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GENE - TERM ANNOTATION REPORT

RGD ID: 18933796
Species: Heterocephalus glaber
RGD Object: Gene
Symbol: Med12
Name: mediator complex subunit 12
Acc ID: DOID:10488
Term: imperforate anus
Definition: A congenital abnormality characterized by the persistence of the anal membrane, resulting in a thin membrane covering the normal ANAL CANAL. Imperforation is not always complete and is treated by surgery in infancy. This defect is often associated with NEURAL TUBE DEFECTS; MENTAL RETARDATION; and DOWN SYNDROME.
Definition Source(s): MESH:D001006
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)
Med12 ISOMED12 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Anal atresiaPMID:10405444 PMID:17334363 PMID:18691967 PMID:18805826 PMID:18973276 PMID:19938245 PMID:20301719 PMID:20981778 PMID:23091001 PMID:25326635 PMID:25741868 PMID:26350204 PMID:28369444 PMID:28492532
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