DIAPH1, diaphanous related formin 1, 1729

N. diseases: 71; N. variants: 12
Disease: Bronchiectasis ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs730882242
rs730882242
Entrez Id: 1729
Gene Symbol: DIAPH1
DIAPH1
CUI: C0006267
Disease:
Bronchiectasis 		0.010 GeneticVariation BEFREE Recently, however, a homozygous nonsense DIAPH1 mutation (c.2332C4T; p.Q778X) was reported in five siblings in a single family affected by microcephaly, blindness, early onset seizures, developmental delay, and bronchiectasis. 26463574 2016