NDRG1, N-myc downstream regulated 1, 10397

N. diseases: 225; N. variants: 4
Disease: CHARCOT-MARIE-TOOTH DISEASE, TYPE 4D ×
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs119483085
rs119483085 		0.851 0.160 8 133258374 stop gained G/A snv 7.0E-06
CUI: C1832334
Disease: CHARCOT-MARIE-TOOTH DISEASE, TYPE 4D
CHARCOT-MARIE-TOOTH DISEASE, TYPE 4D 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.730 1.000 3 2007 2017
dbSNP: rs11575976
rs11575976 		1.000 0.120 8 133254596 splice acceptor variant C/G;T snv 4.0E-06
CUI: C1832334
Disease: CHARCOT-MARIE-TOOTH DISEASE, TYPE 4D
CHARCOT-MARIE-TOOTH DISEASE, TYPE 4D 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 0