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GENE - TERM ANNOTATION REPORT

RGD ID: 11943659
Species: Pan paniscus
RGD Object: Gene
Symbol: SMARCAL1
Name: SNF2 related chromatin remodeling annealing helicase 1
Acc ID: DOID:9007661
Term: Dwarfism
Definition: A genetic or pathological condition that is characterized by short stature and undersize. Abnormal skeletal growth usually results in an adult who is significantly below the average height.
Definition Source(s): MESH:D004392
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)
SMARCAL1 ISOSMARCAL1 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Short staturePMID:11799392 PMID:15880370 PMID:16840568 PMID:17089404 PMID:18805831 PMID:19127206 PMID:20301550 PMID:21914180 PMID:22998683 PMID:24589093 PMID:25741868 PMID:26499378 PMID:28492532 PMID:28796785 PMID:29127259
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