Defective SLC24A5 causes oculocutaneous albinism 6 (OCA6)

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Results for "Defective SLC24A5 causes oculocutaneous albinism 6 (OCA6)": 475 gene sets

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Defective SLC24A5 causes oculocutaneous albinism 6 (OCA6) Gene Set From Reactome Pathways 2024 proteins participating in the Defective SLC24A5 causes oculocutaneous albinism 6 (OCA6) pathway from the Reactome Pathways 2024 dataset.
Tyrosinase-negative oculocutaneous albinism Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Tyrosinase-negative oculocutaneous albinism phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Tyrosinase-positive oculocutaneous albinism Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Tyrosinase-positive oculocutaneous albinism phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Oculocutaneous albinism type 7 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Oculocutaneous albinism type 7 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Oculocutaneous albinism type 3 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Oculocutaneous albinism type 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Oculocutaneous albinism type 4 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Oculocutaneous albinism type 4 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Oculocutaneous albinism type 1B Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Oculocutaneous albinism type 1B from the curated CTD Gene-Disease Associations dataset.
Albinism, Oculocutaneous Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Albinism, Oculocutaneous from the curated CTD Gene-Disease Associations dataset.
Oculocutaneous Albinism, Type IV Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Oculocutaneous Albinism, Type IV from the curated CTD Gene-Disease Associations dataset.
Oculocutaneous albinism type 2 Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Oculocutaneous albinism type 2 from the curated CTD Gene-Disease Associations dataset.
Oculocutaneous albinism type 3 Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Oculocutaneous albinism type 3 from the curated CTD Gene-Disease Associations dataset.
Oculocutaneous albinism type 1 Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Oculocutaneous albinism type 1 from the curated CTD Gene-Disease Associations dataset.
oculocutaneous albinism Gene Set From DISEASES Curated Gene-Disease Association Evidence Scores genes involed in the disease oculocutaneous albinism from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.
oculocutaneous albinism Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease oculocutaneous albinism in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.
albinism, oculocutaneous Gene Set From GAD Gene-Disease Associations genes associated with the disease albinism, oculocutaneous in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
type ib (yellow) oculocutaneous albinism Gene Set From GAD Gene-Disease Associations genes associated with the disease type ib (yellow) oculocutaneous albinism in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
oculocutaneous albinism Gene Set From GAD Gene-Disease Associations genes associated with the disease oculocutaneous albinism in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
oculocutaneous albinism type 4 Gene Set From GAD Gene-Disease Associations genes associated with the disease oculocutaneous albinism type 4 in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
oculocutaneous albinism type 2 Gene Set From GAD Gene-Disease Associations genes associated with the disease oculocutaneous albinism type 2 in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
type i-a (tyrosinase-negative) oculocutaneous albinism Gene Set From GAD Gene-Disease Associations genes associated with the disease type i-a (tyrosinase-negative) oculocutaneous albinism in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
Albinism, Oculocutaneous Gene Set From HuGE Navigator Gene-Phenotype Associations genes associated with the Albinism, Oculocutaneous phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset.
{albinism, oculocutaneous, type ii, modifier of} Gene Set From OMIM Gene-Disease Associations genes associated with the {albinism, oculocutaneous, type ii, modifier of} phenotype from the curated OMIM Gene-Disease Associations dataset.
albinism, oculocutaneous, type vii Gene Set From OMIM Gene-Disease Associations genes associated with the albinism, oculocutaneous, type vii phenotype from the curated OMIM Gene-Disease Associations dataset.
albinism, oculocutaneous, type iv Gene Set From OMIM Gene-Disease Associations genes associated with the albinism, oculocutaneous, type iv phenotype from the curated OMIM Gene-Disease Associations dataset.
albinism, oculocutaneous, type ia Gene Set From OMIM Gene-Disease Associations genes associated with the albinism, oculocutaneous, type ia phenotype from the curated OMIM Gene-Disease Associations dataset.
albinism, oculocutaneous, type ii Gene Set From OMIM Gene-Disease Associations genes associated with the albinism, oculocutaneous, type ii phenotype from the curated OMIM Gene-Disease Associations dataset.
albinism, oculocutaneous, type v Gene Set From OMIM Gene-Disease Associations genes associated with the albinism, oculocutaneous, type v phenotype from the curated OMIM Gene-Disease Associations dataset.
albinism, oculocutaneous, type ib Gene Set From OMIM Gene-Disease Associations genes associated with the albinism, oculocutaneous, type ib phenotype from the curated OMIM Gene-Disease Associations dataset.
albinism, brown oculocutaneous Gene Set From OMIM Gene-Disease Associations genes associated with the albinism, brown oculocutaneous phenotype from the curated OMIM Gene-Disease Associations dataset.
albinism, oculocutaneous, type vi Gene Set From OMIM Gene-Disease Associations genes associated with the albinism, oculocutaneous, type vi phenotype from the curated OMIM Gene-Disease Associations dataset.
albinism, oculocutaneous, type iii Gene Set From OMIM Gene-Disease Associations genes associated with the albinism, oculocutaneous, type iii phenotype from the curated OMIM Gene-Disease Associations dataset.
Oculocutaneous Albinism Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Oculocutaneous Albinism in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Albinism, Oculocutaneous Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Albinism, Oculocutaneous in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Brown Oculocutaneous Albinism Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Brown Oculocutaneous Albinism in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Autosomal Dominant Oculocutaneous Albinism Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Autosomal Dominant Oculocutaneous Albinism in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Yellow Mutant Oculocutaneous Albinism Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Yellow Mutant Oculocutaneous Albinism in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Oculocutaneous Albinism, Type Ii, Modifier Of Gene Set From DisGeNET Gene-Phenotype Associations genes associated with the phenotype Oculocutaneous Albinism, Type Ii, Modifier Of in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.
Oculocutaneous albinism Gene Set From DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Oculocutaneous albinism from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset.
Oculocutaneous albinism Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Oculocutaneous albinism in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Oculocutaneous albinism type IA Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Oculocutaneous albinism type IA in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Oculocutaneous albinism type II Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Oculocutaneous albinism type II in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Oculocutaneous albinism type III Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Oculocutaneous albinism type III in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Oculocutaneous albinism type IV Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Oculocutaneous albinism type IV in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Oculocutaneous albinism type IB Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Oculocutaneous albinism type IB in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Tyrosinase-positive oculocutaneous albinism Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Tyrosinase-positive oculocutaneous albinism phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Oculocutaneous albinism Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Oculocutaneous albinism phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Nonsyndromic Oculocutaneous Albinism Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Nonsyndromic Oculocutaneous Albinism phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Temperature-sensitive oculocutaneous albinism Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Temperature-sensitive oculocutaneous albinism phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
slc24a5 Gene Set From GeneRIF Biological Term Annotations genes co-occuring with the biological term slc24a5 in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset.
SLC24A5 Gene Set From Pathway Commons Protein-Protein Interactions interacting proteins for SLC24A5 from the Pathway Commons Protein-Protein Interactions dataset.
Defective PAPSS2 causes SEMD-PA Gene Set From Reactome Pathways 2014 proteins participating in the Defective PAPSS2 causes SEMD-PA pathway from the Reactome Pathways dataset.
Defective FMO3 causes Trimethylaminuria (TMAU) Gene Set From Reactome Pathways 2014 proteins participating in the Defective FMO3 causes Trimethylaminuria (TMAU) pathway from the Reactome Pathways dataset.
Defective MAOA causes Brunner syndrome (BRUNS) Gene Set From Reactome Pathways 2014 proteins participating in the Defective MAOA causes Brunner syndrome (BRUNS) pathway from the Reactome Pathways dataset.
Defective CYP21A2 causes Adrenal hyperplasia 3 (AH3) Gene Set From Reactome Pathways 2014 proteins participating in the Defective CYP21A2 causes Adrenal hyperplasia 3 (AH3) pathway from the Reactome Pathways dataset.
Defective ALG8 causes ALG8-CDG (CDG-1h) Gene Set From Reactome Pathways 2014 proteins participating in the Defective ALG8 causes ALG8-CDG (CDG-1h) pathway from the Reactome Pathways dataset.
Defective MGAT2 causes MGAT2-CDG (CDG-2a) Gene Set From Reactome Pathways 2014 proteins participating in the Defective MGAT2 causes MGAT2-CDG (CDG-2a) pathway from the Reactome Pathways dataset.
Defective CYP26B1 causes Radiohumeral fusions with other skeletal and craniofacial anomalies (RHFCA) Gene Set From Reactome Pathways 2014 proteins participating in the Defective CYP26B1 causes Radiohumeral fusions with other skeletal and craniofacial anomalies (RHFCA) pathway from the Reactome Pathways dataset.
Defective MMACHC causes methylmalonic aciduria and homocystinuria type cblC Gene Set From Reactome Pathways 2014 proteins participating in the Defective MMACHC causes methylmalonic aciduria and homocystinuria type cblC pathway from the Reactome Pathways dataset.
Defective MMAB causes methylmalonic aciduria type cblB Gene Set From Reactome Pathways 2014 proteins participating in the Defective MMAB causes methylmalonic aciduria type cblB pathway from the Reactome Pathways dataset.
Defective CYP24A1 causes Hypercalcemia, infantile (HCAI) Gene Set From Reactome Pathways 2014 proteins participating in the Defective CYP24A1 causes Hypercalcemia, infantile (HCAI) pathway from the Reactome Pathways dataset.
Defective TBXAS1 causes Ghosal hematodiaphyseal dysplasia (GHDD) Gene Set From Reactome Pathways 2014 proteins participating in the Defective TBXAS1 causes Ghosal hematodiaphyseal dysplasia (GHDD) pathway from the Reactome Pathways dataset.
Defective CYP19A1 causes Aromatase excess syndrome (AEXS) Gene Set From Reactome Pathways 2014 proteins participating in the Defective CYP19A1 causes Aromatase excess syndrome (AEXS) pathway from the Reactome Pathways dataset.
Defective ACY1 causes encephalopathy Gene Set From Reactome Pathways 2014 proteins participating in the Defective ACY1 causes encephalopathy pathway from the Reactome Pathways dataset.
Defective CYP1B1 causes Glaucoma Gene Set From Reactome Pathways 2014 proteins participating in the Defective CYP1B1 causes Glaucoma pathway from the Reactome Pathways dataset.
Defective CYP2R1 causes Rickets vitamin D-dependent 1B (VDDR1B) Gene Set From Reactome Pathways 2014 proteins participating in the Defective CYP2R1 causes Rickets vitamin D-dependent 1B (VDDR1B) pathway from the Reactome Pathways dataset.
Defective AMN causes hereditary megaloblastic anemia 1 Gene Set From Reactome Pathways 2014 proteins participating in the Defective AMN causes hereditary megaloblastic anemia 1 pathway from the Reactome Pathways dataset.
Defective RFT1 causes RFT1-CDG (CDG-1n) Gene Set From Reactome Pathways 2014 proteins participating in the Defective RFT1 causes RFT1-CDG (CDG-1n) pathway from the Reactome Pathways dataset.
Defective ALG6 causes ALG6-CDG (CDG-1c) Gene Set From Reactome Pathways 2014 proteins participating in the Defective ALG6 causes ALG6-CDG (CDG-1c) pathway from the Reactome Pathways dataset.
Defective MMAA causes methylmalonic aciduria type cblA Gene Set From Reactome Pathways 2014 proteins participating in the Defective MMAA causes methylmalonic aciduria type cblA pathway from the Reactome Pathways dataset.
Defective CHSY1 causes TPBS Gene Set From Reactome Pathways 2014 proteins participating in the Defective CHSY1 causes TPBS pathway from the Reactome Pathways dataset.
Defective EXT2 causes exostoses 2 Gene Set From Reactome Pathways 2014 proteins participating in the Defective EXT2 causes exostoses 2 pathway from the Reactome Pathways dataset.
Defective B3GAT3 causes JDSSDHD Gene Set From Reactome Pathways 2014 proteins participating in the Defective B3GAT3 causes JDSSDHD pathway from the Reactome Pathways dataset.
