Name

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.

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; 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; 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; 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.

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.

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.

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.

atypical teratoid rhabdoid tumor Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores

genes co-occuring with the disease atypical teratoid rhabdoid tumor in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

teratoid Gene Set

From GeneRIF Biological Term Annotations

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

Atypical Teratoid Rhabdoid Tumor Gene Set

From DisGeNET Gene-Disease Associations

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

Childhood Atypical Teratoid/Rhabdoid Tumor Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Childhood Atypical Teratoid/Rhabdoid Tumor in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Recurrent Atypical Teratoid/Rhabdoid Tumor Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Recurrent Atypical Teratoid/Rhabdoid Tumor in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Teratoid Tumor, Atypical Gene Set

From DisGeNET Gene-Disease Associations

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

Atypical teratoid rhabdoid tumor Gene Set

From DISEASES Curated Gene-Disease Association Evidence Scores 2025

genes involed in the disease Atypical teratoid rhabdoid tumor from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset.

Atypical teratoid rhabdoid tumor Gene Set

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

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

Atypical teratoid rhabdoid tumor Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Atypical teratoid rhabdoid tumor phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Frontonasal Dysplasia, Severe Microphthalmia, Severe Facial Clefting Syndrome Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Frontonasal Dysplasia, Severe Microphthalmia, Severe Facial Clefting Syndrome in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Frontonasal dysplasia - severe microphthalmia - severe facial clefting syndrome Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Frontonasal dysplasia - severe microphthalmia - severe facial clefting syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Erosive tooth wear (severe vs non-severe) Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Erosive tooth wear (severe vs non-severe) phenotype in GWAS datasets from the GWAS Catalog SNP-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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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, 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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

X-linked severe combined immunodeficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the X-linked severe combined immunodeficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Myopathy, reducing body, X-linked, early-onset, severe Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Myopathy, reducing body, X-linked, early-onset, severe phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Severe combined immunodeficiency due to ADA deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Severe combined immunodeficiency due to ADA deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Hypertelorism, severe, with midface prominence, myopia, mental retardation, and bone fragility Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Hypertelorism, severe, with midface prominence, myopia, mental retardation, and bone fragility phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Immunodeficiency 18, severe combined immunodeficiency variant Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Immunodeficiency 18, severe combined immunodeficiency variant phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Hyperparathyroidism, neonatal severe Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Hyperparathyroidism, neonatal severe phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Severe congenital neutropenia Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Severe congenital neutropenia phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Severe autosomal recessive muscular dystrophy of childhood - North African type Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Severe autosomal recessive muscular dystrophy of childhood - North African type phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Severe congenital neutropenia 3, autosomal recessive Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Severe congenital neutropenia 3, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-negative Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-negative phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Severe congenital neutropenia X-linked Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Severe congenital neutropenia X-linked phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Ulna and fibula absence of with severe limb deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Ulna and fibula absence of with severe limb deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Severe X-linked myotubular myopathy Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Severe X-linked myotubular myopathy phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Alpha/beta T-cell lymphopenia with gamma/delta T-cell expansion, severe cytomegalovirus infection, and autoimmunity Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Alpha/beta T-cell lymphopenia with gamma/delta T-cell expansion, severe cytomegalovirus infection, and autoimmunity phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Severe congenital neutropenia 6, autosomal recessive Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Severe congenital neutropenia 6, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Severe combined immunodeficiency, atypical Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Severe combined immunodeficiency, atypical phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE I, SEVERE Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE I, SEVERE phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

MUCOPOLYSACCHARIDOSIS, TYPE VI, SEVERE Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the MUCOPOLYSACCHARIDOSIS, TYPE VI, SEVERE phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Severe combined immunodeficiency disease Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Severe combined immunodeficiency disease phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Severe combined immunodeficiency with sensitivity to ionizing radiation Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Severe combined immunodeficiency with sensitivity to ionizing radiation phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Severe congenital neutropenia autosomal dominant Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Severe congenital neutropenia autosomal dominant phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Severe congenital neutropenia 2, autosomal dominant Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Severe congenital neutropenia 2, autosomal dominant phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Severe congenital neutropenia 4, autosomal recessive Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Severe congenital neutropenia 4, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Severe myoclonic epilepsy in infancy Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Severe myoclonic epilepsy in infancy phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Retinal dystrophy, early-onset severe Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Retinal dystrophy, early-onset severe phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Obesity, severe, due to leptin deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Obesity, severe, due to leptin deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IC, SEVERE Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IC, SEVERE phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Sialic acid storage disease, severe infantile type Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Sialic acid storage disease, severe infantile type phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, NK Cell-Negative Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, NK Cell-Negative from the curated CTD Gene-Disease Associations dataset.

Severe Combined Immunodeficiency with Microcephaly, Growth Retardation, and Sensitivity to Ionizing Radiation Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Severe Combined Immunodeficiency with Microcephaly, Growth Retardation, and Sensitivity to Ionizing Radiation from the curated CTD Gene-Disease Associations dataset.

Hyperparathyroidism, Neonatal Severe Primary Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Hyperparathyroidism, Neonatal Severe Primary from the curated CTD Gene-Disease Associations dataset.

Severe Combined Immunodeficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Severe Combined Immunodeficiency from the curated CTD Gene-Disease Associations dataset.

Severe Dengue Gene Set

From CTD Gene-Disease Associations

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

Neutropenia, Severe Congenital, Autosomal Dominant 2 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Neutropenia, Severe Congenital, Autosomal Dominant 2 from the curated CTD Gene-Disease Associations dataset.

Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, NK Cell-Positive Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, NK Cell-Positive from the curated CTD Gene-Disease Associations dataset.

Severe combined immunodeficiency due to adenosine deaminase deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Severe combined immunodeficiency due to adenosine deaminase deficiency from the curated CTD Gene-Disease Associations dataset.

Severe Acute Respiratory Syndrome Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Severe Acute Respiratory Syndrome from the curated CTD Gene-Disease Associations dataset.

