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GENE - TERM ANNOTATION REPORT

RGD ID: 731987
Species: Homo sapiens
RGD Object: Gene
Symbol: TGM1
Name: transglutaminase 1
Acc ID: DOID:0060655
Term: autosomal recessive congenital ichthyosis
Definition: An ichthyosis that is characterized by autosomal recessive inheritance and abnormal skin scaling over the whole body due to a defect in keratinization. (DO)
Definition Source(s): https://ghr.nlm.nih.gov/condition/nonbullous-congenital-ichthyosiform-erythroderma#inheritance "DO" "DO", https://www.ncbi.nlm.nih.gov/books/NBK1420/ "DO" "DO", https://www.ncbi.nlm.nih.gov/pubmed/20643494 "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)
TGM1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Autosomal recessive congenital ichthyosisPMID:10914678 PMID:16968736 PMID:18948357 PMID:19241467 PMID:25741868 PMID:27025581 PMID:28403434 PMID:28492532 PMID:7824952 PMID:9545389 PMID:9887377
TGM1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Lamellar ichthyosisPMID:16968736 PMID:18948357 PMID:19241467 PMID:22437313 PMID:25741868 PMID:25998749 PMID:28492532 PMID:31046801 PMID:31168818
TGM1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Lamellar ichthyosisPMID:16968736 PMID:19212342 PMID:25741868 PMID:27025581 PMID:28403434 PMID:28492532 PMID:30950025
TGM1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Lamellar ichthyosisPMID:18948357 PMID:19241467 PMID:25525159 PMID:25741868 PMID:28492532 PMID:30578701 PMID:9178327 PMID:9261103
TGM1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Congenital ichthyosiform erythrodermaPMID:25741868
TGM1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Lamellar ichthyosisPMID:11407995 PMID:11511296 PMID:16968736 PMID:19212342 PMID:19262603 PMID:19863506 PMID:19890349 PMID:20167857 PMID:21895619 PMID:22801880 PMID:24033266 PMID:24419105 PMID:25741868 PMID:26076875 PMID:26762237 PMID:27025581 PMID:28403434 PMID:28492532
TGM1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Lamellar ichthyosisPMID:18948357 PMID:19241467 PMID:21668430 PMID:23192619 PMID:23278109 PMID:25741868 PMID:26762237 PMID:28492532
TGM1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Lamellar ichthyosisPMID:18948357 PMID:19241467 PMID:23895935 PMID:25741868 PMID:28492532 PMID:7581379
TGM1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Lamellar ichthyosisPMID:19241467 PMID:23278109 PMID:25741868 PMID:28492532 PMID:31168818 PMID:31953843 PMID:32573669 PMID:7824952 PMID:9261103 PMID:9545389
TGM1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Lamellar ichthyosisPMID:12535215 PMID:18948357 PMID:19241467 PMID:23278109 PMID:25154629 PMID:25525159 PMID:25741868 PMID:28492532 PMID:30578701
TGM1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Lamellar ichthyosisPMID:18948357 PMID:19241467 PMID:25741868 PMID:28492532
TGM1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Lamellar ichthyosisPMID:25741868 PMID:25766764 PMID:27025581 PMID:28492532 PMID:30578701 PMID:32597326 PMID:9326318
TGM1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Lamellar ichthyosisPMID:11348475 PMID:23096117 PMID:25741868 PMID:26762237
TGM1 IAGP (Homo sapiens) or (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Lamellar ichthyosis 
TGM1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Lamellar ichthyosisPMID:10482949 PMID:20663883 PMID:22258055 PMID:24314425 PMID:25154629 PMID:25741868 PMID:26076875 PMID:28492532 PMID:7824952 PMID:9261103 PMID:9326318 PMID:9593710
TGM1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Lamellar ichthyosisPMID:19241467 PMID:23278109 PMID:25741868 PMID:28492532 PMID:31168818 PMID:32105361 PMID:33786896 PMID:34782754 PMID:7824952 PMID:9261103 PMID:9545389 PMID:9593710
TGM1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Lamellar ichthyosisPMID:18948357 PMID:19212342 PMID:19241467 PMID:19278426 PMID:20663883 PMID:22258055 PMID:24314425 PMID:25741868 PMID:26076875 PMID:27025581 PMID:28492532 PMID:31953843 PMID:7773290 PMID:7824952 PMID:9326318 PMID:9593710
TGM1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Lamellar ichthyosisPMID:10694685 PMID:20663883 PMID:22622417 PMID:23096117 PMID:25741868 PMID:27025581 PMID:28492532 PMID:31168818 PMID:9261103 PMID:9326318
TGM1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Lamellar ichthyosisPMID:19241467 PMID:22801880 PMID:23096117 PMID:25741868 PMID:28492532 PMID:30693114 PMID:31046801 PMID:31631373 PMID:32597326 PMID:9359043
TGM1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Lamellar ichthyosisPMID:12542526 PMID:25741868 PMID:28492532 PMID:35506549
TGM1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Lamellar ichthyosisPMID:11407995 PMID:11511296 PMID:14996130 PMID:16968736 PMID:19262603 PMID:19863506 PMID:20167857 PMID:21895619 PMID:24419105 PMID:25741868 PMID:26076875 PMID:27025581 PMID:28403434 PMID:28492532
TGM1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Lamellar ichthyosisPMID:25741868 PMID:26594337 PMID:28403434 PMID:28492532 PMID:31631373 PMID:34908195 PMID:9326318
TGM1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Lamellar ichthyosisPMID:10914678 PMID:16968736 PMID:19212342 PMID:22801880 PMID:25741868 PMID:28492532 PMID:9261103 PMID:9545389
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