gene-Disease Associations genes associated with the disease chlamydia infections; macular degeneration in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
macular degeneration; stargardt disease Gene SetFrom GAD Gene-Disease Associations genes associated with the disease macular degeneration; stargardt disease in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
geographic atrophy; macular degeneration Gene SetFrom GAD Gene-Disease Associations genes associated with the disease geographic atrophy; macular degeneration in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
eye diseases, hereditary; macular degeneration; retinal degeneration Gene SetFrom GAD Gene-Disease Associations genes associated with the disease eye diseases, hereditary; macular degeneration; retinal degeneration in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
choroidal neovascularization; macular degeneration; peripheral vascular diseases Gene SetFrom GAD Gene-Disease Associations genes associated with the disease choroidal neovascularization; macular degeneration; peripheral vascular diseases in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
age-related macular degeneration (wet) Gene SetFrom GAD Gene-Disease Associations genes associated with the disease age-related macular degeneration (wet) in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
wet macular degeneration Gene SetFrom GAD Gene-Disease Associations genes associated with the disease wet macular degeneration in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
autosomal dominant macular degeneration Gene SetFrom GAD Gene-Disease Associations genes associated with the disease autosomal dominant macular degeneration in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
blind vision; blindness; choroidal neovascularization; macular degeneration Gene SetFrom GAD Gene-Disease Associations genes associated with the disease blind vision; blindness; choroidal neovascularization; macular degeneration in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
geographic atrophy; macular degeneration; retinal drusen Gene SetFrom GAD Gene-Disease Associations genes associated with the disease geographic atrophy; macular degeneration; retinal drusen in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
macular degeneration, age-related Gene SetFrom GAD Gene-Disease Associations genes associated with the disease macular degeneration, age-related in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
familial age-related macular degeneration Gene SetFrom GAD Gene-Disease Associations genes associated with the disease familial age-related macular degeneration in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
macular corneal dystrophy. Gene SetFrom GAD Gene-Disease Associations genes associated with the disease macular corneal dystrophy. in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
choroid diseases; macular degeneration; peripheral vascular diseases; retinal neovascularization Gene SetFrom GAD Gene-Disease Associations genes associated with the disease choroid diseases; macular degeneration; peripheral vascular diseases; retinal neovascularization in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
choroidal neovascularization; macular degeneration; retinal drusen Gene SetFrom GAD Gene-Disease Associations genes associated with the disease choroidal neovascularization; macular degeneration; retinal drusen in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
retinitis pigmentosa; macular dystrophy Gene SetFrom GAD Gene-Disease Associations genes associated with the disease retinitis pigmentosa; macular dystrophy in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
macular degeneration; neovascularization, pathologic Gene SetFrom GAD Gene-Disease Associations genes associated with the disease macular degeneration; neovascularization, pathologic in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
macular degeneration Gene SetFrom GAD Gene-Disease Associations genes associated with the disease macular degeneration in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
angiomatosis; choroidal neovascularization; macular degeneration Gene SetFrom GAD Gene-Disease Associations genes associated with the disease angiomatosis; choroidal neovascularization; macular degeneration in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
macular degeneration; vision, low Gene SetFrom GAD Gene-Disease Associations genes associated with the disease macular degeneration; vision, low in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
macular degeneration; soft drusen Gene SetFrom GAD Gene-Disease Associations genes associated with the disease macular degeneration; soft drusen in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
atherosclerosis; hypertension; macular degeneration; prostatic neoplasms Gene SetFrom GAD Gene-Disease Associations genes associated with the disease atherosclerosis; hypertension; macular degeneration; prostatic neoplasms in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
atherosclerosis; inflammation; macular degeneration Gene SetFrom GAD Gene-Disease Associations genes associated with the disease atherosclerosis; inflammation; macular degeneration in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
macular edema Gene SetFrom GAD Gene-Disease Associations genes associated with the disease macular edema in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
choroid diseases; macular degeneration; peripheral vascular diseases Gene SetFrom GAD Gene-Disease Associations genes associated with the disease choroid diseases; macular degeneration; peripheral vascular diseases in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
myocardial infarct; cholesterol, hdl; triglycerides; atherosclerosis, coronary; macular degeneration; colorectal cancer Gene SetFrom GAD Gene-Disease Associations genes associated with the disease myocardial infarct; cholesterol, hdl; triglycerides; atherosclerosis, coronary; macular degeneration; colorectal cancer in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
atrophy; choroidal neovascularization; macular degeneration Gene SetFrom GAD Gene-Disease Associations genes associated with the disease atrophy; choroidal neovascularization; macular degeneration in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
cataract; macular degeneration Gene SetFrom GAD Gene-Disease Associations genes associated with the disease cataract; macular degeneration in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
dna damage; macular degeneration Gene SetFrom GAD Gene-Disease Associations genes associated with the disease dna damage; macular degeneration in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
choroidal neovascularization; macular degeneration Gene SetFrom GAD Gene-Disease Associations genes associated with the disease choroidal neovascularization; macular degeneration in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
age-related macular degeneration Gene SetFrom GAD Gene-Disease Associations genes associated with the disease age-related macular degeneration in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
choroid diseases; macular degeneration Gene SetFrom GAD Gene-Disease Associations genes associated with the disease choroid diseases; macular degeneration in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
cardiovascular diseases; inflammation; macular degeneration Gene SetFrom GAD Gene-Disease Associations genes associated with the disease cardiovascular diseases; inflammation; macular degeneration in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
macular degeneration; peripheral vascular diseases Gene SetFrom GAD Gene-Disease Associations genes associated with the disease macular degeneration; peripheral vascular diseases in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
retinopathy, diabetic; macular edema Gene SetFrom GAD Gene-Disease Associations genes associated with the disease retinopathy, diabetic; macular edema in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
diseases in twins; macular degeneration; retinal drusen Gene SetFrom GAD Gene-Disease Associations genes associated with the disease diseases in twins; macular degeneration; retinal drusen in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
chlamydophila infections; macular degeneration Gene SetFrom GAD Gene-Disease Associations genes associated with the disease chlamydophila infections; macular degeneration in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
diabetes mellitus, type 2; inflammatory bowel diseases; macular degeneration; prostatic neoplasms Gene SetFrom GAD Gene-Disease Associations genes associated with the disease diabetes mellitus, type 2; inflammatory bowel diseases; macular degeneration; prostatic neoplasms in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
macular corneal dystrophy Gene SetFrom GAD Gene-Disease Associations genes associated with the disease macular corneal dystrophy in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
alzheimer disease; cardiovascular diseases; colorectal neoplasms; macular degeneration Gene SetFrom GAD Gene-Disease Associations genes associated with the disease alzheimer disease; cardiovascular diseases; colorectal neoplasms; macular degeneration in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
choroidal neovascularization; retinal drusen; wet macular degeneration Gene SetFrom GAD Gene-Disease Associations genes associated with the disease choroidal neovascularization; retinal drusen; wet macular degeneration in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
choroid diseases; choroidal neovascularization; macular degeneration; peripheral vascular diseases Gene SetFrom GAD Gene-Disease Associations genes associated with the disease choroid diseases; choroidal neovascularization; macular degeneration; peripheral vascular diseases in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
macular Gene SetFrom GeneRIF Biological Term Annotations genes co-occuring with the biological term macular in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset. |
Macular degeneration_Fibroblast_GSE1719 Gene SetFrom GEO Signatures of Differentially Expressed Genes for Diseases genes differentially expressed during Macular degeneration_Fibroblast_GSE1719 disease perturbation from the GEO Signatures of Differentially Expressed Genes for Diseases dataset. |