Hypertension, Early-Onset, Autosomal Dominant, with Severe Exacerbation in Pregnancy Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Hypertension, Early-Onset, Autosomal Dominant, with Severe Exacerbation in Pregnancy from the curated CTD Gene-Disease Associations dataset.

Neutropenia, Severe Congenital, Autosomal Dominant 1 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Neutropenia, Severe Congenital, Autosomal Dominant 1 from the curated CTD Gene-Disease Associations dataset.

HEPATIC FIBROSIS, SEVERE, SUSCEPTIBILITY TO, DUE TO SCHISTOSOMA MANSONI INFECTION Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease HEPATIC FIBROSIS, SEVERE, SUSCEPTIBILITY TO, DUE TO SCHISTOSOMA MANSONI INFECTION from the curated CTD Gene-Disease Associations dataset.

Encephalopathy, Neonatal Severe, Due To Mecp2 Mutations Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Encephalopathy, Neonatal Severe, Due To Mecp2 Mutations from the curated CTD Gene-Disease Associations dataset.

Severe Combined Immunodeficiency, Autosomal Recessive, T Cell Negative, B Cell Positive, NK Cell Positive Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Severe Combined Immunodeficiency, Autosomal Recessive, T Cell Negative, B Cell Positive, NK Cell Positive from the curated CTD Gene-Disease Associations dataset.

Severe combined immunodeficiency with sensitivity to ionizing radiation Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Severe combined immunodeficiency with sensitivity to ionizing radiation from the curated CTD Gene-Disease Associations dataset.

Neutropenia, Severe Congenital, X-Linked Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Neutropenia, Severe Congenital, X-Linked from the curated CTD Gene-Disease Associations dataset.

Alpha/Beta T-Cell Lymphopenia with Gamma/Delta T-Cell Expansion, Severe Cytomegalovirus Infection, and Autoimmunity Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Alpha/Beta T-Cell Lymphopenia with Gamma/Delta T-Cell Expansion, Severe Cytomegalovirus Infection, and Autoimmunity from the curated CTD Gene-Disease Associations dataset.

Mental Retardation, Severe, With Spasticity And Pigmentary Tapetoretinal Degeneration Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Mental Retardation, Severe, With Spasticity And Pigmentary Tapetoretinal Degeneration from the curated CTD Gene-Disease Associations dataset.

Polycystic kidneys, severe infantile with tuberous sclerosis Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Polycystic kidneys, severe infantile with tuberous sclerosis from the curated CTD Gene-Disease Associations dataset.

Myopathy, Reducing Body, X-Linked, Early-Onset, Severe Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Myopathy, Reducing Body, X-Linked, Early-Onset, Severe from the curated CTD Gene-Disease Associations dataset.

Neutropenia, Severe Congenital, Autosomal Recessive 3 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Neutropenia, Severe Congenital, Autosomal Recessive 3 from the curated CTD Gene-Disease Associations dataset.

Neutropenia, Severe Congenital, Autosomal Recessive 4 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Neutropenia, Severe Congenital, Autosomal Recessive 4 from the curated CTD Gene-Disease Associations dataset.

severe combined immunodeficiency Gene Set

From DISEASES Curated Gene-Disease Association Evidence Scores

genes involed in the disease severe combined immunodeficiency from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.

severe congenital neutropenia Gene Set

From DISEASES Curated Gene-Disease Association Evidence Scores

genes involed in the disease severe congenital neutropenia from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.

severe acute respiratory syndrome Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores

genes co-occuring with the disease severe acute respiratory syndrome in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

severe congenital neutropenia Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores

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

severe nonproliferative diabetic retinopathy Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores

genes co-occuring with the disease severe nonproliferative diabetic retinopathy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

severe combined immunodeficiency Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores

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

severe pre-eclampsia Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores

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

severe type iii hyperlipoproteinemia Gene Set

From GAD Gene-Disease Associations

genes associated with the disease severe type iii hyperlipoproteinemia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

hyper-ige syndrome and severe eczema. atopy Gene Set

From GAD Gene-Disease Associations

genes associated with the disease hyper-ige syndrome and severe eczema. atopy in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

severe acute respiratory syndrome Gene Set

From GAD Gene-Disease Associations

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

severe trauma. mortality Gene Set

From GAD Gene-Disease Associations

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

severe childhood thrombosis Gene Set

From GAD Gene-Disease Associations

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

sars (severe acute respiratory syndrome) Gene Set

From GAD Gene-Disease Associations

genes associated with the disease sars (severe acute respiratory syndrome) in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

hyper-ige syndrome. severe eczema. atopy Gene Set

From GAD Gene-Disease Associations

genes associated with the disease hyper-ige syndrome. severe eczema. atopy in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

severe desmoid phenotype Gene Set

From GAD Gene-Disease Associations

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

mild and severe substance abuse Gene Set

From GAD Gene-Disease Associations

genes associated with the disease mild and severe substance abuse in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

severe malaria Gene Set

From GAD Gene-Disease Associations

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

communicable diseases; severe acute respiratory syndrome Gene Set

From GAD Gene-Disease Associations

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

anoxemia; anoxia; pneumonia, viral; severe acute respiratory syndrome Gene Set

From GAD Gene-Disease Associations

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

severe acute radiotherapy side effects Gene Set

From GAD Gene-Disease Associations

genes associated with the disease severe acute radiotherapy side effects in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

severe hyperkinetic disorders Gene Set

From GAD Gene-Disease Associations

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

severe sepsis in blunt trauma Gene Set

From GAD Gene-Disease Associations

genes associated with the disease severe sepsis in blunt trauma 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.

lymphopenia; scid; severe combined immunodeficiency Gene Set

From GAD Gene-Disease Associations

genes associated with the disease lymphopenia; scid; severe combined immunodeficiency in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

severe ulcerative colitis Gene Set

From GAD Gene-Disease Associations

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

severe sepsis Gene Set

From GAD Gene-Disease Associations

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

bone necrosis; osteonecrosis; severe acute respiratory syndrome Gene Set

From GAD Gene-Disease Associations

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

severe chronic neutropenia Gene Set

From GAD Gene-Disease Associations

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

x-linked severe combined immunodeficiency Gene Set

From GAD Gene-Disease Associations

genes associated with the disease x-linked severe combined immunodeficiency in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

severe rsv bronchiolitis Gene Set

From GAD Gene-Disease Associations

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

outcome after severe injury Gene Set

From GAD Gene-Disease Associations

genes associated with the disease outcome after severe injury in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

femur head necrosis; pulmonary fibrosis; severe acute respiratory syndrome Gene Set

