Name

USH3B Gene

Usher syndrome 3B

USHBP1 Gene

Usher syndrome 1C binding protein 1

Enables PDZ domain binding activity. [provided by Alliance of Genome Resources, Mar 2025]

USH2A Gene

Usher syndrome 2A (autosomal recessive, mild)

This gene encodes a protein that contains laminin EGF motifs, a pentaxin domain, and many fibronectin type III motifs. The protein is found in the basement membrane, and may be important in development and homeostasis of the inner ear and retina. Mutations within this gene have been associated with Usher syndrome type IIa and retinitis pigmentosa. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2008]

USH1K Gene

Usher syndrome 1K (autosomal recessive)

USH1H Gene

Usher syndrome 1H (autosomal recessive)

USH1C Gene

Usher syndrome 1C (autosomal recessive, severe)

This gene encodes a scaffold protein that functions in the assembly of Usher protein complexes. The protein contains PDZ domains, a coiled-coil region with a bipartite nuclear localization signal and a PEST degradation sequence. Defects in this gene are the cause of Usher syndrome type 1C and non-syndromic sensorineural deafness autosomal recessive type 18. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2009]

USH1G Gene

Usher syndrome 1G (autosomal recessive)

This gene encodes a protein that contains three ankyrin domains, a class I PDZ-binding motif and a sterile alpha motif. The encoded protein interacts with harmonin, which is associated with Usher syndrome type 1C. This protein plays a role in the development and maintenance of the auditory and visual systems and functions in the cohesion of hair bundles formed by inner ear sensory cells. Mutations in this gene are associated with Usher syndrome type 1G (USH1G). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]

USH1E Gene

Usher syndrome 1E (autosomal recessive, severe)

Usher Syndromes Gene Set

From CTD Gene-Disease Associations

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

usher syndromes Gene Set

From GAD Gene-Disease Associations

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

Usher Syndromes Gene Set

From HuGE Navigator Gene-Phenotype Associations

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

Usher syndrome, type 1C Gene Set

From ClinVar Gene-Phenotype Associations

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

Usher syndrome, type 1F Gene Set

From ClinVar Gene-Phenotype Associations

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

Usher syndrome, type 1D Gene Set

From ClinVar Gene-Phenotype Associations

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

Usher syndrome, type 1J Gene Set

From ClinVar Gene-Phenotype Associations

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

Usher syndrome, type 2C Gene Set

From ClinVar Gene-Phenotype Associations

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

Usher syndrome, type 2D Gene Set

From ClinVar Gene-Phenotype Associations

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

Usher syndrome, type 2A Gene Set

From ClinVar Gene-Phenotype Associations

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

Usher syndrome, type 1 Gene Set

From ClinVar Gene-Phenotype Associations

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

Usher syndrome, type 1B Gene Set

From ClinVar Gene-Phenotype Associations

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

Usher syndrome, type 1G Gene Set

From ClinVar Gene-Phenotype Associations

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

Usher syndrome, type 3 Gene Set

From ClinVar Gene-Phenotype Associations

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

USHER SYNDROME, TYPE IJ Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease USHER SYNDROME, TYPE IJ from the curated CTD Gene-Disease Associations dataset.

Usher syndrome, type 1C Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Usher syndrome, type 1C from the curated CTD Gene-Disease Associations dataset.

Usher syndrome, type 1F Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Usher syndrome, type 1F from the curated CTD Gene-Disease Associations dataset.

Usher Syndrome, Type IG Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Usher Syndrome, Type IG from the curated CTD Gene-Disease Associations dataset.

USHER SYNDROME, TYPE IIIA Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease USHER SYNDROME, TYPE IIIA from the curated CTD Gene-Disease Associations dataset.

Usher syndrome, type 2A Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Usher syndrome, type 2A from the curated CTD Gene-Disease Associations dataset.

USHER SYNDROME, TYPE IID Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease USHER SYNDROME, TYPE IID from the curated CTD Gene-Disease Associations dataset.

Usher Syndrome, Type IH Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Usher Syndrome, Type IH from the curated CTD Gene-Disease Associations dataset.

Usher syndrome, type 1B Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Usher syndrome, type 1B from the curated CTD Gene-Disease Associations dataset.

Usher syndrome, type 1D Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Usher syndrome, type 1D from the curated CTD Gene-Disease Associations dataset.

