TGM1, transglutaminase 1, 7051

N. diseases: 117; N. variants: 88
Disease: Ichthyosis Congenita II ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3536797
Disease: Ichthyosis Congenita II
Ichthyosis Congenita II 		0.510 AlteredExpression disease BEFREE To further characterize the role of epimutations in RSS we evaluated the methylation status at both 11p15.5 imprinting control regions (ICRs): ICR1 associated with H19/IGF2 expression and ICR2 (KvDMR1) associated with CDKN1C expression in a series of 35 patients with RSS. 20082469 2010
CUI: C3536797
Disease: Ichthyosis Congenita II
Ichthyosis Congenita II 		0.510 Biomarker disease MGD Development of ichthyosiform skin compensates for defective permeability barrier function in mice lacking transglutaminase 1. 11805136 2002
CUI: C3536797
Disease: Ichthyosis Congenita II
Ichthyosis Congenita II 		0.510 Biomarker disease MGD Defective stratum corneum and early neonatal death in mice lacking the gene for transglutaminase 1 (keratinocyte transglutaminase). 9448282 1998
CUI: C3536797
Disease: Ichthyosis Congenita II
Ichthyosis Congenita II 		0.510 Biomarker disease CTD_human