rs1569190079, PDHA1

N. diseases: 10
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.
Abnormal brain choline level by MRS
CUI: C4476566
Disease: Abnormal brain choline level by MRS
1 0.882 0.160 X 19350044 missense variant G/T snv 0.700 0
Abnormal caudate nucleus morphology
CUI: C4025711
Disease: Abnormal caudate nucleus morphology
1 0.882 0.160 X 19350044 missense variant G/T snv 0.700 0
Abnormal corpus callosum morphology
CUI: C1842581
Disease: Abnormal corpus callosum morphology
10 0.882 0.160 X 19350044 missense variant G/T snv 0.700 0
Acidosis, Lactic
CUI: C0001125
Disease: Acidosis, Lactic
21 0.882 0.160 X 19350044 missense variant G/T snv 0.700 0
Cerebral white matter hypoplasia
CUI: C4022908
Disease: Cerebral white matter hypoplasia
3 0.882 0.160 X 19350044 missense variant G/T snv 0.700 0
Diffuse white matter abnormalities
CUI: C4024923
Disease: Diffuse white matter abnormalities
4 0.882 0.160 X 19350044 missense variant G/T snv 0.700 0
Generalized hypotonia
CUI: C1858120
Disease: Generalized hypotonia
164 0.882 0.160 X 19350044 missense variant G/T snv 0.700 0
Global developmental delay
CUI: C0557874
Disease: Global developmental delay
553 0.882 0.160 X 19350044 missense variant G/T snv 0.700 0
Leukoaraiosis
CUI: C0948163
Disease: Leukoaraiosis
24 0.882 0.160 X 19350044 missense variant G/T snv 0.700 0
Pyruvate Dehydrogenase Complex Deficiency Disease
CUI: C0034345
Disease: Pyruvate Dehydrogenase Complex Deficiency Disease
4 0.882 0.160 X 19350044 missense variant G/T snv 0.700 0