DCDC2, doublecortin domain containing 2, 51473

N. diseases: 128; N. variants: 23
Disease: SCLEROSING CHOLANGITIS, NEONATAL ×
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