Name

Specific Granule Deficiency Gene Set

From CTD Gene-Disease Associations

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

specific granule deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the specific granule deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

cerebellar purkinje cell-granule cell precursor cell signaling involved in regulation of granule cell precursor cell proliferation Gene Set

From GO Biological Process Annotations

genes participating in the cerebellar purkinje cell-granule cell precursor cell signaling involved in regulation of granule cell precursor cell proliferation biological process from the curated GO Biological Process Annotations dataset.

specific granule Gene Set

From COMPARTMENTS Curated Protein Localization Evidence Scores

proteins localized to the specific granule cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.

specific granule membrane Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores

proteins co-occuring with the specific granule membrane cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.

specific granule Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores

proteins co-occuring with the specific granule cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.

specific granule membrane Gene Set

From GO Cellular Component Annotations

proteins localized to the specific granule membrane cellular component from the curated GO Cellular Component Annotations dataset.

specific granule Gene Set

From GO Cellular Component Annotations

proteins localized to the specific granule cellular component from the curated GO Cellular Component Annotations dataset.

site-specific endodeoxyribonuclease activity, specific for altered base Gene Set

From GO Molecular Function Annotations

genes performing the site-specific endodeoxyribonuclease activity, specific for altered base molecular function from the curated GO Molecular Function Annotations dataset.

factor v deficiency; hypoprothrombinemias; protein c deficiency; protein s deficiency; pulmonary embolism; thrombophilia; venous thrombosis Gene Set

From GAD Gene-Disease Associations

genes associated with the disease factor v deficiency; hypoprothrombinemias; protein c deficiency; protein s deficiency; pulmonary embolism; thrombophilia; venous thrombosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

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

From GAD Gene-Disease Associations

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

activated protein c resistance; antithrombin iii deficiency; pregnancy complications, hematologic; protein c deficiency; protein s deficiency; puerperal disorders; pulmonary embolism; pulmonary embolisms; thrombophilia; venous thrombosis Gene Set

From GAD Gene-Disease Associations

genes associated with the disease activated protein c resistance; antithrombin iii deficiency; pregnancy complications, hematologic; protein c deficiency; protein s deficiency; puerperal disorders; pulmonary embolism; pulmonary embolisms; thrombophilia; venous thrombosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

Birbeck granule deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Birbeck granule deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

?[birbeck granule deficiency] Gene Set

From OMIM Gene-Disease Associations

genes associated with the ?[birbeck granule deficiency] phenotype from the curated OMIM Gene-Disease Associations dataset.

specific antibody deficiency Gene Set

From HPO Gene-Disease Associations

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

specific anti-polysaccharide antibody deficiency Gene Set

From HPO Gene-Disease Associations

genes associated with the specific anti-polysaccharide antibody deficiency phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Neuraminidase deficiency with beta-galactosidase deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Neuraminidase deficiency with beta-galactosidase deficiency from the curated CTD Gene-Disease Associations dataset.

MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 1;MC5DN1 MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, ATPAF2 TYPE Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 1;MC5DN1 MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, ATPAF2 TYPE from the curated CTD Gene-Disease Associations dataset.

eclampsia; pre-eclampsia; protein c deficiency; protein s deficiency; thrombophilia Gene Set

From GAD Gene-Disease Associations

genes associated with the disease eclampsia; pre-eclampsia; protein c deficiency; protein s deficiency; thrombophilia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

blood coagulation disorders, inherited; protein c deficiency; protein s deficiency; thrombophilia; venous thrombosis Gene Set

From GAD Gene-Disease Associations

genes associated with the disease blood coagulation disorders, inherited; protein c deficiency; protein s deficiency; thrombophilia; venous thrombosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

blood coagulation disorders; protein c deficiency; protein s deficiency; pulmonary embolism; pulmonary embolisms; thrombosis; venous thrombosis Gene Set

From GAD Gene-Disease Associations

genes associated with the disease blood coagulation disorders; protein c deficiency; protein s deficiency; pulmonary embolism; pulmonary embolisms; thrombosis; venous thrombosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

anemia, iron-deficiency; iron deficiency anaemia; tuberculosis, pulmonary Gene Set

From GAD Gene-Disease Associations

genes associated with the disease anemia, iron-deficiency; iron deficiency anaemia; tuberculosis, pulmonary in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

folic acid deficiency; fractures, bone; osteoporosis, postmenopausal; riboflavin deficiency Gene Set

From GAD Gene-Disease Associations

genes associated with the disease folic acid deficiency; fractures, bone; osteoporosis, postmenopausal; riboflavin deficiency in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

activated protein c resistance; blood coagulation disorders; liver diseases; protein c deficiency; protein s deficiency; thrombosis Gene Set

From GAD Gene-Disease Associations

genes associated with the disease activated protein c resistance; blood coagulation disorders; liver diseases; protein c deficiency; protein s deficiency; thrombosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

anemia, iron-deficiency; hemochromatosis; iron deficiency anaemia; iron overload Gene Set

From GAD Gene-Disease Associations

genes associated with the disease anemia, iron-deficiency; hemochromatosis; iron deficiency anaemia; iron overload in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

choline deficiency; dna damage; folic acid deficiency Gene Set

From GAD Gene-Disease Associations

genes associated with the disease choline deficiency; dna damage; folic acid deficiency in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

folic acid deficiency; pregnancy complications; prenatal exposure delayed effects; psychomotor disorders; vitamin b 12 deficiency Gene Set

From GAD Gene-Disease Associations

genes associated with the disease folic acid deficiency; pregnancy complications; prenatal exposure delayed effects; psychomotor disorders; vitamin b 12 deficiency in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

anemia, iron-deficiency; beta thalassemia; beta-thalassemia; iron deficiency anaemia Gene Set

From GAD Gene-Disease Associations

genes associated with the disease anemia, iron-deficiency; beta thalassemia; beta-thalassemia; iron deficiency anaemia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

anemia, iron-deficiency; iron deficiency anaemia Gene Set

From GAD Gene-Disease Associations

genes associated with the disease anemia, iron-deficiency; iron deficiency anaemia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

protein c deficiency; protein s deficiency; venous thrombosis Gene Set

From GAD Gene-Disease Associations

genes associated with the disease protein c deficiency; protein s deficiency; venous thrombosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

folic acid deficiency; hyperhomocysteinemia; thromboembolism; venous insufficiency; vitamin b 12 deficiency Gene Set

From GAD Gene-Disease Associations

genes associated with the disease folic acid deficiency; hyperhomocysteinemia; thromboembolism; venous insufficiency; vitamin b 12 deficiency in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

anemia, iron-deficiency; iron deficiency anaemia; iron overload Gene Set

From GAD Gene-Disease Associations

genes associated with the disease anemia, iron-deficiency; iron deficiency anaemia; iron overload in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

neoplasms; protein c deficiency; protein s deficiency; venous thromboembolism Gene Set

From GAD Gene-Disease Associations

genes associated with the disease neoplasms; protein c deficiency; protein s deficiency; venous thromboembolism in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

anemia, iron-deficiency; hemochromatosis; iron deficiency anaemia Gene Set

From GAD Gene-Disease Associations

genes associated with the disease anemia, iron-deficiency; hemochromatosis; iron deficiency anaemia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

chronic renal failure; folic acid deficiency; hyperhomocysteinemia; kidney failure, chronic; vitamin b 12 deficiency Gene Set

From GAD Gene-Disease Associations

genes associated with the disease chronic renal failure; folic acid deficiency; hyperhomocysteinemia; kidney failure, chronic; vitamin b 12 deficiency in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

Defective GSS causes Glutathione synthetase deficiency (GSS deficiency) Gene Set

From Reactome Pathways

proteins participating in the Defective GSS causes Glutathione synthetase deficiency (GSS deficiency) pathway from the Reactome Pathways dataset.

Defective CYP11B2 causes Corticosterone methyloxidase 1 deficiency (CMO-1 deficiency) Gene Set

From Reactome Pathways

proteins participating in the Defective CYP11B2 causes Corticosterone methyloxidase 1 deficiency (CMO-1 deficiency) pathway from the Reactome Pathways dataset.

Defective TPMT causes Thiopurine S-methyltransferase deficiency (TPMT deficiency) Gene Set

From Reactome Pathways

proteins participating in the Defective TPMT causes Thiopurine S-methyltransferase deficiency (TPMT deficiency) pathway from the Reactome Pathways dataset.

granule cell layer of the DG Gene Set

From Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles

genes with high or low expression in granule cell layer of the DG relative to other tissues from the Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles dataset.

Dentate gyrus, granule cell layer Gene Set

From Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles

genes with high or low expression in Dentate gyrus, granule cell layer relative to other tissues from the Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles dataset.

Main olfactory bulb, granule layer Gene Set

From Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles

genes with high or low expression in Main olfactory bulb, granule layer relative to other tissues from the Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles dataset.

chromaffin granule lumen Gene Set

From COMPARTMENTS Curated Protein Localization Evidence Scores

proteins localized to the chromaffin granule lumen cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.

cortical granule Gene Set

From COMPARTMENTS Curated Protein Localization Evidence Scores

proteins localized to the cortical granule cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.

ribonucleoprotein granule Gene Set

From COMPARTMENTS Curated Protein Localization Evidence Scores

proteins localized to the ribonucleoprotein granule cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.

glycogen granule Gene Set

From COMPARTMENTS Curated Protein Localization Evidence Scores

proteins localized to the glycogen granule cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.

cytoplasmic ribonucleoprotein granule Gene Set

From COMPARTMENTS Curated Protein Localization Evidence Scores

proteins localized to the cytoplasmic ribonucleoprotein granule cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.

platelet alpha granule membrane Gene Set

From COMPARTMENTS Curated Protein Localization Evidence Scores

proteins localized to the platelet alpha granule membrane cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.

p granule Gene Set

From COMPARTMENTS Curated Protein Localization Evidence Scores

proteins localized to the p granule cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.

secretory granule lumen Gene Set

From COMPARTMENTS Curated Protein Localization Evidence Scores

proteins localized to the secretory granule lumen cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.

platelet dense granule membrane Gene Set

From COMPARTMENTS Curated Protein Localization Evidence Scores

proteins localized to the platelet dense granule membrane cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.

azurophil granule Gene Set

From COMPARTMENTS Curated Protein Localization Evidence Scores

proteins localized to the azurophil granule cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.

platelet alpha granule lumen Gene Set

From COMPARTMENTS Curated Protein Localization Evidence Scores

proteins localized to the platelet alpha granule lumen cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.

zymogen granule Gene Set

From COMPARTMENTS Curated Protein Localization Evidence Scores

proteins localized to the zymogen granule cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.

pigment granule Gene Set

From COMPARTMENTS Curated Protein Localization Evidence Scores

proteins localized to the pigment granule cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.

secretory granule Gene Set

From COMPARTMENTS Curated Protein Localization Evidence Scores

proteins localized to the secretory granule cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.

dense core granule Gene Set

From COMPARTMENTS Curated Protein Localization Evidence Scores

proteins localized to the dense core granule cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.

mast cell granule Gene Set

From COMPARTMENTS Curated Protein Localization Evidence Scores

proteins localized to the mast cell granule cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.

cytoplasmic stress granule Gene Set

From COMPARTMENTS Curated Protein Localization Evidence Scores

proteins localized to the cytoplasmic stress granule cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.

chromaffin granule Gene Set

From COMPARTMENTS Curated Protein Localization Evidence Scores

proteins localized to the chromaffin granule cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.

azurophil granule lumen Gene Set

From COMPARTMENTS Curated Protein Localization Evidence Scores

proteins localized to the azurophil granule lumen cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.

zymogen granule membrane Gene Set

From COMPARTMENTS Curated Protein Localization Evidence Scores

proteins localized to the zymogen granule membrane cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.

dense core granule membrane Gene Set

From COMPARTMENTS Curated Protein Localization Evidence Scores

proteins localized to the dense core granule membrane cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.

nuclear stress granule Gene Set

From COMPARTMENTS Curated Protein Localization Evidence Scores

proteins localized to the nuclear stress granule cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.

tertiary granule Gene Set

From COMPARTMENTS Curated Protein Localization Evidence Scores

proteins localized to the tertiary granule cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.

tertiary granule membrane Gene Set

From COMPARTMENTS Curated Protein Localization Evidence Scores

proteins localized to the tertiary granule membrane cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.

secretory granule membrane Gene Set

From COMPARTMENTS Curated Protein Localization Evidence Scores

proteins localized to the secretory granule membrane cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.

platelet alpha granule Gene Set

From COMPARTMENTS Curated Protein Localization Evidence Scores

proteins localized to the platelet alpha granule cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.

platelet dense granule Gene Set

From COMPARTMENTS Curated Protein Localization Evidence Scores

proteins localized to the platelet dense granule cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.

neuronal ribonucleoprotein granule Gene Set

From COMPARTMENTS Curated Protein Localization Evidence Scores

proteins localized to the neuronal ribonucleoprotein granule cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.

chromaffin granule membrane Gene Set

From COMPARTMENTS Curated Protein Localization Evidence Scores

proteins localized to the chromaffin granule membrane cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.

cytolytic granule Gene Set

From COMPARTMENTS Curated Protein Localization Evidence Scores

proteins localized to the cytolytic granule cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.

cortical granule Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores

proteins co-occuring with the cortical granule cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.

ribonucleoprotein granule Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores

proteins co-occuring with the ribonucleoprotein granule cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.

glycogen granule Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores

proteins co-occuring with the glycogen granule cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.

cytoplasmic ribonucleoprotein granule Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores

proteins co-occuring with the cytoplasmic ribonucleoprotein granule cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.

platelet alpha granule membrane Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores

proteins co-occuring with the platelet alpha granule membrane cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.

p granule Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores

proteins co-occuring with the p granule cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.

yolk granule Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores

proteins co-occuring with the yolk granule cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.

secretory granule lumen Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores

proteins co-occuring with the secretory granule lumen cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.

platelet dense granule membrane Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores

proteins co-occuring with the platelet dense granule membrane cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.

azurophil granule membrane Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores

proteins co-occuring with the azurophil granule membrane cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.

azurophil granule Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores

proteins co-occuring with the azurophil granule cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.

proteasome storage granule Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores

proteins co-occuring with the proteasome storage granule cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.

zymogen granule Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores

proteins co-occuring with the zymogen granule cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.

pigment granule Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores

proteins co-occuring with the pigment granule cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.

merozoite dense granule Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores

proteins co-occuring with the merozoite dense granule cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.

secretory granule Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores

proteins co-occuring with the secretory granule cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.

dense core granule Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores

proteins co-occuring with the dense core granule cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.

mast cell granule Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores

proteins co-occuring with the mast cell granule cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.

dense core granule membrane Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores

proteins co-occuring with the dense core granule membrane cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.

pha granule Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores

proteins co-occuring with the pha granule cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.

nuclear stress granule Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores

proteins co-occuring with the nuclear stress granule cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.

cytoplasmic stress granule Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores

proteins co-occuring with the cytoplasmic stress granule cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.

zymogen granule membrane Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores

proteins co-occuring with the zymogen granule membrane cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.

tertiary granule Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores

proteins co-occuring with the tertiary granule cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.

secretory granule membrane Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores

proteins co-occuring with the secretory granule membrane cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.

platelet alpha granule Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores

proteins co-occuring with the platelet alpha granule cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.

interchromatin granule Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores

proteins co-occuring with the interchromatin granule cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.

chromaffin granule Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores

proteins co-occuring with the chromaffin granule cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.

platelet dense granule Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores

proteins co-occuring with the platelet dense granule cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.

neuronal ribonucleoprotein granule Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores

proteins co-occuring with the neuronal ribonucleoprotein granule cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.

chromaffin granule membrane Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores

proteins co-occuring with the chromaffin granule membrane cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.

cytolytic granule Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores

proteins co-occuring with the cytolytic granule cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.

granule Gene Set

From GeneRIF Biological Term Annotations

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

CSTB_KO_GDS5089_486_mouse_Cerebellum and granule neurons Gene Set

From GEO Signatures of Differentially Expressed Genes for Gene Perturbations

genes differentially expressed following the CSTB_KO_GDS5089_486_mouse_Cerebellum and granule neurons gene perturbation from the GEO Signatures of Differentially Expressed Genes for Gene Perturbations dataset.