Defective LMBRD1 causes methylmalonic aciduria and homocystinuria type cblF Gene Set From Reactome Pathways 2014 proteins participating in the Defective LMBRD1 causes methylmalonic aciduria and homocystinuria type cblF pathway from the Reactome Pathways dataset.
Defective ALG9 causes ALG9-CDG (CDG-1l) Gene Set From Reactome Pathways 2014 proteins participating in the Defective ALG9 causes ALG9-CDG (CDG-1l) pathway from the Reactome Pathways dataset.
Defective CYP27A1 causes Cerebrotendinous xanthomatosis (CTX) Gene Set From Reactome Pathways 2014 proteins participating in the Defective CYP27A1 causes Cerebrotendinous xanthomatosis (CTX) pathway from the Reactome Pathways dataset.
Defective MTR causes methylmalonic aciduria and homocystinuria type cblG Gene Set From Reactome Pathways 2014 proteins participating in the Defective MTR causes methylmalonic aciduria and homocystinuria type cblG pathway from the Reactome Pathways dataset.
Defective GGT1 causes Glutathionuria (GLUTH) Gene Set From Reactome Pathways 2014 proteins participating in the Defective GGT1 causes Glutathionuria (GLUTH) pathway from the Reactome Pathways dataset.
Defective CYP7B1 causes Spastic paraplegia 5A, autosomal recessive (SPG5A) and Congenital bile acid synthesis defect 3 (CBAS3) Gene Set From Reactome Pathways 2014 proteins participating in the Defective CYP7B1 causes Spastic paraplegia 5A, autosomal recessive (SPG5A) and Congenital bile acid synthesis defect 3 (CBAS3) pathway from the Reactome Pathways dataset.
Defective ALG1 causes ALG1-CDG (CDG-1k) Gene Set From Reactome Pathways 2014 proteins participating in the Defective ALG1 causes ALG1-CDG (CDG-1k) pathway from the Reactome Pathways dataset.
Defective GCLC causes Hemolytic anemia due to gamma-glutamylcysteine synthetase deficiency (HAGGSD) Gene Set From Reactome Pathways 2014 proteins participating in the Defective GCLC causes Hemolytic anemia due to gamma-glutamylcysteine synthetase deficiency (HAGGSD) pathway from the Reactome Pathways dataset.
Defective MMADHC causes methylmalonic aciduria and homocystinuria type cblD Gene Set From Reactome Pathways 2014 proteins participating in the Defective MMADHC causes methylmalonic aciduria and homocystinuria type cblD pathway from the Reactome Pathways dataset.
Defective OPLAH causes 5-oxoprolinase deficiency (OPLAHD) Gene Set From Reactome Pathways 2014 proteins participating in the Defective OPLAH causes 5-oxoprolinase deficiency (OPLAHD) pathway from the Reactome Pathways dataset.
Defective ALG14 causes congenital myasthenic syndrome (ALG14-CMS) Gene Set From Reactome Pathways 2014 proteins participating in the Defective ALG14 causes congenital myasthenic syndrome (ALG14-CMS) pathway from the Reactome Pathways dataset.
Defective MAT1A causes Methionine adenosyltransferase deficiency (MATD) Gene Set From Reactome Pathways 2014 proteins participating in the Defective MAT1A causes Methionine adenosyltransferase deficiency (MATD) pathway from the Reactome Pathways dataset.
Defective CYP27B1 causes Rickets vitamin D-dependent 1A (VDDR1A) Gene Set From Reactome Pathways 2014 proteins participating in the Defective CYP27B1 causes Rickets vitamin D-dependent 1A (VDDR1A) pathway from the Reactome Pathways dataset.
Defective EXT1 causes exostoses 1, TRPS2 and CHDS Gene Set From Reactome Pathways 2014 proteins participating in the Defective EXT1 causes exostoses 1, TRPS2 and CHDS pathway from the Reactome Pathways dataset.
Defective MPDU1 causes MPDU1-CDG (CDG-1f) Gene Set From Reactome Pathways 2014 proteins participating in the Defective MPDU1 causes MPDU1-CDG (CDG-1f) pathway from the Reactome Pathways dataset.
Defective CYP17A1 causes Adrenal hyperplasia 5 (AH5) Gene Set From Reactome Pathways 2014 proteins participating in the Defective CYP17A1 causes Adrenal hyperplasia 5 (AH5) pathway from the Reactome Pathways dataset.
Defective CUBN causes hereditary megaloblastic anemia 1 Gene Set From Reactome Pathways 2014 proteins participating in the Defective CUBN causes hereditary megaloblastic anemia 1 pathway from the Reactome Pathways dataset.
Defective GIF causes intrinsic factor deficiency Gene Set From Reactome Pathways 2014 proteins participating in the Defective GIF causes intrinsic factor deficiency pathway from the Reactome Pathways dataset.
Defective UGT1A4 causes hyperbilirubinemia Gene Set From Reactome Pathways 2014 proteins participating in the Defective UGT1A4 causes hyperbilirubinemia pathway from the Reactome Pathways dataset.
Defective B4GALT1 causes B4GALT1-CDG (CDG-2d) Gene Set From Reactome Pathways 2014 proteins participating in the Defective B4GALT1 causes B4GALT1-CDG (CDG-2d) pathway from the Reactome Pathways dataset.
Defective CYP2U1 causes Spastic paraplegia 56, autosomal recessive (SPG56) Gene Set From Reactome Pathways 2014 proteins participating in the Defective CYP2U1 causes Spastic paraplegia 56, autosomal recessive (SPG56) pathway from the Reactome Pathways dataset.
Defective ALG11 causes ALG11-CDG (CDG-1p) Gene Set From Reactome Pathways 2014 proteins participating in the Defective ALG11 causes ALG11-CDG (CDG-1p) pathway from the Reactome Pathways dataset.
Defective SLC26A2 causes chondrodysplasias Gene Set From Reactome Pathways 2014 proteins participating in the Defective SLC26A2 causes chondrodysplasias pathway from the Reactome Pathways dataset.
Defective MTRR causes methylmalonic aciduria and homocystinuria type cblE Gene Set From Reactome Pathways 2014 proteins participating in the Defective MTRR causes methylmalonic aciduria and homocystinuria type cblE pathway from the Reactome Pathways dataset.
Defective CYP11A1 causes Adrenal insufficiency, congenital, with 46,XY sex reversal (AICSR) Gene Set From Reactome Pathways 2014 proteins participating in the Defective CYP11A1 causes Adrenal insufficiency, congenital, with 46,XY sex reversal (AICSR) pathway from the Reactome Pathways dataset.
Defective TCN2 causes hereditary megaloblastic anemia Gene Set From Reactome Pathways 2014 proteins participating in the Defective TCN2 causes hereditary megaloblastic anemia pathway from the Reactome Pathways dataset.
Defective GSS causes Glutathione synthetase deficiency (GSS deficiency) Gene Set From Reactome Pathways 2014 proteins participating in the Defective GSS causes Glutathione synthetase deficiency (GSS deficiency) pathway from the Reactome Pathways dataset.
Defective MUT causes methylmalonic aciduria mut type Gene Set From Reactome Pathways 2014 proteins participating in the Defective MUT causes methylmalonic aciduria mut type pathway from the Reactome Pathways dataset.
Defective MAN1B1 causes MRT15 Gene Set From Reactome Pathways 2014 proteins participating in the Defective MAN1B1 causes MRT15 pathway from the Reactome Pathways dataset.
Defective CHST6 causes MCDC1 Gene Set From Reactome Pathways 2014 proteins participating in the Defective CHST6 causes MCDC1 pathway from the Reactome Pathways dataset.
Defective ALG2 causes ALG2-CDG (CDG-1i) Gene Set From Reactome Pathways 2014 proteins participating in the Defective ALG2 causes ALG2-CDG (CDG-1i) pathway from the Reactome Pathways dataset.
Defective CYP4F22 causes Ichthyosis, congenital, autosomal recessive 5 (ARCI5) Gene Set From Reactome Pathways 2014 proteins participating in the Defective CYP4F22 causes Ichthyosis, congenital, autosomal recessive 5 (ARCI5) pathway from the Reactome Pathways dataset.
Defective CYP11B2 causes Corticosterone methyloxidase 1 deficiency (CMO-1 deficiency) Gene Set From Reactome Pathways 2014 proteins participating in the Defective CYP11B2 causes Corticosterone methyloxidase 1 deficiency (CMO-1 deficiency) pathway from the Reactome Pathways dataset.
Defective CHST14 causes EDS, musculocontractural type Gene Set From Reactome Pathways 2014 proteins participating in the Defective CHST14 causes EDS, musculocontractural type pathway from the Reactome Pathways dataset.
Defective AHCY causes Hypermethioninemia with S-adenosylhomocysteine hydrolase deficiency (HMAHCHD) Gene Set From Reactome Pathways 2014 proteins participating in the Defective AHCY causes Hypermethioninemia with S-adenosylhomocysteine hydrolase deficiency (HMAHCHD) pathway from the Reactome Pathways dataset.
Defective CD320 causes methylmalonic aciduria Gene Set From Reactome Pathways 2014 proteins participating in the Defective CD320 causes methylmalonic aciduria pathway from the Reactome Pathways dataset.
Defective ACTH causes Obesity and Pro-opiomelanocortinin deficiency (POMCD) Gene Set From Reactome Pathways 2014 proteins participating in the Defective ACTH causes Obesity and Pro-opiomelanocortinin deficiency (POMCD) pathway from the Reactome Pathways dataset.
Defective ALG12 causes ALG12-CDG (CDG-1g) Gene Set From Reactome Pathways 2014 proteins participating in the Defective ALG12 causes ALG12-CDG (CDG-1g) pathway from the Reactome Pathways dataset.
Defective CYP26C1 causes Focal facial dermal dysplasia 4 (FFDD4) Gene Set From Reactome Pathways 2014 proteins participating in the Defective CYP26C1 causes Focal facial dermal dysplasia 4 (FFDD4) pathway from the Reactome Pathways dataset.
Defective UGT1A1 causes hyperbilirubinemia Gene Set From Reactome Pathways 2014 proteins participating in the Defective UGT1A1 causes hyperbilirubinemia pathway from the Reactome Pathways dataset.
Defective ALG3 causes ALG3-CDG (CDG-1d) Gene Set From Reactome Pathways 2014 proteins participating in the Defective ALG3 causes ALG3-CDG (CDG-1d) pathway from the Reactome Pathways dataset.
Defective TPMT causes Thiopurine S-methyltransferase deficiency (TPMT deficiency) Gene Set From Reactome Pathways 2014 proteins participating in the Defective TPMT causes Thiopurine S-methyltransferase deficiency (TPMT deficiency) pathway from the Reactome Pathways dataset.
Defective CHST3 causes SEDCJD Gene Set From Reactome Pathways 2014 proteins participating in the Defective CHST3 causes SEDCJD pathway from the Reactome Pathways dataset.
Defective BTD causes biotidinase deficiency Gene Set From Reactome Pathways 2014 proteins participating in the Defective BTD causes biotidinase deficiency pathway from the Reactome Pathways dataset.
Defective B4GALT7 causes EDS, progeroid type Gene Set From Reactome Pathways 2014 proteins participating in the Defective B4GALT7 causes EDS, progeroid type pathway from the Reactome Pathways dataset.
Defective MOGS causes MOGS-CDG (CDG-2b) Gene Set From Reactome Pathways 2014 proteins participating in the Defective MOGS causes MOGS-CDG (CDG-2b) pathway from the Reactome Pathways dataset.
Defective SLC35D1 causes Schneckenbecken dysplasia (SCHBCKD) Gene Set From Reactome Pathways 2014 proteins participating in the Defective SLC35D1 causes Schneckenbecken dysplasia (SCHBCKD) pathway from the Reactome Pathways dataset.
Defective HLCS causes multiple carboxylase deficiency Gene Set From Reactome Pathways 2014 proteins participating in the Defective HLCS causes multiple carboxylase deficiency pathway from the Reactome Pathways dataset.
Defective DPAGT1 causes DPAGT1-CDG (CDG-1j) and CMSTA2 Gene Set From Reactome Pathways 2014 proteins participating in the Defective DPAGT1 causes DPAGT1-CDG (CDG-1j) and CMSTA2 pathway from the Reactome Pathways dataset.
Defective CYP11B1 causes Adrenal hyperplasia 4 (AH4) Gene Set From Reactome Pathways 2014 proteins participating in the Defective CYP11B1 causes Adrenal hyperplasia 4 (AH4) pathway from the Reactome Pathways dataset.
Defective ABCA1 causes TGD Gene Set From Reactome Pathways 2024 proteins participating in the Defective ABCA1 causes TGD pathway from the Reactome Pathways 2024 dataset.
Defective ABCA12 causes ARCI4B Gene Set From Reactome Pathways 2024 proteins participating in the Defective ABCA12 causes ARCI4B pathway from the Reactome Pathways 2024 dataset.
Defective ABCA3 causes SMDP3_5683678 Gene Set From Reactome Pathways 2024 proteins participating in the Defective ABCA3 causes SMDP3_5683678 pathway from the Reactome Pathways 2024 dataset.
Defective ABCA3 causes SMDP3_5688399 Gene Set From Reactome Pathways 2024 proteins participating in the Defective ABCA3 causes SMDP3_5688399 pathway from the Reactome Pathways 2024 dataset.
Defective ABCB11 causes PFIC2 and BRIC2 Gene Set From Reactome Pathways 2024 proteins participating in the Defective ABCB11 causes PFIC2 and BRIC2 pathway from the Reactome Pathways 2024 dataset.
Defective ABCB4 causes PFIC3, ICP3 and GBD1 Gene Set From Reactome Pathways 2024 proteins participating in the Defective ABCB4 causes PFIC3, ICP3 and GBD1 pathway from the Reactome Pathways 2024 dataset.
Defective ABCB6 causes MCOPCB7 Gene Set From Reactome Pathways 2024 proteins participating in the Defective ABCB6 causes MCOPCB7 pathway from the Reactome Pathways 2024 dataset.
Defective ABCC2 causes DJS Gene Set From Reactome Pathways 2024 proteins participating in the Defective ABCC2 causes DJS pathway from the Reactome Pathways 2024 dataset.
Defective ABCC6 causes PXE Gene Set From Reactome Pathways 2024 proteins participating in the Defective ABCC6 causes PXE pathway from the Reactome Pathways 2024 dataset.
Defective ABCC9 causes CMD10, ATFB12 and Cantu syndrome Gene Set From Reactome Pathways 2024 proteins participating in the Defective ABCC9 causes CMD10, ATFB12 and Cantu syndrome pathway from the Reactome Pathways 2024 dataset.
Defective ABCD1 causes ALD Gene Set From Reactome Pathways 2024 proteins participating in the Defective ABCD1 causes ALD pathway from the Reactome Pathways 2024 dataset.
Defective ABCD4 causes MAHCJ Gene Set From Reactome Pathways 2024 proteins participating in the Defective ABCD4 causes MAHCJ pathway from the Reactome Pathways 2024 dataset.
Defective ABCG5 causes sitosterolemia Gene Set From Reactome Pathways 2024 proteins participating in the Defective ABCG5 causes sitosterolemia pathway from the Reactome Pathways 2024 dataset.
Defective ABCG8 causes GBD4 and sitosterolemia Gene Set From Reactome Pathways 2024 proteins participating in the Defective ABCG8 causes GBD4 and sitosterolemia pathway from the Reactome Pathways 2024 dataset.
Defective ACTH causes obesity and POMCD Gene Set From Reactome Pathways 2024 proteins participating in the Defective ACTH causes obesity and POMCD pathway from the Reactome Pathways 2024 dataset.
Defective ACY1 causes encephalopathy Gene Set From Reactome Pathways 2024 proteins participating in the Defective ACY1 causes encephalopathy pathway from the Reactome Pathways 2024 dataset.