Age-related macular degeneration (CNV vs. GA) Gene SetFrom GWAS Catalog SNP-Phenotype Associations genes associated with the Age-related macular degeneration (CNV vs. GA) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations dataset. |
Age-related macular degeneration (GA) Gene SetFrom GWAS Catalog SNP-Phenotype Associations genes associated with the Age-related macular degeneration (GA) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations dataset. |
Age-related macular degeneration (CNV) Gene SetFrom GWAS Catalog SNP-Phenotype Associations genes associated with the Age-related macular degeneration (CNV) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations dataset. |
Age-related macular degeneration (wet) Gene SetFrom GWAS Catalog SNP-Phenotype Associations genes associated with the Age-related macular degeneration (wet) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations dataset. |
Age-related macular degeneration (extreme sampling) Gene SetFrom GWAS Catalog SNP-Phenotype Associations genes associated with the Age-related macular degeneration (extreme sampling) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations dataset. |
Age-related macular degeneration Gene SetFrom GWAS Catalog SNP-Phenotype Associations genes associated with the Age-related macular degeneration phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations dataset. |
macular degeneration Gene SetFrom GWASdb SNP-Disease Associations genes associated with the disease macular degeneration in GWAS and other genetic association datasets from the GWASdb SNP-Disease Associations dataset. |
age related macular degeneration Gene SetFrom GWASdb SNP-Disease Associations genes associated with the disease age related macular degeneration in GWAS and other genetic association datasets from the GWASdb SNP-Disease Associations dataset. |
age-related macular degeneration Gene SetFrom GWASdb SNP-Phenotype Associations genes associated with the age-related macular degeneration phenotype in GWAS datasets from the GWASdb SNP-Phenotype Associations dataset. |
macular degeneration Gene SetFrom GWASdb SNP-Phenotype Associations genes associated with the macular degeneration phenotype in GWAS datasets from the GWASdb SNP-Phenotype Associations dataset. |
macular hyperpigmentation Gene SetFrom HPO Gene-Disease Associations genes associated with the macular hyperpigmentation phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
macular coloboma Gene SetFrom HPO Gene-Disease Associations genes associated with the macular coloboma phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
linear arrays of macular hyperkeratoses in flexural areas Gene SetFrom HPO Gene-Disease Associations genes associated with the linear arrays of macular hyperkeratoses in flexural areas phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
cystoid macular degeneration Gene SetFrom HPO Gene-Disease Associations genes associated with the cystoid macular degeneration phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
macular hypoplasia Gene SetFrom HPO Gene-Disease Associations genes associated with the macular hypoplasia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
macular degeneration Gene SetFrom HPO Gene-Disease Associations genes associated with the macular degeneration phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
macular edema Gene SetFrom HPO Gene-Disease Associations genes associated with the macular edema phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
macular dystrophy Gene SetFrom HPO Gene-Disease Associations genes associated with the macular dystrophy phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
macular flecks Gene SetFrom HPO Gene-Disease Associations genes associated with the macular flecks phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
macular retinal pigment epithelial mottling Gene SetFrom HPO Gene-Disease Associations genes associated with the macular retinal pigment epithelial mottling phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
age-related macular degeneration Gene SetFrom HPO Gene-Disease Associations genes associated with the age-related macular degeneration phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
cystoid macular edema Gene SetFrom HPO Gene-Disease Associations genes associated with the cystoid macular edema phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
noninflammatory macular atrophy Gene SetFrom HPO Gene-Disease Associations genes associated with the noninflammatory macular atrophy phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
progressive macular scarring Gene SetFrom HPO Gene-Disease Associations genes associated with the progressive macular scarring phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
abnormality of macular pigmentation Gene SetFrom HPO Gene-Disease Associations genes associated with the abnormality of macular pigmentation phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
macular scarring Gene SetFrom HPO Gene-Disease Associations genes associated with the macular scarring phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
Macular Degeneration Gene SetFrom HuGE Navigator Gene-Phenotype Associations genes associated with the Macular Degeneration phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset. |
Wet Macular Degeneration Gene SetFrom HuGE Navigator Gene-Phenotype Associations genes associated with the Wet Macular Degeneration phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset. |
Vitelliform Macular Dystrophy Gene SetFrom HuGE Navigator Gene-Phenotype Associations genes associated with the Vitelliform Macular Dystrophy phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset. |
Macular Edema Gene SetFrom HuGE Navigator Gene-Phenotype Associations genes associated with the Macular Edema phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset. |
Macular Edema, Cystoid Gene SetFrom HuGE Navigator Gene-Phenotype Associations genes associated with the Macular Edema, Cystoid phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset. |
utricular macular degeneration Gene SetFrom MPO Gene-Phenotype Associations gene mutations causing the utricular macular degeneration phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset. |
macular degeneration, early-onset Gene SetFrom OMIM Gene-Disease Associations genes associated with the macular degeneration, early-onset phenotype from the curated OMIM Gene-Disease Associations dataset. |
occult macular dystrophy Gene SetFrom OMIM Gene-Disease Associations genes associated with the occult macular dystrophy phenotype from the curated OMIM Gene-Disease Associations dataset. |
macular degeneration, age-related, 15, suscepbitility to Gene SetFrom OMIM Gene-Disease Associations genes associated with the macular degeneration, age-related, 15, suscepbitility to phenotype from the curated OMIM Gene-Disease Associations dataset. |
{macular degeneration, age-related, 14, reduced risk of} Gene SetFrom OMIM Gene-Disease Associations genes associated with the {macular degeneration, age-related, 14, reduced risk of} phenotype from the curated OMIM Gene-Disease Associations dataset. |
ectodermal dysplasia, ectrodactyly, and macular dystrophy Gene SetFrom OMIM Gene-Disease Associations genes associated with the ectodermal dysplasia, ectrodactyly, and macular dystrophy phenotype from the curated OMIM Gene-Disease Associations dataset. |
macular dystrophy, retinal, 3 Gene SetFrom OMIM Gene-Disease Associations genes associated with the macular dystrophy, retinal, 3 phenotype from the curated OMIM Gene-Disease Associations dataset. |
macular dystrophy, retinal, 2 Gene SetFrom OMIM Gene-Disease Associations genes associated with the macular dystrophy, retinal, 2 phenotype from the curated OMIM Gene-Disease Associations dataset. |
{macular degeneration, age-related, neovascular type} Gene SetFrom OMIM Gene-Disease Associations genes associated with the {macular degeneration, age-related, neovascular type} phenotype from the curated OMIM Gene-Disease Associations dataset. |
{macular degeneration, age-related, 2} Gene SetFrom OMIM Gene-Disease Associations genes associated with the {macular degeneration, age-related, 2} phenotype from the curated OMIM Gene-Disease Associations dataset. |
{macular degeneration, age-related, 4} Gene SetFrom OMIM Gene-Disease Associations genes associated with the {macular degeneration, age-related, 4} phenotype from the curated OMIM Gene-Disease Associations dataset. |
hypotrichosis, congenital, with juvenile macular dystrophy Gene SetFrom OMIM Gene-Disease Associations genes associated with the hypotrichosis, congenital, with juvenile macular dystrophy phenotype from the curated OMIM Gene-Disease Associations dataset. |
{macular degeneration, age-related, 12} Gene SetFrom OMIM Gene-Disease Associations genes associated with the {macular degeneration, age-related, 12} phenotype from the curated OMIM Gene-Disease Associations dataset. |
{macular degeneration, age-related, susceptibility to 5} Gene SetFrom OMIM Gene-Disease Associations genes associated with the {macular degeneration, age-related, susceptibility to 5} phenotype from the curated OMIM Gene-Disease Associations dataset. |
{macular degeneration, age-related, 10} Gene SetFrom OMIM Gene-Disease Associations genes associated with the {macular degeneration, age-related, 10} phenotype from the curated OMIM Gene-Disease Associations dataset. |
macular dystrophy, north carolina type Gene SetFrom OMIM Gene-Disease Associations genes associated with the macular dystrophy, north carolina type phenotype from the curated OMIM Gene-Disease Associations dataset. |
{macular degeneration, age-related, 8} Gene SetFrom OMIM Gene-Disease Associations genes associated with the {macular degeneration, age-related, 8} phenotype from the curated OMIM Gene-Disease Associations dataset. |
macular dystrophy, patterned, 1 Gene SetFrom OMIM Gene-Disease Associations genes associated with the macular dystrophy, patterned, 1 phenotype from the curated OMIM Gene-Disease Associations dataset. |
macular dystrophy with central cone involvement Gene SetFrom OMIM Gene-Disease Associations genes associated with the macular dystrophy with central cone involvement phenotype from the curated OMIM Gene-Disease Associations dataset. |
