Disease: Charcot-Marie-Tooth Disease, Recessive Intermediate A ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1842197
Disease: Charcot-Marie-Tooth Disease, Recessive Intermediate A
Charcot-Marie-Tooth Disease, Recessive Intermediate A 		0.700 GeneticVariation disease UNIPROT Ganglioside-induced differentiation associated protein 1 is a regulator of the mitochondrial network: new implications for Charcot-Marie-Tooth disease. 16172208 2005
CUI: C1842197
Disease: Charcot-Marie-Tooth Disease, Recessive Intermediate A
Charcot-Marie-Tooth Disease, Recessive Intermediate A 		0.700 GeneticVariation disease UNIPROT GDAP1, the protein causing Charcot-Marie-Tooth disease type 4A, is expressed in neurons and is associated with mitochondria. 15772096 2005
CUI: C1842197
Disease: Charcot-Marie-Tooth Disease, Recessive Intermediate A
Charcot-Marie-Tooth Disease, Recessive Intermediate A 		0.700 GermlineCausalMutation disease ORPHANET Mutations in the ganglioside-induced differentiation-associated protein-1 (GDAP1) gene in intermediate type autosomal recessive Charcot-Marie-Tooth neuropathy. 12566285 2003
CUI: C1842197
Disease: Charcot-Marie-Tooth Disease, Recessive Intermediate A
Charcot-Marie-Tooth Disease, Recessive Intermediate A 		0.700 GeneticVariation disease UNIPROT Mutations in the ganglioside-induced differentiation-associated protein-1 (GDAP1) gene in intermediate type autosomal recessive Charcot-Marie-Tooth neuropathy. 12566285 2003
CUI: C1842197
Disease: Charcot-Marie-Tooth Disease, Recessive Intermediate A
Charcot-Marie-Tooth Disease, Recessive Intermediate A 		0.700 GermlineCausalMutation disease ORPHANET Mutations in GDAP1: autosomal recessive CMT with demyelination and axonopathy. 12499475 2002
CUI: C1842197
Disease: Charcot-Marie-Tooth Disease, Recessive Intermediate A
Charcot-Marie-Tooth Disease, Recessive Intermediate A 		0.700 GeneticVariation disease UNIPROT Mutations in GDAP1: autosomal recessive CMT with demyelination and axonopathy. 12499475 2002
CUI: C1842197
Disease: Charcot-Marie-Tooth Disease, Recessive Intermediate A
Charcot-Marie-Tooth Disease, Recessive Intermediate A 		0.700 Biomarker disease GENOMICS_ENGLAND Ganglioside-induced differentiation-associated protein-1 is mutant in Charcot-Marie-Tooth disease type 4A/8q21. 11743579 2002
CUI: C1842197
Disease: Charcot-Marie-Tooth Disease, Recessive Intermediate A
Charcot-Marie-Tooth Disease, Recessive Intermediate A 		0.700 Biomarker disease GENOMICS_ENGLAND [Where time stands still]. 2937239 1985
CUI: C1842197
Disease: Charcot-Marie-Tooth Disease, Recessive Intermediate A
Charcot-Marie-Tooth Disease, Recessive Intermediate A 		0.700 CausalMutation disease CLINVAR
CUI: C1842197
Disease: Charcot-Marie-Tooth Disease, Recessive Intermediate A
Charcot-Marie-Tooth Disease, Recessive Intermediate A 		0.700 Biomarker disease GENOMICS_ENGLAND
CUI: C1842197
Disease: Charcot-Marie-Tooth Disease, Recessive Intermediate A
Charcot-Marie-Tooth Disease, Recessive Intermediate A 		0.700 Biomarker disease CTD_human