DCDC2, doublecortin domain containing 2, 51473

N. diseases: 128; N. variants: 23
Disease: NEPHRONOPHTHISIS 19 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
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