Name

Papillorenal Syndrome With Macular Abnormalities Gene Set

From 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 Set

From 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 Set

From 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 Set

From GAD Gene-Disease Associations

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

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

From GAD Gene-Disease Associations

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

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

From GAD Gene-Disease Associations

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

Papillorenal syndrome Gene Set

From CTD Gene-Disease Associations

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

papillorenal syndrome Gene Set

From OMIM Gene-Disease Associations

genes associated with the papillorenal syndrome phenotype from the curated OMIM Gene-Disease Associations dataset.

Papillorenal Syndrome Gene Set

From 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 Set

From 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 Set

From 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 Set

From GAD Gene-Disease Associations

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

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

From GAD Gene-Disease Associations

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

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

From ClinVar Gene-Phenotype Associations

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

abnormalities, multiple; arrhythmias, cardiac; autonomic nervous system diseases; death, sudden; hypoventilation; syndrome Gene Set

From 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 Set

From 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 Set

From GAD Gene-Disease Associations

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

abnormalities, multiple; syndrome Gene Set

From 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 Set

From GAD Gene-Disease Associations

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

abnormalities, multiple; chromosome breakage; facies; growth disorders; syndrome Gene Set

From 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 Set

From GAD Gene-Disease Associations

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

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

From OMIM Gene-Disease Associations

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

Nail And Tooth Abnormalities, Marginal Palmoplantar Keratoderma, Oral Hyperpigmentation Syndrome Gene Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From GAD Gene-Disease Associations

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

Ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome Gene Set

From 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 Set

From 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 Set

From ClinVar Gene-Phenotype Associations

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

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

From ClinVar Gene-Phenotype Associations

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

Renal tubular acidosis, proximal, with ocular abnormalities and mental retardation Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Renal tubular acidosis, proximal, with ocular abnormalities and mental retardation phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

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

From ClinVar Gene-Phenotype Associations

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

Immunodeficiency 26 with or without neurologic abnormalities Gene Set

From ClinVar Gene-Phenotype Associations

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

Congenital Abnormalities Gene Set

From CTD Gene-Disease Associations

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

Skin Abnormalities Gene Set

From CTD Gene-Disease Associations

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

Abnormalities, Severe Teratoid Gene Set

From 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 Set

From CTD Gene-Disease Associations

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

Tooth Abnormalities Gene Set

From CTD Gene-Disease Associations

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

Stomatognathic System Abnormalities Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Stomatognathic System Abnormalities from the curated CTD Gene-Disease Associations dataset.

Eye Abnormalities Gene Set

From CTD Gene-Disease Associations

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

Urogenital Abnormalities Gene Set

From 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 Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities from the curated CTD Gene-Disease Associations dataset.

Maxillofacial Abnormalities Gene Set

From CTD Gene-Disease Associations

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

Lymphatic Abnormalities Gene Set

From CTD Gene-Disease Associations

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

Jaw Abnormalities Gene Set

From CTD Gene-Disease Associations

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

Respiratory System Abnormalities Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Respiratory System Abnormalities from the curated CTD Gene-Disease Associations dataset.

Craniofacial Abnormalities Gene Set

From CTD Gene-Disease Associations

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

Cardiovascular Abnormalities Gene Set

From 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 Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Mental Retardation from the curated CTD Gene-Disease Associations dataset.

Mouth Abnormalities Gene Set

From CTD Gene-Disease Associations

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

Abnormalities, Multiple Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Abnormalities, Multiple from the curated CTD Gene-Disease Associations dataset.

Musculoskeletal Abnormalities Gene Set

From 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 Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Cutis Laxa With Severe Pulmonary, Gastrointestinal, And Urinary Abnormalities from the curated CTD Gene-Disease Associations dataset.

Abnormalities, Drug-Induced Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Abnormalities, Drug-Induced from the curated CTD Gene-Disease Associations dataset.

Jaw Abnormalities Gene Set

From 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 Set

From 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 Set

From 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 Set

From GAD Gene-Disease Associations

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

eye abnormalities Gene Set

From 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 Set

From GAD Gene-Disease Associations

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

anophthalmos; coloboma; eye abnormalities; microphthalmos Gene Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From GWASdb SNP-Phenotype Associations

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

erectile abnormalities Gene Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From OMIM Gene-Disease Associations

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

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

From OMIM Gene-Disease Associations

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

primary aldosteronism, seizures, and neurologic abnormalities Gene Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From OMIM Gene-Disease Associations

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

Mitochondrial Abnormalities Gene Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From Reactome Pathways 2024

proteins 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From ClinVar Gene-Phenotype Associations

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

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

From GAD Gene-Disease Associations

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

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

From GAD Gene-Disease Associations

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

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

From GAD Gene-Disease Associations

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

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

From GAD Gene-Disease Associations

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

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

From GAD Gene-Disease Associations

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

Macular dystrophy, vitelliform, 5 Gene Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Juvenile macular degeneration and hypotrichosis from the curated CTD Gene-Disease Associations dataset.

Vitelliform Macular Dystrophy Gene Set

From 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 Set

From CTD Gene-Disease Associations

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

Hereditary macular coloboma Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Hereditary macular coloboma from the curated CTD Gene-Disease Associations dataset.

