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GENE - TERM ANNOTATION REPORT

CRRD ID: 14034383
Species: Sus scrofa
CRRD Object: Gene
Symbol: PDHA1
Name: pyruvate dehydrogenase E1 alpha 1 subunit
Acc ID: DOID:630
Term: genetic disease
Definition: Diseases that are caused by genetic mutations present during embryo or fetal development, although they may be observed later in life. The mutations may be inherited from a parent's genome or they may be acquired in utero.
Definition Source(s): MESH:D030342, http://ghr.nlm.nih.gov/
Note: Use of the qualifier "multiple interactions" designates that the annotated interaction is comprised of a complex set of reactions and/or regulatory events, possibly involving additional chemicals and/or gene products.
QualifierEvidenceWithReferenceSourceNotesOriginal Reference(s)
 ISSRGD:126076009068941ClinVarClinVar Annotator: match by term: Inborn genetic diseases

PMID:10679936, PMID:1293379, PMID:15384102, PMID:20002461, PMID:21846590, PMID:21914562, PMID:23021068, PMID:25526709, PMID:26008863, PMID:26865159, PMID:26944031, PMID:27144126, PMID:27896109, PMID:28492532, PMID:3034892, PMID:7887408, PMID:9671272
 ISSRGD:126076009068941ClinVarClinVar Annotator: match by term: Inborn genetic diseases

PMID:10679936, PMID:1301207, PMID:15384102, PMID:20002125, PMID:21914562, PMID:23021068, PMID:25526709, PMID:25590979, PMID:26008863, PMID:26944031, PMID:27144126, PMID:27896109, PMID:28492532, PMID:7887408, PMID:7887409
 ISSRGD:126076009068941ClinVarClinVar Annotator: match by term: Inborn genetic diseases

PMID:10679936, PMID:1338114, PMID:15384102, PMID:1779625, PMID:1909778, PMID:21914562, PMID:23021068, PMID:25526709, PMID:26008863, PMID:26944031, PMID:27144126, PMID:27896109, PMID:7887408, PMID:8504309
 ISSRGD:126076009068941ClinVarClinVar Annotator: match by term: Inborn genetic diseases

PMID:10679936, PMID:15384102, PMID:21914562, PMID:23021068, PMID:25526709, PMID:26008863, PMID:26944031, PMID:27144126, PMID:27896109, PMID:7887408
 ISSRGD:126076009068941ClinVarClinVar Annotator: match by term: Inborn genetic diseases

PMID:28492532
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.