CSTB_KO_GDS5091_23_mouse_cerebellar granule Gene Set

From GEO Signatures of Differentially Expressed Genes for Gene Perturbations

genes differentially expressed following the CSTB_KO_GDS5091_23_mouse_cerebellar granule gene perturbation from the GEO Signatures of Differentially Expressed Genes for Gene Perturbations dataset.

CSTB_KO_GSE47516_18_mouse_brain (P7 cerebellum, P30 cerebellum, cerebellar granule cells) Gene Set

From GEO Signatures of Differentially Expressed Genes for Gene Perturbations

genes differentially expressed following the CSTB_KO_GSE47516_18_mouse_brain (P7 cerebellum, P30 cerebellum, cerebellar granule cells) gene perturbation from the GEO Signatures of Differentially Expressed Genes for Gene Perturbations dataset.

CSTB_KO_GDS5089_565_mouse_cerebellum and granule neurons Gene Set

From GEO Signatures of Differentially Expressed Genes for Gene Perturbations

genes differentially expressed following the CSTB_KO_GDS5089_565_mouse_cerebellum and granule neurons gene perturbation from the GEO Signatures of Differentially Expressed Genes for Gene Perturbations dataset.

CSTB_KO_GDS5090_200_mouse_Cerebellar granule cells Gene Set

From GEO Signatures of Differentially Expressed Genes for Gene Perturbations

genes differentially expressed following the CSTB_KO_GDS5090_200_mouse_Cerebellar granule cells gene perturbation from the GEO Signatures of Differentially Expressed Genes for Gene Perturbations dataset.

regulation of cerebellar granule cell precursor proliferation Gene Set

From GO Biological Process Annotations

genes participating in the regulation of cerebellar granule cell precursor proliferation biological process from the curated GO Biological Process Annotations dataset.

secretory granule organization Gene Set

From GO Biological Process Annotations

genes participating in the secretory granule organization biological process from the curated GO Biological Process Annotations dataset.

eye pigment granule organization Gene Set

From GO Biological Process Annotations

genes participating in the eye pigment granule organization biological process from the curated GO Biological Process Annotations dataset.

endosome to pigment granule transport Gene Set

From GO Biological Process Annotations

genes participating in the endosome to pigment granule transport biological process from the curated GO Biological Process Annotations dataset.

pigment granule maturation Gene Set

From GO Biological Process Annotations

genes participating in the pigment granule maturation biological process from the curated GO Biological Process Annotations dataset.

stress granule assembly Gene Set

From GO Biological Process Annotations

genes participating in the stress granule assembly biological process from the curated GO Biological Process Annotations dataset.

negative regulation of dense core granule biogenesis Gene Set

From GO Biological Process Annotations

genes participating in the negative regulation of dense core granule biogenesis biological process from the curated GO Biological Process Annotations dataset.

secretory granule localization Gene Set

From GO Biological Process Annotations

genes participating in the secretory granule localization biological process from the curated GO Biological Process Annotations dataset.

cell proliferation in external granule layer Gene Set

From GO Biological Process Annotations

genes participating in the cell proliferation in external granule layer biological process from the curated GO Biological Process Annotations dataset.

regulation of dense core granule biogenesis Gene Set

From GO Biological Process Annotations

genes participating in the regulation of dense core granule biogenesis biological process from the curated GO Biological Process Annotations dataset.

cerebellar granule cell precursor tangential migration Gene Set

From GO Biological Process Annotations

genes participating in the cerebellar granule cell precursor tangential migration biological process from the curated GO Biological Process Annotations dataset.

maintenance of protease location in mast cell secretory granule Gene Set

From GO Biological Process Annotations

genes participating in the maintenance of protease location in mast cell secretory granule biological process from the curated GO Biological Process Annotations dataset.

pigment granule transport Gene Set

From GO Biological Process Annotations

genes participating in the pigment granule transport biological process from the curated GO Biological Process Annotations dataset.

maintenance of granzyme b location in t cell secretory granule Gene Set

From GO Biological Process Annotations

genes participating in the maintenance of granzyme b location in t cell secretory granule biological process from the curated GO Biological Process Annotations dataset.

zymogen granule exocytosis Gene Set

From GO Biological Process Annotations

genes participating in the zymogen granule exocytosis biological process from the curated GO Biological Process Annotations dataset.

dense core granule maturation Gene Set

From GO Biological Process Annotations

genes participating in the dense core granule maturation biological process from the curated GO Biological Process Annotations dataset.

mast cell secretory granule organization Gene Set

From GO Biological Process Annotations

genes participating in the mast cell secretory granule organization biological process from the curated GO Biological Process Annotations dataset.

maintenance of protein location in t cell secretory granule Gene Set

From GO Biological Process Annotations

genes participating in the maintenance of protein location in t cell secretory granule biological process from the curated GO Biological Process Annotations dataset.

t cell secretory granule organization Gene Set

From GO Biological Process Annotations

genes participating in the t cell secretory granule organization biological process from the curated GO Biological Process Annotations dataset.

negative regulation of cerebellar granule cell precursor proliferation Gene Set

From GO Biological Process Annotations

genes participating in the negative regulation of cerebellar granule cell precursor proliferation biological process from the curated GO Biological Process Annotations dataset.

p granule organization Gene Set

From GO Biological Process Annotations

genes participating in the p granule organization biological process from the curated GO Biological Process Annotations dataset.

establishment of pigment granule localization Gene Set

From GO Biological Process Annotations

genes participating in the establishment of pigment granule localization biological process from the curated GO Biological Process Annotations dataset.

maintenance of protease location in t cell secretory granule Gene Set

From GO Biological Process Annotations

genes participating in the maintenance of protease location in t cell secretory granule biological process from the curated GO Biological Process Annotations dataset.

platelet dense granule organization Gene Set

From GO Biological Process Annotations

genes participating in the platelet dense granule organization biological process from the curated GO Biological Process Annotations dataset.

cerebellar granule cell precursor proliferation Gene Set

From GO Biological Process Annotations

genes participating in the cerebellar granule cell precursor proliferation biological process from the curated GO Biological Process Annotations dataset.

stress granule disassembly Gene Set

From GO Biological Process Annotations

genes participating in the stress granule disassembly biological process from the curated GO Biological Process Annotations dataset.

radial glia guided migration of cerebellar granule cell Gene Set

From GO Biological Process Annotations

genes participating in the radial glia guided migration of cerebellar granule cell biological process from the curated GO Biological Process Annotations dataset.

smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation Gene Set

From GO Biological Process Annotations

genes participating in the smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation biological process from the curated GO Biological Process Annotations dataset.

positive regulation of cerebellar granule cell precursor proliferation Gene Set

From GO Biological Process Annotations

genes participating in the positive regulation of cerebellar granule cell precursor proliferation biological process from the curated GO Biological Process Annotations dataset.

platelet alpha granule organization Gene Set

From GO Biological Process Annotations

genes participating in the platelet alpha granule organization biological process from the curated GO Biological Process Annotations dataset.

cerebellar granule cell differentiation Gene Set

From GO Biological Process Annotations

genes participating in the cerebellar granule cell differentiation biological process from the curated GO Biological Process Annotations dataset.

pigment granule aggregation in cell center Gene Set

From GO Biological Process Annotations

genes participating in the pigment granule aggregation in cell center biological process from the curated GO Biological Process Annotations dataset.

pigment granule organization Gene Set

From GO Biological Process Annotations

genes participating in the pigment granule organization biological process from the curated GO Biological Process Annotations dataset.

maintenance of protein location in mast cell secretory granule Gene Set

From GO Biological Process Annotations

genes participating in the maintenance of protein location in mast cell secretory granule biological process from the curated GO Biological Process Annotations dataset.

golgi to secretory granule transport Gene Set

From GO Biological Process Annotations

genes participating in the golgi to secretory granule transport biological process from the curated GO Biological Process Annotations dataset.

positive regulation of dense core granule biogenesis Gene Set

From GO Biological Process Annotations

genes participating in the positive regulation of dense core granule biogenesis biological process from the curated GO Biological Process Annotations dataset.

pigment granule localization Gene Set

From GO Biological Process Annotations

genes participating in the pigment granule localization biological process from the curated GO Biological Process Annotations dataset.

chromaffin granule lumen Gene Set

From GO Cellular Component Annotations

proteins localized to the chromaffin granule lumen cellular component from the curated GO Cellular Component Annotations dataset.

cortical granule Gene Set

From GO Cellular Component Annotations

proteins localized to the cortical granule cellular component from the curated GO Cellular Component Annotations dataset.

ribonucleoprotein granule Gene Set

From GO Cellular Component Annotations

proteins localized to the ribonucleoprotein granule cellular component from the curated GO Cellular Component Annotations dataset.

glycogen granule Gene Set

From GO Cellular Component Annotations

proteins localized to the glycogen granule cellular component from the curated GO Cellular Component Annotations dataset.

platelet alpha granule lumen Gene Set

From GO Cellular Component Annotations

proteins localized to the platelet alpha granule lumen cellular component from the curated GO Cellular Component Annotations dataset.

cytoplasmic ribonucleoprotein granule Gene Set

From GO Cellular Component Annotations

proteins localized to the cytoplasmic ribonucleoprotein granule cellular component from the curated GO Cellular Component Annotations dataset.

platelet alpha granule membrane Gene Set

From GO Cellular Component Annotations

proteins localized to the platelet alpha granule membrane cellular component from the curated GO Cellular Component Annotations dataset.

p granule Gene Set

From GO Cellular Component Annotations

proteins localized to the p granule cellular component from the curated GO Cellular Component Annotations dataset.

keratohyalin granule Gene Set

From GO Cellular Component Annotations

proteins localized to the keratohyalin granule cellular component from the curated GO Cellular Component Annotations dataset.

secretory granule lumen Gene Set

From GO Cellular Component Annotations

proteins localized to the secretory granule lumen cellular component from the curated GO Cellular Component Annotations dataset.

platelet dense granule membrane Gene Set

From GO Cellular Component Annotations

proteins localized to the platelet dense granule membrane cellular component from the curated GO Cellular Component Annotations dataset.

azurophil granule membrane Gene Set

From GO Cellular Component Annotations

proteins localized to the azurophil granule membrane cellular component from the curated GO Cellular Component Annotations dataset.

azurophil granule Gene Set

From GO Cellular Component Annotations

proteins localized to the azurophil granule cellular component from the curated GO Cellular Component Annotations dataset.

zymogen granule Gene Set

From GO Cellular Component Annotations

proteins localized to the zymogen granule cellular component from the curated GO Cellular Component Annotations dataset.

pigment granule Gene Set

From GO Cellular Component Annotations

proteins localized to the pigment granule cellular component from the curated GO Cellular Component Annotations dataset.

secretory granule Gene Set

From GO Cellular Component Annotations

proteins localized to the secretory granule cellular component from the curated GO Cellular Component Annotations dataset.

dense core granule Gene Set

From GO Cellular Component Annotations

proteins localized to the dense core granule cellular component from the curated GO Cellular Component Annotations dataset.

mast cell granule Gene Set

From GO Cellular Component Annotations

proteins localized to the mast cell granule cellular component from the curated GO Cellular Component Annotations dataset.

dense core granule membrane Gene Set

From GO Cellular Component Annotations

proteins localized to the dense core granule membrane cellular component from the curated GO Cellular Component Annotations dataset.

mucin granule Gene Set

From GO Cellular Component Annotations

proteins localized to the mucin granule cellular component from the curated GO Cellular Component Annotations dataset.

cytoplasmic stress granule Gene Set

From GO Cellular Component Annotations

proteins localized to the cytoplasmic stress granule cellular component from the curated GO Cellular Component Annotations dataset.

chromaffin granule Gene Set

From GO Cellular Component Annotations

proteins localized to the chromaffin granule cellular component from the curated GO Cellular Component Annotations dataset.

azurophil granule lumen Gene Set

From GO Cellular Component Annotations

proteins localized to the azurophil granule lumen cellular component from the curated GO Cellular Component Annotations dataset.

zymogen granule membrane Gene Set

From GO Cellular Component Annotations

proteins localized to the zymogen granule membrane cellular component from the curated GO Cellular Component Annotations dataset.

nuclear stress granule Gene Set

From GO Cellular Component Annotations

proteins localized to the nuclear stress granule cellular component from the curated GO Cellular Component Annotations dataset.

tertiary granule membrane Gene Set

From GO Cellular Component Annotations

proteins localized to the tertiary granule membrane cellular component from the curated GO Cellular Component Annotations dataset.

tertiary granule Gene Set

From GO Cellular Component Annotations

proteins localized to the tertiary granule cellular component from the curated GO Cellular Component Annotations dataset.

secretory granule membrane Gene Set

From GO Cellular Component Annotations

proteins localized to the secretory granule membrane cellular component from the curated GO Cellular Component Annotations dataset.

platelet alpha granule Gene Set

From GO Cellular Component Annotations

proteins localized to the platelet alpha granule cellular component from the curated GO Cellular Component Annotations dataset.

interchromatin granule Gene Set

From GO Cellular Component Annotations

proteins localized to the interchromatin granule cellular component from the curated GO Cellular Component Annotations dataset.

platelet dense granule Gene Set

From GO Cellular Component Annotations

proteins localized to the platelet dense granule cellular component from the curated GO Cellular Component Annotations dataset.

neuronal ribonucleoprotein granule Gene Set

From GO Cellular Component Annotations

proteins localized to the neuronal ribonucleoprotein granule cellular component from the curated GO Cellular Component Annotations dataset.

chromaffin granule membrane Gene Set

From GO Cellular Component Annotations

proteins localized to the chromaffin granule membrane cellular component from the curated GO Cellular Component Annotations dataset.

cytolytic granule Gene Set

From GO Cellular Component Annotations

proteins localized to the cytolytic granule cellular component from the curated GO Cellular Component Annotations dataset.

pigment granule Gene Set

From LOCATE Curated Protein Localization Annotations

proteins localized to the pigment granule cellular component in low- or high-throughput protein localization assays from the LOCATE Curated Protein Localization Annotations dataset.

secretory granule Gene Set

From LOCATE Curated Protein Localization Annotations

proteins localized to the secretory granule cellular component in low- or high-throughput protein localization assays from the LOCATE Curated Protein Localization Annotations dataset.