From GAD Gene-Disease Associations

genes associated with the disease femur head necrosis; pulmonary fibrosis; severe acute respiratory syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

severe sepsis after trauma Gene Set

From GAD Gene-Disease Associations

genes associated with the disease severe sepsis after trauma in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

immunologic deficiency syndromes; severe combined immunodeficiency Gene Set

From GAD Gene-Disease Associations

genes associated with the disease immunologic deficiency syndromes; severe combined immunodeficiency in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

severe photoaging of facial skin Gene Set

From GAD Gene-Disease Associations

genes associated with the disease severe photoaging of facial skin in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

severe Gene Set

From GeneRIF Biological Term Annotations

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

Severe acute respiratory syndrome (SARS)_Peripheral blood mononuclear cell_GSE1739 Gene Set

From GEO Signatures of Differentially Expressed Genes for Diseases

genes differentially expressed during Severe acute respiratory syndrome (SARS)_Peripheral blood mononuclear cell_GSE1739 disease perturbation from the GEO Signatures of Differentially Expressed Genes for Diseases dataset.

SCID - Severe combined immunodeficiency_Lung Tissue_GSE3414 Gene Set

From GEO Signatures of Differentially Expressed Genes for Diseases

genes differentially expressed during SCID - Severe combined immunodeficiency_Lung Tissue_GSE3414 disease perturbation from the GEO Signatures of Differentially Expressed Genes for Diseases dataset.

Treatment response for severe sepsis Gene Set

From GWAS Catalog SNP-Phenotype Associations

genes associated with the Treatment response for severe sepsis phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations dataset.

Acne (severe) Gene Set

From GWAS Catalog SNP-Phenotype Associations

genes associated with the Acne (severe) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations dataset.

Chronic obstructive pulmonary disease (severe) Gene Set

From GWAS Catalog SNP-Phenotype Associations

genes associated with the Chronic obstructive pulmonary disease (severe) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations dataset.

Myopia (severe) Gene Set

From GWAS Catalog SNP-Phenotype Associations

genes associated with the Myopia (severe) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations dataset.

Chronic obstructive pulmonary disease (moderate to severe) Gene Set

From GWAS Catalog SNP-Phenotype Associations

genes associated with the Chronic obstructive pulmonary disease (moderate to severe) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations dataset.

Asthma (childhood, severe) Gene Set

From GWAS Catalog SNP-Phenotype Associations

genes associated with the Asthma (childhood, severe) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations dataset.

severe osteoporosis Gene Set

From HPO Gene-Disease Associations

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

severe platyspondyly Gene Set

From HPO Gene-Disease Associations

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

severe photosensitivity Gene Set

From HPO Gene-Disease Associations

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

severe hydrops fetalis Gene Set

From HPO Gene-Disease Associations

genes associated with the severe hydrops fetalis phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

severe carpal ossification delay Gene Set

From HPO Gene-Disease Associations

genes associated with the severe carpal ossification delay phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

severe lactic acidosis Gene Set

From HPO Gene-Disease Associations

genes associated with the severe lactic acidosis phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

severe t-cell immunodeficiency Gene Set

From HPO Gene-Disease Associations

genes associated with the severe t-cell immunodeficiency phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

severe combined immunodeficiency Gene Set

From HPO Gene-Disease Associations

genes associated with the severe combined immunodeficiency phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

severe recurrent varicella Gene Set

From HPO Gene-Disease Associations

genes associated with the severe recurrent varicella phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

severe visual impairment Gene Set

From HPO Gene-Disease Associations

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

intellectual disability, severe Gene Set

From HPO Gene-Disease Associations

genes associated with the intellectual disability, severe phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

severe hydrocephalus Gene Set

From HPO Gene-Disease Associations

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

severe failure to thrive Gene Set

From HPO Gene-Disease Associations

genes associated with the severe failure to thrive phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

severe b lymphocytopenia Gene Set

From HPO Gene-Disease Associations

genes associated with the severe b lymphocytopenia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

severe intrauterine growth retardation Gene Set

From HPO Gene-Disease Associations

genes associated with the severe intrauterine growth retardation phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

severe short-limb dwarfism Gene Set

From HPO Gene-Disease Associations

genes associated with the severe short-limb dwarfism phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

severe hearing impairment Gene Set

From HPO Gene-Disease Associations

genes associated with the severe hearing impairment phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

severe muscular hypotonia Gene Set

From HPO Gene-Disease Associations

genes associated with the severe muscular hypotonia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

severe demyelination of the white matter Gene Set

From HPO Gene-Disease Associations

genes associated with the severe demyelination of the white matter phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

severe sensorineural hearing impairment Gene Set

From HPO Gene-Disease Associations

genes associated with the severe sensorineural hearing impairment phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

severe t lymphocytopenia Gene Set

From HPO Gene-Disease Associations

genes associated with the severe t lymphocytopenia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

severe myopia Gene Set

From HPO Gene-Disease Associations

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

severe limb shortening Gene Set

From HPO Gene-Disease Associations

genes associated with the severe limb shortening phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

severe short stature Gene Set

From HPO Gene-Disease Associations

genes associated with the severe short stature phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

severe periodontitis Gene Set

From HPO Gene-Disease Associations

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

severe postnatal growth retardation Gene Set

From HPO Gene-Disease Associations

genes associated with the severe postnatal growth retardation phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

severe global developmental delay Gene Set

From HPO Gene-Disease Associations

genes associated with the severe global developmental delay phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Severe Acute Respiratory Syndrome Gene Set

From HuGE Navigator Gene-Phenotype Associations

genes associated with the Severe Acute Respiratory Syndrome phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset.

