Source: GENOMICS_ENGLAND

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 440193
Gene Symbol: CCDC88C
CCDC88C
CUI: C0020255
Disease: Hydrocephalus
Hydrocephalus
0.600 Biomarker GENOMICS_ENGLAND Two novel CCDC88C mutations confirm the role of DAPLE in autosomal recessive congenital hydrocephalus. 23042809

2013

Entrez Id: 440193
Gene Symbol: CCDC88C
CCDC88C
CUI: C0020255
Disease: Hydrocephalus
Hydrocephalus
0.600 Biomarker GENOMICS_ENGLAND Disturbed Wnt Signalling due to a Mutation in CCDC88C Causes an Autosomal Recessive Non-Syndromic Hydrocephalus with Medial Diverticulum. 21031079

2010

Entrez Id: 440193
Gene Symbol: CCDC88C
CCDC88C
CUI: C0020255
Disease: Hydrocephalus
Hydrocephalus
0.600 Biomarker GENOMICS_ENGLAND Via positional cloning in a consanguineous family with autosomal recessive hydrocephalus we have now identified a homozygous splice site mutation in the CCDC88C gene as a novel cause of a complex hydrocephalic brain malformation. 21031079

2010