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GENE - TERM ANNOTATION REPORT

RGD ID: 1316170
Species: Homo sapiens
RGD Object: Gene
Symbol: COL4A1
Name: collagen type IV alpha 1 chain
Acc ID: DOID:630
Term: genetic disease
Definition: A disease that has_material_basis_in genetic variations in the human genome. (DO)
Definition Source(s): http://ghr.nlm.nih.gov/ "DO" "DO"
Note: Use of the qualifier "multiple interactions" designates that the annotated interaction is comprised of a complex set of reactions and/or regulatory events, possibly involving additional chemicals and/or gene products.
Object SymbolQualifierEvidenceWithReferenceSourceNotesOriginal Reference(s)
COL4A1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Inborn genetic diseasesPMID:25741868 PMID:28442301 PMID:28492532 PMID:32732225
COL4A1 IAGP (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Inborn genetic diseasesPMID:25741868 PMID:28492532
COL4A1 IAGP (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Inborn genetic diseasesPMID:28492532
COL4A1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Inborn genetic diseasesPMID:25741868 PMID:28492532 PMID:31230195
COL4A1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Inborn genetic diseasesPMID:22574627 PMID:22914737 PMID:24374867 PMID:24628545 PMID:25457163 PMID:25741868 PMID:31051113 PMID:33353976 PMID:33527515 PMID:3691802 PMID:9724608
COL4A1 IAGP (Homo sapiens) or (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Inborn genetic diseasesPMID:17078022 PMID:19344236 PMID:28492532 PMID:7695699 PMID:8218237 PMID:9016532
COL4A1 IAGP (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Inborn genetic diseases 
COL4A1 IAGP (Homo sapiens) or (Homo sapiens) or (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Inborn genetic diseasesPMID:25741868 PMID:26467025 PMID:28492532
COL4A1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Inborn genetic diseasesPMID:12525718 PMID:15882279 PMID:15905400 PMID:16107487 PMID:16374828 PMID:16598045 PMID:17696175 PMID:17938367 PMID:18160688 PMID:19194877 PMID:19840616 PMID:19949034 PMID:21625620 PMID:22574627 PMID:23065703 PMID:23394911 PMID:26220970 PMID:6428250
COL4A1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Inborn genetic diseasesPMID:10713126 PMID:10896941 PMID:12011424 PMID:2211826 PMID:25741868 PMID:28492532
COL4A1 IAGP (Homo sapiens) or (Homo sapiens) or (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Inborn genetic diseasesPMID:3691802 PMID:9724608
COL4A1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Inborn genetic diseasesPMID:25741868 PMID:28492532 PMID:31069529 PMID:35711275
COL4A1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Inborn genetic diseasesPMID:17576681 PMID:28492532 PMID:9536098
COL4A1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Inborn genetic diseasesPMID:29801666 PMID:3691802 PMID:9724608
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