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.
ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 1
CUI: C4551486
Disease: ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 1
5 0.882 0.080 1 34784887 missense variant G/A;C snv 1.2E-05 0.800 1.000 3 1998 2000
Erythrokeratoderma
CUI: C0432330
Disease: Erythrokeratoderma
1 0.882 0.080 1 34784887 missense variant G/A;C snv 1.2E-05 0.010 1.000 1 1999 1999
Erythrokeratodermia variabilis
CUI: C0265961
Disease: Erythrokeratodermia variabilis
8 0.882 0.080 1 34784887 missense variant G/A;C snv 1.2E-05 0.010 1.000 1 2002 2002
Peripheral Nervous System Diseases
CUI: C4721453
Disease: Peripheral Nervous System Diseases
69 0.882 0.080 1 34784887 missense variant G/A;C snv 1.2E-05 0.010 1.000 1 2009 2009
Peripheral Neuropathy
CUI: C0031117
Disease: Peripheral Neuropathy
81 0.882 0.080 1 34784887 missense variant G/A;C snv 1.2E-05 0.010 1.000 1 2009 2009