Severe Combined Immunodeficiency Gene Set

From HuGE Navigator Gene-Phenotype Associations

genes associated with the Severe Combined Immunodeficiency phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset.

mental retardation, severe, with spasticity and tapetoretinal degeneration Gene Set

From OMIM Gene-Disease Associations

genes associated with the mental retardation, severe, with spasticity and tapetoretinal degeneration phenotype from the curated OMIM Gene-Disease Associations dataset.

severe combined immunodeficiency due to il2 deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the severe combined immunodeficiency due to il2 deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

retinal dystrophy, early-onset severe Gene Set

From OMIM Gene-Disease Associations

genes associated with the retinal dystrophy, early-onset severe phenotype from the curated OMIM Gene-Disease Associations dataset.

ulna and fibula, absence of, with severe limb deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the ulna and fibula, absence of, with severe limb deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

insulin resistance, severe, digenic Gene Set

From OMIM Gene-Disease Associations

genes associated with the insulin resistance, severe, digenic phenotype from the curated OMIM Gene-Disease Associations dataset.

neutropenia, severe congenital 1, autosomal dominant Gene Set

From OMIM Gene-Disease Associations

genes associated with the neutropenia, severe congenital 1, autosomal dominant phenotype from the curated OMIM Gene-Disease Associations dataset.

{obesity, severe, susceptibility to, bmiq9} Gene Set

From OMIM Gene-Disease Associations

genes associated with the {obesity, severe, susceptibility to, bmiq9} phenotype from the curated OMIM Gene-Disease Associations dataset.

neutropenia, severe congenital 3, autosomal recessive Gene Set

From OMIM Gene-Disease Associations

genes associated with the neutropenia, severe congenital 3, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.

severe combined immunodeficiency, t cell-negative, b-cell/natural killer-cell positive Gene Set

From OMIM Gene-Disease Associations

genes associated with the severe combined immunodeficiency, t cell-negative, b-cell/natural killer-cell positive phenotype from the curated OMIM Gene-Disease Associations dataset.

severe combined immunodeficiency due to ada deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the severe combined immunodeficiency due to ada deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

neutropenia, severe congenital, x-linked Gene Set

From OMIM Gene-Disease Associations

genes associated with the neutropenia, severe congenital, x-linked phenotype from the curated OMIM Gene-Disease Associations dataset.

neutropenia, severe congenital, 6, autosomal recessive Gene Set

From OMIM Gene-Disease Associations

genes associated with the neutropenia, severe congenital, 6, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.

encephalopathy, neonatal severe Gene Set

From OMIM Gene-Disease Associations

genes associated with the encephalopathy, neonatal severe phenotype from the curated OMIM Gene-Disease Associations dataset.

{obesity, severe, and type ii diabetes} Gene Set

From OMIM Gene-Disease Associations

genes associated with the {obesity, severe, and type ii diabetes} phenotype from the curated OMIM Gene-Disease Associations dataset.

neutropenia, severe congenital, 5, autosomal recessive Gene Set

From OMIM Gene-Disease Associations

genes associated with the neutropenia, severe congenital, 5, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.

obesity, severe Gene Set

From OMIM Gene-Disease Associations

genes associated with the obesity, severe phenotype from the curated OMIM Gene-Disease Associations dataset.

severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation Gene Set

From OMIM Gene-Disease Associations

genes associated with the severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation phenotype from the curated OMIM Gene-Disease Associations dataset.

{influenza, severe, susceptibility to} Gene Set

From OMIM Gene-Disease Associations

genes associated with the {influenza, severe, susceptibility to} phenotype from the curated OMIM Gene-Disease Associations dataset.

severe combined immunodeficiency, b cell-negative Gene Set

From OMIM Gene-Disease Associations

genes associated with the severe combined immunodeficiency, b cell-negative phenotype from the curated OMIM Gene-Disease Associations dataset.

severe combined immunodeficiency, athabascan type Gene Set

From OMIM Gene-Disease Associations

genes associated with the severe combined immunodeficiency, athabascan type phenotype from the curated OMIM Gene-Disease Associations dataset.

polycystic kidney disease, infantile severe, with tuberous sclerosis Gene Set

From OMIM Gene-Disease Associations

genes associated with the polycystic kidney disease, infantile severe, with tuberous sclerosis phenotype from the curated OMIM Gene-Disease Associations dataset.

neutropenia, severe congenital 4, autosomal recessive Gene Set

From OMIM Gene-Disease Associations

genes associated with the neutropenia, severe congenital 4, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.

pulmonary disease, chronic obstructive, severe early-onset Gene Set

From OMIM Gene-Disease Associations

genes associated with the pulmonary disease, chronic obstructive, severe early-onset phenotype from the curated OMIM Gene-Disease Associations dataset.

alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity Gene Set

From OMIM Gene-Disease Associations

genes associated with the alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity phenotype from the curated OMIM Gene-Disease Associations dataset.

severe combined immunodeficiency, t-cell negative, b-cell/natural killer cell-positive type Gene Set

From OMIM Gene-Disease Associations

genes associated with the severe combined immunodeficiency, t-cell negative, b-cell/natural killer cell-positive type phenotype from the curated OMIM Gene-Disease Associations dataset.

{malaria, severe, susceptibility to} Gene Set

From OMIM Gene-Disease Associations

genes associated with the {malaria, severe, susceptibility to} phenotype from the curated OMIM Gene-Disease Associations dataset.

{malaria, severe, resistance to} Gene Set

From OMIM Gene-Disease Associations

genes associated with the {malaria, severe, resistance to} phenotype from the curated OMIM Gene-Disease Associations dataset.

myopathy, reducing body, x-linked, severe early-onset Gene Set

From OMIM Gene-Disease Associations

genes associated with the myopathy, reducing body, x-linked, severe early-onset phenotype from the curated OMIM Gene-Disease Associations dataset.

severe combined immunodeficiency, x-linked Gene Set

From OMIM Gene-Disease Associations

genes associated with the severe combined immunodeficiency, x-linked phenotype from the curated OMIM Gene-Disease Associations dataset.

neutropenia, severe congenital 2, autosomal dominant Gene Set

From OMIM Gene-Disease Associations

genes associated with the neutropenia, severe congenital 2, autosomal dominant phenotype from the curated OMIM Gene-Disease Associations dataset.

