TARDBP, TAR DNA binding protein, 23435

N. diseases: 245; N. variants: 36
Disease: Childhood Neuroblastoma ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs367543041
rs367543041
Entrez Id: 23435
Gene Symbol: TARDBP
TARDBP
CUI: C4086165
Disease:
Childhood Neuroblastoma 		0.010 GeneticVariation BEFREE In the current study, we analyzed protein turnover and subcellular distribution of wild-type TDP-43 and two disease-associated mutants (G298S and A382T) in human neuroblastoma SH-SY5Y cells stably expressing TDP-43 with a C-terminal tag. 24477737 2014
dbSNP: rs4884357
rs4884357
Entrez Id: 23435
Gene Symbol: TARDBP
TARDBP
CUI: C4086165
Disease:
Childhood Neuroblastoma 		0.010 GeneticVariation BEFREE In the current study, we analyzed protein turnover and subcellular distribution of wild-type TDP-43 and two disease-associated mutants (G298S and A382T) in human neuroblastoma SH-SY5Y cells stably expressing TDP-43 with a C-terminal tag. 24477737 2014