{macular degeneration, age-related, reduced risk of} Gene SetFrom OMIM Gene-Disease Associations genes associated with the {macular degeneration, age-related, reduced risk of} phenotype from the curated OMIM Gene-Disease Associations dataset. |
{?macular degeneration, age-related} Gene SetFrom OMIM Gene-Disease Associations genes associated with the {?macular degeneration, age-related} phenotype from the curated OMIM Gene-Disease Associations dataset. |
macular degeneration, age-related, 11 Gene SetFrom OMIM Gene-Disease Associations genes associated with the macular degeneration, age-related, 11 phenotype from the curated OMIM Gene-Disease Associations dataset. |
macular degeneration, age-related, 3 Gene SetFrom OMIM Gene-Disease Associations genes associated with the macular degeneration, age-related, 3 phenotype from the curated OMIM Gene-Disease Associations dataset. |
macular degeneration, age-related, 6 Gene SetFrom OMIM Gene-Disease Associations genes associated with the macular degeneration, age-related, 6 phenotype from the curated OMIM Gene-Disease Associations dataset. |
macular degeneration, juvenile Gene SetFrom OMIM Gene-Disease Associations genes associated with the macular degeneration, juvenile phenotype from the curated OMIM Gene-Disease Associations dataset. |
macular degeneration, x-linked atrophic Gene SetFrom OMIM Gene-Disease Associations genes associated with the macular degeneration, x-linked atrophic phenotype from the curated OMIM Gene-Disease Associations dataset. |
vitelliform macular dystrophy 2 Gene SetFrom OMIM Gene-Disease Associations genes associated with the vitelliform macular dystrophy 2 phenotype from the curated OMIM Gene-Disease Associations dataset. |
{macular degeneration, age-related, 1} Gene SetFrom OMIM Gene-Disease Associations genes associated with the {macular degeneration, age-related, 1} phenotype from the curated OMIM Gene-Disease Associations dataset. |
macular corneal dystrophy Gene SetFrom OMIM Gene-Disease Associations genes associated with the macular corneal dystrophy phenotype from the curated OMIM Gene-Disease Associations dataset. |
{macular degeneration, age-related, 7} Gene SetFrom OMIM Gene-Disease Associations genes associated with the {macular degeneration, age-related, 7} phenotype from the curated OMIM Gene-Disease Associations dataset. |
{macular degeneration, age-related, 13, susceptibility to} Gene SetFrom OMIM Gene-Disease Associations genes associated with the {macular degeneration, age-related, 13, susceptibility to} phenotype from the curated OMIM Gene-Disease Associations dataset. |
{macular degeneration, age-related, 9} Gene SetFrom OMIM Gene-Disease Associations genes associated with the {macular degeneration, age-related, 9} phenotype from the curated OMIM Gene-Disease Associations dataset. |
macular dystrophy, vitelliform, 5 Gene SetFrom OMIM Gene-Disease Associations genes associated with the macular dystrophy, vitelliform, 5 phenotype from the curated OMIM Gene-Disease Associations dataset. |
macular dystrophy, vitelliform, 4 Gene SetFrom OMIM Gene-Disease Associations genes associated with the macular dystrophy, vitelliform, 4 phenotype from the curated OMIM Gene-Disease Associations dataset. |
macular dystrophy, vitelliform, 3 Gene SetFrom OMIM Gene-Disease Associations genes associated with the macular dystrophy, vitelliform, 3 phenotype from the curated OMIM Gene-Disease Associations dataset. |
Age Related Macular Degeneration Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Age Related Macular Degeneration in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Exudative Age-Related Macular Degeneration Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Exudative Age-Related Macular Degeneration in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Exudative Macular Degeneration Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Exudative Macular Degeneration in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Abnormality Of Macular Pigmentation Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Abnormality Of Macular Pigmentation in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Hereditary Macular Dystrophy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Hereditary Macular Dystrophy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Juvenile Macular Degeneration Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Juvenile Macular Degeneration in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Macular Degeneration Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Macular Degeneration in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Macular Dystrophy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Macular Dystrophy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
North Carolina Macular Dystrophy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease North Carolina Macular Dystrophy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Vitelliform Macular Dystrophy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Vitelliform Macular Dystrophy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Hereditary Macular Coloboma Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Hereditary Macular Coloboma in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Macular Edema, Cystoid Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Macular Edema, Cystoid in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Wet Age-Related Macular Degeneration Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Wet Age-Related Macular Degeneration in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Macular Fibrosis Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Macular Fibrosis in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Macular Holes Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Macular Holes in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Macular Retinal Edema Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Macular Retinal Edema in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Adult-Onset Vitelliform Macular Dystrophy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Adult-Onset Vitelliform Macular Dystrophy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Best Vitelliform Macular Dystrophy, Multifocal (Disorder) Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Best Vitelliform Macular Dystrophy, Multifocal (Disorder) in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Cystoid Macular Retinal Degeneration Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Cystoid Macular Retinal Degeneration in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Juvenile-Onset Vitelliform Macular Dystrophy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Juvenile-Onset Vitelliform Macular Dystrophy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Optic Disc Anomalies With Retinal And/Or Macular Dystrophy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Retinal Dystrophy With Early Macular Involvement Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Retinal Dystrophy With Early Macular Involvement in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Nonexudative Age-Related Macular Degeneration Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Nonexudative Age-Related Macular Degeneration in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Macular Corneal Dystrophy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Macular Corneal Dystrophy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Macular Corneal Dystrophy Type Ii (Disorder) Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Macular Corneal Dystrophy Type Ii (Disorder) in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Benign Concentric Annular Macular Dystrophy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Benign Concentric Annular Macular Dystrophy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Age-Related Macular Degeneration Type 11 Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Age-Related Macular Degeneration Type 11 in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Butterfly-Shaped Pigmentary Macular Dystrophy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Butterfly-Shaped Pigmentary Macular Dystrophy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Macular Dystrophy, Butterfly-Shaped Pigmentary, 2 Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Macular Dystrophy, Butterfly-Shaped Pigmentary, 2 in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Occult Macular Dystrophy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Occult Macular Dystrophy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Lamellar Macular Hole Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Lamellar Macular Hole in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Myopic Macular Degeneration Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Myopic Macular Degeneration in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Macular Hyperpigmentation Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Macular Hyperpigmentation in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Clinically Significant Macular Edema Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Clinically Significant Macular Edema in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Macular Cutaneous Amyloidosis Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Macular Cutaneous Amyloidosis in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Macular Amyloidosis Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Macular Amyloidosis in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Macular Pseudohole Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Macular Pseudohole in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Macular Schisis Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Macular Schisis in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Bull'S Eye Macular Dystrophy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Bull'S Eye Macular Dystrophy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Macular Degeneration Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Macular Degeneration in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Macular