DCDC2, doublecortin domain containing 2, 51473

N. diseases: 128; N. variants: 23
Disease: Kidney Failure, Chronic ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs904520404
rs904520404
Entrez Id: 51473
Gene Symbol: DCDC2
DCDC2
CUI: C0022661
Disease:
Kidney Failure, Chronic 		0.010 GeneticVariation BEFREE This condition is a renal-hepatic ciliopathy with phenotypic characteristics that include hepatosplenomegaly, hepatic fibrosis with bile cholestasis, increased kidney echogenicity, and end-stage renal disease.Here, we report a 13-year-old African-Caribbean female with areas of absence of heterozygosity suggesting parental consanguinity or identity by decent due to the founder effect, harboring a novel homozygous pathogenic variant (c.383C>G, p.S128*) in exon 3 of DCDC2. 31821705 2020