Usher syndrome, type 1E Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Usher syndrome, type 1E from the curated CTD Gene-Disease Associations dataset.

usher syndrome Gene Set

From DISEASES Curated Gene-Disease Association Evidence Scores

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

usher syndrome Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores

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

retinitis pigmentosa; leber congenital amaurosis; usher syndrome type i Gene Set

From GAD Gene-Disease Associations

genes associated with the disease retinitis pigmentosa; leber congenital amaurosis; usher syndrome type i in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

retinitis pigmentosa; usher syndrome Gene Set

From GAD Gene-Disease Associations

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

usher syndrome Gene Set

From GAD Gene-Disease Associations

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

usher Gene Set

From GeneRIF Biological Term Annotations

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

Usher syndrome type-1C protein-binding protein 1, PDZ domain Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Usher syndrome type-1C protein-binding protein 1, PDZ domain protein domain from the InterPro Predicted Protein Domain Annotations dataset.

{retinal disease in usher syndrome type iia, modifier of} Gene Set

From OMIM Gene-Disease Associations

genes associated with the {retinal disease in usher syndrome type iia, modifier of} phenotype from the curated OMIM Gene-Disease Associations dataset.

usher syndrome, type 1f Gene Set

From OMIM Gene-Disease Associations

genes associated with the usher syndrome, type 1f phenotype from the curated OMIM Gene-Disease Associations dataset.

usher syndrome, type 1g Gene Set

From OMIM Gene-Disease Associations

genes associated with the usher syndrome, type 1g phenotype from the curated OMIM Gene-Disease Associations dataset.

usher syndrome, type 1d Gene Set

From OMIM Gene-Disease Associations

genes associated with the usher syndrome, type 1d phenotype from the curated OMIM Gene-Disease Associations dataset.

usher syndrome, type ij Gene Set

From OMIM Gene-Disease Associations

genes associated with the usher syndrome, type ij phenotype from the curated OMIM Gene-Disease Associations dataset.

usher syndrome, type ik Gene Set

From OMIM Gene-Disease Associations

genes associated with the usher syndrome, type ik phenotype from the curated OMIM Gene-Disease Associations dataset.

usher syndrome, type 1d/f digenic Gene Set

From OMIM Gene-Disease Associations

genes associated with the usher syndrome, type 1d/f digenic phenotype from the curated OMIM Gene-Disease Associations dataset.

usher syndrome, type 3a Gene Set

From OMIM Gene-Disease Associations

genes associated with the usher syndrome, type 3a phenotype from the curated OMIM Gene-Disease Associations dataset.

usher syndrome, type 1b Gene Set

From OMIM Gene-Disease Associations

genes associated with the usher syndrome, type 1b phenotype from the curated OMIM Gene-Disease Associations dataset.

usher syndrome, type 1c Gene Set

From OMIM Gene-Disease Associations

genes associated with the usher syndrome, type 1c phenotype from the curated OMIM Gene-Disease Associations dataset.

usher syndrome, type 1e Gene Set

From OMIM Gene-Disease Associations

genes associated with the usher syndrome, type 1e phenotype from the curated OMIM Gene-Disease Associations dataset.

usher syndrome, type 1h Gene Set

From OMIM Gene-Disease Associations

genes associated with the usher syndrome, type 1h phenotype from the curated OMIM Gene-Disease Associations dataset.

usher syndrome, type 2c, gpr98/pdzd7 digenic Gene Set

From OMIM Gene-Disease Associations

genes associated with the usher syndrome, type 2c, gpr98/pdzd7 digenic phenotype from the curated OMIM Gene-Disease Associations dataset.

usher syndrome type 3b Gene Set

From OMIM Gene-Disease Associations

genes associated with the usher syndrome type 3b phenotype from the curated OMIM Gene-Disease Associations dataset.

usher syndrome, type 2a Gene Set

From OMIM Gene-Disease Associations

genes associated with the usher syndrome, type 2a phenotype from the curated OMIM Gene-Disease Associations dataset.

usher syndrome, type iic, gpr98/pdzd7 digenic Gene Set

From OMIM Gene-Disease Associations

genes associated with the usher syndrome, type iic, gpr98/pdzd7 digenic phenotype from the curated OMIM Gene-Disease Associations dataset.

usher syndrome, type 2c Gene Set

From OMIM Gene-Disease Associations

genes associated with the usher syndrome, type 2c phenotype from the curated OMIM Gene-Disease Associations dataset.

usher syndrome, type 2d Gene Set

From OMIM Gene-Disease Associations

genes associated with the usher syndrome, type 2d phenotype from the curated OMIM Gene-Disease Associations dataset.