abnormal pancreatic acinar cell zymogen granule morphology Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the abnormal pancreatic acinar cell zymogen granule morphology phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

abnormal olfactory bulb granule cell morphology Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the abnormal olfactory bulb granule cell morphology phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

decreased keratohyalin granule number Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the decreased keratohyalin granule number phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

abnormal platelet dense granule morphology Gene Set

From MPO Gene-Phenotype Associations

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

abnormal cerebellum external granule cell layer morphology Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the abnormal cerebellum external granule cell layer morphology phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

decreased keratohyalin granule size Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the decreased keratohyalin granule size phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

decreased cerebellar granule cell number Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the decreased cerebellar granule cell number phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

absent cerebellar granule cells Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the absent cerebellar granule cells phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

absent pancreatic acinar cell zymogen granule Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the absent pancreatic acinar cell zymogen granule phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

increased keratohyalin granule size Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the increased keratohyalin granule size phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

thin cerebellar granule layer Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the thin cerebellar granule layer phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

abnormal cerebellar granule layer morphology Gene Set

From MPO Gene-Phenotype Associations

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

abnormal hair follicle melanin granule morphology Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the abnormal hair follicle melanin granule morphology phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

abnormal hair shaft melanin granule distribution Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the abnormal hair shaft melanin granule distribution phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

decreased somatotroph secretory granule number Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the decreased somatotroph secretory granule number phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

abnormal cerebellar granule cell morphology Gene Set

From MPO Gene-Phenotype Associations

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

abnormal hair shaft melanin granule shape Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the abnormal hair shaft melanin granule shape phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

abnormal platelet dense granule number Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the abnormal platelet dense granule number phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

pancreatic acinar cell zymogen granule accumulation Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the pancreatic acinar cell zymogen granule accumulation phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

delaminated cerebellar granule layer Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the delaminated cerebellar granule layer phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

abnormal hippocampus granule cell morphology Gene Set

From MPO Gene-Phenotype Associations

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

ectopic cerebellar granule cells Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the ectopic cerebellar granule cells phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

abnormal hair follicle melanin granule distribution Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the abnormal hair follicle melanin granule distribution phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

reduced hair shaft melanin granule number Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the reduced hair shaft melanin granule number phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

abnormal keratohyalin granule morphology Gene Set

From MPO Gene-Phenotype Associations

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

abnormal cerebellar granule cell migration Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the abnormal cerebellar granule cell migration phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

abnormal hair shaft melanin granule morphology Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the abnormal hair shaft melanin granule morphology phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

abnormal hippocampus granule cell layer Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the abnormal hippocampus granule cell layer phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

abnormal platelet dense granule physiology Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the abnormal platelet dense granule physiology phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

abnormal olfactory bulb granule cell layer morphology Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the abnormal olfactory bulb granule cell layer morphology phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

abnormal choroid melanin granule morphology Gene Set

From MPO Gene-Phenotype Associations

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

absent cerebellar granule layer Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the absent cerebellar granule layer phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

abnormal cerebellar granule cell proliferation Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the abnormal cerebellar granule cell proliferation phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

thin external granule cell layer Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the thin external granule cell layer phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

abnormal retinal melanin granule morphology Gene Set

From MPO Gene-Phenotype Associations

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

cerebral granule cell Gene Set

From TISSUES Text-mining Tissue Protein Expression Evidence Scores

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

cerebellar granule cell Gene Set

From TISSUES Text-mining Tissue Protein Expression Evidence Scores

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

granule cell layer Gene Set

From TISSUES Text-mining Tissue Protein Expression Evidence Scores

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

granule cell Gene Set

From TISSUES Text-mining Tissue Protein Expression Evidence Scores

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

micropexophagy-specific membrane apparatus Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores

proteins co-occuring with the micropexophagy-specific membrane apparatus cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.

SMN complex, U7 snRNA specific Gene Set

From CORUM Protein Complexes

proteins in the SMN complex, U7 snRNA specific protein complex from the CORUM Protein Complexes dataset.

S-phase-specific E2F-p107 complex Gene Set

From CORUM Protein Complexes

proteins in the S-phase-specific E2F-p107 complex protein complex from the CORUM Protein Complexes dataset.

Acinar cell-specific C complex Gene Set

From CORUM Protein Complexes

proteins in the Acinar cell-specific C complex protein complex from the CORUM Protein Complexes dataset.

TFIID subcomplex, testis-specific Gene Set

From CORUM Protein Complexes

proteins in the TFIID subcomplex, testis-specific protein complex from the CORUM Protein Complexes dataset.

CCT complex (chaperonin containing TCP1 complex), testis specific Gene Set

From CORUM Protein Complexes

proteins in the CCT complex (chaperonin containing TCP1 complex), testis specific protein complex from the CORUM Protein Complexes dataset.

TFIID complex, B-cell specific Gene Set

From CORUM Protein Complexes

proteins in the TFIID complex, B-cell specific protein complex from the CORUM Protein Complexes dataset.

SPECIFIC LANGUAGE IMPAIRMENT 2 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease SPECIFIC LANGUAGE IMPAIRMENT 2 from the curated CTD Gene-Disease Associations dataset.

Phobia, Specific Gene Set

From CTD Gene-Disease Associations

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

SPECIFIC LANGUAGE IMPAIRMENT 3 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease SPECIFIC LANGUAGE IMPAIRMENT 3 from the curated CTD Gene-Disease Associations dataset.

Specific Language Impairment 4 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Specific Language Impairment 4 from the curated CTD Gene-Disease Associations dataset.

SPECIFIC LANGUAGE IMPAIRMENT 1 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease SPECIFIC LANGUAGE IMPAIRMENT 1 from the curated CTD Gene-Disease Associations dataset.

Lynch syndrome I (site-specific colonic cancer) Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Lynch syndrome I (site-specific colonic cancer) from the curated CTD Gene-Disease Associations dataset.

Prostate-Specific Antigen Gene Set

From dbGAP Gene-Trait Associations

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

specific developmental disorder Gene Set

From DISEASES Curated Gene-Disease Assocation Evidence Scores

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

specific developmental disorder Gene Set

From DISEASES Experimental Gene-Disease Assocation Evidence Scores

genes associated with the disease specific developmental disorder in GWAS datasets from the DISEASES Experimental Gene-Disease Assocation Evidence Scores dataset.

specific phobia Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

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

non-specific x-linked mental retardation Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

genes co-occuring with the disease non-specific x-linked mental retardation in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

specific bursitis often of occupational origin Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

genes co-occuring with the disease specific bursitis often of occupational origin in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

specific developmental disorder Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

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

atopy (total & specific ige) Gene Set

From GAD Gene-Disease Associations

genes associated with the disease atopy (total & specific ige) in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

prostate specific antigen Gene Set

From GAD Gene-Disease Associations

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

specific levels of lp(a) in plasma Gene Set

From GAD Gene-Disease Associations

genes associated with the disease specific levels of lp(a) in plasma in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

paraoxonase-1 specific activity Gene Set

From GAD Gene-Disease Associations

genes associated with the disease paraoxonase-1 specific activity in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

prostate-specific antigen Gene Set

From GAD Gene-Disease Associations

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

total serum ige. specific ige. ar Gene Set

From GAD Gene-Disease Associations

genes associated with the disease total serum ige. specific ige. ar in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

nutrient-specific food intake Gene Set

From GAD Gene-Disease Associations

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

high or low factor xiii specific activity. Gene Set

From GAD Gene-Disease Associations

genes associated with the disease high or low factor xiii specific activity. in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

prostate-specific antigen levels Gene Set

From GAD Gene-Disease Associations

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

testosterone; prostate specific antigen Gene Set

From GAD Gene-Disease Associations

genes associated with the disease testosterone; prostate specific antigen in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

prostate cancer; prostate specific antigen Gene Set

From GAD Gene-Disease Associations

genes associated with the disease prostate cancer; prostate specific antigen in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

specific Gene Set

From GeneRIF Biological Term Annotations

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

positive regulation of sequence-specific dna binding transcription factor activity Gene Set

From GO Biological Process Annotations

genes participating in the positive regulation of sequence-specific dna binding transcription factor activity biological process from the curated GO Biological Process Annotations dataset.

negative regulation of sequence-specific dna binding transcription factor activity Gene Set

From GO Biological Process Annotations

genes participating in the negative regulation of sequence-specific dna binding transcription factor activity biological process from the curated GO Biological Process Annotations dataset.

regulation of rna polymerase ii regulatory region sequence-specific dna binding Gene Set

From GO Biological Process Annotations

genes participating in the regulation of rna polymerase ii regulatory region sequence-specific dna binding biological process from the curated GO Biological Process Annotations dataset.

negative regulation of rna polymerase ii regulatory region sequence-specific dna binding Gene Set

From GO Biological Process Annotations

genes participating in the negative regulation of rna polymerase ii regulatory region sequence-specific dna binding biological process from the curated GO Biological Process Annotations dataset.

positive regulation of lys63-specific deubiquitinase activity Gene Set

From GO Biological Process Annotations

genes participating in the positive regulation of lys63-specific deubiquitinase activity biological process from the curated GO Biological Process Annotations dataset.

organ or tissue specific immune response Gene Set

From GO Biological Process Annotations

genes participating in the organ or tissue specific immune response biological process from the curated GO Biological Process Annotations dataset.

ufp-specific transcription factor mrna processing involved in endoplasmic reticulum unfolded protein response Gene Set

From GO Biological Process Annotations

genes participating in the ufp-specific transcription factor mrna processing involved in endoplasmic reticulum unfolded protein response biological process from the curated GO Biological Process Annotations dataset.

negative regulation of ubiquitin-specific protease activity Gene Set

From GO Biological Process Annotations

genes participating in the negative regulation of ubiquitin-specific protease activity biological process from the curated GO Biological Process Annotations dataset.

histone h3-k4 demethylation, trimethyl-h3-k4-specific Gene Set

From GO Biological Process Annotations

genes participating in the histone h3-k4 demethylation, trimethyl-h3-k4-specific biological process from the curated GO Biological Process Annotations dataset.

commitment of neuronal cell to specific neuron type in forebrain Gene Set

From GO Biological Process Annotations

genes participating in the commitment of neuronal cell to specific neuron type in forebrain biological process from the curated GO Biological Process Annotations dataset.

positive regulation of ubiquitin-specific protease activity Gene Set

From GO Biological Process Annotations

genes participating in the positive regulation of ubiquitin-specific protease activity biological process from the curated GO Biological Process Annotations dataset.

plus-end specific microtubule depolymerization Gene Set

From GO Biological Process Annotations

genes participating in the plus-end specific microtubule depolymerization biological process from the curated GO Biological Process Annotations dataset.

regulation of sequence-specific dna binding transcription factor activity Gene Set

From GO Biological Process Annotations

genes participating in the regulation of sequence-specific dna binding transcription factor activity biological process from the curated GO Biological Process Annotations dataset.

regulation of ubiquitin-specific protease activity Gene Set

From GO Biological Process Annotations

genes participating in the regulation of ubiquitin-specific protease activity biological process from the curated GO Biological Process Annotations dataset.

cell-type specific apoptotic process Gene Set

From GO Biological Process Annotations

genes participating in the cell-type specific apoptotic process biological process from the curated GO Biological Process Annotations dataset.

pyrimidine-specific mismatch base pair dna n-glycosylase activity Gene Set

From GO Molecular Function Annotations

genes performing the pyrimidine-specific mismatch base pair dna n-glycosylase activity molecular function from the curated GO Molecular Function Annotations dataset.

ubiquitin-specific protease binding Gene Set

From GO Molecular Function Annotations

genes performing the ubiquitin-specific protease binding molecular function from the curated GO Molecular Function Annotations dataset.

substrate-specific transporter activity Gene Set

From GO Molecular Function Annotations

genes performing the substrate-specific transporter activity molecular function from the curated GO Molecular Function Annotations dataset.

histone kinase activity (h3-s10 specific) Gene Set

From GO Molecular Function Annotations

genes performing the histone kinase activity (h3-s10 specific) molecular function from the curated GO Molecular Function Annotations dataset.

double-stranded rna-specific ribonuclease activity Gene Set

From GO Molecular Function Annotations

genes performing the double-stranded rna-specific ribonuclease activity molecular function from the curated GO Molecular Function Annotations dataset.

histone demethylase activity (h3-r2 specific) Gene Set

From GO Molecular Function Annotations

genes performing the histone demethylase activity (h3-r2 specific) molecular function from the curated GO Molecular Function Annotations dataset.

transcription termination site sequence-specific dna binding Gene Set

From GO Molecular Function Annotations

genes performing the transcription termination site sequence-specific dna binding molecular function from the curated GO Molecular Function Annotations dataset.

nad(p)+ transhydrogenase (ab-specific) activity Gene Set

From GO Molecular Function Annotations

genes performing the nad(p)+ transhydrogenase (ab-specific) activity molecular function from the curated GO Molecular Function Annotations dataset.

sequence-specific dna binding transcription factor activity Gene Set

From GO Molecular Function Annotations

genes performing the sequence-specific dna binding transcription factor activity molecular function from the curated GO Molecular Function Annotations dataset.

histone kinase activity (h3-y41 specific) Gene Set

From GO Molecular Function Annotations

genes performing the histone kinase activity (h3-y41 specific) molecular function from the curated GO Molecular Function Annotations dataset.

histone methyltransferase activity (h3-k79 specific) Gene Set

From GO Molecular Function Annotations

genes performing the histone methyltransferase activity (h3-k79 specific) molecular function from the curated GO Molecular Function Annotations dataset.

ligand-activated sequence-specific dna binding rna polymerase ii transcription factor activity Gene Set

From GO Molecular Function Annotations

genes performing the ligand-activated sequence-specific dna binding rna polymerase ii transcription factor activity molecular function from the curated GO Molecular Function Annotations dataset.

histone demethylase activity (h4-r3 specific) Gene Set

From GO Molecular Function Annotations

genes performing the histone demethylase activity (h4-r3 specific) molecular function from the curated GO Molecular Function Annotations dataset.

rna polymerase ii sequence-specific dna binding transcription factor binding Gene Set

From GO Molecular Function Annotations

genes performing the rna polymerase ii sequence-specific dna binding transcription factor binding molecular function from the curated GO Molecular Function Annotations dataset.

rna polymerase i core element sequence-specific dna binding transcription factor recruiting transcription factor activity Gene Set

From GO Molecular Function Annotations

genes performing the rna polymerase i core element sequence-specific dna binding transcription factor recruiting transcription factor activity molecular function from the curated GO Molecular Function Annotations dataset.

rna polymerase i core element sequence-specific dna binding transcription factor activity Gene Set

From GO Molecular Function Annotations

genes performing the rna polymerase i core element sequence-specific dna binding transcription factor activity molecular function from the curated GO Molecular Function Annotations dataset.

transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity Gene Set

From GO Molecular Function Annotations

genes performing the transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity molecular function from the curated GO Molecular Function Annotations dataset.

transcription regulatory region sequence-specific dna binding Gene Set

From GO Molecular Function Annotations

genes performing the transcription regulatory region sequence-specific dna binding molecular function from the curated GO Molecular Function Annotations dataset.

histone methyltransferase activity (h3-r2 specific) Gene Set

From GO Molecular Function Annotations

genes performing the histone methyltransferase activity (h3-r2 specific) molecular function from the curated GO Molecular Function Annotations dataset.

rna polymerase ii core promoter sequence-specific dna binding transcription factor activity Gene Set

From GO Molecular Function Annotations

genes performing the rna polymerase ii core promoter sequence-specific dna binding transcription factor activity molecular function from the curated GO Molecular Function Annotations dataset.

hla-a specific inhibitory mhc class i receptor activity Gene Set

From GO Molecular Function Annotations

genes performing the hla-a specific inhibitory mhc class i receptor activity molecular function from the curated GO Molecular Function Annotations dataset.

histone methyltransferase activity (h3-r17 specific) Gene Set

From GO Molecular Function Annotations

genes performing the histone methyltransferase activity (h3-r17 specific) molecular function from the curated GO Molecular Function Annotations dataset.

rna polymerase ii regulatory region sequence-specific dna binding Gene Set

From GO Molecular Function Annotations

genes performing the rna polymerase ii regulatory region sequence-specific dna binding molecular function from the curated GO Molecular Function Annotations dataset.

rna polymerase ii core promoter proximal region sequence-specific dna binding transcription factor activity Gene Set

From GO Molecular Function Annotations

genes performing the rna polymerase ii core promoter proximal region sequence-specific dna binding transcription factor activity molecular function from the curated GO Molecular Function Annotations dataset.

trna-specific adenosine deaminase activity Gene Set

From GO Molecular Function Annotations

genes performing the trna-specific adenosine deaminase activity molecular function from the curated GO Molecular Function Annotations dataset.

rna polymerase ii transcription regulatory region sequence-specific dna binding transcription factor activity involved in negative regulation of transcription Gene Set

