Name

retinol dystrophy, iris coloboma, and comedogenic acne syndrome Gene Set

From OMIM Gene-Disease Associations

genes associated with the retinol dystrophy, iris coloboma, and comedogenic acne syndrome phenotype from the curated OMIM Gene-Disease Associations dataset.

Retinal dystrophy, iris coloboma, and comedogenic acne syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Retinal dystrophy, iris coloboma, and comedogenic acne syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Iris coloboma with ptosis, hypertelorism, and mental retardation Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Iris coloboma with ptosis, hypertelorism, and mental retardation phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Iris Coloboma With Ptosis, Hypertelorism, And Mental Retardation Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Iris Coloboma With Ptosis, Hypertelorism, And Mental Retardation in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

iris coloboma Gene Set

From HPO Gene-Disease Associations

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

iris coloboma Gene Set

From MPO Gene-Phenotype Associations

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

Coloboma Of Iris Gene Set

From DisGeNET Gene-Disease Associations

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

Congenital Coloboma Of Iris Gene Set

From DisGeNET Gene-Disease Associations

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

iris coloboma Gene Set

From MGI Mouse Phenotype Associations 2023

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

Iris coloboma Gene Set

From ClinVar Gene-Phenotype Associations 2025

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

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

From GAD Gene-Disease Associations

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

Progressive retinal dystrophy due to retinol transport defect Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Progressive retinal dystrophy due to retinol transport defect phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Coloboma, uveal, with cleft lip and palate and mental retardation Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Coloboma, uveal, with cleft lip and palate and mental retardation phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Pyogenic arthritis, pyoderma gangrenosum and acne Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Pyogenic arthritis, pyoderma gangrenosum and acne phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Pyogenic arthritis, pyoderma gangrenosum, and acne Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Pyogenic arthritis, pyoderma gangrenosum, and acne from the curated CTD Gene-Disease Associations dataset.

pyogenic sterile arthritis, pyoderma gangrenosum, and acne Gene Set

From OMIM Gene-Disease Associations

genes associated with the pyogenic sterile arthritis, pyoderma gangrenosum, and acne phenotype from the curated OMIM Gene-Disease Associations dataset.

Pyogenic Arthritis, Pyoderma Gangrenosum And Acne Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Pyogenic Arthritis, Pyoderma Gangrenosum And Acne in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Coloboma, Cleft Lip-Palate And Mental Retardation Syndrome Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Coloboma, Cleft Lip-Palate And Mental Retardation Syndrome in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

acne vulgaris; hirsutism; hyperandrogenism; polycystic ovary syndrome Gene Set

From GAD Gene-Disease Associations

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

Pyogenic arthritis-pyoderma gangrenosum-acne syndrome Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Pyogenic arthritis-pyoderma gangrenosum-acne syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

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

From ClinVar Gene-Phenotype Associations 2025

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

Corpus Callosum, Agenesis of, with Mental Retardation, Ocular Coloboma, and Micrognathia Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Corpus Callosum, Agenesis of, with Mental Retardation, Ocular Coloboma, and Micrognathia from the curated CTD Gene-Disease Associations dataset.

Microtia With Nasolacrimal Duct Imperforation And Eye Coloboma Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Microtia With Nasolacrimal Duct Imperforation And Eye Coloboma from the curated CTD Gene-Disease Associations dataset.

Iris hypoplasia and glaucoma Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Iris hypoplasia and glaucoma from the curated CTD Gene-Disease Associations dataset.

corpus callosum, agenesis of, with mental retardation, ocular coloboma and micrognathia Gene Set

From OMIM Gene-Disease Associations

genes associated with the corpus callosum, agenesis of, with mental retardation, ocular coloboma and micrognathia phenotype from the curated OMIM Gene-Disease Associations dataset.

iris hypoplasia and glaucoma Gene Set

From OMIM Gene-Disease Associations

genes associated with the iris hypoplasia and glaucoma phenotype from the curated OMIM Gene-Disease Associations dataset.

microtia with nasolacrimal duct imperforation and eye coloboma Gene Set

From OMIM Gene-Disease Associations

genes associated with the microtia with nasolacrimal duct imperforation and eye coloboma phenotype from the curated OMIM Gene-Disease Associations dataset.

coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or mental retardation Gene Set

From OMIM Gene-Disease Associations

genes associated with the coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or mental retardation phenotype from the curated OMIM Gene-Disease Associations dataset.

Coloboma Of Choroid And Retina Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Coloboma Of Choroid And Retina in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Uveal coloboma-cleft lip and palate-intellectual disability Gene Set

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

genes co-occuring with the disease Uveal coloboma-cleft lip and palate-intellectual disability in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Uveal coloboma-cleft lip and palate-intellectual disability Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Uveal coloboma-cleft lip and palate-intellectual disability phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Acne Vulgaris Gene Set

From CTD Gene-Disease Associations

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

acne Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores

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

acne vulgaris Gene Set

From GAD Gene-Disease Associations

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

acne vulgaris; Gene Set

From GAD Gene-Disease Associations

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

acne Gene Set

From GeneRIF Biological Term Annotations

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

acne Gene Set

From GWASdb SNP-Disease Associations

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

acne Gene Set

From GWASdb SNP-Phenotype Associations

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

acne Gene Set

From HPO Gene-Disease Associations

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

Acne Vulgaris Gene Set

From HuGE Navigator Gene-Phenotype Associations

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

acne inversa, familial, 3 Gene Set

From OMIM Gene-Disease Associations

genes associated with the acne inversa, familial, 3 phenotype from the curated OMIM Gene-Disease Associations dataset.

acne inversa, familial, 1 Gene Set

From OMIM Gene-Disease Associations

genes associated with the acne inversa, familial, 1 phenotype from the curated OMIM Gene-Disease Associations dataset.

acne inversa, familial, 2 Gene Set

From OMIM Gene-Disease Associations

genes associated with the acne inversa, familial, 2 phenotype from the curated OMIM Gene-Disease Associations dataset.

Acne Gene Set

From DisGeNET Gene-Disease Associations

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

Inflammatory Acne Gene Set

From DisGeNET Gene-Disease Associations

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

Nodulocystic Acne Gene Set

From DisGeNET Gene-Disease Associations

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

Atrophic Acne Scar Gene Set

From DisGeNET Gene-Disease Associations

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

Comedonal Acne Gene Set

From DisGeNET Gene-Disease Associations

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

Follicular Occlusion Triad - Hidradenitis, Acne Conglobata, Dissecting Cellulitis Of Scalp Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Follicular Occlusion Triad - Hidradenitis, Acne Conglobata, Dissecting Cellulitis Of Scalp in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Acne Inversa Gene Set

From DisGeNET Gene-Disease Associations

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

Acne Gene Set

From DISEASES Experimental Gene-Disease Association Evidence Scores 2025

genes associated with the disease Acne in GWAS datasets from the DISEASES Experimental Gene-Disease Assocation Evidence Scores 2025 dataset.

Acne Gene Set

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

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

Acne inversa Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Acne inversa phenotype from the curated ClinVar Gene-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.

Renal coloboma syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

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.

cerebral-cerebellar-coloboma syndrome, x-linked Gene Set

From OMIM Gene-Disease Associations

genes associated with the cerebral-cerebellar-coloboma syndrome, x-linked phenotype from the curated OMIM Gene-Disease Associations dataset.

Immune Reconstitution Inflammatory Syndrome [Iris] Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Immune Reconstitution Inflammatory Syndrome [Iris] in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

X-Linked Cerebral, Cerebellar, Coloboma Syndrome Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease X-Linked Cerebral, Cerebellar, Coloboma Syndrome in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Nasopalpebral Lipoma Coloboma Syndrome Gene Set

From DisGeNET Gene-Disease Associations

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

Intraoperative Floppy Iris Syndrome Gene Set

From DisGeNET Gene-Phenotype Associations

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

Renal coloboma syndrome Gene Set

From DISEASES Curated Gene-Disease Association Evidence Scores 2025

genes involed in the disease Renal coloboma syndrome from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset.

Renal coloboma syndrome Gene Set

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

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

Renal coloboma syndrome Gene Set

From ClinVar Gene-Phenotype Associations 2025

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

Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

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

From ClinVar Gene-Phenotype Associations

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

?retinal dystrophy, juvenile cataracts, and short stature syndrome Gene Set

From OMIM Gene-Disease Associations

genes associated with the ?retinal dystrophy, juvenile cataracts, and short stature syndrome phenotype from the curated OMIM Gene-Disease Associations dataset.

Ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome Gene Set

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

genes co-occuring with the disease Ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

becker muscular dystrophy; duchenne muscular dystrophy Gene Set

From GAD Gene-Disease Associations

genes associated with the disease becker muscular dystrophy; duchenne muscular dystrophy in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

retinol palmitate Gene Set

From CTD Gene-Chemical Interactions

genes/proteins interacting with the chemical retinol palmitate from the curated CTD Gene-Chemical Interactions dataset.

retinol acetate Gene Set

From CTD Gene-Chemical Interactions

genes/proteins interacting with the chemical retinol acetate from the curated CTD Gene-Chemical Interactions dataset.

insulin-like growth factor-3; retinol Gene Set

From GAD Gene-Disease Associations

genes associated with the disease insulin-like growth factor-3; retinol in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

retinol Gene Set

From GeneRIF Biological Term Annotations

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

retinol metabolic process Gene Set

From GO Biological Process Annotations 2015

genes participating in the retinol metabolic process biological process from the curated GO Biological Process Annotations 2015 dataset.

retinol transport Gene Set

From GO Biological Process Annotations 2015

genes participating in the retinol transport biological process from the curated GO Biological Process Annotations 2015 dataset.

all-trans-retinyl-palmitate hydrolase, 11-cis retinol forming activity Gene Set

From GO Molecular Function Annotations 2015

genes performing the all-trans-retinyl-palmitate hydrolase, 11-cis retinol forming activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.

retinol transporter activity Gene Set

From GO Molecular Function Annotations 2015

genes performing the retinol transporter activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.

phosphatidylcholine-retinol o-acyltransferase activity Gene Set

From GO Molecular Function Annotations 2015

genes performing the phosphatidylcholine-retinol o-acyltransferase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.

retinol o-fatty-acyltransferase activity Gene Set

From GO Molecular Function Annotations 2015

genes performing the retinol o-fatty-acyltransferase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.

retinol binding Gene Set

From GO Molecular Function Annotations 2015

genes performing the retinol binding molecular function from the curated GO Molecular Function Annotations 2015 dataset.

all-trans-retinol 13,14-reductase activity Gene Set

From GO Molecular Function Annotations 2015

genes performing the all-trans-retinol 13,14-reductase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.

nadp-retinol dehydrogenase activity Gene Set

From GO Molecular Function Annotations 2015

genes performing the nadp-retinol dehydrogenase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.

all-trans-retinyl-ester hydrolase, 11-cis retinol forming activity Gene Set

From GO Molecular Function Annotations 2015

genes performing the all-trans-retinyl-ester hydrolase, 11-cis retinol forming activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.

retinol dehydrogenase activity Gene Set

From GO Molecular Function Annotations 2015

genes performing the retinol dehydrogenase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.

retinol Gene Set

From Guide to Pharmacology Chemical Ligands of Receptors

receptors of the retinol ligand (chemical) from the curated Guide to Pharmacology Chemical Ligands of Receptors dataset.

Retinol levels Gene Set

From GWAS Catalog SNP-Phenotype Associations

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

11-cis-Retinol Gene Set

From HMDB Metabolites of Enzymes

interacting proteins for the 11-cis-Retinol metabolite from the curated HMDB Metabolites of Enzymes dataset.

retinol biosynthesis Gene Set

From HumanCyc Pathways

proteins participating in the retinol biosynthesis pathway from the HumanCyc Pathways dataset.

Retinol binding protein/Purpurin Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Retinol binding protein/Purpurin protein domain from the InterPro Predicted Protein Domain Annotations dataset.

retinol metabolism Gene Set

From KEGG Pathways

proteins participating in the retinol metabolism pathway from the KEGG Pathways dataset.

abnormal retinol metabolism Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the abnormal retinol metabolism phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

abnormal retinol level Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the abnormal retinol level phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Retinol metabolism(Mus musculus) Gene Set

From WikiPathways Pathways 2014

proteins participating in the Retinol metabolism(Mus musculus) pathway from the WikiPathways Pathways 2014 dataset.

Retinol Deficiency Gene Set

From DisGeNET Gene-Disease Associations

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

retinol transport Gene Set

From GO Biological Process Annotations 2023

genes participating in the retinol transport biological process from the curated GO Biological Process Annotations 2023 dataset.

NAD-retinol dehydrogenase activity Gene Set

From GO Molecular Function Annotations 2023

genes performing the NAD-retinol dehydrogenase activity molecular function from the curated GO Molecular Function Annotations 2023 dataset.

retinol isomerase activity Gene Set

From GO Molecular Function Annotations 2023

genes performing the retinol isomerase activity molecular function from the curated GO Molecular Function Annotations 2023 dataset.

NADP-retinol dehydrogenase activity Gene Set

From GO Molecular Function Annotations 2023

genes performing the NADP-retinol dehydrogenase activity molecular function from the curated GO Molecular Function Annotations 2023 dataset.

phosphatidylcholine-retinol O-acyltransferase activity Gene Set

From GO Molecular Function Annotations 2023

genes performing the phosphatidylcholine-retinol O-acyltransferase activity molecular function from the curated GO Molecular Function Annotations 2023 dataset.

retinol binding Gene Set

From GO Molecular Function Annotations 2023

genes performing the retinol binding molecular function from the curated GO Molecular Function Annotations 2023 dataset.

all-trans-retinol binding Gene Set

From GO Molecular Function Annotations 2023

genes performing the all-trans-retinol binding molecular function from the curated GO Molecular Function Annotations 2023 dataset.

all-trans-retinyl-palmitate hydrolase, 11-cis retinol forming activity Gene Set

From GO Molecular Function Annotations 2023

genes performing the all-trans-retinyl-palmitate hydrolase, 11-cis retinol forming activity molecular function from the curated GO Molecular Function Annotations 2023 dataset.

all-trans-retinyl-ester hydrolase, 11-cis retinol forming activity Gene Set

From GO Molecular Function Annotations 2023

genes performing the all-trans-retinyl-ester hydrolase, 11-cis retinol forming activity molecular function from the curated GO Molecular Function Annotations 2023 dataset.

all-trans retinol 3,4-desaturase activity Gene Set

From GO Molecular Function Annotations 2023

genes performing the all-trans retinol 3,4-desaturase activity molecular function from the curated GO Molecular Function Annotations 2023 dataset.

retinol O-fatty-acyltransferase activity Gene Set

From GO Molecular Function Annotations 2023

genes performing the retinol O-fatty-acyltransferase activity molecular function from the curated GO Molecular Function Annotations 2023 dataset.

all-trans-retinol 13,14-reductase activity Gene Set

From GO Molecular Function Annotations 2023

genes performing the all-trans-retinol 13,14-reductase activity molecular function from the curated GO Molecular Function Annotations 2023 dataset.

abnormal retinol metabolism Gene Set

From MGI Mouse Phenotype Associations 2023

gene mutations causing the abnormal retinol metabolism phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.

abnormal retinol level Gene Set

From MGI Mouse Phenotype Associations 2023

gene mutations causing the abnormal retinol level phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.

Retinol Gene Set

From MW Enzyme Metabolite Associations

interacting proteins for Retinol metabolite from the MW Gene Metabolite Associations dataset.

