rs1131692230, PDHA1

N. diseases: 9
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.
Cerebral Palsy
CUI: C0007789
Disease: Cerebral Palsy
69 0.807 0.160 X 19353124 missense variant A/G snv 0.700 0
Global developmental delay
CUI: C0557874
Disease: Global developmental delay
553 0.807 0.160 X 19353124 missense variant A/G snv 0.700 0
hearing impairment
CUI: C1384666
Disease: hearing impairment
337 0.807 0.160 X 19353124 missense variant A/G snv 0.700 0
Hydrocephalus
CUI: C0020255
Disease: Hydrocephalus
37 0.807 0.160 X 19353124 missense variant A/G snv 0.700 0
Hypoplasia of corpus callosum
CUI: C0344482
Disease: Hypoplasia of corpus callosum
49 0.807 0.160 X 19353124 missense variant A/G snv 0.700 0
Microcephaly (physical finding)
CUI: C4551563
Disease: Microcephaly (physical finding)
246 0.807 0.160 X 19353124 missense variant A/G snv 0.700 0
Polymicrogyria
CUI: C0266464
Disease: Polymicrogyria
29 0.807 0.160 X 19353124 missense variant A/G snv 0.700 0
Pyruvate Dehydrogenase E1 Alpha Deficiency
CUI: C1839413
Disease: Pyruvate Dehydrogenase E1 Alpha Deficiency
43 0.807 0.160 X 19353124 missense variant A/G snv 0.700 0
Seizures
CUI: C0036572
Disease: Seizures
553 0.807 0.160 X 19353124 missense variant A/G snv 0.700 0