rs397515323, PDK3

N. diseases: 7
Source: ALL
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.
CHARCOT-MARIE-TOOTH DISEASE, X-LINKED DOMINANT, 6
CUI: C3806702
Disease: CHARCOT-MARIE-TOOTH DISEASE, X-LINKED DOMINANT, 6
1 0.851 0.080 X 24503479 missense variant G/A snv 0.820 1.000 3 2013 2016
Charcot-Marie-Tooth Disease
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
136 0.851 0.080 X 24503479 missense variant G/A snv 0.020 1.000 2 2016 2016
Hyperactive behavior
CUI: C0424295
Disease: Hyperactive behavior
112 0.851 0.080 X 24503479 missense variant G/A snv 0.020 1.000 2 2013 2016
Axonal neuropathy
CUI: C0270921
Disease: Axonal neuropathy
13 0.851 0.080 X 24503479 missense variant G/A snv 0.010 1.000 1 2016 2016
Peripheral Nervous System Diseases
CUI: C4721453
Disease: Peripheral Nervous System Diseases
69 0.851 0.080 X 24503479 missense variant G/A snv 0.010 1.000 1 2013 2013
Peripheral Neuropathy
CUI: C0031117
Disease: Peripheral Neuropathy
81 0.851 0.080 X 24503479 missense variant G/A snv 0.010 1.000 1 2013 2013
X-linked Charcot-Marie-Tooth disease type 6
CUI: C4706411
Disease: X-linked Charcot-Marie-Tooth disease type 6
1 0.851 0.080 X 24503479 missense variant G/A snv 0.010 1.000 1 2016 2016