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: rs121918732
rs121918732
Entrez Id: 7051
Gene Symbol: TGM1
TGM1
CUI: C4551630
Disease:
Ichthyosis Congenita I 		T 0.800 GeneticVariation CLINVAR Expanding the Genotypic Spectrum of Bathing Suit Ichthyosis. 28403434 2017
dbSNP: rs201868387
rs201868387
Entrez Id: 7051
Gene Symbol: TGM1
TGM1
CUI: C4551630
Disease:
Ichthyosis Congenita I 		A 0.800 GeneticVariation CLINVAR Expanding the Genotypic Spectrum of Bathing Suit Ichthyosis. 28403434 2017
dbSNP: rs121918716
rs121918716
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: rs121918717
rs121918717
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: rs121918718
rs121918718
Entrez Id: 7051
Gene Symbol: TGM1
TGM1
CUI: C4551630
Disease:
Ichthyosis Congenita I 		T 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: rs121918718
rs121918718
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: rs121918719
rs121918719
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: rs121918719
rs121918719
Entrez Id: 7051
Gene Symbol: TGM1
TGM1
CUI: C4551630
Disease:
Ichthyosis Congenita I 		T 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: rs121918720
rs121918720
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: rs121918720
rs121918720
Entrez Id: 7051
Gene Symbol: TGM1
TGM1
CUI: C4551630
Disease:
Ichthyosis Congenita I 		G 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: rs121918721
rs121918721
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: rs121918721
rs121918721
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: rs121918721
rs121918721
Entrez Id: 7051
Gene Symbol: TGM1
TGM1
CUI: C4551630
Disease:
Ichthyosis Congenita I 		T 0.800 GeneticVariation CLINVAR Role of molecular testing in the multidisciplinary diagnostic approach of ichthyosis. 26762237 2016
dbSNP: rs121918721
rs121918721
Entrez Id: 7051
Gene Symbol: TGM1
TGM1
CUI: C4551630
Disease:
Ichthyosis Congenita I 		T 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: rs121918722
rs121918722
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: rs121918723
rs121918723
Entrez Id: 7051
Gene Symbol: TGM1
TGM1
CUI: C4551630
Disease:
Ichthyosis Congenita I 		T 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: rs121918723
rs121918723
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: rs121918725
rs121918725
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: rs121918726
rs121918726
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: rs121918727
rs121918727
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: rs121918728
rs121918728
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: rs121918730
rs121918730
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: rs121918731
rs121918731
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: rs121918732
rs121918732
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: rs143473912
rs143473912
Entrez Id: 7051
Gene Symbol: TGM1
TGM1
CUI: C4551630
Disease:
Ichthyosis Congenita I 		T 0.800 CausalMutation CLINVAR Spectrum of Autosomal Recessive Congenital Ichthyosis in Scandinavia: Clinical Characteristics and Novel and Recurrent Mutations in 132 Patients. 27025581 2016