rs1425998598, BPTF

N. diseases: 19
Disease: Exocrine pancreatic insufficiency ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Exocrine pancreatic insufficiency
CUI: C0267963
Disease: Exocrine pancreatic insufficiency
0.700 GeneticVariation CLINVAR Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features. 28942966 2017