Name

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

From ClinVar Gene-Phenotype Associations

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

Lymphoproliferative Syndrome, Ebv-Associated, Autosomal, 1 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Lymphoproliferative Syndrome, Ebv-Associated, Autosomal, 1 from the curated CTD Gene-Disease Associations dataset.

ebv Gene Set

From GeneRIF Biological Term Annotations

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

ebv-miR-BART3-3p Gene Set

From MiRTarBase microRNA Targets

target genes of the ebv-miR-BART3-3p microRNA in low- or high-throughput microRNA targeting studies from the MiRTarBase microRNA Targets dataset.

ebv-miR-BART16 Gene Set

From MiRTarBase microRNA Targets

target genes of the ebv-miR-BART16 microRNA in low- or high-throughput microRNA targeting studies from the MiRTarBase microRNA Targets dataset.

ebv-miR-BART6-5p Gene Set

From MiRTarBase microRNA Targets

target genes of the ebv-miR-BART6-5p microRNA in low- or high-throughput microRNA targeting studies from the MiRTarBase microRNA Targets dataset.

ebv-lcl cell Gene Set

From TISSUES Text-mining Tissue Protein Expression Evidence Scores

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

EBV LMP1 signaling(Mus musculus) Gene Set

From WikiPathways Pathways 2014

proteins participating in the EBV LMP1 signaling(Mus musculus) pathway from the WikiPathways Pathways 2014 dataset.

EBV LMP1 signaling(Homo sapiens) Gene Set

From WikiPathways Pathways 2014

proteins participating in the EBV LMP1 signaling(Homo sapiens) pathway from the WikiPathways Pathways 2014 dataset.

Chronic Active Ebv Infection Of T-And Nk-Cell Type, Systemic Form Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Chronic Active Ebv Infection Of T-And Nk-Cell Type, Systemic Form in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Ebv Viremia Gene Set

From DisGeNET Gene-Disease Associations

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

Ebv-Related Malignant Neoplasm Gene Set

From DisGeNET Gene-Disease Associations

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

Ebv-Related Hodgkin Lymphoma Gene Set

From DisGeNET Gene-Disease Associations

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

Ebv-Related Lymphoma Gene Set

From DisGeNET Gene-Disease Associations

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

Persistent Ebv Viremia Gene Set

From DisGeNET Gene-Phenotype Associations

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

Cells - EBV-transformed lymphocytes Gene Set

From GTEx Tissue Gene Expression Profiles 2023

genes with high or low expression in Cells - EBV-transformed lymphocytes relative to other tissues from the GTEx Tissue Gene Expression Profiles 2023 dataset.

EBV-PBL cell Gene Set

From TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025

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

EBV-B cell Gene Set

From TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025

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

EBV-LCL cell Gene Set

From TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025

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

EBV-positive nodal T- and NK-cell lymphoma Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the EBV-positive nodal T- and NK-cell lymphoma phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

EBV-Positive Inflammatory Follicular Dendritic Cell Sarcoma Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the EBV-Positive Inflammatory Follicular Dendritic Cell Sarcoma phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Autoimmune lymphoproliferative syndrome, type 2 Gene Set

From ClinVar Gene-Phenotype Associations

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

X-linked lymphoproliferative syndrome 1 Gene Set

From ClinVar Gene-Phenotype Associations

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

X-linked lymphoproliferative syndrome 2 Gene Set

From ClinVar Gene-Phenotype Associations

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

AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE V Gene Set

From ClinVar Gene-Phenotype Associations

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

Autoimmune lymphoproliferative syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

Autoimmune lymphoproliferative syndrome, type 1a Gene Set

From ClinVar Gene-Phenotype Associations

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

Autoimmune Lymphoproliferative Syndrome Gene Set

From CTD Gene-Disease Associations

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

Lymphoproliferative Syndrome, X-Linked, 2 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Lymphoproliferative Syndrome, X-Linked, 2 from the curated CTD Gene-Disease Associations dataset.

Autoimmune Lymphoproliferative Syndrome, Type IIA Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Autoimmune Lymphoproliferative Syndrome, Type IIA from the curated CTD Gene-Disease Associations dataset.

autoimmune lymphoproliferative syndrome Gene Set

From DISEASES Curated Gene-Disease Association Evidence Scores

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

autoimmune lymphoproliferative syndrome Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores

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

autoimmune diseases; lymphoma; lymphoproliferative disorders; syndrome Gene Set

From GAD Gene-Disease Associations

genes associated with the disease autoimmune diseases; lymphoma; lymphoproliferative disorders; syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

autoimmune lymphoproliferative syndrome; lymphoma Gene Set

From GAD Gene-Disease Associations

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

Autoimmune Lymphoproliferative Syndrome Gene Set

From HuGE Navigator Gene-Phenotype Associations

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

autoimmune lymphoproliferative syndrome, type ib Gene Set

From OMIM Gene-Disease Associations

genes associated with the autoimmune lymphoproliferative syndrome, type ib phenotype from the curated OMIM Gene-Disease Associations dataset.

autoimmune lymphoproliferative syndrome, type ia Gene Set

From OMIM Gene-Disease Associations

genes associated with the autoimmune lymphoproliferative syndrome, type ia phenotype from the curated OMIM Gene-Disease Associations dataset.

autoimmune lymphoproliferative syndrome, type ii Gene Set

From OMIM Gene-Disease Associations

genes associated with the autoimmune lymphoproliferative syndrome, type ii phenotype from the curated OMIM Gene-Disease Associations dataset.

{autoimmune lymphoproliferative syndrome} Gene Set

From OMIM Gene-Disease Associations

genes associated with the {autoimmune lymphoproliferative syndrome} phenotype from the curated OMIM Gene-Disease Associations dataset.

autoimmune lymphoproliferative syndrome, type iii Gene Set

From OMIM Gene-Disease Associations

genes associated with the autoimmune lymphoproliferative syndrome, type iii phenotype from the curated OMIM Gene-Disease Associations dataset.

lymphoproliferative syndrome 2 Gene Set

From OMIM Gene-Disease Associations

genes associated with the lymphoproliferative syndrome 2 phenotype from the curated OMIM Gene-Disease Associations dataset.

?autoimmune lymphoproliferative syndrome, type iib Gene Set

From OMIM Gene-Disease Associations

genes associated with the ?autoimmune lymphoproliferative syndrome, type iib phenotype from the curated OMIM Gene-Disease Associations dataset.

autoimmune lymphoproliferative syndrome, type v Gene Set

From OMIM Gene-Disease Associations

genes associated with the autoimmune lymphoproliferative syndrome, type v phenotype from the curated OMIM Gene-Disease Associations dataset.

lymphoproliferative syndrome, x-linked, 1 Gene Set

From OMIM Gene-Disease Associations

genes associated with the lymphoproliferative syndrome, x-linked, 1 phenotype from the curated OMIM Gene-Disease Associations dataset.

lymphoproliferative syndrome, x-linked, 2 Gene Set

From OMIM Gene-Disease Associations

genes associated with the lymphoproliferative syndrome, x-linked, 2 phenotype from the curated OMIM Gene-Disease Associations dataset.

autoimmune lymphoproliferative syndrome type iv Gene Set

From OMIM Gene-Disease Associations

genes associated with the autoimmune lymphoproliferative syndrome type iv phenotype from the curated OMIM Gene-Disease Associations dataset.

lymphoproliferative syndrome 1 Gene Set

From OMIM Gene-Disease Associations

genes associated with the lymphoproliferative syndrome 1 phenotype from the curated OMIM Gene-Disease Associations dataset.

Autoimmune Lymphoproliferative Syndrome Gene Set

From DisGeNET Gene-Disease Associations

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

Lymphoproliferative Syndrome Gene Set

From DisGeNET Gene-Disease Associations

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

Dianzani Autoimmune Lymphoproliferative Syndrome Gene Set

From DisGeNET Gene-Disease Associations

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

Autoimmune Lymphoproliferative Syndrome, Type Iii Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Autoimmune Lymphoproliferative Syndrome, Type Iii in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Lymphoproliferative syndrome Gene Set

From DISEASES Curated Gene-Disease Association Evidence Scores 2025

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

Autoimmune lymphoproliferative syndrome Gene Set

From DISEASES Curated Gene-Disease Association Evidence Scores 2025

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

Lymphoproliferative syndrome Gene Set

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

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

Autoimmune lymphoproliferative syndrome Gene Set

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

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

Autoimmune lymphoproliferative syndrome type 4 Gene Set

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

genes co-occuring with the disease Autoimmune lymphoproliferative syndrome type 4 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

X-linked lymphoproliferative syndrome 1 Gene Set

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

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

X-linked lymphoproliferative syndrome 2 Gene Set

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

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

Lymphoproliferative syndrome 2 Gene Set

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

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

Autoimmune lymphoproliferative syndrome type 2B Gene Set

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

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

Lymphoproliferative syndrome 1 Gene Set

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

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

Autoimmune lymphoproliferative syndrome type 3 Gene Set

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

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

Autoimmune lymphoproliferative syndrome type 2A Gene Set

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

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

Autoimmune lymphoproliferative syndrome Gene Set

From ClinVar Gene-Phenotype Associations 2025

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

X-linked lymphoproliferative syndrome Gene Set

From ClinVar Gene-Phenotype Associations 2025

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

Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Lymphoproliferative syndrome Gene Set

From ClinVar Gene-Phenotype Associations 2025

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

Lymphoproliferative Disorders Gene Set

From CTD Gene-Disease Associations

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

burkitt lymphoma; hodgkin disease; lymphoma, non-hodgkin; lymphoma, non-hodgkin's; lymphoproliferative disorders Gene Set

From GAD Gene-Disease Associations

genes associated with the disease burkitt lymphoma; hodgkin disease; lymphoma, non-hodgkin; lymphoma, non-hodgkin's; lymphoproliferative disorders in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

epstein-barr virus infections; lymphoproliferative disorders Gene Set

From GAD Gene-Disease Associations

genes associated with the disease epstein-barr virus infections; lymphoproliferative disorders in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

lymphoproliferative disorders; blood transfusion complications Gene Set

From GAD Gene-Disease Associations

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

leukemia, lymphocytic, chronic, b-cell; lymphoproliferative disorders Gene Set

From GAD Gene-Disease Associations

genes associated with the disease leukemia, lymphocytic, chronic, b-cell; lymphoproliferative disorders in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

x-linked lymphoproliferative disease Gene Set

From GAD Gene-Disease Associations

genes associated with the disease x-linked lymphoproliferative disease 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.

common variable immunodeficiency; lymphoproliferative disorders Gene Set

From GAD Gene-Disease Associations

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

autoimmune diseases; lymphoproliferative disorders Gene Set

From GAD Gene-Disease Associations

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

lymphoproliferative disorders; thrombosis Gene Set

From GAD Gene-Disease Associations

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

lymphocytosis; lymphoproliferative disorders Gene Set

From GAD Gene-Disease Associations

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

myocardial infarct; lymphoproliferative disorders; restenosis Gene Set

From GAD Gene-Disease Associations

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

lymphoproliferative disorders Gene Set

From GAD Gene-Disease Associations

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

lymphoproliferative disorders; multiple myeloma Gene Set

From GAD Gene-Disease Associations

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

lymphoproliferative Gene Set

From GeneRIF Biological Term Annotations

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

lymphoproliferative disorder Gene Set

From HPO Gene-Disease Associations

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

Lymphoproliferative Disorders Gene Set

From HuGE Navigator Gene-Phenotype Associations

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

Lymphoproliferative Disorder Of The Skin Gene Set

From DisGeNET Gene-Disease Associations

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

Post-Transplant Lymphoproliferative Disorder Gene Set

From DisGeNET Gene-Disease Associations

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

Chronic Lymphoproliferative Disorder Of Nk-Cells Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Chronic Lymphoproliferative Disorder Of Nk-Cells in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

X-Linked Lymphoproliferative Disorder Gene Set

From DisGeNET Gene-Disease Associations

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

Atypical Lymphoproliferative Disorder Gene Set

From DisGeNET Gene-Disease Associations

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

Post-Transplant Lymphoproliferative Disorder, Polymorphic Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Post-Transplant Lymphoproliferative Disorder, Polymorphic in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Monomorphic Post-Transplant Lymphoproliferative Disorder Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Monomorphic Post-Transplant Lymphoproliferative Disorder in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Chronic Lymphoproliferative Disease Nos Gene Set

From DisGeNET Gene-Disease Associations

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

Lymphoproliferative Disorder Caused By Methotrexate Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Lymphoproliferative Disorder Caused By Methotrexate in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Benign Lymphoproliferative Disorder Gene Set

From DisGeNET Gene-Disease Associations

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

X-linked lymphoproliferative disease due to SH2D1A deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the X-linked lymphoproliferative disease due to SH2D1A deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDR Gene Set

From ClinVar Gene-Phenotype Associations 2025

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

X-linked lymphoproliferative disease due to XIAP deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the X-linked lymphoproliferative disease due to XIAP deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Lymphoproliferative disorder Gene Set

From ClinVar Gene-Phenotype Associations 2025

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

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

From GAD Gene-Disease Associations

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

DEAFNESS, AUTOSOMAL DOMINANT 22;DFNA22 DEAFNESS, AUTOSOMAL DOMINANT 22, WITH HYPERTROPHIC CARDIOMYOPATHY, Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease DEAFNESS, AUTOSOMAL DOMINANT 22;DFNA22 DEAFNESS, AUTOSOMAL DOMINANT 22, WITH HYPERTROPHIC CARDIOMYOPATHY, from the curated CTD Gene-Disease Associations 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.

Alport syndrome, autosomal recessive Gene Set

From ClinVar Gene-Phenotype Associations

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

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

From ClinVar Gene-Phenotype Associations

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

Sick sinus syndrome 2, autosomal dominant Gene Set

From ClinVar Gene-Phenotype Associations

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

Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive Gene Set

From ClinVar Gene-Phenotype Associations

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

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

From ClinVar Gene-Phenotype Associations

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

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

From ClinVar Gene-Phenotype Associations

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

Segawa syndrome, autosomal recessive Gene Set

From ClinVar Gene-Phenotype Associations

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

Klippel-Feil syndrome 2, autosomal recessive Gene Set

From ClinVar Gene-Phenotype Associations

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

Autosomal recessive hypohidrotic ectodermal dysplasia syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

Sick sinus syndrome 1, autosomal recessive Gene Set

From ClinVar Gene-Phenotype Associations

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

Autosomal recessive Dejerine-Sottas syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

Glut1 deficiency syndrome 1, autosomal recessive Gene Set

From ClinVar Gene-Phenotype Associations

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

Autoimmune polyglandular syndrome type 1, autosomal dominant Gene Set

From ClinVar Gene-Phenotype Associations

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

Klippel-Feil syndrome 1, autosomal dominant Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Klippel-Feil syndrome 1, autosomal dominant phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Hypocalcemia, autosomal dominant 1, with bartter syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Hypocalcemia, autosomal dominant 1, with bartter syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Dejerine-Sottas syndrome, autosomal dominant Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Dejerine-Sottas syndrome, autosomal dominant phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Wolfram-like syndrome, autosomal dominant Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Wolfram-like syndrome, autosomal dominant phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Robinow syndrome, autosomal recessive Gene Set

From ClinVar Gene-Phenotype Associations

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

Sick Sinus Syndrome 2, Autosomal Dominant Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Sick Sinus Syndrome 2, Autosomal Dominant from the curated CTD Gene-Disease Associations dataset.

Sick Sinus Syndrome 1, Autosomal Recessive Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Sick Sinus Syndrome 1, Autosomal Recessive from the curated CTD Gene-Disease Associations dataset.

Robinow syndrome, autosomal recessive Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Robinow syndrome, autosomal recessive from the curated CTD Gene-Disease Associations dataset.

KLIPPEL-FEIL SYNDROME 3, AUTOSOMAL DOMINANT Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease KLIPPEL-FEIL SYNDROME 3, AUTOSOMAL DOMINANT from the curated CTD Gene-Disease Associations dataset.

Ehlers-Danlos Syndrome, Type VII, Autosomal Dominant Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Ehlers-Danlos Syndrome, Type VII, Autosomal Dominant from the curated CTD Gene-Disease Associations dataset.

