TGM1, transglutaminase 1, 7051

N. diseases: 117; N. variants: 88
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs143473912
rs143473912
Entrez Id: 7051
Gene Symbol: TGM1
TGM1
CUI: C4551630
Disease:
Ichthyosis Congenita I 		T 0.800 CausalMutation CLINVAR Activation of Molecular Signatures for Antimicrobial and Innate Defense Responses in Skin with Transglutaminase 1 Deficiency. 27442430 2016
dbSNP: rs143473912
rs143473912
Entrez Id: 7051
Gene Symbol: TGM1
TGM1
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
dbSNP: rs147916609
rs147916609
Entrez Id: 7051
Gene Symbol: TGM1
TGM1
CUI: C4551630
Disease:
Ichthyosis Congenita I 		C 0.800 GeneticVariation CLINVAR Spectrum of Autosomal Recessive Congenital Ichthyosis in Scandinavia: Clinical Characteristics and Novel and Recurrent Mutations in 132 Patients. 27025581 2016
dbSNP: rs147916609
rs147916609
Entrez Id: 7051
Gene Symbol: TGM1
TGM1
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
dbSNP: rs147916609
rs147916609
Entrez Id: 7051
Gene Symbol: TGM1
TGM1
CUI: C4551630
Disease:
Ichthyosis Congenita I 		C 0.800 GeneticVariation CLINVAR Role of molecular testing in the multidisciplinary diagnostic approach of ichthyosis. 26762237 2016
dbSNP: rs200491579
rs200491579
Entrez Id: 7051
Gene Symbol: TGM1
TGM1
CUI: C4551630
Disease:
Ichthyosis Congenita I 		T 0.800 GeneticVariation CLINVAR Autosomal recessive congenital ichthyoses in the Czech Republic. 25998749 2016
dbSNP: rs201853046
rs201853046
Entrez Id: 7051
Gene Symbol: TGM1
TGM1
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
dbSNP: rs201853046
rs201853046
Entrez Id: 7051
Gene Symbol: TGM1
TGM1
CUI: C4551630
Disease:
Ichthyosis Congenita I 		A 0.800 GeneticVariation CLINVAR Isotretinoin treatment of autosomal recessive congenital ichthyosis complicated by coexisting dysferlinopathy. 26620441 2016
dbSNP: rs201868387
rs201868387
Entrez Id: 7051
Gene Symbol: TGM1
TGM1
CUI: C4551630
Disease:
Ichthyosis Congenita I 		A 0.800 GeneticVariation CLINVAR Spectrum of Autosomal Recessive Congenital Ichthyosis in Scandinavia: Clinical Characteristics and Novel and Recurrent Mutations in 132 Patients. 27025581 2016
dbSNP: rs201868387
rs201868387
Entrez Id: 7051
Gene Symbol: TGM1
TGM1
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
dbSNP: rs397514523
rs397514523
Entrez Id: 7051
Gene Symbol: TGM1
TGM1
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
dbSNP: rs397514525
rs397514525
Entrez Id: 7051
Gene Symbol: TGM1
TGM1
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
dbSNP: rs398122901
rs398122901
Entrez Id: 7051
Gene Symbol: TGM1
TGM1
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
dbSNP: rs531650682
rs531650682
Entrez Id: 7051
Gene Symbol: TGM1
TGM1
CUI: C4551630
Disease:
Ichthyosis Congenita I 		A 0.800 CausalMutation CLINVAR Identification and functional characterization of a novel transglutaminase 1 gene mutation associated with autosomal recessive congenital ichthyosis. 26220141 2016
dbSNP: rs531650682
rs531650682
Entrez Id: 7051
Gene Symbol: TGM1
TGM1
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
dbSNP: rs531650682
rs531650682
Entrez Id: 7051
Gene Symbol: TGM1
TGM1
CUI: C4551630
Disease:
Ichthyosis Congenita I 		A 0.800 CausalMutation CLINVAR Spectrum of Autosomal Recessive Congenital Ichthyosis in Scandinavia: Clinical Characteristics and Novel and Recurrent Mutations in 132 Patients. 27025581 2016
dbSNP: rs779287673
rs779287673
Entrez Id: 7051
Gene Symbol: TGM1
TGM1
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
dbSNP: rs779287673
rs779287673
Entrez Id: 7051
Gene Symbol: TGM1
TGM1
CUI: C4551630
Disease:
Ichthyosis Congenita I 		C 0.800 CausalMutation CLINVAR Spectrum of Autosomal Recessive Congenital Ichthyosis in Scandinavia: Clinical Characteristics and Novel and Recurrent Mutations in 132 Patients. 27025581 2016
dbSNP: rs878853259
rs878853259
Entrez Id: 7051
Gene Symbol: TGM1
TGM1
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
dbSNP: rs121918716
rs121918716
Entrez Id: 7051
Gene Symbol: TGM1
TGM1
CUI: C4551630
Disease:
Ichthyosis Congenita I 		A 0.800 GeneticVariation CLINVAR Prenatal Screening for Bathing-suit Ichthyosis After Diagnosis in an Older Sibling. 26076875 2015
dbSNP: rs121918716
rs121918716
Entrez Id: 7051
Gene Symbol: TGM1
TGM1
CUI: C4551630
Disease:
Ichthyosis Congenita I 		A 0.800 GeneticVariation CLINVAR Mutations of transglutaminase-1 in Chinese patients with autosomal recessive congenital ichthyosis: a case report with clinical and genetic analysis of Chinese cases reported in literature. 25154629 2015
dbSNP: rs121918721
rs121918721
Entrez Id: 7051
Gene Symbol: TGM1
TGM1
CUI: C4551630
Disease:
Ichthyosis Congenita I 		T 0.800 GeneticVariation CLINVAR RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. 25525159 2015
dbSNP: rs121918721
rs121918721
Entrez Id: 7051
Gene Symbol: TGM1
TGM1
CUI: C4551630
Disease:
Ichthyosis Congenita I 		A 0.800 GeneticVariation CLINVAR Mutation study for 9 genes in 23 unrelated patients with autosomal recessive congenital ichthyosis in Japan and Malaysia. 25766764 2015
dbSNP: rs121918732
rs121918732
Entrez Id: 7051
Gene Symbol: TGM1
TGM1
CUI: C4551630
Disease:
Ichthyosis Congenita I 		T 0.800 GeneticVariation CLINVAR Case Report: Whole exome sequencing helps in accurate molecular diagnosis in siblings with a rare co-occurrence of paternally inherited 22q12 duplication and autosomal recessive non-syndromic ichthyosis. 26594337 2015
dbSNP: rs121918731
rs121918731
Entrez Id: 7051
Gene Symbol: TGM1
TGM1
CUI: C4551630
Disease:
Ichthyosis Congenita I 		A 0.800 GeneticVariation CLINVAR Novel TGM1 missense mutation p.Arg727Gln in a case of self-healing collodion baby. 24419105 2014