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GENE - TERM ANNOTATION REPORT

RGD ID: 11887748
Species: Pan paniscus
RGD Object: Gene
Symbol: POMT1
Name: protein O-mannosyltransferase 1
Acc ID: DOID:9296
Term: cleft lip
Definition: An orofacial cleft that is characterized by a congenital defect in the upper lip where the maxillary prominence fails to merge with the merged medial nasal prominences. (DO)
Definition Source(s): https://en.wikipedia.org/wiki/Cleft_lip_and_cleft_palate "DO" "DO", https://www.cdc.gov/ncbddd/birthdefects/cleftlip.html "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)
POMT1 ISOPOMT1 (Homo sapiens)9068941RGDassociated with Walker-Warburg Syndrome;DNA:insertion, deletion:exonPMID:18640039 REF_RGD_ID:11532685
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