Radiation Sensitivity Chromosome Instability Syndrome, Autosomal Dominant Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Radiation Sensitivity Chromosome Instability Syndrome, Autosomal Dominant from the curated CTD Gene-Disease Associations dataset.

BERNARD-SOULIER SYNDROME, TYPE A2, AUTOSOMAL DOMINANT Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease BERNARD-SOULIER SYNDROME, TYPE A2, AUTOSOMAL DOMINANT from the curated CTD Gene-Disease Associations dataset.

Hyper-Ige Recurrent Infection Syndrome, Autosomal Dominant Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Hyper-Ige Recurrent Infection Syndrome, Autosomal Dominant from the curated CTD Gene-Disease Associations dataset.

Ehlers-Danlos Syndrome, Type VII, Autosomal Recessive Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Ehlers-Danlos Syndrome, Type VII, Autosomal Recessive from the curated CTD Gene-Disease Associations dataset.

Segawa syndrome, autosomal recessive Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Segawa syndrome, autosomal recessive from the curated CTD Gene-Disease Associations dataset.

autosomal dominant contiguous gene syndrome Gene Set

From HPO Gene-Disease Associations

genes associated with the autosomal dominant contiguous gene syndrome phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

ehlers-danlos syndrome, autosomal recessive, due to tenascin x deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the ehlers-danlos syndrome, autosomal recessive, due to tenascin x deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

ehlers-danlos syndrome, autosomal dominant, hypermobility type Gene Set

From OMIM Gene-Disease Associations

genes associated with the ehlers-danlos syndrome, autosomal dominant, hypermobility type phenotype from the curated OMIM Gene-Disease Associations dataset.

alport syndrome, autosomal recessive Gene Set

From OMIM Gene-Disease Associations

genes associated with the alport syndrome, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.

robinow syndrome, autosomal dominant Gene Set

From OMIM Gene-Disease Associations

genes associated with the robinow syndrome, autosomal dominant phenotype from the curated OMIM Gene-Disease Associations dataset.

wolfram-like syndrome, autosomal dominant Gene Set

From OMIM Gene-Disease Associations

genes associated with the wolfram-like syndrome, autosomal dominant phenotype from the curated OMIM Gene-Disease Associations dataset.

klippel-feil syndrome 1, autosomal dominant Gene Set

From OMIM Gene-Disease Associations

genes associated with the klippel-feil syndrome 1, autosomal dominant phenotype from the curated OMIM Gene-Disease Associations dataset.

hyper-ige recurrent infection syndrome, autosomal recessive Gene Set

From OMIM Gene-Disease Associations

genes associated with the hyper-ige recurrent infection syndrome, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.

radiation sensitivity/chromosome instability syndrome, autosomal dominant Gene Set

From OMIM Gene-Disease Associations

genes associated with the radiation sensitivity/chromosome instability syndrome, autosomal dominant phenotype from the curated OMIM Gene-Disease Associations dataset.

klippel-feil syndrome 3, autosomal dominant Gene Set

From OMIM Gene-Disease Associations

genes associated with the klippel-feil syndrome 3, autosomal dominant phenotype from the curated OMIM Gene-Disease Associations dataset.

alport syndrome, autosomal dominant Gene Set

From OMIM Gene-Disease Associations

genes associated with the alport syndrome, autosomal dominant phenotype from the curated OMIM Gene-Disease Associations dataset.

hypocalcemia, autosomal dominant, with bartter syndrome Gene Set

From OMIM Gene-Disease Associations

genes associated with the hypocalcemia, autosomal dominant, with bartter syndrome phenotype from the curated OMIM Gene-Disease Associations dataset.

robinow syndrome, autosomal recessive Gene Set

From OMIM Gene-Disease Associations

genes associated with the robinow syndrome, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.

macrocephaly/megalencephaly syndrome, autosomal recessive Gene Set

From OMIM Gene-Disease Associations

genes associated with the macrocephaly/megalencephaly syndrome, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.

Autosomal Dominant Compelling Helio Ophthalmic Outburst Syndrome Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Autosomal Dominant Compelling Helio Ophthalmic Outburst Syndrome in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Autosomal Recessive Hyperimmunoglobulin M Syndrome Gene Set

From DisGeNET Gene-Disease Associations

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

Antley-Bixler Syndrome, Autosomal Dominant Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Antley-Bixler Syndrome, Autosomal Dominant in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Hypocalcemia, Autosomal Dominant, With Bartter Syndrome Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Hypocalcemia, Autosomal Dominant, With Bartter Syndrome in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Alport Syndrome, Autosomal Dominant Gene Set

From DisGeNET Gene-Disease Associations

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

Alport Syndrome, Autosomal Recessive Gene Set

From DisGeNET Gene-Disease Associations

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

Robinow Syndrome, Autosomal Dominant Gene Set

From DisGeNET Gene-Disease Associations

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

Autosomal Dominant Hypohidrotic Ectodermal Dysplasia Syndrome (Disorder) Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Autosomal Dominant Hypohidrotic Ectodermal Dysplasia Syndrome (Disorder) in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Autosomal Recessive Facio-Digito-Genital Syndrome Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Autosomal Recessive Facio-Digito-Genital Syndrome in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Sick Sinus Syndrome 2, Autosomal Dominant Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Sick Sinus Syndrome 2, Autosomal Dominant in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Dejerine-Sottas Syndrome, Autosomal Dominant Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Dejerine-Sottas Syndrome, Autosomal Dominant in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Multiple Pterygium Syndrome, Autosomal Dominant Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Multiple Pterygium Syndrome, Autosomal Dominant in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Robinow Syndrome, Autosomal Recessive Gene Set

From DisGeNET Gene-Disease Associations

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

Autosomal Dominant Optic Atrophy Plus Syndrome Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Autosomal Dominant Optic Atrophy Plus Syndrome in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Autosomal Dominant Contiguous Gene Syndrome Gene Set

From DisGeNET Gene-Disease Associations

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

Hyper-Ige Recurrent Infection Syndrome, Autosomal Dominant Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Hyper-Ige Recurrent Infection Syndrome, Autosomal Dominant in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form, With Methylmalonic Aciduria, Autosomal Recessive Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form, With Methylmalonic Aciduria, Autosomal Recessive in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Tetraamelia Syndrome, Autosomal Recessive Gene Set

From DisGeNET Gene-Disease Associations

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

Spondyloocular Syndrome, Autosomal Recessive Gene Set

From DisGeNET Gene-Disease Associations

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

Autosomal recessive Robinow syndrome Gene Set

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

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

Autosomal dominant Alport syndrome Gene Set

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

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

Autosomal recessive Alport syndrome Gene Set

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

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

Autosomal dominant Wolfram syndrome Gene Set

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

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

Autosomal dominant Robinow syndrome 1 Gene Set

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

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

Autosomal dominant Robinow syndrome 3 Gene Set

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

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

Autosomal dominant keratitis-ichthyosis-deafness syndrome Gene Set

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

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

Autosomal dominant Robinow syndrome 2 Gene Set

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

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

Autosomal dominant popliteal pterygium syndrome Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Autosomal dominant popliteal pterygium syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Autosomal recessive Dejerine-Sottas syndrome Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Autosomal recessive Dejerine-Sottas syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Autosomal recessive Kenny-Caffey syndrome Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Autosomal recessive Kenny-Caffey syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Autosomal recessive hypohidrotic ectodermal dysplasia syndrome Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Autosomal recessive hypohidrotic ectodermal dysplasia syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Autosomal recessive Robinow syndrome Gene Set

From ClinVar Gene-Phenotype Associations 2025

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

Autosomal dominant keratitis-ichthyosis-hearing loss syndrome Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Autosomal dominant keratitis-ichthyosis-hearing loss syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Autosomal recessive Alport syndrome Gene Set

From ClinVar Gene-Phenotype Associations 2025

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

Autosomal dominant Alport syndrome Gene Set

From ClinVar Gene-Phenotype Associations 2025

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

Autosomal recessive multiple pterygium syndrome Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Autosomal recessive multiple pterygium syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Autosomal dominant Kenny-Caffey syndrome Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Autosomal dominant Kenny-Caffey syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Autosomal dominant Robinow syndrome Gene Set

From ClinVar Gene-Phenotype Associations 2025

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

Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Autosomal recessive chorioretinopathy-microcephaly syndrome Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Autosomal recessive chorioretinopathy-microcephaly syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Autosomal dominant deafness - onychodystrophy syndrome Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Autosomal dominant deafness - onychodystrophy syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Autosomal recessive cerebellar ataxia-saccadic intrusion syndrome Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Autosomal recessive cerebellar ataxia-saccadic intrusion syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Autosomal dominant Opitz G/BBB syndrome Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Autosomal dominant Opitz G/BBB syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Autosomal recessive keratitis-ichthyosis-deafness syndrome Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Autosomal recessive keratitis-ichthyosis-deafness syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Lynch syndrome:Turcot syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

Hereditary cancer-predisposing syndrome:Lynch syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

Zunich neuroectodermal syndrome:Zunich neuroectodermal syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

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

From ClinVar Gene-Phenotype Associations

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

Noonan syndrome and Noonan-related syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

Lynch syndrome:Hereditary cancer-predisposing syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

Lynch syndrome:Lynch syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

Marfan's syndrome:Marfan's syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

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

From ClinVar Gene-Phenotype Associations

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

IFAP syndrome with or without BRESHECK syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

Lynch syndrome I:Lynch syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

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

From ClinVar Gene-Phenotype Associations

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

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

From CTD Gene-Disease Associations

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

Digeorge Syndrome/Velocardiofacial Syndrome Complex 2 Gene Set

From CTD Gene-Disease Associations

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

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

From GAD Gene-Disease Associations

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

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

From GAD Gene-Disease Associations

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

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

From GAD Gene-Disease Associations

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

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

From GAD Gene-Disease Associations

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

hyperhomocysteinemia; polycystic ovarian syndrome; polycystic ovary syndrome Gene Set

From GAD Gene-Disease Associations

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

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

From GAD Gene-Disease Associations

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

cornelia de lange syndrome; de lange syndrome Gene Set

From GAD Gene-Disease Associations

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

fatigue syndrome, chronic; fatigue syndrome; postviral Gene Set

From GAD Gene-Disease Associations

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

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

From GAD Gene-Disease Associations

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

abnormalities, multiple; aortic aneurysm, thoracic; marfan syndrome; syndrome Gene Set

From GAD Gene-Disease Associations

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

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

From GAD Gene-Disease Associations

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

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

From GAD Gene-Disease Associations

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

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

From GAD Gene-Disease Associations

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

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

From GAD Gene-Disease Associations

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

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

From GAD Gene-Disease Associations

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

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

From GAD Gene-Disease Associations

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

restless legs syndrome; tourette syndrome Gene Set

From GAD Gene-Disease Associations

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

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

From GAD Gene-Disease Associations

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

polycystic ovarian syndrome; polycystic ovary syndrome Gene Set

From GAD Gene-Disease Associations

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

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

From GAD Gene-Disease Associations

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

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

From GAD Gene-Disease Associations

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

behcet syndrome; uveomeningoencephalitic syndrome Gene Set

From GAD Gene-Disease Associations

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

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

From GAD Gene-Disease Associations

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

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

From GAD Gene-Disease Associations

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

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

From GAD Gene-Disease Associations

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

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

From GAD Gene-Disease Associations

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

melas syndrome; merrf syndrome Gene Set

From GAD Gene-Disease Associations

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

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

From GAD Gene-Disease Associations

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

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

From GAD Gene-Disease Associations

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

infertility; polycystic ovarian syndrome; polycystic ovary syndrome Gene Set

From GAD Gene-Disease Associations

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

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

From GAD Gene-Disease Associations

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

angelman syndrome; rett syndrome; seizures Gene Set

From GAD Gene-Disease Associations

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

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

From GAD Gene-Disease Associations

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

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

From GAD Gene-Disease Associations

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

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

From GAD Gene-Disease Associations

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

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

From GAD Gene-Disease Associations

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

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

From GAD Gene-Disease Associations

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

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

From GAD Gene-Disease Associations

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

abnormalities, multiple; heart defects, congenital; leopard syndrome; noonan syndrome; skin abnormalities Gene Set

From GAD Gene-Disease Associations

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

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

From GAD Gene-Disease Associations

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

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

From GAD Gene-Disease Associations

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

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

From GAD Gene-Disease Associations

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

metabolic syndrome ; metabolic syndrome Gene Set

From GAD Gene-Disease Associations

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

obesity; polycystic ovarian syndrome; polycystic ovary syndrome Gene Set

From GAD Gene-Disease Associations

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

digeorge syndrome; pharyngeal pouch; syndrome Gene Set

From GAD Gene-Disease Associations

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

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

From GAD Gene-Disease Associations

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

haemolytic-uraemic syndrome; hemolytic-uremic syndrome Gene Set

From GAD Gene-Disease Associations

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

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

From GAD Gene-Disease Associations

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

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

From GAD Gene-Disease Associations

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

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

From GAD Gene-Disease Associations

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

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

From GAD Gene-Disease Associations

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

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

From GAD Gene-Disease Associations

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

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

From GAD Gene-Disease Associations

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

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

From GAD Gene-Disease Associations

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

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

From GAD Gene-Disease Associations

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

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

From GAD Gene-Disease Associations

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

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

From GAD Gene-Disease Associations

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

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

From GAD Gene-Disease Associations

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

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

From GAD Gene-Disease Associations

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

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

From GAD Gene-Disease Associations

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

down syndrome; ehlers-danlos syndrome Gene Set

From GAD Gene-Disease Associations

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

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

From GAD Gene-Disease Associations

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

polycystic ovarian syndrome; polycystic ovary syndrome; thrombophilia Gene Set

From GAD Gene-Disease Associations

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

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

From GAD Gene-Disease Associations

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

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

From GAD Gene-Disease Associations

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

heart-hand syndrome, holt-oram syndrome Gene Set

From GAD Gene-Disease Associations

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

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

From GAD Gene-Disease Associations

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

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

From GAD Gene-Disease Associations

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

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

From GAD Gene-Disease Associations

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

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

From GAD Gene-Disease Associations

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

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

From GAD Gene-Disease Associations

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

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

From GAD Gene-Disease Associations

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

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

From GAD Gene-Disease Associations

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

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

From GAD Gene-Disease Associations

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

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

From OMIM Gene-Disease Associations

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

digeorge syndrome/velocardiofacial syndrome complex-2 Gene Set

From OMIM Gene-Disease Associations

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

ifap syndrome with or without bresheck syndrome Gene Set

From OMIM Gene-Disease Associations

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

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

From DisGeNET Gene-Disease Associations

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

Crouzon syndrome-acanthosis nigricans syndrome Gene Set

From DISEASES Curated Gene-Disease Association Evidence Scores 2025

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

Crouzon syndrome-acanthosis nigricans syndrome Gene Set

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

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

Noonan syndrome and Noonan-related syndrome Gene Set

From ClinVar Gene-Phenotype Associations 2025

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

Crouzon syndrome-acanthosis nigricans syndrome Gene Set

From ClinVar Gene-Phenotype Associations 2025

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

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

From ClinVar Gene-Phenotype Associations 2025

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

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

From ClinVar Gene-Phenotype Associations 2025

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

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

From GWAS Catalog SNP-Phenotype Associations 2025

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

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

From GWAS Catalog SNP-Phenotype Associations 2025

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

Short stature, idiopathic, autosomal Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Short stature, idiopathic, autosomal phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Myopia 21, autosomal dominant Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Myopia 21, autosomal dominant phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Myopia 24, autosomal dominant Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Myopia 24, autosomal dominant phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Methionine adenosyltransferase deficiency, autosomal recessive Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Methionine adenosyltransferase deficiency, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Congenital myotonia, autosomal dominant form Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Congenital myotonia, autosomal dominant form phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Deafness, autosomal dominant 4 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Deafness, autosomal dominant 4 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Deafness, autosomal dominant 5 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Deafness, autosomal dominant 5 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Giant axonal neuropathy, autosomal dominant Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Giant axonal neuropathy, autosomal dominant phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Mandibulofacial dysostosis, Treacher Collins type, autosomal recessive Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Mandibulofacial dysostosis, Treacher Collins type, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype 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.

