TGM1, transglutaminase 1, 7051

N. diseases: 117; N. variants: 88
Disease: Self-Healing Collodion Baby ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1855789
Disease: Self-Healing Collodion Baby
Self-Healing Collodion Baby 		0.510 GeneticVariation disease BEFREE SHCB/SICI was initially associated with mutations in the gene TGM1. 26646773 2017
CUI: C1855789
Disease: Self-Healing Collodion Baby
Self-Healing Collodion Baby 		0.510 GermlineCausalMutation disease ORPHANET Genotypic and clinical spectrum of self-improving collodion ichthyosis: ALOX12B, ALOXE3, and TGM1 mutations in Scandinavian patients. 19890349 2010
CUI: C1855789
Disease: Self-Healing Collodion Baby
Self-Healing Collodion Baby 		0.510 GermlineCausalMutation disease ORPHANET In two self-healing collodion baby siblings with markedly diminished epidermal transglutaminase 1 activity we found the compound heterozygous transglutaminase 1 mutations G278R and D490G. 12542526 2003
CUI: C1855789
Disease: Self-Healing Collodion Baby
Self-Healing Collodion Baby 		0.510 Biomarker disease MGD Development of ichthyosiform skin compensates for defective permeability barrier function in mice lacking transglutaminase 1. 11805136 2002
CUI: C1855789
Disease: Self-Healing Collodion Baby
Self-Healing Collodion Baby 		0.510 Biomarker disease MGD Defective stratum corneum and early neonatal death in mice lacking the gene for transglutaminase 1 (keratinocyte transglutaminase). 9448282 1998