| Name |
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Urogenital Abnormalities Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Urogenital Abnormalities from the curated CTD Gene-Disease Associations dataset. |
urogenital abnormalities Gene SetFrom GAD Gene-Disease Associations genes associated with the disease urogenital abnormalities in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
Urogenital Abnormalities Gene SetFrom HuGE Navigator Gene-Phenotype Associations genes associated with the Urogenital Abnormalities phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset. |
abnormalities, multiple; congenital abnormalities; craniofacial abnormalities; syndrome; translocation, genetic Gene SetFrom GAD Gene-Disease Associations genes associated with the disease abnormalities, multiple; congenital abnormalities; craniofacial abnormalities; syndrome; translocation, genetic in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
abnormalities, multiple; craniofacial abnormalities; mouth abnormalities; pallister-hall syndrome; polydactyly; syndactyly Gene SetFrom GAD Gene-Disease Associations genes associated with the disease abnormalities, multiple; craniofacial abnormalities; mouth abnormalities; pallister-hall syndrome; polydactyly; syndactyly in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
infertility, male; urogenital abnormalities Gene SetFrom GAD Gene-Disease Associations genes associated with the disease infertility, male; urogenital abnormalities in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
urogenital abnormalities; vesico-ureteral reflux Gene SetFrom GAD Gene-Disease Associations genes associated with the disease urogenital abnormalities; vesico-ureteral reflux in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
cystic fibrosis; urogenital abnormalities Gene SetFrom GAD Gene-Disease Associations genes associated with the disease cystic fibrosis; urogenital abnormalities in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
abnormalities, multiple; craniofacial abnormalities Gene SetFrom GAD Gene-Disease Associations genes associated with the disease abnormalities, multiple; craniofacial abnormalities in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
abnormalities, multiple; craniofacial abnormalities; mental retardation; syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease abnormalities, multiple; craniofacial abnormalities; mental retardation; syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
abnormalities, multiple; heart defects, congenital; leopard syndrome; noonan syndrome; skin abnormalities Gene SetFrom GAD Gene-Disease Associations genes associated with the disease abnormalities, multiple; heart defects, congenital; leopard syndrome; noonan syndrome; skin abnormalities in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
abnormalities, multiple; congenital heart defects; craniofacial abnormalities; ectodermal dysplasia; heart defects, congenital; noonan syndrome; syndrome; turner's phenotype, karyotype normal Gene SetFrom GAD Gene-Disease Associations genes associated with the disease abnormalities, multiple; congenital heart defects; craniofacial abnormalities; ectodermal dysplasia; heart defects, congenital; noonan syndrome; syndrome; turner's phenotype, karyotype normal in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
meckel-gruber syndrome; abnormalities, multiple; congenital abnormalities; polydactyly; syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease meckel-gruber syndrome; abnormalities, multiple; congenital abnormalities; polydactyly; syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
Male Urogenital Diseases Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Male Urogenital Diseases from the curated CTD Gene-Disease Associations dataset. |
Urogenital Neoplasms Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Urogenital Neoplasms from the curated CTD Gene-Disease Associations dataset. |
Female Urogenital Diseases Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Female Urogenital Diseases from the curated CTD Gene-Disease Associations dataset. |
autoimmune disease of urogenital tract Gene SetFrom DISEASES Experimental Gene-Disease Association Evidence Scores genes associated with the disease autoimmune disease of urogenital tract in GWAS datasets from the DISEASES Experimental Gene-Disease Assocation Evidence Scores dataset. |
urogenital tuberculosis Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease urogenital tuberculosis in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
autoimmune disease of urogenital tract Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease autoimmune disease of urogenital tract in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
genitourinary neoplasms; urogenital neoplasms Gene SetFrom GAD Gene-Disease Associations genes associated with the disease genitourinary neoplasms; urogenital neoplasms in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
carcinoma, non-small-cell lung; colorectal neoplasms; genitourinary neoplasms; lung neoplasms; neoplasm of lung ; neutropenia; urogenital neoplasms Gene SetFrom GAD Gene-Disease Associations genes associated with the disease carcinoma, non-small-cell lung; colorectal neoplasms; genitourinary neoplasms; lung neoplasms; neoplasm of lung ; neutropenia; urogenital neoplasms in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
rheumatoid arthritis; hiv; rheiter's syndrome; urogenital disorders Gene SetFrom GAD Gene-Disease Associations genes associated with the disease rheumatoid arthritis; hiv; rheiter's syndrome; urogenital disorders in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
abnormal urogenital development Gene SetFrom GAD Gene-Disease Associations genes associated with the disease abnormal urogenital development in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
