rs765676223, CRB2

N. diseases: 2
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Cystic Kidney Disease with Ventriculomegaly
CUI: C1857423
Disease: Cystic Kidney Disease with Ventriculomegaly
0.800 GeneticVariation UNIPROT CRB2 mutations produce a phenotype resembling congenital nephrosis, Finnish type, with cerebral ventriculomegaly and raised alpha-fetoprotein. 25557780 2015
Cystic Kidney Disease with Ventriculomegaly
CUI: C1857423
Disease: Cystic Kidney Disease with Ventriculomegaly
0.800 CausalMutation CLINVAR
Cystic Kidney Disease with Ventriculomegaly
CUI: C1857423
Disease: Cystic Kidney Disease with Ventriculomegaly
0.800 GeneticVariation CLINVAR
Microcysts
CUI: C1513269
Disease: Microcysts
0.010 GeneticVariation BEFREE Two fetuses with cerebral ventriculomegaly and renal microcysts were compound heterozygotes for p.Asn800Lys and p.Trp759Ter, one fetus with renal microcysts was a compound heterozygote for p.Glu643Ala and p.Asn800Lys, and one child with cerebral ventriculomegaly, periventricular heterotopias, echogenic kidneys, and renal failure was homozygous for p.Arg633Trp in CRB2. 25557780 2015