Defective AHCY causes HMAHCHD Gene Set From Reactome Pathways 2024 proteins participating in the Defective AHCY causes HMAHCHD pathway from the Reactome Pathways 2024 dataset.
Defective ALG1 causes CDG-1k Gene Set From Reactome Pathways 2024 proteins participating in the Defective ALG1 causes CDG-1k pathway from the Reactome Pathways 2024 dataset.
Defective ALG11 causes CDG-1p Gene Set From Reactome Pathways 2024 proteins participating in the Defective ALG11 causes CDG-1p pathway from the Reactome Pathways 2024 dataset.
Defective ALG12 causes CDG-1g Gene Set From Reactome Pathways 2024 proteins participating in the Defective ALG12 causes CDG-1g pathway from the Reactome Pathways 2024 dataset.
Defective ALG14 causes ALG14-CMS Gene Set From Reactome Pathways 2024 proteins participating in the Defective ALG14 causes ALG14-CMS pathway from the Reactome Pathways 2024 dataset.
Defective ALG2 causes CDG-1i Gene Set From Reactome Pathways 2024 proteins participating in the Defective ALG2 causes CDG-1i pathway from the Reactome Pathways 2024 dataset.
Defective ALG3 causes CDG-1d Gene Set From Reactome Pathways 2024 proteins participating in the Defective ALG3 causes CDG-1d pathway from the Reactome Pathways 2024 dataset.
Defective ALG6 causes CDG-1c Gene Set From Reactome Pathways 2024 proteins participating in the Defective ALG6 causes CDG-1c pathway from the Reactome Pathways 2024 dataset.
Defective ALG8 causes CDG-1h Gene Set From Reactome Pathways 2024 proteins participating in the Defective ALG8 causes CDG-1h pathway from the Reactome Pathways 2024 dataset.
Defective ALG9 causes CDG-1l Gene Set From Reactome Pathways 2024 proteins participating in the Defective ALG9 causes CDG-1l pathway from the Reactome Pathways 2024 dataset.
Defective AMN causes MGA1 Gene Set From Reactome Pathways 2024 proteins participating in the Defective AMN causes MGA1 pathway from the Reactome Pathways 2024 dataset.
Defective AVP does not bind AVPR1A,B and causes neurohypophyseal diabetes insipidus (NDI) Gene Set From Reactome Pathways 2024 proteins participating in the Defective AVP does not bind AVPR1A,B and causes neurohypophyseal diabetes insipidus (NDI) pathway from the Reactome Pathways 2024 dataset.
Defective AVP does not bind AVPR2 and causes neurohypophyseal diabetes insipidus (NDI) Gene Set From Reactome Pathways 2024 proteins participating in the Defective AVP does not bind AVPR2 and causes neurohypophyseal diabetes insipidus (NDI) pathway from the Reactome Pathways 2024 dataset.
Defective B3GALT6 causes EDSP2 and SEMDJL1 Gene Set From Reactome Pathways 2024 proteins participating in the Defective B3GALT6 causes EDSP2 and SEMDJL1 pathway from the Reactome Pathways 2024 dataset.
Defective B3GALTL causes PpS Gene Set From Reactome Pathways 2024 proteins participating in the Defective B3GALTL causes PpS pathway from the Reactome Pathways 2024 dataset.
Defective B3GAT3 causes JDSSDHD Gene Set From Reactome Pathways 2024 proteins participating in the Defective B3GAT3 causes JDSSDHD pathway from the Reactome Pathways 2024 dataset.
Defective B4GALT1 causes B4GALT1-CDG (CDG-2d) Gene Set From Reactome Pathways 2024 proteins participating in the Defective B4GALT1 causes B4GALT1-CDG (CDG-2d) pathway from the Reactome Pathways 2024 dataset.
Defective B4GALT1 causes CDG-2d Gene Set From Reactome Pathways 2024 proteins participating in the Defective B4GALT1 causes CDG-2d pathway from the Reactome Pathways 2024 dataset.
Defective B4GALT7 causes EDS, progeroid type Gene Set From Reactome Pathways 2024 proteins participating in the Defective B4GALT7 causes EDS, progeroid type pathway from the Reactome Pathways 2024 dataset.
Defective BTD causes biotidinase deficiency Gene Set From Reactome Pathways 2024 proteins participating in the Defective BTD causes biotidinase deficiency pathway from the Reactome Pathways 2024 dataset.
Defective C1GALT1C1 causes TNPS Gene Set From Reactome Pathways 2024 proteins participating in the Defective C1GALT1C1 causes TNPS pathway from the Reactome Pathways 2024 dataset.
Defective CBLIF causes IFD Gene Set From Reactome Pathways 2024 proteins participating in the Defective CBLIF causes IFD pathway from the Reactome Pathways 2024 dataset.
Defective CD320 causes MMATC Gene Set From Reactome Pathways 2024 proteins participating in the Defective CD320 causes MMATC pathway from the Reactome Pathways 2024 dataset.
Defective CFTR causes cystic fibrosis Gene Set From Reactome Pathways 2024 proteins participating in the Defective CFTR causes cystic fibrosis pathway from the Reactome Pathways 2024 dataset.
Defective CHST14 causes EDS, musculocontractural type Gene Set From Reactome Pathways 2024 proteins participating in the Defective CHST14 causes EDS, musculocontractural type pathway from the Reactome Pathways 2024 dataset.
Defective CHST3 causes SEDCJD Gene Set From Reactome Pathways 2024 proteins participating in the Defective CHST3 causes SEDCJD pathway from the Reactome Pathways 2024 dataset.
Defective CHST6 causes MCDC1 Gene Set From Reactome Pathways 2024 proteins participating in the Defective CHST6 causes MCDC1 pathway from the Reactome Pathways 2024 dataset.
Defective CHSY1 causes TPBS Gene Set From Reactome Pathways 2024 proteins participating in the Defective CHSY1 causes TPBS pathway from the Reactome Pathways 2024 dataset.
Defective CP causes aceruloplasminemia (ACERULOP) Gene Set From Reactome Pathways 2024 proteins participating in the Defective CP causes aceruloplasminemia (ACERULOP) pathway from the Reactome Pathways 2024 dataset.
Defective CSF2RA causes SMDP4 Gene Set From Reactome Pathways 2024 proteins participating in the Defective CSF2RA causes SMDP4 pathway from the Reactome Pathways 2024 dataset.
Defective CSF2RB causes SMDP5 Gene Set From Reactome Pathways 2024 proteins participating in the Defective CSF2RB causes SMDP5 pathway from the Reactome Pathways 2024 dataset.
Defective CUBN causes MGA1 Gene Set From Reactome Pathways 2024 proteins participating in the Defective CUBN causes MGA1 pathway from the Reactome Pathways 2024 dataset.
Defective CYP11A1 causes AICSR Gene Set From Reactome Pathways 2024 proteins participating in the Defective CYP11A1 causes AICSR pathway from the Reactome Pathways 2024 dataset.
Defective CYP11B1 causes AH4 Gene Set From Reactome Pathways 2024 proteins participating in the Defective CYP11B1 causes AH4 pathway from the Reactome Pathways 2024 dataset.
Defective CYP11B2 causes CMO-1 deficiency Gene Set From Reactome Pathways 2024 proteins participating in the Defective CYP11B2 causes CMO-1 deficiency pathway from the Reactome Pathways 2024 dataset.
Defective CYP17A1 causes AH5 Gene Set From Reactome Pathways 2024 proteins participating in the Defective CYP17A1 causes AH5 pathway from the Reactome Pathways 2024 dataset.
Defective CYP19A1 causes AEXS Gene Set From Reactome Pathways 2024 proteins participating in the Defective CYP19A1 causes AEXS pathway from the Reactome Pathways 2024 dataset.
Defective CYP1B1 causes Glaucoma Gene Set From Reactome Pathways 2024 proteins participating in the Defective CYP1B1 causes Glaucoma pathway from the Reactome Pathways 2024 dataset.
Defective CYP21A2 causes AH3 Gene Set From Reactome Pathways 2024 proteins participating in the Defective CYP21A2 causes AH3 pathway from the Reactome Pathways 2024 dataset.
Defective CYP24A1 causes HCAI Gene Set From Reactome Pathways 2024 proteins participating in the Defective CYP24A1 causes HCAI pathway from the Reactome Pathways 2024 dataset.
Defective CYP26B1 causes RHFCA Gene Set From Reactome Pathways 2024 proteins participating in the Defective CYP26B1 causes RHFCA pathway from the Reactome Pathways 2024 dataset.
Defective CYP26C1 causes FFDD4 Gene Set From Reactome Pathways 2024 proteins participating in the Defective CYP26C1 causes FFDD4 pathway from the Reactome Pathways 2024 dataset.
Defective CYP27A1 causes CTX Gene Set From Reactome Pathways 2024 proteins participating in the Defective CYP27A1 causes CTX pathway from the Reactome Pathways 2024 dataset.
Defective CYP27B1 causes VDDR1A Gene Set From Reactome Pathways 2024 proteins participating in the Defective CYP27B1 causes VDDR1A pathway from the Reactome Pathways 2024 dataset.
Defective CYP27B1 causes VDDR1B Gene Set From Reactome Pathways 2024 proteins participating in the Defective CYP27B1 causes VDDR1B pathway from the Reactome Pathways 2024 dataset.
Defective CYP2U1 causes SPG56 Gene Set From Reactome Pathways 2024 proteins participating in the Defective CYP2U1 causes SPG56 pathway from the Reactome Pathways 2024 dataset.
Defective CYP4F22 causes ARCI5 Gene Set From Reactome Pathways 2024 proteins participating in the Defective CYP4F22 causes ARCI5 pathway from the Reactome Pathways 2024 dataset.
Defective CYP7B1 causes SPG5A and CBAS3 Gene Set From Reactome Pathways 2024 proteins participating in the Defective CYP7B1 causes SPG5A and CBAS3 pathway from the Reactome Pathways 2024 dataset.
Defective DHDDS causes RP59 Gene Set From Reactome Pathways 2024 proteins participating in the Defective DHDDS causes RP59 pathway from the Reactome Pathways 2024 dataset.
Defective DOLK causes DOLK-CDG Gene Set From Reactome Pathways 2024 proteins participating in the Defective DOLK causes DOLK-CDG pathway from the Reactome Pathways 2024 dataset.
Defective DPAGT1 causes CDG-1j, CMSTA2 Gene Set From Reactome Pathways 2024 proteins participating in the Defective DPAGT1 causes CDG-1j, CMSTA2 pathway from the Reactome Pathways 2024 dataset.
Defective DPM1 causes DPM1-CDG Gene Set From Reactome Pathways 2024 proteins participating in the Defective DPM1 causes DPM1-CDG pathway from the Reactome Pathways 2024 dataset.
Defective DPM2 causes DPM2-CDG Gene Set From Reactome Pathways 2024 proteins participating in the Defective DPM2 causes DPM2-CDG pathway from the Reactome Pathways 2024 dataset.
Defective DPM3 causes DPM3-CDG Gene Set From Reactome Pathways 2024 proteins participating in the Defective DPM3 causes DPM3-CDG pathway from the Reactome Pathways 2024 dataset.
Defective EXT1 causes exostoses 1, TRPS2 and CHDS Gene Set From Reactome Pathways 2024 proteins participating in the Defective EXT1 causes exostoses 1, TRPS2 and CHDS pathway from the Reactome Pathways 2024 dataset.
Defective EXT2 causes exostoses 2 Gene Set From Reactome Pathways 2024 proteins participating in the Defective EXT2 causes exostoses 2 pathway from the Reactome Pathways 2024 dataset.
Defective FMO3 causes TMAU Gene Set From Reactome Pathways 2024 proteins participating in the Defective FMO3 causes TMAU pathway from the Reactome Pathways 2024 dataset.
Defective GALE causes EDG Gene Set From Reactome Pathways 2024 proteins participating in the Defective GALE causes EDG pathway from the Reactome Pathways 2024 dataset.
Defective GALK1 causes GALCT2 Gene Set From Reactome Pathways 2024 proteins participating in the Defective GALK1 causes GALCT2 pathway from the Reactome Pathways 2024 dataset.
Defective GALNT12 causes CRCS1 Gene Set From Reactome Pathways 2024 proteins participating in the Defective GALNT12 causes CRCS1 pathway from the Reactome Pathways 2024 dataset.
Defective GALNT3 causes HFTC Gene Set From Reactome Pathways 2024 proteins participating in the Defective GALNT3 causes HFTC pathway from the Reactome Pathways 2024 dataset.
Defective GCK causes maturity-onset diabetes of the young 2 (MODY2) Gene Set From Reactome Pathways 2024 proteins participating in the Defective GCK causes maturity-onset diabetes of the young 2 (MODY2) pathway from the Reactome Pathways 2024 dataset.
Defective GCLC causes HAGGSD Gene Set From Reactome Pathways 2024 proteins participating in the Defective GCLC causes HAGGSD pathway from the Reactome Pathways 2024 dataset.
Defective GFPT1 causes CMSTA1 Gene Set From Reactome Pathways 2024 proteins participating in the Defective GFPT1 causes CMSTA1 pathway from the Reactome Pathways 2024 dataset.
Defective GGT1 causes GLUTH Gene Set From Reactome Pathways 2024 proteins participating in the Defective GGT1 causes GLUTH pathway from the Reactome Pathways 2024 dataset.
Defective GGT1 in aflatoxin detoxification causes GLUTH Gene Set From Reactome Pathways 2024 proteins participating in the Defective GGT1 in aflatoxin detoxification causes GLUTH pathway from the Reactome Pathways 2024 dataset.
Defective GNE causes sialuria, NK and IBM2 Gene Set From Reactome Pathways 2024 proteins participating in the Defective GNE causes sialuria, NK and IBM2 pathway from the Reactome Pathways 2024 dataset.
Defective GSS causes GSS deficiency Gene Set From Reactome Pathways 2024 proteins participating in the Defective GSS causes GSS deficiency pathway from the Reactome Pathways 2024 dataset.
Defective HEXA causes GM2G1 Gene Set From Reactome Pathways 2024 proteins participating in the Defective HEXA causes GM2G1 pathway from the Reactome Pathways 2024 dataset.
Defective HEXB causes GM2G2 Gene Set From Reactome Pathways 2024 proteins participating in the Defective HEXB causes GM2G2 pathway from the Reactome Pathways 2024 dataset.
Defective HK1 causes hexokinase deficiency (HK deficiency) Gene Set From Reactome Pathways 2024 proteins participating in the Defective HK1 causes hexokinase deficiency (HK deficiency) pathway from the Reactome Pathways 2024 dataset.
Defective HLCS causes multiple carboxylase deficiency Gene Set From Reactome Pathways 2024 proteins participating in the Defective HLCS causes multiple carboxylase deficiency pathway from the Reactome Pathways 2024 dataset.
Defective LARGE causes MDDGA6 and MDDGB6 Gene Set From Reactome Pathways 2024 proteins participating in the Defective LARGE causes MDDGA6 and MDDGB6 pathway from the Reactome Pathways 2024 dataset.
Defective LFNG causes SCDO3 Gene Set From Reactome Pathways 2024 proteins participating in the Defective LFNG causes SCDO3 pathway from the Reactome Pathways 2024 dataset.
Defective MAN1B1 causes MRT15 Gene Set From Reactome Pathways 2024 proteins participating in the Defective MAN1B1 causes MRT15 pathway from the Reactome Pathways 2024 dataset.
Defective MAOA causes BRUNS Gene Set From Reactome Pathways 2024 proteins participating in the Defective MAOA causes BRUNS pathway from the Reactome Pathways 2024 dataset.
Defective MAT1A causes MATD Gene Set From Reactome Pathways 2024 proteins participating in the Defective MAT1A causes MATD pathway from the Reactome Pathways 2024 dataset.