Severe Acute Respiratory Syndrome Gene Set

From DisGeNET Gene-Disease Associations

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

Severe Visual Impairment Gene Set

From DisGeNET Gene-Disease Associations

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

Mental Disorders, Severe Gene Set

From DisGeNET Gene-Disease Associations

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

Severe Combined Immunodeficiency Gene Set

From DisGeNET Gene-Disease Associations

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

Severe Hypoglycaemia Gene Set

From DisGeNET Gene-Disease Associations

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

Severe Intellectual Disability Gene Set

From DisGeNET Gene-Disease Associations

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

Severe Epstein Barr Virus Infection Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Severe Epstein Barr Virus Infection in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Severe Hereditary Factor Viii Deficiency Disease Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Severe Hereditary Factor Viii Deficiency Disease in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Severe Sepsis Gene Set

From DisGeNET Gene-Disease Associations

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

Severe Sensorineural Hearing Impairment Gene Set

From DisGeNET Gene-Disease Associations

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

Severe Myopia Gene Set

From DisGeNET Gene-Disease Associations

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

Infantile Severe Myoclonic Epilepsy Gene Set

From DisGeNET Gene-Disease Associations

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

Severe Dementia Gene Set

From DisGeNET Gene-Disease Associations

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

Severe Hypoxic Ischemic Encephalopathy Gene Set

From DisGeNET Gene-Disease Associations

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

Severe Dengue Gene Set

From DisGeNET Gene-Disease Associations

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

Severe Depression Gene Set

From DisGeNET Gene-Disease Associations

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

Severe Chronic Obstructive Pulmonary Disease Gene Set

From DisGeNET Gene-Disease Associations

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

Severe Periodontitis Gene Set

From DisGeNET Gene-Disease Associations

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

Autism, Severe Gene Set

From DisGeNET Gene-Disease Associations

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

Severe Acute Malnutrition Gene Set

From DisGeNET Gene-Disease Associations

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

Severe Aplastic Anemia Gene Set

From DisGeNET Gene-Disease Associations

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

Severe Intellectual Disability And Progressive Spastic Paraplegia Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Severe Intellectual Disability And Progressive Spastic Paraplegia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Severe Congenital Microcephaly Gene Set

From DisGeNET Gene-Disease Associations

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

Severe Expressive Language Delay Gene Set

From DisGeNET Gene-Disease Associations

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

Mucopolysaccharidosis, Type Vi, Severe Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Mucopolysaccharidosis, Type Vi, Severe in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Severe Malnutrition Gene Set

From DisGeNET Gene-Disease Associations

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

Severe Nonproliferative Diabetic Retinopathy Gene Set

From DisGeNET Gene-Disease Associations

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

Severe Alpha Thalassemia Gene Set

From DisGeNET Gene-Disease Associations

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

Severe Autosomal Recessive Muscular Dystrophy Of Childhood - North African Type (Disorder) Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Severe Autosomal Recessive Muscular Dystrophy Of Childhood - North African Type (Disorder) in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Severe Fever With Thrombocytopenia Syndrome Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Severe Fever With Thrombocytopenia Syndrome in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Severe Alcohol Dependence Gene Set

From DisGeNET Gene-Disease Associations

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

Severe Bronchopulmonary Dysplasia Gene Set

From DisGeNET Gene-Disease Associations

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

Severe Persistent Asthma Gene Set

From DisGeNET Gene-Disease Associations

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

Severe Acute Respiratory Infection Gene Set

From DisGeNET Gene-Disease Associations

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

Severe Asthma With Fungal Sensitisation Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Severe Asthma With Fungal Sensitisation in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Severe Generalized Recessive Dystrophic Epidermolysis Bullosa Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Severe Generalized Recessive Dystrophic Epidermolysis Bullosa in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Acute Severe Refractory Exacerbation Of Asthma Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Acute Severe Refractory Exacerbation Of Asthma in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Granulocytopenia Severe Gene Set

From DisGeNET Gene-Disease Associations

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

Severe Beta Thalassemia Gene Set

From DisGeNET Gene-Disease Associations

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

Severe Pediatric Obstructive Sleep Apnea Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Severe Pediatric Obstructive Sleep Apnea in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Varicella, Severe Recurrent Gene Set

From DisGeNET Gene-Disease Associations

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

Severe Major Depression With Psychotic Features Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Severe Major Depression With Psychotic Features in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Athabaskan Severe Combined Immunodeficiency Gene Set

From DisGeNET Gene-Disease Associations

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

Severe Recurrent Major Depression Gene Set

From DisGeNET Gene-Disease Associations

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

Severe Childhood Autosomal Recessive Muscular Dystrophy Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Severe Childhood Autosomal Recessive Muscular Dystrophy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Severe [Duchenne] Muscular Dystrophy Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Severe [Duchenne] Muscular Dystrophy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Severe Dermatitis, Multiple Allergies, Metabolic Wasting Syndrome Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Severe Dermatitis, Multiple Allergies, Metabolic Wasting Syndrome in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Severe Hypothyroidism Gene Set

From DisGeNET Gene-Disease Associations

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

Severe Receptive Language Delay Gene Set

From DisGeNET Gene-Disease Associations

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

Reaction To Severe Stress, And Adjustment Disorders Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Reaction To Severe Stress, And Adjustment Disorders in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Copd, Severe Early-Onset Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Copd, Severe Early-Onset in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Severe Short-Limb Dwarfism Gene Set

From DisGeNET Gene-Disease Associations

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

Severe T-Cell Immunodeficiency Gene Set

From DisGeNET Gene-Disease Associations

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

Galactose Epimerase Deficiency, Severe Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Galactose Epimerase Deficiency, Severe in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Greig Cephalopolysyndactyly Syndrome, Severe Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Greig Cephalopolysyndactyly Syndrome, Severe in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Severe Dehydration Gene Set