Dystrophy Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Macular Dystrophy in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Macular Hyperpigmentation Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Macular Hyperpigmentation in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Macular Hypopigmentation Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Macular Hypopigmentation in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Atrophic Macular Change Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Atrophic Macular Change in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Macular Drusen Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Macular Drusen in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Granular Macular Appearance Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Granular Macular Appearance in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Dry Age-Related Macular Degeneration Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Dry Age-Related Macular Degeneration in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Vitelliform-Like Macular Lesions Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Vitelliform-Like Macular Lesions in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Beaten Bronze Macular Sheen Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Beaten Bronze Macular Sheen in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Hyperautofluorescent Macular Lesion Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Hyperautofluorescent Macular Lesion in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Abnormal Macular Morphology Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Abnormal Macular Morphology in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Macular Hypoplasia Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Macular Hypoplasia in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Macular Flecks Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Macular Flecks in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Foveal Photoreceptor Outer Segment Loss On Macular Oct Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Foveal Photoreceptor Outer Segment Loss On Macular Oct in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Photoreceptor Layer Loss On Macular Oct Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Photoreceptor Layer Loss On Macular Oct in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Macular Detachment Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Macular Detachment in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Linear Arrays Of Macular Hyperkeratoses In Flexural Areas Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Linear Arrays Of Macular Hyperkeratoses In Flexural Areas in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Hyporeflective Spaces On Macular Oct Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Hyporeflective Spaces On Macular Oct in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Abnormal Foveal Morphology On Macular Oct Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Abnormal Foveal Morphology On Macular Oct in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
utricular macular degeneration Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the utricular macular degeneration phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
retina macular degeneration Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the retina macular degeneration phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
Age related macular degeneration Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Age related macular degeneration from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. |
Macular degeneration Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Macular degeneration from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. |
Vitelliform macular dystrophy Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Vitelliform macular dystrophy from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. |
Age related macular degeneration Gene SetFrom DISEASES Experimental Gene-Disease Association Evidence Scores 2025 genes associated with the disease Age related macular degeneration in GWAS datasets from the DISEASES Experimental Gene-Disease Assocation Evidence Scores 2025 dataset. |
Macular degeneration Gene SetFrom DISEASES Experimental Gene-Disease Association Evidence Scores 2025 genes associated with the disease Macular degeneration in GWAS datasets from the DISEASES Experimental Gene-Disease Assocation Evidence Scores 2025 dataset. |
Age related macular degeneration 10 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Age related macular degeneration 10 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Macular degeneration Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Macular degeneration in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Age related macular degeneration Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Age related macular degeneration in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Macular corneal dystrophy Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Macular corneal dystrophy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Macular retinal edema Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Macular retinal edema in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Diabetic macular edema Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Diabetic macular edema in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Vitelliform macular dystrophy Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Vitelliform macular dystrophy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Cystoid macular edema Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Cystoid macular edema in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Macular holes Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Macular holes in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
X-linked atrophic macular degeneration Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease X-linked atrophic macular degeneration in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Congenital hypotrichosis with juvenile macular dystrophy Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Congenital hypotrichosis with juvenile macular dystrophy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Age related macular degeneration 12 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Age related macular degeneration 12 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Macular keratitis Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Macular keratitis in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Retinal macular dystrophy 2 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Retinal macular dystrophy 2 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Age related macular degeneration 1 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Age related macular degeneration 1 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Retinal macular dystrophy 4 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Retinal macular dystrophy 4 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Retinal macular dystrophy Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Retinal macular dystrophy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Retinal macular dystrophy 3 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Retinal macular dystrophy 3 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Occult macular dystrophy Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Occult macular dystrophy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Age related macular degeneration 2 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Age related macular degeneration 2 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
North Carolina macular dystrophy Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease North Carolina macular dystrophy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Patterned macular dystrophy 3 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Patterned macular dystrophy 3 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Patterned macular dystrophy Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Patterned macular dystrophy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Optic disc anomalies with retinal and/or macular dystrophy Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Optic disc anomalies with retinal and/or macular dystrophy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Age related macular degeneration 8 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Age related macular degeneration 8 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Patterned macular dystrophy 2 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Patterned macular dystrophy 2 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Age related macular degeneration 15 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Age related macular degeneration 15 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Age related macular degeneration 7 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Age related macular degeneration 7 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Patterned macular dystrophy 1 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Patterned macular dystrophy 1 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Age related macular degeneration 13 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Age related macular degeneration 13 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Age related macular degeneration 9 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Age related macular degeneration 9 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Age related macular degeneration 14 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Age related macular degeneration 14 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Age related macular degeneration 4 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Age related macular degeneration 4 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Age related macular degeneration 11 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Age related macular degeneration 11 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Macular dystrophy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Macular dystrophy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Age related macular degeneration Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Age related macular degeneration phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Occult macular dystrophy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Occult macular dystrophy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Abnormal macular morphology Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Abnormal macular morphology phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Vitelliform macular dystrophy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Vitelliform macular dystrophy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Macular corneal dystrophy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Macular corneal dystrophy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Macular degeneration Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Macular degeneration phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Age-related macular degeneration Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Age-related macular degeneration phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Retinal macular dystrophy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Retinal macular dystrophy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