Defective MGAT2 causes CDG-2a Gene Set From Reactome Pathways 2024 proteins participating in the Defective MGAT2 causes CDG-2a pathway from the Reactome Pathways 2024 dataset.
Defective MMAA causes MMA, cblA type Gene Set From Reactome Pathways 2024 proteins participating in the Defective MMAA causes MMA, cblA type pathway from the Reactome Pathways 2024 dataset.
Defective MMAB causes MMA, cblB type Gene Set From Reactome Pathways 2024 proteins participating in the Defective MMAB causes MMA, cblB type pathway from the Reactome Pathways 2024 dataset.
Defective MMACHC causes MAHCC Gene Set From Reactome Pathways 2024 proteins participating in the Defective MMACHC causes MAHCC pathway from the Reactome Pathways 2024 dataset.
Defective MMADHC causes MMAHCD Gene Set From Reactome Pathways 2024 proteins participating in the Defective MMADHC causes MMAHCD pathway from the Reactome Pathways 2024 dataset.
Defective MOGS causes CDG-2b Gene Set From Reactome Pathways 2024 proteins participating in the Defective MOGS causes CDG-2b pathway from the Reactome Pathways 2024 dataset.
Defective MPDU1 causes CDG-1f Gene Set From Reactome Pathways 2024 proteins participating in the Defective MPDU1 causes CDG-1f pathway from the Reactome Pathways 2024 dataset.
Defective MPI causes MPI-CDG Gene Set From Reactome Pathways 2024 proteins participating in the Defective MPI causes MPI-CDG pathway from the Reactome Pathways 2024 dataset.
Defective MTR causes HMAG Gene Set From Reactome Pathways 2024 proteins participating in the Defective MTR causes HMAG pathway from the Reactome Pathways 2024 dataset.
Defective MTRR causes HMAE Gene Set From Reactome Pathways 2024 proteins participating in the Defective MTRR causes HMAE pathway from the Reactome Pathways 2024 dataset.
Defective MUT causes MMAM Gene Set From Reactome Pathways 2024 proteins participating in the Defective MUT causes MMAM pathway from the Reactome Pathways 2024 dataset.
Defective NEU1 causes sialidosis Gene Set From Reactome Pathways 2024 proteins participating in the Defective NEU1 causes sialidosis pathway from the Reactome Pathways 2024 dataset.
Defective OPLAH causes OPLAHD Gene Set From Reactome Pathways 2024 proteins participating in the Defective OPLAH causes OPLAHD pathway from the Reactome Pathways 2024 dataset.
Defective PAPSS2 causes SEMD-PA Gene Set From Reactome Pathways 2024 proteins participating in the Defective PAPSS2 causes SEMD-PA pathway from the Reactome Pathways 2024 dataset.
Defective PGM1 causes PGM1-CDG Gene Set From Reactome Pathways 2024 proteins participating in the Defective PGM1 causes PGM1-CDG pathway from the Reactome Pathways 2024 dataset.
Defective PMM2 causes PMM2-CDG Gene Set From Reactome Pathways 2024 proteins participating in the Defective PMM2 causes PMM2-CDG pathway from the Reactome Pathways 2024 dataset.
Defective POMGNT1 causes MDDGA3, MDDGB3 and MDDGC3 Gene Set From Reactome Pathways 2024 proteins participating in the Defective POMGNT1 causes MDDGA3, MDDGB3 and MDDGC3 pathway from the Reactome Pathways 2024 dataset.
Defective POMT1 causes MDDGA1, MDDGB1 and MDDGC1 Gene Set From Reactome Pathways 2024 proteins participating in the Defective POMT1 causes MDDGA1, MDDGB1 and MDDGC1 pathway from the Reactome Pathways 2024 dataset.
Defective POMT2 causes MDDGA2, MDDGB2 and MDDGC2 Gene Set From Reactome Pathways 2024 proteins participating in the Defective POMT2 causes MDDGA2, MDDGB2 and MDDGC2 pathway from the Reactome Pathways 2024 dataset.
Defective RFT1 causes CDG-1n Gene Set From Reactome Pathways 2024 proteins participating in the Defective RFT1 causes CDG-1n pathway from the Reactome Pathways 2024 dataset.
Defective RHAG causes regulator type Rh-null hemolytic anemia (RHN) Gene Set From Reactome Pathways 2024 proteins participating in the Defective RHAG causes regulator type Rh-null hemolytic anemia (RHN) pathway from the Reactome Pathways 2024 dataset.
Defective SERPING1 causes hereditary angioedema Gene Set From Reactome Pathways 2024 proteins participating in the Defective SERPING1 causes hereditary angioedema pathway from the Reactome Pathways 2024 dataset.
Defective SFTPA2 causes IPF Gene Set From Reactome Pathways 2024 proteins participating in the Defective SFTPA2 causes IPF pathway from the Reactome Pathways 2024 dataset.
Defective SLC11A2 causes hypochromic microcytic anemia, with iron overload 1 (AHMIO1) Gene Set From Reactome Pathways 2024 proteins participating in the Defective SLC11A2 causes hypochromic microcytic anemia, with iron overload 1 (AHMIO1) pathway from the Reactome Pathways 2024 dataset.
Defective SLC12A1 causes Bartter syndrome 1 (BS1) Gene Set From Reactome Pathways 2024 proteins participating in the Defective SLC12A1 causes Bartter syndrome 1 (BS1) pathway from the Reactome Pathways 2024 dataset.
Defective SLC12A3 causes Gitelman syndrome (GS) Gene Set From Reactome Pathways 2024 proteins participating in the Defective SLC12A3 causes Gitelman syndrome (GS) pathway from the Reactome Pathways 2024 dataset.
Defective SLC12A6 causes agenesis of the corpus callosum, with peripheral neuropathy (ACCPN) Gene Set From Reactome Pathways 2024 proteins participating in the Defective SLC12A6 causes agenesis of the corpus callosum, with peripheral neuropathy (ACCPN) pathway from the Reactome Pathways 2024 dataset.
Defective SLC16A1 causes symptomatic deficiency in lactate transport (SDLT) Gene Set From Reactome Pathways 2024 proteins participating in the Defective SLC16A1 causes symptomatic deficiency in lactate transport (SDLT) pathway from the Reactome Pathways 2024 dataset.
Defective SLC17A5 causes Salla disease (SD) and ISSD Gene Set From Reactome Pathways 2024 proteins participating in the Defective SLC17A5 causes Salla disease (SD) and ISSD pathway from the Reactome Pathways 2024 dataset.
Defective SLC17A8 causes autosomal dominant deafness 25 (DFNA25) Gene Set From Reactome Pathways 2024 proteins participating in the Defective SLC17A8 causes autosomal dominant deafness 25 (DFNA25) pathway from the Reactome Pathways 2024 dataset.
Defective SLC1A3 causes episodic ataxia 6 (EA6) Gene Set From Reactome Pathways 2024 proteins participating in the Defective SLC1A3 causes episodic ataxia 6 (EA6) pathway from the Reactome Pathways 2024 dataset.
Defective SLC20A2 causes idiopathic basal ganglia calcification 1 (IBGC1) Gene Set From Reactome Pathways 2024 proteins participating in the Defective SLC20A2 causes idiopathic basal ganglia calcification 1 (IBGC1) pathway from the Reactome Pathways 2024 dataset.
Defective SLC22A12 causes renal hypouricemia 1 (RHUC1) Gene Set From Reactome Pathways 2024 proteins participating in the Defective SLC22A12 causes renal hypouricemia 1 (RHUC1) pathway from the Reactome Pathways 2024 dataset.
Defective SLC22A18 causes lung cancer (LNCR) and embryonal rhabdomyosarcoma 1 (RMSE1) Gene Set From Reactome Pathways 2024 proteins participating in the Defective SLC22A18 causes lung cancer (LNCR) and embryonal rhabdomyosarcoma 1 (RMSE1) pathway from the Reactome Pathways 2024 dataset.
Defective SLC22A5 causes systemic primary carnitine deficiency (CDSP) Gene Set From Reactome Pathways 2024 proteins participating in the Defective SLC22A5 causes systemic primary carnitine deficiency (CDSP) pathway from the Reactome Pathways 2024 dataset.
Defective SLC24A1 causes congenital stationary night blindness 1D (CSNB1D) Gene Set From Reactome Pathways 2024 proteins participating in the Defective SLC24A1 causes congenital stationary night blindness 1D (CSNB1D) pathway from the Reactome Pathways 2024 dataset.
Defective SLC24A4 causes hypomineralized amelogenesis imperfecta (AI) Gene Set From Reactome Pathways 2024 proteins participating in the Defective SLC24A4 causes hypomineralized amelogenesis imperfecta (AI) pathway from the Reactome Pathways 2024 dataset.
Defective SLC26A2 causes chondrodysplasias Gene Set From Reactome Pathways 2024 proteins participating in the Defective SLC26A2 causes chondrodysplasias pathway from the Reactome Pathways 2024 dataset.
Defective SLC26A3 causes congenital secretory chloride diarrhea 1 (DIAR1) Gene Set From Reactome Pathways 2024 proteins participating in the Defective SLC26A3 causes congenital secretory chloride diarrhea 1 (DIAR1) pathway from the Reactome Pathways 2024 dataset.
Defective SLC26A4 causes Pendred syndrome (PDS) Gene Set From Reactome Pathways 2024 proteins participating in the Defective SLC26A4 causes Pendred syndrome (PDS) pathway from the Reactome Pathways 2024 dataset.
Defective SLC27A4 causes ichthyosis prematurity syndrome (IPS) Gene Set From Reactome Pathways 2024 proteins participating in the Defective SLC27A4 causes ichthyosis prematurity syndrome (IPS) pathway from the Reactome Pathways 2024 dataset.
Defective SLC29A3 causes histiocytosis-lymphadenopathy plus syndrome (HLAS) Gene Set From Reactome Pathways 2024 proteins participating in the Defective SLC29A3 causes histiocytosis-lymphadenopathy plus syndrome (HLAS) pathway from the Reactome Pathways 2024 dataset.
Defective SLC2A1 causes GLUT1 deficiency syndrome 1 (GLUT1DS1) Gene Set From Reactome Pathways 2024 proteins participating in the Defective SLC2A1 causes GLUT1 deficiency syndrome 1 (GLUT1DS1) pathway from the Reactome Pathways 2024 dataset.
Defective SLC2A10 causes arterial tortuosity syndrome (ATS) Gene Set From Reactome Pathways 2024 proteins participating in the Defective SLC2A10 causes arterial tortuosity syndrome (ATS) pathway from the Reactome Pathways 2024 dataset.
Defective SLC2A2 causes Fanconi-Bickel syndrome (FBS) Gene Set From Reactome Pathways 2024 proteins participating in the Defective SLC2A2 causes Fanconi-Bickel syndrome (FBS) pathway from the Reactome Pathways 2024 dataset.
Defective SLC2A9 causes hypouricemia renal 2 (RHUC2) Gene Set From Reactome Pathways 2024 proteins participating in the Defective SLC2A9 causes hypouricemia renal 2 (RHUC2) pathway from the Reactome Pathways 2024 dataset.
Defective SLC33A1 causes spastic paraplegia 42 (SPG42) Gene Set From Reactome Pathways 2024 proteins participating in the Defective SLC33A1 causes spastic paraplegia 42 (SPG42) pathway from the Reactome Pathways 2024 dataset.
Defective SLC34A1 causes hypophosphatemic nephrolithiasis/osteoporosis 1 (NPHLOP1) Gene Set From Reactome Pathways 2024 proteins participating in the Defective SLC34A1 causes hypophosphatemic nephrolithiasis/osteoporosis 1 (NPHLOP1) pathway from the Reactome Pathways 2024 dataset.
Defective SLC34A2 causes PALM Gene Set From Reactome Pathways 2024 proteins participating in the Defective SLC34A2 causes PALM pathway from the Reactome Pathways 2024 dataset.
Defective SLC34A2 causes pulmonary alveolar microlithiasis (PALM) Gene Set From Reactome Pathways 2024 proteins participating in the Defective SLC34A2 causes pulmonary alveolar microlithiasis (PALM) pathway from the Reactome Pathways 2024 dataset.
Defective SLC34A3 causes Hereditary hypophosphatemic rickets with hypercalciuria (HHRH) Gene Set From Reactome Pathways 2024 proteins participating in the Defective SLC34A3 causes Hereditary hypophosphatemic rickets with hypercalciuria (HHRH) pathway from the Reactome Pathways 2024 dataset.
Defective SLC35A1 causes congenital disorder of glycosylation 2F (CDG2F)_5619037 Gene Set From Reactome Pathways 2024 proteins participating in the Defective SLC35A1 causes congenital disorder of glycosylation 2F (CDG2F)_5619037 pathway from the Reactome Pathways 2024 dataset.
Defective SLC35A1 causes congenital disorder of glycosylation 2F (CDG2F)_5663020 Gene Set From Reactome Pathways 2024 proteins participating in the Defective SLC35A1 causes congenital disorder of glycosylation 2F (CDG2F)_5663020 pathway from the Reactome Pathways 2024 dataset.
Defective SLC35A2 causes congenital disorder of glycosylation 2M (CDG2M) Gene Set From Reactome Pathways 2024 proteins participating in the Defective SLC35A2 causes congenital disorder of glycosylation 2M (CDG2M) pathway from the Reactome Pathways 2024 dataset.
Defective SLC35A3 causes arthrogryposis, mental retardation, and seizures (AMRS) Gene Set From Reactome Pathways 2024 proteins participating in the Defective SLC35A3 causes arthrogryposis, mental retardation, and seizures (AMRS) pathway from the Reactome Pathways 2024 dataset.
Defective SLC35C1 causes congenital disorder of glycosylation 2C (CDG2C) Gene Set From Reactome Pathways 2024 proteins participating in the Defective SLC35C1 causes congenital disorder of glycosylation 2C (CDG2C) pathway from the Reactome Pathways 2024 dataset.
Defective SLC35D1 causes SCHBCKD Gene Set From Reactome Pathways 2024 proteins participating in the Defective SLC35D1 causes SCHBCKD pathway from the Reactome Pathways 2024 dataset.
Defective SLC36A2 causes iminoglycinuria (IG) and hyperglycinuria (HG) Gene Set From Reactome Pathways 2024 proteins participating in the Defective SLC36A2 causes iminoglycinuria (IG) and hyperglycinuria (HG) pathway from the Reactome Pathways 2024 dataset.
Defective SLC39A4 causes acrodermatitis enteropathica, zinc-deficiency type (AEZ) Gene Set From Reactome Pathways 2024 proteins participating in the Defective SLC39A4 causes acrodermatitis enteropathica, zinc-deficiency type (AEZ) pathway from the Reactome Pathways 2024 dataset.
Defective SLC3A1 causes cystinuria (CSNU) Gene Set From Reactome Pathways 2024 proteins participating in the Defective SLC3A1 causes cystinuria (CSNU) pathway from the Reactome Pathways 2024 dataset.
Defective SLC40A1 causes hemochromatosis 4 (HFE4) (duodenum) Gene Set From Reactome Pathways 2024 proteins participating in the Defective SLC40A1 causes hemochromatosis 4 (HFE4) (duodenum) pathway from the Reactome Pathways 2024 dataset.
Defective SLC40A1 causes hemochromatosis 4 (HFE4) (macrophages) Gene Set From Reactome Pathways 2024 proteins participating in the Defective SLC40A1 causes hemochromatosis 4 (HFE4) (macrophages) pathway from the Reactome Pathways 2024 dataset.
Defective SLC4A1 causes hereditary spherocytosis type 4 (HSP4), distal renal tubular acidosis (dRTA) and dRTA with hemolytic anemia (dRTA-HA) Gene Set From Reactome Pathways 2024 proteins participating in the Defective SLC4A1 causes hereditary spherocytosis type 4 (HSP4), distal renal tubular acidosis (dRTA) and dRTA with hemolytic anemia (dRTA-HA) pathway from the Reactome Pathways 2024 dataset.
