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GENE - TERM ANNOTATION REPORT

RGD ID: 18918593
Species: Heterocephalus glaber
RGD Object: Gene
Symbol: Mpl
Name: MPL proto-oncogene, thrombopoietin receptor
Acc ID: DOID:0090118
Term: congenital amegakaryocytic thrombocytopenia
Definition: A thrombocytopenia that is characterized by a severe reduction in megakaryocyte and platelet numbers, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the myeloproliferative leukemia virus oncogene (MPL) on chromosome 1p34. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/29191945 "DO" "DO", https://www.ncbi.nlm.nih.gov/pubmed/29384262 "DO" "DO", https://www.omim.org/entry/604498 "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)
Mpl ISOMPL (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Congenital amegakaryocytic thrombocytopeniaPMID:10077649 PMID:10971406 PMID:11071383 PMID:11133753 PMID:11392330 PMID:11972523 PMID:15269348 PMID:15531462 PMID:16199547 PMID:16219544 PMID:16470591 PMID:16834459 PMID:16868251 PMID:17034029 PMID:17054430 PMID:17576681 PMID:17666371 PMID:18090929 PMID:18240171 PMID:18422784 PMID:18451306 PMID:18769448 PMID:19036112 PMID:19302922 PMID:19388932 PMID:20113333 PMID:20188141 PMID:21162090 PMID:21225925 PMID:21228398 PMID:21326037 PMID:21489838 PMID:21659346 PMID:22180433 PMID:22389068 PMID:23103231 PMID:23625800 PMID:23908116 PMID:24033266 PMID:24119002 PMID:24438083 PMID:24728327 PMID:25023898 PMID:25538044 PMID:25741868 PMID:26316487 PMID:26423830 PMID:26854587 PMID:27069254 PMID:27100302 PMID:27418648 PMID:27449473 PMID:28104920 PMID:28492532 PMID:28697167 PMID:28823277 PMID:28859041 PMID:29384262 PMID:29625052 PMID:30840646 PMID:30886832 PMID:31064749 PMID:31249973 PMID:31294534 PMID:32165824 PMID:32581362 PMID:32581363 PMID:32703794 PMID:33718801 PMID:34573280 PMID:35314707 PMID:35477182 PMID:35776903 PMID:35861108 PMID:36451132 PMID:8073287 PMID:9536098 PMID:971406
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