Disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2X ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4225253
Disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2X
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2X 		0.700 GermlineCausalMutation disease ORPHANET ALS5/SPG11/KIAA1840 mutations cause autosomal recessive axonal Charcot-Marie-Tooth disease. 26556829 2016
CUI: C4225253
Disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2X
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2X 		0.700 Biomarker disease GENOMICS_ENGLAND A practical approach to diagnosing adult onset leukodystrophies. 24357685 2014
CUI: C4225253
Disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2X
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2X 		0.700 Biomarker disease GENOMICS_ENGLAND SPG11 mutations cause Kjellin syndrome, a hereditary spastic paraplegia with thin corpus callosum and central retinal degeneration. 19194956 2009
CUI: C4225253
Disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2X
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2X 		0.700 CausalMutation disease CLINVAR Mutations in SPG11, encoding spatacsin, are a major cause of spastic paraplegia with thin corpus callosum. 17322883 2007
CUI: C4225253
Disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2X
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2X 		0.700 Biomarker disease CTD_human