From GO Molecular Function Annotations

genes performing the rna polymerase ii transcription regulatory region sequence-specific dna binding transcription factor activity involved in negative regulation of transcription molecular function from the curated GO Molecular Function Annotations dataset.

intronic transcription regulatory region sequence-specific dna binding Gene Set

From GO Molecular Function Annotations

genes performing the intronic transcription regulatory region sequence-specific dna binding molecular function from the curated GO Molecular Function Annotations dataset.

enoyl-[acyl-carrier-protein] reductase (nadph, a-specific) activity Gene Set

From GO Molecular Function Annotations

genes performing the enoyl-[acyl-carrier-protein] reductase (nadph, a-specific) activity molecular function from the curated GO Molecular Function Annotations dataset.

rna polymerase ii transcription regulatory region sequence-specific dna binding transcription factor activity involved in positive regulation of transcription Gene Set

From GO Molecular Function Annotations

genes performing the rna polymerase ii transcription regulatory region sequence-specific dna binding transcription factor activity involved in positive regulation of transcription molecular function from the curated GO Molecular Function Annotations dataset.

histone demethylase activity (h3-k27 specific) Gene Set

From GO Molecular Function Annotations

genes performing the histone demethylase activity (h3-k27 specific) molecular function from the curated GO Molecular Function Annotations dataset.

sumo-specific protease activity Gene Set

From GO Molecular Function Annotations

genes performing the sumo-specific protease activity molecular function from the curated GO Molecular Function Annotations dataset.

poly(a)-specific ribonuclease activity Gene Set

From GO Molecular Function Annotations

genes performing the poly(a)-specific ribonuclease activity molecular function from the curated GO Molecular Function Annotations dataset.

histone demethylase activity (h3-trimethyl-k4 specific) Gene Set

From GO Molecular Function Annotations

genes performing the histone demethylase activity (h3-trimethyl-k4 specific) molecular function from the curated GO Molecular Function Annotations dataset.

n-acylphosphatidylethanolamine-specific phospholipase d activity Gene Set

From GO Molecular Function Annotations

genes performing the n-acylphosphatidylethanolamine-specific phospholipase d activity molecular function from the curated GO Molecular Function Annotations dataset.

hla-b specific inhibitory mhc class i receptor activity Gene Set

From GO Molecular Function Annotations

genes performing the hla-b specific inhibitory mhc class i receptor activity molecular function from the curated GO Molecular Function Annotations dataset.

histone deacetylase activity (h4-k16 specific) Gene Set

From GO Molecular Function Annotations

genes performing the histone deacetylase activity (h4-k16 specific) molecular function from the curated GO Molecular Function Annotations dataset.

rna polymerase i regulatory region sequence-specific dna binding Gene Set

From GO Molecular Function Annotations

genes performing the rna polymerase i regulatory region sequence-specific dna binding molecular function from the curated GO Molecular Function Annotations dataset.

histone kinase activity (h2a-t120 specific) Gene Set

From GO Molecular Function Annotations

genes performing the histone kinase activity (h2a-t120 specific) molecular function from the curated GO Molecular Function Annotations dataset.

histone kinase activity (h3-t3 specific) Gene Set

From GO Molecular Function Annotations

genes performing the histone kinase activity (h3-t3 specific) molecular function from the curated GO Molecular Function Annotations dataset.

rna polymerase ii core promoter proximal region sequence-specific dna binding transcription factor activity involved in positive regulation of transcription Gene Set

From GO Molecular Function Annotations

genes performing the rna polymerase ii core promoter proximal region sequence-specific dna binding transcription factor activity involved in positive regulation of transcription molecular function from the curated GO Molecular Function Annotations dataset.

nad-dependent histone deacetylase activity (h3-k14 specific) Gene Set

From GO Molecular Function Annotations

genes performing the nad-dependent histone deacetylase activity (h3-k14 specific) molecular function from the curated GO Molecular Function Annotations dataset.

rna polymerase ii core promoter sequence-specific dna binding transcription factor activity involved in preinitiation complex assembly Gene Set

From GO Molecular Function Annotations

genes performing the rna polymerase ii core promoter sequence-specific dna binding transcription factor activity involved in preinitiation complex assembly molecular function from the curated GO Molecular Function Annotations dataset.

core promoter sequence-specific dna binding Gene Set

From GO Molecular Function Annotations

genes performing the core promoter sequence-specific dna binding molecular function from the curated GO Molecular Function Annotations dataset.

sequence-specific transcription regulatory region dna binding rna polymerase ii transcription factor recruiting transcription factor activity Gene Set

From GO Molecular Function Annotations

genes performing the sequence-specific transcription regulatory region dna binding rna polymerase ii transcription factor recruiting transcription factor activity molecular function from the curated GO Molecular Function Annotations dataset.

histone methyltransferase activity (h4-r3 specific) Gene Set

From GO Molecular Function Annotations

genes performing the histone methyltransferase activity (h4-r3 specific) molecular function from the curated GO Molecular Function Annotations dataset.

histone methyltransferase activity (h3-k36 specific) Gene Set

From GO Molecular Function Annotations

genes performing the histone methyltransferase activity (h3-k36 specific) molecular function from the curated GO Molecular Function Annotations dataset.

ubiquitin-like protein-specific isopeptidase activity Gene Set

From GO Molecular Function Annotations

genes performing the ubiquitin-like protein-specific isopeptidase activity molecular function from the curated GO Molecular Function Annotations dataset.

isg15-specific protease activity Gene Set

From GO Molecular Function Annotations

genes performing the isg15-specific protease activity molecular function from the curated GO Molecular Function Annotations dataset.

histone kinase activity (h3-t11 specific) Gene Set

From GO Molecular Function Annotations

genes performing the histone kinase activity (h3-t11 specific) molecular function from the curated GO Molecular Function Annotations dataset.

adp-specific glucokinase activity Gene Set

From GO Molecular Function Annotations

genes performing the adp-specific glucokinase activity molecular function from the curated GO Molecular Function Annotations dataset.

sequence-specific dna binding transcription factor recruiting transcription factor activity Gene Set

From GO Molecular Function Annotations

genes performing the sequence-specific dna binding transcription factor recruiting transcription factor activity molecular function from the curated GO Molecular Function Annotations dataset.

histone acetyltransferase activity (h4-k5 specific) Gene Set

From GO Molecular Function Annotations

genes performing the histone acetyltransferase activity (h4-k5 specific) molecular function from the curated GO Molecular Function Annotations dataset.

rna polymerase i core element sequence-specific dna binding Gene Set

From GO Molecular Function Annotations

genes performing the rna polymerase i core element sequence-specific dna binding molecular function from the curated GO Molecular Function Annotations dataset.

hla-a specific activating mhc class i receptor activity Gene Set

From GO Molecular Function Annotations

genes performing the hla-a specific activating mhc class i receptor activity molecular function from the curated GO Molecular Function Annotations dataset.

nedd8-specific protease activity Gene Set

From GO Molecular Function Annotations

genes performing the nedd8-specific protease activity molecular function from the curated GO Molecular Function Annotations dataset.

histone methyltransferase activity (h3-k27 specific) Gene Set

From GO Molecular Function Annotations

genes performing the histone methyltransferase activity (h3-k27 specific) molecular function from the curated GO Molecular Function Annotations dataset.

substrate-specific transmembrane transporter activity Gene Set

From GO Molecular Function Annotations

genes performing the substrate-specific transmembrane transporter activity molecular function from the curated GO Molecular Function Annotations dataset.

rna polymerase ii core promoter sequence-specific dna binding Gene Set

From GO Molecular Function Annotations

genes performing the rna polymerase ii core promoter sequence-specific dna binding molecular function from the curated GO Molecular Function Annotations dataset.

sequence-specific dna binding rna polymerase ii transcription factor activity Gene Set

From GO Molecular Function Annotations

genes performing the sequence-specific dna binding rna polymerase ii transcription factor activity molecular function from the curated GO Molecular Function Annotations dataset.

rna polymerase ii distal enhancer sequence-specific dna binding transcription factor activity involved in positive regulation of transcription Gene Set

From GO Molecular Function Annotations

genes performing the rna polymerase ii distal enhancer sequence-specific dna binding transcription factor activity involved in positive regulation of transcription molecular function from the curated GO Molecular Function Annotations dataset.

histone demethylase activity (h4-k20 specific) Gene Set

From GO Molecular Function Annotations

genes performing the histone demethylase activity (h4-k20 specific) molecular function from the curated GO Molecular Function Annotations dataset.

ubiquitin-specific protease activity Gene Set

From GO Molecular Function Annotations

genes performing the ubiquitin-specific protease activity molecular function from the curated GO Molecular Function Annotations dataset.

sequence-specific dna binding rna polymerase recruiting transcription factor activity Gene Set

From GO Molecular Function Annotations

genes performing the sequence-specific dna binding rna polymerase recruiting transcription factor activity molecular function from the curated GO Molecular Function Annotations dataset.

rna polymerase ii distal enhancer sequence-specific dna binding transcription factor activity Gene Set

From GO Molecular Function Annotations

genes performing the rna polymerase ii distal enhancer sequence-specific dna binding transcription factor activity molecular function from the curated GO Molecular Function Annotations dataset.

trna-specific ribonuclease activity Gene Set

From GO Molecular Function Annotations

genes performing the trna-specific ribonuclease activity molecular function from the curated GO Molecular Function Annotations dataset.

rna polymerase ii core promoter proximal region sequence-specific dna binding Gene Set

From GO Molecular Function Annotations

genes performing the rna polymerase ii core promoter proximal region sequence-specific dna binding molecular function from the curated GO Molecular Function Annotations dataset.

purine-specific nucleoside:sodium symporter activity Gene Set

From GO Molecular Function Annotations

genes performing the purine-specific nucleoside:sodium symporter activity molecular function from the curated GO Molecular Function Annotations dataset.

nad-dependent histone deacetylase activity (h4-k16 specific) Gene Set

From GO Molecular Function Annotations

genes performing the nad-dependent histone deacetylase activity (h4-k16 specific) molecular function from the curated GO Molecular Function Annotations dataset.

nad-dependent histone deacetylase activity (h3-k9 specific) Gene Set

From GO Molecular Function Annotations

genes performing the nad-dependent histone deacetylase activity (h3-k9 specific) molecular function from the curated GO Molecular Function Annotations dataset.

sequence-specific dna binding Gene Set

From GO Molecular Function Annotations

genes performing the sequence-specific dna binding molecular function from the curated GO Molecular Function Annotations dataset.

histone methyltransferase activity (h3-k4 specific) Gene Set

From GO Molecular Function Annotations

genes performing the histone methyltransferase activity (h3-k4 specific) molecular function from the curated GO Molecular Function Annotations dataset.

histone demethylase activity (h3-monomethyl-k4 specific) Gene Set

From GO Molecular Function Annotations

genes performing the histone demethylase activity (h3-monomethyl-k4 specific) molecular function from the curated GO Molecular Function Annotations dataset.

androsterone dehydrogenase (b-specific) activity Gene Set

From GO Molecular Function Annotations

genes performing the androsterone dehydrogenase (b-specific) activity molecular function from the curated GO Molecular Function Annotations dataset.

enoyl-[acyl-carrier-protein] reductase (nadph, b-specific) activity Gene Set

From GO Molecular Function Annotations

genes performing the enoyl-[acyl-carrier-protein] reductase (nadph, b-specific) activity molecular function from the curated GO Molecular Function Annotations dataset.

rna polymerase ii distal enhancer sequence-specific dna binding Gene Set

From GO Molecular Function Annotations

genes performing the rna polymerase ii distal enhancer sequence-specific dna binding molecular function from the curated GO Molecular Function Annotations dataset.

rna polymerase ii core promoter proximal region sequence-specific dna binding transcription factor activity involved in negative regulation of transcription Gene Set

From GO Molecular Function Annotations

genes performing the rna polymerase ii core promoter proximal region sequence-specific dna binding transcription factor activity involved in negative regulation of transcription molecular function from the curated GO Molecular Function Annotations dataset.

histone demethylase activity (h3-k4 specific) Gene Set

From GO Molecular Function Annotations

genes performing the histone demethylase activity (h3-k4 specific) molecular function from the curated GO Molecular Function Annotations dataset.

rna polymerase ii intronic transcription regulatory region sequence-specific dna binding Gene Set

From GO Molecular Function Annotations

genes performing the rna polymerase ii intronic transcription regulatory region sequence-specific dna binding molecular function from the curated GO Molecular Function Annotations dataset.

lys63-specific deubiquitinase activity Gene Set

From GO Molecular Function Annotations

genes performing the lys63-specific deubiquitinase activity molecular function from the curated GO Molecular Function Annotations dataset.

sumo-specific isopeptidase activity Gene Set

From GO Molecular Function Annotations

genes performing the sumo-specific isopeptidase activity molecular function from the curated GO Molecular Function Annotations dataset.

core promoter proximal region sequence-specific dna binding Gene Set

From GO Molecular Function Annotations

genes performing the core promoter proximal region sequence-specific dna binding molecular function from the curated GO Molecular Function Annotations dataset.

histone demethylase activity (h3-k9 specific) Gene Set

From GO Molecular Function Annotations

genes performing the histone demethylase activity (h3-k9 specific) molecular function from the curated GO Molecular Function Annotations dataset.

nad(p)+ transhydrogenase (b-specific) activity Gene Set

From GO Molecular Function Annotations

genes performing the nad(p)+ transhydrogenase (b-specific) activity molecular function from the curated GO Molecular Function Annotations dataset.

histone deacetylase activity (h3-k14 specific) Gene Set

From GO Molecular Function Annotations

genes performing the histone deacetylase activity (h3-k14 specific) molecular function from the curated GO Molecular Function Annotations dataset.

pyrimidine- and adenine-specific:sodium symporter activity Gene Set

From GO Molecular Function Annotations

genes performing the pyrimidine- and adenine-specific:sodium symporter activity molecular function from the curated GO Molecular Function Annotations dataset.

direct ligand regulated sequence-specific dna binding transcription factor activity Gene Set

From GO Molecular Function Annotations

genes performing the direct ligand regulated sequence-specific dna binding transcription factor activity molecular function from the curated GO Molecular Function Annotations dataset.

histone demethylase activity (h3-dimethyl-k4 specific) Gene Set

From GO Molecular Function Annotations

genes performing the histone demethylase activity (h3-dimethyl-k4 specific) molecular function from the curated GO Molecular Function Annotations dataset.

histone kinase activity (h3-t6 specific) Gene Set

From GO Molecular Function Annotations

genes performing the histone kinase activity (h3-t6 specific) molecular function from the curated GO Molecular Function Annotations dataset.

enhancer sequence-specific dna binding Gene Set

From GO Molecular Function Annotations

genes performing the enhancer sequence-specific dna binding molecular function from the curated GO Molecular Function Annotations dataset.

histone acetyltransferase activity (h4-k12 specific) Gene Set

From GO Molecular Function Annotations

genes performing the histone acetyltransferase activity (h4-k12 specific) molecular function from the curated GO Molecular Function Annotations dataset.

translation release factor activity, codon specific Gene Set

From GO Molecular Function Annotations

genes performing the translation release factor activity, codon specific molecular function from the curated GO Molecular Function Annotations dataset.

purine-specific mismatch base pair dna n-glycosylase activity Gene Set

From GO Molecular Function Annotations

genes performing the purine-specific mismatch base pair dna n-glycosylase activity molecular function from the curated GO Molecular Function Annotations dataset.

rna polymerase ii distal enhancer sequence-specific dna binding transcription factor activity involved in negative regulation of transcription Gene Set

From GO Molecular Function Annotations

genes performing the rna polymerase ii distal enhancer sequence-specific dna binding transcription factor activity involved in negative regulation of transcription molecular function from the curated GO Molecular Function Annotations dataset.