11-cis-Retinol Gene Set

From MW Enzyme Metabolite Associations

interacting proteins for 11-cis-Retinol metabolite from the MW Gene Metabolite Associations dataset.

retinol metabolic process Gene Set

From GO Biological Process Annotations 2025

genes participating in the retinol metabolic process biological process from the curated GO Biological Process Annotations 2025 dataset.

retinol transport Gene Set

From GO Biological Process Annotations 2025

genes participating in the retinol transport biological process from the curated GO Biological Process Annotations 2025 dataset.

all-trans-retinol dehydrogenase (NAD+) activity Gene Set

From GO Molecular Function Annotations 2025

genes performing the all-trans-retinol dehydrogenase (NAD+) activity molecular function from the curated GO Molecular Function Annotations 2025 dataset.

retinol isomerase activity Gene Set

From GO Molecular Function Annotations 2025

genes performing the retinol isomerase activity molecular function from the curated GO Molecular Function Annotations 2025 dataset.

all-trans-retinol dehydrogenase (NADP+) activity Gene Set

From GO Molecular Function Annotations 2025

genes performing the all-trans-retinol dehydrogenase (NADP+) activity molecular function from the curated GO Molecular Function Annotations 2025 dataset.

phosphatidylcholine-retinol O-acyltransferase activity Gene Set

From GO Molecular Function Annotations 2025

genes performing the phosphatidylcholine-retinol O-acyltransferase activity molecular function from the curated GO Molecular Function Annotations 2025 dataset.

retinol binding Gene Set

From GO Molecular Function Annotations 2025

genes performing the retinol binding molecular function from the curated GO Molecular Function Annotations 2025 dataset.

retinol transmembrane transporter activity Gene Set

From GO Molecular Function Annotations 2025

genes performing the retinol transmembrane transporter activity molecular function from the curated GO Molecular Function Annotations 2025 dataset.

all-trans-retinol binding Gene Set

From GO Molecular Function Annotations 2025

genes performing the all-trans-retinol binding molecular function from the curated GO Molecular Function Annotations 2025 dataset.

all-trans-retinyl-palmitate hydrolase, 11-cis retinol forming activity Gene Set

From GO Molecular Function Annotations 2025

genes performing the all-trans-retinyl-palmitate hydrolase, 11-cis retinol forming activity molecular function from the curated GO Molecular Function Annotations 2025 dataset.

all-trans-retinyl-ester hydrolase, 11-cis retinol forming activity Gene Set

From GO Molecular Function Annotations 2025

genes performing the all-trans-retinyl-ester hydrolase, 11-cis retinol forming activity molecular function from the curated GO Molecular Function Annotations 2025 dataset.

all-trans retinol 3,4-desaturase activity Gene Set

From GO Molecular Function Annotations 2025

genes performing the all-trans retinol 3,4-desaturase activity molecular function from the curated GO Molecular Function Annotations 2025 dataset.

retinol O-fatty-acyltransferase activity Gene Set

From GO Molecular Function Annotations 2025

genes performing the retinol O-fatty-acyltransferase activity molecular function from the curated GO Molecular Function Annotations 2025 dataset.

all-trans-retinol 13,14-reductase activity Gene Set

From GO Molecular Function Annotations 2025

genes performing the all-trans-retinol 13,14-reductase activity molecular function from the curated GO Molecular Function Annotations 2025 dataset.

Retinol levels Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

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

Retinol metabolism Gene Set

From KEGG Pathways 2026

proteins participating in the Retinol metabolism pathway from the KEGG Pathways 2026 dataset.

PMC9377669-tx1c00392_si_002.xlsx-Retinol-ZNF503_ZNF503 Gene Set

From Rummagene Transcription Factor Associations 2026

target genes of the PMC9377669-tx1c00392_si_002.xlsx-Retinol-ZNF503_ZNF503 transcription factor from the Rummagene Transcription Factor Associations 2026 dataset.

digeorge syndrome; pharyngeal pouch; syndrome; velo-cardio-facial syndrome; 22q11 deletion syndrome Gene Set

From GAD Gene-Disease Associations

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

Ocular coloboma, autosomal recessive Gene Set

From ClinVar Gene-Phenotype Associations

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

Coloboma of optic disc Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Coloboma of optic disc phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Congenital ocular coloboma Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Congenital ocular coloboma phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Microphthalmia, isolated, with coloboma 6 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Microphthalmia, isolated, with coloboma 6 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Microphthalmia, isolated, with coloboma 7 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Microphthalmia, isolated, with coloboma 7 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Microphthalmia, isolated, with coloboma 9 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Microphthalmia, isolated, with coloboma 9 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

BRCA1-IRIS-pre-replication complex Gene Set

From CORUM Protein Complexes

proteins in the BRCA1-IRIS-pre-replication complex protein complex from the CORUM Protein Complexes dataset.

MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 6 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 6 from the curated CTD Gene-Disease Associations dataset.

Microphthalmia, Isolated, with Coloboma 2 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Microphthalmia, Isolated, with Coloboma 2 from the curated CTD Gene-Disease Associations dataset.

Coloboma Gene Set

From CTD Gene-Disease Associations

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

Microphthalmia, Isolated, with Coloboma 5 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Microphthalmia, Isolated, with Coloboma 5 from the curated CTD Gene-Disease Associations dataset.

Coloboma of optic nerve Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Coloboma of optic nerve from the curated CTD Gene-Disease Associations dataset.

Hereditary macular coloboma Gene Set

From CTD Gene-Disease Associations

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

Microphthalmia, Isolated, with Coloboma 3 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Microphthalmia, Isolated, with Coloboma 3 from the curated CTD Gene-Disease Associations dataset.

Microphthalmia, Isolated, with Coloboma 1 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Microphthalmia, Isolated, with Coloboma 1 from the curated CTD Gene-Disease Associations dataset.

Iris Gene Set

From dbGAP Gene-Trait Associations

genes associated with the trait Iris in GWAS and other genetic association datasets from the dbGAP Gene-Trait Associations dataset.

iris disease Gene Set

From DISEASES Curated Gene-Disease Association Evidence Scores

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

coloboma Gene Set

From DISEASES Curated Gene-Disease Association Evidence Scores

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

malignant iris melanoma Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores

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

iris cancer Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores

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

coloboma Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores

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

iris disease Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores

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

microphthalmia ; coloboma Gene Set

From GAD Gene-Disease Associations

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

iris Gene Set

From GAD Gene-Disease Associations

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

iris color Gene Set

From GAD Gene-Disease Associations

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

coloboma Gene Set

From GeneRIF Biological Term Annotations

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

iris Gene Set

From GeneRIF Biological Term Annotations

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

iris morphogenesis Gene Set

From GO Biological Process Annotations 2015

genes participating in the iris morphogenesis biological process from the curated GO Biological Process Annotations 2015 dataset.

Iris color Gene Set

From GWAS Catalog SNP-Phenotype Associations

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

Iris characteristics Gene Set

From GWAS Catalog SNP-Phenotype Associations

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

iris disease Gene Set

From GWASdb SNP-Disease Associations

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

retinal coloboma Gene Set

From GWASdb SNP-Phenotype Associations

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

abnormality of the iris Gene Set

From GWASdb SNP-Phenotype Associations

genes associated with the abnormality of the iris phenotype in GWAS datasets from the GWASdb SNP-Phenotype Associations dataset.

abnormal iris pigmentation Gene Set

From GWASdb SNP-Phenotype Associations

genes associated with the abnormal iris pigmentation phenotype in GWAS datasets from the GWASdb SNP-Phenotype Associations dataset.

coloboma Gene Set

From GWASdb SNP-Phenotype Associations

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

aplasia/hypoplasia of the iris Gene Set

From HPO Gene-Disease Associations

genes associated with the aplasia/hypoplasia of the iris phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

optic nerve coloboma Gene Set

From HPO Gene-Disease Associations

genes associated with the optic nerve coloboma phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

abnormal iris vasculature Gene Set

From HPO Gene-Disease Associations

genes associated with the abnormal iris vasculature phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

macular coloboma Gene Set

From HPO Gene-Disease Associations

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

upper eyelid coloboma Gene Set

From HPO Gene-Disease Associations

genes associated with the upper eyelid coloboma phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

abnormality of the iris Gene Set

From HPO Gene-Disease Associations

genes associated with the abnormality of the iris phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

coloboma Gene Set

From HPO Gene-Disease Associations

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

choroid coloboma Gene Set

From HPO Gene-Disease Associations

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

hypoplastic iris stroma Gene Set

From HPO Gene-Disease Associations

genes associated with the hypoplastic iris stroma phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

iris atrophy Gene Set

From HPO Gene-Disease Associations

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

iris hypopigmentation Gene Set

From HPO Gene-Disease Associations

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

irido-fundal coloboma Gene Set

From HPO Gene-Disease Associations

genes associated with the irido-fundal coloboma phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

hypoplasia of the iris Gene Set

From HPO Gene-Disease Associations

genes associated with the hypoplasia of the iris phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

lens coloboma Gene Set

From HPO Gene-Disease Associations

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

lower eyelid coloboma Gene Set

From HPO Gene-Disease Associations

genes associated with the lower eyelid coloboma phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

chorioretinal coloboma Gene Set

From HPO Gene-Disease Associations

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

retinal coloboma Gene Set

From HPO Gene-Disease Associations

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

abnormal iris pigmentation Gene Set

From HPO Gene-Disease Associations

genes associated with the abnormal iris pigmentation phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Coloboma Gene Set

From HuGE Navigator Gene-Phenotype Associations

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

optic nerve coloboma Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the optic nerve coloboma phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

iris stroma hypoplasia Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the iris stroma hypoplasia phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

iris synechia Gene Set

From MPO Gene-Phenotype Associations

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

abnormal iris pigment epithelium Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the abnormal iris pigment epithelium phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

abnormal iris pigmentation Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the abnormal iris pigmentation phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

anterior iris synechia Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the anterior iris synechia phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

coloboma Gene Set

From MPO Gene-Phenotype Associations

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

retina coloboma Gene Set

From MPO Gene-Phenotype Associations

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

iris atrophy Gene Set

From MPO Gene-Phenotype Associations

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

optic disc coloboma Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the optic disc coloboma phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

uveal coloboma Gene Set

From MPO Gene-Phenotype Associations

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

abnormal iris morphology Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the abnormal iris morphology phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

abnormal iris stromal pigmentation Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the abnormal iris stromal pigmentation phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

abnormal iris stroma morphology Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the abnormal iris stroma morphology phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

iris hypoplasia Gene Set

From MPO Gene-Phenotype Associations

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

microphthalmia, isolated, with coloboma 7 Gene Set

From OMIM Gene-Disease Associations

genes associated with the microphthalmia, isolated, with coloboma 7 phenotype from the curated OMIM Gene-Disease Associations dataset.

microphthalmia, isolated, with coloboma 8 Gene Set

From OMIM Gene-Disease Associations

genes associated with the microphthalmia, isolated, with coloboma 8 phenotype from the curated OMIM Gene-Disease Associations dataset.

microphthalmia, isolated, with coloboma 9 Gene Set

From OMIM Gene-Disease Associations

genes associated with the microphthalmia, isolated, with coloboma 9 phenotype from the curated OMIM Gene-Disease Associations dataset.

?coloboma, ocular, autosomal recessive Gene Set

From OMIM Gene-Disease Associations

genes associated with the ?coloboma, ocular, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.

coloboma, ocular Gene Set

From OMIM Gene-Disease Associations

genes associated with the coloboma, ocular phenotype from the curated OMIM Gene-Disease Associations dataset.

coloboma of optic nerve Gene Set

From OMIM Gene-Disease Associations

genes associated with the coloboma of optic nerve phenotype from the curated OMIM Gene-Disease Associations dataset.

microphthalmia with coloboma 6, digenic Gene Set

From OMIM Gene-Disease Associations

genes associated with the microphthalmia with coloboma 6, digenic phenotype from the curated OMIM Gene-Disease Associations dataset.

microphthalmia with coloboma 6 Gene Set

From OMIM Gene-Disease Associations

genes associated with the microphthalmia with coloboma 6 phenotype from the curated OMIM Gene-Disease Associations dataset.

microphthalmia with coloboma 5 Gene Set

From OMIM Gene-Disease Associations

genes associated with the microphthalmia with coloboma 5 phenotype from the curated OMIM Gene-Disease Associations dataset.

microphthalmia with coloboma 2 Gene Set

From OMIM Gene-Disease Associations

genes associated with the microphthalmia with coloboma 2 phenotype from the curated OMIM Gene-Disease Associations dataset.

microphthalmia with coloboma 1 Gene Set

From OMIM Gene-Disease Associations

genes associated with the microphthalmia with coloboma 1 phenotype from the curated OMIM Gene-Disease Associations dataset.

microphthalmia with coloboma 3 Gene Set

From OMIM Gene-Disease Associations

genes associated with the microphthalmia with coloboma 3 phenotype from the curated OMIM Gene-Disease Associations dataset.

iris Gene Set

From TISSUES Curated Tissue Protein Expression Evidence Scores

proteins highly expressed in the tissue iris from the TISSUES Curated Tissue Protein Expression Evidence Scores dataset.

iris dilator muscle Gene Set

From TISSUES Text-mining Tissue Protein Expression Evidence Scores

proteins co-occuring with the tissue iris dilator muscle in abstracts of biomedical publications from the TISSUES Text-mining Tissue Protein Expression Evidence Scores dataset.

iris sphincter muscle Gene Set

From TISSUES Text-mining Tissue Protein Expression Evidence Scores

proteins co-occuring with the tissue iris sphincter muscle in abstracts of biomedical publications from the TISSUES Text-mining Tissue Protein Expression Evidence Scores dataset.

iris smooth muscle Gene Set

From TISSUES Text-mining Tissue Protein Expression Evidence Scores

proteins co-occuring with the tissue iris smooth muscle in abstracts of biomedical publications from the TISSUES Text-mining Tissue Protein Expression Evidence Scores dataset.

iris Gene Set

From TISSUES Text-mining Tissue Protein Expression Evidence Scores

proteins co-occuring with the tissue iris in abstracts of biomedical publications from the TISSUES Text-mining Tissue Protein Expression Evidence Scores dataset.

Coloboma Of Lens Gene Set

From DisGeNET Gene-Disease Associations

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

Coloboma Of Optic Disc Gene Set

From DisGeNET Gene-Disease Associations

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

Congenital Ocular Coloboma (Disorder) Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Congenital Ocular Coloboma (Disorder) in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Hereditary Macular Coloboma Gene Set

From DisGeNET Gene-Disease Associations

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

Adhesions Of Iris Gene Set

From DisGeNET Gene-Disease Associations

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

Abnormality Iris Morphology Gene Set

From DisGeNET Gene-Disease Associations

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

Coloboma Of The Retina Gene Set

From DisGeNET Gene-Disease Associations

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

Fundus Coloboma Gene Set

From DisGeNET Gene-Disease Associations

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

Uveoretinal Coloboma Gene Set

From DisGeNET Gene-Disease Associations

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

Atrophic Iris Gene Set

From DisGeNET Gene-Disease Associations

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

Aplasia/Hypoplasia Of The Iris Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Aplasia/Hypoplasia Of The Iris in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Ciliary Body Coloboma Gene Set

From DisGeNET Gene-Disease Associations

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

Microphthalmos Co-Occurrent With Congenital Ocular Coloboma Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Microphthalmos Co-Occurrent With Congenital Ocular Coloboma in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Iris Hypoplasia With Glaucoma Gene Set

From DisGeNET Gene-Disease Associations

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

Coloboma Gene Set

From DisGeNET Gene-Disease Associations

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

Coloboma Of Eyelid Gene Set

From DisGeNET Gene-Phenotype Associations

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

Iris Flocculi Gene Set

From DisGeNET Gene-Phenotype Associations

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

Eye Coloboma (In Some Patients) Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Eye Coloboma (In Some Patients) in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Pigmentary Iris Degeneration Gene Set

From DisGeNET Gene-Phenotype Associations

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

Coloboma Of Superior Eyelid Gene Set

From DisGeNET Gene-Phenotype Associations

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

Blue Iris (Physical Finding) Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Blue Iris (Physical Finding) in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Iris Transillumination Defect Gene Set

From DisGeNET Gene-Phenotype Associations

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

Abnormal Iris Vasculature Gene Set

From DisGeNET Gene-Phenotype Associations

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

Color Of Iris Gene Set

From DisGeNET Gene-Phenotype Associations

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

Iris Hyperpigmentation Gene Set

From DisGeNET Gene-Phenotype Associations

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

Iris Hypoperfusion Gene Set

From DisGeNET Gene-Phenotype Associations

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

Abnormal Iris Pigmentation Gene Set

From DisGeNET Gene-Phenotype Associations

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

Coloboma Of Inferior Eyelid Gene Set

From DisGeNET Gene-Phenotype Associations

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

Stellate Iris Gene Set

From DisGeNET Gene-Phenotype Associations

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

abnormal iris morphology Gene Set

From MGI Mouse Phenotype Associations 2023

gene mutations causing the abnormal iris morphology phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.

coloboma Gene Set

From MGI Mouse Phenotype Associations 2023

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

iris hypoplasia Gene Set

From MGI Mouse Phenotype Associations 2023

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

anterior iris synechia Gene Set

From MGI Mouse Phenotype Associations 2023

gene mutations causing the anterior iris synechia phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.

abnormal iris pigmentation Gene Set

From MGI Mouse Phenotype Associations 2023

gene mutations causing the abnormal iris pigmentation phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.

abnormal iris stroma morphology Gene Set

From MGI Mouse Phenotype Associations 2023

gene mutations causing the abnormal iris stroma morphology phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.

optic nerve coloboma Gene Set

From MGI Mouse Phenotype Associations 2023

gene mutations causing the optic nerve coloboma phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.

optic disk coloboma Gene Set

From MGI Mouse Phenotype Associations 2023

gene mutations causing the optic disk coloboma phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.

abnormal iris pigment epithelium Gene Set

From MGI Mouse Phenotype Associations 2023

gene mutations causing the abnormal iris pigment epithelium phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.

abnormal iris stromal pigmentation Gene Set

From MGI Mouse Phenotype Associations 2023

gene mutations causing the abnormal iris stromal pigmentation phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.

iris stroma hypoplasia Gene Set

From MGI Mouse Phenotype Associations 2023

gene mutations causing the iris stroma hypoplasia phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.

iris atrophy Gene Set

From MGI Mouse Phenotype Associations 2023

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

retina coloboma Gene Set

From MGI Mouse Phenotype Associations 2023

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

iris synechia Gene Set

From MGI Mouse Phenotype Associations 2023

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

uveal coloboma Gene Set

From MGI Mouse Phenotype Associations 2023

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

iris hyperplasia Gene Set

From MGI Mouse Phenotype Associations 2023

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

abnormal iris transillumination Gene Set

From MGI Mouse Phenotype Associations 2023

gene mutations causing the abnormal iris transillumination phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.

posterior iris synechia Gene Set

From MGI Mouse Phenotype Associations 2023

gene mutations causing the posterior iris synechia phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.

abnormal iris morphology Gene Set

From IMPC Knockout Mouse Phenotypes

gene knockouts causing the abnormal iris morphology phenotype in mic from the IMPC Knockout Mouse Phenotypes dataset.

iris synechia Gene Set

From IMPC Knockout Mouse Phenotypes

gene knockouts causing the iris synechia phenotype in mic from the IMPC Knockout Mouse Phenotypes dataset.

abnormal iris pigmentation Gene Set

From IMPC Knockout Mouse Phenotypes

gene knockouts causing the abnormal iris pigmentation phenotype in mic from the IMPC Knockout Mouse Phenotypes dataset.

abnormal iris transillumination Gene Set

From IMPC Knockout Mouse Phenotypes

gene knockouts causing the abnormal iris transillumination phenotype in mic from the IMPC Knockout Mouse Phenotypes dataset.