Usher Syndrome Gene Set

From DisGeNET Gene-Disease Associations

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

Usher syndrome Gene Set

From DISEASES Curated Gene-Disease Association Evidence Scores 2025

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

Usher syndrome type 2A Gene Set

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

genes co-occuring with the disease Usher syndrome type 2A in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Usher syndrome type 2 Gene Set

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

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

Usher syndrome Gene Set

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

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

Usher syndrome type 3B Gene Set

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

genes co-occuring with the disease Usher syndrome type 3B in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Usher syndrome type 3 Gene Set

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

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

Usher syndrome type 1 Gene Set

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

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

Usher syndrome type 1C Gene Set

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

genes co-occuring with the disease Usher syndrome type 1C in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Usher syndrome type 1G Gene Set

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

genes co-occuring with the disease Usher syndrome type 1G in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Usher syndrome type 1D Gene Set

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

genes co-occuring with the disease Usher syndrome type 1D in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Usher syndrome type 2D Gene Set

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

genes co-occuring with the disease Usher syndrome type 2D in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Usher syndrome type 1E Gene Set

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

genes co-occuring with the disease Usher syndrome type 1E in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Usher syndrome type 1F Gene Set

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

genes co-occuring with the disease Usher syndrome type 1F in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Usher syndrome type 3A Gene Set

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

genes co-occuring with the disease Usher syndrome type 3A in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Usher syndrome type 1J Gene Set

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

genes co-occuring with the disease Usher syndrome type 1J in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Usher syndrome type 2C Gene Set

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

genes co-occuring with the disease Usher syndrome type 2C in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Usher syndrome Gene Set

From ClinVar Gene-Phenotype Associations 2025

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

USHER SYNDR Gene Set

From ClinVar Gene-Phenotype Associations 2025

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

Hereditary Paraganglioma-Pheochromocytoma Syndromes Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Hereditary Paraganglioma-Pheochromocytoma Syndromes phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Trichothiodystrophy Syndromes Gene Set

From CTD Gene-Disease Associations

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

Neurotoxicity Syndromes Gene Set

From CTD Gene-Disease Associations

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

Sleep Apnea Syndromes Gene Set

From CTD Gene-Disease Associations

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

Myelodysplastic Syndromes Gene Set

From CTD Gene-Disease Associations

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

Malabsorption Syndromes Gene Set

From CTD Gene-Disease Associations

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

Dry Eye Syndromes Gene Set

From CTD Gene-Disease Associations

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

Orofaciodigital Syndromes Gene Set

From CTD Gene-Disease Associations

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

Cryopyrin-Associated Periodic Syndromes Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Cryopyrin-Associated Periodic Syndromes from the curated CTD Gene-Disease Associations dataset.

Myasthenic Syndromes, Congenital Gene Set

From CTD Gene-Disease Associations

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

Bone Marrow failure syndromes Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Bone Marrow failure syndromes from the curated CTD Gene-Disease Associations dataset.

Compartment Syndromes Gene Set

From CTD Gene-Disease Associations

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

Immunologic Deficiency Syndromes Gene Set

From CTD Gene-Disease Associations

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

non-st-elevation acute coronary syndromes Gene Set

From GAD Gene-Disease Associations

genes associated with the disease non-st-elevation acute coronary syndromes in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

leukemia, myeloid, acute; leukemia, myelomonocytic, chronic; myelodysplastic syndromes; preleukemia Gene Set

From GAD Gene-Disease Associations

genes associated with the disease leukemia, myeloid, acute; leukemia, myelomonocytic, chronic; myelodysplastic syndromes; preleukemia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

anemia, aplastic; aplastic anemia; myelodysplastic syndromes; preleukemia Gene Set

From GAD Gene-Disease Associations

genes associated with the disease anemia, aplastic; aplastic anemia; myelodysplastic syndromes; preleukemia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

hemochromatosis; myelodysplastic syndromes; preleukemia Gene Set

From GAD Gene-Disease Associations

genes associated with the disease hemochromatosis; myelodysplastic syndromes; preleukemia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

neoplastic syndromes, hereditary; pancreatic neoplasm; pancreatic neoplasms Gene Set