Defective SLC4A4 causes renal tubular acidosis, proximal, with ocular abnormalities and mental retardation (pRTA-OA) Gene Set From Reactome Pathways 2024 proteins participating in the Defective SLC4A4 causes renal tubular acidosis, proximal, with ocular abnormalities and mental retardation (pRTA-OA) pathway from the Reactome Pathways 2024 dataset.
Defective SLC5A1 causes congenital glucose/galactose malabsorption (GGM) Gene Set From Reactome Pathways 2024 proteins participating in the Defective SLC5A1 causes congenital glucose/galactose malabsorption (GGM) pathway from the Reactome Pathways 2024 dataset.
Defective SLC5A2 causes renal glucosuria (GLYS1) Gene Set From Reactome Pathways 2024 proteins participating in the Defective SLC5A2 causes renal glucosuria (GLYS1) pathway from the Reactome Pathways 2024 dataset.
Defective SLC5A5 causes thyroid dyshormonogenesis 1 (TDH1) Gene Set From Reactome Pathways 2024 proteins participating in the Defective SLC5A5 causes thyroid dyshormonogenesis 1 (TDH1) pathway from the Reactome Pathways 2024 dataset.
Defective SLC5A7 causes distal hereditary motor neuronopathy 7A (HMN7A)_5619114 Gene Set From Reactome Pathways 2024 proteins participating in the Defective SLC5A7 causes distal hereditary motor neuronopathy 7A (HMN7A)_5619114 pathway from the Reactome Pathways 2024 dataset.
Defective SLC5A7 causes distal hereditary motor neuronopathy 7A (HMN7A)_5658471 Gene Set From Reactome Pathways 2024 proteins participating in the Defective SLC5A7 causes distal hereditary motor neuronopathy 7A (HMN7A)_5658471 pathway from the Reactome Pathways 2024 dataset.
Defective SLC6A19 causes Hartnup disorder (HND)_5619044 Gene Set From Reactome Pathways 2024 proteins participating in the Defective SLC6A19 causes Hartnup disorder (HND)_5619044 pathway from the Reactome Pathways 2024 dataset.
Defective SLC6A19 causes Hartnup disorder (HND)_5659735 Gene Set From Reactome Pathways 2024 proteins participating in the Defective SLC6A19 causes Hartnup disorder (HND)_5659735 pathway from the Reactome Pathways 2024 dataset.
Defective SLC6A2 causes orthostatic intolerance (OI) Gene Set From Reactome Pathways 2024 proteins participating in the Defective SLC6A2 causes orthostatic intolerance (OI) pathway from the Reactome Pathways 2024 dataset.
Defective SLC6A3 causes Parkinsonism-dystonia infantile (PKDYS)_5619081 Gene Set From Reactome Pathways 2024 proteins participating in the Defective SLC6A3 causes Parkinsonism-dystonia infantile (PKDYS)_5619081 pathway from the Reactome Pathways 2024 dataset.
Defective SLC6A3 causes Parkinsonism-dystonia infantile (PKDYS)_5660724 Gene Set From Reactome Pathways 2024 proteins participating in the Defective SLC6A3 causes Parkinsonism-dystonia infantile (PKDYS)_5660724 pathway from the Reactome Pathways 2024 dataset.
Defective SLC6A5 causes hyperekplexia 3 (HKPX3) Gene Set From Reactome Pathways 2024 proteins participating in the Defective SLC6A5 causes hyperekplexia 3 (HKPX3) pathway from the Reactome Pathways 2024 dataset.
Defective SLC7A7 causes lysinuric protein intolerance (LPI) Gene Set From Reactome Pathways 2024 proteins participating in the Defective SLC7A7 causes lysinuric protein intolerance (LPI) pathway from the Reactome Pathways 2024 dataset.
Defective SLC7A9 causes cystinuria (CSNU) Gene Set From Reactome Pathways 2024 proteins participating in the Defective SLC7A9 causes cystinuria (CSNU) pathway from the Reactome Pathways 2024 dataset.
Defective SLC9A6 causes X-linked, syndromic mental retardation,, Christianson type (MRXSCH) Gene Set From Reactome Pathways 2024 proteins participating in the Defective SLC9A6 causes X-linked, syndromic mental retardation,, Christianson type (MRXSCH) pathway from the Reactome Pathways 2024 dataset.
Defective SLC9A9 causes autism 16 (AUTS16) Gene Set From Reactome Pathways 2024 proteins participating in the Defective SLC9A9 causes autism 16 (AUTS16) pathway from the Reactome Pathways 2024 dataset.
Defective SLCO1B1 causes hyperbilirubinemia, Rotor type (HBLRR) Gene Set From Reactome Pathways 2024 proteins participating in the Defective SLCO1B1 causes hyperbilirubinemia, Rotor type (HBLRR) pathway from the Reactome Pathways 2024 dataset.
Defective SLCO1B3 causes hyperbilirubinemia, Rotor type (HBLRR) Gene Set From Reactome Pathways 2024 proteins participating in the Defective SLCO1B3 causes hyperbilirubinemia, Rotor type (HBLRR) pathway from the Reactome Pathways 2024 dataset.
Defective SLCO2A1 causes primary, autosomal recessive hypertrophic osteoarthropathy 2 (PHOAR2) Gene Set From Reactome Pathways 2024 proteins participating in the Defective SLCO2A1 causes primary, autosomal recessive hypertrophic osteoarthropathy 2 (PHOAR2) pathway from the Reactome Pathways 2024 dataset.
Defective SRD5A3 causes SRD5A3-CDG, KHRZ Gene Set From Reactome Pathways 2024 proteins participating in the Defective SRD5A3 causes SRD5A3-CDG, KHRZ pathway from the Reactome Pathways 2024 dataset.
Defective ST3GAL3 causes MCT12 and EIEE15 Gene Set From Reactome Pathways 2024 proteins participating in the Defective ST3GAL3 causes MCT12 and EIEE15 pathway from the Reactome Pathways 2024 dataset.
Defective TBXAS1 causes GHDD Gene Set From Reactome Pathways 2024 proteins participating in the Defective TBXAS1 causes GHDD pathway from the Reactome Pathways 2024 dataset.
Defective TCN2 causes TCN2 deficiency Gene Set From Reactome Pathways 2024 proteins participating in the Defective TCN2 causes TCN2 deficiency pathway from the Reactome Pathways 2024 dataset.
Defective TPMT causes TPMT deficiency Gene Set From Reactome Pathways 2024 proteins participating in the Defective TPMT causes TPMT deficiency pathway from the Reactome Pathways 2024 dataset.
Defective UGT1A1 causes hyperbilirubinemia Gene Set From Reactome Pathways 2024 proteins participating in the Defective UGT1A1 causes hyperbilirubinemia pathway from the Reactome Pathways 2024 dataset.
Defective UGT1A4 causes hyperbilirubinemia Gene Set From Reactome Pathways 2024 proteins participating in the Defective UGT1A4 causes hyperbilirubinemia pathway from the Reactome Pathways 2024 dataset.
Defective factor IX causes hemophilia B Gene Set From Reactome Pathways 2024 proteins participating in the Defective factor IX causes hemophilia B pathway from the Reactome Pathways 2024 dataset.
Defective factor IX causes thrombophilia Gene Set From Reactome Pathways 2024 proteins participating in the Defective factor IX causes thrombophilia pathway from the Reactome Pathways 2024 dataset.
Defective factor VIII causes hemophilia A Gene Set From Reactome Pathways 2024 proteins participating in the Defective factor VIII causes hemophilia A pathway from the Reactome Pathways 2024 dataset.
Defective factor XII causes hereditary angioedema Gene Set From Reactome Pathways 2024 proteins participating in the Defective factor XII causes hereditary angioedema pathway from the Reactome Pathways 2024 dataset.
Defective pro-SFTPB causes SMDP1 and RDS Gene Set From Reactome Pathways 2024 proteins participating in the Defective pro-SFTPB causes SMDP1 and RDS pathway from the Reactome Pathways 2024 dataset.
Defective pro-SFTPC causes SMDP2 and RDS Gene Set From Reactome Pathways 2024 proteins participating in the Defective pro-SFTPC causes SMDP2 and RDS pathway from the Reactome Pathways 2024 dataset.
oculocutaneous Gene Set From GeneRIF Biological Term Annotations genes co-occuring with the biological term oculocutaneous in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset.
Albinoidism, Oculocutaneous, Autosomal Dominant Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Albinoidism, Oculocutaneous, Autosomal Dominant in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Port-Wine Stain With Oculocutaneous Melanosis Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Port-Wine Stain With Oculocutaneous Melanosis in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Ocular albinism, type I Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Ocular albinism, type I phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Partial albinism Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Partial albinism phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Ocular Albinism type 1 Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Ocular Albinism type 1 from the curated CTD Gene-Disease Associations dataset.
Albinism with hemorrhagic diathesis and pigmented reticuloendothelial cells Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Albinism with hemorrhagic diathesis and pigmented reticuloendothelial cells from the curated CTD Gene-Disease Associations dataset.
Albinism deafness syndrome Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Albinism deafness syndrome from the curated CTD Gene-Disease Associations dataset.
Albinism ocular late onset sensorineural deafness Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Albinism ocular late onset sensorineural deafness from the curated CTD Gene-Disease Associations dataset.
ocular albinism Gene Set From DISEASES Curated Gene-Disease Association Evidence Scores genes involed in the disease ocular albinism from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.
ocular albinism Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease ocular albinism in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.
ocular albinism Gene Set From GAD Gene-Disease Associations genes associated with the disease ocular albinism in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
albinism Gene Set From GeneRIF Biological Term Annotations genes co-occuring with the biological term albinism in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset.
albinism Gene Set From HPO Gene-Disease Associations genes associated with the albinism phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.
ocular albinism Gene Set From HPO Gene-Disease Associations genes associated with the ocular albinism phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.
partial albinism Gene Set From HPO Gene-Disease Associations genes associated with the partial albinism phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.
Albinism Gene Set From HuGE Navigator Gene-Phenotype Associations genes associated with the Albinism phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset.
Albinism, Ocular Gene Set From HuGE Navigator Gene-Phenotype Associations genes associated with the Albinism, Ocular phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset.
Ocular albinism protein, type 1 Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Ocular albinism protein, type 1 protein domain from the InterPro Predicted Protein Domain Annotations dataset.
ocular albinism Gene Set From MPO Gene-Phenotype Associations gene mutations causing the ocular albinism phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.
ocular albinism, type i, nettleship-falls type Gene Set From OMIM Gene-Disease Associations genes associated with the ocular albinism, type i, nettleship-falls type phenotype from the curated OMIM Gene-Disease Associations dataset.
ocular albinism with sensorineural deafness Gene Set From OMIM Gene-Disease Associations genes associated with the ocular albinism with sensorineural deafness phenotype from the curated OMIM Gene-Disease Associations dataset.
waardenburg syndrome/albinism, digenic Gene Set From OMIM Gene-Disease Associations genes associated with the waardenburg syndrome/albinism, digenic phenotype from the curated OMIM Gene-Disease Associations dataset.
albinism-deafness syndrome Gene Set From OMIM Gene-Disease Associations genes associated with the albinism-deafness syndrome phenotype from the curated OMIM Gene-Disease Associations dataset.
waardenburg syndrome/ocular albinism, digenic Gene Set From OMIM Gene-Disease Associations genes associated with the waardenburg syndrome/ocular albinism, digenic phenotype from the curated OMIM Gene-Disease Associations dataset.
tietz albinism-deafness syndrome Gene Set From OMIM Gene-Disease Associations genes associated with the tietz albinism-deafness syndrome phenotype from the curated OMIM Gene-Disease Associations dataset.
Albinism, Ocular Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Albinism, Ocular in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Ocular Albinism Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Ocular Albinism in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Albinism Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Albinism in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Albinism With Hemorrhagic Diathesis And Pigmented Reticuloendothelial Cells Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Albinism With Hemorrhagic Diathesis And Pigmented Reticuloendothelial Cells in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Albinism, Tyrosinase-Negative Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Albinism, Tyrosinase-Negative in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Albinism, Tyrosinase-Positive Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Albinism, Tyrosinase-Positive in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Autosomal Recessive Ocular Albinism Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Autosomal Recessive Ocular Albinism in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Albinism, Yellow-Mutant Gene Set From DisGeNET Gene-Phenotype Associations genes associated with the phenotype Albinism, Yellow-Mutant in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.
ocular albinism Gene Set From MGI Mouse Phenotype Associations 2023 gene mutations causing the ocular albinism phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.
Ocular albinism 1 Gene Set From DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Ocular albinism 1 from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset.
Ocular albinism 1 Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Ocular albinism 1 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Ocular albinism with sensorineural deafness Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Ocular albinism with sensorineural deafness in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Albinism or congenital nystagmus Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Albinism or congenital nystagmus phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Albinism Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Albinism phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Ocular albinism Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Ocular albinism phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