Iris puttative stem cell_Eye_Human Gene Set

From CellMarker Gene-Cell Type Associations

genes associated with the Iris puttative stem cell_Eye_Human cell type from the CellMarker Gene-Cell Type Associations dataset.

Coloboma Gene Set

From DISEASES Curated Gene-Disease Association Evidence Scores 2025

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

Iris disease Gene Set

From DISEASES Curated Gene-Disease Association Evidence Scores 2025

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

Iris disease Gene Set

From DISEASES Experimental Gene-Disease Association Evidence Scores 2025

genes associated with the disease Iris disease in GWAS datasets from the DISEASES Experimental Gene-Disease Assocation Evidence Scores 2025 dataset.

Coloboma Gene Set

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

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

Iris disease Gene Set

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

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

Malignant iris melanoma Gene Set

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

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

Iris cancer Gene Set

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

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

Iris spindle cell melanoma Gene Set

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

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

Coloboma of optic nerve Gene Set

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

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

Iris Gene Set

From TISSUES Curated Tissue Protein Expression Evidence Scores 2025

proteins highly expressed in the tissue Iris from the TISSUES Curated Tissue Protein Expression Evidence Scores 2025 dataset.

Iris sphincter muscle Gene Set

From TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025

proteins co-occuring with the tissue Iris sphincter muscle in abstracts of biomedical publications from the TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025 dataset.

Iris dilator muscle Gene Set

From TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025

proteins co-occuring with the tissue Iris dilator muscle in abstracts of biomedical publications from the TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025 dataset.

Iris smooth muscle Gene Set

From TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025

proteins co-occuring with the tissue Iris smooth muscle in abstracts of biomedical publications from the TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025 dataset.

Iris Gene Set

From TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025

proteins co-occuring with the tissue Iris in abstracts of biomedical publications from the TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025 dataset.

Iris transillumination defect Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Iris transillumination defect phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Coloboma Gene Set

From ClinVar Gene-Phenotype Associations 2025

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

Congenital ocular coloboma Gene Set

From ClinVar Gene-Phenotype Associations 2025

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

Hypoplasia of the iris Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Hypoplasia of the iris phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Coloboma of optic nerve Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Coloboma of optic nerve phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Iris color (a* coordinate) Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Iris color (a* coordinate) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Iris color (L* coordinate) Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Iris color (L* coordinate) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Iris heterochromicity Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

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

Iris color (b* coordinate) Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Iris color (b* coordinate) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Iris characteristics Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

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

Iris color Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

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

Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds Gene Set

From Reactome Pathways 2014

proteins participating in the Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds pathway from the Reactome Pathways 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.

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.

Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A10 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A10 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A12 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A12 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Corneal dystrophy and perceptive deafness Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Corneal dystrophy and perceptive deafness phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A7 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A7 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A6 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A6 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A8 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A8 phenotype from the curated ClinVar Gene-Phenotype Associations 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.

Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A14 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A14 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A5 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A5 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

T-cell immunodeficiency, congenital alopecia and nail dystrophy Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the T-cell immunodeficiency, congenital alopecia and nail dystrophy phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Microcornea, rod-cone dystrophy, cataract, and posterior staphyloma Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Microcornea, rod-cone dystrophy, cataract, and posterior staphyloma phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Epidermolysa bullosa simplex and limb girdle muscular dystrophy Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Epidermolysa bullosa simplex and limb girdle muscular dystrophy phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia and skeletal dysplasia Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia and skeletal dysplasia phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Corneal dystrophy and perceptive deafness Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Corneal dystrophy and perceptive deafness from the curated CTD Gene-Disease Associations dataset.

MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 2 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 2 from the curated CTD Gene-Disease Associations dataset.

MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 6 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 6 from the curated CTD Gene-Disease Associations dataset.

MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 5 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 5 from the curated CTD Gene-Disease Associations dataset.

MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 4 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 4 from the curated CTD Gene-Disease Associations dataset.

Ectodermal dysplasia, ectrodactyly, and macular dystrophy Gene Set

From CTD Gene-Disease Associations

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

Epidermolysa bullosa simplex and limb girdle muscular dystrophy Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Epidermolysa bullosa simplex and limb girdle muscular dystrophy from the curated CTD Gene-Disease Associations dataset.

T-cell immunodeficiency, congenital alopecia and nail dystrophy Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease T-cell immunodeficiency, congenital alopecia and nail dystrophy from the curated CTD Gene-Disease Associations dataset.

t-cell immunodeficiency, congenital alopecia, and nail dystrophy Gene Set

From OMIM Gene-Disease Associations

genes associated with the t-cell immunodeficiency, congenital alopecia, and nail dystrophy phenotype from the curated OMIM Gene-Disease Associations dataset.

muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 2 Gene Set

From OMIM Gene-Disease Associations

genes associated with the muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 2 phenotype from the curated OMIM Gene-Disease Associations dataset.

muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 3 Gene Set

From OMIM Gene-Disease Associations

genes associated with the muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 3 phenotype from the curated OMIM Gene-Disease Associations dataset.

muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1 Gene Set

From OMIM Gene-Disease Associations

genes associated with the muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1 phenotype from the curated OMIM Gene-Disease Associations dataset.

muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 6 Gene Set

From OMIM Gene-Disease Associations

genes associated with the muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 6 phenotype from the curated OMIM Gene-Disease Associations dataset.

muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 7 Gene Set

From OMIM Gene-Disease Associations

genes associated with the muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 7 phenotype from the curated OMIM Gene-Disease Associations dataset.

muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 4 Gene Set

From OMIM Gene-Disease Associations

genes associated with the muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 4 phenotype from the curated OMIM Gene-Disease Associations dataset.

muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 5 Gene Set

From OMIM Gene-Disease Associations

genes associated with the muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 5 phenotype from the curated OMIM Gene-Disease Associations dataset.

microcornea, rod-cone dystrophy, cataract, and posterior staphyloma Gene Set

From OMIM Gene-Disease Associations

genes associated with the microcornea, rod-cone dystrophy, cataract, and posterior staphyloma phenotype from the curated OMIM Gene-Disease Associations dataset.

muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12 Gene Set

From OMIM Gene-Disease Associations

genes associated with the muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12 phenotype from the curated OMIM Gene-Disease Associations dataset.

muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 13 Gene Set

From OMIM Gene-Disease Associations

genes associated with the muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 13 phenotype from the curated OMIM Gene-Disease Associations dataset.

ectodermal dysplasia, ectrodactyly, and macular dystrophy Gene Set

From OMIM Gene-Disease Associations

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

mental retardation, truncal obesity, retinal dystrophy, and micropenis Gene Set

From OMIM Gene-Disease Associations

genes associated with the mental retardation, truncal obesity, retinal dystrophy, and micropenis phenotype from the curated OMIM Gene-Disease Associations dataset.

muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type a, 11 Gene Set

From OMIM Gene-Disease Associations

genes associated with the muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type a, 11 phenotype from the curated OMIM Gene-Disease Associations dataset.

corneal endothelial dystrophy and perceptive deafness Gene Set

From OMIM Gene-Disease Associations

genes associated with the corneal endothelial dystrophy and perceptive deafness phenotype from the curated OMIM Gene-Disease Associations dataset.

muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type a, 8 Gene Set

From OMIM Gene-Disease Associations

genes associated with the muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type a, 8 phenotype from the curated OMIM Gene-Disease Associations dataset.

retinal dystrophy, early-onset, and pituitary dysfunction Gene Set

From OMIM Gene-Disease Associations

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

muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 14 Gene Set

From OMIM Gene-Disease Associations

genes associated with the muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 14 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.

muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 10 Gene Set

From OMIM Gene-Disease Associations

genes associated with the muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 10 phenotype from the curated OMIM Gene-Disease Associations dataset.

cardiomyopathy, dilated, 1f and limb-girdle muscular dystrophy type 1d Gene Set

From OMIM Gene-Disease Associations

genes associated with the cardiomyopathy, dilated, 1f and limb-girdle muscular dystrophy type 1d phenotype from the curated OMIM Gene-Disease Associations dataset.

Duchenne And Becker Muscular Dystrophy Gene Set

From DisGeNET Gene-Disease Associations

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

Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Optic Disc Anomalies With Retinal And/Or Macular Dystrophy Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Optic Disc Anomalies With Retinal And/Or Macular Dystrophy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Duchenne Muscular Dystrophy, Mental Retardation, And Absence Of Erg B-Wave Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Duchenne Muscular Dystrophy, Mental Retardation, And Absence Of Erg B-Wave in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Chorioretinal Dystrophy, Spinocerebellar Ataxia, And Hypogonadotropic Hypogonadism Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Chorioretinal Dystrophy, Spinocerebellar Ataxia, And Hypogonadotropic Hypogonadism in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Epithelial and subepithelial dystrophy Gene Set

From DISEASES Curated Gene-Disease Association Evidence Scores 2025

genes involed in the disease Epithelial and subepithelial dystrophy from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset.

T-cell immunodeficiency, congenital alopecia, and nail dystrophy Gene Set

From DISEASES Curated Gene-Disease Association Evidence Scores 2025

genes involed in the disease T-cell immunodeficiency, congenital alopecia, and nail dystrophy from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset.

Epithelial and subepithelial dystrophy Gene Set

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

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

T-cell immunodeficiency, congenital alopecia, and nail dystrophy Gene Set

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

genes co-occuring with the disease T-cell immunodeficiency, congenital alopecia, and nail dystrophy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Optic disc anomalies with retinal and/or macular dystrophy Gene Set

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

genes co-occuring with the disease Optic disc anomalies with retinal and/or macular dystrophy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Congenital muscular dystrophy with cataracts and intellectual disability Gene Set

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

genes co-occuring with the disease Congenital muscular dystrophy with cataracts and intellectual disability in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 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.

Cone dystrophy and rod monochromatism Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Cone dystrophy and rod monochromatism phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Duchenne and Becker muscular dystrophy Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Duchenne and Becker muscular dystrophy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Hearing loss and Retinal dystrophy Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Hearing loss and Retinal dystrophy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Cone-rod dystrophy and hearing loss Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Cone-rod dystrophy and hearing loss phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Retinal dystrophy and obesity Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Retinal dystrophy and obesity phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Noonan syndrome and Noonan-related syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

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

From GAD Gene-Disease Associations

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

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

From GAD Gene-Disease Associations

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

Noonan syndrome and Noonan-related syndrome Gene Set

From ClinVar Gene-Phenotype Associations 2025

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

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

From ClinVar Gene-Phenotype Associations 2025

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

Microcornea, Rod-Cone Dystrophy, Cataract, Posterior Staphyloma Syndrome Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Microcornea, Rod-Cone Dystrophy, Cataract, Posterior Staphyloma Syndrome in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Corneal dystrophy-perceptive deafness syndrome Gene Set

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

genes co-occuring with the disease Corneal dystrophy-perceptive deafness syndrome in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Corneal dystrophy-perceptive deafness syndrome Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Corneal dystrophy-perceptive deafness syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Ataxia-hypogonadism-choroidal dystrophy syndrome Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Ataxia-hypogonadism-choroidal dystrophy syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Steinert myotonic dystrophy syndrome Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Steinert myotonic dystrophy syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Lynch syndrome:Lynch syndrome:Lynch syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

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

From GAD Gene-Disease Associations

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

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

From GAD Gene-Disease Associations

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

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

From GAD Gene-Disease Associations

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

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

From GAD Gene-Disease Associations

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

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

From GAD Gene-Disease Associations

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

basic mechanism of action of ppara pparb(d) and pparg and effects on gene expression Gene Set

From Biocarta Pathways

proteins participating in the basic mechanism of action of ppara pparb(d) and pparg and effects on gene expression pathway from the Biocarta Pathways dataset.

BRCA1 and BRCA2 Hereditary Breast and Ovarian Cancer Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the BRCA1 and BRCA2 Hereditary Breast and Ovarian Cancer phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Hypomyelination with brainstem and spinal cord involvement and leg spasticity Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Hypomyelination with brainstem and spinal cord involvement and leg spasticity phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Growth and mental retardation, mandibulofacial dysostosis, microcephaly, and cleft palate Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Growth and mental retardation, mandibulofacial dysostosis, microcephaly, and cleft palate phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Mental retardation and microcephaly with pontine and cerebellar hypoplasia Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Mental retardation and microcephaly with pontine and cerebellar hypoplasia phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Diabetes mellitus AND insipidus with optic atrophy AND deafness Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Diabetes mellitus AND insipidus with optic atrophy AND deafness phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

TRICHOTHIODYSTROPHY, PHOTOSENSITIVE;TTDP ICHTHYOSIFORM ERYTHRODERMA WITH HAIR ABNORMALITY AND MENTAL AND GROWTH Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease TRICHOTHIODYSTROPHY, PHOTOSENSITIVE;TTDP ICHTHYOSIFORM ERYTHRODERMA WITH HAIR ABNORMALITY AND MENTAL AND GROWTH from the curated CTD Gene-Disease Associations dataset.

Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation 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.

Mental Retardation And Microcephaly With Pontine And Cerebellar Hypoplasia Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Mental Retardation And Microcephaly With Pontine And Cerebellar Hypoplasia from the curated CTD Gene-Disease Associations dataset.

Neuropathy, Hereditary Sensory And Autonomic, Type I, With Cough And Gastroesophageal Reflux Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Neuropathy, Hereditary Sensory And Autonomic, Type I, With Cough And Gastroesophageal Reflux from the curated CTD Gene-Disease Associations dataset.