MACULAR DEGENERAT Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the MACULAR DEGENERAT phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Patterned macular dystrophy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Patterned macular dystrophy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Hereditary macular dystrophy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Hereditary macular dystrophy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Benign concentric annular macular dystrophy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Benign concentric annular macular dystrophy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Isolated macular dystrophy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Isolated macular dystrophy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
North Carolina macular dystrophy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the North Carolina macular dystrophy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Age-related macular degeneration Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Age-related macular degeneration phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Macular telangiectasia type 2 Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Macular telangiectasia type 2 phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Advanced age-related macular degeneration Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Advanced age-related macular degeneration phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Exudative age-related macular degeneration Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Exudative age-related macular degeneration phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Age-related macular degeneration (SNP x mitochondrial G12771A interaction) Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Age-related macular degeneration (SNP x mitochondrial G12771A interaction) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Diabetic macular edema in type 2 diabetes Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Diabetic macular edema in type 2 diabetes phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Macular thickness Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Macular thickness phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Early age-related macular degeneration Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Early age-related macular degeneration phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Response to ranibizumab in age-related macular degeneration (exudative) Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Response to ranibizumab in age-related macular degeneration (exudative) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Age-related macular degeneration (extreme sampling) Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Age-related macular degeneration (extreme sampling) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Age-related macular degeneration (wet) Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Age-related macular degeneration (wet) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Age-related macular degeneration (choroidal neovascularisation) Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Age-related macular degeneration (choroidal neovascularisation) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Age-related macular degeneration (geographic atrophy) Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Age-related macular degeneration (geographic atrophy) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Age-related macular degeneration (CNV vs. GA) Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Age-related macular degeneration (CNV vs. GA) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Laterality in neovascular age-related macular degeneration Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Laterality in neovascular age-related macular degeneration phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Age-related macular degeneration (MTAG) Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Age-related macular degeneration (MTAG) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Neovascular age-related macular degeneration Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Neovascular age-related macular degeneration phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Disease progression in age-related macular degeneration Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Disease progression in age-related macular degeneration phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Disease progression in age-related macular degeneration (adjusted for baseline) Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Disease progression in age-related macular degeneration (adjusted for baseline) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Disease progression to geographic atrophy form in age-related macular degeneration Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Disease progression to geographic atrophy form in age-related macular degeneration phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Disease progression to choroidal neovascularization form in age-related macular degeneration Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Disease progression to choroidal neovascularization form in age-related macular degeneration phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Response to antioxidants and zinc in age-related macular degeneration (disease progression) Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Response to antioxidants and zinc in age-related macular degeneration (disease progression) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Lynch syndrome:Turcot syndrome Gene SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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. |
resp distress syndrome neonatal; respiratory distress syndrome, newborn Gene SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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. |
angelman syndrome; rett syndrome; seizures Gene SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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. |
antithrombin iii deficiency; gastrointestinal hemorrhage; protein c deficiency; protein s deficiency; splenomegaly; thrombophilia; turner syndrome; venous thrombosis; xo syndrome Gene SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom GAD Gene-Disease Associations genes associated with the disease chromosome aberrations; chromosome abnormality; klinefelter syndrome; klinefelter's syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
brugada syndrome; chromosome deletion; death, sudden, cardiac; long qt syndrome; sudden cardiac death Gene SetFrom GAD Gene-Disease Associations genes associated with the disease brugada syndrome; chromosome deletion; death, sudden, cardiac; long qt syndrome; sudden cardiac death in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
hantavirus infections; hantavirus pulmonary syndrome; heart diseases; syndrome Gene SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom GAD Gene-Disease Associations genes associated with the disease adult respiratory distress syndrome; community-acquired infections; pneumonia; respiratory distress syndrome, adult; septic shock; shock, septic in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
congenital heart defects; digeorge syndrome; heart defects, congenital; pharyngeal pouch; syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease congenital heart defects; digeorge syndrome; heart defects, congenital; pharyngeal pouch; syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
aneurysm, dissecting; aortic aneurysm, thoracic; loeys-dietz syndrome; marfan syndrome Gene SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom Biocarta Pathways proteins participating in the visceral fat deposits and the metabolic syndrome pathway from the Biocarta Pathways dataset. |
Branchiootic syndrome 3 Gene SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom ClinVar Gene-Phenotype Associations genes associated with the Char syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Fragile X syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Fragile X syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Shwachman syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Shwachman syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Greig cephalopolysyndactyly syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Greig cephalopolysyndactyly syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Melnick-Fraser syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Melnick-Fraser syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Marfan's syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Marfan's syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Melnick-Needles syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Melnick-Needles syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Branchiootorenal syndrome 2 Gene SetFrom 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 SetFrom 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 SetFrom 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 SetFrom ClinVar Gene-Phenotype Associations genes associated with the Lesch-Nyhan syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Oculofaciocardiodental syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Oculofaciocardiodental syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Robinow Sorauf syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Robinow Sorauf syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
