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GENE - TERM ANNOTATION REPORT

RGD ID: 1352150
Species: Homo sapiens
RGD Object: Gene
Symbol: HEXA
Name: hexosaminidase subunit alpha
Acc ID: DOID:3321
Term: GM2 gangliosidosis
Definition: A gangliosidosis that is characterized by excessive accumulation of ganglioside GM2 and related glycolipids in the lysosomes. (DO)
Definition Source(s): https://ghr.nlm.nih.gov/condition/gm2-gangliosidosis-ab-variant "DO" "DO"
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.
Object SymbolQualifierEvidenceWithReferenceSourceNotesOriginal Reference(s)
HEXA IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Gm2-gangliosidosis, late onsetPMID:10852376 PMID:1483696 PMID:15714079 PMID:17576681 PMID:18490185 PMID:19815695 PMID:20363167 PMID:21228398 PMID:2145759 PMID:22006919 PMID:2278539 PMID:22975760 PMID:2522660 PMID:2522679 PMID:25741868 PMID:27033294 PMID:27682588 PMID:28492532 PMID:31076878 PMID:6236221 PMID:8328462 PMID:8343225 PMID:9536098
HEXA IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Gm2-gangliosidosis, late onsetPMID:14724290 PMID:25741868 PMID:28492532 PMID:31367523 PMID:8490625 PMID:9090523
HEXA IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Gm2-gangliosidosis, late onsetPMID:28492532 PMID:8757036
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