Toe Syndactyly, Telecanthus, and Anogenital and Renal Malformations Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Toe Syndactyly, Telecanthus, and Anogenital and Renal Malformations from the curated CTD Gene-Disease Associations dataset.

postheparin plasma lipase activities body fat and plasma lipid and lipoprotein concentrations Gene Set

From GAD Gene-Disease Associations

genes associated with the disease postheparin plasma lipase activities body fat and plasma lipid and lipoprotein concentrations in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

anxiety and hostility and depression Gene Set

From GAD Gene-Disease Associations

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

charcot-marie-tooth disease; hereditary motor and sensory neuropathies; hereditary sensory and motor neuropathy Gene Set

From GAD Gene-Disease Associations

genes associated with the disease charcot-marie-tooth disease; hereditary motor and sensory neuropathies; hereditary sensory and motor neuropathy in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

frontotemporal dementia and pick-like 3r and 4r tauopathy Gene Set

From GAD Gene-Disease Associations

genes associated with the disease frontotemporal dementia and pick-like 3r and 4r tauopathy in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

adipose tissue lipoprotein lipase activity and lipoprotein lipid and glucose concentrations Gene Set

From GAD Gene-Disease Associations

genes associated with the disease adipose tissue lipoprotein lipase activity and lipoprotein lipid and glucose concentrations in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

squamous cell carcinomas of the head and neck (scchn) and breast cancer Gene Set

From GAD Gene-Disease Associations

genes associated with the disease squamous cell carcinomas of the head and neck (scchn) and breast cancer in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

vitamins and metabolites in pregnant women and neonates Gene Set

From GAD Gene-Disease Associations

genes associated with the disease vitamins and metabolites in pregnant women and neonates in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

racemase and epimerase activity, acting on amino acids and derivatives Gene Set

From GO Molecular Function Annotations 2015

genes performing the racemase and epimerase activity, acting on amino acids and derivatives molecular function from the curated GO Molecular Function Annotations 2015 dataset.

racemase and epimerase activity, acting on carbohydrates and derivatives Gene Set

From GO Molecular Function Annotations 2015

genes performing the racemase and epimerase activity, acting on carbohydrates and derivatives molecular function from the curated GO Molecular Function Annotations 2015 dataset.

leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation Gene Set

From OMIM Gene-Disease Associations

genes associated with the leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation phenotype from the curated OMIM Gene-Disease Associations dataset.

microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma Gene Set

From OMIM Gene-Disease Associations

genes associated with the microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma phenotype from the curated OMIM Gene-Disease Associations dataset.

hypomyelination with brainstem and spinal cord involvement and leg spasticity Gene Set

From OMIM Gene-Disease Associations

genes associated with the hypomyelination with brainstem and spinal cord involvement and leg spasticity phenotype from the curated OMIM Gene-Disease Associations dataset.

microcephaly, mental retardation, and distinctive facies, with cardiac and genitourinary malformations Gene Set

From OMIM Gene-Disease Associations

genes associated with the microcephaly, mental retardation, and distinctive facies, with cardiac and genitourinary malformations phenotype from the curated OMIM Gene-Disease Associations dataset.

mental retardation and microcephaly with pontine and cerebellar hypoplasia Gene Set

From OMIM Gene-Disease Associations

genes associated with the mental retardation and microcephaly with pontine and cerebellar hypoplasia phenotype from the curated OMIM Gene-Disease Associations dataset.

microcephaly, progressive, seizures, and cerebral and cerebellar atrophy Gene Set

From OMIM Gene-Disease Associations

genes associated with the microcephaly, progressive, seizures, and cerebral and cerebellar atrophy phenotype from the curated OMIM Gene-Disease Associations dataset.

craniosynostosis with radiohumeral fusions and other skeletal and craniofacial anomalies Gene Set

From OMIM Gene-Disease Associations

genes associated with the craniosynostosis with radiohumeral fusions and other skeletal and craniofacial anomalies phenotype from the curated OMIM Gene-Disease Associations dataset.

Activation of the mRNA upon binding of the cap-binding complex and eIFs, and subsequent binding to 43S Gene Set

From Reactome Pathways 2014

proteins participating in the Activation of the mRNA upon binding of the cap-binding complex and eIFs, and subsequent binding to 43S pathway from the Reactome Pathways dataset.

Cooperation of Prefoldin and TriC/CCT in actin and tubulin folding Gene Set

From Reactome Pathways 2014

proteins participating in the Cooperation of Prefoldin and TriC/CCT in actin and tubulin folding pathway from the Reactome Pathways dataset.

PI and PC transport between ER and Golgi membranes Gene Set

From Reactome Pathways 2014

proteins participating in the PI and PC transport between ER and Golgi membranes pathway from the Reactome Pathways dataset.

Orexin and neuropeptides FF and QRFP bind to their respective receptors Gene Set

From Reactome Pathways 2014

proteins participating in the Orexin and neuropeptides FF and QRFP bind to their respective receptors pathway from the Reactome Pathways dataset.

FGFR1c and Klotho ligand binding and activation Gene Set

From Reactome Pathways 2014

proteins participating in the FGFR1c and Klotho ligand binding and activation pathway from the Reactome Pathways dataset.

Transport of nucleosides and free purine and pyrimidine bases across the plasma membrane Gene Set

From Reactome Pathways 2014

proteins participating in the Transport of nucleosides and free purine and pyrimidine bases across the plasma membrane pathway from the Reactome Pathways dataset.

Synthesis and processing of ENV and VPU Gene Set

From Reactome Pathways 2014

proteins participating in the Synthesis and processing of ENV and VPU pathway from the Reactome Pathways dataset.

Synthesis and interconversion of nucleotide di- and triphosphates Gene Set

From Reactome Pathways 2014

proteins participating in the Synthesis and interconversion of nucleotide di- and triphosphates pathway from the Reactome Pathways dataset.

SREBF and miR33 in cholesterol and lipid homeostasis(Homo sapiens) Gene Set

From WikiPathways Pathways 2014

proteins participating in the SREBF and miR33 in cholesterol and lipid homeostasis(Homo sapiens) pathway from the WikiPathways Pathways 2014 dataset.

SREBF and miR33 in cholesterol and lipid homeostasis(Mus musculus) Gene Set

From WikiPathways Pathways 2014

proteins participating in the SREBF and miR33 in cholesterol and lipid homeostasis(Mus musculus) pathway from the WikiPathways Pathways 2014 dataset.

SRF and miRs in Smooth Muscle Differentiation and Proliferation(Homo sapiens) Gene Set

From WikiPathways Pathways 2014

proteins participating in the SRF and miRs in Smooth Muscle Differentiation and Proliferation(Homo sapiens) pathway from the WikiPathways Pathways 2014 dataset.

High-Grade B-Cell Lymphoma, With Myc And Bcl2 And/Or Bcl6 Rearrangements Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease High-Grade B-Cell Lymphoma, With Myc And Bcl2 And/Or Bcl6 Rearrangements in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Hypomyelination With Brain Stem And Spinal Cord Involvement And Leg Spasticity Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Hypomyelination With Brain Stem And Spinal Cord Involvement And Leg Spasticity in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Growth And Mental Retardation, Mandibulofacial Dysostosis, Microcephaly, And Cleft Palate Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Growth And Mental Retardation, Mandibulofacial Dysostosis, Microcephaly, And Cleft Palate in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Congenital Contractures Of The Limbs And Face, Hypotonia, And Developmental Delay Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Congenital Contractures Of The Limbs And Face, Hypotonia, And Developmental Delay in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Microspherophakia And/Or Megalocornea, With Ectopia Lentis And With Or Without Secondary Glaucoma Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Microspherophakia And/Or Megalocornea, With Ectopia Lentis And With Or Without Secondary Glaucoma in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Anal Intraepithelial Neoplasia I And Ii (Ain I And Ii) (Histologically Confirmed) Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Anal Intraepithelial Neoplasia I And Ii (Ain I And Ii) (Histologically Confirmed) in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

racemase and epimerase activity, acting on carbohydrates and derivatives Gene Set

From GO Molecular Function Annotations 2023

genes performing the racemase and epimerase activity, acting on carbohydrates and derivatives molecular function from the curated GO Molecular Function Annotations 2023 dataset.

SRF and miRs in smooth muscle differentiation and proliferation Gene Set

From WikiPathways Pathways 2024

proteins participating in the SRF and miRs in smooth muscle differentiation and proliferation pathway from the WikiPathways Pathways 2024 dataset.

SREBF and miR33 in cholesterol and lipid homeostasis Gene Set

From WikiPathways Pathways 2024

proteins participating in the SREBF and miR33 in cholesterol and lipid homeostasis pathway from the WikiPathways Pathways 2024 dataset.

RIOK1 and RIOK2 in EGFR and PI3K mediated tumorigenesis Gene Set

From WikiPathways Pathways 2024

proteins participating in the RIOK1 and RIOK2 in EGFR and PI3K mediated tumorigenesis pathway from the WikiPathways Pathways 2024 dataset.

ApoE and miR 146 in inflammation and atherosclerosis Gene Set

From WikiPathways Pathways 2024

proteins participating in the ApoE and miR 146 in inflammation and atherosclerosis pathway from the WikiPathways Pathways 2024 dataset.

Biosynthesis and regeneration of tetrahydrobiopterin and catabolism of phenylalanine Gene Set

From WikiPathways Pathways 2024

proteins participating in the Biosynthesis and regeneration of tetrahydrobiopterin and catabolism of phenylalanine pathway from the WikiPathways Pathways 2024 dataset.

Somatroph axis GH and its relationship to dietary restriction and aging Gene Set

From WikiPathways Pathways 2024

proteins participating in the Somatroph axis GH and its relationship to dietary restriction and aging pathway from the WikiPathways Pathways 2024 dataset.

Mechanoregulation and pathology of YAP TAZ via Hippo and non Hippo mechanisms Gene Set

From WikiPathways Pathways 2024

proteins participating in the Mechanoregulation and pathology of YAP TAZ via Hippo and non Hippo mechanisms pathway from the WikiPathways Pathways 2024 dataset.

GLP 1 from intestine and pancreas and role in glucose homeostasis Gene Set

From WikiPathways Pathways 2024

proteins participating in the GLP 1 from intestine and pancreas and role in glucose homeostasis pathway from the WikiPathways Pathways 2024 dataset.

Activation of the mRNA upon binding of the cap-binding complex and eIFs, and subsequent binding to 43S Gene Set

From Reactome Pathways 2024

proteins participating in the Activation of the mRNA upon binding of the cap-binding complex and eIFs, and subsequent binding to 43S pathway from the Reactome Pathways 2024 dataset.

Biosynthesis of protectin and resolvin conjugates in tissue regeneration (PCTR and RCTR) Gene Set

From Reactome Pathways 2024

proteins participating in the Biosynthesis of protectin and resolvin conjugates in tissue regeneration (PCTR and RCTR) pathway from the Reactome Pathways 2024 dataset.

Cooperation of Prefoldin and TriC/CCT in actin and tubulin folding Gene Set

From Reactome Pathways 2024

proteins participating in the Cooperation of Prefoldin and TriC/CCT in actin and tubulin folding pathway from the Reactome Pathways 2024 dataset.

FGFR1c and Klotho ligand binding and activation Gene Set

From Reactome Pathways 2024

proteins participating in the FGFR1c and Klotho ligand binding and activation pathway from the Reactome Pathways 2024 dataset.

MLL4 and MLL3 complexes regulate expression of PPARG target genes in adipogenesis and hepatic steatosis Gene Set

From Reactome Pathways 2024

proteins participating in the MLL4 and MLL3 complexes regulate expression of PPARG target genes in adipogenesis and hepatic steatosis pathway from the Reactome Pathways 2024 dataset.

Orexin and neuropeptides FF and QRFP bind to their respective receptors Gene Set

From Reactome Pathways 2024

proteins participating in the Orexin and neuropeptides FF and QRFP bind to their respective receptors pathway from the Reactome Pathways 2024 dataset.

PI and PC transport between ER and Golgi membranes Gene Set

From Reactome Pathways 2024

proteins participating in the PI and PC transport between ER and Golgi membranes pathway from the Reactome Pathways 2024 dataset.

PTK6 Regulates RTKs and Their Effectors AKT1 and DOK1 Gene Set

From Reactome Pathways 2024

proteins participating in the PTK6 Regulates RTKs and Their Effectors AKT1 and DOK1 pathway from the Reactome Pathways 2024 dataset.

Recruitment and ATM-mediated phosphorylation of repair and signaling proteins at DNA double strand breaks Gene Set

From Reactome Pathways 2024

proteins participating in the Recruitment and ATM-mediated phosphorylation of repair and signaling proteins at DNA double strand breaks pathway from the Reactome Pathways 2024 dataset.

Synthesis and processing of ENV and VPU Gene Set

From Reactome Pathways 2024

proteins participating in the Synthesis and processing of ENV and VPU pathway from the Reactome Pathways 2024 dataset.

Transcriptional and post-translational regulation of MITF-M expression and activity Gene Set

From Reactome Pathways 2024

proteins participating in the Transcriptional and post-translational regulation of MITF-M expression and activity pathway from the Reactome Pathways 2024 dataset.

Transport of bile salts and organic acids, metal ions and amine compounds Gene Set

From Reactome Pathways 2024

proteins participating in the Transport of bile salts and organic acids, metal ions and amine compounds pathway from the Reactome Pathways 2024 dataset.

Transport of nucleosides and free purine and pyrimidine bases across the plasma membrane Gene Set

From Reactome Pathways 2024

proteins participating in the Transport of nucleosides and free purine and pyrimidine bases across the plasma membrane pathway from the Reactome Pathways 2024 dataset.

racemase and epimerase activity, acting on carbohydrates and derivatives Gene Set

From GO Molecular Function Annotations 2025

genes performing the racemase and epimerase activity, acting on carbohydrates and derivatives molecular function from the curated GO Molecular Function Annotations 2025 dataset.

Vertebral anomalies and variable endocrine and T-cell dysfunction Gene Set

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

genes co-occuring with the disease Vertebral anomalies and variable endocrine and T-cell dysfunction in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Vertebral anomalies and variable endocrine and T-cell dysfunction Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Vertebral anomalies and variable endocrine and T-cell dysfunction phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Regulation of gene expression and signal transduction in immune and stress responses Gene Set

From CM4AI U2OS Cell Map Protein Localization Assemblies

proteins comprising Regulation of gene expression and signal transduction in immune and stress responses assembly using integrated AP-MS and IF data from the CM4AI U2OS Cell Map Protein Localization Assemblies dataset.

Gastroesophageal reflux disease, peptic ulcer disease and/or corresponding medications and treatment Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Gastroesophageal reflux disease, peptic ulcer disease and/or corresponding medications and treatment phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

visceral fat deposits and the metabolic syndrome Gene Set

From Biocarta Pathways

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

Foveal hypoplasia and presenile cataract syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

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

From ClinVar Gene-Phenotype Associations

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

Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

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

From ClinVar Gene-Phenotype Associations

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

Craniofacial anomalies and anterior segment dysgenesis syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

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

From ClinVar Gene-Phenotype Associations

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

Rigidity and multifocal seizure syndrome, lethal neonatal Gene Set

From ClinVar Gene-Phenotype Associations

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

Alopecia, neurologic defects, and endocrinopathy syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

Knuckle pads, deafness AND leukonychia syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

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

From ClinVar Gene-Phenotype Associations

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

Jervell and Lange-Nielsen syndrome 2 Gene Set

From ClinVar Gene-Phenotype Associations

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

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

From ClinVar Gene-Phenotype Associations

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

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

From ClinVar Gene-Phenotype Associations

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

Microcephaly, epilepsy, and diabetes syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

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

From ClinVar Gene-Phenotype Associations

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

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

From ClinVar Gene-Phenotype Associations

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

Microcephaly, hiatal hernia and nephrotic syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

Jervell and Lange-Nielsen syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

Cutis Gyrata syndrome of Beare and Stevenson Gene Set

From ClinVar Gene-Phenotype Associations

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

Alacrima, achalasia, and mental retardation syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Alacrima, achalasia, and mental retardation syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 3 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Cutaneous telangiectasia and cancer syndrome, familial Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Cutaneous telangiectasia and cancer syndrome, familial phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Pineal hyperplasia AND diabetes mellitus syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Pineal hyperplasia AND diabetes mellitus syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Camptodactyly, tall stature, and hearing loss syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Camptodactyly, tall stature, and hearing loss syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

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

From CTD Gene-Disease Associations

genes/proteins associated with the disease Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome from the curated CTD Gene-Disease Associations dataset.

Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, and Hirschsprung Disease Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, and Hirschsprung Disease from the curated CTD Gene-Disease Associations dataset.

Keratitis, Ichthyosis, and Deafness (KID) Syndrome Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Keratitis, Ichthyosis, and Deafness (KID) Syndrome from the curated CTD Gene-Disease Associations dataset.

Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 3 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 3 from the curated CTD Gene-Disease Associations dataset.

Cutis Gyrata Syndrome of Beare And Stevenson Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Cutis Gyrata Syndrome of Beare And Stevenson from the curated CTD Gene-Disease Associations dataset.

Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1 from the curated CTD Gene-Disease Associations dataset.

Hereditary Breast and Ovarian Cancer Syndrome Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Hereditary Breast and Ovarian Cancer Syndrome from the curated CTD Gene-Disease Associations dataset.

ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS from the curated CTD Gene-Disease Associations dataset.

Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 2 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 2 from the curated CTD Gene-Disease Associations dataset.

Sarcoma family syndrome of Li and Fraumeni Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Sarcoma family syndrome of Li and Fraumeni from the curated CTD Gene-Disease Associations dataset.

Wilms Tumor, Aniridia, Genitourinary Anomalies, Mental Retardation, and Obesity Syndrome Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Wilms Tumor, Aniridia, Genitourinary Anomalies, Mental Retardation, and Obesity Syndrome from the curated CTD Gene-Disease Associations dataset.

Alport Syndrome, Mental Retardation, Midface Hypoplasia, and Elliptocytosis Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Alport Syndrome, Mental Retardation, Midface Hypoplasia, and Elliptocytosis from the curated CTD Gene-Disease Associations dataset.

Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/Palate Syndrome 3 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/Palate Syndrome 3 from the curated CTD Gene-Disease Associations dataset.

Jervell And Lange-Nielsen Syndrome 2 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Jervell And Lange-Nielsen Syndrome 2 from the curated CTD Gene-Disease Associations dataset.

