NDRG1, N-myc downstream regulated 1, 10397

N. diseases: 225; N. variants: 4
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: rs1060503092
rs1060503092 		1.000 0.080 8 133264546 splice donor variant C/T snv 7.0E-06
CUI: C4082197
Disease: Charcot-Marie-Tooth disease type 4
Charcot-Marie-Tooth disease type 4 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 1.000 2 2003 2013
dbSNP: rs16904882
rs16904882 		1.000 0.040 8 133286261 intron variant T/C snv 2.4E-02
CUI: C4706572
Disease: Invasive non-typhoidal salmonellosis
Invasive non-typhoidal salmonellosis 		Infections 0.700 1.000 1 2018 2018
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
dbSNP: rs119483085
rs119483085 		0.851 0.160 8 133258374 stop gained G/A snv 7.0E-06
CUI: C4082197
Disease: Charcot-Marie-Tooth disease type 4
Charcot-Marie-Tooth disease type 4 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs119483085
rs119483085 		0.851 0.160 8 133258374 stop gained G/A snv 7.0E-06
CUI: C0027888
Disease: Hereditary Motor and Sensory Neuropathies
Hereditary Motor and Sensory Neuropathies 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.010 1.000 1 2013 2013
dbSNP: rs119483085
rs119483085 		0.851 0.160 8 133258374 stop gained G/A snv 7.0E-06
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.010 1.000 1 2013 2013
dbSNP: rs119483085
rs119483085 		0.851 0.160 8 133258374 stop gained G/A snv 7.0E-06
CUI: C0270922
Disease: Peripheral demyelinating neuropathy
Peripheral demyelinating neuropathy 		Immune System Diseases; Nervous System Diseases 0.010 1.000 1 2007 2007