inflammatory urogenital disease Gene SetFrom GAD Gene-Disease Associations genes associated with the disease inflammatory urogenital disease in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
urogenital Gene SetFrom GeneRIF Biological Term Annotations genes co-occuring with the biological term urogenital in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset. |
EMX2_Deficiency_GDS3173_607_mouse_Embryonic urogenital epithelium - day 10.5 Gene SetFrom GEO Signatures of Differentially Expressed Genes for Gene Perturbations genes differentially expressed following the EMX2_Deficiency_GDS3173_607_mouse_Embryonic urogenital epithelium - day 10.5 gene perturbation from the GEO Signatures of Differentially Expressed Genes for Gene Perturbations dataset. |
urogenital system development Gene SetFrom GO Biological Process Annotations 2015 genes participating in the urogenital system development biological process from the curated GO Biological Process Annotations 2015 dataset. |
autoimmune disease of urogenital tract Gene SetFrom GWASdb SNP-Disease Associations genes associated with the disease autoimmune disease of urogenital tract in GWAS and other genetic association datasets from the GWASdb SNP-Disease Associations dataset. |
urogenital sinus anomaly Gene SetFrom HPO Gene-Disease Associations genes associated with the urogenital sinus anomaly phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
urogenital fistula Gene SetFrom HPO Gene-Disease Associations genes associated with the urogenital fistula phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
Urogenital Neoplasms Gene SetFrom HuGE Navigator Gene-Phenotype Associations genes associated with the Urogenital Neoplasms phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset. |
Male Urogenital Diseases Gene SetFrom HuGE Navigator Gene-Phenotype Associations genes associated with the Male Urogenital Diseases phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset. |
abnormal primitive urogenital sinus morphology Gene SetFrom MPO Gene-Phenotype Associations gene mutations causing the abnormal primitive urogenital sinus morphology phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset. |
abnormal urogenital fold morphology Gene SetFrom MPO Gene-Phenotype Associations gene mutations causing the abnormal urogenital fold morphology phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset. |
urogenital system Gene SetFrom TISSUES Curated Tissue Protein Expression Evidence Scores proteins highly expressed in the tissue urogenital system from the TISSUES Curated Tissue Protein Expression Evidence Scores dataset. |
urogenital system Gene SetFrom TISSUES Experimental Tissue Protein Expression Evidence Scores proteins highly expressed in the tissue urogenital system in proteomics datasets from the TISSUES Experimental Tissue Protein Expression Evidence Scores dataset. |
urogenital system Gene SetFrom TISSUES Text-mining Tissue Protein Expression Evidence Scores proteins co-occuring with the tissue urogenital system in abstracts of biomedical publications from the TISSUES Text-mining Tissue Protein Expression Evidence Scores dataset. |
urogenital ridge Gene SetFrom TISSUES Text-mining Tissue Protein Expression Evidence Scores proteins co-occuring with the tissue urogenital ridge in abstracts of biomedical publications from the TISSUES Text-mining Tissue Protein Expression Evidence Scores dataset. |
Urogenital Sinus Anomaly Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Urogenital Sinus Anomaly in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Urogenital Atrophy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Urogenital Atrophy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Cardiac-Urogenital Syndrome Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Cardiac-Urogenital Syndrome in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
B-Cell Immunodeficiency, Distal Limb Anomalies, And Urogenital Malformations Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease B-Cell Immunodeficiency, Distal Limb Anomalies, And Urogenital Malformations in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
urogenital system development Gene SetFrom GO Biological Process Annotations 2023 genes participating in the urogenital system development biological process from the curated GO Biological Process Annotations 2023 dataset. |
abnormal primitive urogenital sinus morphology Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the abnormal primitive urogenital sinus morphology phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
abnormal urogenital fold morphology Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the abnormal urogenital fold morphology phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
urogenital system development Gene SetFrom GO Biological Process Annotations 2025 genes participating in the urogenital system development biological process from the curated GO Biological Process Annotations 2025 dataset. |
Autoimmune disease of urogenital tract Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Autoimmune disease of urogenital tract in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Urogenital tuberculosis Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Urogenital tuberculosis in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Urogenital system Gene SetFrom TISSUES Curated Tissue Protein Expression Evidence Scores 2025 proteins highly expressed in the tissue Urogenital system from the TISSUES Curated Tissue Protein Expression Evidence Scores 2025 dataset. |
Urogenital system Gene SetFrom TISSUES Experimental Tissue Protein Expression Evidence Scores 2025 proteins highly expressed in the tissue Urogenital system in proteomics datasets from the TISSUES Experimental Tissue Protein Expression Evidence Scores 2025 dataset. |
Urogenital system Gene SetFrom TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025 proteins co-occuring with the tissue Urogenital system in abstracts of biomedical publications from the TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025 dataset. |