Alopecia, Neurologic Defects, and Endocrinopathy Syndrome Gene Set

From CTD Gene-Disease Associations

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

Renal cysts and diabetes syndrome Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Renal cysts and diabetes syndrome from the curated CTD Gene-Disease Associations dataset.

blepharophimosis, ptosis, and epicanthus inversus syndrome Gene Set

From DISEASES Curated Gene-Disease Association Evidence Scores

genes involed in the disease blepharophimosis, ptosis, and epicanthus inversus syndrome from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.

tooth and nail syndrome Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores

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

blepharophimosis, ptosis, and epicanthus inversus syndrome Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores

genes co-occuring with the disease blepharophimosis, ptosis, and epicanthus inversus syndrome in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 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.

psoriasis, psoriatic arthritis, and sapho syndrome Gene Set

From GAD Gene-Disease Associations

genes associated with the disease psoriasis, psoriatic arthritis, and sapho syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

jervell and lange-nielsen syndrome Gene Set

From GAD Gene-Disease Associations

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

hyper-igm syndrome can form oligomers and trigger cd40-mediated signals Gene Set

From GAD Gene-Disease Associations

genes associated with the disease hyper-igm syndrome can form oligomers and trigger cd40-mediated signals in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

leigh syndrome and cytochrome c oxidase deficiency Gene Set

From GAD Gene-Disease Associations

genes associated with the disease leigh syndrome and cytochrome c oxidase deficiency in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

complete androgen insensitivity syndrome and sertoli cell adenoma Gene Set

From GAD Gene-Disease Associations

genes associated with the disease complete androgen insensitivity syndrome and sertoli cell adenoma in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

metabolic syndrome and electrocardiographic coronary artery disease Gene Set

From GAD Gene-Disease Associations

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

critical illness; respiratory distress syndrome, adult; wounds and injuries Gene Set

From GAD Gene-Disease Associations

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

systemic inflammatory response syndrome; wounds and injuries Gene Set

From GAD Gene-Disease Associations

genes associated with the disease systemic inflammatory response syndrome; wounds and injuries in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

elevated liver enzymes and metabolic syndrome Gene Set

From GAD Gene-Disease Associations

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

tic; combined vocal and multiple motor; tourette syndrome Gene Set

From GAD Gene-Disease Associations

genes associated with the disease tic; combined vocal and multiple motor; tourette syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

li-fraumeni and related syndrome Gene Set

From GAD Gene-Disease Associations

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

Stevens-Johnson syndrome and toxic epidermal necrolysis (SJS-TEN) Gene Set

From GWAS Catalog SNP-Phenotype Associations

genes associated with the Stevens-Johnson syndrome and toxic epidermal necrolysis (SJS-TEN) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations dataset.

myasthenic syndrome, congenital, associated with facial dysmorphism and acetylcholine receptor deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the myasthenic syndrome, congenital, associated with facial dysmorphism and acetylcholine receptor deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

jervell and lange-nielsen syndrome 2 Gene Set

From OMIM Gene-Disease Associations

genes associated with the jervell and lange-nielsen syndrome 2 phenotype from the curated OMIM Gene-Disease Associations dataset.

lymphedema-distichiasis syndrome with renal disease and diabetes mellitus Gene Set

From OMIM Gene-Disease Associations

genes associated with the lymphedema-distichiasis syndrome with renal disease and diabetes mellitus phenotype from the curated OMIM Gene-Disease Associations dataset.

melanoma and neural system tumor syndrome Gene Set

From OMIM Gene-Disease Associations

genes associated with the melanoma and neural system tumor syndrome phenotype from the curated OMIM Gene-Disease Associations dataset.

craniofacial anomalies and anterior segment dysgenesis syndrome Gene Set

From OMIM Gene-Disease Associations

genes associated with the craniofacial anomalies and anterior segment dysgenesis syndrome phenotype from the curated OMIM Gene-Disease Associations dataset.

renal cysts and diabetes syndrome Gene Set

From OMIM Gene-Disease Associations

genes associated with the renal cysts and diabetes syndrome phenotype from the curated OMIM Gene-Disease Associations dataset.

alacrima, achalasia, and mental retardation syndrome Gene Set

From OMIM Gene-Disease Associations

genes associated with the alacrima, achalasia, and mental retardation syndrome phenotype from the curated OMIM Gene-Disease Associations dataset.

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

From OMIM Gene-Disease Associations

genes associated with the ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 phenotype from the curated OMIM Gene-Disease Associations dataset.

rigidity and multifocal seizure syndrome, lethal neonatal Gene Set

From OMIM Gene-Disease Associations

genes associated with the rigidity and multifocal seizure syndrome, lethal neonatal phenotype from the curated OMIM Gene-Disease Associations dataset.

myelodysplasia and leukemia syndrome with monosomy 7 Gene Set

From OMIM Gene-Disease Associations

genes associated with the myelodysplasia and leukemia syndrome with monosomy 7 phenotype from the curated OMIM Gene-Disease Associations dataset.

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

From OMIM Gene-Disease Associations

genes associated with the mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome phenotype from the curated OMIM Gene-Disease Associations dataset.

aicardi-goutieres syndrome 1, dominant and recessive Gene Set

From OMIM Gene-Disease Associations

genes associated with the aicardi-goutieres syndrome 1, dominant and recessive phenotype from the curated OMIM Gene-Disease Associations dataset.

?cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4 Gene Set

From OMIM Gene-Disease Associations

genes associated with the ?cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4 phenotype from the curated OMIM Gene-Disease Associations dataset.

antley-bixler syndrome with genital anomalies and disordered steroidogenesis Gene Set

From OMIM Gene-Disease Associations

genes associated with the antley-bixler syndrome with genital anomalies and disordered steroidogenesis phenotype from the curated OMIM Gene-Disease Associations dataset.

cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2 Gene Set

From OMIM Gene-Disease Associations

genes associated with the cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2 phenotype from the curated OMIM Gene-Disease Associations dataset.

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

From OMIM Gene-Disease Associations

genes associated with the craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome phenotype from the curated OMIM Gene-Disease Associations dataset.

proliferative vasculopathy and hydraencephaly-hydrocephaly syndrome Gene Set

From OMIM Gene-Disease Associations

genes associated with the proliferative vasculopathy and hydraencephaly-hydrocephaly syndrome phenotype from the curated OMIM Gene-Disease Associations dataset.

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

From OMIM Gene-Disease Associations

genes associated with the interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital phenotype from the curated OMIM Gene-Disease Associations dataset.

ehlers-danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss Gene Set

From OMIM Gene-Disease Associations

genes associated with the ehlers-danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss phenotype from the curated OMIM Gene-Disease Associations dataset.

microcephaly, epilepsy, and diabetes syndrome Gene Set

From OMIM Gene-Disease Associations

genes associated with the microcephaly, epilepsy, and diabetes syndrome phenotype from the curated OMIM Gene-Disease Associations dataset.

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

From OMIM Gene-Disease Associations

genes associated with the 3-methylglutaconic aciduria with deafness, encephalopathy, and leigh-like syndrome phenotype from the curated OMIM Gene-Disease Associations dataset.

jervell and lange-nielsen syndrome Gene Set

From OMIM Gene-Disease Associations

genes associated with the jervell and lange-nielsen syndrome phenotype from the curated OMIM Gene-Disease Associations dataset.

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

From OMIM Gene-Disease Associations

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

autoinflammation, antibody deficiency, and immune dysregulation syndrome Gene Set

From OMIM Gene-Disease Associations

genes associated with the autoinflammation, antibody deficiency, and immune dysregulation syndrome phenotype from the curated OMIM Gene-Disease Associations dataset.

wilms tumor, aniridia, genitourinary anomalies and mental retardation syndrome Gene Set

From OMIM Gene-Disease Associations

genes associated with the wilms tumor, aniridia, genitourinary anomalies and mental retardation syndrome phenotype from the curated OMIM Gene-Disease Associations dataset.

alopecia, neurologic defects, and endocrinopathy syndrome Gene Set

From OMIM Gene-Disease Associations

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

cutaneous telangiectasia and cancer syndrome, familial Gene Set

From OMIM Gene-Disease Associations

genes associated with the cutaneous telangiectasia and cancer syndrome, familial phenotype from the curated OMIM Gene-Disease Associations dataset.

mitochondrial recessive ataxia syndrome (includes sando and scae) Gene Set

From OMIM Gene-Disease Associations

genes associated with the mitochondrial recessive ataxia syndrome (includes sando and scae) phenotype from the curated OMIM Gene-Disease Associations dataset.

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

From OMIM Gene-Disease Associations

genes associated with the cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome phenotype from the curated OMIM Gene-Disease Associations dataset.

autoinflammation, lipodystrophy, and dermatosis syndrome Gene Set

From OMIM Gene-Disease Associations

genes associated with the autoinflammation, lipodystrophy, and dermatosis syndrome phenotype from the curated OMIM Gene-Disease Associations dataset.

alport syndrome, mental retardation, midface hypoplasia, and elliptocytosis Gene Set

From OMIM Gene-Disease Associations

genes associated with the alport syndrome, mental retardation, midface hypoplasia, and elliptocytosis phenotype from the curated OMIM Gene-Disease Associations dataset.

?partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome Gene Set

From OMIM Gene-Disease Associations

genes associated with the ?partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome phenotype from the curated OMIM Gene-Disease Associations dataset.

Tibial Aplasia And Ectrodactyly Syndrome Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Tibial Aplasia And Ectrodactyly Syndrome in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Hereditary Breast And Ovarian Cancer Syndrome Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Hereditary Breast And Ovarian Cancer Syndrome in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Alport Syndrome, Mental Retardation, Midface Hypoplasia, And Elliptocytosis Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Alport Syndrome, Mental Retardation, Midface Hypoplasia, And Elliptocytosis in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

3-Methylglutaconic Aciduria Type Iv With Sensorineural Deafness, Encephalopathy And Leigh-Like Syndrome Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease 3-Methylglutaconic Aciduria Type Iv With Sensorineural Deafness, Encephalopathy And Leigh-Like Syndrome in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Differentiation Syndrome Due To And Following Chemotherapy Co-Occurrent With Acute Promyelocytic Leukemia Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Differentiation Syndrome Due To And Following Chemotherapy Co-Occurrent With Acute Promyelocytic Leukemia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Chronic Infantile Neurological, Cutaneous, And Articular Syndrome Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Chronic Infantile Neurological, Cutaneous, And Articular Syndrome in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Lymphedema, Microcephaly And Chorioretinopathy Syndrome Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Lymphedema, Microcephaly And Chorioretinopathy Syndrome in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Polio And Post-Polio Syndrome Gene Set

From DisGeNET Gene-Disease Associations

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

Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Cutaneous Telangiectasia And Cancer Syndrome, Familial Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Cutaneous Telangiectasia And Cancer Syndrome, Familial in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Wilms Tumor, Aniridia, Genitourinary Anomalies, Mental Retardation, And Obesity Syndrome Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Wilms Tumor, Aniridia, Genitourinary Anomalies, Mental Retardation, And Obesity Syndrome in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Partial Lipodystrophy, Congenital Cataracts, And Neurodegeneration Syndrome Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Partial Lipodystrophy, Congenital Cataracts, And Neurodegeneration Syndrome in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Progressive Encephalopathy With Edema, Hypsarrhythmia, And Optic Atrophy-Like Syndrome Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Progressive Encephalopathy With Edema, Hypsarrhythmia, And Optic Atrophy-Like Syndrome in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Behavioral Syndrome Associated With Physiological Disturbance And Physical Factors Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Behavioral Syndrome Associated With Physiological Disturbance And Physical Factors in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Therapy-Related Acute Myeloid Leukemia And Myelodysplastic Syndrome Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Therapy-Related Acute Myeloid Leukemia And Myelodysplastic Syndrome in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Renal Cysts And Diabetes Syndrome Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Renal Cysts And Diabetes Syndrome in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Cutis Gyrata Syndrome Of Beare And Stevenson Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Cutis Gyrata Syndrome Of Beare And Stevenson in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Lymphedema-Distichiasis Syndrome With Renal Disease And Diabetes Mellitus Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Lymphedema-Distichiasis Syndrome With Renal Disease And Diabetes Mellitus in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Alacrima, Achalasia, And Mental Retardation Syndrome Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Alacrima, Achalasia, And Mental Retardation Syndrome 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.

Vertebral, Cardiac, Renal, And Limb Defects Syndrome Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Vertebral, Cardiac, Renal, And Limb Defects Syndrome in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Mega-Corpus-Callosum Syndrome With Cerebellar Hypoplasia And Cortical Malformations Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Mega-Corpus-Callosum Syndrome With Cerebellar Hypoplasia And Cortical Malformations in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Interstitial Lung Disease, Nephrotic Syndrome, And Epidermolysis Bullosa, Congenital Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Interstitial Lung Disease, Nephrotic Syndrome, And Epidermolysis Bullosa, Congenital in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Jervell And Lange-Nielsen Syndrome 2 (Disorder) Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Jervell And Lange-Nielsen Syndrome 2 (Disorder) in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Periodic Fever, Aphthous Stomatitis, Pharyngitis, And Adenopathy Syndrome [Pfapa] Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Periodic Fever, Aphthous Stomatitis, Pharyngitis, And Adenopathy Syndrome [Pfapa] in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Mitochondrial Encephalopathy, Lactic Acidosis And Stroke-Like Episodes (Melas Syndrome) Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Mitochondrial Encephalopathy, Lactic Acidosis And Stroke-Like Episodes (Melas Syndrome) in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Cerebral Dysgenesis, Neuropathy, Ichthyosis, And Palmoplantar Keratoderma Syndrome Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Cerebral Dysgenesis, Neuropathy, Ichthyosis, And Palmoplantar Keratoderma Syndrome in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Andibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Andibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Heart And Brain Malformation Syndrome Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Heart And Brain Malformation Syndrome in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Facial Onset Sensory And Motor Neuronopathy Syndrome Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Facial Onset Sensory And Motor Neuronopathy Syndrome in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Structural Heart Defects And Renal Anomalies Syndrome Gene Set

From DisGeNET Gene-Disease Associations

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

Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

MECP2 and associated Rett syndrome Gene Set

From WikiPathways Pathways 2024

proteins participating in the MECP2 and associated Rett syndrome pathway from the WikiPathways Pathways 2024 dataset.

Prader Willi and Angelman syndrome Gene Set

From WikiPathways Pathways 2024

proteins participating in the Prader Willi and Angelman syndrome pathway from the WikiPathways Pathways 2024 dataset.

Smith Magenis and Potocki Lupski syndrome copy number variation Gene Set

From WikiPathways Pathways 2024

proteins participating in the Smith Magenis and Potocki Lupski syndrome copy number variation pathway from the WikiPathways Pathways 2024 dataset.

Defective ABCC9 causes CMD10, ATFB12 and Cantu syndrome Gene Set

From Reactome Pathways 2024

proteins participating in the Defective ABCC9 causes CMD10, ATFB12 and Cantu syndrome pathway from the Reactome Pathways 2024 dataset.

contractures, pterygia, and spondylocarpotarsal fusion syndrome Gene Set

From DISEASES Curated Gene-Disease Association Evidence Scores 2025

genes involed in the disease contractures, pterygia, and spondylocarpotarsal fusion syndrome from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset.

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

From DISEASES Curated Gene-Disease Association Evidence Scores 2025

genes involed in the disease Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset.

blepharophimosis, ptosis, and epicanthus inversus syndrome Gene Set

From DISEASES Curated Gene-Disease Association Evidence Scores 2025

genes involed in the disease blepharophimosis, ptosis, and epicanthus inversus syndrome from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset.