From DisGeNET Gene-Disease Associations

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

Severe Left Ventricular Systolic Dysfunction Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Severe Left Ventricular Systolic Dysfunction in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Costello Syndrome, Severe Gene Set

From DisGeNET Gene-Disease Associations

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

Hunter'S Syndrome, Severe Form Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Hunter'S Syndrome, Severe Form in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Growth Restriction, Severe, With Distinctive Facies Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Growth Restriction, Severe, With Distinctive Facies in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Severe Neonatal Lactic Acidosis Due To Nfs1-Isd11 Complex Deficiency Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Severe Neonatal Lactic Acidosis Due To Nfs1-Isd11 Complex Deficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Severe Early-Onset Axonal Neuropathy Due To Mitofusin 2 Deficiency Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Severe Early-Onset Axonal Neuropathy Due To Mitofusin 2 Deficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Opioid Use Disorder, Severe Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Opioid Use Disorder, Severe in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Polycystic Kidneys, Severe Infantile With Tuberous Sclerosis Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Polycystic Kidneys, Severe Infantile With Tuberous Sclerosis in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Alpha/Beta T-Cell Lymphopenia With Gamma/Delta T-Cell Expansion, Severe Cytomegalovirus Infection, And Autoimmunity Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Alpha/Beta T-Cell Lymphopenia With Gamma/Delta T-Cell Expansion, Severe Cytomegalovirus Infection, And Autoimmunity in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Severe Early Childhood Onset Retinal Dystrophy Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Severe Early Childhood Onset Retinal Dystrophy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Laryngospasm, Severe Neonatal Episodic Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Laryngospasm, Severe Neonatal Episodic in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Infantile-Onset Mesial Temporal Lobe Epilepsy With Severe Cognitive Regression Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Infantile-Onset Mesial Temporal Lobe Epilepsy With Severe Cognitive Regression in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Severe Global Developmental Delay Gene Set

From DisGeNET Gene-Phenotype Associations

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

Severe Muscular Hypotonia Gene Set

From DisGeNET Gene-Phenotype Associations

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

Severe Diarrhea Gene Set

From DisGeNET Gene-Phenotype Associations

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

Severe B Lymphocytopenia Gene Set

From DisGeNET Gene-Phenotype Associations

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

Severe Psychomotor Retardation Gene Set

From DisGeNET Gene-Phenotype Associations

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

Severe Dry Skin Gene Set

From DisGeNET Gene-Phenotype Associations

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

Severe Congenital Neutropenia Gene Set

From DisGeNET Gene-Phenotype Associations

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

Severe Cutaneous Adverse Reactions (Smq) Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Severe Cutaneous Adverse Reactions (Smq) in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Early Severe Fetal Akinesia Sequence Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Early Severe Fetal Akinesia Sequence in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Severe Postnatal Growth Retardation Gene Set

From DisGeNET Gene-Phenotype Associations

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

Severe Failure To Thrive Gene Set

From DisGeNET Gene-Phenotype Associations

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

Severe Photosensitivity Gene Set

From DisGeNET Gene-Phenotype Associations

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

Severe Hearing Loss Gene Set

From DisGeNET Gene-Phenotype Associations

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

Severe Intrauterine Growth Retardation Gene Set

From DisGeNET Gene-Phenotype Associations

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

Severe Generalized Osteoporosis Gene Set

From DisGeNET Gene-Phenotype Associations

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

Severe Limb Shortening Gene Set

From DisGeNET Gene-Phenotype Associations

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

Severe Platyspondyly Gene Set

From DisGeNET Gene-Phenotype Associations

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

Headache Severe Gene Set

From DisGeNET Gene-Phenotype Associations

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

Severe Lactic Acidosis Gene Set

From DisGeNET Gene-Phenotype Associations

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

Severe Speech Delay Gene Set

From DisGeNET Gene-Phenotype Associations

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

Severe Achondrodysplasia With Developmental Delay And Acanthosis Nigricans Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Severe Achondrodysplasia With Developmental Delay And Acanthosis Nigricans in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Severe Back Pain Gene Set

From DisGeNET Gene-Phenotype Associations

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

Severe Hydrocephalus Gene Set

From DisGeNET Gene-Phenotype Associations

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

Influenza, Severe, Susceptibility To Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Influenza, Severe, Susceptibility To in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Severe Demyelination Of The White Matter Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Severe Demyelination Of The White Matter in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Severe Hydrops Fetalis Gene Set

From DisGeNET Gene-Phenotype Associations

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

Severe Gastroesophageal Reflux Gene Set

From DisGeNET Gene-Phenotype Associations

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

Severe Feeding Problems Gene Set

From DisGeNET Gene-Phenotype Associations

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

Severe Carpal Ossification Delay Gene Set

From DisGeNET Gene-Phenotype Associations

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

Severe congenital neutropenia type 4 (G6PC3) Gene Set

From Reactome Pathways 2024

proteins participating in the Severe congenital neutropenia type 4 (G6PC3) pathway from the Reactome Pathways 2024 dataset.

Severe combined immunodeficiency Gene Set

From DISEASES Curated Gene-Disease Association Evidence Scores 2025

genes involed in the disease Severe combined immunodeficiency from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset.

Severe congenital encephalopathy due to MECP2 mutation Gene Set

From DISEASES Curated Gene-Disease Association Evidence Scores 2025

genes involed in the disease Severe congenital encephalopathy due to MECP2 mutation from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset.

Severe congenital neutropenia Gene Set

From DISEASES Curated Gene-Disease Association Evidence Scores 2025

genes involed in the disease Severe congenital neutropenia from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset.

X-linked severe combined immunodeficiency Gene Set

From DISEASES Curated Gene-Disease Association Evidence Scores 2025

genes involed in the disease X-linked severe combined immunodeficiency from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset.

