Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 9786
Gene Symbol: KIAA0586
KIAA0586
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis
0.670 GermlineCausalMutation ORPHANET To identify novel JS genes, we performed whole exome sequencing on 35 individuals with JS and found biallelic rare deleterious variants (RDVs) in KIAA0586, encoding a centrosomal protein required for ciliogenesis, in one individual. 26096313

2015