WDR19, WD repeat domain 19, 57728

N. diseases: 143; N. variants: 31
Disease: NEPHRONOPHTHISIS 13 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs748656635
rs748656635
Entrez Id: 57728
Gene Symbol: WDR19
WDR19
CUI: C3280612
Disease:
NEPHRONOPHTHISIS 13 		TA 0.700 CausalMutation CLINVAR WDR19: an ancient, retrograde, intraflagellar ciliary protein is mutated in autosomal recessive retinitis pigmentosa and in Senior-Loken syndrome. 23683095 2013
dbSNP: rs748656635
rs748656635
Entrez Id: 57728
Gene Symbol: WDR19
WDR19
CUI: C3280612
Disease:
NEPHRONOPHTHISIS 13 		TA 0.700 CausalMutation CLINVAR Identification of 99 novel mutations in a worldwide cohort of 1,056 patients with a nephronophthisis-related ciliopathy. 23559409 2013