Macular Edema Gene Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From GWASdb SNP-Phenotype Associations

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

macular hyperpigmentation Gene Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From OMIM Gene-Disease Associations

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

macular dystrophy, retinal, 3 Gene Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From ClinVar Gene-Phenotype Associations

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

Hereditary cancer-predisposing syndrome:Lynch syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

Zunich neuroectodermal syndrome:Zunich neuroectodermal syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

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

From ClinVar Gene-Phenotype Associations

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

Noonan syndrome and Noonan-related syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

Lynch syndrome:Hereditary cancer-predisposing syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

Lynch syndrome:Lynch syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

Marfan's syndrome:Marfan's syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

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

From ClinVar Gene-Phenotype Associations

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

IFAP syndrome with or without BRESHECK syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

Lynch syndrome I:Lynch syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

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

From ClinVar Gene-Phenotype Associations

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

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

From CTD Gene-Disease Associations

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

Digeorge Syndrome/Velocardiofacial Syndrome Complex 2 Gene Set

From CTD Gene-Disease Associations

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

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

From GAD Gene-Disease Associations

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

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

From GAD Gene-Disease Associations

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

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

From GAD Gene-Disease Associations

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

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

From GAD Gene-Disease Associations

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

hyperhomocysteinemia; polycystic ovarian syndrome; polycystic ovary syndrome Gene Set