inactivation of gsk3 by akt causes accumulation of b-catenin in alveolar macrophages Gene Set From Biocarta Pathways proteins participating in the inactivation of gsk3 by akt causes accumulation of b-catenin in alveolar macrophages pathway from the Biocarta Pathways dataset.
causes Gene Set From GeneRIF Biological Term Annotations genes co-occuring with the biological term causes in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset.
Genetic causes of porto sinusoidal vascular disease Gene Set From WikiPathways Pathways 2024 proteins participating in the Genetic causes of porto sinusoidal vascular disease pathway from the WikiPathways Pathways 2024 dataset.
H139Hfs13* PPM1K causes a mild variant of MSUD Gene Set From Reactome Pathways 2024 proteins participating in the H139Hfs13* PPM1K causes a mild variant of MSUD pathway from the Reactome Pathways 2024 dataset.
IKBKB deficiency causes SCID Gene Set From Reactome Pathways 2024 proteins participating in the IKBKB deficiency causes SCID pathway from the Reactome Pathways 2024 dataset.
IKBKG deficiency causes anhidrotic ectodermal dysplasia with immunodeficiency (EDA-ID) (via TLR) Gene Set From Reactome Pathways 2024 proteins participating in the IKBKG deficiency causes anhidrotic ectodermal dysplasia with immunodeficiency (EDA-ID) (via TLR) pathway from the Reactome Pathways 2024 dataset.
Micronuclei, Chromosome-Defective Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Micronuclei, Chromosome-Defective from the curated CTD Gene-Disease Associations dataset.
defective colour vision Gene Set From GAD Gene-Disease Associations genes associated with the disease defective colour vision in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
micronuclei, chromosome-defective Gene Set From GAD Gene-Disease Associations genes associated with the disease micronuclei, chromosome-defective in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
familial defective apolipoprotein b100. Gene Set From GAD Gene-Disease Associations genes associated with the disease familial defective apolipoprotein b100. in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
defective dr beta 4 chain expression to the hla-drb1 gene Gene Set From GAD Gene-Disease Associations genes associated with the disease defective dr beta 4 chain expression to the hla-drb1 gene in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
familial defective apolipoprotein b Gene Set From GAD Gene-Disease Associations genes associated with the disease familial defective apolipoprotein b in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
cardiovascular diseases; micronuclei, chromosome-defective Gene Set From GAD Gene-Disease Associations genes associated with the disease cardiovascular diseases; micronuclei, chromosome-defective in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
down syndrome; micronuclei, chromosome-defective Gene Set From GAD Gene-Disease Associations genes associated with the disease down syndrome; micronuclei, chromosome-defective in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
dna damage; micronuclei, chromosome-defective Gene Set From GAD Gene-Disease Associations genes associated with the disease dna damage; micronuclei, chromosome-defective in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
dna damage; lung neoplasms; micronuclei, chromosome-defective; neoplasm of lung Gene Set From GAD Gene-Disease Associations genes associated with the disease dna damage; lung neoplasms; micronuclei, chromosome-defective; neoplasm of lung in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
familial defective apolipoprotein b-100 in a chinese man Gene Set From GAD Gene-Disease Associations genes associated with the disease familial defective apolipoprotein b-100 in a chinese man in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
defective heparin binding associated Gene Set From GAD Gene-Disease Associations genes associated with the disease defective heparin binding associated in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
flushing; micronuclei, chromosome-defective Gene Set From GAD Gene-Disease Associations genes associated with the disease flushing; micronuclei, chromosome-defective in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
chromosome aberrations; chromosome abnormality; micronuclei, chromosome-defective Gene Set From GAD Gene-Disease Associations genes associated with the disease chromosome aberrations; chromosome abnormality; micronuclei, chromosome-defective in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
chromosome aberrations; chromosome abnormality; micronuclei, chromosome-defective; radiation injuries Gene Set From GAD Gene-Disease Associations genes associated with the disease chromosome aberrations; chromosome abnormality; micronuclei, chromosome-defective; radiation injuries in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
congenital goiter and defective tg synthesis. Gene Set From GAD Gene-Disease Associations genes associated with the disease congenital goiter and defective tg synthesis. in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
defective Gene Set From GeneRIF Biological Term Annotations genes co-occuring with the biological term defective in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset.
defective dna repair after ultraviolet radiation damage Gene Set From HPO Gene-Disease Associations genes associated with the defective dna repair after ultraviolet radiation damage phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.
defective lymphocyte apoptosis Gene Set From HPO Gene-Disease Associations genes associated with the defective lymphocyte apoptosis phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.
defective b cell activation Gene Set From HPO Gene-Disease Associations genes associated with the defective b cell activation phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.
respiratory insufficiency due to defective ciliary clearance Gene Set From HPO Gene-Disease Associations genes associated with the respiratory insufficiency due to defective ciliary clearance phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.
defective dehydrogenation of isovaleryl coa and butyryl coa Gene Set From HPO Gene-Disease Associations genes associated with the defective dehydrogenation of isovaleryl coa and butyryl coa phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.
defective b cell differentiation Gene Set From HPO Gene-Disease Associations genes associated with the defective b cell differentiation phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.
Micronuclei, Chromosome-Defective Gene Set From HuGE Navigator Gene-Phenotype Associations genes associated with the Micronuclei, Chromosome-Defective phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset.
Defective-in-cullin neddylation protein Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Defective-in-cullin neddylation protein protein domain from the InterPro Predicted Protein Domain Annotations dataset.
defective assembly of class i molecules Gene Set From MPO Gene-Phenotype Associations gene mutations causing the defective assembly of class i molecules phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.
defective assembly of class ii molecules Gene Set From MPO Gene-Phenotype Associations gene mutations causing the defective assembly of class ii molecules phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.
defective intracellular transport of class i molecules Gene Set From MPO Gene-Phenotype Associations gene mutations causing the defective intracellular transport of class i molecules phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.
encephalopahty, lethal, due to defective mitochondrial peroxisomal fission Gene Set From OMIM Gene-Disease Associations genes associated with the encephalopahty, lethal, due to defective mitochondrial peroxisomal fission phenotype from the curated OMIM Gene-Disease Associations dataset.
hypercholesterolemia, due to ligand-defective apo b Gene Set From OMIM Gene-Disease Associations genes associated with the hypercholesterolemia, due to ligand-defective apo b phenotype from the curated OMIM Gene-Disease Associations dataset.
?male pseudohermaphroditism due to defective lh Gene Set From OMIM Gene-Disease Associations genes associated with the ?male pseudohermaphroditism due to defective lh phenotype from the curated OMIM Gene-Disease Associations dataset.
Processing-defective Hh variants abrogate ligand secretion Gene Set From Reactome Pathways 2014 proteins participating in the Processing-defective Hh variants abrogate ligand secretion pathway from the Reactome Pathways dataset.
Hypercholesterolemia, Familial, Due To Ligand-Defective Apolipoprotein B Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Hypercholesterolemia, Familial, Due To Ligand-Defective Apolipoprotein B in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Bile Acid Coa Ligase Deficiency And Defective Amidation Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Bile Acid Coa Ligase Deficiency And Defective Amidation in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Defective Thyroglobulin Synthesis Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Defective Thyroglobulin Synthesis in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Micronuclei, Chromosome-Defective Gene Set From DisGeNET Gene-Phenotype Associations genes associated with the phenotype Micronuclei, Chromosome-Defective in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.
Respiratory Insufficiency Due To Defective Ciliary Clearance Gene Set From DisGeNET Gene-Phenotype Associations genes associated with the phenotype Respiratory Insufficiency Due To Defective Ciliary Clearance in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.
Defective B Cell Differentiation Gene Set From DisGeNET Gene-Phenotype Associations genes associated with the phenotype Defective B Cell Differentiation in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.
Defective B Cell Activation Gene Set From DisGeNET Gene-Phenotype Associations genes associated with the phenotype Defective B Cell Activation in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.
Defective Dna Repair After Ultraviolet Radiation Damage Gene Set From DisGeNET Gene-Phenotype Associations genes associated with the phenotype Defective Dna Repair After Ultraviolet Radiation Damage in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.
Defective Production Of Nfkb1-Dependent Cytokines Gene Set From DisGeNET Gene-Phenotype Associations genes associated with the phenotype Defective Production Of Nfkb1-Dependent Cytokines in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.
Defective T Cell Proliferation Gene Set From DisGeNET Gene-Phenotype Associations genes associated with the phenotype Defective T Cell Proliferation in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.
defective intracellular transport of class I molecules Gene Set From MGI Mouse Phenotype Associations 2023 gene mutations causing the defective intracellular transport of class I molecules phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.
defective assembly of class II molecules Gene Set From MGI Mouse Phenotype Associations 2023 gene mutations causing the defective assembly of class II molecules phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.
defective assembly of class I molecules Gene Set From MGI Mouse Phenotype Associations 2023 gene mutations causing the defective assembly of class I molecules phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.
Defective ABCC8 can cause hypo- and hyper-glycemias Gene Set From Reactome Pathways 2024 proteins participating in the Defective ABCC8 can cause hypo- and hyper-glycemias pathway from the Reactome Pathways 2024 dataset.
Defective ADA disrupts (deoxy)adenosine deamination Gene Set From Reactome Pathways 2024 proteins participating in the Defective ADA disrupts (deoxy)adenosine deamination pathway from the Reactome Pathways 2024 dataset.
Defective APRT disrupts adenine salvage Gene Set From Reactome Pathways 2024 proteins participating in the Defective APRT disrupts adenine salvage pathway from the Reactome Pathways 2024 dataset.
Defective Base Excision Repair Associated with MUTYH Gene Set From Reactome Pathways 2024 proteins participating in the Defective Base Excision Repair Associated with MUTYH pathway from the Reactome Pathways 2024 dataset.
Defective Base Excision Repair Associated with NEIL1 Gene Set From Reactome Pathways 2024 proteins participating in the Defective Base Excision Repair Associated with NEIL1 pathway from the Reactome Pathways 2024 dataset.
Defective Base Excision Repair Associated with NEIL3 Gene Set From Reactome Pathways 2024 proteins participating in the Defective Base Excision Repair Associated with NEIL3 pathway from the Reactome Pathways 2024 dataset.
Defective Base Excision Repair Associated with NTHL1 Gene Set From Reactome Pathways 2024 proteins participating in the Defective Base Excision Repair Associated with NTHL1 pathway from the Reactome Pathways 2024 dataset.
Defective Base Excision Repair Associated with OGG1 Gene Set From Reactome Pathways 2024 proteins participating in the Defective Base Excision Repair Associated with OGG1 pathway from the Reactome Pathways 2024 dataset.
Defective DNA double strand break response due to BARD1 loss of function Gene Set From Reactome Pathways 2024 proteins participating in the Defective DNA double strand break response due to BARD1 loss of function pathway from the Reactome Pathways 2024 dataset.
Defective DNA double strand break response due to BRCA1 loss of function Gene Set From Reactome Pathways 2024 proteins participating in the Defective DNA double strand break response due to BRCA1 loss of function pathway from the Reactome Pathways 2024 dataset.
Defective F8 accelerates dissociation of the A2 domain Gene Set From Reactome Pathways 2024 proteins participating in the Defective F8 accelerates dissociation of the A2 domain pathway from the Reactome Pathways 2024 dataset.
