rs121913586, MPZ

N. diseases: 9
Source: CURATED ×
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Dejerine-Sottas Disease (disorder)
CUI: C0011195
Disease: Dejerine-Sottas Disease (disorder)
28 0.752 0.200 1 161306414 missense variant C/G;T snv 0.810 1.000 12 1993 2003
Charcot-Marie-Tooth disease, Type 2I
CUI: C3888087
Disease: Charcot-Marie-Tooth disease, Type 2I
14 0.752 0.200 1 161306414 missense variant C/G;T snv 0.800 1.000 5 1998 2004
Charcot-Marie-Tooth Disease, Dominant Intermediate D
CUI: C1843075
Disease: Charcot-Marie-Tooth Disease, Dominant Intermediate D
6 0.752 0.200 1 161306414 missense variant C/G;T snv 0.700 0
Charcot-Marie-Tooth disease, Type 2J
CUI: C1843153
Disease: Charcot-Marie-Tooth disease, Type 2J
7 0.752 0.200 1 161306414 missense variant C/G;T snv 0.700 0
Charcot-Marie-Tooth Disease, Type Ib
CUI: C0270912
Disease: Charcot-Marie-Tooth Disease, Type Ib
51 0.752 0.200 1 161306414 missense variant C/G;T snv 0.700 0
Congenital hypomyelinating neuropathy
CUI: C0393818
Disease: Congenital hypomyelinating neuropathy
1 0.752 0.200 1 161306414 missense variant C/G;T snv 0.700 0
DEJERINE-SOTTAS SYNDROME, AUTOSOMAL DOMINANT
CUI: C4016264
Disease: DEJERINE-SOTTAS SYNDROME, AUTOSOMAL DOMINANT
6 0.752 0.200 1 161306414 missense variant C/G;T snv 0.700 0
Hereditary Motor and Sensory Neuropathy Type I
CUI: C0751036
Disease: Hereditary Motor and Sensory Neuropathy Type I
84 0.752 0.200 1 161306414 missense variant C/G;T snv 0.700 0
Roussy-Levy Syndrome (disorder)
CUI: C0205713
Disease: Roussy-Levy Syndrome (disorder)
5 0.752 0.200 1 161306414 missense variant C/G;T snv 0.700 0