From GAD Gene-Disease Associations

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

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

From GAD Gene-Disease Associations

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

cornelia de lange syndrome; de lange syndrome Gene Set

From GAD Gene-Disease Associations

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

fatigue syndrome, chronic; fatigue syndrome; postviral Gene Set

From GAD Gene-Disease Associations

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

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

From GAD Gene-Disease Associations

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

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

From GAD Gene-Disease Associations

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

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

From GAD Gene-Disease Associations

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

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

From GAD Gene-Disease Associations

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

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

From GAD Gene-Disease Associations

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

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

From GAD Gene-Disease Associations

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

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

From GAD Gene-Disease Associations

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

restless legs syndrome; tourette syndrome Gene Set

From GAD Gene-Disease Associations

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

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

From GAD Gene-Disease Associations

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

polycystic ovarian syndrome; polycystic ovary syndrome Gene Set

From GAD Gene-Disease Associations

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

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

From GAD Gene-Disease Associations

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

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

From GAD Gene-Disease Associations

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

behcet syndrome; uveomeningoencephalitic syndrome Gene Set

From GAD Gene-Disease Associations

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

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

From GAD Gene-Disease Associations

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

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

From GAD Gene-Disease Associations

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

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

From GAD Gene-Disease Associations

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

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

From GAD Gene-Disease Associations

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

melas syndrome; merrf syndrome Gene Set

From GAD Gene-Disease Associations

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

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

From GAD Gene-Disease Associations

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

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

From GAD Gene-Disease Associations

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

infertility; polycystic ovarian syndrome; polycystic ovary syndrome Gene Set

From GAD Gene-Disease Associations

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

angelman syndrome; rett syndrome; seizures Gene Set

From GAD Gene-Disease Associations

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

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

From GAD Gene-Disease Associations

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

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

From GAD Gene-Disease Associations

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

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

From GAD Gene-Disease Associations

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

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

From GAD Gene-Disease Associations

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

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

From GAD Gene-Disease Associations

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

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

From GAD Gene-Disease Associations

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

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

From GAD Gene-Disease Associations

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

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

From GAD Gene-Disease Associations

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

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

From GAD Gene-Disease Associations

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

metabolic syndrome ; metabolic syndrome Gene Set

From GAD Gene-Disease Associations

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

obesity; polycystic ovarian syndrome; polycystic ovary syndrome Gene Set

From GAD Gene-Disease Associations

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

digeorge syndrome; pharyngeal pouch; syndrome Gene Set

From GAD Gene-Disease Associations

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

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

From GAD Gene-Disease Associations

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

haemolytic-uraemic syndrome; hemolytic-uremic syndrome Gene Set

From GAD Gene-Disease Associations

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

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

From GAD Gene-Disease Associations

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

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

From GAD Gene-Disease Associations

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

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

From GAD Gene-Disease Associations

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

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

From GAD Gene-Disease Associations

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

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

From GAD Gene-Disease Associations

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

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

From GAD Gene-Disease Associations

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

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

From GAD Gene-Disease Associations

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

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

From GAD Gene-Disease Associations

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

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

From GAD Gene-Disease Associations

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

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

From GAD Gene-Disease Associations

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

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

From GAD Gene-Disease Associations

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

down syndrome; ehlers-danlos syndrome Gene Set

From GAD Gene-Disease Associations

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

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

From GAD Gene-Disease Associations

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

polycystic ovarian syndrome; polycystic ovary syndrome; thrombophilia Gene Set

From GAD Gene-Disease Associations

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

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

From GAD Gene-Disease Associations

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

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

From GAD Gene-Disease Associations

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

heart-hand syndrome, holt-oram syndrome Gene Set

From GAD Gene-Disease Associations

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

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

From GAD Gene-Disease Associations

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

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

From GAD Gene-Disease Associations

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

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

From GAD Gene-Disease Associations

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

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

From GAD Gene-Disease Associations

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

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

From GAD Gene-Disease Associations

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

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

From GAD Gene-Disease Associations

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

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

From GAD Gene-Disease Associations

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

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

From GAD Gene-Disease Associations

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

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

From OMIM Gene-Disease Associations

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

digeorge syndrome/velocardiofacial syndrome complex-2 Gene Set

From OMIM Gene-Disease Associations

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

ifap syndrome with or without bresheck syndrome Gene Set

From OMIM Gene-Disease Associations

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

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

From DisGeNET Gene-Disease Associations

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

Crouzon syndrome-acanthosis nigricans syndrome Gene Set

From DISEASES Curated Gene-Disease Association Evidence Scores 2025

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

Crouzon syndrome-acanthosis nigricans syndrome Gene Set

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

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

Noonan syndrome and Noonan-related syndrome Gene Set

From ClinVar Gene-Phenotype Associations 2025

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

Crouzon syndrome-acanthosis nigricans syndrome Gene Set

From ClinVar Gene-Phenotype Associations 2025

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

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

From ClinVar Gene-Phenotype Associations 2025

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

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

From ClinVar Gene-Phenotype Associations 2025

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

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

From GWAS Catalog SNP-Phenotype Associations 2025

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

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

From GWAS Catalog SNP-Phenotype Associations 2025

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

visceral fat deposits and the metabolic syndrome Gene Set

From Biocarta Pathways

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

Branchiootic syndrome 3 Gene Set

From ClinVar Gene-Phenotype Associations

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

Bartter syndrome, type 3, with hypocalciuria Gene Set

From ClinVar Gene-Phenotype Associations

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

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

From ClinVar Gene-Phenotype Associations

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

Multiple synostoses syndrome 3 Gene Set

From ClinVar Gene-Phenotype Associations

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

Sjögren-Larsson syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

Hennekam lymphangiectasia-lymphedema syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

UV-sensitive syndrome 3 Gene Set

From ClinVar Gene-Phenotype Associations

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

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

From ClinVar Gene-Phenotype Associations

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

Foveal hypoplasia and presenile cataract syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

Short rib-polydactyly syndrome, Majewski type Gene Set

From ClinVar Gene-Phenotype Associations

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

Char syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

Fragile X syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

Shwachman syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

Greig cephalopolysyndactyly syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

Melnick-Fraser syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

Marfan's syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

Melnick-Needles syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

Branchiootorenal syndrome 2 Gene Set

From ClinVar Gene-Phenotype Associations

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

Megalencephaly polymicrogyria-polydactyly hydrocephalus syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

PTEN hamartoma tumor syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

Lesch-Nyhan syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

Oculofaciocardiodental syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

Robinow Sorauf syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

17q2131 microdeletion syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

Desbuquois syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

Macrocephaly/autism syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

Nephrotic syndrome, type 9 Gene Set

From ClinVar Gene-Phenotype Associations

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

Nephrotic syndrome, type 8 Gene Set

From ClinVar Gene-Phenotype Associations

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

Mohr-Tranebjaerg syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

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

From ClinVar Gene-Phenotype Associations

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

Osteopenic nonfracture syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

Barakat syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

Raine syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

Digitorenocerebral syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

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

From ClinVar Gene-Phenotype Associations

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

Ataxia-telangiectasia syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

Alport syndrome, autosomal recessive Gene Set

From ClinVar Gene-Phenotype Associations

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

Alstrom syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

Hyperinsulinism-hyperammonemia syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

Lynch syndrome II Gene Set

From ClinVar Gene-Phenotype Associations

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

Joubert syndrome 17 Gene Set

From ClinVar Gene-Phenotype Associations

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

Lethal multiple pterygium syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

MORM syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

Upshaw-Schulman syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

Hereditary cancer-predisposing syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

Usher syndrome, type 1C Gene Set

From ClinVar Gene-Phenotype Associations

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

Usher syndrome, type 1F Gene Set

From ClinVar Gene-Phenotype Associations

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

Martsolf syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

Usher syndrome, type 1D Gene Set

From ClinVar Gene-Phenotype Associations

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

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

From ClinVar Gene-Phenotype Associations

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

Usher syndrome, type 1J Gene Set

From ClinVar Gene-Phenotype Associations

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

Chromosome 2q32-q33 deletion syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

Blepharophimosis-ptosis-intellectual disability syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

Borrone Di Rocco Crovato syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

Hurler syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

Angelman syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

Lig4 syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

Mitochondrial DNA depletion syndrome 4B, MNGIE type Gene Set

From ClinVar Gene-Phenotype Associations

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

Rubinstein-Taybi syndrome 2 Gene Set

From ClinVar Gene-Phenotype Associations

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

Hajdu-Cheney syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

Hyperferritinemia cataract syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

Temtamy preaxial brachydactyly syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

Mitochondrial DNA depletion syndrome 2 Gene Set

From ClinVar Gene-Phenotype Associations

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

Hyperimmunoglobulin E syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

Bannayan-Riley-Ruvalcaba syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

Chudley-McCullough syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

Poretti-boltshauser syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

Bosch-boonstra-schaaf optic atrophy syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

