rs121918719, TGM1

N. diseases: 2
Disease: Ichthyosis Congenita I ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Ichthyosis Congenita I
CUI: C4551630
Disease: Ichthyosis Congenita I
0.800 GeneticVariation UNIPROT Identification and functional characterization of a novel transglutaminase 1 gene mutation associated with autosomal recessive congenital ichthyosis. 26220141 2016
Ichthyosis Congenita I
CUI: C4551630
Disease: Ichthyosis Congenita I
0.800 GeneticVariation CLINVAR Spectrum of Autosomal Recessive Congenital Ichthyosis in Scandinavia: Clinical Characteristics and Novel and Recurrent Mutations in 132 Patients. 27025581 2016
Ichthyosis Congenita I
CUI: C4551630
Disease: Ichthyosis Congenita I
0.800 GeneticVariation CLINVAR Long-term faithful recapitulation of transglutaminase 1-deficient lamellar ichthyosis in a skin-humanized mouse model, and insights from proteomic studies. 22437313 2012
Ichthyosis Congenita I
CUI: C4551630
Disease: Ichthyosis Congenita I
0.800 GeneticVariation UNIPROT Genotypic and clinical spectrum of self-improving collodion ichthyosis: ALOX12B, ALOXE3, and TGM1 mutations in Scandinavian patients. 19890349 2010
Ichthyosis Congenita I
CUI: C4551630
Disease: Ichthyosis Congenita I
0.800 GeneticVariation CLINVAR Transglutaminase-1 gene mutations in autosomal recessive congenital ichthyosis: summary of mutations (including 23 novel) and modeling of TGase-1. 19241467 2009
Ichthyosis Congenita I
CUI: C4551630
Disease: Ichthyosis Congenita I
0.800 GeneticVariation CLINVAR Bathing suit ichthyosis is caused by transglutaminase-1 deficiency: evidence for a temperature-sensitive phenotype. 16968736 2006
Ichthyosis Congenita I
CUI: C4551630
Disease: Ichthyosis Congenita I
0.800 GeneticVariation UNIPROT Novel mutations of the transglutaminase 1 gene in lamellar ichthyosis. 11511296 2001
Ichthyosis Congenita I
CUI: C4551630
Disease: Ichthyosis Congenita I
0.800 GeneticVariation UNIPROT Novel mutations of TGM1 in a child with congenital ichthyosiform erythroderma. 11251583 2001
Ichthyosis Congenita I
CUI: C4551630
Disease: Ichthyosis Congenita I
0.800 GeneticVariation CLINVAR Transglutaminase 1 mutations in lamellar ichthyosis. Loss of activity due to failure of activation by proteolytic processing. 9593710 1998
Ichthyosis Congenita I
CUI: C4551630
Disease: Ichthyosis Congenita I
0.800 GeneticVariation UNIPROT Transglutaminase 1 mutations in autosomal recessive congenital ichthyosis: private and recurrent mutations in an isolated population. 9326318 1997
Ichthyosis Congenita I
CUI: C4551630
Disease: Ichthyosis Congenita I
0.800 GeneticVariation UNIPROT Mutations of keratinocyte transglutaminase in lamellar ichthyosis. 7824952 1995
Ichthyosis Congenita I
CUI: C4551630
Disease: Ichthyosis Congenita I
0.800 GeneticVariation UNIPROT Mutations in the gene for transglutaminase 1 in autosomal recessive lamellar ichthyosis. 7773290 1995
Ichthyosis Congenita I
CUI: C4551630
Disease: Ichthyosis Congenita I
0.800 GeneticVariation CLINVAR Mutations in the gene for transglutaminase 1 in autosomal recessive lamellar ichthyosis. 7773290 1995
Ichthyosis Congenita I
CUI: C4551630
Disease: Ichthyosis Congenita I
0.800 CausalMutation CLINVAR