Primary autosomal recessive microcephaly 8 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Primary autosomal recessive microcephaly 8 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Primary autosomal recessive microcephaly 2 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Primary autosomal recessive microcephaly 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Primary autosomal recessive microcephaly 3 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Primary autosomal recessive microcephaly 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Primary autosomal recessive microcephaly 1 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Primary autosomal recessive microcephaly 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Primary autosomal recessive microcephaly 6 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Primary autosomal recessive microcephaly 6 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Microcephaly 12, primary, autosomal recessive Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Microcephaly 12, primary, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Agammaglobulinemia 2, autosomal recessive Gene Set

From ClinVar Gene-Phenotype Associations

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

Neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Deafness, autosomal recessive 101 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Deafness, autosomal recessive 101 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Deafness, autosomal recessive 103 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Deafness, autosomal recessive 103 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Autosomal recessive hypophosphatemic vitamin D refractory rickets Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Autosomal recessive hypophosphatemic vitamin D refractory rickets phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Thrombophilia due to protein S deficiency, autosomal recessive Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Thrombophilia due to protein S deficiency, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Autosomal recessive cutis laxa type 1B Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Autosomal recessive cutis laxa type 1B phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Auditory neuropathy, autosomal recessive, 1 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Auditory neuropathy, autosomal recessive, 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Hypercholesterolemia, autosomal recessive Gene Set

From ClinVar Gene-Phenotype Associations

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

Woolly hair, autosomal recessive 2, with or without hypotrichosis Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Woolly hair, autosomal recessive 2, with or without hypotrichosis phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Exfoliative ichthyosis, autosomal recessive, ichthyosis bullosa of siemens-like Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Exfoliative ichthyosis, autosomal recessive, ichthyosis bullosa of siemens-like phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Cataract, autosomal dominant, multiple types, with microcornea Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Cataract, autosomal dominant, multiple types, with microcornea phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Mental retardation, autosomal recessive 2 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Mental retardation, autosomal recessive 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Mental retardation, autosomal recessive 7 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Mental retardation, autosomal recessive 7 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Mental retardation, autosomal recessive 5 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Mental retardation, autosomal recessive 5 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Craniodiaphyseal dysplasia, autosomal dominant Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Craniodiaphyseal dysplasia, autosomal dominant phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Nemaline myopathy 3, autosomal dominant or recessive Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Nemaline myopathy 3, autosomal dominant or recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Ectopia lentis, isolated autosomal recessive Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Ectopia lentis, isolated autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Primary hypertrophic osteoarthropathy, autosomal recessive 2 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Primary hypertrophic osteoarthropathy, autosomal recessive 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Autosomal recessive hypophosphatemic bone disease Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Autosomal recessive hypophosphatemic bone disease phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Inflammatory bowel disease 25, autosomal recessive Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Inflammatory bowel disease 25, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Mental retardation, autosomal dominant 30 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Mental retardation, autosomal dominant 30 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Deafness, autosomal recessive 30 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Deafness, autosomal recessive 30 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Deafness, autosomal recessive 37 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Deafness, autosomal recessive 37 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Deafness, autosomal recessive 35 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Deafness, autosomal recessive 35 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Deafness, autosomal recessive 39 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Deafness, autosomal recessive 39 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Dystonia, dopa-responsive, with or without hyperphenylalaninemia, autosomal recessive Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Dystonia, dopa-responsive, with or without hyperphenylalaninemia, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Osteopetrosis, autosomal recessive 8 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Osteopetrosis, autosomal recessive 8 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Mental retardation, autosomal dominant 24 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Mental retardation, autosomal dominant 24 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Mental retardation, autosomal dominant 28 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Mental retardation, autosomal dominant 28 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Spastic paraplegia 46, autosomal recessive Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Spastic paraplegia 46, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Spastic paraplegia 48, autosomal recessive Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Spastic paraplegia 48, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Autosomal dominant torsion dystonia 4 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Autosomal dominant torsion dystonia 4 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Mental retardation, autosomal dominant 23 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Mental retardation, autosomal dominant 23 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Mental retardation, autosomal dominant 27 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Mental retardation, autosomal dominant 27 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Mental retardation, autosomal dominant 29 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Mental retardation, autosomal dominant 29 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Tetraamelia, autosomal recessive Gene Set

From ClinVar Gene-Phenotype Associations

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

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

From ClinVar Gene-Phenotype Associations

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

Deafness, autosomal recessive 25 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Deafness, autosomal recessive 25 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Deafness, autosomal recessive 24 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Deafness, autosomal recessive 24 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Deafness, autosomal recessive 23 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Deafness, autosomal recessive 23 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Deafness, autosomal recessive 22 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Deafness, autosomal recessive 22 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Deafness, autosomal recessive 29 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Deafness, autosomal recessive 29 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Deafness, autosomal recessive 28 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Deafness, autosomal recessive 28 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Thyroid hormone resistance, generalized, autosomal recessive Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Thyroid hormone resistance, generalized, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Primary autosomal recessive microcephaly 7 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Primary autosomal recessive microcephaly 7 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Primary autosomal recessive microcephaly 5 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Primary autosomal recessive microcephaly 5 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Spastic paraplegia 4, autosomal dominant Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Spastic paraplegia 4, autosomal dominant phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Coronary artery disease, autosomal dominant 2 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Coronary artery disease, autosomal dominant 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Deafness, autosomal recessive 59 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Deafness, autosomal recessive 59 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Heterotaxy, visceral, 4, autosomal Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Heterotaxy, visceral, 4, autosomal phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Myoglobinuria, acute recurrent, autosomal recessive Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Myoglobinuria, acute recurrent, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Congenital stationary night blindness, autosomal dominant 3 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Congenital stationary night blindness, autosomal dominant 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Renal tubular acidosis, distal, autosomal recessive, with late-onset sensorineural hearing loss Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Renal tubular acidosis, distal, autosomal recessive, with late-onset sensorineural hearing loss phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Autosomal dominant isolated somatotropin deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Autosomal dominant isolated somatotropin deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Spinocerebellar ataxia autosomal recessive 1 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Spinocerebellar ataxia autosomal recessive 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Autosomal dominant nocturnal frontal lobe epilepsy Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Autosomal dominant nocturnal frontal lobe epilepsy phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Parkinson disease 6, autosomal recessive early-onset Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Parkinson disease 6, autosomal recessive early-onset phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Ceroid lipofuscinosis neuronal 4B autosomal dominant Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Ceroid lipofuscinosis neuronal 4B autosomal dominant 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.

Deafness, without vestibular involvement, autosomal dominant Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Deafness, without vestibular involvement, autosomal dominant phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Cataract, autosomal recessive congenital 2 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Cataract, autosomal recessive congenital 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Amyotrophic lateral sclerosis 1, autosomal recessive Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Amyotrophic lateral sclerosis 1, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Thrombophilia, hereditary, due to protein C deficiency, autosomal dominant Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Thrombophilia, hereditary, due to protein C deficiency, autosomal dominant phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Thyroid hormone resistance, generalized, autosomal dominant Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Thyroid hormone resistance, generalized, autosomal dominant phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Severe congenital neutropenia 3, autosomal recessive Gene Set

From ClinVar Gene-Phenotype Associations

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

Hypocalcemia, autosomal dominant 2 Gene Set

From ClinVar Gene-Phenotype Associations

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

Hypocalcemia, autosomal dominant 1 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Hypocalcemia, autosomal dominant 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Hydrocephalus, nonsyndromic, autosomal recessive 2 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Hydrocephalus, nonsyndromic, autosomal recessive 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Hypocalcemia, autosomal dominant Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Hypocalcemia, autosomal dominant phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Renal tubular acidosis, distal, autosomal dominant Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Renal tubular acidosis, distal, autosomal dominant phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Renal tubular acidosis, distal, autosomal recessive Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Renal tubular acidosis, distal, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Spastic paraplegia 54, autosomal recessive Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Spastic paraplegia 54, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Ataxia, spastic, 4, autosomal recessive Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Ataxia, spastic, 4, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Microcephaly 10, primary, autosomal recessive Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Microcephaly 10, primary, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Heterotopia, periventricular, autosomal recessive Gene Set

From ClinVar Gene-Phenotype Associations

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

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

From ClinVar Gene-Phenotype Associations

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

Rhegmatogenous retinal detachment, autosomal dominant Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Rhegmatogenous retinal detachment, autosomal dominant phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Persistent hyperplastic primary vitreous, autosomal recessive Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Persistent hyperplastic primary vitreous, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Epidermolysis bullosa dystrophica, autosomal recessive, localisata variant Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Epidermolysis bullosa dystrophica, autosomal recessive, localisata variant phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Spastic paraplegia 11, autosomal recessive Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Spastic paraplegia 11, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Spastic paraplegia 57, autosomal recessive Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Spastic paraplegia 57, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Spinocerebellar ataxia, autosomal recessive 7 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Spinocerebellar ataxia, autosomal recessive 7 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Deafness, autosomal recessive 102 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Deafness, autosomal recessive 102 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Keratitis, autosomal dominant Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Keratitis, autosomal dominant phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Heterotaxy, visceral, 2, autosomal Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Heterotaxy, visceral, 2, autosomal phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Spastic paraplegia 72, autosomal recessive Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Spastic paraplegia 72, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Myopia 23, autosomal recessive Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Myopia 23, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Parkinson disease 8, autosomal dominant Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Parkinson disease 8, autosomal dominant phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Mental retardation, autosomal dominant 9 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Mental retardation, autosomal dominant 9 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Mental retardation, autosomal dominant 8 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Mental retardation, autosomal dominant 8 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Deafness, autosomal recessive 8 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Deafness, autosomal recessive 8 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Deafness, autosomal recessive 9 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Deafness, autosomal recessive 9 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Deafness, autosomal recessive 3 Gene Set

From ClinVar Gene-Phenotype Associations

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

Deafness, autosomal recessive 6 Gene Set

From ClinVar Gene-Phenotype Associations

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

Deafness, autosomal recessive 7 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Deafness, autosomal recessive 7 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Ataxia, sensory, autosomal dominant Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Ataxia, sensory, autosomal dominant phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Spinocerebellar ataxia, autosomal recessive 15 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Spinocerebellar ataxia, autosomal recessive 15 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Spinocerebellar ataxia, autosomal recessive 12 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Spinocerebellar ataxia, autosomal recessive 12 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Spinocerebellar ataxia, autosomal recessive 11 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Spinocerebellar ataxia, autosomal recessive 11 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Spinocerebellar ataxia, autosomal recessive 10 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Spinocerebellar ataxia, autosomal recessive 10 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Spastic paraplegia 44, autosomal recessive Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Spastic paraplegia 44, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Spastic ataxia 5, autosomal recessive Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Spastic ataxia 5, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Osteopetrosis autosomal dominant type 1 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Osteopetrosis autosomal dominant type 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Indifference to pain, congenital, autosomal recessive Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Indifference to pain, congenital, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Congenital stationary night blindness, autosomal dominant 1 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Congenital stationary night blindness, autosomal dominant 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Spastic paraplegia 72, autosomal dominant Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Spastic paraplegia 72, autosomal dominant phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Craniometaphyseal dysplasia, autosomal dominant Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Craniometaphyseal dysplasia, autosomal dominant phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Retinal degeneration, autosomal recessive, clumped pigment type Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Retinal degeneration, autosomal recessive, clumped pigment type phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Amyotrophic lateral sclerosis 6, autosomal recessive Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Amyotrophic lateral sclerosis 6, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Epidermolysis bullosa simplex, autosomal recessive 2 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Epidermolysis bullosa simplex, autosomal recessive 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Deafness, autosomal recessive 18b Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Deafness, autosomal recessive 18b phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Chronic granulomatous disease, autosomal recessive cytochrome b-positive, type 1 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Chronic granulomatous disease, autosomal recessive cytochrome b-positive, type 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Chronic granulomatous disease, autosomal recessive cytochrome b-positive, type 2 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Chronic granulomatous disease, autosomal recessive cytochrome b-positive, type 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Chronic granulomatous disease, autosomal recessive cytochrome b-positive, type 3 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Chronic granulomatous disease, autosomal recessive cytochrome b-positive, type 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Spastic paraplegia 55, autosomal recessive Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Spastic paraplegia 55, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Autosomal recessive congenital ichthyosis 9 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Autosomal recessive congenital ichthyosis 9 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Hypercarotenemia and vitamin a deficiency, autosomal dominant Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Hypercarotenemia and vitamin a deficiency, autosomal dominant phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Ectodermal dysplasia, anhidrotic, with T-cell immunodeficiency, autosomal dominant Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Ectodermal dysplasia, anhidrotic, with T-cell immunodeficiency, autosomal dominant phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Mental retardation, autosomal recessive 18 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Mental retardation, autosomal recessive 18 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Spastic paraplegia 63, autosomal recessive Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Spastic paraplegia 63, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Mental retardation, autosomal recessive 27 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Mental retardation, autosomal recessive 27 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Spastic paraplegia 31, autosomal dominant Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Spastic paraplegia 31, autosomal dominant phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Nemaline myopathy 2, autosomal recessive Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Nemaline myopathy 2, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Congenital myotonia, autosomal recessive form Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Congenital myotonia, autosomal recessive form phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Deafness, autosomal recessive 91 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Deafness, autosomal recessive 91 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Severe congenital neutropenia 6, autosomal recessive Gene Set

From ClinVar Gene-Phenotype Associations

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

Optic atrophy and cataract, autosomal dominant Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Optic atrophy and cataract, autosomal dominant phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Deafness, autosomal dominant 11 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Deafness, autosomal dominant 11 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Deafness, autosomal recessive 84b Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Deafness, autosomal recessive 84b phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Autosomal dominant CD11C+/CD1C+ dendritic cell deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Autosomal dominant CD11C+/CD1C+ dendritic cell deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Spinal muscular atrophy, lower extremity predominant 2, autosomal dominant Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Spinal muscular atrophy, lower extremity predominant 2, autosomal dominant phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Cataract, congenital nuclear, autosomal recessive 2 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Cataract, congenital nuclear, autosomal recessive 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Cataract, congenital nuclear, autosomal recessive 3 Gene Set

From ClinVar Gene-Phenotype Associations

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

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Polymicrogyria, bilateral perisylvian, autosomal recessive Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Polymicrogyria, bilateral perisylvian, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Deafness, autosomal dominant 15 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Deafness, autosomal dominant 15 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Spinocerebellar ataxia autosomal recessive with axonal neuropathy Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Spinocerebellar ataxia autosomal recessive with axonal neuropathy phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Deafness, autosomal dominant 12 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Deafness, autosomal dominant 12 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Deafness, autosomal dominant 13 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Deafness, autosomal dominant 13 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Spinal muscular atrophy, lower extremity predominant 1, autosomal dominant Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Spinal muscular atrophy, lower extremity predominant 1, autosomal dominant phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Mental retardation, autosomal recessive 39 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Mental retardation, autosomal recessive 39 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Deafness, autosomal dominant nonsyndromic sensorineural 17 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Deafness, autosomal dominant nonsyndromic sensorineural 17 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Deafness, autosomal recessive 86 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Deafness, autosomal recessive 86 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Deafness, autosomal recessive 81 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Deafness, autosomal recessive 81 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Oculodentodigital dysplasia, autosomal recessive Gene Set

From ClinVar Gene-Phenotype Associations

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

Deafness, autosomal recessive 89 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Deafness, autosomal recessive 89 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Deafness, autosomal recessive 88 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Deafness, autosomal recessive 88 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Dyskeratosis congenita, autosomal dominant, 3 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Dyskeratosis congenita, autosomal dominant, 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Deafness, autosomal recessive 48 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Deafness, autosomal recessive 48 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Methionine adenosyltransferase deficiency, autosomal dominant Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Methionine adenosyltransferase deficiency, autosomal dominant phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Deafness, autosomal recessive 2 Gene Set