17q2131 microdeletion syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the 17q2131 microdeletion syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Desbuquois syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Desbuquois syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Macrocephaly/autism syndrome Gene SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom ClinVar Gene-Phenotype Associations genes associated with the Osteopenic nonfracture syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Barakat syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Barakat syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Raine syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Raine syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Digitorenocerebral syndrome Gene SetFrom 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 SetFrom 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 SetFrom 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 SetFrom ClinVar Gene-Phenotype Associations genes associated with the Alport syndrome, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Alstrom syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Alstrom syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Hyperinsulinism-hyperammonemia syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hyperinsulinism-hyperammonemia syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Lynch syndrome II Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Lynch syndrome II phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Joubert syndrome 17 Gene SetFrom 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 SetFrom ClinVar Gene-Phenotype Associations genes associated with the Lethal multiple pterygium syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
MORM syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the MORM syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Upshaw-Schulman syndrome Gene SetFrom 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 SetFrom 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 SetFrom 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 SetFrom ClinVar Gene-Phenotype Associations genes associated with the Usher syndrome, type 1F phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Martsolf syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Martsolf syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Usher syndrome, type 1D Gene SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hurler syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Angelman syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Angelman syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Lig4 syndrome Gene SetFrom 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 SetFrom 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 SetFrom 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 SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hajdu-Cheney syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Hyperferritinemia cataract syndrome Gene SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom ClinVar Gene-Phenotype Associations genes associated with the Chudley-McCullough syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Poretti-boltshauser syndrome Gene SetFrom 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 SetFrom 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 SetFrom 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 SetFrom ClinVar Gene-Phenotype Associations genes associated with the Androgen resistance syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Hypoparathyroidism retardation dysmorphism syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hypoparathyroidism retardation dysmorphism syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome Gene SetFrom 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 SetFrom 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 SetFrom 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 SetFrom ClinVar Gene-Phenotype Associations genes associated with the Young Simpson syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Frasier syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Frasier syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
C-like syndrome Gene SetFrom 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 SetFrom 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 SetFrom 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 SetFrom ClinVar Gene-Phenotype Associations genes associated with the Meier-Gorlin syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Pili torti-deafness syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Pili torti-deafness syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Gorlin syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Gorlin syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Marshall syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Marshall syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Usher syndrome, type 2C Gene SetFrom 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 SetFrom ClinVar Gene-Phenotype Associations genes associated with the Usher syndrome, type 2D phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Carpenter syndrome Gene SetFrom 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 SetFrom 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 SetFrom 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 SetFrom ClinVar Gene-Phenotype Associations genes associated with the Bardet-Biedl syndrome 19 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Myasthenic syndrome, congenital, with pre- and postsynaptic defects Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Myasthenic syndrome, congenital, with pre- and postsynaptic defects phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
22q133 deletion syndrome Gene SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom ClinVar Gene-Phenotype Associations genes associated with the Waardenburg syndrome type 2A phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Steel syndrome Gene SetFrom 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 SetFrom 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 SetFrom ClinVar Gene-Phenotype Associations genes associated with the Roberts-SC phocomelia syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Bloom syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Bloom syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
McLeod neuroacanthocytosis syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the McLeod neuroacanthocytosis syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Cerebrooculofacioskeletal syndrome 4 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Cerebrooculofacioskeletal syndrome 4 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Cerebrooculofacioskeletal syndrome 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Cerebrooculofacioskeletal syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Nicolaides-Baraitser syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Nicolaides-Baraitser syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Nager syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Nager syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Chédiak-Higashi syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Chédiak-Higashi syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Kindler's syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Kindler's syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Carnevale syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Carnevale syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Kenny syndrome Gene SetFrom 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 SetFrom 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 SetFrom ClinVar Gene-Phenotype Associations genes associated with the Rienhoff syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Usher syndrome, type 2A Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Usher syndrome, type 2A phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Weaver syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Weaver syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Lynch syndrome I Gene SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hypotrichosis-lymphedema-telangiectasia syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
