rs765676223, CRB2

N. diseases: 2
Disease: Cystic Kidney Disease with Ventriculomegaly ×
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 CausalMutation CLINVAR
Cystic Kidney Disease with Ventriculomegaly
CUI: C1857423
Disease: Cystic Kidney Disease with Ventriculomegaly
0.800 GeneticVariation CLINVAR
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