From ClinVar Gene-Phenotype Associations

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

Deafness, autosomal dominant 2b Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Deafness, autosomal dominant 2b phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Monocyte and dendritic cell deficiency, autosomal recessive Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Monocyte and dendritic cell deficiency, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Deafness, autosomal dominant 20 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Deafness, autosomal dominant 20 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Deafness, autosomal dominant 22 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Deafness, autosomal dominant 22 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Deafness, autosomal dominant 25 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Deafness, autosomal dominant 25 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Deafness, autosomal dominant 28 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Deafness, autosomal dominant 28 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Spinocerebellar ataxia, autosomal recessive 14 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Spinocerebellar ataxia, autosomal recessive 14 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Epilepsy, lateral temporal lobe, autosomal dominant Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Epilepsy, lateral temporal lobe, autosomal dominant phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Spinocerebellar ataxia, autosomal recessive 9 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Spinocerebellar ataxia, autosomal recessive 9 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Spinocerebellar ataxia, autosomal recessive 8 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Spinocerebellar ataxia, autosomal recessive 8 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Pseudohypoaldosteronism type 1 autosomal recessive Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Pseudohypoaldosteronism type 1 autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Mental retardation, autosomal recessive 38 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Mental retardation, autosomal recessive 38 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Sclerocornea, autosomal recessive Gene Set

From ClinVar Gene-Phenotype Associations

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

Spastic paraplegia 56, autosomal recessive Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Spastic paraplegia 56, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Mental retardation, autosomal recessive 34 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Mental retardation, autosomal recessive 34 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Deafness, autosomal recessive 53 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Deafness, autosomal recessive 53 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

MACROTHROMBOCYTOPENIA, AUTOSOMAL DOMINANT, TUBB1-RELATED Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the MACROTHROMBOCYTOPENIA, AUTOSOMAL DOMINANT, TUBB1-RELATED phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Spastic paraplegia 30, autosomal recessive Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Spastic paraplegia 30, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Deafness, autosomal recessive Gene Set

From ClinVar Gene-Phenotype Associations

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

Epidermolysis bullosa dystrophica inversa, autosomal recessive Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Epidermolysis bullosa dystrophica inversa, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Spastic paraplegia 33, autosomal dominant Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Spastic paraplegia 33, autosomal dominant phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Neuropathy, congenital hypomyelinating, autosomal dominant Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Neuropathy, congenital hypomyelinating, autosomal dominant phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Microcephaly and chorioretinopathy, autosomal recessive, 2 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Microcephaly and chorioretinopathy, autosomal recessive, 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Severe congenital neutropenia autosomal dominant Gene Set

From ClinVar Gene-Phenotype Associations

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

Dyskeratosis congenita, autosomal recessive, 3 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Dyskeratosis congenita, autosomal recessive, 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Deafness, autosomal dominant 3b Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Deafness, autosomal dominant 3b phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Deafness, autosomal dominant 3a Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Deafness, autosomal dominant 3a phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Agammaglobulinemia 6, autosomal recessive Gene Set

From ClinVar Gene-Phenotype Associations

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

Agammaglobulinemia 7, autosomal recessive Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Agammaglobulinemia 7, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Mental retardation, autosomal recessive 13 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Mental retardation, autosomal recessive 13 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Mental retardation, autosomal recessive 12 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Mental retardation, autosomal recessive 12 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Mental retardation, autosomal recessive 14 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Mental retardation, autosomal recessive 14 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Ataxia, spastic, 2, autosomal recessive Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Ataxia, spastic, 2, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Severe congenital neutropenia 2, autosomal dominant Gene Set

From ClinVar Gene-Phenotype Associations

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

Spinocerebellar ataxia autosomal recessive 5 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Spinocerebellar ataxia autosomal recessive 5 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Deafness, autosomal recessive 42 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Deafness, autosomal recessive 42 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Deafness, autosomal recessive 44 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Deafness, autosomal recessive 44 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Severe congenital neutropenia 4, autosomal recessive Gene Set

From ClinVar Gene-Phenotype Associations

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

Spastic paraplegia 45, autosomal recessive Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Spastic paraplegia 45, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Deafness, autosomal recessive 31 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Deafness, autosomal recessive 31 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.

Mycobacterial and viral infections, susceptibility to, autosomal recessive Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Mycobacterial and viral infections, susceptibility to, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Deafness, autosomal dominant 4b Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Deafness, autosomal dominant 4b phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Mental retardation, autosomal recessive 47 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Mental retardation, autosomal recessive 47 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Parkinson disease, autosomal recessive early-onset, digenic, PINK1/DJ1 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Parkinson disease, autosomal recessive early-onset, digenic, PINK1/DJ1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Deafness, autosomal dominant 48 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Deafness, autosomal dominant 48 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Deafness, autosomal dominant 41 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Deafness, autosomal dominant 41 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Slowed nerve conduction velocity, autosomal dominant Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Slowed nerve conduction velocity, autosomal dominant phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Osteopetrosis autosomal recessive 7 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Osteopetrosis autosomal recessive 7 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Osteopetrosis autosomal recessive 4 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Osteopetrosis autosomal recessive 4 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Osteopetrosis autosomal recessive 5 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Osteopetrosis autosomal recessive 5 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Osteopetrosis autosomal recessive 2 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Osteopetrosis autosomal recessive 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Osteopetrosis autosomal recessive 1 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Osteopetrosis autosomal recessive 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Dyskeratosis congenita autosomal dominant Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Dyskeratosis congenita autosomal dominant phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Amelogenesis imperfecta - hypoplastic autosomal dominant - local Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Amelogenesis imperfecta - hypoplastic autosomal dominant - local phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Hypercholesterolemia, autosomal dominant, type B Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Hypercholesterolemia, autosomal dominant, type B phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Deafness, autosomal recessive 76 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Deafness, autosomal recessive 76 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Deafness, autosomal recessive 77 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Deafness, autosomal recessive 77 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Deafness, autosomal recessive 74 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Deafness, autosomal recessive 74 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Deafness, autosomal recessive 70 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Deafness, autosomal recessive 70 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Deafness, autosomal recessive 79 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Deafness, autosomal recessive 79 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Autosomal recessive cutis laxa type 2B Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Autosomal recessive cutis laxa type 2B phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Pseudohypoaldosteronism type 1 autosomal dominant Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Pseudohypoaldosteronism type 1 autosomal dominant phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Autosomal recessive cutis laxa type IA Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Autosomal recessive cutis laxa type IA phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Autosomal recessive centronuclear myopathy Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Autosomal recessive centronuclear myopathy phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Deafness, autosomal dominant 56 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Deafness, autosomal dominant 56 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Autosomal recessive congenital ichthyosis 5 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Autosomal recessive congenital ichthyosis 5 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Autosomal recessive congenital ichthyosis 6 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Autosomal recessive congenital ichthyosis 6 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Autosomal recessive congenital ichthyosis 1 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Autosomal recessive congenital ichthyosis 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Autosomal recessive congenital ichthyosis 2 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Autosomal recessive congenital ichthyosis 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Autosomal recessive congenital ichthyosis 3 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Autosomal recessive congenital ichthyosis 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Myopia 22, autosomal dominant Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Myopia 22, autosomal dominant phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Mental retardation, autosomal dominant 19 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Mental retardation, autosomal dominant 19 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Hypercholesterolemia, autosomal dominant, 3 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Hypercholesterolemia, autosomal dominant, 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Mental retardation, autosomal dominant 13 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Mental retardation, autosomal dominant 13 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Mental retardation, autosomal dominant 1 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Mental retardation, autosomal dominant 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Mental retardation, autosomal dominant 3 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Mental retardation, autosomal dominant 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Mental retardation, autosomal dominant 5 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Mental retardation, autosomal dominant 5 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Mental retardation, autosomal dominant 4 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Mental retardation, autosomal dominant 4 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Mental retardation, autosomal dominant 7 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Mental retardation, autosomal dominant 7 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Mental retardation, autosomal dominant 6 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Mental retardation, autosomal dominant 6 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Deafness, autosomal recessive 18 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Deafness, autosomal recessive 18 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Deafness, autosomal recessive 61 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Deafness, autosomal recessive 61 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Deafness, autosomal recessive 63 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Deafness, autosomal recessive 63 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Deafness, autosomal recessive 67 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Deafness, autosomal recessive 67 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Thrombophilia, hereditary, due to protein C deficiency, autosomal recessive Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Thrombophilia, hereditary, due to protein C deficiency, autosomal recessive 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.

Autosomal recessive congenital ichthyosis 4A Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Autosomal recessive congenital ichthyosis 4A phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Autosomal recessive congenital ichthyosis 4B Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Autosomal recessive congenital ichthyosis 4B phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Autosomal recessive cutis laxa type 3B Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Autosomal recessive cutis laxa type 3B phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Microcephaly 11, primary, autosomal recessive Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Microcephaly 11, primary, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Deafness, autosomal dominant 64 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Deafness, autosomal dominant 64 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Spastic paraplegia 42, autosomal dominant Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Spastic paraplegia 42, autosomal dominant phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Microcephaly with chorioretinopathy, autosomal recessive Gene Set

From ClinVar Gene-Phenotype Associations

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

Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 4 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 4 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 1 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 2 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Gonadal dysgenesis with auditory dysfunction, autosomal recessive inheritance Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Gonadal dysgenesis with auditory dysfunction, autosomal recessive inheritance phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Mental retardation, autosomal recessive 40 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Mental retardation, autosomal recessive 40 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Mental retardation, autosomal recessive 41 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Mental retardation, autosomal recessive 41 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Mental retardation, autosomal recessive 42 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Mental retardation, autosomal recessive 42 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Mental retardation, autosomal recessive 43 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Mental retardation, autosomal recessive 43 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Mental retardation, autosomal recessive 44 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Mental retardation, autosomal recessive 44 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Mental retardation, autosomal recessive 45 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Mental retardation, autosomal recessive 45 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Mental retardation, autosomal recessive 46 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Mental retardation, autosomal recessive 46 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Autosomal dominant hypophosphatemic rickets Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Autosomal dominant hypophosphatemic rickets phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Bestrophinopathy, autosomal recessive Gene Set

From ClinVar Gene-Phenotype Associations

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

Microcephaly 9, primary, autosomal recessive Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Microcephaly 9, primary, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Cataract, autosomal dominant Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Cataract, autosomal dominant phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Anemia, sideroblastic, pyridoxine-refractory, autosomal recessive Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Anemia, sideroblastic, pyridoxine-refractory, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Distal spinal muscular atrophy, autosomal recessive 4 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Distal spinal muscular atrophy, autosomal recessive 4 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Mental retardation, autosomal dominant 18 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Mental retardation, autosomal dominant 18 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Ectopia lentis, isolated, autosomal dominant Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Ectopia lentis, isolated, autosomal dominant phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Mental retardation, autosomal dominant 12 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Mental retardation, autosomal dominant 12 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Mental retardation, autosomal dominant 15 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Mental retardation, autosomal dominant 15 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Mental retardation, autosomal dominant 14 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Mental retardation, autosomal dominant 14 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Mental retardation, autosomal dominant 17 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Mental retardation, autosomal dominant 17 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Hypophosphatemic rickets, autosomal recessive, 2 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Hypophosphatemic rickets, autosomal recessive, 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Deafness, autosomal recessive 15 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Deafness, autosomal recessive 15 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Deafness, autosomal recessive 16 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Deafness, autosomal recessive 16 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Deafness, autosomal recessive 12 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Deafness, autosomal recessive 12 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Microcephaly 13, primary, autosomal recessive Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Microcephaly 13, primary, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Deafness, autosomal recessive 1A Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Deafness, autosomal recessive 1A phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Spastic paraplegia 20, autosomal recessive Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Spastic paraplegia 20, autosomal recessive from the curated CTD Gene-Disease Associations dataset.

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

From CTD Gene-Disease Associations

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

Deafness, Autosomal Dominant 39, with Dentinogenesis Imperfecta 1 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Deafness, Autosomal Dominant 39, with Dentinogenesis Imperfecta 1 from the curated CTD Gene-Disease Associations dataset.

Deafness, Autosomal Recessive 1b Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Deafness, Autosomal Recessive 1b from the curated CTD Gene-Disease Associations dataset.

Deafness, Autosomal Recessive 32 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Deafness, Autosomal Recessive 32 from the curated CTD Gene-Disease Associations dataset.

Deafness, Autosomal Recessive 1A Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Deafness, Autosomal Recessive 1A from the curated CTD Gene-Disease Associations dataset.

Deafness, Autosomal Recessive 14 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Deafness, Autosomal Recessive 14 from the curated CTD Gene-Disease Associations dataset.

Deafness, Autosomal Recessive 16 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Deafness, Autosomal Recessive 16 from the curated CTD Gene-Disease Associations dataset.

Deafness, Autosomal Recessive 17 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Deafness, Autosomal Recessive 17 from the curated CTD Gene-Disease Associations dataset.

Spastic Paraplegia 32, Autosomal Recessive Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Spastic Paraplegia 32, Autosomal Recessive from the curated CTD Gene-Disease Associations dataset.

Spastic Paraplegia 36, Autosomal Dominant Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Spastic Paraplegia 36, Autosomal Dominant from the curated CTD Gene-Disease Associations dataset.

Osteopetrosis, Autosomal Recessive 1 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Osteopetrosis, Autosomal Recessive 1 from the curated CTD Gene-Disease Associations dataset.

Osteopetrosis, Autosomal Recessive 7 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Osteopetrosis, Autosomal Recessive 7 from the curated CTD Gene-Disease Associations dataset.

Osteopetrosis, Autosomal Recessive 5 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Osteopetrosis, Autosomal Recessive 5 from the curated CTD Gene-Disease Associations dataset.

Osteopetrosis, Autosomal Recessive 4 Gene Set

From CTD Gene-Disease Associations

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

DEAFNESS, AUTOSOMAL RECESSIVE 36, WITH OR WITHOUT VESTIBULAR INVOLVEMENT Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease DEAFNESS, AUTOSOMAL RECESSIVE 36, WITH OR WITHOUT VESTIBULAR INVOLVEMENT from the curated CTD Gene-Disease Associations dataset.

Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Recessive Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Recessive from the curated CTD Gene-Disease Associations dataset.

Thyroid Hormone Resistance, Generalized, Autosomal Dominant Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Thyroid Hormone Resistance, Generalized, Autosomal Dominant from the curated CTD Gene-Disease Associations dataset.

HYPERTROPHIC OSTEOARTHROPATHY, PRIMARY, AUTOSOMAL RECESSIVE, 1 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease HYPERTROPHIC OSTEOARTHROPATHY, PRIMARY, AUTOSOMAL RECESSIVE, 1 from the curated CTD Gene-Disease Associations dataset.

Night Blindness, Congenital Stationary, Autosomal Dominant 3 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Night Blindness, Congenital Stationary, Autosomal Dominant 3 from the curated CTD Gene-Disease Associations dataset.

Deafness, Autosomal Dominant 44 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Deafness, Autosomal Dominant 44 from the curated CTD Gene-Disease Associations dataset.

Heterotopia, Periventricular, Autosomal Recessive Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Heterotopia, Periventricular, Autosomal Recessive from the curated CTD Gene-Disease Associations dataset.

WOOLLY HAIR, AUTOSOMAL DOMINANT Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease WOOLLY HAIR, AUTOSOMAL DOMINANT from the curated CTD Gene-Disease Associations dataset.

OSTEOPETROSIS, AUTOSOMAL RECESSIVE 2 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease OSTEOPETROSIS, AUTOSOMAL RECESSIVE 2 from the curated CTD Gene-Disease Associations dataset.

Deafness, Autosomal Dominant 47 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Deafness, Autosomal Dominant 47 from the curated CTD Gene-Disease Associations dataset.

Amyotrophic Lateral Sclerosis 6, Autosomal Recessive Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Amyotrophic Lateral Sclerosis 6, Autosomal Recessive from the curated CTD Gene-Disease Associations dataset.

Deafness, Autosomal Recessive 67 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Deafness, Autosomal Recessive 67 from the curated CTD Gene-Disease Associations dataset.

Deafness, Autosomal Recessive 13 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Deafness, Autosomal Recessive 13 from the curated CTD Gene-Disease Associations dataset.

Ichthyosis with hypotrichosis, autosomal recessive Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Ichthyosis with hypotrichosis, autosomal recessive from the curated CTD Gene-Disease Associations dataset.

Mental Retardation, Autosomal Recessive 13 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Mental Retardation, Autosomal Recessive 13 from the curated CTD Gene-Disease Associations dataset.

Filaminopathy, autosomal dominant Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Filaminopathy, autosomal dominant from the curated CTD Gene-Disease Associations dataset.

Deafness, Autosomal Dominant 25 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Deafness, Autosomal Dominant 25 from the curated CTD Gene-Disease Associations dataset.

DEAFNESS, AUTOSOMAL RECESSIVE 91 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease DEAFNESS, AUTOSOMAL RECESSIVE 91 from the curated CTD Gene-Disease Associations dataset.

Deafness, Autosomal Recessive 77 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Deafness, Autosomal Recessive 77 from the curated CTD Gene-Disease Associations dataset.

Deafness, Autosomal Dominant 15 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Deafness, Autosomal Dominant 15 from the curated CTD Gene-Disease Associations dataset.

Deafness, Autosomal Dominant 10 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Deafness, Autosomal Dominant 10 from the curated CTD Gene-Disease Associations dataset.

Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type I Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type I from the curated CTD Gene-Disease Associations dataset.

DEAFNESS, AUTOSOMAL DOMINANT 27 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease DEAFNESS, AUTOSOMAL DOMINANT 27 from the curated CTD Gene-Disease Associations dataset.

Hypophosphatemic Rickets, Autosomal Dominant Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Hypophosphatemic Rickets, Autosomal Dominant from the curated CTD Gene-Disease Associations dataset.

Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 3 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 3 from the curated CTD Gene-Disease Associations dataset.

DEAFNESS, AUTOSOMAL RECESSIVE 85 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease DEAFNESS, AUTOSOMAL RECESSIVE 85 from the curated CTD Gene-Disease Associations dataset.

Neutropenia, Severe Congenital, Autosomal Dominant 2 Gene Set

From CTD Gene-Disease Associations

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

Deafness, Autosomal Recessive 79 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Deafness, Autosomal Recessive 79 from the curated CTD Gene-Disease Associations dataset.

Osteopetrosis, Autosomal Recessive 6 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Osteopetrosis, Autosomal Recessive 6 from the curated CTD Gene-Disease Associations dataset.

Deafness, Autosomal Recessive 33 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Deafness, Autosomal Recessive 33 from the curated CTD Gene-Disease Associations dataset.

Deafness, Autosomal Recessive 31 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Deafness, Autosomal Recessive 31 from the curated CTD Gene-Disease Associations dataset.

Deafness, Autosomal Recessive 37 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Deafness, Autosomal Recessive 37 from the curated CTD Gene-Disease Associations dataset.

Deafness, Autosomal Recessive 35 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Deafness, Autosomal Recessive 35 from the curated CTD Gene-Disease Associations dataset.

Deafness, Autosomal Recessive 38 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Deafness, Autosomal Recessive 38 from the curated CTD Gene-Disease Associations dataset.

Deafness, Autosomal Recessive 39 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Deafness, Autosomal Recessive 39 from the curated CTD Gene-Disease Associations dataset.

Mandibulofacial dysostosis, Treacher Collins type, autosomal recessive Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Mandibulofacial dysostosis, Treacher Collins type, autosomal recessive from the curated CTD Gene-Disease Associations dataset.

DEAFNESS, AUTOSOMAL RECESSIVE 83 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease DEAFNESS, AUTOSOMAL RECESSIVE 83 from the curated CTD Gene-Disease Associations dataset.

Nystagmus 2, congenital, autosomal dominant Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Nystagmus 2, congenital, autosomal dominant from the curated CTD Gene-Disease Associations dataset.

Ataxia, Spastic, 3, Autosomal Recessive Gene Set

From CTD Gene-Disease Associations

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

Coronary Artery Disease, Autosomal Dominant 2 Gene Set

From CTD Gene-Disease Associations

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

Deafness, Autosomal Recessive 40 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Deafness, Autosomal Recessive 40 from the curated CTD Gene-Disease Associations dataset.

Nystagmus 4, congenital, autosomal dominant Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Nystagmus 4, congenital, autosomal dominant from the curated CTD Gene-Disease Associations dataset.

Deafness, Autosomal Recessive 46 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Deafness, Autosomal Recessive 46 from the curated CTD Gene-Disease Associations dataset.

Candidiasis familial chronic mucocutaneous, autosomal recessive Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Candidiasis familial chronic mucocutaneous, autosomal recessive from the curated CTD Gene-Disease Associations dataset.

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

From CTD Gene-Disease Associations

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

Deafness, Autosomal Recessive 44 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Deafness, Autosomal Recessive 44 from the curated CTD Gene-Disease Associations dataset.

Spastic Paraplegia 7, Autosomal Recessive Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Spastic Paraplegia 7, Autosomal Recessive from the curated CTD Gene-Disease Associations dataset.

Hypercholesterolemia, Autosomal Recessive Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Hypercholesterolemia, Autosomal Recessive from the curated CTD Gene-Disease Associations dataset.

Spinal Muscular Atrophy, Proximal, Adult, Autosomal Dominant Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Spinal Muscular Atrophy, Proximal, Adult, Autosomal Dominant from the curated CTD Gene-Disease Associations dataset.

Deafness, Autosomal Recessive 26 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Deafness, Autosomal Recessive 26 from the curated CTD Gene-Disease Associations dataset.

Ectodermal Dysplasia, Anhidrotic, With T-Cell Immunodeficiency, Autosomal Dominant Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Ectodermal Dysplasia, Anhidrotic, With T-Cell Immunodeficiency, Autosomal Dominant from the curated CTD Gene-Disease Associations dataset.

Spastic paraplegia 4, autosomal dominant Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Spastic paraplegia 4, autosomal dominant from the curated CTD Gene-Disease Associations dataset.

Indifference to Pain, Congenital, Autosomal Recessive Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Indifference to Pain, Congenital, Autosomal Recessive from the curated CTD Gene-Disease Associations dataset.

Deafness, Autosomal Recessive 27 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Deafness, Autosomal Recessive 27 from the curated CTD Gene-Disease Associations dataset.

Deafness, Autosomal Recessive 22 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Deafness, Autosomal Recessive 22 from the curated CTD Gene-Disease Associations dataset.

Inflammatory Bowel Disease 25, Autosomal Recessive Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Inflammatory Bowel Disease 25, Autosomal Recessive from the curated CTD Gene-Disease Associations dataset.

Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Negative Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Negative from the curated CTD Gene-Disease Associations dataset.

Hypercholesterolemia, Autosomal Dominant, 3 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Hypercholesterolemia, Autosomal Dominant, 3 from the curated CTD Gene-Disease Associations dataset.

DEAFNESS, AUTOSOMAL RECESSIVE 8 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease DEAFNESS, AUTOSOMAL RECESSIVE 8 from the curated CTD Gene-Disease Associations dataset.

PARKINSON DISEASE 8, AUTOSOMAL DOMINANT Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease PARKINSON DISEASE 8, AUTOSOMAL DOMINANT from the curated CTD Gene-Disease Associations dataset.

Deafness, Autosomal Recessive 62 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Deafness, Autosomal Recessive 62 from the curated CTD Gene-Disease Associations dataset.

Spastic Paraplegia 31, Autosomal Dominant Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Spastic Paraplegia 31, Autosomal Dominant from the curated CTD Gene-Disease Associations dataset.

DEAFNESS, AUTOSOMAL DOMINANT 4A Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease DEAFNESS, AUTOSOMAL DOMINANT 4A from the curated CTD Gene-Disease Associations dataset.

Spastic Paraplegia 42, Autosomal Dominant Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Spastic Paraplegia 42, Autosomal Dominant from the curated CTD Gene-Disease Associations dataset.

PARKINSON DISEASE 14, AUTOSOMAL RECESSIVE Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease PARKINSON DISEASE 14, AUTOSOMAL RECESSIVE from the curated CTD Gene-Disease Associations dataset.

Spastic Paraplegia 33, Autosomal Dominant Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Spastic Paraplegia 33, Autosomal Dominant from the curated CTD Gene-Disease Associations dataset.

Slowed Nerve Conduction Velocity, Autosomal Dominant Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Slowed Nerve Conduction Velocity, Autosomal Dominant from the curated CTD Gene-Disease Associations dataset.

Dystonia 17, Torsion, Autosomal Recessive Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Dystonia 17, Torsion, Autosomal Recessive from the curated CTD Gene-Disease Associations dataset.

Spastic paraplegia 11, autosomal recessive Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Spastic paraplegia 11, autosomal recessive from the curated CTD Gene-Disease Associations dataset.

Deafness, Autosomal Recessive, 24 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Deafness, Autosomal Recessive, 24 from the curated CTD Gene-Disease Associations dataset.

CHARCOT-MARIE-TOOTH DISEASE, AXONAL, WITH VOCAL CORD PARESIS, AUTOSOMAL RECESSIVE Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease CHARCOT-MARIE-TOOTH DISEASE, AXONAL, WITH VOCAL CORD PARESIS, AUTOSOMAL RECESSIVE from the curated CTD Gene-Disease Associations dataset.

Polycystic Kidney, Autosomal Recessive Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Polycystic Kidney, Autosomal Recessive from the curated CTD Gene-Disease Associations dataset.

Spinocerebellar Ataxia, Autosomal Recessive 9 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Spinocerebellar Ataxia, Autosomal Recessive 9 from the curated CTD Gene-Disease Associations dataset.

Spinocerebellar Ataxia, Autosomal Recessive 8 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Spinocerebellar Ataxia, Autosomal Recessive 8 from the curated CTD Gene-Disease Associations dataset.

SPASTIC PARAPLEGIA 35, AUTOSOMAL RECESSIVE Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease SPASTIC PARAPLEGIA 35, AUTOSOMAL RECESSIVE from the curated CTD Gene-Disease Associations dataset.

Spastic paraplegia 10, autosomal dominant Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Spastic paraplegia 10, autosomal dominant from the curated CTD Gene-Disease Associations dataset.

Renal tubular acidosis, distal, autosomal recessive Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Renal tubular acidosis, distal, autosomal recessive from the curated CTD Gene-Disease Associations dataset.

Mental Retardation, Autosomal Dominant 3 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Mental Retardation, Autosomal Dominant 3 from the curated CTD Gene-Disease Associations dataset.

Mental Retardation, Autosomal Dominant 5 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Mental Retardation, Autosomal Dominant 5 from the curated CTD Gene-Disease Associations dataset.

Mental Retardation, Autosomal Dominant 4 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Mental Retardation, Autosomal Dominant 4 from the curated CTD Gene-Disease Associations dataset.

Spastic Paraplegia 44, Autosomal Recessive Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Spastic Paraplegia 44, Autosomal Recessive from the curated CTD Gene-Disease Associations dataset.

Spastic paraplegia 25, autosomal recessive Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Spastic paraplegia 25, autosomal recessive from the curated CTD Gene-Disease Associations dataset.

Parkinson Disease 3, Autosomal Dominant Lewy Body Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Parkinson Disease 3, Autosomal Dominant Lewy Body from the curated CTD Gene-Disease Associations dataset.

Myopathy, Hyaline Body, Autosomal Recessive Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Myopathy, Hyaline Body, Autosomal Recessive from the curated CTD Gene-Disease Associations dataset.

Polycystic Kidney, Autosomal Dominant Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Polycystic Kidney, Autosomal Dominant from the curated CTD Gene-Disease Associations dataset.

PARKINSON DISEASE 5, AUTOSOMAL DOMINANT Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease PARKINSON DISEASE 5, AUTOSOMAL DOMINANT from the curated CTD Gene-Disease Associations dataset.

HETEROTAXY, VISCERAL, 5, AUTOSOMAL Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease HETEROTAXY, VISCERAL, 5, AUTOSOMAL from the curated CTD Gene-Disease Associations dataset.

SPASTIC ATAXIA 4, AUTOSOMAL RECESSIVE Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease SPASTIC ATAXIA 4, AUTOSOMAL RECESSIVE from the curated CTD Gene-Disease Associations dataset.

Thyroid Hormone Resistance, Generalized, Autosomal Recessive Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Thyroid Hormone Resistance, Generalized, Autosomal Recessive from the curated CTD Gene-Disease Associations dataset.

THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANT Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANT from the curated CTD Gene-Disease Associations dataset.

Cutis Laxa, Autosomal Recessive, Type IIA Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Cutis Laxa, Autosomal Recessive, Type IIA from the curated CTD Gene-Disease Associations dataset.

Cutis Laxa, Autosomal Recessive, Type IIB Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Cutis Laxa, Autosomal Recessive, Type IIB from the curated CTD Gene-Disease Associations dataset.

Spastic paraplegia 15, autosomal recessive Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Spastic paraplegia 15, autosomal recessive from the curated CTD Gene-Disease Associations dataset.

Deafness, Autosomal Dominant 53 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Deafness, Autosomal Dominant 53 from the curated CTD Gene-Disease Associations dataset.

Cerebral Palsy, Ataxic, Autosomal Recessive Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Cerebral Palsy, Ataxic, Autosomal Recessive from the curated CTD Gene-Disease Associations dataset.

Deafness, Autosomal Dominant 49 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Deafness, Autosomal Dominant 49 from the curated CTD Gene-Disease Associations dataset.

Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy from the curated CTD Gene-Disease Associations dataset.

DEAFNESS, AUTOSOMAL RECESSIVE 18A Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease DEAFNESS, AUTOSOMAL RECESSIVE 18A from the curated CTD Gene-Disease Associations dataset.

Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 4 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 4 from the curated CTD Gene-Disease Associations dataset.

Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 2 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 2 from the curated CTD Gene-Disease Associations dataset.

Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 1 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 1 from the curated CTD Gene-Disease Associations dataset.

Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type II Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type II from the curated CTD Gene-Disease Associations dataset.

DEAFNESS, AUTOSOMAL RECESSIVE 74 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease DEAFNESS, AUTOSOMAL RECESSIVE 74 from the curated CTD Gene-Disease Associations dataset.

Spinal Muscular Atrophy, Distal, Autosomal Recessive, 4 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Spinal Muscular Atrophy, Distal, Autosomal Recessive, 4 from the curated CTD Gene-Disease Associations dataset.

Spastic Paraplegia 39, Autosomal Recessive Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Spastic Paraplegia 39, Autosomal Recessive from the curated CTD Gene-Disease Associations dataset.

Deafness, Autosomal Recessive 30 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Deafness, Autosomal Recessive 30 from the curated CTD Gene-Disease Associations dataset.

Heterotaxy, Visceral, 3, Autosomal Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Heterotaxy, Visceral, 3, Autosomal from the curated CTD Gene-Disease Associations dataset.

Spastic paraplegia 9, autosomal dominant Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Spastic paraplegia 9, autosomal dominant from the curated CTD Gene-Disease Associations dataset.

Spastic Paraplegia 37, Autosomal Dominant Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Spastic Paraplegia 37, Autosomal Dominant from the curated CTD Gene-Disease Associations dataset.

Deafness, Autosomal Recessive 28 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Deafness, Autosomal Recessive 28 from the curated CTD Gene-Disease Associations dataset.

Osteopetrosis autosomal dominant type 1 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Osteopetrosis autosomal dominant type 1 from the curated CTD Gene-Disease Associations dataset.

Deafness, Autosomal Recessive 59 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Deafness, Autosomal Recessive 59 from the curated CTD Gene-Disease Associations dataset.

Craniometaphyseal Dysplasia, Autosomal Dominant Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Craniometaphyseal Dysplasia, Autosomal Dominant from the curated CTD Gene-Disease Associations dataset.

Familial Mediterranean Fever, Autosomal Dominant Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Familial Mediterranean Fever, Autosomal Dominant from the curated CTD Gene-Disease Associations dataset.

Spastic Paraplegia-50, Autosomal Recessive Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Spastic Paraplegia-50, Autosomal Recessive from the curated CTD Gene-Disease Associations dataset.

Spastic paraplegia 3, autosomal dominant Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Spastic paraplegia 3, autosomal dominant from the curated CTD Gene-Disease Associations dataset.

Cataract, Autosomal Dominant Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Cataract, Autosomal Dominant from the curated CTD Gene-Disease Associations dataset.

Spastic Paraplegia 38, Autosomal Dominant Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Spastic Paraplegia 38, Autosomal Dominant from the curated CTD Gene-Disease Associations dataset.

Deafness, Autosomal Dominant 48 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Deafness, Autosomal Dominant 48 from the curated CTD Gene-Disease Associations dataset.

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

From CTD Gene-Disease Associations

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

SPASTIC PARAPLEGIA 45, AUTOSOMAL RECESSIVE Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease SPASTIC PARAPLEGIA 45, AUTOSOMAL RECESSIVE from the curated CTD Gene-Disease Associations dataset.

DEAFNESS, AUTOSOMAL RECESSIVE 84A Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease DEAFNESS, AUTOSOMAL RECESSIVE 84A from the curated CTD Gene-Disease Associations dataset.

Mental Retardation, Autosomal Recessive 9 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Mental Retardation, Autosomal Recessive 9 from the curated CTD Gene-Disease Associations dataset.

Macrothrombocytopenia, Autosomal Dominant, Tubb1-Related Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Macrothrombocytopenia, Autosomal Dominant, Tubb1-Related from the curated CTD Gene-Disease Associations dataset.

Spastic paraplegia 14, autosomal recessive Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Spastic paraplegia 14, autosomal recessive from the curated CTD Gene-Disease Associations dataset.

Spastic paraplegia 29, autosomal dominant Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Spastic paraplegia 29, autosomal dominant from the curated CTD Gene-Disease Associations dataset.

Neutropenia, Severe Congenital, Autosomal Dominant 1 Gene Set

From CTD Gene-Disease Associations

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

Mental Retardation, Autosomal Recessive 3 Gene Set

From CTD Gene-Disease Associations

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

Ectodermal Dysplasia, Hypohidrotic, Autosomal Recessive Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Ectodermal Dysplasia, Hypohidrotic, Autosomal Recessive from the curated CTD Gene-Disease Associations dataset.

AGAMMAGLOBULINEMIA 1, AUTOSOMAL RECESSIVE Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease AGAMMAGLOBULINEMIA 1, AUTOSOMAL RECESSIVE from the curated CTD Gene-Disease Associations dataset.

Striatal Degeneration, Autosomal Dominant Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Striatal Degeneration, Autosomal Dominant from the curated CTD Gene-Disease Associations dataset.

Deafness, Autosomal Dominant 23 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Deafness, Autosomal Dominant 23 from the curated CTD Gene-Disease Associations dataset.

Deafness, Autosomal Dominant 28 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Deafness, Autosomal Dominant 28 from the curated CTD Gene-Disease Associations dataset.

Short Stature, Idiopathic, Autosomal Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Short Stature, Idiopathic, Autosomal from the curated CTD Gene-Disease Associations dataset.

Anemia, Sideroblastic, Pyridoxine-Refractory, Autosomal Recessive Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Anemia, Sideroblastic, Pyridoxine-Refractory, Autosomal Recessive from the curated CTD Gene-Disease Associations dataset.

ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 6 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 6 from the curated CTD Gene-Disease Associations dataset.

Mental Retardation, Autosomal Recessive 4 Gene Set

From CTD Gene-Disease Associations

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

Optic atrophy and cataract, autosomal dominant Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Optic atrophy and cataract, autosomal dominant from the curated CTD Gene-Disease Associations dataset.

DEAFNESS, AUTOSOMAL RECESSIVE 25 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease DEAFNESS, AUTOSOMAL RECESSIVE 25 from the curated CTD Gene-Disease Associations dataset.

Mental Retardation, Autosomal Recessive 11 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Mental Retardation, Autosomal Recessive 11 from the curated CTD Gene-Disease Associations dataset.

Mental Retardation, Autosomal Recessive 10 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Mental Retardation, Autosomal Recessive 10 from the curated CTD Gene-Disease Associations dataset.

Mental Retardation, Autosomal Recessive 8 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Mental Retardation, Autosomal Recessive 8 from the curated CTD Gene-Disease Associations dataset.

Parkinson Disease 6, Autosomal Recessive Early-Onset Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Parkinson Disease 6, Autosomal Recessive Early-Onset from the curated CTD Gene-Disease Associations dataset.

Deafness, Autosomal Dominant 43 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Deafness, Autosomal Dominant 43 from the curated CTD Gene-Disease Associations dataset.

Cataract, Autosomal Recessive Congenital 3 Gene Set

From CTD Gene-Disease Associations

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

Microcephaly, Primary Autosomal Recessive, 5 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Microcephaly, Primary Autosomal Recessive, 5 from the curated CTD Gene-Disease Associations dataset.

Spastic paraplegia 6, autosomal dominant Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Spastic paraplegia 6, autosomal dominant from the curated CTD Gene-Disease Associations dataset.

Spastic paraplegia 8, autosomal dominant Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Spastic paraplegia 8, autosomal dominant from the curated CTD Gene-Disease Associations dataset.

Spinocerebellar ataxia, autosomal recessive 3 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Spinocerebellar ataxia, autosomal recessive 3 from the curated CTD Gene-Disease Associations dataset.

Sensorimotor neuropathy with ataxia, autosomal dominant Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Sensorimotor neuropathy with ataxia, autosomal dominant from the curated CTD Gene-Disease Associations dataset.

Hypophosphatemic Rickets, Autosomal Recessive, 2 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Hypophosphatemic Rickets, Autosomal Recessive, 2 from the curated CTD Gene-Disease Associations dataset.

Hypophosphatemic Rickets, Autosomal Recessive, 1 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Hypophosphatemic Rickets, Autosomal Recessive, 1 from the curated CTD Gene-Disease Associations dataset.

Dyskeratosis Congenita, Autosomal Dominant Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Dyskeratosis Congenita, Autosomal Dominant from the curated CTD Gene-Disease Associations dataset.

Microcephaly, Primary Autosomal Recessive, 4 Gene Set

From CTD Gene-Disease Associations

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

Microcephaly, Primary Autosomal Recessive, 6 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Microcephaly, Primary Autosomal Recessive, 6 from the curated CTD Gene-Disease Associations dataset.

Deafness, Autosomal Dominant 6 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Deafness, Autosomal Dominant 6 from the curated CTD Gene-Disease Associations dataset.

Deafness, Autosomal Dominant 5 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Deafness, Autosomal Dominant 5 from the curated CTD Gene-Disease Associations dataset.

Deafness, Autosomal Dominant 1 Gene Set

From CTD Gene-Disease Associations

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

Deafness, Autosomal Dominant 9 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Deafness, Autosomal Dominant 9 from the curated CTD Gene-Disease Associations dataset.

Deafness, Autosomal Dominant 2B Gene Set

From CTD Gene-Disease Associations

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

Deafness, autosomal dominant nonsyndromic sensorineural 17 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Deafness, autosomal dominant nonsyndromic sensorineural 17 from the curated CTD Gene-Disease Associations dataset.

Deafness, Autosomal Recessive 2 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Deafness, Autosomal Recessive 2 from the curated CTD Gene-Disease Associations dataset.

Mental Retardation, Autosomal Recessive 2 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Mental Retardation, Autosomal Recessive 2 from the curated CTD Gene-Disease Associations dataset.

Mental Retardation, Autosomal Recessive 7 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Mental Retardation, Autosomal Recessive 7 from the curated CTD Gene-Disease Associations dataset.

Mental Retardation, Autosomal Recessive 6 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Mental Retardation, Autosomal Recessive 6 from the curated CTD Gene-Disease Associations dataset.

Deafness, Autosomal Recessive 5 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Deafness, Autosomal Recessive 5 from the curated CTD Gene-Disease Associations dataset.

Cataract, Autosomal Recessive, Early-Onset, Pulverulent Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Cataract, Autosomal Recessive, Early-Onset, Pulverulent from the curated CTD Gene-Disease Associations dataset.

SPASTIC PARAPLEGIA 48, AUTOSOMAL RECESSIVE Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease SPASTIC PARAPLEGIA 48, AUTOSOMAL RECESSIVE from the curated CTD Gene-Disease Associations dataset.

Microcephaly, Primary Autosomal Recessive, 7 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Microcephaly, Primary Autosomal Recessive, 7 from the curated CTD Gene-Disease Associations dataset.

Deafness, Autosomal Recessive 21 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Deafness, Autosomal Recessive 21 from the curated CTD Gene-Disease Associations dataset.

PARKINSON DISEASE 1, AUTOSOMAL DOMINANT Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease PARKINSON DISEASE 1, AUTOSOMAL DOMINANT from the curated CTD Gene-Disease Associations dataset.

Colorectal Adenomatous Polyposis, Autosomal Recessive Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Colorectal Adenomatous Polyposis, Autosomal Recessive from the curated CTD Gene-Disease Associations dataset.

BESTROPHINOPATHY, AUTOSOMAL RECESSIVE Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease BESTROPHINOPATHY, AUTOSOMAL RECESSIVE from the curated CTD Gene-Disease Associations dataset.

Deafness, Autosomal Dominant 21 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Deafness, Autosomal Dominant 21 from the curated CTD Gene-Disease Associations dataset.

Inflammatory Bowel Disease 28, Autosomal Recessive Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Inflammatory Bowel Disease 28, Autosomal Recessive from the curated CTD Gene-Disease Associations dataset.

DEAFNESS, AUTOSOMAL DOMINANT 50 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease DEAFNESS, AUTOSOMAL DOMINANT 50 from the curated CTD Gene-Disease Associations dataset.

DEAFNESS, AUTOSOMAL RECESSIVE 45 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease DEAFNESS, AUTOSOMAL RECESSIVE 45 from the curated CTD Gene-Disease Associations dataset.

Deafness, Autosomal Dominant 7 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Deafness, Autosomal Dominant 7 from the curated CTD Gene-Disease Associations dataset.

Auditory Neuropathy, Autosomal Dominant, 1 Gene Set

From CTD Gene-Disease Associations

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

Neuropathy, Hereditary Sensory, with Spastic Paraplegia, Autosomal Recessive Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Neuropathy, Hereditary Sensory, with Spastic Paraplegia, Autosomal Recessive from the curated CTD Gene-Disease Associations dataset.

PARKINSON DISEASE 13, AUTOSOMAL DOMINANT, SUSCEPTIBILITY TO Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease PARKINSON DISEASE 13, AUTOSOMAL DOMINANT, SUSCEPTIBILITY TO from the curated CTD Gene-Disease Associations dataset.

Spinocerebellar ataxia, autosomal recessive 4 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Spinocerebellar ataxia, autosomal recessive 4 from the curated CTD Gene-Disease Associations dataset.

Spinocerebellar ataxia, autosomal recessive 1 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Spinocerebellar ataxia, autosomal recessive 1 from the curated CTD Gene-Disease Associations dataset.

Myosclerosis, Autosomal Recessive Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Myosclerosis, Autosomal Recessive from the curated CTD Gene-Disease Associations dataset.

Microcephaly, Primary Autosomal Recessive, 3 Gene Set

From CTD Gene-Disease Associations

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

Deafness, autosomal recessive 51 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Deafness, autosomal recessive 51 from the curated CTD Gene-Disease Associations dataset.

Microcephaly, Primary Autosomal Recessive, 1 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Microcephaly, Primary Autosomal Recessive, 1 from the curated CTD Gene-Disease Associations dataset.

Ataxia, Spastic, 1, Autosomal Dominant Gene Set

From CTD Gene-Disease Associations

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

Cataract, Autosomal Dominant, Multiple Types 1 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Cataract, Autosomal Dominant, Multiple Types 1 from the curated CTD Gene-Disease Associations dataset.

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

From CTD Gene-Disease Associations

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

Nystagmus 3, congenital, autosomal dominant Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Nystagmus 3, congenital, autosomal dominant from the curated CTD Gene-Disease Associations dataset.

ECTOPIA LENTIS 2, ISOLATED, AUTOSOMAL RECESSIVE Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease ECTOPIA LENTIS 2, ISOLATED, AUTOSOMAL RECESSIVE from the curated CTD Gene-Disease Associations dataset.

Spinocerebellar ataxia, autosomal recessive 6 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Spinocerebellar ataxia, autosomal recessive 6 from the curated CTD Gene-Disease Associations dataset.

Laterality Defects, Autosomal Dominant Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Laterality Defects, Autosomal Dominant from the curated CTD Gene-Disease Associations dataset.

Deafness, Autosomal Recessive 12 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Deafness, Autosomal Recessive 12 from the curated CTD Gene-Disease Associations dataset.

Deafness, Autosomal Recessive 68 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Deafness, Autosomal Recessive 68 from the curated CTD Gene-Disease Associations dataset.

MYOTONIA CONGENITA, AUTOSOMAL DOMINANT Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease MYOTONIA CONGENITA, AUTOSOMAL DOMINANT from the curated CTD Gene-Disease Associations dataset.

MENTAL RETARDATION, AUTOSOMAL DOMINANT 20 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease MENTAL RETARDATION, AUTOSOMAL DOMINANT 20 from the curated CTD Gene-Disease Associations dataset.

Spinocerebellar ataxia, autosomal recessive 5 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Spinocerebellar ataxia, autosomal recessive 5 from the curated CTD Gene-Disease Associations dataset.

THROMBOPHILIA DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL RECESSIVE Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease THROMBOPHILIA DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL RECESSIVE from the curated CTD Gene-Disease Associations dataset.

Deafness, Autosomal Recessive 65 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Deafness, Autosomal Recessive 65 from the curated CTD Gene-Disease Associations dataset.

Deafness, Autosomal Recessive 9 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Deafness, Autosomal Recessive 9 from the curated CTD Gene-Disease Associations dataset.

Dyskeratosis Congenita, Autosomal Recessive Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Dyskeratosis Congenita, Autosomal Recessive from the curated CTD Gene-Disease Associations dataset.

Tetra-amelia autosomal recessive Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Tetra-amelia autosomal recessive from the curated CTD Gene-Disease Associations dataset.

Deafness, Autosomal Recessive 3 Gene Set

From CTD Gene-Disease Associations

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

Mental Retardation, Autosomal Recessive 1 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Mental Retardation, Autosomal Recessive 1 from the curated CTD Gene-Disease Associations dataset.

Deafness, Autosomal Recessive 53 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Deafness, Autosomal Recessive 53 from the curated CTD Gene-Disease Associations dataset.

Spinocerebellar Ataxia, Autosomal Recessive 2 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Spinocerebellar Ataxia, Autosomal Recessive 2 from the curated CTD Gene-Disease Associations dataset.

Epidermolysis Bullosa Simplex, Autosomal Recessive Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Epidermolysis Bullosa Simplex, Autosomal Recessive from the curated CTD Gene-Disease Associations dataset.

Periodic fever, familial, autosomal dominant Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Periodic fever, familial, autosomal dominant from the curated CTD Gene-Disease Associations dataset.

SPONDYLOCOSTAL DYSOSTOSIS 3, AUTOSOMAL RECESSIVE Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease SPONDYLOCOSTAL DYSOSTOSIS 3, AUTOSOMAL RECESSIVE 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.

AGAMMAGLOBULINEMIA 4, AUTOSOMAL RECESSIVE Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease AGAMMAGLOBULINEMIA 4, AUTOSOMAL RECESSIVE from the curated CTD Gene-Disease Associations dataset.

DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT from the curated CTD Gene-Disease Associations dataset.

Myoglobinuria, Acute Recurrent, Autosomal Recessive Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Myoglobinuria, Acute Recurrent, Autosomal Recessive from the curated CTD Gene-Disease Associations dataset.

Deafness, Autosomal Dominant 59 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Deafness, Autosomal Dominant 59 from the curated CTD Gene-Disease Associations dataset.

SPONDYLOCOSTAL DYSOSTOSIS 1, AUTOSOMAL RECESSIVE Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease SPONDYLOCOSTAL DYSOSTOSIS 1, AUTOSOMAL RECESSIVE from the curated CTD Gene-Disease Associations dataset.

Deafness, Autosomal Recessive 47 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Deafness, Autosomal Recessive 47 from the curated CTD Gene-Disease Associations dataset.

Deafness, Autosomal Recessive 49 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Deafness, Autosomal Recessive 49 from the curated CTD Gene-Disease Associations dataset.

Deafness, Autosomal Dominant 52 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Deafness, Autosomal Dominant 52 from the curated CTD Gene-Disease Associations dataset.

Spinal Muscular Atrophy, Distal, Autosomal Recessive, 3 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Spinal Muscular Atrophy, Distal, Autosomal Recessive, 3 from the curated CTD Gene-Disease Associations dataset.

AGAMMAGLOBULINEMIA 6, AUTOSOMAL RECESSIVE Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease AGAMMAGLOBULINEMIA 6, AUTOSOMAL RECESSIVE from the curated CTD Gene-Disease Associations dataset.

Spastic Paraplegia 27, Autosomal Recessive Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Spastic Paraplegia 27, Autosomal Recessive from the curated CTD Gene-Disease Associations dataset.

Cataract, Congenital Nuclear, Autosomal Recessive 1 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Cataract, Congenital Nuclear, Autosomal Recessive 1 from the curated CTD Gene-Disease Associations dataset.

SPONDYLOCOSTAL DYSOSTOSIS 2, AUTOSOMAL RECESSIVE Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease SPONDYLOCOSTAL DYSOSTOSIS 2, AUTOSOMAL RECESSIVE from the curated CTD Gene-Disease Associations dataset.

CUTIS LAXA, AUTOSOMAL DOMINANT 1 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease CUTIS LAXA, AUTOSOMAL DOMINANT 1 from the curated CTD Gene-Disease Associations dataset.

CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IA Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IA from the curated CTD Gene-Disease Associations dataset.

Hypercarotenemia And Vitamin A Deficiency, Autosomal Dominant Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Hypercarotenemia And Vitamin A Deficiency, Autosomal Dominant from the curated CTD Gene-Disease Associations dataset.

Deafness, Autosomal Dominant 16 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Deafness, Autosomal Dominant 16 from the curated CTD Gene-Disease Associations dataset.

Spastic paraplegia 13, autosomal dominant Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Spastic paraplegia 13, autosomal dominant from the curated CTD Gene-Disease Associations dataset.

Deafness, Autosomal Dominant 11 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Deafness, Autosomal Dominant 11 from the curated CTD Gene-Disease Associations dataset.

Deafness, Autosomal Dominant 12 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Deafness, Autosomal Dominant 12 from the curated CTD Gene-Disease Associations dataset.

Deafness, Autosomal Dominant 13 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Deafness, Autosomal Dominant 13 from the curated CTD Gene-Disease Associations dataset.

Deafness, Autosomal Dominant 18 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Deafness, Autosomal Dominant 18 from the curated CTD Gene-Disease Associations dataset.

ECTOPIA LENTIS 1, ISOLATED, AUTOSOMAL DOMINANT Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease ECTOPIA LENTIS 1, ISOLATED, AUTOSOMAL DOMINANT from the curated CTD Gene-Disease Associations dataset.

Inclusion Body Myopathy 3, Autosomal Dominant Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Inclusion Body Myopathy 3, Autosomal Dominant from the curated CTD Gene-Disease Associations dataset.

Oculodentodigital Dysplasia, Autosomal Recessive Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Oculodentodigital Dysplasia, Autosomal Recessive from the curated CTD Gene-Disease Associations dataset.

Deafness, Autosomal Recessive 42 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Deafness, Autosomal Recessive 42 from the curated CTD Gene-Disease Associations dataset.

SPASTIC PARAPLEGIA 41, AUTOSOMAL DOMINANT Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease SPASTIC PARAPLEGIA 41, AUTOSOMAL DOMINANT from the curated CTD Gene-Disease Associations dataset.

Deafness, Autosomal Recessive 71 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Deafness, Autosomal Recessive 71 from the curated CTD Gene-Disease Associations dataset.

Deafness, autosomal recessive 55 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Deafness, autosomal recessive 55 from the curated CTD Gene-Disease Associations dataset.

HETEROTAXY, VISCERAL, 2, AUTOSOMAL Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease HETEROTAXY, VISCERAL, 2, AUTOSOMAL from the curated CTD Gene-Disease Associations dataset.

Cataract, Congenital Nuclear, Autosomal Recessive 3 Gene Set

From CTD Gene-Disease Associations

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

Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant, 5 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant, 5 from the curated CTD Gene-Disease Associations dataset.

Deafness, Autosomal Recessive 20 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Deafness, Autosomal Recessive 20 from the curated CTD Gene-Disease Associations dataset.

Deafness, Autosomal Dominant 20 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Deafness, Autosomal Dominant 20 from the curated CTD Gene-Disease Associations dataset.

Optic Atrophy, Autosomal Dominant Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Optic Atrophy, Autosomal Dominant from the curated CTD Gene-Disease Associations dataset.

Deafness, Autosomal Dominant 24 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Deafness, Autosomal Dominant 24 from the curated CTD Gene-Disease Associations dataset.

Deafness, Autosomal Recessive 23 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Deafness, Autosomal Recessive 23 from the curated CTD Gene-Disease Associations dataset.

Parkinson Disease 4, Autosomal Dominant Lewy Body Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Parkinson Disease 4, Autosomal Dominant Lewy Body from the curated CTD Gene-Disease Associations dataset.

Inclusion body myopathy autosomal recessive Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Inclusion body myopathy autosomal recessive from the curated CTD Gene-Disease Associations dataset.

Coronary Artery Disease, Autosomal Dominant, 1 Gene Set

From CTD Gene-Disease Associations

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

Deafness, Autosomal Dominant 2A Gene Set

From CTD Gene-Disease Associations

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

Night Blindness, Congenital Stationary, Autosomal Dominant 2 Gene Set

From CTD Gene-Disease Associations

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

Cataract, Congenital Nuclear, Autosomal Recessive 2 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Cataract, Congenital Nuclear, Autosomal Recessive 2 from the curated CTD Gene-Disease Associations dataset.

Deafness, Autosomal Recessive 6 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Deafness, Autosomal Recessive 6 from the curated CTD Gene-Disease Associations dataset.

Mental Retardation, Autosomal Dominant 1 Gene Set

From CTD Gene-Disease Associations

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

Night Blindness, Congenital Stationary, Autosomal Dominant 1 Gene Set

From CTD Gene-Disease Associations

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

Spastic paraplegia 19, autosomal dominant Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Spastic paraplegia 19, autosomal dominant from the curated CTD Gene-Disease Associations dataset.

Deafness, Autosomal Recessive 63 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Deafness, Autosomal Recessive 63 from the curated CTD Gene-Disease Associations dataset.

Deafness, Autosomal Recessive 66 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Deafness, Autosomal Recessive 66 from the curated CTD Gene-Disease Associations dataset.

PARKINSON DISEASE 11, AUTOSOMAL DOMINANT Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease PARKINSON DISEASE 11, AUTOSOMAL DOMINANT from the curated CTD Gene-Disease Associations dataset.

Spastic Paraplegia 18, Autosomal Recessive Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Spastic Paraplegia 18, Autosomal Recessive from the curated CTD Gene-Disease Associations dataset.

Deafness, Autosomal Recessive 7 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Deafness, Autosomal Recessive 7 from the curated CTD Gene-Disease Associations dataset.

Deafness, Autosomal Dominant 36 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Deafness, Autosomal Dominant 36 from the curated CTD Gene-Disease Associations dataset.

Parkinson Disease 7, Autosomal Recessive Early-Onset Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Parkinson Disease 7, Autosomal Recessive Early-Onset from the curated CTD Gene-Disease Associations dataset.

Neutropenia, Severe Congenital, Autosomal Recessive 3 Gene Set

From CTD Gene-Disease Associations

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

Neutropenia, Severe Congenital, Autosomal Recessive 4 Gene Set

From CTD Gene-Disease Associations

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

Deafness, Autosomal Dominant 3B Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Deafness, Autosomal Dominant 3B from the curated CTD Gene-Disease Associations dataset.

Deafness, Autosomal Dominant 3A Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Deafness, Autosomal Dominant 3A from the curated CTD Gene-Disease Associations dataset.

SPONDYLOCOSTAL DYSOSTOSIS 4, AUTOSOMAL RECESSIVE Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease SPONDYLOCOSTAL DYSOSTOSIS 4, AUTOSOMAL RECESSIVE from the curated CTD Gene-Disease Associations dataset.

Deafness, Autosomal Dominant 30 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Deafness, Autosomal Dominant 30 from the curated CTD Gene-Disease Associations dataset.

Deafness, Autosomal Dominant 31 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Deafness, Autosomal Dominant 31 from the curated CTD Gene-Disease Associations dataset.

autosomal recessive disease Gene Set

From DISEASES Curated Gene-Disease Association Evidence Scores

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

autosomal dominant disease Gene Set

From DISEASES Curated Gene-Disease Association Evidence Scores

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

autosomal genetic disease Gene Set

From DISEASES Curated Gene-Disease Association Evidence Scores

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

autosomal recessive disease Gene Set

From DISEASES Experimental Gene-Disease Association Evidence Scores

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

autosomal genetic disease Gene Set

From DISEASES Experimental Gene-Disease Association Evidence Scores

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

autosomal dominant disease Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores

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

autosomal dominant nonsyndromic deafness Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores

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

autosomal genetic disease Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores

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

autosomal recessive nonsyndromic deafness Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores

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

autosomal dominant microcephaly Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores

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

autosomal recessive disease Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores

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

chronic renal failure; kidney failure, chronic; polycystic kidney, autosomal dominant Gene Set

From GAD Gene-Disease Associations

genes associated with the disease chronic renal failure; kidney failure, chronic; polycystic kidney, autosomal dominant in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

autosomal dominant hearing loss Gene Set

From GAD Gene-Disease Associations

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

kidney failure, chronic; polycystic kidney, autosomal dominant Gene Set

From GAD Gene-Disease Associations

genes associated with the disease kidney failure, chronic; polycystic kidney, autosomal dominant in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

chronic renal failure; hypertrophy, left ventricular; kidney failure, chronic; left ventricular hypertrophy; polycystic kidney, autosomal dominant Gene Set

From GAD Gene-Disease Associations

genes associated with the disease chronic renal failure; hypertrophy, left ventricular; kidney failure, chronic; left ventricular hypertrophy; polycystic kidney, autosomal dominant in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

autosomal recessive charcot-marie-tooth disease Gene Set

From GAD Gene-Disease Associations

genes associated with the disease autosomal recessive charcot-marie-tooth disease in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

autosomal dominant macular degeneration Gene Set

From GAD Gene-Disease Associations

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

glomerulonephritis, iga; iga glomerulonephritides; polycystic kidney, autosomal dominant Gene Set

From GAD Gene-Disease Associations

genes associated with the disease glomerulonephritis, iga; iga glomerulonephritides; polycystic kidney, autosomal dominant in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

diabetes mellitus; polycystic kidney, autosomal dominant Gene Set

From GAD Gene-Disease Associations

genes associated with the disease diabetes mellitus; polycystic kidney, autosomal dominant in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

chronic renal failure; hypertension; kidney failure, chronic; polycystic kidney, autosomal dominant Gene Set

From GAD Gene-Disease Associations

genes associated with the disease chronic renal failure; hypertension; kidney failure, chronic; polycystic kidney, autosomal dominant in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

autosomal-dominant retinitis pigmentosa Gene Set

From GAD Gene-Disease Associations

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

chronic renal failure; diabetes mellitus type ii; diabetes mellitus, type 2; glomerulonephritis; kidney failure, chronic; polycystic kidney, autosomal dominant Gene Set

From GAD Gene-Disease Associations

genes associated with the disease chronic renal failure; diabetes mellitus type ii; diabetes mellitus, type 2; glomerulonephritis; kidney failure, chronic; polycystic kidney, autosomal dominant in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

cystic fibrosis; polycystic kidney, autosomal dominant Gene Set

From GAD Gene-Disease Associations

genes associated with the disease cystic fibrosis; polycystic kidney, autosomal dominant in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

autosomal dominant coral-like cataract Gene Set

From GAD Gene-Disease Associations

genes associated with the disease autosomal dominant coral-like cataract in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

hypertension; polycystic kidney, autosomal dominant Gene Set

From GAD Gene-Disease Associations

genes associated with the disease hypertension; polycystic kidney, autosomal dominant in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

optic atrophy, autosomal dominant; optic atrophy, hereditary, leber Gene Set

From GAD Gene-Disease Associations

genes associated with the disease optic atrophy, autosomal dominant; optic atrophy, hereditary, leber in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

polycystic kidney, autosomal dominant Gene Set

From GAD Gene-Disease Associations

genes associated with the disease polycystic kidney, autosomal dominant in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

autosomal dominant anhidrotic ectodermal dysplasia and t cell immunodeficiency Gene Set

From GAD Gene-Disease Associations

genes associated with the disease autosomal dominant anhidrotic ectodermal dysplasia and t cell immunodeficiency in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

optic atrophies, hereditary; optic atrophy, autosomal dominant; optic atrophy, hereditary, leber Gene Set

From GAD Gene-Disease Associations

genes associated with the disease optic atrophies, hereditary; optic atrophy, autosomal dominant; optic atrophy, hereditary, leber in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

autosomal Gene Set

From GeneRIF Biological Term Annotations

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

White matter hyperintensity volume in cerebral autosomal-dominant arteriopathy with subcortical infarcts and leukoencephalopathy Gene Set

From GWAS Catalog SNP-Phenotype Associations

genes associated with the White matter hyperintensity volume in cerebral autosomal-dominant arteriopathy with subcortical infarcts and leukoencephalopathy phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations dataset.

autosomal recessive disease Gene Set

From GWASdb SNP-Disease Associations

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

autosomal dominant disease Gene Set

From GWASdb SNP-Disease Associations

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

autosomal genetic disease Gene Set

From GWASdb SNP-Disease Associations

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

autosomal recessive inheritance Gene Set

From HPO Gene-Disease Associations

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

autosomal dominant inheritance Gene Set

From HPO Gene-Disease Associations

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

sex-limited autosomal dominant Gene Set

From HPO Gene-Disease Associations

genes associated with the sex-limited autosomal dominant phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

autosomal dominant inheritance with maternal imprinting Gene Set

From HPO Gene-Disease Associations

genes associated with the autosomal dominant inheritance with maternal imprinting phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

autosomal dominant somatic cell mutation Gene Set

From HPO Gene-Disease Associations

genes associated with the autosomal dominant somatic cell mutation phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Polycystic Kidney, Autosomal Dominant Gene Set

From HuGE Navigator Gene-Phenotype Associations

genes associated with the Polycystic Kidney, Autosomal Dominant phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset.

Polycystic Kidney, Autosomal Recessive Gene Set

From HuGE Navigator Gene-Phenotype Associations

genes associated with the Polycystic Kidney, Autosomal Recessive phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset.

Optic Atrophy, Autosomal Dominant Gene Set

From HuGE Navigator Gene-Phenotype Associations

genes associated with the Optic Atrophy, Autosomal Dominant phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset.

nemaline myopathy 6, autosomal dominant Gene Set

From OMIM Gene-Disease Associations

genes associated with the nemaline myopathy 6, autosomal dominant phenotype from the curated OMIM Gene-Disease Associations dataset.

mental retardation, autosomal recessive, 9/26 Gene Set

From OMIM Gene-Disease Associations

genes associated with the mental retardation, autosomal recessive, 9/26 phenotype from the curated OMIM Gene-Disease Associations dataset.

spastic paraplegia 8, autosomal dominant Gene Set

From OMIM Gene-Disease Associations

genes associated with the spastic paraplegia 8, autosomal dominant phenotype from the curated OMIM Gene-Disease Associations dataset.

mental retardation, autosomal dominant 19 Gene Set

From OMIM Gene-Disease Associations

genes associated with the mental retardation, autosomal dominant 19 phenotype from the curated OMIM Gene-Disease Associations dataset.

mental retardation, autosomal dominant 18 Gene Set

From OMIM Gene-Disease Associations

genes associated with the mental retardation, autosomal dominant 18 phenotype from the curated OMIM Gene-Disease Associations dataset.

mental retardation, autosomal dominant 10 Gene Set

From OMIM Gene-Disease Associations

genes associated with the mental retardation, autosomal dominant 10 phenotype from the curated OMIM Gene-Disease Associations dataset.

mental retardation, autosomal dominant 13 Gene Set

From OMIM Gene-Disease Associations

genes associated with the mental retardation, autosomal dominant 13 phenotype from the curated OMIM Gene-Disease Associations dataset.

mental retardation, autosomal dominant 12 Gene Set

From OMIM Gene-Disease Associations

genes associated with the mental retardation, autosomal dominant 12 phenotype from the curated OMIM Gene-Disease Associations dataset.

mental retardation, autosomal dominant 15 Gene Set

From OMIM Gene-Disease Associations

genes associated with the mental retardation, autosomal dominant 15 phenotype from the curated OMIM Gene-Disease Associations dataset.

mental retardation, autosomal dominant 14 Gene Set

From OMIM Gene-Disease Associations

genes associated with the mental retardation, autosomal dominant 14 phenotype from the curated OMIM Gene-Disease Associations dataset.

mental retardation, autosomal dominant 17 Gene Set

From OMIM Gene-Disease Associations

genes associated with the mental retardation, autosomal dominant 17 phenotype from the curated OMIM Gene-Disease Associations dataset.

mental retardation, autosomal dominant 16 Gene Set

From OMIM Gene-Disease Associations

genes associated with the mental retardation, autosomal dominant 16 phenotype from the curated OMIM Gene-Disease Associations dataset.

exfoliative ichthyosis, autosomal recessive, ichthyosis bullosa of siemens-like Gene Set

From OMIM Gene-Disease Associations

genes associated with the exfoliative ichthyosis, autosomal recessive, ichthyosis bullosa of siemens-like phenotype from the curated OMIM Gene-Disease Associations dataset.

spastic paraplegia 13, autosomal dominant Gene Set

From OMIM Gene-Disease Associations

genes associated with the spastic paraplegia 13, autosomal dominant phenotype from the curated OMIM Gene-Disease Associations dataset.

scid, autosomal recessive, t-negative/b-positive type Gene Set

From OMIM Gene-Disease Associations

genes associated with the scid, autosomal recessive, t-negative/b-positive type phenotype from the curated OMIM Gene-Disease Associations dataset.

mental retardation, autosomal recessive 28 Gene Set

From OMIM Gene-Disease Associations

genes associated with the mental retardation, autosomal recessive 28 phenotype from the curated OMIM Gene-Disease Associations dataset.

mental retardation, autosomal recessive 29 Gene Set

From OMIM Gene-Disease Associations

genes associated with the mental retardation, autosomal recessive 29 phenotype from the curated OMIM Gene-Disease Associations dataset.

mental retardation, autosomal recessive 23 Gene Set

From OMIM Gene-Disease Associations

genes associated with the mental retardation, autosomal recessive 23 phenotype from the curated OMIM Gene-Disease Associations dataset.

mental retardation, autosomal recessive 27 Gene Set

From OMIM Gene-Disease Associations

genes associated with the mental retardation, autosomal recessive 27 phenotype from the curated OMIM Gene-Disease Associations dataset.

mental retardation, autosomal recessive 24 Gene Set

From OMIM Gene-Disease Associations

genes associated with the mental retardation, autosomal recessive 24 phenotype from the curated OMIM Gene-Disease Associations dataset.

mental retardation, autosomal recessive 25 Gene Set

From OMIM Gene-Disease Associations

genes associated with the mental retardation, autosomal recessive 25 phenotype from the curated OMIM Gene-Disease Associations dataset.

spondylocostal dysostosis 1, autosomal recessive Gene Set

From OMIM Gene-Disease Associations

genes associated with the spondylocostal dysostosis 1, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.

spastic paraplegia 5a, autosomal recessive Gene Set

From OMIM Gene-Disease Associations

genes associated with the spastic paraplegia 5a, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.

spastic paraplegia 12, autosomal dominant Gene Set

From OMIM Gene-Disease Associations

genes associated with the spastic paraplegia 12, autosomal dominant phenotype from the curated OMIM Gene-Disease Associations dataset.

dystonia 4, torsion, autosomal dominant Gene Set

From OMIM Gene-Disease Associations

genes associated with the dystonia 4, torsion, autosomal dominant phenotype from the curated OMIM Gene-Disease Associations dataset.

macrothrombocytopenia, autosomal dominant, tubb1-related Gene Set

From OMIM Gene-Disease Associations

genes associated with the macrothrombocytopenia, autosomal dominant, tubb1-related phenotype from the curated OMIM Gene-Disease Associations dataset.

?heterotaxy, visceral, 3, autosomal Gene Set

From OMIM Gene-Disease Associations

genes associated with the ?heterotaxy, visceral, 3, autosomal phenotype from the curated OMIM Gene-Disease Associations dataset.

mental retardation, autosomal dominant 30 Gene Set

From OMIM Gene-Disease Associations

genes associated with the mental retardation, autosomal dominant 30 phenotype from the curated OMIM Gene-Disease Associations dataset.

mental retardation, autosomal dominant 9 Gene Set

From OMIM Gene-Disease Associations

genes associated with the mental retardation, autosomal dominant 9 phenotype from the curated OMIM Gene-Disease Associations dataset.

mental retardation, autosomal dominant 8 Gene Set

From OMIM Gene-Disease Associations

genes associated with the mental retardation, autosomal dominant 8 phenotype from the curated OMIM Gene-Disease Associations dataset.

mental retardation, autosomal dominant 1 Gene Set

From OMIM Gene-Disease Associations

genes associated with the mental retardation, autosomal dominant 1 phenotype from the curated OMIM Gene-Disease Associations dataset.

mental retardation, autosomal dominant 3 Gene Set

From OMIM Gene-Disease Associations

genes associated with the mental retardation, autosomal dominant 3 phenotype from the curated OMIM Gene-Disease Associations dataset.

mental retardation, autosomal dominant 2 Gene Set

From OMIM Gene-Disease Associations

genes associated with the mental retardation, autosomal dominant 2 phenotype from the curated OMIM Gene-Disease Associations dataset.

mental retardation, autosomal dominant 5 Gene Set

From OMIM Gene-Disease Associations

genes associated with the mental retardation, autosomal dominant 5 phenotype from the curated OMIM Gene-Disease Associations dataset.

mental retardation, autosomal dominant 4 Gene Set

From OMIM Gene-Disease Associations

genes associated with the mental retardation, autosomal dominant 4 phenotype from the curated OMIM Gene-Disease Associations dataset.

mental retardation, autosomal dominant 7 Gene Set

From OMIM Gene-Disease Associations

genes associated with the mental retardation, autosomal dominant 7 phenotype from the curated OMIM Gene-Disease Associations dataset.

mental retardation, autosomal dominant 6 Gene Set

From OMIM Gene-Disease Associations

genes associated with the mental retardation, autosomal dominant 6 phenotype from the curated OMIM Gene-Disease Associations dataset.

spinal muscular atrophy, distal, autosomal recessive, 4 Gene Set

From OMIM Gene-Disease Associations

genes associated with the spinal muscular atrophy, distal, autosomal recessive, 4 phenotype from the curated OMIM Gene-Disease Associations dataset.

spinal muscular atrophy, distal, autosomal recessive, 5 Gene Set

From OMIM Gene-Disease Associations

genes associated with the spinal muscular atrophy, distal, autosomal recessive, 5 phenotype from the curated OMIM Gene-Disease Associations dataset.

striatal degeneration, autosomal dominant Gene Set

From OMIM Gene-Disease Associations

genes associated with the striatal degeneration, autosomal dominant phenotype from the curated OMIM Gene-Disease Associations dataset.

deafness, autosomal recessive 74 Gene Set

From OMIM Gene-Disease Associations

genes associated with the deafness, autosomal recessive 74 phenotype from the curated OMIM Gene-Disease Associations dataset.

spondylocostal dysostosis 2, autosomal recessive Gene Set

From OMIM Gene-Disease Associations

genes associated with the spondylocostal dysostosis 2, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.

?spinocerebellar ataxia, autosomal recessive 15 Gene Set

From OMIM Gene-Disease Associations

genes associated with the ?spinocerebellar ataxia, autosomal recessive 15 phenotype from the curated OMIM Gene-Disease Associations dataset.

?spinocerebellar ataxia, autosomal recessive 17 Gene Set

From OMIM Gene-Disease Associations

genes associated with the ?spinocerebellar ataxia, autosomal recessive 17 phenotype from the curated OMIM Gene-Disease Associations dataset.

progressive external ophthalmoplegia, autosomal dominant, 3 Gene Set

From OMIM Gene-Disease Associations

genes associated with the progressive external ophthalmoplegia, autosomal dominant, 3 phenotype from the curated OMIM Gene-Disease Associations dataset.

?spastic paraplegia 72, autosomal dominant Gene Set

From OMIM Gene-Disease Associations

genes associated with the ?spastic paraplegia 72, autosomal dominant phenotype from the curated OMIM Gene-Disease Associations dataset.

deafness, autosomal recessive 18a Gene Set

From OMIM Gene-Disease Associations

genes associated with the deafness, autosomal recessive 18a phenotype from the curated OMIM Gene-Disease Associations dataset.

deafness, autosomal recessive 18b Gene Set

From OMIM Gene-Disease Associations

genes associated with the deafness, autosomal recessive 18b phenotype from the curated OMIM Gene-Disease Associations dataset.

hypocalcemia, autosomal dominant Gene Set

From OMIM Gene-Disease Associations

genes associated with the hypocalcemia, autosomal dominant phenotype from the curated OMIM Gene-Disease Associations dataset.

night blindness, congenital stationary, autosomal dominant 3 Gene Set

From OMIM Gene-Disease Associations

genes associated with the night blindness, congenital stationary, autosomal dominant 3 phenotype from the curated OMIM Gene-Disease Associations dataset.

night blindness, congenital stationary, autosomal dominant 2 Gene Set

From OMIM Gene-Disease Associations

genes associated with the night blindness, congenital stationary, autosomal dominant 2 phenotype from the curated OMIM Gene-Disease Associations dataset.

immunodeficiency 31a, mycobacteriosis, autosomal dominant Gene Set

From OMIM Gene-Disease Associations

genes associated with the immunodeficiency 31a, mycobacteriosis, autosomal dominant phenotype from the curated OMIM Gene-Disease Associations dataset.

{coronary artery disease, autosomal dominant, 2} Gene Set

From OMIM Gene-Disease Associations

genes associated with the {coronary artery disease, autosomal dominant, 2} phenotype from the curated OMIM Gene-Disease Associations dataset.

epidermolysis bullosa, nonspecific, autosomal recessive Gene Set

From OMIM Gene-Disease Associations

genes associated with the epidermolysis bullosa, nonspecific, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.

thrombophilia due to protein s deficiency, autosomal recessive Gene Set

From OMIM Gene-Disease Associations

genes associated with the thrombophilia due to protein s deficiency, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.

spastic paraplegia 29, autosomal dominant Gene Set

From OMIM Gene-Disease Associations

genes associated with the spastic paraplegia 29, autosomal dominant phenotype from the curated OMIM Gene-Disease Associations dataset.

ectodermal dysplasia 11b, hypohidrotic/hair/tooth type, autosomal recessive Gene Set

From OMIM Gene-Disease Associations

genes associated with the ectodermal dysplasia 11b, hypohidrotic/hair/tooth type, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.

deafness, autosomal dominant 22, with hypertrophic cardiomyopathy Gene Set

From OMIM Gene-Disease Associations

genes associated with the deafness, autosomal dominant 22, with hypertrophic cardiomyopathy phenotype from the curated OMIM Gene-Disease Associations dataset.

retinal degeneration, late-onset, autosomal dominant Gene Set

From OMIM Gene-Disease Associations

genes associated with the retinal degeneration, late-onset, autosomal dominant phenotype from the curated OMIM Gene-Disease Associations dataset.

{osteoporosis, early-onset, susceptibility to, autosomal dominant} Gene Set

From OMIM Gene-Disease Associations

genes associated with the {osteoporosis, early-onset, susceptibility to, autosomal dominant} phenotype from the curated OMIM Gene-Disease Associations dataset.

?microcephaly 11, primary, autosomal recessive Gene Set

From OMIM Gene-Disease Associations

genes associated with the ?microcephaly 11, primary, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.

spastic paraplegia 18, autosomal recessive Gene Set

From OMIM Gene-Disease Associations

genes associated with the spastic paraplegia 18, autosomal recessive 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.

woolly hair, autosomal dominant Gene Set

From OMIM Gene-Disease Associations

genes associated with the woolly hair, autosomal dominant phenotype from the curated OMIM Gene-Disease Associations dataset.

mental retardation, autosomal recessive 40 Gene Set

From OMIM Gene-Disease Associations

genes associated with the mental retardation, autosomal recessive 40 phenotype from the curated OMIM Gene-Disease Associations dataset.

mental retardation, autosomal recessive 44 Gene Set

From OMIM Gene-Disease Associations

genes associated with the mental retardation, autosomal recessive 44 phenotype from the curated OMIM Gene-Disease Associations dataset.

mental retardation, autosomal recessive 46 Gene Set

From OMIM Gene-Disease Associations

genes associated with the mental retardation, autosomal recessive 46 phenotype from the curated OMIM Gene-Disease Associations dataset.

thrombophilia due to protein s deficiency, autosomal dominant Gene Set

From OMIM Gene-Disease Associations

genes associated with the thrombophilia due to protein s deficiency, autosomal dominant phenotype from the curated OMIM Gene-Disease Associations dataset.

osteopetrosis, autosomal recessive 3, with renal tubular acidosis Gene Set

From OMIM Gene-Disease Associations

genes associated with the osteopetrosis, autosomal recessive 3, with renal tubular acidosis phenotype from the curated OMIM Gene-Disease Associations dataset.

hydrocephalus, nonsyndromic, autosomal recessive 2 Gene Set

From OMIM Gene-Disease Associations

genes associated with the hydrocephalus, nonsyndromic, autosomal recessive 2 phenotype from the curated OMIM Gene-Disease Associations dataset.

spastic paraplegia 32, autosomal recessive Gene Set

From OMIM Gene-Disease Associations

genes associated with the spastic paraplegia 32, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.

chronic granulomatous disease, autosomal, due to deficiency of cyba Gene Set

From OMIM Gene-Disease Associations

genes associated with the chronic granulomatous disease, autosomal, due to deficiency of cyba phenotype from the curated OMIM Gene-Disease Associations dataset.

deafness, autosomal recessive 51 Gene Set

From OMIM Gene-Disease Associations

genes associated with the deafness, autosomal recessive 51 phenotype from the curated OMIM Gene-Disease Associations dataset.

deafness, autosomal recessive 53 Gene Set

From OMIM Gene-Disease Associations

genes associated with the deafness, autosomal recessive 53 phenotype from the curated OMIM Gene-Disease Associations dataset.

deafness, autosomal recessive 55 Gene Set

From OMIM Gene-Disease Associations

genes associated with the deafness, autosomal recessive 55 phenotype from the curated OMIM Gene-Disease Associations dataset.

deafness, autosomal recessive 59 Gene Set

From OMIM Gene-Disease Associations

genes associated with the deafness, autosomal recessive 59 phenotype from the curated OMIM Gene-Disease Associations dataset.

deafness, autosomal recessive 5 Gene Set

From OMIM Gene-Disease Associations

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

microcephaly 2, primary, autosomal recessive, with or without cortical malformations Gene Set

From OMIM Gene-Disease Associations

genes associated with the microcephaly 2, primary, autosomal recessive, with or without cortical malformations phenotype from the curated OMIM Gene-Disease Associations dataset.

neuromyotonia and axonal neuropathy, autosomal recessive Gene Set

From OMIM Gene-Disease Associations

genes associated with the neuromyotonia and axonal neuropathy, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.

spastic paraplegia 53, autosomal recessive Gene Set

From OMIM Gene-Disease Associations

genes associated with the spastic paraplegia 53, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.

ectopia lentis, isolated, autosomal recessive Gene Set

From OMIM Gene-Disease Associations

genes associated with the ectopia lentis, isolated, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.

heterotaxy, visceral, 6, autosomal recessive Gene Set

From OMIM Gene-Disease Associations

genes associated with the heterotaxy, visceral, 6, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.

cataract 22, autosomal recessive Gene Set

From OMIM Gene-Disease Associations

genes associated with the cataract 22, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.

deafness, autosomal dominant 47 Gene Set

From OMIM Gene-Disease Associations

genes associated with the deafness, autosomal dominant 47 phenotype from the curated OMIM Gene-Disease Associations dataset.

microcephaly 5, primary, autosomal recessive Gene Set

From OMIM Gene-Disease Associations

genes associated with the microcephaly 5, primary, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.