From GAD Gene-Disease Associations

genes associated with the disease neoplastic syndromes, hereditary; pancreatic neoplasm; pancreatic neoplasms in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

anemia, aplastic; aplastic anemia; leukemia, myeloid; myelodysplastic syndromes; myeloid leukemia; preleukemia Gene Set

From GAD Gene-Disease Associations

genes associated with the disease anemia, aplastic; aplastic anemia; leukemia, myeloid; myelodysplastic syndromes; myeloid leukemia; preleukemia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

leukemia, myeloid, acute; myelodysplastic syndromes; myeloproliferative disorders Gene Set

From GAD Gene-Disease Associations

genes associated with the disease leukemia, myeloid, acute; myelodysplastic syndromes; myeloproliferative disorders in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

gastrointestinal neoplasms; hht - hereditary hemorrhagic telangiectasia; intestinal polyposis; neoplastic syndromes, hereditary; telangiectasia, hereditary hemorrhagic Gene Set

From GAD Gene-Disease Associations

genes associated with the disease gastrointestinal neoplasms; hht - hereditary hemorrhagic telangiectasia; intestinal polyposis; neoplastic syndromes, hereditary; telangiectasia, hereditary hemorrhagic in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

blast crisis; leukemia, myeloid, acute; myelodysplastic syndromes Gene Set

From GAD Gene-Disease Associations

genes associated with the disease blast crisis; leukemia, myeloid, acute; myelodysplastic syndromes in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

brain neoplasms; kidney diseases; leukemia; neurotoxicity syndromes Gene Set

From GAD Gene-Disease Associations

genes associated with the disease brain neoplasms; kidney diseases; leukemia; neurotoxicity syndromes in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

coronary syndromes, acute Gene Set

From GAD Gene-Disease Associations

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

chromosome breakage; dna damage; myelodysplastic syndromes Gene Set

From GAD Gene-Disease Associations

genes associated with the disease chromosome breakage; dna damage; myelodysplastic syndromes in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

chronic lymphocytic leukemia; leukemia, lymphocytic, chronic, b-cell; leukemia, myelogenous, chronic, bcr-abl positive; leukemia, myeloid, acute; myelodysplastic syndromes; precursor cell lymphoblastic leukemia-lymphoma; preleukemia Gene Set

From GAD Gene-Disease Associations

genes associated with the disease chronic lymphocytic leukemia; leukemia, lymphocytic, chronic, b-cell; leukemia, myelogenous, chronic, bcr-abl positive; leukemia, myeloid, acute; myelodysplastic syndromes; precursor cell lymphoblastic leukemia-lymphoma; preleukemia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

multiple myeloma; myelodysplastic syndromes Gene Set

From GAD Gene-Disease Associations

genes associated with the disease multiple myeloma; myelodysplastic syndromes in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

familial mediterranean fever; leukemia, myelogenous, chronic, bcr-abl positive; leukemia, myeloid; leukemia, myeloid, acute; myelodysplastic syndromes; myeloid leukemia; polycythemia vera; preleukemia Gene Set

From GAD Gene-Disease Associations

genes associated with the disease familial mediterranean fever; leukemia, myelogenous, chronic, bcr-abl positive; leukemia, myeloid; leukemia, myeloid, acute; myelodysplastic syndromes; myeloid leukemia; polycythemia vera; preleukemia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

leukemia, myelomonocytic, chronic; myelodysplastic syndromes; preleukemia Gene Set

From GAD Gene-Disease Associations

genes associated with the disease leukemia, myelomonocytic, chronic; myelodysplastic syndromes; preleukemia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

leukemia, myeloid, acute; lymphoma, non-hodgkin; multiple myeloma; myelodysplastic syndromes Gene Set

From GAD Gene-Disease Associations

genes associated with the disease leukemia, myeloid, acute; lymphoma, non-hodgkin; multiple myeloma; myelodysplastic syndromes in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

fragile x syndrome; fragile x syndromes; movement disorders Gene Set

From GAD Gene-Disease Associations

genes associated with the disease fragile x syndrome; fragile x syndromes; movement disorders in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

fragile x syndrome; fragile x syndromes; mental retardation Gene Set

From GAD Gene-Disease Associations

genes associated with the disease fragile x syndrome; fragile x syndromes; mental retardation in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

breast neoplasms; carcinoma; melanoma; neoplastic syndromes, hereditary; ovarian neoplasms; pancreatic neoplasms; prostatic neoplasms Gene Set