Frank Ter Haar syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

Androgen resistance syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

Hypoparathyroidism retardation dysmorphism syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

Holt-Oram syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

Duane syndrome type 2 Gene Set

From ClinVar Gene-Phenotype Associations

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

Young Simpson syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

Frasier syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

C-like syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 Gene Set

From ClinVar Gene-Phenotype Associations

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

Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3 Gene Set

From ClinVar Gene-Phenotype Associations

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

Meier-Gorlin syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

Pili torti-deafness syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

Gorlin syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

Marshall syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

Usher syndrome, type 2C Gene Set

From ClinVar Gene-Phenotype Associations

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

Usher syndrome, type 2D Gene Set

From ClinVar Gene-Phenotype Associations

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

Carpenter syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

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

From ClinVar Gene-Phenotype Associations

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

Duane-radial ray syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

Bardet-Biedl syndrome 19 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Bardet-Biedl syndrome 19 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

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

From ClinVar Gene-Phenotype Associations

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

22q133 deletion syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

Cutis laxa-corneal clouding-oligophrenia syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

Craniofacial anomalies and anterior segment dysgenesis syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

Bardet-Biedl syndrome 14 Gene Set

From ClinVar Gene-Phenotype Associations

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

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

From ClinVar Gene-Phenotype Associations

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

Waardenburg syndrome type 2A Gene Set

From ClinVar Gene-Phenotype Associations

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

Steel syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

Chromosome 1q43-q44 deletion syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

Roberts-SC phocomelia syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

Bloom syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

McLeod neuroacanthocytosis syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

Cerebrooculofacioskeletal syndrome 4 Gene Set

From ClinVar Gene-Phenotype Associations

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

Cerebrooculofacioskeletal syndrome 2 Gene Set

From ClinVar Gene-Phenotype Associations

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

Nicolaides-Baraitser syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

Nager syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

Chédiak-Higashi syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

Kindler's syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

Carnevale syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

Kenny syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

Episodic pain syndrome, familial, 2 Gene Set

From ClinVar Gene-Phenotype Associations

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

Rienhoff syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

Usher syndrome, type 2A Gene Set

From ClinVar Gene-Phenotype Associations

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

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

From ClinVar Gene-Phenotype Associations

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

Weaver syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

Lynch syndrome I Gene Set

From ClinVar Gene-Phenotype Associations

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

Ectodermal dysplasia/short stature syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

Siderius X-linked mental retardation syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

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

From ClinVar Gene-Phenotype Associations

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

Kohlschutter's syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

X-linked mental retardation with marfanoid habitus syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

Cerebro-oculo-facio-skeletal syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

Hypotrichosis-lymphedema-telangiectasia syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

LEOPARD syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

Hermansky-Pudlak syndrome 9 Gene Set

From ClinVar Gene-Phenotype Associations

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

Hermansky-Pudlak syndrome 4 Gene Set

From ClinVar Gene-Phenotype Associations

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

Hermansky-Pudlak syndrome 5 Gene Set

From ClinVar Gene-Phenotype Associations

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

Hermansky-Pudlak syndrome 6 Gene Set

From ClinVar Gene-Phenotype Associations

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

Hermansky-Pudlak syndrome 7 Gene Set

From ClinVar Gene-Phenotype Associations

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

Hermansky-Pudlak syndrome 3 Gene Set

From ClinVar Gene-Phenotype Associations

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

Treacher collins syndrome 1 Gene Set

From ClinVar Gene-Phenotype Associations

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

Wiskott-Aldrich syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

Episodic pain syndrome, familial, 3 Gene Set

From ClinVar Gene-Phenotype Associations

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

Hyper-IgE syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

Tourette Syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

Macrocephaly, macrosomia, facial dysmorphism syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

Bartter syndrome antenatal type 2 Gene Set

From ClinVar Gene-Phenotype Associations

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

Bartter syndrome antenatal type 1 Gene Set

From ClinVar Gene-Phenotype Associations

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

Gamstorp-Wohlfart syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

Turcot syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

Joubert syndrome 3 Gene Set

From ClinVar Gene-Phenotype Associations

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

Joubert syndrome 1 Gene Set

From ClinVar Gene-Phenotype Associations

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

Joubert syndrome 7 Gene Set

From ClinVar Gene-Phenotype Associations

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

Long QT syndrome 1 Gene Set

From ClinVar Gene-Phenotype Associations

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

Long QT syndrome 2 Gene Set

From ClinVar Gene-Phenotype Associations

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

Long QT syndrome 3 Gene Set

From ClinVar Gene-Phenotype Associations

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

Sick sinus syndrome 2, autosomal dominant Gene Set

From ClinVar Gene-Phenotype Associations

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

Hyaline fibromatosis syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

Rigidity and multifocal seizure syndrome, lethal neonatal Gene Set

From ClinVar Gene-Phenotype Associations

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

Alopecia, neurologic defects, and endocrinopathy syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive Gene Set