sequence-specific dna binding rna polymerase i transcription factor activity Gene Set

From GO Molecular Function Annotations

genes performing the sequence-specific dna binding rna polymerase i transcription factor activity molecular function from the curated GO Molecular Function Annotations dataset.

histone methyltransferase activity (h3-k9 specific) Gene Set

From GO Molecular Function Annotations

genes performing the histone methyltransferase activity (h3-k9 specific) molecular function from the curated GO Molecular Function Annotations dataset.

ubiquitin-like protein-specific protease activity Gene Set

From GO Molecular Function Annotations

genes performing the ubiquitin-like protein-specific protease activity molecular function from the curated GO Molecular Function Annotations dataset.

protein domain specific binding Gene Set

From GO Molecular Function Annotations

genes performing the protein domain specific binding molecular function from the curated GO Molecular Function Annotations dataset.

histone demethylase activity (h3-k36 specific) Gene Set

From GO Molecular Function Annotations

genes performing the histone demethylase activity (h3-k36 specific) molecular function from the curated GO Molecular Function Annotations dataset.

substrate-specific channel activity Gene Set

From GO Molecular Function Annotations

genes performing the substrate-specific channel activity molecular function from the curated GO Molecular Function Annotations dataset.

histone methyltransferase activity (h4-k20 specific) Gene Set

From GO Molecular Function Annotations

genes performing the histone methyltransferase activity (h4-k20 specific) molecular function from the curated GO Molecular Function Annotations dataset.

histone deacetylase activity (h3-k9 specific) Gene Set

From GO Molecular Function Annotations

genes performing the histone deacetylase activity (h3-k9 specific) molecular function from the curated GO Molecular Function Annotations dataset.

lys48-specific deubiquitinase activity Gene Set

From GO Molecular Function Annotations

genes performing the lys48-specific deubiquitinase activity molecular function from the curated GO Molecular Function Annotations dataset.

histone methyltransferase activity (h2a-r3 specific) Gene Set

From GO Molecular Function Annotations

genes performing the histone methyltransferase activity (h2a-r3 specific) molecular function from the curated GO Molecular Function Annotations dataset.

histone acetyltransferase activity (h4-k8 specific) Gene Set

From GO Molecular Function Annotations

genes performing the histone acetyltransferase activity (h4-k8 specific) molecular function from the curated GO Molecular Function Annotations dataset.

estrogen-activated sequence-specific dna binding rna polymerase ii transcription factor activity Gene Set

From GO Molecular Function Annotations

genes performing the estrogen-activated sequence-specific dna binding rna polymerase ii transcription factor activity molecular function from the curated GO Molecular Function Annotations dataset.

structure-specific dna binding Gene Set

From GO Molecular Function Annotations

genes performing the structure-specific dna binding molecular function from the curated GO Molecular Function Annotations dataset.

nad-dependent histone deacetylase activity (h3-k18 specific) Gene Set

From GO Molecular Function Annotations

genes performing the nad-dependent histone deacetylase activity (h3-k18 specific) molecular function from the curated GO Molecular Function Annotations dataset.

histone acetyltransferase activity (h4-k16 specific) Gene Set

From GO Molecular Function Annotations

genes performing the histone acetyltransferase activity (h4-k16 specific) molecular function from the curated GO Molecular Function Annotations dataset.

IgE levels in asthmatics (D.f. specific) Gene Set

From GWAS Catalog SNP-Phenotype Associations

genes associated with the IgE levels in asthmatics (D.f. specific) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations dataset.

Serum prostate-specific antigen levels Gene Set

From GWAS Catalog SNP-Phenotype Associations

genes associated with the Serum prostate-specific antigen levels phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations dataset.

Prostate-specific antigen levels Gene Set

From GWAS Catalog SNP-Phenotype Associations

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

specific developmental disorder Gene Set

From GWASdb SNP-Disease Associations

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

specific learning disability Gene Set

From GWASdb SNP-Phenotype Associations

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

absent neutrophil specific granules Gene Set

From HPO Gene-Disease Associations

genes associated with the absent neutrophil specific granules phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

specific learning disability Gene Set

From HPO Gene-Disease Associations

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

absent specific antibody response Gene Set

From HPO Gene-Disease Associations

genes associated with the absent specific antibody response phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

elevated tissue non-specific alkaline phosphatase Gene Set

From HPO Gene-Disease Associations

genes associated with the elevated tissue non-specific alkaline phosphatase phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Glutaminyl-tRNA synthetase, class Ib, non-specific RNA-binding domain 2 Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Glutaminyl-tRNA synthetase, class Ib, non-specific RNA-binding domain 2 protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Lysine-specific demethylase 6B Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Lysine-specific demethylase 6B protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Testis-specific gene 13 protein Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Testis-specific gene 13 protein protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Meiosis-specific nuclear structural protein 1 Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Meiosis-specific nuclear structural protein 1 protein domain from the InterPro Predicted Protein Domain Annotations dataset.

tRNA-specific 2-thiouridylase Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the tRNA-specific 2-thiouridylase protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Purine nucleoside phosphorylase I, inosine/guanosine-specific Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Purine nucleoside phosphorylase I, inosine/guanosine-specific protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Caldesmon/lymphocyte specific protein Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Caldesmon/lymphocyte specific protein protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Flap structure-specific endonuclease Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Flap structure-specific endonuclease protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Testis-specific TEX28 Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Testis-specific TEX28 protein domain from the InterPro Predicted Protein Domain Annotations dataset.

GPCR, family 2, brain-specific angiogenesis inhibitor Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the GPCR, family 2, brain-specific angiogenesis inhibitor protein domain from the InterPro Predicted Protein Domain Annotations dataset.

TGF beta-induced protein bIGH3/osteoblast-specific factor 2 Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the TGF beta-induced protein bIGH3/osteoblast-specific factor 2 protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Neural retina-specific leucine zipper protein Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Neural retina-specific leucine zipper protein protein domain from the InterPro Predicted Protein Domain Annotations dataset.

C1GALT1-specific chaperone 1 Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the C1GALT1-specific chaperone 1 protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Retinal-specific ATP-binding cassette transporter Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Retinal-specific ATP-binding cassette transporter protein domain from the InterPro Predicted Protein Domain Annotations dataset.

POU-specific Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the POU-specific protein domain from the InterPro Predicted Protein Domain Annotations dataset.

M-phase-specific PLK1-interacting protein-like, vertebrate Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the M-phase-specific PLK1-interacting protein-like, vertebrate protein domain from the InterPro Predicted Protein Domain Annotations dataset.

SUMO-specific isopeptidase USPL1 Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the SUMO-specific isopeptidase USPL1 protein domain from the InterPro Predicted Protein Domain Annotations dataset.

D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain conserved site 1 Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain conserved site 1 protein domain from the InterPro Predicted Protein Domain Annotations dataset.

RNA polymerase I, Rpa2 specific Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the RNA polymerase I, Rpa2 specific protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Ubiquitin specific protease, conserved site Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Ubiquitin specific protease, conserved site protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Histone lysine-specific demethylase Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Histone lysine-specific demethylase protein domain from the InterPro Predicted Protein Domain Annotations dataset.

M-phase-specific PLK1-interacting protein-like Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the M-phase-specific PLK1-interacting protein-like protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Dual specificity testis-specific protein kinase 1 Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Dual specificity testis-specific protein kinase 1 protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Peroxisomal testis-specific protein 1 Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Peroxisomal testis-specific protein 1 protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Peptidase C19, ubiquitin-specific peptidase, DUSP domain Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Peptidase C19, ubiquitin-specific peptidase, DUSP domain protein domain from the InterPro Predicted Protein Domain Annotations dataset.

RNA polymerase I specific transcription initiation factor RRN3 Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the RNA polymerase I specific transcription initiation factor RRN3 protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Structure-specific recognition protein Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Structure-specific recognition protein protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Dendritic cell-specific transmembrane protein-like Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Dendritic cell-specific transmembrane protein-like protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Tubulin-specific chaperone C Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Tubulin-specific chaperone C protein domain from the InterPro Predicted Protein Domain Annotations dataset.

D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain protein domain from the InterPro Predicted Protein Domain Annotations dataset.

DNA/RNA non-specific endonuclease, active site Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the DNA/RNA non-specific endonuclease, active site protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Cap-specific mRNA (nucleoside-2-O-)-methyltransferase 1 Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Cap-specific mRNA (nucleoside-2-O-)-methyltransferase 1 protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Sperm-specific antigen 2, C-terminal Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Sperm-specific antigen 2, C-terminal protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Double-stranded RNA-specific adenosine deaminase (DRADA) Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Double-stranded RNA-specific adenosine deaminase (DRADA) protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Neuroendocrine-specific golgi P55 Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Neuroendocrine-specific golgi P55 protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Phospholipase C, phosphatidylinositol-specific , X domain Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Phospholipase C, phosphatidylinositol-specific , X domain protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Cattle cerebrum and skeletal muscle-specific protein 1 Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Cattle cerebrum and skeletal muscle-specific protein 1 protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Peptidase C78, ubiquitin fold modifier-specific peptidase 1/ 2 Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Peptidase C78, ubiquitin fold modifier-specific peptidase 1/ 2 protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Phospholipase C, phosphatidylinositol-specific, Y domain Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Phospholipase C, phosphatidylinositol-specific, Y domain protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Calcyon neuron-specific vesicular protein Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Calcyon neuron-specific vesicular protein protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Hematopoietic lineage cell-specific protein Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Hematopoietic lineage cell-specific protein protein domain from the InterPro Predicted Protein Domain Annotations dataset.

N6 adenine-specific DNA methyltransferase, D21 class Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the N6 adenine-specific DNA methyltransferase, D21 class protein domain from the InterPro Predicted Protein Domain Annotations dataset.

DNA methylase, N-6 adenine-specific, conserved site Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the DNA methylase, N-6 adenine-specific, conserved site protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Growth-arrest-specific protein 2 domain Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Growth-arrest-specific protein 2 domain protein domain from the InterPro Predicted Protein Domain Annotations dataset.

ADP-specific phosphofructokinase/glucokinase Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the ADP-specific phosphofructokinase/glucokinase protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Phospholipase C, phosphoinositol-specific, EF-hand-like Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Phospholipase C, phosphoinositol-specific, EF-hand-like protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Leukocyte-specific transcript 1, LST-1 Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Leukocyte-specific transcript 1, LST-1 protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Lymphocyte-specific protein Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Lymphocyte-specific protein protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Cyclin B3, G2/mitotic-specific Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Cyclin B3, G2/mitotic-specific protein domain from the InterPro Predicted Protein Domain Annotations dataset.

DNA methylase, N-6 adenine-specific, eukaryotic Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the DNA methylase, N-6 adenine-specific, eukaryotic protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Ovary-specific acidic protein Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Ovary-specific acidic protein protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Sperm-specific antigen 2 Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Sperm-specific antigen 2 protein domain from the InterPro Predicted Protein Domain Annotations dataset.

PAB-dependent poly(A)-specific ribonuclease subunit PAN2 Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the PAB-dependent poly(A)-specific ribonuclease subunit PAN2 protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Spermatid-specific manchette-related protein 1 Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Spermatid-specific manchette-related protein 1 protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Serine/threonine-specific protein phosphatase/bis(5-nucleosyl)-tetraphosphatase Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Serine/threonine-specific protein phosphatase/bis(5-nucleosyl)-tetraphosphatase protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Pituitary-specific positive transcription factor 1 Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Pituitary-specific positive transcription factor 1 protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Glutaminyl-tRNA synthetase, class Ib, non-specific RNA-binding domain, N-terminal Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Glutaminyl-tRNA synthetase, class Ib, non-specific RNA-binding domain, N-terminal protein domain from the InterPro Predicted Protein Domain Annotations dataset.

tRNA-specific adenosine deaminase Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the tRNA-specific adenosine deaminase protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Meiosis-specific protein MEI4 Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Meiosis-specific protein MEI4 protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Tubulin-specific chaperone D, C-terminal Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Tubulin-specific chaperone D, C-terminal protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Protein-(glutamine-N5) methyltransferase, release factor-specific Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Protein-(glutamine-N5) methyltransferase, release factor-specific protein domain from the InterPro Predicted Protein Domain Annotations dataset.

N6 adenine-specific DNA methyltransferase, N12 class Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the N6 adenine-specific DNA methyltransferase, N12 class protein domain from the InterPro Predicted Protein Domain Annotations dataset.

D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Meiosis-specific protein Spo11 Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Meiosis-specific protein Spo11 protein domain from the InterPro Predicted Protein Domain Annotations dataset.

D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain conserved site Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain conserved site protein domain from the InterPro Predicted Protein Domain Annotations dataset.

DNA/RNA non-specific endonuclease Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the DNA/RNA non-specific endonuclease protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Protein male-specific lethal-1 Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Protein male-specific lethal-1 protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Calcium-binding and spermatid-specific protein 1 Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Calcium-binding and spermatid-specific protein 1 protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Ubiquitin specific protease domain Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Ubiquitin specific protease domain protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Lysine-specific demethylase-like domain Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Lysine-specific demethylase-like domain protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Growth arrest-specific protein 8 Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Growth arrest-specific protein 8 protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Growth arrest-specific protein 2 Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Growth arrest-specific protein 2 protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Sec8 exocyst complex component specific domain Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Sec8 exocyst complex component specific domain protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Ubiquitin-specific peptidase-like, SUMO isopeptidase Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Ubiquitin-specific peptidase-like, SUMO isopeptidase protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Poly(A)-specific ribonuclease, RNA-binding Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Poly(A)-specific ribonuclease, RNA-binding protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Myogenic basic muscle-specific protein Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Myogenic basic muscle-specific protein protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Placenta-specific protein 9 Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Placenta-specific protein 9 protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Gametocyte-specific factor 1, vertebrate Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Gametocyte-specific factor 1, vertebrate protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Regulated endocrine-specific protein 18 Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Regulated endocrine-specific protein 18 protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Structure-specific endonuclease subunit Slx4 Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Structure-specific endonuclease subunit Slx4 protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Structure-specific endonuclease subunit Slx1 Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Structure-specific endonuclease subunit Slx1 protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Meiosis specific protein SPO22 Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Meiosis specific protein SPO22 protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Testis-specific serine kinase substrate Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Testis-specific serine kinase substrate protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Tail specific protease Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Tail specific protease protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Sequence-specific single-strand DNA-binding protein Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Sequence-specific single-strand DNA-binding protein protein domain from the InterPro Predicted Protein Domain Annotations dataset.

DNA methylase, C-5 cytosine-specific, active site Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the DNA methylase, C-5 cytosine-specific, active site protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Spindlin/spermiogenesis-specific protein Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Spindlin/spermiogenesis-specific protein protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Testis and ovary-specific PAZ domain-containing protein 1 Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Testis and ovary-specific PAZ domain-containing protein 1 protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Skin-specific protein 32 Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Skin-specific protein 32 protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Alkyl hydroperoxide reductase subunit C/ Thiol specific antioxidant Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Alkyl hydroperoxide reductase subunit C/ Thiol specific antioxidant protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Endothelial cell-specific chemotaxis regulator Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Endothelial cell-specific chemotaxis regulator protein domain from the InterPro Predicted Protein Domain Annotations dataset.

ICP0-binding domain of Ubiquitin-specific protease 7 Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the ICP0-binding domain of Ubiquitin-specific protease 7 protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Lysine-specific demethylase 6A (UTX) Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Lysine-specific demethylase 6A (UTX) protein domain from the InterPro Predicted Protein Domain Annotations dataset.

specific language impairment qtl, 1 Gene Set

From OMIM Gene-Disease Associations

genes associated with the specific language impairment qtl, 1 phenotype from the curated OMIM Gene-Disease Associations dataset.

specific language impairment qtl, 3 Gene Set

From OMIM Gene-Disease Associations

genes associated with the specific language impairment qtl, 3 phenotype from the curated OMIM Gene-Disease Associations dataset.