From GAD Gene-Disease Associations

genes associated with the disease breast neoplasms; carcinoma; melanoma; neoplastic syndromes, hereditary; ovarian neoplasms; pancreatic neoplasms; prostatic neoplasms in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

anemia, refractory; myelodysplastic syndromes; preleukemia; refractory anaemia -retired- Gene Set

From GAD Gene-Disease Associations

genes associated with the disease anemia, refractory; myelodysplastic syndromes; preleukemia; refractory anaemia -retired- in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

leukemia, pre-b-cell; neurotoxicity syndromes; precursor b-cell lymphoblastic leukemia-lymphoma Gene Set

From GAD Gene-Disease Associations

genes associated with the disease leukemia, pre-b-cell; neurotoxicity syndromes; precursor b-cell lymphoblastic leukemia-lymphoma in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

chromosome aberrations; chromosome abnormality; leukemia, myeloid, acute; myelodysplastic syndromes; preleukemia Gene Set

From GAD Gene-Disease Associations

genes associated with the disease chromosome aberrations; chromosome abnormality; leukemia, myeloid, acute; myelodysplastic syndromes; preleukemia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

bronchiectasis; immunologic deficiency syndromes Gene Set

From GAD Gene-Disease Associations

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

dry eye syndromes; Gene Set

From GAD Gene-Disease Associations

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

myelodysplastic syndromes; preleukemia Gene Set

From GAD Gene-Disease Associations

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

leukemia, myeloid, acute; myelodysplastic syndromes; preleukemia Gene Set

From GAD Gene-Disease Associations

genes associated with the disease leukemia, myeloid, acute; myelodysplastic syndromes; preleukemia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

cryopyrin-associated periodic syndromes; familial mediterranean fever; mevalonate kinase deficiency Gene Set

From GAD Gene-Disease Associations

genes associated with the disease cryopyrin-associated periodic syndromes; familial mediterranean fever; mevalonate kinase deficiency in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

memory disorders; sleep apnea syndromes Gene Set

From GAD Gene-Disease Associations

genes associated with the disease memory disorders; sleep apnea syndromes in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

anemia, refractory; anemia, sideroblastic; myelodysplastic syndromes; thrombocytosis Gene Set

From GAD Gene-Disease Associations

genes associated with the disease anemia, refractory; anemia, sideroblastic; myelodysplastic syndromes; thrombocytosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

myelodysplastic syndromes Gene Set

From GAD Gene-Disease Associations

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

complex regional pain syndromes; dystonia; Gene Set

From GAD Gene-Disease Associations

genes associated with the disease complex regional pain syndromes; dystonia; in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

leukemia, myeloid, acute; myelodysplastic syndromes Gene Set

From GAD Gene-Disease Associations

genes associated with the disease leukemia, myeloid, acute; myelodysplastic syndromes in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

arthritis, rheumatoid; corneal diseases; dry eye syndromes Gene Set

From GAD Gene-Disease Associations

genes associated with the disease arthritis, rheumatoid; corneal diseases; dry eye syndromes in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

neurotoxicity syndromes; precursor cell lymphoblastic leukemia-lymphoma Gene Set

From GAD Gene-Disease Associations

genes associated with the disease neurotoxicity syndromes; precursor cell lymphoblastic leukemia-lymphoma in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

myelodysplastic syndromes; purpura, thrombocytopenic, idiopathic Gene Set

From GAD Gene-Disease Associations

genes associated with the disease myelodysplastic syndromes; purpura, thrombocytopenic, idiopathic in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

leukemia, myelomonocytic, chronic; myelodysplastic syndromes Gene Set

From GAD Gene-Disease Associations

genes associated with the disease leukemia, myelomonocytic, chronic; myelodysplastic syndromes in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

neurotoxicity syndromes; pancreatic neoplasm; pancreatic neoplasms; stomach neoplasms Gene Set