Defective F8 binding to the cell membrane Gene Set From Reactome Pathways 2024 proteins participating in the Defective F8 binding to the cell membrane pathway from the Reactome Pathways 2024 dataset.
Defective F8 binding to von Willebrand factor Gene Set From Reactome Pathways 2024 proteins participating in the Defective F8 binding to von Willebrand factor pathway from the Reactome Pathways 2024 dataset.
Defective F8 cleavage by thrombin Gene Set From Reactome Pathways 2024 proteins participating in the Defective F8 cleavage by thrombin pathway from the Reactome Pathways 2024 dataset.
Defective F8 secretion Gene Set From Reactome Pathways 2024 proteins participating in the Defective F8 secretion pathway from the Reactome Pathways 2024 dataset.
Defective F8 sulfation at Y1699 Gene Set From Reactome Pathways 2024 proteins participating in the Defective F8 sulfation at Y1699 pathway from the Reactome Pathways 2024 dataset.
Defective F9 activation Gene Set From Reactome Pathways 2024 proteins participating in the Defective F9 activation pathway from the Reactome Pathways 2024 dataset.
Defective F9 secretion Gene Set From Reactome Pathways 2024 proteins participating in the Defective F9 secretion pathway from the Reactome Pathways 2024 dataset.
Defective F9 variant does not activate FX Gene Set From Reactome Pathways 2024 proteins participating in the Defective F9 variant does not activate FX pathway from the Reactome Pathways 2024 dataset.
Defective GALT can cause GALCT Gene Set From Reactome Pathways 2024 proteins participating in the Defective GALT can cause GALCT pathway from the Reactome Pathways 2024 dataset.
Defective HDR through Homologous Recombination Repair (HRR) due to PALB2 loss of BRCA1 binding function Gene Set From Reactome Pathways 2024 proteins participating in the Defective HDR through Homologous Recombination Repair (HRR) due to PALB2 loss of BRCA1 binding function pathway from the Reactome Pathways 2024 dataset.
Defective HDR through Homologous Recombination Repair (HRR) due to PALB2 loss of BRCA2/RAD51/RAD51C binding function Gene Set From Reactome Pathways 2024 proteins participating in the Defective HDR through Homologous Recombination Repair (HRR) due to PALB2 loss of BRCA2/RAD51/RAD51C binding function pathway from the Reactome Pathways 2024 dataset.
Defective HPRT1 disrupts guanine and hypoxanthine salvage Gene Set From Reactome Pathways 2024 proteins participating in the Defective HPRT1 disrupts guanine and hypoxanthine salvage pathway from the Reactome Pathways 2024 dataset.
Defective Inhibition of DNA Recombination at Telomere Gene Set From Reactome Pathways 2024 proteins participating in the Defective Inhibition of DNA Recombination at Telomere pathway from the Reactome Pathways 2024 dataset.
Defective Inhibition of DNA Recombination at Telomere Due to ATRX Mutations Gene Set From Reactome Pathways 2024 proteins participating in the Defective Inhibition of DNA Recombination at Telomere Due to ATRX Mutations pathway from the Reactome Pathways 2024 dataset.
Defective Inhibition of DNA Recombination at Telomere Due to DAXX Mutations Gene Set From Reactome Pathways 2024 proteins participating in the Defective Inhibition of DNA Recombination at Telomere Due to DAXX Mutations pathway from the Reactome Pathways 2024 dataset.
Defective Intrinsic Pathway for Apoptosis Gene Set From Reactome Pathways 2024 proteins participating in the Defective Intrinsic Pathway for Apoptosis pathway from the Reactome Pathways 2024 dataset.
Defective Intrinsic Pathway for Apoptosis Due to p14ARF Loss of Function Gene Set From Reactome Pathways 2024 proteins participating in the Defective Intrinsic Pathway for Apoptosis Due to p14ARF Loss of Function pathway from the Reactome Pathways 2024 dataset.
Defective MUTYH substrate binding Gene Set From Reactome Pathways 2024 proteins participating in the Defective MUTYH substrate binding pathway from the Reactome Pathways 2024 dataset.
Defective MUTYH substrate processing Gene Set From Reactome Pathways 2024 proteins participating in the Defective MUTYH substrate processing pathway from the Reactome Pathways 2024 dataset.
Defective Mismatch Repair Associated With MLH1 Gene Set From Reactome Pathways 2024 proteins participating in the Defective Mismatch Repair Associated With MLH1 pathway from the Reactome Pathways 2024 dataset.
Defective Mismatch Repair Associated With MSH2 Gene Set From Reactome Pathways 2024 proteins participating in the Defective Mismatch Repair Associated With MSH2 pathway from the Reactome Pathways 2024 dataset.
Defective Mismatch Repair Associated With MSH3 Gene Set From Reactome Pathways 2024 proteins participating in the Defective Mismatch Repair Associated With MSH3 pathway from the Reactome Pathways 2024 dataset.
Defective Mismatch Repair Associated With MSH6 Gene Set From Reactome Pathways 2024 proteins participating in the Defective Mismatch Repair Associated With MSH6 pathway from the Reactome Pathways 2024 dataset.
Defective Mismatch Repair Associated With PMS2 Gene Set From Reactome Pathways 2024 proteins participating in the Defective Mismatch Repair Associated With PMS2 pathway from the Reactome Pathways 2024 dataset.
Defective NTHL1 substrate binding Gene Set From Reactome Pathways 2024 proteins participating in the Defective NTHL1 substrate binding pathway from the Reactome Pathways 2024 dataset.
Defective NTHL1 substrate processing Gene Set From Reactome Pathways 2024 proteins participating in the Defective NTHL1 substrate processing pathway from the Reactome Pathways 2024 dataset.
Defective OGG1 Localization Gene Set From Reactome Pathways 2024 proteins participating in the Defective OGG1 Localization pathway from the Reactome Pathways 2024 dataset.
Defective OGG1 Substrate Binding Gene Set From Reactome Pathways 2024 proteins participating in the Defective OGG1 Substrate Binding pathway from the Reactome Pathways 2024 dataset.
Defective OGG1 Substrate Processing Gene Set From Reactome Pathways 2024 proteins participating in the Defective OGG1 Substrate Processing pathway from the Reactome Pathways 2024 dataset.
Defective PNP disrupts phosphorolysis of (deoxy)guanosine and (deoxy)inosine Gene Set From Reactome Pathways 2024 proteins participating in the Defective PNP disrupts phosphorolysis of (deoxy)guanosine and (deoxy)inosine pathway from the Reactome Pathways 2024 dataset.
Defective RIPK1-mediated regulated necrosis Gene Set From Reactome Pathways 2024 proteins participating in the Defective RIPK1-mediated regulated necrosis pathway from the Reactome Pathways 2024 dataset.
Defective SLC1A1 is implicated in schizophrenia 18 (SCZD18) and dicarboxylic aminoaciduria (DCBXA) Gene Set From Reactome Pathways 2024 proteins participating in the Defective SLC1A1 is implicated in schizophrenia 18 (SCZD18) and dicarboxylic aminoaciduria (DCBXA) pathway from the Reactome Pathways 2024 dataset.
Defective SLC6A18 may confer susceptibility to iminoglycinuria and/or hyperglycinuria_5619079 Gene Set From Reactome Pathways 2024 proteins participating in the Defective SLC6A18 may confer susceptibility to iminoglycinuria and/or hyperglycinuria_5619079 pathway from the Reactome Pathways 2024 dataset.
Defective SLC6A18 may confer susceptibility to iminoglycinuria and/or hyperglycinuria_5659729 Gene Set From Reactome Pathways 2024 proteins participating in the Defective SLC6A18 may confer susceptibility to iminoglycinuria and/or hyperglycinuria_5659729 pathway from the Reactome Pathways 2024 dataset.
Defective TPR may confer susceptibility towards thyroid papillary carcinoma (TPC) Gene Set From Reactome Pathways 2024 proteins participating in the Defective TPR may confer susceptibility towards thyroid papillary carcinoma (TPC) pathway from the Reactome Pathways 2024 dataset.
Defective VWF binding to collagen type I Gene Set From Reactome Pathways 2024 proteins participating in the Defective VWF binding to collagen type I pathway from the Reactome Pathways 2024 dataset.
Defective VWF cleavage by ADAMTS13 variant Gene Set From Reactome Pathways 2024 proteins participating in the Defective VWF cleavage by ADAMTS13 variant pathway from the Reactome Pathways 2024 dataset.
Defective binding of RB1 mutants to E2F1,(E2F2, E2F3) Gene Set From Reactome Pathways 2024 proteins participating in the Defective binding of RB1 mutants to E2F1,(E2F2, E2F3) pathway from the Reactome Pathways 2024 dataset.
Defective binding of VWF variant to GPIb:IX:V Gene Set From Reactome Pathways 2024 proteins participating in the Defective binding of VWF variant to GPIb:IX:V pathway from the Reactome Pathways 2024 dataset.
Defective cofactor function of FVIIIa variant Gene Set From Reactome Pathways 2024 proteins participating in the Defective cofactor function of FVIIIa variant pathway from the Reactome Pathways 2024 dataset.
Defective gamma-carboxylation of F9 Gene Set From Reactome Pathways 2024 proteins participating in the Defective gamma-carboxylation of F9 pathway from the Reactome Pathways 2024 dataset.
Defective homologous recombination repair (HRR) due to BRCA1 loss of function Gene Set From Reactome Pathways 2024 proteins participating in the Defective homologous recombination repair (HRR) due to BRCA1 loss of function pathway from the Reactome Pathways 2024 dataset.
Defective homologous recombination repair (HRR) due to BRCA2 loss of function Gene Set From Reactome Pathways 2024 proteins participating in the Defective homologous recombination repair (HRR) due to BRCA2 loss of function pathway from the Reactome Pathways 2024 dataset.
Defective homologous recombination repair (HRR) due to PALB2 loss of function Gene Set From Reactome Pathways 2024 proteins participating in the Defective homologous recombination repair (HRR) due to PALB2 loss of function pathway from the Reactome Pathways 2024 dataset.
Defective pyroptosis Gene Set From Reactome Pathways 2024 proteins participating in the Defective pyroptosis pathway from the Reactome Pathways 2024 dataset.
Defective regulation of TLR7 by endogenous ligand Gene Set From Reactome Pathways 2024 proteins participating in the Defective regulation of TLR7 by endogenous ligand pathway from the Reactome Pathways 2024 dataset.
Defective translocation of RB1 mutants to the nucleus Gene Set From Reactome Pathways 2024 proteins participating in the Defective translocation of RB1 mutants to the nucleus pathway from the Reactome Pathways 2024 dataset.
Defective visual phototransduction due to ABCA4 loss of function Gene Set From Reactome Pathways 2024 proteins participating in the Defective visual phototransduction due to ABCA4 loss of function pathway from the Reactome Pathways 2024 dataset.
Defective visual phototransduction due to LRAT loss of function Gene Set From Reactome Pathways 2024 proteins participating in the Defective visual phototransduction due to LRAT loss of function pathway from the Reactome Pathways 2024 dataset.
Defective visual phototransduction due to OPN1LW loss of function Gene Set From Reactome Pathways 2024 proteins participating in the Defective visual phototransduction due to OPN1LW loss of function pathway from the Reactome Pathways 2024 dataset.
Defective visual phototransduction due to OPN1MW loss of function Gene Set From Reactome Pathways 2024 proteins participating in the Defective visual phototransduction due to OPN1MW loss of function pathway from the Reactome Pathways 2024 dataset.
Defective visual phototransduction due to OPN1SW loss of function Gene Set From Reactome Pathways 2024 proteins participating in the Defective visual phototransduction due to OPN1SW loss of function pathway from the Reactome Pathways 2024 dataset.
Defective visual phototransduction due to RDH12 loss of function Gene Set From Reactome Pathways 2024 proteins participating in the Defective visual phototransduction due to RDH12 loss of function pathway from the Reactome Pathways 2024 dataset.
Defective visual phototransduction due to RDH5 loss of function Gene Set From Reactome Pathways 2024 proteins participating in the Defective visual phototransduction due to RDH5 loss of function pathway from the Reactome Pathways 2024 dataset.
Defective visual phototransduction due to STRA6 loss of function Gene Set From Reactome Pathways 2024 proteins participating in the Defective visual phototransduction due to STRA6 loss of function pathway from the Reactome Pathways 2024 dataset.
Evasion of Oncogene Induced Senescence Due to Defective p16INK4A binding to CDK4 Gene Set From Reactome Pathways 2024 proteins participating in the Evasion of Oncogene Induced Senescence Due to Defective p16INK4A binding to CDK4 pathway from the Reactome Pathways 2024 dataset.
Evasion of Oncogene Induced Senescence Due to Defective p16INK4A binding to CDK4 and CDK6 Gene Set From Reactome Pathways 2024 proteins participating in the Evasion of Oncogene Induced Senescence Due to Defective p16INK4A binding to CDK4 and CDK6 pathway from the Reactome Pathways 2024 dataset.
Evasion of Oxidative Stress Induced Senescence Due to Defective p16INK4A binding to CDK4 Gene Set From Reactome Pathways 2024 proteins participating in the Evasion of Oxidative Stress Induced Senescence Due to Defective p16INK4A binding to CDK4 pathway from the Reactome Pathways 2024 dataset.
Evasion of Oxidative Stress Induced Senescence Due to Defective p16INK4A binding to CDK4 and CDK6 Gene Set From Reactome Pathways 2024 proteins participating in the Evasion of Oxidative Stress Induced Senescence Due to Defective p16INK4A binding to CDK4 and CDK6 pathway from the Reactome Pathways 2024 dataset.
Immunodeficiency 73a with defective neutrophil chemotaxis and leukocytosis Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Immunodeficiency 73a with defective neutrophil chemotaxis and leukocytosis in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Encephalopathy due to defective mitochondrial and peroxisomal fission 1 Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Encephalopathy due to defective mitochondrial and peroxisomal fission 1 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Encephalopathy due to defective mitochondrial and peroxisomal fission Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Encephalopathy due to defective mitochondrial and peroxisomal fission phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Harmonizome 3.0

