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GENE - TERM ANNOTATION REPORT

RGD ID: 18904306
Species: Heterocephalus glaber
RGD Object: Gene
Symbol: Mei1
Name: meiotic double-stranded break formation protein 1
Acc ID: DOID:9005301
Term: Hydatidiform Mole, Recurrent, 3
Definition: Hydatidiform mole is a human pregnancy with abnormal or no embryonic development and excessive trophoblastic proliferation. Partial hydatidiform moles have a triploid dispermic genome, with 2 sets of paternal chromosomes and 1 set of maternal chromosomes; complete hydatidiform moles have a diploid androgenetic genome with all chromosomes originating from 1 (monospermic) or 2 (dispermic) sperms, and no maternal chromosomes. Recurrent hydatidiform mole-3 (HYDM3) is caused by homozygous or compound heterozygous mutation in the MEI1 gene on chromosome 22q13. (OMIM)
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)
Mei1 ISOMEI1 (Homo sapiens)7240710OMIM  
Mei1 ISOMEI1 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Hydatidiform mole, recurrent, 3 | ClinVar Annotator: match by term: MEI1-related conditionPMID:25741868 PMID:28492532 PMID:30388401
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