Severe combined immunodeficiency Gene Set

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

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

Severe COVID-19 Gene Set

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

genes co-occuring with the disease Severe COVID-19 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Severe acute respiratory syndrome Gene Set

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

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

X-linked severe combined immunodeficiency Gene Set

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

genes co-occuring with the disease X-linked severe combined immunodeficiency in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Severe congenital neutropenia Gene Set

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

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

Severe pre-eclampsia Gene Set

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

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

Severe congenital neutropenia 8 Gene Set

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

genes co-occuring with the disease Severe congenital neutropenia 8 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Intellectual disability-severe speech delay-mild dysmorphism syndrome Gene Set

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

genes co-occuring with the disease Intellectual disability-severe speech delay-mild dysmorphism syndrome in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

non-severe COVID-19 Gene Set

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

genes co-occuring with the disease non-severe COVID-19 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

adult-onset severe asthma Gene Set

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

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

Severe combined immunodeficiency with sensitivity to ionizing radiation Gene Set

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

genes co-occuring with the disease Severe combined immunodeficiency with sensitivity to ionizing radiation in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Severe congenital neutropenia 3 Gene Set

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

genes co-occuring with the disease Severe congenital neutropenia 3 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

X-linked severe congenital neutropenia Gene Set

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

genes co-occuring with the disease X-linked severe congenital neutropenia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Severe nonproliferative diabetic retinopathy Gene Set

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

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

Autosomal dominant severe congenital neutropenia Gene Set

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

genes co-occuring with the disease Autosomal dominant severe congenital neutropenia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Persistent severe asthma Gene Set

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

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

Severe congenital neutropenia 5 Gene Set

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

genes co-occuring with the disease Severe congenital neutropenia 5 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Severe congenital neutropenia 4 Gene Set

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

genes co-occuring with the disease Severe congenital neutropenia 4 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Severe congenital neutropenia 2 Gene Set

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

genes co-occuring with the disease Severe congenital neutropenia 2 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Severe congenital neutropenia 7 Gene Set

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

genes co-occuring with the disease Severe congenital neutropenia 7 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Severe congenital encephalopathy due to MECP2 mutation Gene Set

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

genes co-occuring with the disease Severe congenital encephalopathy due to MECP2 mutation in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Severe congenital neutropenia 1 Gene Set

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

genes co-occuring with the disease Severe congenital neutropenia 1 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Severe congenital neutropenia 6 Gene Set

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

genes co-occuring with the disease Severe congenital neutropenia 6 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Susceptibility to severe coronavirus disease Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Susceptibility to severe coronavirus disease phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Severe combined immunodeficiency disease Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Severe combined immunodeficiency disease phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Severe hydrocephalus Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Severe hydrocephalus phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Severe combined immunodeficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Severe combined immunodeficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Early onset and severe retinal dystrophy Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Early onset and severe retinal dystrophy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Severe neurodegenerative syndrome Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Severe neurodegenerative syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Severe combined immunodeficiency due to DCLRE1C deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Severe combined immunodeficiency due to DCLRE1C deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Athabaskan severe combined immunodeficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Athabaskan severe combined immunodeficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Severe early-childhood-onset retinal dystrophy Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Severe early-childhood-onset retinal dystrophy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Severe global developmental delay Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Severe global developmental delay phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Severe X-linked myotubular myopathy Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Severe X-linked myotubular myopathy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Severe intellectual deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Severe intellectual deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Neonatal severe primary hyperparathyroidism Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Neonatal severe primary hyperparathyroidism phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

T-B+ severe combined immunodeficiency due to JAK3 deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the T-B+ severe combined immunodeficiency due to JAK3 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

X-linked severe combined immunodeficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the X-linked severe combined immunodeficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

X-linked severe congenital neutropenia Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the X-linked severe congenital neutropenia phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Severe neonatal-onset encephalopathy Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Severe neonatal-onset encephalopathy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Severe myoclonic epilepsy in infancy Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Severe myoclonic epilepsy in infancy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

ZAP70-Related Severe Combined Immunodeficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the ZAP70-Related Severe Combined Immunodeficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Severe achondroplasia-developmental delay-acanthosis nigricans syndrome Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Severe achondroplasia-developmental delay-acanthosis nigricans syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Severe sensorineural hearing impairment Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Severe sensorineural hearing impairment phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Intellectual disability-severe speech delay-mild dysmorphism syndrome Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Intellectual disability-severe speech delay-mild dysmorphism syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Atypical severe combined immunodeficiency due to complete RAG1/2 deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Atypical severe combined immunodeficiency due to complete RAG1/2 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Severe intellectual disability-progressive spastic diplegia syndrome Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Severe intellectual disability-progressive spastic diplegia syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Severe combined immunodeficiency due to CARD11 deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Severe combined immunodeficiency due to CARD11 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Severe congenital neutropenia Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Severe congenital neutropenia phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Severe X-linked mitochondrial encephalomyopathy Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Severe X-linked mitochondrial encephalomyopathy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Severe combined immunodeficiency due to CTPS1 deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Severe combined immunodeficiency due to CTPS1 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Severe underweight in infancy childhood and adolescence Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Severe underweight in infancy childhood and adolescence phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Autosomal recessive severe congenital neutropenia due to CSF3R deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Autosomal recessive severe congenital neutropenia due to CSF3R deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Severe neurodevelopmental delay Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Severe neurodevelopmental delay phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Spastic paraplegia-severe developmental delay-epilepsy syndrome Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Spastic paraplegia-severe developmental delay-epilepsy syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Severe combined immunodeficiency due to CARMIL2 deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Severe combined immunodeficiency due to CARMIL2 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Susceptibility to severe COVID- Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Susceptibility to severe COVID- phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Intermediate severe Salla disease Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Intermediate severe Salla disease phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Severe combined immunodeficiency due to DNA-PKcs deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Severe combined immunodeficiency due to DNA-PKcs deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Severe combined immunodeficiency due to CORO1A deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Severe combined immunodeficiency due to CORO1A deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Severe combined immunodeficiency due to IKK2 deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Severe combined immunodeficiency due to IKK2 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Severe dermatitis-multiple allergies-metabolic wasting syndrome Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Severe dermatitis-multiple allergies-metabolic wasting syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Severe combined immunodeficiency due to LCK deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Severe combined immunodeficiency due to LCK deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Severe muscular hypotonia Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Severe muscular hypotonia phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Severe Gene Set