From ClinVar Gene-Phenotype Associations

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

Weill-Marchesani-like syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

Netherton syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

Bartter syndrome, type 4b Gene Set

From ClinVar Gene-Phenotype Associations

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

Feingold syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

Knuckle pads, deafness AND leukonychia syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

Waardenburg syndrome type 4B Gene Set

From ClinVar Gene-Phenotype Associations

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

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

From ClinVar Gene-Phenotype Associations

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

Usher syndrome, type 1 Gene Set

From ClinVar Gene-Phenotype Associations

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

Richieri Costa Pereira syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

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

From ClinVar Gene-Phenotype Associations

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

Autoimmune lymphoproliferative syndrome, type 2 Gene Set

From ClinVar Gene-Phenotype Associations

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

Bartter syndrome type 4 Gene Set

From ClinVar Gene-Phenotype Associations

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

Bartter syndrome type 3 Gene Set

From ClinVar Gene-Phenotype Associations

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

Myasthenic syndrome, congenital, fast-channel Gene Set

From ClinVar Gene-Phenotype Associations

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

Mitochondrial DNA depletion syndrome 12 (cardiomyopathic type) Gene Set

From ClinVar Gene-Phenotype Associations

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

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

From ClinVar Gene-Phenotype Associations

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

Wilson-Turner X-linked mental retardation syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

Costello syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

Ochoa syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

Bruck syndrome 1 Gene Set

From ClinVar Gene-Phenotype Associations

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

Bruck syndrome 2 Gene Set

From ClinVar Gene-Phenotype Associations

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

Achalasia-alacrima syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

Cryptophthalmos syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

Nijmegen breakage syndrome-like disorder Gene Set

From ClinVar Gene-Phenotype Associations

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

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

From ClinVar Gene-Phenotype Associations

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

Brugada syndrome 6 Gene Set

From ClinVar Gene-Phenotype Associations

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

Brugada syndrome 5 Gene Set

From ClinVar Gene-Phenotype Associations

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

Brugada syndrome 4 Gene Set

From ClinVar Gene-Phenotype Associations

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

Brugada syndrome 2 Gene Set

From ClinVar Gene-Phenotype Associations

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

Brugada syndrome 1 Gene Set

From ClinVar Gene-Phenotype Associations

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

Ovarian hyperstimulation syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

Otofaciocervical syndrome 2 Gene Set

From ClinVar Gene-Phenotype Associations

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

Kaufman oculocerebrofacial syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

Stickler syndrome, type 5 Gene Set

From ClinVar Gene-Phenotype Associations

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

Stickler syndrome, type 4 Gene Set

From ClinVar Gene-Phenotype Associations

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

Stickler syndrome, type 2 Gene Set

From ClinVar Gene-Phenotype Associations

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

Branchiooculofacial syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

Karak syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

Long QT syndrome 12 Gene Set

From ClinVar Gene-Phenotype Associations

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

Long QT syndrome 13 Gene Set

From ClinVar Gene-Phenotype Associations

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

Long QT syndrome 10 Gene Set

From ClinVar Gene-Phenotype Associations

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

Hermansky Pudlak syndrome 2 Gene Set

From ClinVar Gene-Phenotype Associations

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

Tarsal carpal coalition syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

Jankovic Rivera syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

Nakajo syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

Chromosome Xq28 deletion syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

Fanconi-Bickel syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

short QT syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

Smith-Lemli-Opitz syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

Von Hippel-Lindau syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

Joubert syndrome 10 Gene Set

From ClinVar Gene-Phenotype Associations

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

Joubert syndrome 13 Gene Set

From ClinVar Gene-Phenotype Associations

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

Joubert syndrome 14 Gene Set

From ClinVar Gene-Phenotype Associations

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

Joubert syndrome 16 Gene Set

From ClinVar Gene-Phenotype Associations

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

Usher syndrome, type 1B Gene Set

From ClinVar Gene-Phenotype Associations

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

Usher syndrome, type 1G Gene Set

From ClinVar Gene-Phenotype Associations

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

Ehlers-Danlos syndrome progeroid type Gene Set

From ClinVar Gene-Phenotype Associations

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

Larsen syndrome, dominant type Gene Set

From ClinVar Gene-Phenotype Associations

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

Ehlers-Danlos syndrome, musculocontractural type Gene Set

From ClinVar Gene-Phenotype Associations

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

Temtamy syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

Birk Barel mental retardation dysmorphism syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

Alport syndrome, X-linked recessive Gene Set

From ClinVar Gene-Phenotype Associations

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

Hyperphosphatasia with mental retardation syndrome 2 Gene Set

From ClinVar Gene-Phenotype Associations

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

Hyperphosphatasia with mental retardation syndrome 3 Gene Set

From ClinVar Gene-Phenotype Associations

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

Hyperphosphatasia with mental retardation syndrome 1 Gene Set

From ClinVar Gene-Phenotype Associations

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

Hyperphosphatasia with mental retardation syndrome 4 Gene Set

From ClinVar Gene-Phenotype Associations

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

Hyperphosphatasia with mental retardation syndrome 5 Gene Set

From ClinVar Gene-Phenotype Associations

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

Adenomatous polyposis coli:Gardner syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

