TARDBP, TAR DNA binding protein, 23435

N. diseases: 245; N. variants: 36
Disease: Respiratory Failure ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs80356733
rs80356733
Entrez Id: 23435
Gene Symbol: TARDBP
TARDBP
CUI: C1145670
Disease:
Respiratory Failure 		0.010 GeneticVariation BEFREE We identified 2 missense mutations (G348C and the novel N352S) in TARDBP in 2 small kindreds with a hereditary form of ALS with early spinal onset resulting in fatal respiratory insufficiency without clinical relevant bulbar symptoms or signs of cognitive impairment. 18779421 2008
dbSNP: rs80356734
rs80356734
Entrez Id: 23435
Gene Symbol: TARDBP
TARDBP
CUI: C1145670
Disease:
Respiratory Failure 		0.010 GeneticVariation BEFREE We identified 2 missense mutations (G348C and the novel N352S) in TARDBP in 2 small kindreds with a hereditary form of ALS with early spinal onset resulting in fatal respiratory insufficiency without clinical relevant bulbar symptoms or signs of cognitive impairment. 18779421 2008