DCDC2, doublecortin domain containing 2, 51473

N. diseases: 128; N. variants: 23
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4479344
Disease: SCLEROSING CHOLANGITIS, NEONATAL
SCLEROSING CHOLANGITIS, NEONATAL 		0.740 Biomarker disease BEFREE DCDC2 is a newly identified genetic disorder causing neonatal sclerosing cholangitis. 30367658 2018
CUI: C4479344
Disease: SCLEROSING CHOLANGITIS, NEONATAL
SCLEROSING CHOLANGITIS, NEONATAL 		0.740 Biomarker disease BEFREE NSC, NSC-GFP and NSC-bFGF treatment also significantly improved sensor motor function in cylinder rearing test and adhesive removal test, however, NSC-bFGF-treatment was more effective than NSC-treatment in the improvement of somatosensory function. 29316558 2018
CUI: C4479344
Disease: SCLEROSING CHOLANGITIS, NEONATAL
SCLEROSING CHOLANGITIS, NEONATAL 		0.740 Biomarker disease BEFREE Through next generation sequencing we identified mutations in the gene encoding for doublecortin domain containing 2 (DCDC2) protein in a group of NSC children. 27469900 2016
CUI: C4479344
Disease: SCLEROSING CHOLANGITIS, NEONATAL
SCLEROSING CHOLANGITIS, NEONATAL 		0.740 GeneticVariation disease UNIPROT DCDC2 Mutations Cause Neonatal Sclerosing Cholangitis. 27319779 2016
CUI: C4479344
Disease: SCLEROSING CHOLANGITIS, NEONATAL
SCLEROSING CHOLANGITIS, NEONATAL 		0.740 CausalMutation disease CLINVAR NSC patients in substantial proportion harbour mutations in DCDC2. 27469900 2016
CUI: C4479344
Disease: SCLEROSING CHOLANGITIS, NEONATAL
SCLEROSING CHOLANGITIS, NEONATAL 		0.740 GeneticVariation disease BEFREE This is the first report of DCDC2 mutations in NSC. 27319779 2016
CUI: C4479344
Disease: SCLEROSING CHOLANGITIS, NEONATAL
SCLEROSING CHOLANGITIS, NEONATAL 		0.740 Biomarker disease GENOMICS_ENGLAND NSC patients in substantial proportion harbour mutations in DCDC2. 27469900 2016
CUI: C4479344
Disease: SCLEROSING CHOLANGITIS, NEONATAL
SCLEROSING CHOLANGITIS, NEONATAL 		0.740 GeneticVariation disease UNIPROT NSC patients in substantial proportion harbour mutations in DCDC2. 27469900 2016
CUI: C4479344
Disease: SCLEROSING CHOLANGITIS, NEONATAL
SCLEROSING CHOLANGITIS, NEONATAL 		0.740 Biomarker disease GENOMICS_ENGLAND DCDC2 mutations cause a renal-hepatic ciliopathy by disrupting Wnt signaling. 25557784 2015
CUI: C4479344
Disease: SCLEROSING CHOLANGITIS, NEONATAL
SCLEROSING CHOLANGITIS, NEONATAL 		0.740 Biomarker disease CTD_human
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
CUI: C4015542
Disease: NEPHRONOPHTHISIS 19
NEPHRONOPHTHISIS 19 		0.610 GeneticVariation disease BEFREE Nephronophthisis-19 (NPHP19) due to truncating mutations in the DCDC2 gene has only been described previously in two patients. 31821705 2020
CUI: C4015542
Disease: NEPHRONOPHTHISIS 19
NEPHRONOPHTHISIS 19 		0.610 Biomarker disease GENOMICS_ENGLAND Mutations in DCDC2 (doublecortin domain containing protein 2) in neonatal sclerosing cholangitis. 27469900 2016
CUI: C4015542
Disease: NEPHRONOPHTHISIS 19
NEPHRONOPHTHISIS 19 		0.610 Biomarker disease GENOMICS_ENGLAND DCDC2 mutations cause a renal-hepatic ciliopathy by disrupting Wnt signaling. 25557784 2015
CUI: C4015542
Disease: NEPHRONOPHTHISIS 19
NEPHRONOPHTHISIS 19 		0.610 Biomarker disease GENOMICS_ENGLAND Exploring the transcriptome of ciliated cells using in silico dissection of human tissues. 22558177 2012
CUI: C4015542
Disease: NEPHRONOPHTHISIS 19
NEPHRONOPHTHISIS 19 		0.610 GeneticVariation disease CLINVAR
CUI: C4015542
Disease: NEPHRONOPHTHISIS 19
NEPHRONOPHTHISIS 19 		0.610 Biomarker disease CTD_human
CUI: C4015542
Disease: NEPHRONOPHTHISIS 19
NEPHRONOPHTHISIS 19 		0.610 CausalMutation disease CLINVAR
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness 		0.410 CausalMutation disease CLINVAR 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: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness 		0.410 Biomarker disease CLINGEN 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: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness 		0.410 Biomarker disease CLINGEN Mutation of Dcdc2 in mice leads to impairments in auditory processing and memory ability. 25130614 2014
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness 		0.410 Biomarker disease CLINGEN Exploring the transcriptome of ciliated cells using in silico dissection of human tissues. 22558177 2012