rs1135402725, PDHX

N. diseases: 6
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.
Pyruvate Dehydrogenase E3-Binding Protein Deficiency
CUI: C1855553
Disease: Pyruvate Dehydrogenase E3-Binding Protein Deficiency
8 0.851 0.120 11 34995002 stop gained C/T snv 1.2E-05 0.700 0
Acidosis, Lactic
CUI: C0001125
Disease: Acidosis, Lactic
21 0.851 0.120 11 34995002 stop gained C/T snv 1.2E-05 0.010 1.000 1 2015 2015
Congenital lactic acidosis
CUI: C4025276
Disease: Congenital lactic acidosis
5 0.851 0.120 11 34995002 stop gained C/T snv 1.2E-05 0.010 1.000 1 2015 2015
Global developmental delay
CUI: C0557874
Disease: Global developmental delay
553 0.851 0.120 11 34995002 stop gained C/T snv 1.2E-05 0.010 1.000 1 2015 2015
Leigh Disease
CUI: C0023264
Disease: Leigh Disease
114 0.851 0.120 11 34995002 stop gained C/T snv 1.2E-05 0.010 1.000 1 2019 2019
Seizures
CUI: C0036572
Disease: Seizures
553 0.851 0.120 11 34995002 stop gained C/T snv 1.2E-05 0.010 1.000 1 2015 2015