Source: GENOMICS_ENGLAND

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 Biomarker GENOMICS_ENGLAND 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
Entrez Id: 9786
Gene Symbol: KIAA0586
KIAA0586
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		0.670 Biomarker GENOMICS_ENGLAND 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