From GAD Gene-Disease Associations

genes associated with the disease neurotoxicity syndromes; pancreatic neoplasm; pancreatic neoplasms; stomach neoplasms in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

fragile x syndrome; fragile x syndromes Gene Set

From GAD Gene-Disease Associations

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

myelodysplastic syndromes; parkinson disease; preleukemia Gene Set

From GAD Gene-Disease Associations

genes associated with the disease myelodysplastic syndromes; parkinson disease; preleukemia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

prader-willi and angelman syndromes Gene Set

From GAD Gene-Disease Associations

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

sleep apnea syndromes Gene Set

From GAD Gene-Disease Associations

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

lymphoproliferative disorders; myelodysplastic syndromes Gene Set

From GAD Gene-Disease Associations

genes associated with the disease lymphoproliferative disorders; myelodysplastic syndromes in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

breast neoplasms; neoplastic syndromes, hereditary; ovarian neoplasms Gene Set

From GAD Gene-Disease Associations

genes associated with the disease breast neoplasms; neoplastic syndromes, hereditary; ovarian neoplasms in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

anemia, sideroblastic; hemochromatosis; myelodysplastic syndromes; preleukemia; sideroblastic anemia Gene Set

From GAD Gene-Disease Associations

genes associated with the disease anemia, sideroblastic; hemochromatosis; myelodysplastic syndromes; preleukemia; sideroblastic anemia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

chromosomal instability; immunologic deficiency syndromes; lymphoma, non-hodgkin; microsatellite instability Gene Set

From GAD Gene-Disease Associations

genes associated with the disease chromosomal instability; immunologic deficiency syndromes; lymphoma, non-hodgkin; microsatellite instability in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

epilepsy; neurotoxicity syndromes Gene Set

From GAD Gene-Disease Associations

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

ataxia; fragile x syndrome; fragile x syndromes Gene Set

From GAD Gene-Disease Associations

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

leukemia, myeloid, acute; myelodysplastic syndromes; precursor cell lymphoblastic leukemia-lymphoma Gene Set

From GAD Gene-Disease Associations

genes associated with the disease leukemia, myeloid, acute; myelodysplastic syndromes; precursor cell lymphoblastic leukemia-lymphoma in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

chromosome deletion; myelodysplastic syndromes Gene Set

From GAD Gene-Disease Associations

genes associated with the disease chromosome deletion; myelodysplastic syndromes in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

leukemia, myelogenous, chronic, bcr-abl positive; myelodysplastic syndromes; myeloproliferative disorders; polycythemia vera; precursor cell lymphoblastic leukemia-lymphoma; thrombocythemia, essential Gene Set

From GAD Gene-Disease Associations

genes associated with the disease leukemia, myelogenous, chronic, bcr-abl positive; myelodysplastic syndromes; myeloproliferative disorders; polycythemia vera; precursor cell lymphoblastic leukemia-lymphoma; thrombocythemia, essential in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

multiple myeloma; myelodysplastic syndromes; preleukemia Gene Set

From GAD Gene-Disease Associations

genes associated with the disease multiple myeloma; myelodysplastic syndromes; preleukemia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

chromosome aberrations; myelodysplastic syndromes Gene Set

From GAD Gene-Disease Associations

genes associated with the disease chromosome aberrations; myelodysplastic syndromes in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

bloom syndrome; leukemia, myeloid, acute; melanoma; myelodysplastic syndromes; preleukemia; skin neoplasms Gene Set

From GAD Gene-Disease Associations

genes associated with the disease bloom syndrome; leukemia, myeloid, acute; melanoma; myelodysplastic syndromes; preleukemia; skin neoplasms in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

myelodysplastic syndromes; myeloproliferative disorders; preleukemia Gene Set

From GAD Gene-Disease Associations

genes associated with the disease myelodysplastic syndromes; myeloproliferative disorders; preleukemia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

leukemia; multiple myeloma; myelodysplastic syndromes; preleukemia Gene Set

From GAD Gene-Disease Associations

genes associated with the disease leukemia; multiple myeloma; myelodysplastic syndromes; preleukemia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

paraneoplastic syndromes, nervous system; small cell carcinoma of lung; small cell lung carcinoma Gene Set

From GAD Gene-Disease Associations

genes associated with the disease paraneoplastic syndromes, nervous system; small cell carcinoma of lung; small cell lung carcinoma in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

immunologic deficiency syndromes; severe combined immunodeficiency Gene Set

From GAD Gene-Disease Associations

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

cardiovascular diseases; sleep apnea syndromes Gene Set

From GAD Gene-Disease Associations

genes associated with the disease cardiovascular diseases; sleep apnea syndromes in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

syndromes Gene Set

From GeneRIF Biological Term Annotations

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

Neurotoxicity Syndromes Gene Set

From HuGE Navigator Gene-Phenotype Associations

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

Sleep Apnea Syndromes Gene Set

From HuGE Navigator Gene-Phenotype Associations

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

Myelodysplastic Syndromes Gene Set

From HuGE Navigator Gene-Phenotype Associations

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

Paraneoplastic Syndromes, Nervous System Gene Set

From HuGE Navigator Gene-Phenotype Associations

genes associated with the Paraneoplastic Syndromes, Nervous System phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset.