Jervell and Lange-Nielsen syndrome 2 Gene Set

From ClinVar Gene-Phenotype Associations

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

Lethal congenital contracture syndrome 5 Gene Set

From ClinVar Gene-Phenotype Associations

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

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

From ClinVar Gene-Phenotype Associations

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

Leprechaunism syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

Simpson-Golabi-Behmel syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

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

From ClinVar Gene-Phenotype Associations

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

XFE progeroid syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

Meckel syndrome type 2 Gene Set

From ClinVar Gene-Phenotype Associations

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

Meckel syndrome type 3 Gene Set

From ClinVar Gene-Phenotype Associations

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

Meckel syndrome type 1 Gene Set

From ClinVar Gene-Phenotype Associations

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

Meckel syndrome type 4 Gene Set

From ClinVar Gene-Phenotype Associations

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

Meckel syndrome type 5 Gene Set

From ClinVar Gene-Phenotype Associations

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

Leigh syndrome due to mitochondrial complex I deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

Dysequilibrium syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

Atypical hemolytic-uremic syndrome 1 Gene Set

From ClinVar Gene-Phenotype Associations

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

Atypical hemolytic-uremic syndrome 3 Gene Set

From ClinVar Gene-Phenotype Associations

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

Johanson-Blizzard syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

GRACILE syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

X-linked lymphoproliferative syndrome 1 Gene Set

From ClinVar Gene-Phenotype Associations

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

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

From ClinVar Gene-Phenotype Associations

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

Kowarski syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

ADULT syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

Meckel-Gruber syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

X-linked lymphoproliferative syndrome 2 Gene Set

From ClinVar Gene-Phenotype Associations

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

Neutrophil immunodeficiency syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

Coffin-Lowry syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

Auriculocondylar syndrome 2 Gene Set

From ClinVar Gene-Phenotype Associations

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

Auriculocondylar syndrome 3 Gene Set

From ClinVar Gene-Phenotype Associations

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

Auriculocondylar syndrome 1 Gene Set

From ClinVar Gene-Phenotype Associations

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

Ehlers-Danlos syndrome, hydroxylysine-deficient Gene Set

From ClinVar Gene-Phenotype Associations

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

Pierson syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

Pfeiffer syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

Loeys-Dietz syndrome 1 Gene Set

From ClinVar Gene-Phenotype Associations

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

Tricho-dento-osseous syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

Mowat-Wilson syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

Nephrotic syndrome, type 10 Gene Set

From ClinVar Gene-Phenotype Associations

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

Perrault syndrome 5 Gene Set

From ClinVar Gene-Phenotype Associations

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

Perrault syndrome 2 Gene Set

From ClinVar Gene-Phenotype Associations

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

Jensen syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

Werner syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

Aarskog syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

Enamel-renal syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

Joubert syndrome 21 Gene Set

From ClinVar Gene-Phenotype Associations

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

Joubert syndrome 20 Gene Set

From ClinVar Gene-Phenotype Associations

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

Joubert syndrome 22 Gene Set

From ClinVar Gene-Phenotype Associations

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

Multiple synostoses syndrome 2 Gene Set

From ClinVar Gene-Phenotype Associations

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

Popliteal pterygium syndrome lethal type Gene Set

From ClinVar Gene-Phenotype Associations

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

Keutel syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

Pitt-Hopkins syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

Segawa syndrome, autosomal recessive Gene Set

From ClinVar Gene-Phenotype Associations

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

Multiple pterygium syndrome Escobar type Gene Set

From ClinVar Gene-Phenotype Associations

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

Pitt-Hopkins-like syndrome 2 Gene Set

From ClinVar Gene-Phenotype Associations

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

Pitt-Hopkins-like syndrome 1 Gene Set

From ClinVar Gene-Phenotype Associations

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

Lynch syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

Congenital short bowel syndrome, X-linked Gene Set

From ClinVar Gene-Phenotype Associations

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

C syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

Klippel-Feil syndrome 2, autosomal recessive Gene Set

From ClinVar Gene-Phenotype Associations

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

Stiff skin syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

Lenz microphthalmia syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

Autosomal recessive hypohidrotic ectodermal dysplasia syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

Marshall/Stickler syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

Schwartz Jampel syndrome type 1 Gene Set

From ClinVar Gene-Phenotype Associations

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

Grebe syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

Saethre-Chotzen syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

Myasthenic syndrome, slow-channel congenital Gene Set

From ClinVar Gene-Phenotype Associations

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

Floating-Harbor syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

Warburg micro syndrome 1 Gene Set

From ClinVar Gene-Phenotype Associations

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

Warburg micro syndrome 3 Gene Set

From ClinVar Gene-Phenotype Associations

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

Warburg micro syndrome 2 Gene Set

From ClinVar Gene-Phenotype Associations

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

AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE V Gene Set

From ClinVar Gene-Phenotype Associations

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

Hermansky-Pudlak syndrome 1 Gene Set

From ClinVar Gene-Phenotype Associations

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

Osler hemorrhagic telangiectasia syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

