KIFBP, kinesin family binding protein, 26128

N. diseases: 83; N. variants: 5
Disease: Goldberg-Shprintzen megacolon syndrome ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1293340864
rs1293340864
Entrez Id: 26128
Gene Symbol: KIFBP
KIFBP
CUI: C1836123
Disease:
Goldberg-Shprintzen megacolon syndrome 		T 0.700 CausalMutation CLINVAR Association of a Novel Nonsense Mutation in KIAA1279 with Goldberg-Shprintzen Syndrome. 28277559 2017