MORC2, MORC family CW-type zinc finger 2, 22880

N. diseases: 83; N. variants: 10
Disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2Z ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4225243
Disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2Z
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2Z 		0.700 GeneticVariation disease UNIPROT Neuropathic MORC2 mutations perturb GHKL ATPase dimerization dynamics and epigenetic silencing by multiple structural mechanisms. 29440755 2018
CUI: C4225243
Disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2Z
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2Z 		0.700 GeneticVariation disease UNIPROT Hyperactivation of HUSH complex function by Charcot-Marie-Tooth disease mutation in MORC2. 28581500 2017
CUI: C4225243
Disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2Z
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2Z 		0.700 GermlineCausalMutation disease ORPHANET Mutations in the MORC2 gene cause axonal Charcot-Marie-Tooth disease. 26497905 2016
CUI: C4225243
Disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2Z
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2Z 		0.700 Biomarker disease GENOMICS_ENGLAND MORC2 mutations cause axonal Charcot-Marie-Tooth disease with pyramidal signs. 26659848 2016
CUI: C4225243
Disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2Z
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2Z 		0.700 CausalMutation disease CLINVAR A mathematical model for the spread of west nile virus in migratory and resident birds. 27105987 2016
CUI: C4225243
Disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2Z
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2Z 		0.700 GeneticVariation disease UNIPROT MORC2 mutations cause axonal Charcot-Marie-Tooth disease with pyramidal signs. 26659848 2016
CUI: C4225243
Disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2Z
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2Z 		0.700 Biomarker disease GENOMICS_ENGLAND MORC2 mutation causes severe spinal muscular atrophy-phenotype, cerebellar atrophy, and diaphragmatic paralysis. 27794525 2016
CUI: C4225243
Disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2Z
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2Z 		0.700 CausalMutation disease CLINVAR MORC2 mutations cause axonal Charcot-Marie-Tooth disease with pyramidal signs. 26659848 2016
CUI: C4225243
Disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2Z
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2Z 		0.700 CausalMutation disease CLINVAR Clinico-genetics in Korean Charcot-Marie-Tooth disease type 2Z with MORC2 mutations. 27105897 2016
CUI: C4225243
Disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2Z
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2Z 		0.700 CausalMutation disease CLINVAR Mutations in the MORC2 gene cause axonal Charcot-Marie-Tooth disease. 26497905 2016
CUI: C4225243
Disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2Z
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2Z 		0.700 GeneticVariation disease UNIPROT Mutations in the MORC2 gene cause axonal Charcot-Marie-Tooth disease. 26497905 2016
CUI: C4225243
Disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2Z
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2Z 		0.700 CausalMutation disease CLINVAR Severe axonal Charcot-Marie-Tooth disease with proximal weakness caused by de novo mutation in the MORC2 gene. 26912637 2016
CUI: C4225243
Disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2Z
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2Z 		0.700 GeneticVariation disease CLINVAR
CUI: C4225243
Disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2Z
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2Z 		0.700 Biomarker disease CTD_human
CUI: C4225243
Disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2Z
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2Z 		0.700 Biomarker disease GENOMICS_ENGLAND