DCDC2, doublecortin domain containing 2, 51473

N. diseases: 128; N. variants: 23
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 66 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1857750
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 66
DEAFNESS, AUTOSOMAL RECESSIVE 66 		0.700 CausalMutation disease CLINVAR Mutations in DCDC2 (doublecortin domain containing protein 2) in neonatal sclerosing cholangitis. 27469900 2016
CUI: C1857750
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 66
DEAFNESS, AUTOSOMAL RECESSIVE 66 		0.700 GeneticVariation disease UNIPROT A missense mutation in DCDC2 causes human recessive deafness DFNB66, likely by interfering with sensory hair cell and supporting cell cilia length regulation. 25601850 2015
CUI: C1857750
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 66
DEAFNESS, AUTOSOMAL RECESSIVE 66 		0.700 Biomarker disease GENOMICS_ENGLAND DCDC2 mutations cause a renal-hepatic ciliopathy by disrupting Wnt signaling. 25557784 2015
CUI: C1857750
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 66
DEAFNESS, AUTOSOMAL RECESSIVE 66 		0.700 Biomarker disease CTD_human