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

From DISEASES Curated Gene-Disease Association Evidence Scores 2025

genes involed in the disease 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset.

alopecia, neurologic defects, and endocrinopathy syndrome Gene Set

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

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

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

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

genes co-occuring with the disease 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Hereditary arterial and articular multiple calcification syndrome Gene Set

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

genes co-occuring with the disease Hereditary arterial and articular multiple calcification syndrome in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

hypotonia, ataxia, and delayed development syndrome Gene Set

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

genes co-occuring with the disease hypotonia, ataxia, and delayed development syndrome in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay Gene Set

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

genes co-occuring with the disease Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

alacrima, achalasia, and impaired intellectual development syndrome Gene Set

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

genes co-occuring with the disease alacrima, achalasia, and impaired intellectual development syndrome in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome Gene Set

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

genes co-occuring with the disease Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Salt and pepper syndrome Gene Set

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

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

Agenesis of corpus callosum, cardiac, ocular, and genital syndrome Gene Set

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

genes co-occuring with the disease Agenesis of corpus callosum, cardiac, ocular, and genital syndrome in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

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

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

genes co-occuring with the disease Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Cerebellar ataxia, mental retardation and dysequlibrium syndrome Gene Set

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

genes co-occuring with the disease Cerebellar ataxia, mental retardation and dysequlibrium syndrome in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

blepharophimosis, ptosis, and epicanthus inversus syndrome Gene Set

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

genes co-occuring with the disease blepharophimosis, ptosis, and epicanthus inversus syndrome in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 Gene Set

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

genes co-occuring with the disease ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations Gene Set

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

genes co-occuring with the disease mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

syndactyly-telecanthus-anogenital and renal malformations syndrome Gene Set

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

genes co-occuring with the disease syndactyly-telecanthus-anogenital and renal malformations syndrome in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

contractures, pterygia, and spondylocarpotarsal fusion syndrome Gene Set

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

genes co-occuring with the disease contractures, pterygia, and spondylocarpotarsal fusion syndrome in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 1 Gene Set

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

genes co-occuring with the disease ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 1 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Melanoma and neural system tumor syndrome Gene Set

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

genes co-occuring with the disease Melanoma and neural system tumor syndrome in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Tooth and nail syndrome Gene Set

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

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

contractures, pterygia, and spondylocarpotarsal fusion syndrome 1B Gene Set

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

genes co-occuring with the disease contractures, pterygia, and spondylocarpotarsal fusion syndrome 1B in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Hypertension and brachydactyly syndrome Gene Set

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

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

contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A Gene Set

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

genes co-occuring with the disease contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome 2 Gene Set

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

genes co-occuring with the disease Craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome 2 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome 1 Gene Set

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

genes co-occuring with the disease Craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome 1 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Joubert syndrome and related disorders Gene Set

From ClinVar Gene-Phenotype Associations 2025

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

Jervell and Lange-Nielsen syndrome Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Jervell and Lange-Nielsen syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Fetal akinesia-cerebral and retinal hemorrhage syndrome Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Fetal akinesia-cerebral and retinal hemorrhage syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Syndactyly-telecanthus-anogenital and renal malformations syndrome Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Syndactyly-telecanthus-anogenital and renal malformations syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Melanoma and neural system tumor syndrome Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Melanoma and neural system tumor syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

CDH1-related diffuse gastric and lobular breast cancer syndrome Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the CDH1-related diffuse gastric and lobular breast cancer syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Renal cysts and diabetes syndrome Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Renal cysts and diabetes syndrome 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.

Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Hereditary thrombocytopenia and hematologic cancer predisposition syndrome Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Hereditary thrombocytopenia and hematologic cancer predisposition syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Combined osteogenesis imperfecta and Ehlers-Danlos syndrome Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Combined osteogenesis imperfecta and Ehlers-Danlos syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Hereditary arterial and articular multiple calcification syndrome Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Hereditary arterial and articular multiple calcification syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Progeroid and marfanoid aspect-lipodystrophy syndrome Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Progeroid and marfanoid aspect-lipodystrophy syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Intellectual disability and myopathy syndrome Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Intellectual disability and myopathy syndrome 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.

Gastrointestinal defects and immunodeficiency syndrome Gene Set

From ClinVar Gene-Phenotype Associations 2025

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

Gastrointestinal defect and immunodeficiency syndrome Gene Set

From ClinVar Gene-Phenotype Associations 2025

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

Monosomy 7 myelodysplasia and leukemia syndrome Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Monosomy 7 myelodysplasia and leukemia syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Syndrome of entercolitis and autoinflmmation caused by mutation of NLRC4 Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Syndrome of entercolitis and autoinflmmation caused by mutation of NLRC4 phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Diffuse gastric and lobular breast cancer syndrome Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Diffuse gastric and lobular breast cancer syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

POLE-related polyposis and colorectal cancer syndrome Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the POLE-related polyposis and colorectal cancer syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

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

From ClinVar Gene-Phenotype Associations 2025

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

Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Keratitis ichthyosis and deafness syndrome Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Keratitis ichthyosis and deafness syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Congenital heart defects and skeletal malformations syndrome Gene Set

From ClinVar Gene-Phenotype Associations 2025

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

Structural heart defects and renal anomalies syndrome Gene Set

From ClinVar Gene-Phenotype Associations 2025

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

Juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Childhood-onset motor and cognitive regression syndrome Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Childhood-onset motor and cognitive regression syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Pulmonary fibrosis and/or bone marrow failure syndrome Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Pulmonary fibrosis and/or bone marrow failure syndrome 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.

Focal segmental glomerulosclerosis and neurodevelopmental syndrome Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Focal segmental glomerulosclerosis and neurodevelopmental syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

TRAF7-associated heart defect-digital anomalies-facial dysmorphism-motor and speech delay syndrome Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the TRAF7-associated heart defect-digital anomalies-facial dysmorphism-motor and speech delay syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Heart and brain malformation syndrome Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Heart and brain malformation syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Craniofacial anomalies and anterior segment dysgenesis syndrome Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Craniofacial anomalies and anterior segment dysgenesis syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Genitourinary and/or brain malformation syndrome Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Genitourinary and/or brain malformation syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Congenital anomalies of kidney and urinary tract syndrome Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Congenital anomalies of kidney and urinary tract syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Triokinase and FMN cyclase deficiency syndrome Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Triokinase and FMN cyclase deficiency syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Stevens-Johnson syndrome and toxic epidermal necrolysis (SJS-TEN) Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Stevens-Johnson syndrome and toxic epidermal necrolysis (SJS-TEN) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Polycystic ovary syndrome (adjusted for age and BMI) Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Polycystic ovary syndrome (adjusted for age and BMI) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Duchenne muscular dystrophy Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Duchenne muscular dystrophy phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Cone-rod dystrophy 19 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Cone-rod dystrophy 19 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Cone-rod dystrophy 18 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Cone-rod dystrophy 18 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Cone-rod dystrophy 16 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Cone-rod dystrophy 16 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Cone-rod dystrophy 11 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Cone-rod dystrophy 11 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Patterned dystrophy of retinal pigment epithelium Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Patterned dystrophy of retinal pigment epithelium phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Macular dystrophy, vitelliform, 5 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Macular dystrophy, vitelliform, 5 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

MACULAR CORNEAL DYSTROPHY, TYPE II Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the MACULAR CORNEAL DYSTROPHY, TYPE II phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Limb-girdle muscular dystrophy-dystroglycanopathy, type C14 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Limb-girdle muscular dystrophy-dystroglycanopathy, type C14 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Asphyxiating thoracic dystrophy 4 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Asphyxiating thoracic dystrophy 4 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Asphyxiating thoracic dystrophy 5 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Asphyxiating thoracic dystrophy 5 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Asphyxiating thoracic dystrophy 2 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Asphyxiating thoracic dystrophy 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Fleck corneal dystrophy Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Fleck corneal dystrophy phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Merosin deficient congenital muscular dystrophy Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Merosin deficient congenital muscular dystrophy phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Occult macular dystrophy Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Occult macular dystrophy phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 7 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 7 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Walker-Warburg congenital muscular dystrophy Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Walker-Warburg congenital muscular dystrophy phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B14 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B14 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Limb-girdle muscular dystrophy, type 2S Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Limb-girdle muscular dystrophy, type 2S phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Limb-girdle muscular dystrophy, type 2L Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Limb-girdle muscular dystrophy, type 2L phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Limb-girdle muscular dystrophy, type 2B Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Limb-girdle muscular dystrophy, type 2B phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Limb-girdle muscular dystrophy, type 2A Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Limb-girdle muscular dystrophy, type 2A phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Limb-girdle muscular dystrophy, type 2F Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Limb-girdle muscular dystrophy, type 2F phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Limb-girdle muscular dystrophy, type 2E Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Limb-girdle muscular dystrophy, type 2E phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Limb-girdle muscular dystrophy, type 2D Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Limb-girdle muscular dystrophy, type 2D 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.

Macular corneal dystrophy Type I Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Macular corneal dystrophy Type I phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Bietti crystalline corneoretinal dystrophy Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Bietti crystalline corneoretinal dystrophy phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Cone-rod dystrophy Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Cone-rod dystrophy phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Cone-rod dystrophy 3 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Cone-rod dystrophy 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Cone-rod dystrophy 6 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Cone-rod dystrophy 6 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Lattice corneal dystrophy Type I Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Lattice corneal dystrophy Type I phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Becker muscular dystrophy Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Becker muscular dystrophy phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Cone dystrophy 4 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Cone dystrophy 4 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Cone dystrophy 3 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Cone dystrophy 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Thiel-Behnke corneal dystrophy Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Thiel-Behnke corneal dystrophy phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Reis-Bucklers' corneal dystrophy Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Reis-Bucklers' corneal dystrophy phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Cone-rod dystrophy 9 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Cone-rod dystrophy 9 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Cone-rod dystrophy 7 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Cone-rod dystrophy 7 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Cone-rod dystrophy, X-linked 1 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Cone-rod dystrophy, X-linked 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Vitelliform dystrophy Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Vitelliform dystrophy phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Corneal dystrophy, fuchs endothelial, 8 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Corneal dystrophy, fuchs endothelial, 8 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Corneal dystrophy, fuchs endothelial, 4 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Corneal dystrophy, fuchs endothelial, 4 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Corneal dystrophy, fuchs endothelial, 6 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Corneal dystrophy, fuchs endothelial, 6 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Benign scapuloperoneal muscular dystrophy with cardiomyopathy Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Benign scapuloperoneal muscular dystrophy with cardiomyopathy phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Corneal dystrophy Fuchs endothelial 1 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Corneal dystrophy Fuchs endothelial 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Limb-girdle muscular dystrophy, type 1F Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Limb-girdle muscular dystrophy, type 1F phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Limb-girdle muscular dystrophy, type 1E Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Limb-girdle muscular dystrophy, type 1E phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Eichsfeld type congenital muscular dystrophy Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Eichsfeld type congenital muscular dystrophy phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Congenital muscular dystrophy-dystroglycanopathy without mental retardation, type B5 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Congenital muscular dystrophy-dystroglycanopathy without mental retardation, type B5 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Congenital muscular dystrophy Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Congenital muscular dystrophy phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Facioscapulohumeral muscular dystrophy 2 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Facioscapulohumeral muscular dystrophy 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Schnyder crystalline corneal dystrophy Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Schnyder crystalline corneal dystrophy phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Retinal cone dystrophy 4 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Retinal cone dystrophy 4 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Emery-dreifuss muscular dystrophy 6 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Emery-dreifuss muscular dystrophy 6 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Muscular dystrophy, congenital, due to ITGA7 deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Muscular dystrophy, congenital, due to ITGA7 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

CONE DYSTROPHY 5, X-LINKED Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the CONE DYSTROPHY 5, X-LINKED phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Spondylometaphyseal dysplasia with cone-rod dystrophy Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Spondylometaphyseal dysplasia with cone-rod dystrophy phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Lattice corneal dystrophy type 3A Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Lattice corneal dystrophy type 3A phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Ullrich congenital muscular dystrophy Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Ullrich congenital muscular dystrophy phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Infantile neuroaxonal dystrophy Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Infantile neuroaxonal dystrophy phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Macular dystrophy, vitelliform, 4 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Macular dystrophy, vitelliform, 4 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Corneal endothelial dystrophy type 2 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Corneal endothelial dystrophy type 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Emery-dreifuss muscular dystrophy 4, autosomal dominant Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Emery-dreifuss muscular dystrophy 4, autosomal dominant phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Retinal cone dystrophy 3B Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Retinal cone dystrophy 3B 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.

Congenital muscular dystrophy due to partial LAMA2 deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Congenital muscular dystrophy due to partial LAMA2 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Cone-rod dystrophy amelogenesis imperfecta Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Cone-rod dystrophy amelogenesis imperfecta phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B6 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B6 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B1 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B2 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B3 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Emery-Dreifuss muscular dystrophy, X-linked Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Emery-Dreifuss muscular dystrophy, X-linked phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Limb-girdle muscular dystrophy-dystroglycanopathy, type C4 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Limb-girdle muscular dystrophy-dystroglycanopathy, type C4 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Limb-girdle muscular dystrophy-dystroglycanopathy, type C5 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Limb-girdle muscular dystrophy-dystroglycanopathy, type C5 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Limb-girdle muscular dystrophy-dystroglycanopathy, type C1 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Limb-girdle muscular dystrophy-dystroglycanopathy, type C1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Limb-girdle muscular dystrophy-dystroglycanopathy, type C2 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Limb-girdle muscular dystrophy-dystroglycanopathy, type C2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Emery-Dreifuss muscular dystrophy 7, autosomal dominant Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Emery-Dreifuss muscular dystrophy 7, autosomal dominant phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Lattice corneal dystrophy Type III Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Lattice corneal dystrophy Type III phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Cone-rod dystrophy 20 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Cone-rod dystrophy 20 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Groenouw corneal dystrophy type I Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Groenouw corneal dystrophy type I phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Corneal epithelial dystrophy Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Corneal epithelial dystrophy phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Congenital Stromal Corneal Dystrophy Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Congenital Stromal Corneal Dystrophy phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Emery-Dreifuss muscular dystrophy 1, X-linked Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Emery-Dreifuss muscular dystrophy 1, X-linked phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Miyoshi Muscular Dystrophy 2 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Miyoshi Muscular Dystrophy 2 from the curated CTD Gene-Disease Associations dataset.

Miyoshi Muscular Dystrophy 3 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Miyoshi Muscular Dystrophy 3 from the curated CTD Gene-Disease Associations dataset.

Corneal dystrophy, gelatinous drop-like Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Corneal dystrophy, gelatinous drop-like from the curated CTD Gene-Disease Associations dataset.

Corneal Dystrophy, Juvenile Epithelial of Meesmann Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Corneal Dystrophy, Juvenile Epithelial of Meesmann from the curated CTD Gene-Disease Associations dataset.

Retinal Cone Dystrophy 1 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Retinal Cone Dystrophy 1 from the curated CTD Gene-Disease Associations dataset.

Facioscapulohumeral muscular dystrophy 1a Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Facioscapulohumeral muscular dystrophy 1a from the curated CTD Gene-Disease Associations dataset.

Retinal Cone Dystrophy 3A Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Retinal Cone Dystrophy 3A from the curated CTD Gene-Disease Associations dataset.

Macular dystrophy, retinal, 1, North Carolina type Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Macular dystrophy, retinal, 1, North Carolina type from the curated CTD Gene-Disease Associations dataset.

Cone-Rod Dystrophy 8 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Cone-Rod Dystrophy 8 from the curated CTD Gene-Disease Associations dataset.

Cone-Rod Dystrophy 3 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Cone-Rod Dystrophy 3 from the curated CTD Gene-Disease Associations dataset.

Cone-Rod Dystrophy 7 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Cone-Rod Dystrophy 7 from the curated CTD Gene-Disease Associations dataset.

Cone-Rod Dystrophy 5 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Cone-Rod Dystrophy 5 from the curated CTD Gene-Disease Associations dataset.

Corneal dystrophy Avellino type Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Corneal dystrophy Avellino type from the curated CTD Gene-Disease Associations dataset.

Retinal Cone Dystrophy 3B Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Retinal Cone Dystrophy 3B from the curated CTD Gene-Disease Associations dataset.

Corneal Dystrophy, Fuchs Endothelial, 6 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Corneal Dystrophy, Fuchs Endothelial, 6 from the curated CTD Gene-Disease Associations dataset.

Corneal Dystrophy, Fuchs Endothelial, 3 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Corneal Dystrophy, Fuchs Endothelial, 3 from the curated CTD Gene-Disease Associations dataset.

Macular dystrophy, atypical vitelliform Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Macular dystrophy, atypical vitelliform from the curated CTD Gene-Disease Associations dataset.

Macular dystrophy, concentric annular Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Macular dystrophy, concentric annular from the curated CTD Gene-Disease Associations dataset.

MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1H Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1H from the curated CTD Gene-Disease Associations dataset.

Cone-Rod Dystrophy 13 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Cone-Rod Dystrophy 13 from the curated CTD Gene-Disease Associations dataset.

Muscular Dystrophy, Animal Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Muscular Dystrophy, Animal from the curated CTD Gene-Disease Associations dataset.

Corneal Dystrophy, Endothelial, X-Linked Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Corneal Dystrophy, Endothelial, X-Linked from the curated CTD Gene-Disease Associations dataset.

Macular Dystrophy, Retinal, 2 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Macular Dystrophy, Retinal, 2 from the curated CTD Gene-Disease Associations dataset.

Limb-girdle muscular dystrophy type 2F Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Limb-girdle muscular dystrophy type 2F from the curated CTD Gene-Disease Associations dataset.

Lattice corneal dystrophy type 1 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Lattice corneal dystrophy type 1 from the curated CTD Gene-Disease Associations dataset.

Corneal dystrophy, Fuchs' endothelial, 2 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Corneal dystrophy, Fuchs' endothelial, 2 from the curated CTD Gene-Disease Associations dataset.

Muscular dystrophy congenital, merosin negative Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Muscular dystrophy congenital, merosin negative from the curated CTD Gene-Disease Associations dataset.

Bullous Dystrophy, Hereditary Macular Type Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Bullous Dystrophy, Hereditary Macular Type from the curated CTD Gene-Disease Associations dataset.

Reflex Sympathetic Dystrophy Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Reflex Sympathetic Dystrophy from the curated CTD Gene-Disease Associations dataset.

Corneal Dystrophy, Crystalline, of Schnyder Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Corneal Dystrophy, Crystalline, of Schnyder from the curated CTD Gene-Disease Associations dataset.