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

From ClinVar Gene-Phenotype Associations

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

Wieacker syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

Kabuki make-up syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

Cohen syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

Oligodontia-colorectal cancer syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

Filippi syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

Lethal congenital contractural syndrome 3 Gene Set

From ClinVar Gene-Phenotype Associations

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

Primrose syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

Perrault syndrome 4 Gene Set

From ClinVar Gene-Phenotype Associations

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

Marshall-Smith syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

Loeys-Dietz syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

Brittle cornea syndrome 2 Gene Set

From ClinVar Gene-Phenotype Associations

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

Rotor syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

Oral-facial-digital syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

Acrocallosal syndrome, Schinzel type Gene Set

From ClinVar Gene-Phenotype Associations

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

Gray platelet syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

Mast syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

Amish infantile epilepsy syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

Meacham syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

Stormorken syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

Opitz-Frias syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

Cardio-facio-cutaneous syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

Mitochondrial DNA depletion syndrome 11 Gene Set

From ClinVar Gene-Phenotype Associations

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

Kallmann syndrome 1 Gene Set

From ClinVar Gene-Phenotype Associations

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

Kallmann syndrome 2 Gene Set

From ClinVar Gene-Phenotype Associations

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

Kallmann syndrome 4 Gene Set

From ClinVar Gene-Phenotype Associations

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

Kallmann syndrome 5 Gene Set

From ClinVar Gene-Phenotype Associations

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

Kallmann syndrome 6 Gene Set

From ClinVar Gene-Phenotype Associations

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

Yunis Varon syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

Cowden syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

Mulibrey nanism syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

Ohdo syndrome, X-linked Gene Set

From ClinVar Gene-Phenotype Associations

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

Nephrotic syndrome, idiopathic, steroid-resistant Gene Set

From ClinVar Gene-Phenotype Associations

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

Townes-Brocks-branchiootorenal-like syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

SeSAME syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

Odontotrichomelic syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

Atrioventricular septal defect, partial, with heterotaxy syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

Meckel syndrome, type 6 Gene Set

From ClinVar Gene-Phenotype Associations

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

Infantile liver failure syndrome 1 Gene Set

From ClinVar Gene-Phenotype Associations

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

Infantile liver failure syndrome 2 Gene Set

From ClinVar Gene-Phenotype Associations

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

Lowe syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

Ehlers-Danlos syndrome, type 7B Gene Set

From ClinVar Gene-Phenotype Associations

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

Ehlers-Danlos syndrome, musculocontractural type 2 Gene Set

From ClinVar Gene-Phenotype Associations

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

Multiple congenital anomalies-hypotonia-seizures syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

Rett syndrome, congenital variant Gene Set

From ClinVar Gene-Phenotype Associations

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

Van Maldergem syndrome 2 Gene Set

From ClinVar Gene-Phenotype Associations

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

Robinow syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

Bone marrow failure syndrome 2 Gene Set

From ClinVar Gene-Phenotype Associations

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

Orofaciodigital syndrome 6 Gene Set

From ClinVar Gene-Phenotype Associations

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

Orofaciodigital syndrome 5 Gene Set

From ClinVar Gene-Phenotype Associations

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

Distichiasis-lymphedema syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

Townes syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

Neu-Laxova syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

Winchester syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

Unverricht-Lundborg syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

Verheij syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

Rapp-Hodgkin ectodermal dysplasia syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

Allan-Herndon-Dudley syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

Advanced sleep phase syndrome, familial, 2 Gene Set

From ClinVar Gene-Phenotype Associations

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

Sick sinus syndrome 1, autosomal recessive Gene Set

From ClinVar Gene-Phenotype Associations

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

Arterial tortuosity syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

Juvenile polyposis syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

Papillon-Lefèvre syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

Brown-vialetto-van laere syndrome 2 Gene Set

From ClinVar Gene-Phenotype Associations

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

Microcephaly, epilepsy, and diabetes syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

Peters plus syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

Ulnar-mammary syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

Insulin-dependent diabetes mellitus secretory diarrhea syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

Zunich neuroectodermal syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

Beckwith-Wiedemann syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

Van Maldergem Wetzburger Verloes syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

Sotos' syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

Dyggve-Melchior-Clausen syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

Baraitser-Winter Syndrome 2 Gene Set

From ClinVar Gene-Phenotype Associations

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

Three M syndrome 2 Gene Set

From ClinVar Gene-Phenotype Associations

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

Howel-Evans syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

Senior-Loken syndrome 7 Gene Set

From ClinVar Gene-Phenotype Associations

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

Senior-Loken syndrome 4 Gene Set

From ClinVar Gene-Phenotype Associations

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

Senior-Loken syndrome 5 Gene Set

From ClinVar Gene-Phenotype Associations

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

Myasthenic syndrome, congenital, with tubular aggregates 2 Gene Set

From ClinVar Gene-Phenotype Associations

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

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

From ClinVar Gene-Phenotype Associations

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

Rhabdoid tumor predisposition syndrome 2 Gene Set

From ClinVar Gene-Phenotype Associations

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

Finnish congenital nephrotic syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