Urogenital ridge Gene SetFrom TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025 proteins co-occuring with the tissue Urogenital ridge in abstracts of biomedical publications from the TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025 dataset. |
Cardiac-urogenital syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Cardiac-urogenital syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Retinal dystrophy with inner retinal dysfunction and ganglion cell abnormalities Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Retinal dystrophy with inner retinal dysfunction and ganglion cell abnormalities phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Cutis laxa with severe pulmonary, gastrointestinal, and urinary abnormalities Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Cutis laxa with severe pulmonary, gastrointestinal, and urinary abnormalities phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Nephrotic syndrome, type 5, with or without ocular abnormalities Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Nephrotic syndrome, type 5, with or without ocular abnormalities phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Renal tubular acidosis, proximal, with ocular abnormalities and mental retardation Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Renal tubular acidosis, proximal, with ocular abnormalities and mental retardation phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Short stature, auditory canal atresia, mandibular hypoplasia, skeletal abnormalities Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Short stature, auditory canal atresia, mandibular hypoplasia, skeletal abnormalities phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Immunodeficiency 26 with or without neurologic abnormalities Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Immunodeficiency 26 with or without neurologic abnormalities phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital Abnormalities Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Congenital Abnormalities from the curated CTD Gene-Disease Associations dataset. |
Skin Abnormalities Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Skin Abnormalities from the curated CTD Gene-Disease Associations dataset. |
Abnormalities, Severe Teratoid Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Abnormalities, Severe Teratoid from the curated CTD Gene-Disease Associations dataset. |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities from the curated CTD Gene-Disease Associations dataset. |
Tooth Abnormalities Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Tooth Abnormalities from the curated CTD Gene-Disease Associations dataset. |
Stomatognathic System Abnormalities Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Stomatognathic System Abnormalities from the curated CTD Gene-Disease Associations dataset. |
Eye Abnormalities Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Eye Abnormalities from the curated CTD Gene-Disease Associations dataset. |
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities from the curated CTD Gene-Disease Associations dataset. |
Maxillofacial Abnormalities Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Maxillofacial Abnormalities from the curated CTD Gene-Disease Associations dataset. |
Lymphatic Abnormalities Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Lymphatic Abnormalities from the curated CTD Gene-Disease Associations dataset. |
Jaw Abnormalities Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Jaw Abnormalities from the curated CTD Gene-Disease Associations dataset. |
Respiratory System Abnormalities Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Respiratory System Abnormalities from the curated CTD Gene-Disease Associations dataset. |
Craniofacial Abnormalities Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Craniofacial Abnormalities from the curated CTD Gene-Disease Associations dataset. |
Cardiovascular Abnormalities Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Cardiovascular Abnormalities from the curated CTD Gene-Disease Associations dataset. |
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Mental Retardation Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Mental Retardation from the curated CTD Gene-Disease Associations dataset. |
Mouth Abnormalities Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Mouth Abnormalities from the curated CTD Gene-Disease Associations dataset. |
Abnormalities, Multiple Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Abnormalities, Multiple from the curated CTD Gene-Disease Associations dataset. |
Musculoskeletal Abnormalities Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Musculoskeletal Abnormalities from the curated CTD Gene-Disease Associations dataset. |
Cutis Laxa With Severe Pulmonary, Gastrointestinal, And Urinary Abnormalities Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Cutis Laxa With Severe Pulmonary, Gastrointestinal, And Urinary Abnormalities from the curated CTD Gene-Disease Associations dataset. |
Abnormalities, Drug-Induced Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Abnormalities, Drug-Induced from the curated CTD Gene-Disease Associations dataset. |
Jaw Abnormalities Gene SetFrom dbGAP Gene-Trait Associations genes associated with the trait Jaw Abnormalities in GWAS and other genetic association datasets from the dbGAP Gene-Trait Associations dataset. |
cardiovascular abnormalities Gene SetFrom GAD Gene-Disease Associations genes associated with the disease cardiovascular abnormalities in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
thyroid and neurological abnormalities Gene SetFrom GAD Gene-Disease Associations genes associated with the disease thyroid and neurological abnormalities in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
eye abnormalities Gene SetFrom GAD Gene-Disease Associations genes associated with the disease eye abnormalities in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
