STX1A, syntaxin 1A, 6804

N. diseases: 74; N. variants: 9
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis
0.310 GeneticVariation disease BEFREE In conclusion, we demonstrate the clinical relevance of STX1A variants in CF, and evidence the functional relevance of STX1A variant rs2228607 at molecular level. 23572023 2013
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis
0.310 GermlineModifyingMutation disease ORPHANET In conclusion, we demonstrate the clinical relevance of STX1A variants in CF, and evidence the functional relevance of STX1A variant rs2228607 at molecular level. 23572023 2013