{specific language impairment 4} Gene Set

From OMIM Gene-Disease Associations

genes associated with the {specific language impairment 4} phenotype from the curated OMIM Gene-Disease Associations dataset.

phobia, specific Gene Set

From OMIM Gene-Disease Associations

genes associated with the phobia, specific phenotype from the curated OMIM Gene-Disease Associations dataset.

specific language impairment qtl, 2 Gene Set

From OMIM Gene-Disease Associations

genes associated with the specific language impairment qtl, 2 phenotype from the curated OMIM Gene-Disease Associations dataset.

[analgesia from kappa-opioid receptor agonist, female-specific] Gene Set

From OMIM Gene-Disease Associations

genes associated with the [analgesia from kappa-opioid receptor agonist, female-specific] phenotype from the curated OMIM Gene-Disease Associations dataset.

{specific language impairment 5} Gene Set

From OMIM Gene-Disease Associations

genes associated with the {specific language impairment 5} phenotype from the curated OMIM Gene-Disease Associations dataset.

VEGFR1 specific signals Gene Set

From PID Pathways

proteins participating in the VEGFR1 specific signals pathway from the PID Pathways dataset.

G1/S-Specific Transcription Gene Set

From Reactome Pathways

proteins participating in the G1/S-Specific Transcription pathway from the Reactome Pathways dataset.

Reactions specific to the complex N-glycan synthesis pathway Gene Set

From Reactome Pathways

proteins participating in the Reactions specific to the complex N-glycan synthesis pathway pathway from the Reactome Pathways dataset.

Reactions specific to the hybrid N-glycan synthesis pathway Gene Set

From Reactome Pathways

proteins participating in the Reactions specific to the hybrid N-glycan synthesis pathway pathway from the Reactome Pathways dataset.

rheumatoid arthritis disease specific synovial fluid Gene Set

From TISSUES Curated Tissue Protein Expression Evidence Scores

proteins highly expressed in the tissue rheumatoid arthritis disease specific synovial fluid from the TISSUES Curated Tissue Protein Expression Evidence Scores dataset.

rheumatoid arthritis disease specific synovial tissue Gene Set

From TISSUES Curated Tissue Protein Expression Evidence Scores

proteins highly expressed in the tissue rheumatoid arthritis disease specific synovial tissue from the TISSUES Curated Tissue Protein Expression Evidence Scores dataset.

rheumatoid arthritis disease specific synovial tissue Gene Set

From TISSUES Text-mining Tissue Protein Expression Evidence Scores

proteins co-occuring with the tissue rheumatoid arthritis disease specific synovial tissue in abstracts of biomedical publications from the TISSUES Text-mining Tissue Protein Expression Evidence Scores dataset.

rheumatoid arthritis disease specific synovial fluid Gene Set

From TISSUES Text-mining Tissue Protein Expression Evidence Scores

proteins co-occuring with the tissue rheumatoid arthritis disease specific synovial fluid in abstracts of biomedical publications from the TISSUES Text-mining Tissue Protein Expression Evidence Scores dataset.

alzheimer disease specific cell type Gene Set

From TISSUES Text-mining Tissue Protein Expression Evidence Scores

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

rheumatoid arthritis disease specific synovial fibroblast Gene Set

From TISSUES Text-mining Tissue Protein Expression Evidence Scores

proteins co-occuring with the tissue rheumatoid arthritis disease specific synovial fibroblast in abstracts of biomedical publications from the TISSUES Text-mining Tissue Protein Expression Evidence Scores dataset.

fanconi anemia disease specific cell type Gene Set

From TISSUES Text-mining Tissue Protein Expression Evidence Scores

proteins co-occuring with the tissue fanconi anemia disease specific cell type in abstracts of biomedical publications from the TISSUES Text-mining Tissue Protein Expression Evidence Scores dataset.

tay-sachs disease specific cell type Gene Set

From TISSUES Text-mining Tissue Protein Expression Evidence Scores

proteins co-occuring with the tissue tay-sachs disease specific cell type in abstracts of biomedical publications from the TISSUES Text-mining Tissue Protein Expression Evidence Scores dataset.

rheumatoid arthritis disease specific fibroblast-like synoviocyte Gene Set

From TISSUES Text-mining Tissue Protein Expression Evidence Scores

proteins co-occuring with the tissue rheumatoid arthritis disease specific fibroblast-like synoviocyte in abstracts of biomedical publications from the TISSUES Text-mining Tissue Protein Expression Evidence Scores dataset.

Trifunctional protein deficiency with myopathy and neuropathy Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Trifunctional protein deficiency with myopathy and neuropathy phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Bifunctional peroxisomal enzyme deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Bifunctional peroxisomal enzyme deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

X-linked ichthyosis with steryl-sulfatase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the X-linked ichthyosis with steryl-sulfatase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Phosphoglycerate dehydrogenase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Phosphoglycerate dehydrogenase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Galactosylceramide beta-galactosidase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Galactosylceramide beta-galactosidase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Isolated 17,20-lyase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Isolated 17,20-lyase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Endplate acetylcholinesterase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Endplate acetylcholinesterase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Sepiapterin reductase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Sepiapterin reductase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Methionine adenosyltransferase deficiency, autosomal recessive Gene Set

From ClinVar Gene-Phenotype Associations

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

Pyruvate dehydrogenase E2 deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Pyruvate dehydrogenase E2 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Carbonic anhydrase va deficiency, hyperammonemia due to Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Carbonic anhydrase va deficiency, hyperammonemia due to phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LATE-ONSET Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LATE-ONSET phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Coenzyme Q10 deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Coenzyme Q10 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Deficiency of ribose-5-phosphate isomerase Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Deficiency of ribose-5-phosphate isomerase phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Kininogen deficiency, total Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Kininogen deficiency, total phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

6-pyruvoyl-tetrahydropterin synthase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the 6-pyruvoyl-tetrahydropterin synthase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Combined oxidative phosphorylation deficiency 9 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Combined oxidative phosphorylation deficiency 9 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Combined oxidative phosphorylation deficiency 8 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Combined oxidative phosphorylation deficiency 8 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

N-terminal acetyltransferase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the N-terminal acetyltransferase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Combined oxidative phosphorylation deficiency 1 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Combined oxidative phosphorylation deficiency 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Combined oxidative phosphorylation deficiency 7 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Combined oxidative phosphorylation deficiency 7 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Combined oxidative phosphorylation deficiency 6 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Combined oxidative phosphorylation deficiency 6 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Combined oxidative phosphorylation deficiency 5 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Combined oxidative phosphorylation deficiency 5 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Complement component 7 deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Complement component 7 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Creatine deficiency, X-linked Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Creatine deficiency, X-linked phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Glucocorticoid deficiency 2 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Glucocorticoid deficiency 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Glucocorticoid deficiency 4 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Glucocorticoid deficiency 4 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

SCID due to ADA deficiency, delayed onset Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the SCID due to ADA deficiency, delayed onset phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Properdin deficiency, X-linked Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Properdin deficiency, X-linked phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

PROPERDIN DEFICIENCY, TYPE II Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the PROPERDIN DEFICIENCY, TYPE II phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Complement factor d deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Complement factor d deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Thrombophilia due to protein S deficiency, autosomal recessive Gene Set

From ClinVar Gene-Phenotype Associations

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

Hypermethioninemia with s-adenosylhomocysteine hydrolase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Hypermethioninemia with s-adenosylhomocysteine hydrolase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Methylmalonyl-CoA epimerase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Methylmalonyl-CoA epimerase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Complement component 8 deficiency type 2 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Complement component 8 deficiency type 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Testosterone 17-beta-dehydrogenase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Testosterone 17-beta-dehydrogenase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Acyl-CoA dehydrogenase family, member 9, deficiency of Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Acyl-CoA dehydrogenase family, member 9, deficiency of phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Deficiency of 2-methylbutyryl-CoA dehydrogenase Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Deficiency of 2-methylbutyryl-CoA dehydrogenase phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Deficiency of isobutyryl-CoA dehydrogenase Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Deficiency of isobutyryl-CoA dehydrogenase phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Glutathione synthetase deficiency of erythrocytes, hemolytic anemia due to Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Glutathione synthetase deficiency of erythrocytes, hemolytic anemia due to phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Autoinflammation, antibody deficiency, and immune dysregulation, plcg2-associated Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Autoinflammation, antibody deficiency, and immune dysregulation, plcg2-associated phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Cerebral folate deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Cerebral folate deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Phosphoserine aminotransferase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Phosphoserine aminotransferase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Severe combined immunodeficiency due to ADA deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Severe combined immunodeficiency due to ADA deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Carnitine acylcarnitine translocase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Carnitine acylcarnitine translocase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Partial hypoxanthine-guanine phosphoribosyltransferase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Partial hypoxanthine-guanine phosphoribosyltransferase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Succinyl-CoA acetoacetate transferase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Succinyl-CoA acetoacetate transferase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Carnitine palmitoyltransferase I deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Carnitine palmitoyltransferase I deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Mitochondrial complex I deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Mitochondrial complex I deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Gamma-glutamylcysteine synthetase deficiency, hemolytic anemia due to Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Gamma-glutamylcysteine synthetase deficiency, hemolytic anemia due to phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

HNSHA due to aldolase A deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the HNSHA due to aldolase A deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Platelet-activating factor acetylhydrolase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Platelet-activating factor acetylhydrolase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Hereditary C1 esterase inhibitor deficiency - dysfunctional factor Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Hereditary C1 esterase inhibitor deficiency - dysfunctional factor phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Lipase deficiency combined Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Lipase deficiency combined phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

5-Oxoprolinase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the 5-Oxoprolinase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Glucocorticoid deficiency with achalasia Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Glucocorticoid deficiency with achalasia phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Proopiomelanocortin deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Proopiomelanocortin deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Pituitary hormone deficiency, combined Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Pituitary hormone deficiency, combined phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Intrinsic factor deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Intrinsic factor deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

21-hydroxylase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the 21-hydroxylase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Glutaryl-CoA oxidase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Glutaryl-CoA oxidase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 1 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 2 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Corticosterone methyloxidase type 1 deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Corticosterone methyloxidase type 1 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Thiopurine methyltransferase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Thiopurine methyltransferase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

METHYLCOBALAMIN DEFICIENCY, cblG TYPE Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the METHYLCOBALAMIN DEFICIENCY, cblG TYPE phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Carnitine palmitoyltransferase II deficiency, infantile Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Carnitine palmitoyltransferase II deficiency, infantile phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Lactate dehydrogenase b deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Lactate dehydrogenase b deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Combined oxidative phosphorylation deficiency 18 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Combined oxidative phosphorylation deficiency 18 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Combined oxidative phosphorylation deficiency 17 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Combined oxidative phosphorylation deficiency 17 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Combined oxidative phosphorylation deficiency 16 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Combined oxidative phosphorylation deficiency 16 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Combined oxidative phosphorylation deficiency 14 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Combined oxidative phosphorylation deficiency 14 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Combined oxidative phosphorylation deficiency 13 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Combined oxidative phosphorylation deficiency 13 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Combined oxidative phosphorylation deficiency 12 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Combined oxidative phosphorylation deficiency 12 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Combined oxidative phosphorylation deficiency 11 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Combined oxidative phosphorylation deficiency 11 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Combined oxidative phosphorylation deficiency 10 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Combined oxidative phosphorylation deficiency 10 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Deficiency of 3-hydroxyacyl-CoA dehydrogenase Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Deficiency of 3-hydroxyacyl-CoA dehydrogenase phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Plasminogen deficiency, type I Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Plasminogen deficiency, type I phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Molybdenum cofactor deficiency, complementation group C Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Molybdenum cofactor deficiency, complementation group C phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Molybdenum cofactor deficiency, complementation group B Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Molybdenum cofactor deficiency, complementation group B phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Molybdenum cofactor deficiency, complementation group A Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Molybdenum cofactor deficiency, complementation group A phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Biotinidase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Biotinidase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Autosomal dominant isolated somatotropin deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Hypohidrotic ectodermal dysplasia with immune deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Hypohidrotic ectodermal dysplasia with immune deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Deficiency of phosphoserine phosphatase Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Deficiency of phosphoserine phosphatase phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Isolated growth hormone deficiency type 1B Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Isolated growth hormone deficiency type 1B phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Deficiency of butyryl-CoA dehydrogenase Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Deficiency of butyryl-CoA dehydrogenase phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Anhidrotic ectodermal dysplasia with immune deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Anhidrotic ectodermal dysplasia with immune deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Complete combined 17-alpha-hydroxylase/17,20-lyase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Complete combined 17-alpha-hydroxylase/17,20-lyase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

3 Methylcrotonyl-CoA carboxylase 1 deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the 3 Methylcrotonyl-CoA carboxylase 1 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Deficiency of hyaluronoglucosaminidase Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Deficiency of hyaluronoglucosaminidase phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Sulfite oxidase deficiency, isolated Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Sulfite oxidase deficiency, isolated phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Plasminogen activator inhibitor type 1 deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Plasminogen activator inhibitor type 1 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Pyruvate dehydrogenase phosphatase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Pyruvate dehydrogenase phosphatase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Combined oxidative phosphorylation deficiency 22 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Combined oxidative phosphorylation deficiency 22 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Combined oxidative phosphorylation deficiency 20 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Combined oxidative phosphorylation deficiency 20 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Combined oxidative phosphorylation deficiency 21 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Combined oxidative phosphorylation deficiency 21 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Monoamine oxidase A deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Monoamine oxidase A deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Factor V deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Factor V deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

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

From ClinVar Gene-Phenotype Associations

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

Adenine phosphoribosyltransferase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Adenine phosphoribosyltransferase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Ehlers-Danlos-like syndrome due to tenascin-X deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Ehlers-Danlos-like syndrome due to tenascin-X deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Glutamate formiminotransferase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Glutamate formiminotransferase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Hypoglycemia with deficiency of glycogen synthetase in the liver Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Hypoglycemia with deficiency of glycogen synthetase in the liver phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

LEUKOCYTE ADHESION DEFICIENCY, TYPE III Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the LEUKOCYTE ADHESION DEFICIENCY, TYPE III phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Follicle-stimulating hormone deficiency, isolated Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Follicle-stimulating hormone deficiency, isolated phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Ganglioside sialidase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Ganglioside sialidase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

C1q deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the C1q deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Interferon gamma receptor deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Interferon gamma receptor deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Platelet glycoprotein IV deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Platelet glycoprotein IV deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

N-acetylaspartate deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the N-acetylaspartate deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Adenylosuccinate lyase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Adenylosuccinate lyase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Triosephosphate isomerase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Triosephosphate isomerase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Gaucher disease, atypical, due to saposin C deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Gaucher disease, atypical, due to saposin C deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Disordered steroidogenesis due to cytochrome p450 oxidoreductase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Disordered steroidogenesis due to cytochrome p450 oxidoreductase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Aromatase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Aromatase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Hereditary factor II deficiency disease Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Hereditary factor II deficiency disease phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Mitochondrial complex III deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Mitochondrial complex III deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Factor xiii, a subunit, deficiency of Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Factor xiii, a subunit, deficiency of phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Mitochondrial complex III deficiency, nuclear type 5 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Mitochondrial complex III deficiency, nuclear type 5 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Mitochondrial complex III deficiency, nuclear type 2 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Mitochondrial complex III deficiency, nuclear type 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