Cryopyrin-associated Periodic Syndromes Gene Set

From HuGE Navigator Gene-Phenotype Associations

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

Complex Regional Pain Syndromes Gene Set

From HuGE Navigator Gene-Phenotype Associations

genes associated with the Complex Regional Pain Syndromes phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset.

Neoplastic Syndromes, Hereditary Gene Set

From HuGE Navigator Gene-Phenotype Associations

genes associated with the Neoplastic Syndromes, Hereditary phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset.

Immunologic Deficiency Syndromes Gene Set

From HuGE Navigator Gene-Phenotype Associations

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

McKusick-Kaufman/Bardet-Biedl syndromes putative chaperonin Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the McKusick-Kaufman/Bardet-Biedl syndromes putative chaperonin protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Dry Eye Syndromes Gene Set

From DisGeNET Gene-Disease Associations

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

Neurocutaneous Syndromes Gene Set

From DisGeNET Gene-Disease Associations

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

Epileptic Syndromes Gene Set

From DisGeNET Gene-Disease Associations

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

Complex Regional Pain Syndromes Gene Set

From DisGeNET Gene-Disease Associations

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

Congenital Myasthenic Syndromes Gene Set

From DisGeNET Gene-Disease Associations

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

Microdeletion Syndromes Gene Set

From DisGeNET Gene-Disease Associations

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

Hypothalamic Dysfunction Syndromes Gene Set

From DisGeNET Gene-Disease Associations

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

Bone Marrow Failure Syndromes Gene Set

From DisGeNET Gene-Disease Associations

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

Cryopyrin-Associated Periodic Syndromes Gene Set

From DisGeNET Gene-Disease Associations

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

Euthyroid Sick Syndromes Gene Set

From DisGeNET Gene-Disease Associations

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

Chromosome Instability Syndromes Gene Set

From DisGeNET Gene-Disease Associations

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

Other Specified Congenital Malformation Syndromes, Not Elsewhere Classified In Icd10Cm Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Other Specified Congenital Malformation Syndromes, Not Elsewhere Classified In Icd10Cm in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

De Novo Myelodysplastic Syndromes Gene Set

From DisGeNET Gene-Disease Associations

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

Myofascial Pain Syndromes Gene Set

From DisGeNET Gene-Disease Associations

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

Trichothiodystrophy Syndromes Gene Set

From DisGeNET Gene-Disease Associations

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

Secondary Myelodysplastic Syndromes Gene Set

From DisGeNET Gene-Disease Associations

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

Paraneoplastic Syndromes, Ocular Gene Set

From DisGeNET Gene-Disease Associations

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

Other Congenital Malformation Syndromes With Other Skeletal Changes Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Other Congenital Malformation Syndromes With Other Skeletal Changes in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Deaf-Blind Syndromes Gene Set

From DisGeNET Gene-Disease Associations

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

Synaptic congenital myasthenic syndromes Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Synaptic congenital myasthenic syndromes phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

PTEN hamartoma tumor syndromes Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the PTEN hamartoma tumor syndromes phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Human HOXA1 syndromes Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Human HOXA1 syndromes phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

SCN9A-related neuropathic pain syndromes Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the SCN9A-related neuropathic pain syndromes phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Mendelian syndromes Gene Set

From ClinVar Gene-Phenotype Associations 2025

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

Non-del(5q) myelodysplastic syndromes Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Non-del(5q) myelodysplastic syndromes phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Ticagrelor levels in individuals with acute coronary syndromes treated with ticagrelor Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Ticagrelor levels in individuals with acute coronary syndromes treated with ticagrelor phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

AR-C124910XX levels in individuals with acute coronary syndromes treated with ticagrelor Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the AR-C124910XX levels in individuals with acute coronary syndromes treated with ticagrelor phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.