Tatton-Brown-rahman syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

COACH syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

Short rib polydactyly syndrome 5 Gene Set

From ClinVar Gene-Phenotype Associations

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

Short rib polydactyly syndrome 6 Gene Set

From ClinVar Gene-Phenotype Associations

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

Enhanced s-cone syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

X-linked hydrocephalus syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

Acquired long QT syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

Van der Woude syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

Cornelia de Lange syndrome 1 Gene Set

From ClinVar Gene-Phenotype Associations

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

Sudden infant death syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

Dursun syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

Carpenter syndrome 2 Gene Set

From ClinVar Gene-Phenotype Associations

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

Li-Fraumeni syndrome 1 Gene Set

From ClinVar Gene-Phenotype Associations

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

Haim-Munk syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

Knobloch syndrome 1 Gene Set

From ClinVar Gene-Phenotype Associations

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

Carbohydrate-deficient glycoprotein syndrome type I Gene Set

From ClinVar Gene-Phenotype Associations

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

Advanced sleep phase syndrome, familial Gene Set

From ClinVar Gene-Phenotype Associations

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

Hypoplastic enamel-onycholysis-hypohidrosis syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

Bardet-Biedl syndrome 9 Gene Set

From ClinVar Gene-Phenotype Associations

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

Bardet-Biedl syndrome 8 Gene Set

From ClinVar Gene-Phenotype Associations

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

Bardet-Biedl syndrome 5 Gene Set

From ClinVar Gene-Phenotype Associations

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

Bardet-Biedl syndrome 4 Gene Set

From ClinVar Gene-Phenotype Associations

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

Bardet-Biedl syndrome 7 Gene Set

From ClinVar Gene-Phenotype Associations

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

Bardet-Biedl syndrome 6 Gene Set

From ClinVar Gene-Phenotype Associations

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

Bardet-Biedl syndrome 1 Gene Set

From ClinVar Gene-Phenotype Associations

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

Jarcho-Levin syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

Bardet-Biedl syndrome 2 Gene Set

From ClinVar Gene-Phenotype Associations

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

Cornelia de Lange syndrome 3 Gene Set

From ClinVar Gene-Phenotype Associations

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

Cornelia de Lange syndrome 4 Gene Set

From ClinVar Gene-Phenotype Associations

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

Cornelia de Lange syndrome 5 Gene Set

From ClinVar Gene-Phenotype Associations

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

Autosomal recessive Dejerine-Sottas syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

Kabuki syndrome 2 Gene Set

From ClinVar Gene-Phenotype Associations

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

Hay-Wells syndrome of ectodermal dysplasia Gene Set

From ClinVar Gene-Phenotype Associations

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

Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type) Gene Set

From ClinVar Gene-Phenotype Associations

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

Reynolds syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

Glut1 deficiency syndrome 1, autosomal recessive Gene Set

From ClinVar Gene-Phenotype Associations

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

Joubert syndrome 12/15, digenic Gene Set

From ClinVar Gene-Phenotype Associations

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

Serkal syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

Marinesco-Sjögren syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

Seckel syndrome 8 Gene Set

From ClinVar Gene-Phenotype Associations

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

Seckel syndrome 2 Gene Set

From ClinVar Gene-Phenotype Associations

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

Seckel syndrome 1 Gene Set

From ClinVar Gene-Phenotype Associations

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

Seckel syndrome 7 Gene Set

From ClinVar Gene-Phenotype Associations

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

Neu-laxova syndrome 2 Gene Set

From ClinVar Gene-Phenotype Associations

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

Urofacial syndrome 2 Gene Set

From ClinVar Gene-Phenotype Associations

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

Gordon's syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

Arts syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

Noonan syndrome 8 Gene Set

From ClinVar Gene-Phenotype Associations

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

Noonan syndrome 5 Gene Set

From ClinVar Gene-Phenotype Associations

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

Noonan syndrome 4 Gene Set

From ClinVar Gene-Phenotype Associations

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

Noonan syndrome 7 Gene Set

From ClinVar Gene-Phenotype Associations

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

Noonan syndrome 6 Gene Set

From ClinVar Gene-Phenotype Associations

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

Noonan syndrome 1 Gene Set

From ClinVar Gene-Phenotype Associations

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

Noonan syndrome 3 Gene Set

From ClinVar Gene-Phenotype Associations

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

McKusick Kaufman syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

Autoimmune polyglandular syndrome type 1, autosomal dominant Gene Set

From ClinVar Gene-Phenotype Associations

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

Rubinstein-Taybi syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

FG syndrome 2 Gene Set

From ClinVar Gene-Phenotype Associations

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

Loeys-Dietz syndrome, type 2 Gene Set

From ClinVar Gene-Phenotype Associations

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

Stickler syndrome type 1 Gene Set

From ClinVar Gene-Phenotype Associations

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

Polyglandular autoimmune syndrome, type 1 Gene Set

From ClinVar Gene-Phenotype Associations

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

Bernard-Soulier syndrome, type A1 Gene Set

From ClinVar Gene-Phenotype Associations

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