abnormalities, multiple; arrhythmias, cardiac; autonomic nervous system diseases; death, sudden; hypoventilation; syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease abnormalities, multiple; arrhythmias, cardiac; autonomic nervous system diseases; death, sudden; hypoventilation; syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
achondroplasia; musculoskeletal abnormalities; osteochondrodysplasias; thanatophoric dysplasia Gene SetFrom GAD Gene-Disease Associations genes associated with the disease achondroplasia; musculoskeletal abnormalities; osteochondrodysplasias; thanatophoric dysplasia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
anophthalmos; coloboma; eye abnormalities; microphthalmos Gene SetFrom GAD Gene-Disease Associations genes associated with the disease anophthalmos; coloboma; eye abnormalities; microphthalmos in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
abnormalities, multiple; aortic aneurysm, thoracic; marfan syndrome; syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease abnormalities, multiple; aortic aneurysm, thoracic; marfan syndrome; syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
abruptio placentae; congenital abnormalities; fetal growth retardation; intrauterine growth retardation; placenta abruptio; pregnancy complications Gene SetFrom GAD Gene-Disease Associations genes associated with the disease abruptio placentae; congenital abnormalities; fetal growth retardation; intrauterine growth retardation; placenta abruptio; pregnancy complications in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
aphakia; eye abnormalities; microphthalmos Gene SetFrom GAD Gene-Disease Associations genes associated with the disease aphakia; eye abnormalities; microphthalmos in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
craniofacial abnormalities; growth disorders; learning disorders; syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease craniofacial abnormalities; growth disorders; learning disorders; syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
cleft lip; cleft palate; congenital abnormalities Gene SetFrom GAD Gene-Disease Associations genes associated with the disease cleft lip; cleft palate; congenital abnormalities in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
birth weight; congenital abnormalities; heart defects, congenital; postoperative complications; syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease birth weight; congenital abnormalities; heart defects, congenital; postoperative complications; syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
cardiovascular abnormalities; heart diseases Gene SetFrom GAD Gene-Disease Associations genes associated with the disease cardiovascular abnormalities; heart diseases in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
abnormalities, drug-induced; epilepsy; prenatal exposure delayed effects Gene SetFrom GAD Gene-Disease Associations genes associated with the disease abnormalities, drug-induced; epilepsy; prenatal exposure delayed effects in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
cardiovascular abnormalities; tetralogy of fallot Gene SetFrom GAD Gene-Disease Associations genes associated with the disease cardiovascular abnormalities; tetralogy of fallot in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
abnormalities, multiple; genetic diseases, inborn; kallmann syndrome; syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease abnormalities, multiple; genetic diseases, inborn; kallmann syndrome; syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
congenital abnormalities; Gene SetFrom GAD Gene-Disease Associations genes associated with the disease congenital abnormalities; in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
abnormalities, multiple; syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease abnormalities, multiple; syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
digestive system abnormalities; hirschsprung disease Gene SetFrom GAD Gene-Disease Associations genes associated with the disease digestive system abnormalities; hirschsprung disease in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
abnormalities, multiple; ectodermal dysplasia; heart defects, congenital; mental retardation; syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease abnormalities, multiple; ectodermal dysplasia; heart defects, congenital; mental retardation; syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
congenital abnormalities; mental retardation Gene SetFrom GAD Gene-Disease Associations genes associated with the disease congenital abnormalities; mental retardation in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
congenital abnormalities Gene SetFrom GAD Gene-Disease Associations genes associated with the disease congenital abnormalities in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
congenital abnormalities; hypothyroidism; thyroid dysgenesis Gene SetFrom GAD Gene-Disease Associations genes associated with the disease congenital abnormalities; hypothyroidism; thyroid dysgenesis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
cleft lip; cleft palate; mouth abnormalities Gene SetFrom GAD Gene-Disease Associations genes associated with the disease cleft lip; cleft palate; mouth abnormalities in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
eye abnormalities; glaucoma, angle-closure Gene SetFrom GAD Gene-Disease Associations genes associated with the disease eye abnormalities; glaucoma, angle-closure in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
jaw abnormalities Gene SetFrom GAD Gene-Disease Associations genes associated with the disease jaw abnormalities in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
abnormalities, multiple; chromosome breakage; facies; growth disorders; syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease abnormalities, multiple; chromosome breakage; facies; growth disorders; syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
