TARDBP, TAR DNA binding protein, 23435

N. diseases: 245; N. variants: 36
Disease: Respiratory Failure ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1145670
Disease: Respiratory Failure
Respiratory Failure 		0.110 GeneticVariation disease 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
CUI: C1145670
Disease: Respiratory Failure
Respiratory Failure 		0.110 Biomarker disease HPO