CFTR, CF transmembrane conductance regulator, 1080

N. diseases: 27; N. variants: 569
Disease: Hereditary pancreatitis ×
Source: CLINVAR ×
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0238339
Disease: Hereditary pancreatitis
Hereditary pancreatitis 		0.730 CausalMutation disease CLINVAR Combined bicarbonate conductance-impairing variants in CFTR and SPINK1 variants are associated with chronic pancreatitis in patients without cystic fibrosis. 20977904 2011
CUI: C0238339
Disease: Hereditary pancreatitis
Hereditary pancreatitis 		0.730 GeneticVariation disease CLINVAR