Disease: Cystic Kidney Disease with Ventriculomegaly ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1857423
Disease: Cystic Kidney Disease with Ventriculomegaly
Cystic Kidney Disease with Ventriculomegaly 		0.700 Biomarker disease GENOMICS_ENGLAND Diagnostic Utility of Exome Sequencing for Kidney Disease. 30586318 2019
CUI: C1857423
Disease: Cystic Kidney Disease with Ventriculomegaly
Cystic Kidney Disease with Ventriculomegaly 		0.700 Biomarker disease GENOMICS_ENGLAND Long-term clinicopathologic observation in a case of steroid-resistant nephrotic syndrome caused by a novel Crumbs homolog 2 mutation. 29473663 2018
CUI: C1857423
Disease: Cystic Kidney Disease with Ventriculomegaly
Cystic Kidney Disease with Ventriculomegaly 		0.700 GeneticVariation disease UNIPROT CRB2 mutations produce a phenotype resembling congenital nephrosis, Finnish type, with cerebral ventriculomegaly and raised alpha-fetoprotein. 25557780 2015
CUI: C1857423
Disease: Cystic Kidney Disease with Ventriculomegaly
Cystic Kidney Disease with Ventriculomegaly 		0.700 Biomarker disease GENOMICS_ENGLAND CRB2 mutations produce a phenotype resembling congenital nephrosis, Finnish type, with cerebral ventriculomegaly and raised alpha-fetoprotein. 25557780 2015
CUI: C1857423
Disease: Cystic Kidney Disease with Ventriculomegaly
Cystic Kidney Disease with Ventriculomegaly 		0.700 GermlineCausalMutation disease ORPHANET CRB2 mutations produce a phenotype resembling congenital nephrosis, Finnish type, with cerebral ventriculomegaly and raised alpha-fetoprotein. 25557780 2015
CUI: C1857423
Disease: Cystic Kidney Disease with Ventriculomegaly
Cystic Kidney Disease with Ventriculomegaly 		0.700 Biomarker disease GENOMICS_ENGLAND CRB2 mutations produce a phenotype resembling congenital nephrosis, Finnish type, with cerebral ventriculomegaly and raised alpha-fetoprotein. 25557780 2015
CUI: C1857423
Disease: Cystic Kidney Disease with Ventriculomegaly
Cystic Kidney Disease with Ventriculomegaly 		0.700 CausalMutation disease CLINVAR
CUI: C1857423
Disease: Cystic Kidney Disease with Ventriculomegaly
Cystic Kidney Disease with Ventriculomegaly 		0.700 Biomarker disease CTD_human
CUI: C1857423
Disease: Cystic Kidney Disease with Ventriculomegaly
Cystic Kidney Disease with Ventriculomegaly 		0.700 GeneticVariation disease CLINVAR