LEOPARD syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the LEOPARD syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Hermansky-Pudlak syndrome 9 Gene SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hyper-IgE syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Tourette Syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Tourette Syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Macrocephaly, macrosomia, facial dysmorphism syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Macrocephaly, macrosomia, facial dysmorphism syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Bartter syndrome antenatal type 2 Gene SetFrom 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 SetFrom 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 SetFrom ClinVar Gene-Phenotype Associations genes associated with the Gamstorp-Wohlfart syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Turcot syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Turcot syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Joubert syndrome 3 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Joubert syndrome 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Joubert syndrome 1 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Joubert syndrome 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Joubert syndrome 7 Gene SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom ClinVar Gene-Phenotype Associations genes associated with the Rigidity and multifocal seizure syndrome, lethal neonatal phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Alopecia, neurologic defects, and endocrinopathy syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Alopecia, neurologic defects, and endocrinopathy syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive Gene SetFrom 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 SetFrom ClinVar Gene-Phenotype Associations genes associated with the Weill-Marchesani-like syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Netherton syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Netherton syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Bartter syndrome, type 4b Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Bartter syndrome, type 4b phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Feingold syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Feingold syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Knuckle pads, deafness AND leukonychia syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Knuckle pads, deafness AND leukonychia syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Waardenburg syndrome type 4B Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Waardenburg syndrome type 4B phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Usher syndrome, type 1 Gene SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom ClinVar Gene-Phenotype Associations genes associated with the Costello syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Ochoa syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Ochoa syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Bruck syndrome 1 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Bruck syndrome 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Bruck syndrome 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Bruck syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Achalasia-alacrima syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Achalasia-alacrima syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Cryptophthalmos syndrome Gene SetFrom 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 SetFrom 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 SetFrom 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 SetFrom ClinVar Gene-Phenotype Associations genes associated with the Brugada syndrome 6 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Brugada syndrome 5 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Brugada syndrome 5 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Brugada syndrome 4 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Brugada syndrome 4 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Brugada syndrome 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Brugada syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Brugada syndrome 1 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Brugada syndrome 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Ovarian hyperstimulation syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Ovarian hyperstimulation syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Otofaciocervical syndrome 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Otofaciocervical syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Kaufman oculocerebrofacial syndrome Gene SetFrom 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 SetFrom 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 SetFrom 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 SetFrom ClinVar Gene-Phenotype Associations genes associated with the Stickler syndrome, type 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Branchiooculofacial syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Branchiooculofacial syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Karak syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Karak syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Long QT syndrome 12 Gene SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom ClinVar Gene-Phenotype Associations genes associated with the Jankovic Rivera syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Nakajo syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Nakajo syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Chromosome Xq28 deletion syndrome Gene SetFrom 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 SetFrom ClinVar Gene-Phenotype Associations genes associated with the Fanconi-Bickel syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
short QT syndrome Gene SetFrom 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 SetFrom 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 SetFrom 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 SetFrom ClinVar Gene-Phenotype Associations genes associated with the Joubert syndrome 10 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Joubert syndrome 13 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Joubert syndrome 13 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Joubert syndrome 14 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Joubert syndrome 14 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Joubert syndrome 16 Gene SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom ClinVar Gene-Phenotype Associations genes associated with the Temtamy syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Birk Barel mental retardation dysmorphism syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Birk Barel mental retardation dysmorphism syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Alport syndrome, X-linked recessive Gene SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom ClinVar Gene-Phenotype Associations genes associated with the Lethal congenital contracture syndrome 5 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Ehlers-Danlos syndrome, autosomal recessive, cardiac valvular form Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Ehlers-Danlos syndrome, autosomal recessive, cardiac valvular form phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Leprechaunism syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Leprechaunism syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Simpson-Golabi-Behmel syndrome Gene SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Dysequilibrium syndrome Gene SetFrom 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 SetFrom 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 SetFrom 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 SetFrom ClinVar Gene-Phenotype Associations genes associated with the Johanson-Blizzard syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
GRACILE syndrome Gene SetFrom 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 SetFrom ClinVar Gene-Phenotype Associations genes associated with the X-linked lymphoproliferative syndrome 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Kowarski syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Kowarski syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
ADULT syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the ADULT syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Meckel-Gruber syndrome Gene SetFrom 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 SetFrom 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 SetFrom ClinVar Gene-Phenotype Associations genes associated with the Neutrophil immunodeficiency syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Coffin-Lowry syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Coffin-Lowry syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Auriculocondylar syndrome 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Auriculocondylar syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Auriculocondylar syndrome 3 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Auriculocondylar syndrome 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Auriculocondylar syndrome 1 Gene SetFrom 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 SetFrom 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 SetFrom ClinVar Gene-Phenotype Associations genes associated with the Pierson syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Pfeiffer syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Pfeiffer syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Loeys-Dietz syndrome 1 Gene SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom ClinVar Gene-Phenotype Associations genes associated with the Perrault syndrome 5 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Perrault syndrome 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Perrault syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Jensen syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Jensen syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Werner syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Werner syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Aarskog syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Aarskog syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Enamel-renal syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Enamel-renal syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Joubert syndrome 21 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Joubert syndrome 21 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Joubert syndrome 20 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Joubert syndrome 20 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Joubert syndrome 22 Gene SetFrom 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 SetFrom 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 SetFrom 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 SetFrom ClinVar Gene-Phenotype Associations genes associated with the Keutel syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Pitt-Hopkins syndrome Gene SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom ClinVar Gene-Phenotype Associations genes associated with the Stiff skin syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Lenz