DNAAF1, dynein axonemal assembly factor 1, 123872

N. diseases: 64; N. variants: 20
Disease: Seminoma ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs34777958
rs34777958
Entrez Id: 123872
Gene Symbol: DNAAF1
DNAAF1
CUI: C0036631
Disease:
Seminoma 		0.010 GeneticVariation BEFREE In humans we identified heterozygous germline LRRC50 mutations in two different pedigrees with a family history of seminomas, resulting in a nonsense Arg488* change and a missense Thr590Met change, which show reduced expression of the wild-type allele in seminomas. 23599692 2013