cleft lip; cleft palate; tooth abnormalities Gene SetFrom GAD Gene-Disease Associations genes associated with the disease cleft lip; cleft palate; tooth abnormalities in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
abnormalities, drug-induced; cleft lip; cleft palate Gene SetFrom GAD Gene-Disease Associations genes associated with the disease abnormalities, drug-induced; cleft lip; cleft palate in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
abnormalities, multiple; chromosome aberrations; chromosome abnormality; cystic fibrosis; echogenic bowel; fetal diseases Gene SetFrom GAD Gene-Disease Associations genes associated with the disease abnormalities, multiple; chromosome aberrations; chromosome abnormality; cystic fibrosis; echogenic bowel; fetal diseases in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
abnormalities, multiple; coloboma; congenital heart defects; disease models, animal; facial paralysis; heart defects, congenital; syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease abnormalities, multiple; coloboma; congenital heart defects; disease models, animal; facial paralysis; heart defects, congenital; syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
abnormalities Gene SetFrom GeneRIF Biological Term Annotations genes co-occuring with the biological term abnormalities in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset. |
abnormalities of the peripheral arteries Gene SetFrom GWASdb SNP-Phenotype Associations genes associated with the abnormalities of the peripheral arteries phenotype in GWAS datasets from the GWASdb SNP-Phenotype Associations dataset. |
abnormalities of placenta or umbilical cord Gene SetFrom GWASdb SNP-Phenotype Associations genes associated with the abnormalities of placenta or umbilical cord phenotype in GWAS datasets from the GWASdb SNP-Phenotype Associations dataset. |
erectile abnormalities Gene SetFrom GWASdb SNP-Phenotype Associations genes associated with the erectile abnormalities phenotype in GWAS datasets from the GWASdb SNP-Phenotype Associations dataset. |
erectile abnormalities Gene SetFrom HPO Gene-Disease Associations genes associated with the erectile abnormalities phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
diffuse white matter abnormalities Gene SetFrom HPO Gene-Disease Associations genes associated with the diffuse white matter abnormalities phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
ekg: t-wave abnormalities Gene SetFrom HPO Gene-Disease Associations genes associated with the ekg: t-wave abnormalities phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
peripheral retinal pigmentation abnormalities Gene SetFrom HPO Gene-Disease Associations genes associated with the peripheral retinal pigmentation abnormalities phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
emg: myopathic abnormalities Gene SetFrom HPO Gene-Disease Associations genes associated with the emg: myopathic abnormalities phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
abnormalities of the peripheral arteries Gene SetFrom HPO Gene-Disease Associations genes associated with the abnormalities of the peripheral arteries phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
multifocal cerebral white matter abnormalities Gene SetFrom HPO Gene-Disease Associations genes associated with the multifocal cerebral white matter abnormalities phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
abnormalities of placenta or umbilical cord Gene SetFrom HPO Gene-Disease Associations genes associated with the abnormalities of placenta or umbilical cord phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
vitreoretinal abnormalities Gene SetFrom HPO Gene-Disease Associations genes associated with the vitreoretinal abnormalities phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
white mater abnormalities in the posterior periventricular region Gene SetFrom HPO Gene-Disease Associations genes associated with the white mater abnormalities in the posterior periventricular region phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
Congenital Abnormalities Gene SetFrom HuGE Navigator Gene-Phenotype Associations genes associated with the Congenital Abnormalities phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset. |
Skin Abnormalities Gene SetFrom HuGE Navigator Gene-Phenotype Associations genes associated with the Skin Abnormalities phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset. |
Tooth Abnormalities Gene SetFrom HuGE Navigator Gene-Phenotype Associations genes associated with the Tooth Abnormalities phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset. |
Abnormalities, Multiple Gene SetFrom HuGE Navigator Gene-Phenotype Associations genes associated with the Abnormalities, Multiple phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset. |
Abnormalities Gene SetFrom HuGE Navigator Gene-Phenotype Associations genes associated with the Abnormalities phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset. |
Jaw Abnormalities Gene SetFrom HuGE Navigator Gene-Phenotype Associations genes associated with the Jaw Abnormalities phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset. |
Craniofacial Abnormalities Gene SetFrom HuGE Navigator Gene-Phenotype Associations genes associated with the Craniofacial Abnormalities phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset. |
Cardiovascular Abnormalities Gene SetFrom HuGE Navigator Gene-Phenotype Associations genes associated with the Cardiovascular Abnormalities phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset. |
Mouth Abnormalities Gene SetFrom HuGE Navigator Gene-Phenotype Associations genes associated with the Mouth Abnormalities phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset. |
Digestive System Abnormalities Gene SetFrom HuGE Navigator Gene-Phenotype Associations genes associated with the Digestive System Abnormalities phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset. |