Scleroatonic muscular dystrophy Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Scleroatonic muscular dystrophy from the curated CTD Gene-Disease Associations dataset.

Cone Dystrophy 3 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Cone Dystrophy 3 from the curated CTD Gene-Disease Associations dataset.

Corneal dystrophy, Fuchs' endothelial, 1 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Corneal dystrophy, Fuchs' endothelial, 1 from the curated CTD Gene-Disease Associations dataset.

MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 4 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 4 from the curated CTD Gene-Disease Associations dataset.

MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 3 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 3 from the curated CTD Gene-Disease Associations dataset.

MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 1 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 1 from the curated CTD Gene-Disease Associations dataset.

Patterned dystrophy of retinal pigment epithelium Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Patterned dystrophy of retinal pigment epithelium from the curated CTD Gene-Disease Associations dataset.

Corneal Dystrophy, Lisch Epithelial Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Corneal Dystrophy, Lisch Epithelial from the curated CTD Gene-Disease Associations dataset.

Limb-girdle muscular dystrophy, type 2C Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Limb-girdle muscular dystrophy, type 2C from the curated CTD Gene-Disease Associations dataset.

Limb-girdle muscular dystrophy, type 2B Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Limb-girdle muscular dystrophy, type 2B from the curated CTD Gene-Disease Associations dataset.

Corneal dystrophy, epithelial basement membrane Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Corneal dystrophy, epithelial basement membrane from the curated CTD Gene-Disease Associations dataset.

Muscular Dystrophy, Limb-Girdle, Type 2J Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Muscular Dystrophy, Limb-Girdle, Type 2J from the curated CTD Gene-Disease Associations dataset.

Muscular Dystrophy, Emery-Dreifuss Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Muscular Dystrophy, Emery-Dreifuss from the curated CTD Gene-Disease Associations dataset.

MACULAR DYSTROPHY, RETINAL, 3 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease MACULAR DYSTROPHY, RETINAL, 3 from the curated CTD Gene-Disease Associations dataset.

Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency from the curated CTD Gene-Disease Associations dataset.

Bothnia Retinal Dystrophy Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Bothnia Retinal Dystrophy from the curated CTD Gene-Disease Associations dataset.

Cone-Rod Dystrophy, X-Linked, 2 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Cone-Rod Dystrophy, X-Linked, 2 from the curated CTD Gene-Disease Associations dataset.

Cone-Rod Dystrophy, X-Linked, 3 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Cone-Rod Dystrophy, X-Linked, 3 from the curated CTD Gene-Disease Associations dataset.

Cone Dystrophy 4 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Cone Dystrophy 4 from the curated CTD Gene-Disease Associations dataset.

Corneal endothelial dystrophy type 2 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Corneal endothelial dystrophy type 2 from the curated CTD Gene-Disease Associations dataset.

CONE-ROD DYSTROPHY 9 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease CONE-ROD DYSTROPHY 9 from the curated CTD Gene-Disease Associations dataset.

CONE-ROD DYSTROPHY 2 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease CONE-ROD DYSTROPHY 2 from the curated CTD Gene-Disease Associations dataset.

Muscular Dystrophy, Congenital, 1B Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Muscular Dystrophy, Congenital, 1B from the curated CTD Gene-Disease Associations dataset.

MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2Q Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2Q from the curated CTD Gene-Disease Associations dataset.

Muscular Dystrophy, Limb-Girdle, Type 2L Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Muscular Dystrophy, Limb-Girdle, Type 2L from the curated CTD Gene-Disease Associations dataset.

Doyne honeycomb retinal dystrophy Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Doyne honeycomb retinal dystrophy from the curated CTD Gene-Disease Associations dataset.

Bietti Crystalline Dystrophy Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Bietti Crystalline Dystrophy from the curated CTD Gene-Disease Associations dataset.

Muscular Dystrophy, Facioscapulohumeral Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Muscular Dystrophy, Facioscapulohumeral from the curated CTD Gene-Disease Associations dataset.

OCCULT MACULAR DYSTROPHY Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease OCCULT MACULAR DYSTROPHY from the curated CTD Gene-Disease Associations dataset.

MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 6 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 6 from the curated CTD Gene-Disease Associations dataset.

MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 1 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 1 from the curated CTD Gene-Disease Associations dataset.

MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 3 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 3 from the curated CTD Gene-Disease Associations dataset.

Choroidal Dystrophy, Central Areolar 2 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Choroidal Dystrophy, Central Areolar 2 from the curated CTD Gene-Disease Associations dataset.

Asphyxiating Thoracic Dystrophy 2 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Asphyxiating Thoracic Dystrophy 2 from the curated CTD Gene-Disease Associations dataset.

Muscular Dystrophy, Oculopharyngeal Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Muscular Dystrophy, Oculopharyngeal from the curated CTD Gene-Disease Associations dataset.

Corneal Dystrophy, Fleck Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Corneal Dystrophy, Fleck from the curated CTD Gene-Disease Associations dataset.

Limb-girdle muscular dystrophy, type 1B Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Limb-girdle muscular dystrophy, type 1B from the curated CTD Gene-Disease Associations dataset.

Muscular Dystrophy, Congenital, Merosin-Positive Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Muscular Dystrophy, Congenital, Merosin-Positive from the curated CTD Gene-Disease Associations dataset.

MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 2 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 2 from the curated CTD Gene-Disease Associations dataset.

Cone-Rod Dystrophy 1 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Cone-Rod Dystrophy 1 from the curated CTD Gene-Disease Associations dataset.

Limb-girdle muscular dystrophy type 2H Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Limb-girdle muscular dystrophy type 2H from the curated CTD Gene-Disease Associations dataset.

Toenail Dystrophy, Isolated Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Toenail Dystrophy, Isolated from the curated CTD Gene-Disease Associations dataset.

Retinal cone dystrophy 2 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Retinal cone dystrophy 2 from the curated CTD Gene-Disease Associations dataset.

Corneal Dystrophy, Posterior Polymorphous, 2 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Corneal Dystrophy, Posterior Polymorphous, 2 from the curated CTD Gene-Disease Associations dataset.

Limb-girdle muscular dystrophy, type 2E Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Limb-girdle muscular dystrophy, type 2E from the curated CTD Gene-Disease Associations dataset.

Muscular Dystrophy, Limb-Girdle, Type 1C Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Muscular Dystrophy, Limb-Girdle, Type 1C from the curated CTD Gene-Disease Associations dataset.

Fundus Dystrophy, Pseudoinflammatory, Of Sorsby Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Fundus Dystrophy, Pseudoinflammatory, Of Sorsby from the curated CTD Gene-Disease Associations dataset.

Myotonic Dystrophy Gene Set

From CTD Gene-Disease Associations

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

Facioscapulohumeral Muscular Dystrophy 1B Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Facioscapulohumeral Muscular Dystrophy 1B from the curated CTD Gene-Disease Associations dataset.

Muscular dystrophy, limb-girdle, type 1A Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Muscular dystrophy, limb-girdle, type 1A from the curated CTD Gene-Disease Associations dataset.

Corneal Dystrophy, Fuchs Endothelial, 7 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Corneal Dystrophy, Fuchs Endothelial, 7 from the curated CTD Gene-Disease Associations dataset.

Muscular Dystrophy, Limb-Girdle, Type 2G Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Muscular Dystrophy, Limb-Girdle, Type 2G from the curated CTD Gene-Disease Associations dataset.

Limb-girdle muscular dystrophy type 2A Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Limb-girdle muscular dystrophy type 2A from the curated CTD Gene-Disease Associations dataset.

Corneal Dystrophy, Posterior Polymorphous, 1 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Corneal Dystrophy, Posterior Polymorphous, 1 from the curated CTD Gene-Disease Associations dataset.

Corneal Dystrophy, Posterior Polymorphous, 3 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Corneal Dystrophy, Posterior Polymorphous, 3 from the curated CTD Gene-Disease Associations dataset.

CORNEAL ENDOTHELIAL DYSTROPHY 1, AUTOSOMAL DOMINANT Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease CORNEAL ENDOTHELIAL DYSTROPHY 1, AUTOSOMAL DOMINANT from the curated CTD Gene-Disease Associations dataset.

Vitelliform Macular Dystrophy Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Vitelliform Macular Dystrophy from the curated CTD Gene-Disease Associations dataset.

Corneal Dystrophy, Congenital Stromal Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Corneal Dystrophy, Congenital Stromal from the curated CTD Gene-Disease Associations dataset.

MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH OR WITHOUT MENTAL RETARDATION), TYPE B, 5 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH OR WITHOUT MENTAL RETARDATION), TYPE B, 5 from the curated CTD Gene-Disease Associations dataset.

Choroidal dystrophy central areolar Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Choroidal dystrophy central areolar from the curated CTD Gene-Disease Associations dataset.

MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 5 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 5 from the curated CTD Gene-Disease Associations dataset.

Corneal dystrophy, Thiel-Behnke type Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Corneal dystrophy, Thiel-Behnke type from the curated CTD Gene-Disease Associations dataset.

Cone-Rod Dystrophy 12 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Cone-Rod Dystrophy 12 from the curated CTD Gene-Disease Associations dataset.

Cone-Rod Dystrophy 11 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Cone-Rod Dystrophy 11 from the curated CTD Gene-Disease Associations dataset.

Cone-Rod Dystrophy 10 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Cone-Rod Dystrophy 10 from the curated CTD Gene-Disease Associations dataset.

MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITHOUT MENTAL RETARDATION), TYPE B, 4 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITHOUT MENTAL RETARDATION), TYPE B, 4 from the curated CTD Gene-Disease Associations dataset.

MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 2 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 2 from the curated CTD Gene-Disease Associations dataset.

CONE-ROD DYSTROPHY, X-LINKED, 1 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease CONE-ROD DYSTROPHY, X-LINKED, 1 from the curated CTD Gene-Disease Associations dataset.

Newfoundland Rod-Cone Dystrophy Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Newfoundland Rod-Cone Dystrophy from the curated CTD Gene-Disease Associations dataset.

Groenouw type I corneal dystrophy Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Groenouw type I corneal dystrophy from the curated CTD Gene-Disease Associations dataset.

CONE-ROD DYSTROPHY 15 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease CONE-ROD DYSTROPHY 15 from the curated CTD Gene-Disease Associations dataset.

Corneal Dystrophy, Lattice Type IIIA Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Corneal Dystrophy, Lattice Type IIIA from the curated CTD Gene-Disease Associations dataset.

Retinal Cone Dystrophy 4 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Retinal Cone Dystrophy 4 from the curated CTD Gene-Disease Associations dataset.

Corneal Dystrophy, Fuchs Endothelial, 5 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Corneal Dystrophy, Fuchs Endothelial, 5 from the curated CTD Gene-Disease Associations dataset.

Muscular Dystrophy, Duchenne Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Muscular Dystrophy, Duchenne from the curated CTD Gene-Disease Associations dataset.

Corneal Dystrophy, Fuchs Endothelial, 4 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Corneal Dystrophy, Fuchs Endothelial, 4 from the curated CTD Gene-Disease Associations dataset.

Corneal dystrophy of Bowman layer, type 1 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Corneal dystrophy of Bowman layer, type 1 from the curated CTD Gene-Disease Associations dataset.

Macular dystrophy, corneal type 1 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Macular dystrophy, corneal type 1 from the curated CTD Gene-Disease Associations dataset.

Muscular Dystrophy, Congenital, Lmna-Related Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Muscular Dystrophy, Congenital, Lmna-Related from the curated CTD Gene-Disease Associations dataset.

Limb-Girdle Muscular Dystrophy, Type 1G Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Limb-Girdle Muscular Dystrophy, Type 1G from the curated CTD Gene-Disease Associations dataset.

Fuchs Endothelial Dystrophy Gene Set

From dbGAP Gene-Trait Associations

genes associated with the trait Fuchs Endothelial Dystrophy in GWAS and other genetic association datasets from the dbGAP Gene-Trait Associations dataset.

oculopharyngeal muscular dystrophy Gene Set

From DISEASES Curated Gene-Disease Association Evidence Scores

genes involed in the disease oculopharyngeal muscular dystrophy from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.

limb-girdle muscular dystrophy Gene Set

From DISEASES Curated Gene-Disease Association Evidence Scores

genes involed in the disease limb-girdle muscular dystrophy from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.

muscular dystrophy Gene Set

From DISEASES Curated Gene-Disease Association Evidence Scores

genes involed in the disease muscular dystrophy from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.

facioscapulohumeral muscular dystrophy Gene Set

From DISEASES Curated Gene-Disease Association Evidence Scores

genes involed in the disease facioscapulohumeral muscular dystrophy from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.

ullrich congenital muscular dystrophy Gene Set

From DISEASES Curated Gene-Disease Association Evidence Scores

genes involed in the disease ullrich congenital muscular dystrophy from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.

fukuyama congenital muscular dystrophy Gene Set

From DISEASES Curated Gene-Disease Association Evidence Scores

genes involed in the disease fukuyama congenital muscular dystrophy from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.

cone-rod dystrophy Gene Set

From DISEASES Curated Gene-Disease Association Evidence Scores

genes involed in the disease cone-rod dystrophy from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.

asphyxiating thoracic dystrophy Gene Set

From DISEASES Curated Gene-Disease Association Evidence Scores

genes involed in the disease asphyxiating thoracic dystrophy from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.

emery-dreifuss muscular dystrophy Gene Set

From DISEASES Curated Gene-Disease Association Evidence Scores

genes involed in the disease emery-dreifuss muscular dystrophy from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.

vitelliform macular dystrophy Gene Set

From DISEASES Curated Gene-Disease Association Evidence Scores

genes involed in the disease vitelliform macular dystrophy from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.

congenital muscular dystrophy Gene Set

From DISEASES Curated Gene-Disease Association Evidence Scores

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

myotonic dystrophy type 1 Gene Set

From DISEASES Curated Gene-Disease Association Evidence Scores

genes involed in the disease myotonic dystrophy type 1 from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.

muscular dystrophy Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores

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

partial central choroid dystrophy Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores

genes co-occuring with the disease partial central choroid dystrophy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

lattice corneal dystrophy Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores

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

distal muscular dystrophy Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores

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

oculopharyngeal muscular dystrophy Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores

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

vitelliform macular dystrophy Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores

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

corneal granular dystrophy Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores

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

facioscapulohumeral muscular dystrophy Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores

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

hereditary retinal dystrophy Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores

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

corneal dystrophy Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores

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

limb-girdle muscular dystrophy Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores

genes co-occuring with the disease limb-girdle muscular dystrophy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

reflex sympathetic dystrophy Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores

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

ullrich congenital muscular dystrophy Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores

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

vulvar dystrophy Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores

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

occult macular dystrophy Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores

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

fuchs' endothelial dystrophy Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores

genes co-occuring with the disease fuchs' endothelial dystrophy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

becker muscular dystrophy Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores

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

cone-rod dystrophy Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores

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

macular corneal dystrophy Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores

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

emery-dreifuss muscular dystrophy Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores

genes co-occuring with the disease emery-dreifuss muscular dystrophy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

asphyxiating thoracic dystrophy Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores

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

bietti crystalline corneoretinal dystrophy Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores

genes co-occuring with the disease bietti crystalline corneoretinal dystrophy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

congenital muscular dystrophy Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores

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

neuroaxonal dystrophy Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores

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

fundus dystrophy Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores

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

fukuyama congenital muscular dystrophy Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores

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

vitreoretinal dystrophy Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores

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

duchenne muscular dystrophy Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores

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

myotonic dystrophy type 1 Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores

genes co-occuring with the disease myotonic dystrophy type 1 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

muscular dystrophy-dystroglycanopathy Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores

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

myotonic dystrophy type 2 Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores

genes co-occuring with the disease myotonic dystrophy type 2 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

cone dystrophy Gene Set

From GAD Gene-Disease Associations

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

cone-rod dystrophy Gene Set

From GAD Gene-Disease Associations

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

machado-joseph disease; myoclonic epilepsies, progressive; myotonic dystrophy; oligospermia; spinocerebellar ataxias Gene Set