3-methylcrotonyl CoA carboxylase 2 deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the 3-methylcrotonyl CoA carboxylase 2 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Hemolytic anemia due to hexokinase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Hemolytic anemia due to hexokinase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Leigh syndrome due to mitochondrial complex I deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Leigh syndrome due to mitochondrial complex I deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Multiple sulfatase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Multiple sulfatase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Corticosteroid-binding globulin deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Corticosteroid-binding globulin deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Combined oxidative phosphorylation deficiency 15 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Combined oxidative phosphorylation deficiency 15 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Corticosterone methyloxidase type 2 deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Corticosterone methyloxidase type 2 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LETHAL NEONATAL Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LETHAL NEONATAL phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Complement component 9 deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Complement component 9 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Holocarboxylase synthetase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Holocarboxylase synthetase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

2,4-Dienoyl-CoA reductase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the 2,4-Dienoyl-CoA reductase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

LIPOPROTEIN(a) DEFICIENCY, CONGENITAL Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the LIPOPROTEIN(a) DEFICIENCY, CONGENITAL phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Deficiency of glycerate kinase Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Deficiency of glycerate kinase phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Ataxia with vitamin E deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Ataxia with vitamin E deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 7 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 7 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 6 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 6 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 8 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 8 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Deficiency of galactokinase Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Deficiency of galactokinase phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

ACTH deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the ACTH deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

PROPERDIN DEFICIENCY, TYPE III Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the PROPERDIN DEFICIENCY, TYPE III phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Carboxylesterase 1 deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Carboxylesterase 1 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Purine-nucleoside phosphorylase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Purine-nucleoside phosphorylase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Neonatal intrahepatic cholestasis caused by citrin deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Neonatal intrahepatic cholestasis caused by citrin deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Complement component 6 deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Complement component 6 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Antithrombin III deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Antithrombin III deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Inosine triphosphatase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Inosine triphosphatase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Growth hormone deficiency with pituitary anomalies Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Growth hormone deficiency with pituitary anomalies phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Pyruvate dehydrogenase lipoic acid synthetase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Pyruvate dehydrogenase lipoic acid synthetase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Ulna and fibula absence of with severe limb deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Ulna and fibula absence of with severe limb deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Dendritic cell, monocyte, B lymphocyte, and natural killer lymphocyte deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Dendritic cell, monocyte, B lymphocyte, and natural killer lymphocyte deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Homocysteinemia due to MTHFR deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Homocysteinemia due to MTHFR deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Deficiency of pyrroline-5-carboxylate reductase Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Deficiency of pyrroline-5-carboxylate reductase phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Immunodeficiency due to ficolin 3 deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Immunodeficiency due to ficolin 3 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Sarcosine dehydrogenase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Sarcosine dehydrogenase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Factor v and factor viii, combined deficiency of, 2 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Factor v and factor viii, combined deficiency of, 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Branched-chain ketoacid dehydrogenase kinase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Branched-chain ketoacid dehydrogenase kinase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

L-ferritin deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the L-ferritin deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Medium-chain acyl-coenzyme A dehydrogenase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Medium-chain acyl-coenzyme A dehydrogenase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Pseudoxanthoma elasticum-like disorder with multiple coagulation factor deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Pseudoxanthoma elasticum-like disorder with multiple coagulation factor deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Arginase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Arginase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Hepatic lipase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Hepatic lipase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Factor X deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Factor X deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Hypercarotenemia and vitamin a deficiency, autosomal dominant Gene Set

From ClinVar Gene-Phenotype Associations

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

Pyruvate dehydrogenase E3-binding protein deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Pyruvate dehydrogenase E3-binding protein deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Hereditary factor IX deficiency disease Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Hereditary factor IX deficiency disease phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Alpha-fetoprotein deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Alpha-fetoprotein deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Hypermethioninemia due to adenosine kinase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Hypermethioninemia due to adenosine kinase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Vitamin k-dependent clotting factors, combined deficiency of, 1 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Vitamin k-dependent clotting factors, combined deficiency of, 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Deficiency of iodide peroxidase Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Deficiency of iodide peroxidase phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Glycosylphosphatidylinositol deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Glycosylphosphatidylinositol deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Vitamin k-dependent clotting factors, combined deficiency of, 2 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Vitamin k-dependent clotting factors, combined deficiency of, 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Leukocyte adhesion deficiency type 1 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Leukocyte adhesion deficiency type 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Congenital lactase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Congenital lactase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Caspase-8 deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Caspase-8 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Uridine 5-prime monophosphate hydrolase deficiency, hemolytic anemia due to Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Uridine 5-prime monophosphate hydrolase deficiency, hemolytic anemia due to phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Phosphoglycerate kinase 1 deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Phosphoglycerate kinase 1 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Anaphylotoxin inactivator deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Anaphylotoxin inactivator deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Cytochrome-c oxidase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Cytochrome-c oxidase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Enterokinase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Enterokinase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Coenzyme Q10 deficiency, primary, 6 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Coenzyme Q10 deficiency, primary, 6 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Coenzyme Q10 deficiency, primary, 5 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Coenzyme Q10 deficiency, primary, 5 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Coenzyme Q10 deficiency, primary, 2 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Coenzyme Q10 deficiency, primary, 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Coenzyme Q10 deficiency, primary, 3 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Coenzyme Q10 deficiency, primary, 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Erythrocyte amp deaminase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Erythrocyte amp deaminase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Factor VII deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Factor VII deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

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

From ClinVar Gene-Phenotype Associations

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

Apolipoprotein a-i deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Apolipoprotein a-i deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Glut1 deficiency syndrome 1, autosomal recessive Gene Set

From ClinVar Gene-Phenotype Associations

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

Gamma-aminobutyric acid transaminase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Gamma-aminobutyric acid transaminase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Myeloperoxidase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Myeloperoxidase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Mitochondrial phosphate carrier deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Mitochondrial phosphate carrier deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Hereditary factor XI deficiency disease Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Hereditary factor XI deficiency disease phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Porphobilinogen synthase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Porphobilinogen synthase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Very long chain acyl-CoA dehydrogenase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Very long chain acyl-CoA dehydrogenase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

IRAK4 deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the IRAK4 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Leukocyte adhesion deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Leukocyte adhesion deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Muscular dystrophy, congenital, due to ITGA7 deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Muscular dystrophy, congenital, due to ITGA7 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 4 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 4 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Cortisone reductase deficiency 2 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Cortisone reductase deficiency 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Arginine:glycine amidinotransferase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Arginine:glycine amidinotransferase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Pyruvate kinase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Pyruvate kinase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Methionine adenosyltransferase deficiency, autosomal dominant Gene Set

From ClinVar Gene-Phenotype Associations

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

Muscle AMP deaminase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Muscle AMP deaminase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Dihydropyrimidinase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Dihydropyrimidinase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Dimethylglycine dehydrogenase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Dimethylglycine dehydrogenase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Deficiency of hydroxymethylglutaryl-CoA lyase Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Deficiency of hydroxymethylglutaryl-CoA lyase phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Monocyte and dendritic cell deficiency, autosomal recessive Gene Set

From ClinVar Gene-Phenotype Associations

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

Pyruvate dehydrogenase E1-alpha deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Pyruvate dehydrogenase E1-alpha deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Isovaleryl-CoA dehydrogenase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Isovaleryl-CoA dehydrogenase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Cd59 deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Cd59 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Ornithine aminotransferase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Ornithine aminotransferase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Sphingolipid activator protein 1 deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Sphingolipid activator protein 1 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Deficiency of ferroxidase Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Deficiency of ferroxidase phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Combined partial 17-alpha-hydroxylase/17,20-lyase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Combined partial 17-alpha-hydroxylase/17,20-lyase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Deficiency of steroid 11-beta-monooxygenase Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Deficiency of steroid 11-beta-monooxygenase phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Lysosomal acid lipase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Lysosomal acid lipase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Dopamine beta hydroxylase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Dopamine beta hydroxylase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Butyrylcholinesterase deficiency, fluoride-resistant, japanese type Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Butyrylcholinesterase deficiency, fluoride-resistant, japanese type phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

UDPglucose-4-epimerase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the UDPglucose-4-epimerase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Homocystinuria due to MTHFR deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Homocystinuria due to MTHFR deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Deficiency of alpha-mannosidase Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Deficiency of alpha-mannosidase phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Insulin-like growth factor I deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Insulin-like growth factor I deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Leigh syndrome due to mitochondrial complex II deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Leigh syndrome due to mitochondrial complex II deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Pituitary hormone deficiency, combined 4 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Pituitary hormone deficiency, combined 4 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Pituitary hormone deficiency, combined 3 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Pituitary hormone deficiency, combined 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Pituitary hormone deficiency, combined 2 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Pituitary hormone deficiency, combined 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Pituitary hormone deficiency, combined 1 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Pituitary hormone deficiency, combined 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Complement component 4, partial deficiency of, due to dysfunctional c1 inhibitor Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Complement component 4, partial deficiency of, due to dysfunctional c1 inhibitor phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Pyruvate carboxylase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Pyruvate carboxylase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Gluthathione synthetase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Gluthathione synthetase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Fumarase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Fumarase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Deficiency of transaldolase Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Deficiency of transaldolase phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Mitochondrial pyruvate carrier deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Mitochondrial pyruvate carrier deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Pyruvate dehydrogenase E1-beta deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Pyruvate dehydrogenase E1-beta deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

MASP2 deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the MASP2 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Argininosuccinate lyase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Argininosuccinate lyase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Prekallikrein deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Prekallikrein deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Chitotriosidase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Chitotriosidase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

4-Alpha-hydroxyphenylpyruvate hydroxylase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the 4-Alpha-hydroxyphenylpyruvate hydroxylase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Anti-plasmin deficiency, congenital Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Anti-plasmin deficiency, congenital phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Prothrombin deficiency, congenital Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Prothrombin deficiency, congenital phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Mitochondrial trifunctional protein deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Mitochondrial trifunctional protein deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

GTP cyclohydrolase I deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the GTP cyclohydrolase I deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Deficiency of malonyl-CoA decarboxylase Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Deficiency of malonyl-CoA decarboxylase phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

3 beta-Hydroxysteroid dehydrogenase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the 3 beta-Hydroxysteroid dehydrogenase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Succinate-semialdehyde dehydrogenase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Succinate-semialdehyde dehydrogenase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

X-linked agammaglobulinemia with growth hormone deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the X-linked agammaglobulinemia with growth hormone deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Okt4 epitope deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Okt4 epitope deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Deficiency of acetyl-CoA acetyltransferase Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Deficiency of acetyl-CoA acetyltransferase phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Mitochondrial complex II deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Mitochondrial complex II deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Mineralocorticoid deficiency, isolated Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Mineralocorticoid deficiency, isolated phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Complement 1s deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Complement 1s deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Dihydropteridine reductase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Dihydropteridine reductase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Mannose-binding protein deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Mannose-binding protein deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Glucose transporter type 1 deficiency syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Glucose transporter type 1 deficiency syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Myd88 deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Myd88 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Cd8 deficiency, familial Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Cd8 deficiency, familial phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Congenital muscular dystrophy due to partial LAMA2 deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Congenital muscular dystrophy due to partial LAMA2 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Acid-labile subunit deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Acid-labile subunit deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Fructose-biphosphatase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Fructose-biphosphatase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Megaloblastic anemia due to dihydrofolate reductase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Megaloblastic anemia due to dihydrofolate reductase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Complement factor B deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Complement factor B deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Obesity, severe, due to leptin deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Obesity, severe, due to leptin deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Beta-hydroxyisobutyryl-CoA deacylase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Beta-hydroxyisobutyryl-CoA deacylase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Hereditary factor VIII deficiency disease Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Hereditary factor VIII deficiency disease phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Proline dehydrogenase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Proline dehydrogenase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Factor H deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Factor H deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Glutamine deficiency, congenital Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Glutamine deficiency, congenital phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Deficiency of aromatic-L-amino-acid decarboxylase Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Deficiency of aromatic-L-amino-acid decarboxylase phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Glycine N-methyltransferase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Glycine N-methyltransferase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Ornithine carbamoyltransferase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Ornithine carbamoyltransferase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Sucrase-isomaltase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Sucrase-isomaltase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Cholesterol monooxygenase (side-chain cleaving) deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Cholesterol monooxygenase (side-chain cleaving) deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Fucosyltransferase 6 deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Fucosyltransferase 6 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Asparagine synthetase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Asparagine synthetase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Adenylate kinase deficiency, hemolytic anemia due to Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Adenylate kinase deficiency, hemolytic anemia due to phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Pituitary hormone deficiency, combined, 5 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Pituitary hormone deficiency, combined, 5 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Pituitary hormone deficiency, combined, 6 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Pituitary hormone deficiency, combined, 6 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Deficiency of butyrylcholine esterase Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Deficiency of butyrylcholine esterase phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

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

From ClinVar Gene-Phenotype Associations

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

Protein S deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Protein S deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Deficiency of glycerol kinase Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Deficiency of glycerol kinase phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Deficiency of xanthine oxidase Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Deficiency of xanthine oxidase phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Urocanate hydratase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Urocanate hydratase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

4-Hydroxyphenylpyruvate dioxygenase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the 4-Hydroxyphenylpyruvate dioxygenase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Combined deficiency of factor V and factor VIII, 1 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Combined deficiency of factor V and factor VIII, 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Factor xiii, b subunit, deficiency of Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Factor xiii, b subunit, deficiency of phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Growth deficiency and mental retardation with facial dysmorphism Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Growth deficiency and mental retardation with facial dysmorphism phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Hyperphenylalaninemia, bh4-deficient, a, due to partial pts deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Hyperphenylalaninemia, bh4-deficient, a, due to partial pts deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Combined deficiency of sialidase AND beta galactosidase Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Combined deficiency of sialidase AND beta galactosidase phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Deficiency of (R)-20-hydroxysteroid dehydrogenase Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Deficiency of (R)-20-hydroxysteroid dehydrogenase phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Prolidase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Prolidase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Deficiency of beta-ureidopropionase Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Deficiency of beta-ureidopropionase phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Deficiency of guanidinoacetate methyltransferase Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Deficiency of guanidinoacetate methyltransferase phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

MYD88 Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease MYD88 Deficiency from the curated CTD Gene-Disease Associations dataset.

Carnitine Palmitoyltransferase II Deficiency, Lethal Neonatal Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Carnitine Palmitoyltransferase II Deficiency, Lethal Neonatal from the curated CTD Gene-Disease Associations dataset.

Anemia, Iron-Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Anemia, Iron-Deficiency from the curated CTD Gene-Disease Associations dataset.

Congenital adrenal hyperplasia due to 21 hydroxylase deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Congenital adrenal hyperplasia due to 21 hydroxylase deficiency from the curated CTD Gene-Disease Associations dataset.

Platelet Glycoprotein IV Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Platelet Glycoprotein IV Deficiency from the curated CTD Gene-Disease Associations dataset.

Mitochondrial Phosphate Carrier Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Mitochondrial Phosphate Carrier Deficiency from the curated CTD Gene-Disease Associations dataset.

Leukocyte Adhesion Deficiency, Type III Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Leukocyte Adhesion Deficiency, Type III from the curated CTD Gene-Disease Associations dataset.

Prekallikrein Deficiency Gene Set

From CTD Gene-Disease Associations

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

Methylenetetrahydrofolate reductase deficiency Gene Set

From CTD Gene-Disease Associations

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

6-pyruvoyl-tetrahydropterin synthase deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease 6-pyruvoyl-tetrahydropterin synthase deficiency from the curated CTD Gene-Disease Associations dataset.

Factor XI Deficiency Gene Set

From CTD Gene-Disease Associations

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

Carnitine palmitoyl transferase 1A deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Carnitine palmitoyl transferase 1A deficiency from the curated CTD Gene-Disease Associations dataset.

Preaxial deficiency, postaxial polydactyly and hypospadias Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Preaxial deficiency, postaxial polydactyly and hypospadias from the curated CTD Gene-Disease Associations dataset.

THYROTROPIN-RELEASING HORMONE DEFICIENCY Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease THYROTROPIN-RELEASING HORMONE DEFICIENCY from the curated CTD Gene-Disease Associations dataset.