From ClinVar Gene-Phenotype Associations 2025

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

Severe combined immunodeficiency due to LAT deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Severe combined immunodeficiency due to LAT deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

CV-A6-associated hand, foot, and mouth disease (severe vs mild) Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the CV-A6-associated hand, foot, and mouth disease (severe vs mild) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Severe COVID-19 infection with respiratory failure (analysis I) Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Severe COVID-19 infection with respiratory failure (analysis I) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Severe COVID-19 infection with respiratory failure (analysis II) Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Severe COVID-19 infection with respiratory failure (analysis II) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Statin-induced myopathy (severe) Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Statin-induced myopathy (severe) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Pelvic organ prolapse (moderate/severe) Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Pelvic organ prolapse (moderate/severe) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Severe influenza A (H1N1) infection Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Severe influenza A (H1N1) infection phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Severe malaria Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

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

Cold medicine-related Stevens-Johnson syndrome/toxic epidermal necrolysis (SJS/TEN) with severe ocular complications Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Cold medicine-related Stevens-Johnson syndrome/toxic epidermal necrolysis (SJS/TEN) with severe ocular complications phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Chronic kidney disease (severe chronic kidney disease vs normal kidney function) in type 1 diabetes Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Chronic kidney disease (severe chronic kidney disease vs normal kidney function) in type 1 diabetes phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Severe malaria (adjusted for sickle cell variant rs334) Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Severe malaria (adjusted for sickle cell variant rs334) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Moderate or severe prolonged lymphopenia in dimethyl fumarate-treated relapsing-remitting multiple sclerosis Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Moderate or severe prolonged lymphopenia in dimethyl fumarate-treated relapsing-remitting multiple sclerosis phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Severe aplastic anemia Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Severe aplastic anemia phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Severe aortic features in Marfan syndrome Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Severe aortic features in Marfan syndrome phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Severe skin toxicity response to cetuximab in colorectal cancer Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Severe skin toxicity response to cetuximab in colorectal cancer phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Asthma (moderate or severe) Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Asthma (moderate or severe) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Acne (severe) Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Acne (severe) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Chronic obstructive pulmonary disease (moderate to severe) Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Chronic obstructive pulmonary disease (moderate to severe) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Chronic obstructive pulmonary disease (severe) Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Chronic obstructive pulmonary disease (severe) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Osteoarthritis (hand, severe) Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Osteoarthritis (hand, severe) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Myopia (severe) Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Myopia (severe) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Pharmacokinetics of antiepileptic drugs in severe mental disorder (concentration drug ratio) Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Pharmacokinetics of antiepileptic drugs in severe mental disorder (concentration drug ratio) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Pharmacokinetics of antipsychotic drugs in severe mental disorder (concentration drug ratio) Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Pharmacokinetics of antipsychotic drugs in severe mental disorder (concentration drug ratio) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Pharmacokinetics of olanzapine in severe mental disorder (concentration dose ratio) Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Pharmacokinetics of olanzapine in severe mental disorder (concentration dose ratio) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Cold medicine-related Stevens-Johnson syndrome/toxic epidermal necrolysis (SJS/TEN) with severe mucosal involvement Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Cold medicine-related Stevens-Johnson syndrome/toxic epidermal necrolysis (SJS/TEN) with severe mucosal involvement phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Asthma with severe exacerbations Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Asthma with severe exacerbations phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Severe diabetic retinopathy in type 2 diabetes Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Severe diabetic retinopathy in type 2 diabetes phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Hypospadias (moderate to severe) Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Hypospadias (moderate to severe) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Glucosuria (moderate to severe) Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Glucosuria (moderate to severe) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Hematuria (moderate to severe) Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Hematuria (moderate to severe) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Proteinuria (moderate to severe) Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Proteinuria (moderate to severe) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Ketonuria (moderate to severe) Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Ketonuria (moderate to severe) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Childhood asthma with severe exacerbations Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Childhood asthma with severe exacerbations phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Treatment response for severe sepsis Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Treatment response for severe sepsis phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Adolescent idiopathic scoliosis (severe) Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Adolescent idiopathic scoliosis (severe) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Response to mepolizumab in severe asthma Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Response to mepolizumab in severe asthma phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Thiopurine-induced severe leukopenia in inflammatory bowel disease Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Thiopurine-induced severe leukopenia in inflammatory bowel disease phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Thiopurine-induced acute severe leukopenia in inflammatory bowel disease Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Thiopurine-induced acute severe leukopenia in inflammatory bowel disease phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Thiopurine-induced severe alopecia in inflammatory bowel disease Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Thiopurine-induced severe alopecia in inflammatory bowel disease phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Erosive tooth wear (severe vs none or mild) Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Erosive tooth wear (severe vs none or mild) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Severe progression in rheumatoid arthritis Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Severe progression in rheumatoid arthritis phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Severe bacterial meningitis Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Severe bacterial meningitis phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Severe exacerbations in childhood asthma Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Severe exacerbations in childhood asthma phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Moderate or severe diarrhoea in darapladib-treated cardiovascular disease (time to event) Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Moderate or severe diarrhoea in darapladib-treated cardiovascular disease (time to event) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Severe gingival inflammation Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Severe gingival inflammation phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Severe gastric atrophy Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Severe gastric atrophy phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Severe insulin-deficient type 2 diabetes Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Severe insulin-deficient type 2 diabetes phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Severe insulin-resistant type 2 diabetes Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Severe insulin-resistant type 2 diabetes phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Severe autoimmune type 2 diabetes Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Severe autoimmune type 2 diabetes phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Symptoms in placebo-treated COVID-19 outpatients at risk of severe disease (time to remission) Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Symptoms in placebo-treated COVID-19 outpatients at risk of severe disease (time to remission) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Severe coronary stenosis (young age of onset interaction) Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Severe coronary stenosis (young age of onset interaction) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.