From GAD Gene-Disease Associations

genes associated with the disease machado-joseph disease; myoclonic epilepsies, progressive; myotonic dystrophy; oligospermia; spinocerebellar ataxias in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

granular corneal dystrophy Gene Set

From GAD Gene-Disease Associations

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

fuchs endothelial dystrophy Gene Set

From GAD Gene-Disease Associations

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

gelatinous droplike corneal dystrophy Gene Set

From GAD Gene-Disease Associations

genes associated with the disease gelatinous droplike corneal dystrophy in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

myotonic dystrophy type 1 Gene Set

From GAD Gene-Disease Associations

genes associated with the disease myotonic dystrophy type 1 in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

muscular dystrophy Gene Set

From GAD Gene-Disease Associations

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

macular corneal dystrophy. Gene Set

From GAD Gene-Disease Associations

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

spinocerebellar ataxia; muscular dystrophy; neuropathy Gene Set

From GAD Gene-Disease Associations

genes associated with the disease spinocerebellar ataxia; muscular dystrophy; neuropathy in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

corneal dystrophies, hereditary; hereditary corneal dystrophy Gene Set

From GAD Gene-Disease Associations

genes associated with the disease corneal dystrophies, hereditary; hereditary corneal dystrophy in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

mental retardation; muscular dystrophy, duchenne Gene Set

From GAD Gene-Disease Associations

genes associated with the disease mental retardation; muscular dystrophy, duchenne in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

muscular dystrophy, oculopharyngeal Gene Set

From GAD Gene-Disease Associations

genes associated with the disease muscular dystrophy, oculopharyngeal in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

retinitis pigmentosa; macular dystrophy Gene Set

From GAD Gene-Disease Associations

genes associated with the disease retinitis pigmentosa; macular dystrophy in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

atrioventricular block; myotonic dystrophy Gene Set

From GAD Gene-Disease Associations

genes associated with the disease atrioventricular block; myotonic dystrophy in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

ullrich congenital muscular dystrophy Gene Set

From GAD Gene-Disease Associations

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

chromosome disorders; myotonic dystrophy Gene Set

From GAD Gene-Disease Associations

genes associated with the disease chromosome disorders; myotonic dystrophy in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

carotid artery intima-media thickness; spinocerebellar ataxia; huntington's disease; myotonic dystrophy Gene Set

From GAD Gene-Disease Associations

genes associated with the disease carotid artery intima-media thickness; spinocerebellar ataxia; huntington's disease; myotonic dystrophy in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

fuchs' endothelial dystrophy Gene Set

From GAD Gene-Disease Associations

genes associated with the disease fuchs' endothelial dystrophy in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

lattice corneal dystrophy type 1 Gene Set

From GAD Gene-Disease Associations

genes associated with the disease lattice corneal dystrophy type 1 in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

duchenne muscular dystrophy Gene Set

From GAD Gene-Disease Associations

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

cone-rod dystrophy; retinitis pigmentosa Gene Set

From GAD Gene-Disease Associations

genes associated with the disease cone-rod dystrophy; retinitis pigmentosa in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

fibromyalgia; myotonic dystrophy Gene Set

From GAD Gene-Disease Associations

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

recessive cone-rod dystrophy Gene Set

From GAD Gene-Disease Associations

genes associated with the disease recessive cone-rod dystrophy in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

corneal dystrophies, hereditary; hereditary corneal dystrophy; hernia, abdominal Gene Set

From GAD Gene-Disease Associations

genes associated with the disease corneal dystrophies, hereditary; hereditary corneal dystrophy; hernia, abdominal in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

myotonic dystrophy Gene Set

From GAD Gene-Disease Associations

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

macular corneal dystrophy Gene Set

From GAD Gene-Disease Associations

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

pain, postoperative; radius fractures; reflex sympathetic dystrophy Gene Set

From GAD Gene-Disease Associations

genes associated with the disease pain, postoperative; radius fractures; reflex sympathetic dystrophy in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

muscular dystrophy, duchenne Gene Set

From GAD Gene-Disease Associations

genes associated with the disease muscular dystrophy, duchenne in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

dystrophy Gene Set

From GeneRIF Biological Term Annotations

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

Duchenne muscular dystrophy (DMD)_Extraocular muscle_GSE1472 Gene Set

From GEO Signatures of Differentially Expressed Genes for Diseases

genes differentially expressed during Duchenne muscular dystrophy (DMD)_Extraocular muscle_GSE1472 disease perturbation from the GEO Signatures of Differentially Expressed Genes for Diseases dataset.

Duchenne muscular dystrophy (DMD)_Muscle - Striated (Skeletal) - Diaphragm (MMHCC)_GSE1026 Gene Set

From GEO Signatures of Differentially Expressed Genes for Diseases

genes differentially expressed during Duchenne muscular dystrophy (DMD)_Muscle - Striated (Skeletal) - Diaphragm (MMHCC)_GSE1026 disease perturbation from the GEO Signatures of Differentially Expressed Genes for Diseases dataset.

Duchenne muscular dystrophy (DMD)_Extraocular muscle_GSE1008 Gene Set

From GEO Signatures of Differentially Expressed Genes for Diseases

genes differentially expressed during Duchenne muscular dystrophy (DMD)_Extraocular muscle_GSE1008 disease perturbation from the GEO Signatures of Differentially Expressed Genes for Diseases dataset.

Duchenne muscular dystrophy (DMD)_Muscle - Striated (Skeletal) (MMHCC)_GSE1025 Gene Set

From GEO Signatures of Differentially Expressed Genes for Diseases

genes differentially expressed during Duchenne muscular dystrophy (DMD)_Muscle - Striated (Skeletal) (MMHCC)_GSE1025 disease perturbation from the GEO Signatures of Differentially Expressed Genes for Diseases dataset.

Fuchs's corneal dystrophy Gene Set

From GWAS Catalog SNP-Phenotype Associations

genes associated with the Fuchs's corneal dystrophy phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations dataset.

corneal dystrophy Gene Set

From GWASdb SNP-Disease Associations

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

nail dystrophy Gene Set

From HPO Gene-Disease Associations

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

polymorphous posterior corneal dystrophy Gene Set

From HPO Gene-Disease Associations

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

lattice corneal dystrophy Gene Set

From HPO Gene-Disease Associations

genes associated with the lattice corneal dystrophy phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

retinal dystrophy Gene Set

From HPO Gene-Disease Associations

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

limb-girdle muscular dystrophy Gene Set

From HPO Gene-Disease Associations

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

cone-rod dystrophy Gene Set

From HPO Gene-Disease Associations

genes associated with the cone-rod dystrophy phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

macroreticular retinal dystrophy Gene Set

From HPO Gene-Disease Associations

genes associated with the macroreticular retinal dystrophy phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

congenital corneal dystrophy Gene Set

From HPO Gene-Disease Associations

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

granular corneal dystrophy Gene Set

From HPO Gene-Disease Associations

genes associated with the granular corneal dystrophy phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

map-dot-fingerprint corneal dystrophy Gene Set

From HPO Gene-Disease Associations

genes associated with the map-dot-fingerprint corneal dystrophy phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

muscular dystrophy Gene Set

From HPO Gene-Disease Associations

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

speckled corneal dystrophy Gene Set

From HPO Gene-Disease Associations

genes associated with the speckled corneal dystrophy phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

crystalline corneal dystrophy Gene Set

From HPO Gene-Disease Associations

genes associated with the crystalline corneal dystrophy phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

choroidal dystrophy Gene Set

From HPO Gene-Disease Associations

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

chorioretinal dystrophy Gene Set

From HPO Gene-Disease Associations

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

marginal corneal dystrophy Gene Set

From HPO Gene-Disease Associations

genes associated with the marginal corneal dystrophy phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

nodular corneal dystrophy Gene Set

From HPO Gene-Disease Associations

genes associated with the nodular corneal dystrophy phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

nonprogressive congenital retinal dystrophy Gene Set

From HPO Gene-Disease Associations

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

juvenile epithelial corneal dystrophy Gene Set

From HPO Gene-Disease Associations

genes associated with the juvenile epithelial corneal dystrophy phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

macular dystrophy Gene Set

From HPO Gene-Disease Associations

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

mosaic corneal dystrophy Gene Set

From HPO Gene-Disease Associations

genes associated with the mosaic corneal dystrophy phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

punctate corneal dystrophy Gene Set

From HPO Gene-Disease Associations

genes associated with the punctate corneal dystrophy phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

reticular retinal dystrophy Gene Set

From HPO Gene-Disease Associations

genes associated with the reticular retinal dystrophy phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

congenital muscular dystrophy Gene Set

From HPO Gene-Disease Associations

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

corneal dystrophy Gene Set

From HPO Gene-Disease Associations

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

Reflex Sympathetic Dystrophy Gene Set

From HuGE Navigator Gene-Phenotype Associations

genes associated with the Reflex Sympathetic Dystrophy phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset.

Muscular Dystrophy, Emery-Dreifuss Gene Set

From HuGE Navigator Gene-Phenotype Associations

genes associated with the Muscular Dystrophy, Emery-Dreifuss phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset.

Vitelliform Macular Dystrophy Gene Set

From HuGE Navigator Gene-Phenotype Associations

genes associated with the Vitelliform Macular Dystrophy phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset.

Muscular Dystrophy, Facioscapulohumeral Gene Set

From HuGE Navigator Gene-Phenotype Associations

genes associated with the Muscular Dystrophy, Facioscapulohumeral phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset.

Myotonic Dystrophy Gene Set

From HuGE Navigator Gene-Phenotype Associations

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

Muscular Dystrophy, Duchenne Gene Set

From HuGE Navigator Gene-Phenotype Associations

genes associated with the Muscular Dystrophy, Duchenne phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset.

Myotonic dystrophy protein kinase, coiled coil Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Myotonic dystrophy protein kinase, coiled coil protein domain from the InterPro Predicted Protein Domain Annotations dataset.

nail dystrophy Gene Set

From MPO Gene-Phenotype Associations

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

axonal dystrophy Gene Set

From MPO Gene-Phenotype Associations

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

corneal dystrophy, schnyder type Gene Set

From OMIM Gene-Disease Associations

genes associated with the corneal dystrophy, schnyder type phenotype from the curated OMIM Gene-Disease Associations dataset.

fascioscapulohumeral muscular dystrophy 2, digenic Gene Set

From OMIM Gene-Disease Associations

genes associated with the fascioscapulohumeral muscular dystrophy 2, digenic phenotype from the curated OMIM Gene-Disease Associations dataset.

newfoundland rod-cone dystrophy Gene Set

From OMIM Gene-Disease Associations

genes associated with the newfoundland rod-cone dystrophy phenotype from the curated OMIM Gene-Disease Associations dataset.

cone dystrophy-3 Gene Set

From OMIM Gene-Disease Associations

genes associated with the cone dystrophy-3 phenotype from the curated OMIM Gene-Disease Associations dataset.

bothnia retinal dystrophy Gene Set

From OMIM Gene-Disease Associations

genes associated with the bothnia retinal dystrophy phenotype from the curated OMIM Gene-Disease Associations dataset.

muscular dystrophy, congenital, megaconial type Gene Set

From OMIM Gene-Disease Associations

genes associated with the muscular dystrophy, congenital, megaconial type phenotype from the curated OMIM Gene-Disease Associations dataset.

occult macular dystrophy Gene Set

From OMIM Gene-Disease Associations

genes associated with the occult macular dystrophy phenotype from the curated OMIM Gene-Disease Associations dataset.

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.

cone-rod dystrophy 19 Gene Set

From OMIM Gene-Disease Associations

genes associated with the cone-rod dystrophy 19 phenotype from the curated OMIM Gene-Disease Associations dataset.

cone-rod dystrophy 18 Gene Set

From OMIM Gene-Disease Associations

genes associated with the cone-rod dystrophy 18 phenotype from the curated OMIM Gene-Disease Associations dataset.

cone-rod dystrophy 17 Gene Set

From OMIM Gene-Disease Associations

genes associated with the cone-rod dystrophy 17 phenotype from the curated OMIM Gene-Disease Associations dataset.

cone-rod dystrophy 16 Gene Set

From OMIM Gene-Disease Associations

genes associated with the cone-rod dystrophy 16 phenotype from the curated OMIM Gene-Disease Associations dataset.

cone-rod dystrophy 15 Gene Set

From OMIM Gene-Disease Associations

genes associated with the cone-rod dystrophy 15 phenotype from the curated OMIM Gene-Disease Associations dataset.

cone-rod dystrophy 14 Gene Set

From OMIM Gene-Disease Associations

genes associated with the cone-rod dystrophy 14 phenotype from the curated OMIM Gene-Disease Associations dataset.

cone-rod dystrophy 13 Gene Set

From OMIM Gene-Disease Associations

genes associated with the cone-rod dystrophy 13 phenotype from the curated OMIM Gene-Disease Associations dataset.

cone-rod dystrophy 12 Gene Set

From OMIM Gene-Disease Associations

genes associated with the cone-rod dystrophy 12 phenotype from the curated OMIM Gene-Disease Associations dataset.

cone-rod dystrophy 11 Gene Set

From OMIM Gene-Disease Associations

genes associated with the cone-rod dystrophy 11 phenotype from the curated OMIM Gene-Disease Associations dataset.

cone-rod dystrophy 10 Gene Set

From OMIM Gene-Disease Associations

genes associated with the cone-rod dystrophy 10 phenotype from the curated OMIM Gene-Disease Associations dataset.

emery-dreifuss muscular dystrophy 4, autosomal dominant Gene Set

From OMIM Gene-Disease Associations

genes associated with the emery-dreifuss muscular dystrophy 4, autosomal dominant phenotype from the curated OMIM Gene-Disease Associations dataset.

cataract with late-onset corneal dystrophy Gene Set

From OMIM Gene-Disease Associations

genes associated with the cataract with late-onset corneal dystrophy phenotype from the curated OMIM Gene-Disease Associations dataset.

muscular dystrophy, limb-girdle, type 2c Gene Set

From OMIM Gene-Disease Associations

genes associated with the muscular dystrophy, limb-girdle, type 2c phenotype from the curated OMIM Gene-Disease Associations dataset.

corneal dystrophy, congenital stromal Gene Set

From OMIM Gene-Disease Associations

genes associated with the corneal dystrophy, congenital stromal phenotype from the curated OMIM Gene-Disease Associations dataset.

cone-rod dystrophy Gene Set

From OMIM Gene-Disease Associations

genes associated with the cone-rod dystrophy phenotype from the curated OMIM Gene-Disease Associations dataset.

corneal dystrophy, lattice type iiia Gene Set

From OMIM Gene-Disease Associations

genes associated with the corneal dystrophy, lattice type iiia phenotype from the curated OMIM Gene-Disease Associations dataset.

muscular dystrophy, congenital, due to partial lama2 deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the muscular dystrophy, congenital, due to partial lama2 deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

cone-rod dystrophy, x-linked, 1 Gene Set

From OMIM Gene-Disease Associations

genes associated with the cone-rod dystrophy, x-linked, 1 phenotype from the curated OMIM Gene-Disease Associations dataset.

corneal dystrophy, fuchs endothelial, 5 Gene Set

From OMIM Gene-Disease Associations

genes associated with the corneal dystrophy, fuchs endothelial, 5 phenotype from the curated OMIM Gene-Disease Associations dataset.

corneal dystrophy, fuchs endothelial, 4 Gene Set

From OMIM Gene-Disease Associations

genes associated with the corneal dystrophy, fuchs endothelial, 4 phenotype from the curated OMIM Gene-Disease Associations dataset.

corneal dystrophy, fuchs endothelial, 7 Gene Set

From OMIM Gene-Disease Associations

genes associated with the corneal dystrophy, fuchs endothelial, 7 phenotype from the curated OMIM Gene-Disease Associations dataset.

corneal dystrophy, fuchs endothelial, 6 Gene Set

From OMIM Gene-Disease Associations

genes associated with the corneal dystrophy, fuchs endothelial, 6 phenotype from the curated OMIM Gene-Disease Associations dataset.

corneal dystrophy, fuchs endothelial, 2 Gene Set

From OMIM Gene-Disease Associations

genes associated with the corneal dystrophy, fuchs endothelial, 2 phenotype from the curated OMIM Gene-Disease Associations dataset.

corneal dystrophy, gelatinous drop-like Gene Set

From OMIM Gene-Disease Associations

genes associated with the corneal dystrophy, gelatinous drop-like phenotype from the curated OMIM Gene-Disease Associations dataset.

cone-rod retinal dystrophy-2 Gene Set

From OMIM Gene-Disease Associations

genes associated with the cone-rod retinal dystrophy-2 phenotype from the curated OMIM Gene-Disease Associations dataset.

cone-rod retinal dystrophy-1 Gene Set

From OMIM Gene-Disease Associations

genes associated with the cone-rod retinal dystrophy-1 phenotype from the curated OMIM Gene-Disease Associations dataset.

macular dystrophy, retinal, 3 Gene Set

From OMIM Gene-Disease Associations

genes associated with the macular dystrophy, retinal, 3 phenotype from the curated OMIM Gene-Disease Associations dataset.

macular dystrophy, retinal, 2 Gene Set

From OMIM Gene-Disease Associations

genes associated with the macular dystrophy, retinal, 2 phenotype from the curated OMIM Gene-Disease Associations dataset.

miyoshi muscular dystrophy 2 Gene Set

From OMIM Gene-Disease Associations

genes associated with the miyoshi muscular dystrophy 2 phenotype from the curated OMIM Gene-Disease Associations dataset.

corneal dystrophy, posterior polymorphous, 1 Gene Set

From OMIM Gene-Disease Associations

genes associated with the corneal dystrophy, posterior polymorphous, 1 phenotype from the curated OMIM Gene-Disease Associations dataset.