Musculoskeletal Abnormalities Gene SetFrom HuGE Navigator Gene-Phenotype Associations genes associated with the Musculoskeletal Abnormalities phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset. |
Abnormalities, Drug-Induced Gene SetFrom HuGE Navigator Gene-Phenotype Associations genes associated with the Abnormalities, Drug-Induced phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset. |
deafness, cataract, retinitis pigmentosa, and sperm abnormalities Gene SetFrom OMIM Gene-Disease Associations genes associated with the deafness, cataract, retinitis pigmentosa, and sperm abnormalities phenotype from the curated OMIM Gene-Disease Associations dataset. |
anemia, x-linked, with/without neutropenia and/or platelet abnormalities Gene SetFrom OMIM Gene-Disease Associations genes associated with the anemia, x-linked, with/without neutropenia and/or platelet abnormalities phenotype from the curated OMIM Gene-Disease Associations dataset. |
short stature, auditory canal atresia, mandibular hypoplasia, skeletal abnormalities Gene SetFrom OMIM Gene-Disease Associations genes associated with the short stature, auditory canal atresia, mandibular hypoplasia, skeletal abnormalities phenotype from the curated OMIM Gene-Disease Associations dataset. |
primary aldosteronism, seizures, and neurologic abnormalities Gene SetFrom OMIM Gene-Disease Associations genes associated with the primary aldosteronism, seizures, and neurologic abnormalities phenotype from the curated OMIM Gene-Disease Associations dataset. |
optic nerve hypoplasia and abnormalities of the central nervous system Gene SetFrom OMIM Gene-Disease Associations genes associated with the optic nerve hypoplasia and abnormalities of the central nervous system phenotype from the curated OMIM Gene-Disease Associations dataset. |
renal tubular acidosis, proximal, with ocular abnormalities Gene SetFrom OMIM Gene-Disease Associations genes associated with the renal tubular acidosis, proximal, with ocular abnormalities phenotype from the curated OMIM Gene-Disease Associations dataset. |
?retinal dystrophy with inner retinal dysfunction and ganglion cell abnormalities Gene SetFrom OMIM Gene-Disease Associations genes associated with the ?retinal dystrophy with inner retinal dysfunction and ganglion cell abnormalities phenotype from the curated OMIM Gene-Disease Associations dataset. |
immunodeficiency 16, with or without neurologic abnormalities Gene SetFrom OMIM Gene-Disease Associations genes associated with the immunodeficiency 16, with or without neurologic abnormalities phenotype from the curated OMIM Gene-Disease Associations dataset. |
nephrotic syndrome, type 5, with or without ocular abnormalities Gene SetFrom OMIM Gene-Disease Associations genes associated with the nephrotic syndrome, type 5, with or without ocular abnormalities phenotype from the curated OMIM Gene-Disease Associations dataset. |
Mitochondrial Abnormalities Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Mitochondrial Abnormalities in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Erectile Abnormalities Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Erectile Abnormalities in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Placental Abnormalities (Excl Neoplasms) Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Placental Abnormalities (Excl Neoplasms) in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Conduction System Abnormalities Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Conduction System Abnormalities in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Platelet Abnormalities With Eosinophilia And Immune-Mediated Inflammatory Disease Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Platelet Abnormalities With Eosinophilia And Immune-Mediated Inflammatory Disease in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Diffuse White Matter Abnormalities Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Diffuse White Matter Abnormalities in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Primary Aldosteronism, Seizures, And Neurologic Abnormalities Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Primary Aldosteronism, Seizures, And Neurologic Abnormalities in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Maxillofacial Abnormalities Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Maxillofacial Abnormalities in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Nail And Tooth Abnormalities, Marginal Palmoplantar Keratoderma, Oral Hyperpigmentation Syndrome Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Nail And Tooth Abnormalities, Marginal Palmoplantar Keratoderma, Oral Hyperpigmentation Syndrome in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Papillorenal Syndrome With Macular Abnormalities Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Papillorenal Syndrome With Macular Abnormalities in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Neural Tube--Abnormalities Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Neural Tube--Abnormalities in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Abnormalities Of Placenta Or Umbilical Cord Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Abnormalities Of Placenta Or Umbilical Cord in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Emg: Myopathic Abnormalities Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Emg: Myopathic Abnormalities in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Multifocal Cerebral White Matter Abnormalities Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Multifocal Cerebral White Matter Abnormalities in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Respiratory Abnormalities Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Respiratory Abnormalities in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Renal Abnormalities Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Renal Abnormalities in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Rib Segmentation Abnormalities Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Rib Segmentation Abnormalities in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Speech And Language Abnormalities Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Speech And Language Abnormalities in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Pili Torti Developmental Delay Neurological Abnormalities Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Pili Torti Developmental Delay Neurological Abnormalities in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
