IPO13, importin 13, 9670

N. diseases: 22; N. variants: 1
Disease: Congenital ocular coloboma (disorder) ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs746066696
rs746066696
Entrez Id: 9670
Gene Symbol: IPO13
IPO13
CUI: C0009363
Disease:
Congenital ocular coloboma (disorder) 		0.010 GeneticVariation BEFREE Here we report the identification of mutation (c.331C>T, p.R111C) in the IPO13 gene in a consanguineous family with ocular coloboma, microphthalmia, and cataract by a combination of whole-exome sequencing and homozygosity mapping. 29700284 2018