rs387907097, TGM6

N. diseases: 2
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
SPINOCEREBELLAR ATAXIA 35
CUI: C3888031
Disease: SPINOCEREBELLAR ATAXIA 35
0.800 GeneticVariation UNIPROT Exome sequencing and network analysis identifies shared mechanisms underlying spinocerebellar ataxia. 29053796 2017
SPINOCEREBELLAR ATAXIA 35
CUI: C3888031
Disease: SPINOCEREBELLAR ATAXIA 35
0.800 GeneticVariation UNIPROT Spinocerebellar ataxia 35: novel mutations in TGM6 with clinical and genetic characterization. 25253745 2014
SPINOCEREBELLAR ATAXIA 35
CUI: C3888031
Disease: SPINOCEREBELLAR ATAXIA 35
0.800 GeneticVariation UNIPROT Spinocerebellar ataxia type 35 (SCA35)-associated transglutaminase 6 mutants sensitize cells to apoptosis. 23206699 2013
SPINOCEREBELLAR ATAXIA 35
CUI: C3888031
Disease: SPINOCEREBELLAR ATAXIA 35
0.800 GeneticVariation UNIPROT Whole exome sequencing identifies a novel mutation in the transglutaminase 6 gene for spinocerebellar ataxia in a Chinese family. 22554020 2013
SPINOCEREBELLAR ATAXIA 35
CUI: C3888031
Disease: SPINOCEREBELLAR ATAXIA 35
0.800 CausalMutation CLINVAR TGM6 identified as a novel causative gene of spinocerebellar ataxias using exome sequencing. 21106500 2010
SPINOCEREBELLAR ATAXIA 35
CUI: C3888031
Disease: SPINOCEREBELLAR ATAXIA 35
0.800 GeneticVariation UNIPROT TGM6 identified as a novel causative gene of spinocerebellar ataxias using exome sequencing. 21106500 2010
Leukemia, Myelocytic, Acute
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
0.700 CausalMutation CLINVAR