CFTR, CF transmembrane conductance regulator, 1080

N. diseases: 476; N. variants: 673
Disease: Cor pulmonale ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs74597325
rs74597325
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0034072
Disease:
Cor pulmonale 		0.010 GeneticVariation BEFREE Case 4 was homozygous for the CFTR gene mutation R553X being reported in 2005 and complicated with cor pulmonale. 22992393 2014