DCC, DCC netrin 1 receptor, 1630

N. diseases: 279; N. variants: 101
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0454455
Disease: Mirror movements disorder
Mirror movements disorder
0.180 GeneticVariation disease BEFREE Summary of literature data describing heterozygous loss-of-function variants in DCC (n = 61) revealed 63.9% penetrance for mirror movements, 9.8% for ACC, and 5% for both. 31697046 2020
CUI: C0454455
Disease: Mirror movements disorder
Mirror movements disorder
0.180 AlteredExpression disease BEFREE Diverse connectivity abnormalities were identified in mutation carriers with and without mirror movements, but corticospinal effects and decreased peripheral DCC mRNA appeared driven by the mirror movement phenotype.ANN NEUROL 2019;85:433-442. 30666715 2019
CUI: C0454455
Disease: Mirror movements disorder
Mirror movements disorder
0.180 GeneticVariation disease BEFREE Novel DCC variants in congenital mirror movements and evaluation of disease-associated missense variants. 29366874 2018
CUI: C0454455
Disease: Mirror movements disorder
Mirror movements disorder
0.180 GeneticVariation disease BEFREE DCC mutations result in variable dominant phenotypes with decreased penetrance, including mirror movements and ACC associated with a favorable developmental prognosis. 28250454 2017
CUI: C0454455
Disease: Mirror movements disorder
Mirror movements disorder
0.180 CausalMutation disease CLINVAR Biallelic mutations in human DCC cause developmental split-brain syndrome. 28250456 2017
CUI: C0454455
Disease: Mirror movements disorder
Mirror movements disorder
0.180 GeneticVariation disease BEFREE Congenital mirror movements: phenotypes associated with DCC and RAD51 mutations. 25813273 2015
CUI: C0454455
Disease: Mirror movements disorder
Mirror movements disorder
0.180 CausalMutation disease CLINVAR Congenital mirror movements: mutational analysis of RAD51 and DCC in 26 cases. 24808016 2014
CUI: C0454455
Disease: Mirror movements disorder
Mirror movements disorder
0.180 GeneticVariation disease BEFREE Using a linkage analysis and a candidate gene approach, two genes have been implicated in congenital MRMV disorder to date: DCC on 18q21.2 (MRMV1), which encodes a netrin receptor, and RAD51 on 15q15.1 (MRMV2), which is involved in the maintenance of genomic integrity. 25098561 2014
CUI: C0454455
Disease: Mirror movements disorder
Mirror movements disorder
0.180 GeneticVariation disease BEFREE A novel DCC mutation and genetic heterogeneity in congenital mirror movements. 21242494 2011
CUI: C0454455
Disease: Mirror movements disorder
Mirror movements disorder
0.180 CausalMutation disease CLINVAR A novel DCC mutation and genetic heterogeneity in congenital mirror movements. 21242494 2011
CUI: C0454455
Disease: Mirror movements disorder
Mirror movements disorder
0.180 CausalMutation disease CLINVAR Mutations in DCC cause congenital mirror movements. 20431009 2010
CUI: C0454455
Disease: Mirror movements disorder
Mirror movements disorder
0.180 GeneticVariation disease BEFREE Mutations in DCC cause congenital mirror movements. 20431009 2010
CUI: C0454455
Disease: Mirror movements disorder
Mirror movements disorder
0.180 Biomarker disease HPO