Defective SLC24A5 causes oculocutaneous albinism 6 (OCA6) Gene Set

Tyrosinase-negative oculocutaneous albinism Gene Set

Tyrosinase-positive oculocutaneous albinism Gene Set

Oculocutaneous albinism type 7 Gene Set

Oculocutaneous albinism type 3 Gene Set

Oculocutaneous albinism type 4 Gene Set

Oculocutaneous albinism type 1B Gene Set

Albinism, Oculocutaneous Gene Set

Oculocutaneous Albinism, Type IV Gene Set

Oculocutaneous albinism type 2 Gene Set

Oculocutaneous albinism type 3 Gene Set

Oculocutaneous albinism type 1 Gene Set

oculocutaneous albinism Gene Set

oculocutaneous albinism Gene Set

albinism, oculocutaneous Gene Set

type ib (yellow) oculocutaneous albinism Gene Set

oculocutaneous albinism Gene Set

oculocutaneous albinism type 4 Gene Set

oculocutaneous albinism type 2 Gene Set

type i-a (tyrosinase-negative) oculocutaneous albinism Gene Set

Albinism, Oculocutaneous Gene Set

{albinism, oculocutaneous, type ii, modifier of} Gene Set

albinism, oculocutaneous, type vii Gene Set

albinism, oculocutaneous, type iv Gene Set

albinism, oculocutaneous, type ia Gene Set

albinism, oculocutaneous, type ii Gene Set

albinism, oculocutaneous, type v Gene Set

albinism, oculocutaneous, type ib Gene Set

albinism, brown oculocutaneous Gene Set

albinism, oculocutaneous, type vi Gene Set

albinism, oculocutaneous, type iii Gene Set

Oculocutaneous Albinism Gene Set

Albinism, Oculocutaneous Gene Set

Brown Oculocutaneous Albinism Gene Set

Autosomal Dominant Oculocutaneous Albinism Gene Set

Yellow Mutant Oculocutaneous Albinism Gene Set

Oculocutaneous Albinism, Type Ii, Modifier Of Gene Set

Oculocutaneous albinism Gene Set

Oculocutaneous albinism Gene Set

Oculocutaneous albinism type IA Gene Set

Oculocutaneous albinism type II Gene Set

Oculocutaneous albinism type III Gene Set

Oculocutaneous albinism type IV Gene Set

Oculocutaneous albinism type IB Gene Set

Tyrosinase-positive oculocutaneous albinism Gene Set

Oculocutaneous albinism Gene Set

Nonsyndromic Oculocutaneous Albinism Gene Set

Temperature-sensitive oculocutaneous albinism Gene Set

slc24a5 Gene Set

SLC24A5 Gene Set

Defective PAPSS2 causes SEMD-PA Gene Set

Defective FMO3 causes Trimethylaminuria (TMAU) Gene Set

Defective MAOA causes Brunner syndrome (BRUNS) Gene Set

Defective CYP21A2 causes Adrenal hyperplasia 3 (AH3) Gene Set

Defective ALG8 causes ALG8-CDG (CDG-1h) Gene Set

Defective MGAT2 causes MGAT2-CDG (CDG-2a) Gene Set

Defective CYP26B1 causes Radiohumeral fusions with other skeletal and craniofacial anomalies (RHFCA) Gene Set

Defective MMACHC causes methylmalonic aciduria and homocystinuria type cblC Gene Set

Defective MMAB causes methylmalonic aciduria type cblB Gene Set

Defective CYP24A1 causes Hypercalcemia, infantile (HCAI) Gene Set

Defective TBXAS1 causes Ghosal hematodiaphyseal dysplasia (GHDD) Gene Set

Defective CYP19A1 causes Aromatase excess syndrome (AEXS) Gene Set

Defective ACY1 causes encephalopathy Gene Set

Defective CYP1B1 causes Glaucoma Gene Set

Defective CYP2R1 causes Rickets vitamin D-dependent 1B (VDDR1B) Gene Set

Defective AMN causes hereditary megaloblastic anemia 1 Gene Set

Defective RFT1 causes RFT1-CDG (CDG-1n) Gene Set

Defective ALG6 causes ALG6-CDG (CDG-1c) Gene Set

Defective MMAA causes methylmalonic aciduria type cblA Gene Set

Defective CHSY1 causes TPBS Gene Set

Defective EXT2 causes exostoses 2 Gene Set

Defective B3GAT3 causes JDSSDHD Gene Set

Defective LMBRD1 causes methylmalonic aciduria and homocystinuria type cblF Gene Set

Defective ALG9 causes ALG9-CDG (CDG-1l) Gene Set

Defective CYP27A1 causes Cerebrotendinous xanthomatosis (CTX) Gene Set

Defective MTR causes methylmalonic aciduria and homocystinuria type cblG Gene Set

Defective GGT1 causes Glutathionuria (GLUTH) Gene Set

Defective CYP7B1 causes Spastic paraplegia 5A, autosomal recessive (SPG5A) and Congenital bile acid synthesis defect 3 (CBAS3) Gene Set

Defective ALG1 causes ALG1-CDG (CDG-1k) Gene Set