Carbamoyl-Phosphate Synthase I Deficiency Disease Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Carbamoyl-Phosphate Synthase I Deficiency Disease from the curated CTD Gene-Disease Associations dataset.

Tyrosine Kinase 2 Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Tyrosine Kinase 2 Deficiency from the curated CTD Gene-Disease Associations dataset.

Properdin deficiency, X-linked Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Properdin deficiency, X-linked from the curated CTD Gene-Disease Associations dataset.

COENZYME Q10 DEFICIENCY, PRIMARY, 1 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease COENZYME Q10 DEFICIENCY, PRIMARY, 1 from the curated CTD Gene-Disease Associations dataset.

Glutathione synthetase deficiency Gene Set

From CTD Gene-Disease Associations

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

Glucocorticoid Deficiency 2 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Glucocorticoid Deficiency 2 from the curated CTD Gene-Disease Associations dataset.

Aniridia cerebellar ataxia mental deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Aniridia cerebellar ataxia mental deficiency from the curated CTD Gene-Disease Associations dataset.

Combined Oxidative Phosphorylation Deficiency 3 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Combined Oxidative Phosphorylation Deficiency 3 from the curated CTD Gene-Disease Associations dataset.

Proopiomelanocortin Deficiency Gene Set

From CTD Gene-Disease Associations

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

HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO GLUCOSE PHOSPHATE ISOMERASE DEFICIENCY Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO GLUCOSE PHOSPHATE ISOMERASE DEFICIENCY from the curated CTD Gene-Disease Associations dataset.

Cardioencephalomyopathy, Fatal Infantile, due to Cytochrome C Oxidase Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Cardioencephalomyopathy, Fatal Infantile, due to Cytochrome C Oxidase Deficiency from the curated CTD Gene-Disease Associations dataset.

Glucocorticoid Deficiency 3 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Glucocorticoid Deficiency 3 from the curated CTD Gene-Disease Associations dataset.

Intrinsic Factor Deficiency Gene Set

From CTD Gene-Disease Associations

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

Adenosine monophosphate deaminase deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Adenosine monophosphate deaminase deficiency from the curated CTD Gene-Disease Associations dataset.

alpha 1-Antitrypsin Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease alpha 1-Antitrypsin Deficiency from the curated CTD Gene-Disease Associations dataset.

Combined Oxidative Phosphorylation Deficiency 2 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Combined Oxidative Phosphorylation Deficiency 2 from the curated CTD Gene-Disease Associations dataset.

Plasminogen Deficiency, Type I Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Plasminogen Deficiency, Type I from the curated CTD Gene-Disease Associations dataset.

IgA Deficiency Gene Set

From CTD Gene-Disease Associations

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

Lipase deficiency combined Gene Set

From CTD Gene-Disease Associations

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

Glutathione Synthetase Deficiency of Erythrocytes, Hemolytic Anemia due to Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Glutathione Synthetase Deficiency of Erythrocytes, Hemolytic Anemia due to from the curated CTD Gene-Disease Associations dataset.

DNA Repair-Deficiency Disorders Gene Set

From CTD Gene-Disease Associations

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

Congenital thrombotic disease, due to Protein C deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Congenital thrombotic disease, due to Protein C deficiency from the curated CTD Gene-Disease Associations dataset.

Enterokinase Deficiency Gene Set

From CTD Gene-Disease Associations

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

Carnitine Palmitoyltransferase II Deficiency, Late-Onset Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Carnitine Palmitoyltransferase II Deficiency, Late-Onset from the curated CTD Gene-Disease Associations dataset.

Lactase Deficiency, Congenital Gene Set

From CTD Gene-Disease Associations

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

Lecithin Acyltransferase Deficiency Gene Set

From CTD Gene-Disease Associations

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

Interleukin 2 Receptor, Alpha, Deficiency of Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Interleukin 2 Receptor, Alpha, Deficiency of from the curated CTD Gene-Disease Associations dataset.

ORNITHINE TRANSCARBAMYLASE DEFICIENCY, HYPERAMMONEMIA DUE TO Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease ORNITHINE TRANSCARBAMYLASE DEFICIENCY, HYPERAMMONEMIA DUE TO from the curated CTD Gene-Disease Associations dataset.

Beta ketothiolase deficiency Gene Set

From CTD Gene-Disease Associations

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

Transaldolase Deficiency Gene Set

From CTD Gene-Disease Associations

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

Anti-plasmin deficiency, congenital Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Anti-plasmin deficiency, congenital from the curated CTD Gene-Disease Associations dataset.

Succinyl-CoA:3-oxoacid CoA transferase deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Succinyl-CoA:3-oxoacid CoA transferase deficiency from the curated CTD Gene-Disease Associations dataset.

CD8 Deficiency, Familial Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease CD8 Deficiency, Familial from the curated CTD Gene-Disease Associations dataset.

Neuraminidase 1 deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Neuraminidase 1 deficiency from the curated CTD Gene-Disease Associations dataset.

Folic Acid Deficiency Gene Set

From CTD Gene-Disease Associations

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

Lysosomal acid lipase deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Lysosomal acid lipase deficiency from the curated CTD Gene-Disease Associations dataset.

Adenylate Kinase Deficiency, Hemolytic Anemia Due To Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Adenylate Kinase Deficiency, Hemolytic Anemia Due To from the curated CTD Gene-Disease Associations dataset.

Vitamin B 12 Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Vitamin B 12 Deficiency from the curated CTD Gene-Disease Associations dataset.

Isolated Growth Hormone Deficiency, Type II Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Isolated Growth Hormone Deficiency, Type II from the curated CTD Gene-Disease Associations dataset.

Neurodegeneration Due To Cerebral Folate Transport Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Neurodegeneration Due To Cerebral Folate Transport Deficiency from the curated CTD Gene-Disease Associations dataset.

Familial HDL deficiency Gene Set

From CTD Gene-Disease Associations

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

Carnitine-Acylcarnitine Translocase Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Carnitine-Acylcarnitine Translocase Deficiency from the curated CTD Gene-Disease Associations dataset.

Trifunctional Protein Deficiency With Myopathy And Neuropathy Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Trifunctional Protein Deficiency With Myopathy And Neuropathy from the curated CTD Gene-Disease Associations dataset.

Methylcobalamin Deficiency, CblG Type Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Methylcobalamin Deficiency, CblG Type from the curated CTD Gene-Disease Associations dataset.

Flaujeac factor deficiency Gene Set

From CTD Gene-Disease Associations

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

Ribose 5-Phosphate Isomerase Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Ribose 5-Phosphate Isomerase Deficiency from the curated CTD Gene-Disease Associations dataset.

Pyruvate dehydrogenase phosphatase deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Pyruvate dehydrogenase phosphatase deficiency from the curated CTD Gene-Disease Associations dataset.

VLCAD deficiency Gene Set

From CTD Gene-Disease Associations

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

18-Hydroxylase deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease 18-Hydroxylase deficiency from the curated CTD Gene-Disease Associations dataset.

Creatine deficiency, X-linked Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Creatine deficiency, X-linked from the curated CTD Gene-Disease Associations dataset.

Mitochondrial Complex III Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Mitochondrial Complex III Deficiency from the curated CTD Gene-Disease Associations dataset.

PROPROTEIN CONVERTASE 1/3 DEFICIENCY Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease PROPROTEIN CONVERTASE 1/3 DEFICIENCY from the curated CTD Gene-Disease Associations dataset.

LONG-CHAIN 3-HYDROXYACYL-CoA DEHYDROGENASE DEFICIENCY Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease LONG-CHAIN 3-HYDROXYACYL-CoA DEHYDROGENASE DEFICIENCY from the curated CTD Gene-Disease Associations dataset.

dopamine beta hydroxylase deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease dopamine beta hydroxylase deficiency from the curated CTD Gene-Disease Associations dataset.

Ehlers-Danlos syndrome caused by tenascin-X deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Ehlers-Danlos syndrome caused by tenascin-X deficiency from the curated CTD Gene-Disease Associations dataset.

Growth mental deficiency syndrome of Myhre Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Growth mental deficiency syndrome of Myhre from the curated CTD Gene-Disease Associations dataset.

Split-Hand/Foot Malformation With Long Bone Deficiency 2 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Split-Hand/Foot Malformation With Long Bone Deficiency 2 from the curated CTD Gene-Disease Associations dataset.

Ornithine Carbamoyltransferase Deficiency Disease Gene Set

From CTD Gene-Disease Associations

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

Protein Deficiency Gene Set

From CTD Gene-Disease Associations

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

Factor 8 deficiency, acquired Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Factor 8 deficiency, acquired from the curated CTD Gene-Disease Associations dataset.

3-methylcrotonyl CoA carboxylase 2 deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease 3-methylcrotonyl CoA carboxylase 2 deficiency from the curated CTD Gene-Disease Associations dataset.

COMPLEMENT COMPONENT 8 DEFICIENCY, TYPE I Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease COMPLEMENT COMPONENT 8 DEFICIENCY, TYPE I from the curated CTD Gene-Disease Associations dataset.

Adenylosuccinate lyase deficiency Gene Set

From CTD Gene-Disease Associations

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

THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANT Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANT from the curated CTD Gene-Disease Associations dataset.

Acyl-CoA Dehydrogenase Family, Member 9, Deficiency of Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Acyl-CoA Dehydrogenase Family, Member 9, Deficiency of from the curated CTD Gene-Disease Associations dataset.

Thiopurine S methyltranferase deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Thiopurine S methyltranferase deficiency from the curated CTD Gene-Disease Associations dataset.

Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency from the curated CTD Gene-Disease Associations dataset.

3-Hydroxyacyl-CoA Dehydrogenase Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease 3-Hydroxyacyl-CoA Dehydrogenase Deficiency from the curated CTD Gene-Disease Associations dataset.

3-Hydroxy-3-Methylglutaryl-CoA Synthase 2 Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease 3-Hydroxy-3-Methylglutaryl-CoA Synthase 2 Deficiency from the curated CTD Gene-Disease Associations dataset.

Isolated Growth Hormone Deficiency, Type IB Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Isolated Growth Hormone Deficiency, Type IB from the curated CTD Gene-Disease Associations dataset.

Vitamin A Deficiency Gene Set

From CTD Gene-Disease Associations

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

Molybdenum cofactor deficiency Gene Set

From CTD Gene-Disease Associations

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

Split-Hand/Foot Malformation With Long Bone Deficiency 3 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Split-Hand/Foot Malformation With Long Bone Deficiency 3 from the curated CTD Gene-Disease Associations dataset.

Phosphoglycerate Kinase 1 Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Phosphoglycerate Kinase 1 Deficiency from the curated CTD Gene-Disease Associations dataset.

COMPLEMENT COMPONENT 8 DEFICIENCY, TYPE II Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease COMPLEMENT COMPONENT 8 DEFICIENCY, TYPE II from the curated CTD Gene-Disease Associations dataset.

Severe combined immunodeficiency due to adenosine deaminase deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Severe combined immunodeficiency due to adenosine deaminase deficiency from the curated CTD Gene-Disease Associations dataset.

Multiple Acyl Coenzyme A Dehydrogenase Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Multiple Acyl Coenzyme A Dehydrogenase Deficiency from the curated CTD Gene-Disease Associations dataset.

COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 7 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 7 from the curated CTD Gene-Disease Associations dataset.

COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 6 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 6 from the curated CTD Gene-Disease Associations dataset.

Plasminogen Activator Inhibitor-1 Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Plasminogen Activator Inhibitor-1 Deficiency from the curated CTD Gene-Disease Associations dataset.

Pyruvate Dehydrogenase E2 Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Pyruvate Dehydrogenase E2 Deficiency from the curated CTD Gene-Disease Associations dataset.

Phosphoglycerate Dehydrogenase Deficiency Gene Set

From CTD Gene-Disease Associations

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

Methylmalonic Aciduria due to Methylmalonyl-CoA Mutase Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Methylmalonic Aciduria due to Methylmalonyl-CoA Mutase Deficiency from the curated CTD Gene-Disease Associations dataset.

Vitamin D Deficiency Gene Set

From CTD Gene-Disease Associations

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

Factor V Deficiency Gene Set

From CTD Gene-Disease Associations

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

Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia due to Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia due to from the curated CTD Gene-Disease Associations dataset.

Pyruvate Dehydrogenase Complex Deficiency Disease Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Pyruvate Dehydrogenase Complex Deficiency Disease from the curated CTD Gene-Disease Associations dataset.

Ataxia with vitamin E deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Ataxia with vitamin E deficiency from the curated CTD Gene-Disease Associations dataset.

Aromatic amino acid decarboxylase deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Aromatic amino acid decarboxylase deficiency from the curated CTD Gene-Disease Associations dataset.

Factor X Deficiency Gene Set

From CTD Gene-Disease Associations

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

FACTOR V AND FACTOR VIII, COMBINED DEFICIENCY OF, 1 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease FACTOR V AND FACTOR VIII, COMBINED DEFICIENCY OF, 1 from the curated CTD Gene-Disease Associations dataset.

Holocarboxylase Synthetase Deficiency Gene Set

From CTD Gene-Disease Associations

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

N-acetyl glutamate synthetase deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease N-acetyl glutamate synthetase deficiency from the curated CTD Gene-Disease Associations dataset.

Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1 from the curated CTD Gene-Disease Associations dataset.

Dimethylglycine Dehydrogenase Deficiency Gene Set

From CTD Gene-Disease Associations

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

Pituitary Hormone Deficiency, Combined, 1 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Pituitary Hormone Deficiency, Combined, 1 from the curated CTD Gene-Disease Associations dataset.

Pituitary Hormone Deficiency, Combined, 2 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Pituitary Hormone Deficiency, Combined, 2 from the curated CTD Gene-Disease Associations dataset.

Trehalase Deficiency Gene Set

From CTD Gene-Disease Associations

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

Guanidinoacetate methyltransferase deficiency Gene Set

From CTD Gene-Disease Associations

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

Aminoacylase 1 deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Aminoacylase 1 deficiency from the curated CTD Gene-Disease Associations dataset.

Antithrombin III Deficiency Gene Set

From CTD Gene-Disease Associations

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

Phosphoenolpyruvate carboxykinase deficiency Gene Set

From CTD Gene-Disease Associations

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

17-Hydroxysteroid Dehydrogenase Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease 17-Hydroxysteroid Dehydrogenase Deficiency from the curated CTD Gene-Disease Associations dataset.

Heparin Cofactor II Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Heparin Cofactor II Deficiency from the curated CTD Gene-Disease Associations dataset.

Hydroxyacyl-CoA Dehydrogenase, Type 2, Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Hydroxyacyl-CoA Dehydrogenase, Type 2, Deficiency from the curated CTD Gene-Disease Associations dataset.

D-BIFUNCTIONAL PROTEIN DEFICIENCY Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease D-BIFUNCTIONAL PROTEIN DEFICIENCY from the curated CTD Gene-Disease Associations dataset.

FACTOR V AND FACTOR VIII, COMBINED DEFICIENCY OF, 2 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease FACTOR V AND FACTOR VIII, COMBINED DEFICIENCY OF, 2 from the curated CTD Gene-Disease Associations dataset.

Arginine:Glycine Amidinotransferase Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Arginine:Glycine Amidinotransferase Deficiency from the curated CTD Gene-Disease Associations dataset.

Biotinidase Deficiency Gene Set

From CTD Gene-Disease Associations

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

COMPLEMENT COMPONENT C1r/C1s DEFICIENCY Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease COMPLEMENT COMPONENT C1r/C1s DEFICIENCY from the curated CTD Gene-Disease Associations dataset.

Methionine Adenosyltransferase Deficiency Gene Set

From CTD Gene-Disease Associations

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

Phosphoenolpyruvate carboxykinase 2 deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Phosphoenolpyruvate carboxykinase 2 deficiency from the curated CTD Gene-Disease Associations dataset.