Disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2DD ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4747974
Disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2DD
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2DD 		0.700 GermlineCausalMutation disease ORPHANET Mutations in ATP1A1 Cause Dominant Charcot-Marie-Tooth Type 2. 29499166 2018
CUI: C4747974
Disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2DD
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2DD 		0.700 Biomarker disease GENOMICS_ENGLAND Germline De Novo Mutations in ATP1A1 Cause Renal Hypomagnesemia, Refractory Seizures, and Intellectual Disability. 30388404 2018
CUI: C4747974
Disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2DD
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2DD 		0.700 Biomarker disease GENOMICS_ENGLAND Mutations in ATP1A1 Cause Dominant Charcot-Marie-Tooth Type 2. 29499166 2018
CUI: C4747974
Disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2DD
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2DD 		0.700 GeneticVariation disease UNIPROT Mutations in ATP1A1 Cause Dominant Charcot-Marie-Tooth Type 2. 29499166 2018
CUI: C4747974
Disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2DD
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2DD 		0.700 CausalMutation disease CLINVAR