microphthalmia syndrome Gene SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom ClinVar Gene-Phenotype Associations genes associated with the Grebe syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Saethre-Chotzen syndrome Gene SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom ClinVar Gene-Phenotype Associations genes associated with the Wieacker syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Kabuki make-up syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Kabuki make-up syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Cohen syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Cohen syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Oligodontia-colorectal cancer syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Oligodontia-colorectal cancer syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Filippi syndrome Gene SetFrom 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 SetFrom 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 SetFrom ClinVar Gene-Phenotype Associations genes associated with the Primrose syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Perrault syndrome 4 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Perrault syndrome 4 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Marshall-Smith syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Marshall-Smith syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Loeys-Dietz syndrome Gene SetFrom 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 SetFrom ClinVar Gene-Phenotype Associations genes associated with the Brittle cornea syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Rotor syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Rotor syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Oral-facial-digital syndrome Gene SetFrom 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 SetFrom 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 SetFrom ClinVar Gene-Phenotype Associations genes associated with the Gray platelet syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Mast syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Mast syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Amish infantile epilepsy syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Amish infantile epilepsy syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Meacham syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Meacham syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Stormorken syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Stormorken syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Opitz-Frias syndrome Gene SetFrom 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 SetFrom 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 SetFrom 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 SetFrom ClinVar Gene-Phenotype Associations genes associated with the Kallmann syndrome 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Kallmann syndrome 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Kallmann syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Kallmann syndrome 4 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Kallmann syndrome 4 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Kallmann syndrome 5 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Kallmann syndrome 5 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Kallmann syndrome 6 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Kallmann syndrome 6 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Yunis Varon syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Yunis Varon syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Cowden syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Cowden syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Mulibrey nanism syndrome Gene SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom ClinVar Gene-Phenotype Associations genes associated with the SeSAME syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Odontotrichomelic syndrome Gene SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom ClinVar Gene-Phenotype Associations genes associated with the Van Maldergem syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Robinow syndrome Gene SetFrom 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 SetFrom 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 SetFrom ClinVar Gene-Phenotype Associations genes associated with the Orofaciodigital syndrome 6 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Orofaciodigital syndrome 5 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Orofaciodigital syndrome 5 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Distichiasis-lymphedema syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Distichiasis-lymphedema syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Townes syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Townes syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Neu-Laxova syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Neu-Laxova syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Winchester syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Winchester syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Unverricht-Lundborg syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Unverricht-Lundborg syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Verheij syndrome Gene SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom ClinVar Gene-Phenotype Associations genes associated with the Arterial tortuosity syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Juvenile polyposis syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Juvenile polyposis syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Papillon-Lefèvre syndrome Gene SetFrom 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 SetFrom 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 SetFrom 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 SetFrom ClinVar Gene-Phenotype Associations genes associated with the Peters plus syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Ulnar-mammary syndrome Gene SetFrom 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 SetFrom 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 SetFrom ClinVar Gene-Phenotype Associations genes associated with the Zunich neuroectodermal syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Beckwith-Wiedemann syndrome Gene SetFrom 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 SetFrom 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 SetFrom ClinVar Gene-Phenotype Associations genes associated with the Sotos' syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Dyggve-Melchior-Clausen syndrome Gene SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom ClinVar Gene-Phenotype Associations genes associated with the Tatton-Brown-rahman syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
COACH syndrome Gene SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom ClinVar Gene-Phenotype Associations genes associated with the Sudden infant death syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Dursun syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Dursun syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Carpenter syndrome 2 Gene SetFrom 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 SetFrom 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 SetFrom ClinVar Gene-Phenotype Associations genes associated with the Haim-Munk syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Knobloch syndrome 1 Gene SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom ClinVar Gene-Phenotype Associations genes associated with the Serkal syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Marinesco-Sjögren syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Marinesco-Sjögren syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Seckel syndrome 8 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Seckel syndrome 8 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Seckel syndrome 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Seckel syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Seckel syndrome 1 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Seckel syndrome 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Seckel syndrome 7 Gene SetFrom 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 SetFrom 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 SetFrom ClinVar Gene-Phenotype Associations genes associated with the Urofacial syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Gordon's syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Gordon's syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Arts syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Arts syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Noonan syndrome 8 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Noonan syndrome 8 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Noonan syndrome 5 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Noonan syndrome 5 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Noonan syndrome 4 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Noonan syndrome 4 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Noonan syndrome 7 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Noonan syndrome 7 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Noonan syndrome 6 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Noonan syndrome 6 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Noonan syndrome 1 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Noonan syndrome 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Noonan syndrome 3 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Noonan syndrome 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
McKusick Kaufman syndrome Gene SetFrom 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 SetFrom 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 SetFrom ClinVar Gene-Phenotype Associations genes associated with the Rubinstein-Taybi syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
FG syndrome 2 Gene SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom ClinVar Gene-Phenotype Associations genes associated with the Bernard-Soulier syndrome, type A1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |