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Lymphoproliferative syndrome, ebv-associated, autosomal, 1 Gene SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom OMIM Gene-Disease Associations genes associated with the lymphoproliferative syndrome 1 phenotype from the curated OMIM Gene-Disease Associations dataset. |
Autoimmune Lymphoproliferative Syndrome Gene SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Lymphoproliferative syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Lymphoproliferative Disorders Gene SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom GAD Gene-Disease Associations genes associated with the disease abnormalities, multiple; aortic aneurysm, thoracic; marfan syndrome; syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
resp distress syndrome neonatal; respiratory distress syndrome, newborn Gene SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom GAD Gene-Disease Associations genes associated with the disease abnormalities, multiple; genetic diseases, inborn; kallmann syndrome; syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
angelman syndrome; rett syndrome; seizures Gene SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom GAD Gene-Disease Associations genes associated with the disease abnormalities, multiple; heart defects, congenital; leopard syndrome; noonan syndrome; skin abnormalities in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
insulin resistance; polycystic ovarian syndrome; polycystic ovary syndrome Gene SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom GAD Gene-Disease Associations genes associated with the disease abnormalities, multiple; congenital heart defects; craniofacial abnormalities; ectodermal dysplasia; heart defects, congenital; noonan syndrome; syndrome; turner's phenotype, karyotype normal in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
inflammation; insulin resistance; polycystic ovarian syndrome; polycystic ovary syndrome Gene SetFrom 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 SetFrom 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 SetFrom GAD Gene-Disease Associations genes associated with the disease meckel-gruber syndrome; abnormalities, multiple; congenital abnormalities; polydactyly; syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
antithrombin iii deficiency; gastrointestinal hemorrhage; protein c deficiency; protein s deficiency; splenomegaly; thrombophilia; turner syndrome; venous thrombosis; xo syndrome Gene SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom OMIM Gene-Disease Associations genes associated with the microcephaly 5, primary, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset. |