PRX, periaxin, 57716

N. diseases: 75; N. variants: 21
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: rs104894708
rs104894708 		0.851 0.120 19 40395144 stop gained G/A snv 8.0E-06
CUI: C0270922
Disease: Peripheral demyelinating neuropathy
Peripheral demyelinating neuropathy 		Immune System Diseases; Nervous System Diseases 0.700 1.000 5 2001 2016
dbSNP: rs104894708
rs104894708 		0.851 0.120 19 40395144 stop gained G/A snv 8.0E-06
CUI: C0011195
Disease: Dejerine-Sottas Disease (disorder)
Dejerine-Sottas Disease (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.710 1.000 5 2001 2016
dbSNP: rs104894708
rs104894708 		0.851 0.120 19 40395144 stop gained G/A snv 8.0E-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 2004 2004
dbSNP: rs104894708
rs104894708 		0.851 0.120 19 40395144 stop gained G/A snv 8.0E-06
CUI: C0442874
Disease: Neuropathy
Neuropathy 		Nervous System Diseases 0.010 1.000 1 2004 2004
dbSNP: rs104894708
rs104894708 		0.851 0.120 19 40395144 stop gained G/A snv 8.0E-06
CUI: C3540453
Disease: CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 4F
CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 4F 		0.700 0