White Mater Abnormalities In The Posterior Periventricular Region Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype White Mater Abnormalities In The Posterior Periventricular Region in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Microcephalic Osteodysplastic Primordial Dwarfism With Tooth Abnormalities Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Microcephalic Osteodysplastic Primordial Dwarfism With Tooth Abnormalities in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Structural Brain Abnormalities Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Structural Brain Abnormalities in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Defective SLC4A4 causes renal tubular acidosis, proximal, with ocular abnormalities and mental retardation (pRTA-OA) Gene Setproteins participating in the Defective SLC4A4 causes renal tubular acidosis, proximal, with ocular abnormalities and mental retardation (pRTA-OA) pathway from the Reactome Pathways 2024 dataset. |
Myeloid and lymphoid neoplasms with eosinophilia and abnormalities of PDGFRA, PDGFRB, and FGFR1 Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Myeloid and lymphoid neoplasms with eosinophilia and abnormalities of PDGFRA, PDGFRB, and FGFR1 from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. |
microcephaly, short stature, and limb abnormalities Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease microcephaly, short stature, and limb abnormalities in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Developmental delay and seizures with or without movement abnormalities Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Developmental delay and seizures with or without movement abnormalities in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Intellectual developmental disorder with short stature and behavioral abnormalities Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Intellectual developmental disorder with short stature and behavioral abnormalities in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
childhood-onset dystonia with optic atrophy and basal ganglia abnormalities Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease childhood-onset dystonia with optic atrophy and basal ganglia abnormalities in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Neurodevelopmental disorder with eye movement abnormalities and ataxia Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Neurodevelopmental disorder with eye movement abnormalities and ataxia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Myeloid and lymphoid neoplasms with eosinophilia and abnormalities of PDGFRA, PDGFRB, and FGFR1 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Myeloid and lymphoid neoplasms with eosinophilia and abnormalities of PDGFRA, PDGFRB, and FGFR1 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Myeloid and lymphoid neoplasms associated with FGFR1 abnormalities Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Myeloid and lymphoid neoplasms associated with FGFR1 abnormalities in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Inflammatory poikiloderma with hair abnormalities and acral keratoses Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Inflammatory poikiloderma with hair abnormalities and acral keratoses in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Neurodevelopmental disorder with brain abnormalities, poor growth, and dysmorphic facies Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Neurodevelopmental disorder with brain abnormalities, poor growth, and dysmorphic facies in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Optic nerve hypoplasia and abnormalities of the central nervous system Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Optic nerve hypoplasia and abnormalities of the central nervous system phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
EMG: myopathic abnormalities Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the EMG: myopathic abnormalities phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Brain abnormalities Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Brain abnormalities phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
PITX2-Related Eye Abnormalities Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the PITX2-Related Eye Abnormalities phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Platelet abnormalities Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Platelet abnormalities phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Inclusion body myopathy and brain white matter abnormalities Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Inclusion body myopathy and brain white matter abnormalities phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Pili torti-developmental delay-neurological abnormalities syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Pili torti-developmental delay-neurological abnormalities syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Subpleural-predominant interstitial lung abnormalities Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Subpleural-predominant interstitial lung abnormalities phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Interstitial lung abnormalities Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Interstitial lung abnormalities phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |