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GENE - TERM ANNOTATION REPORT

RGD ID: 1593188
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Eng
Name: endoglin
Acc ID: DOID:9002350
Term: Hereditary Hemorrhagic Telangiectasia, Type 1
Definition: Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant vascular dysplasia leading to telangiectases and arteriovenous malformations of skin, mucosa, and viscera. Epistaxis and gastrointestinal bleeding are frequent complications of mucosal involvement. Visceral involvement includes that of the lung, liver, and brain. The most frequent form of hereditary hemorrhagic telangiectasia maps to the long arm of chromosome 9. Hereditary hemorrhagic telangiectasia type 1 (HHT1) is caused by heterozygous mutation in the gene encoding endoglin (ENG) on chromosome 9q34. (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)
Eng ISOENG (Homo sapiens)11041166RGD  
Eng ISOENG (Homo sapiens)7240710OMIM  
Eng ISOENG (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: ENG-related condition | ClinVar Annotator: match by term: Haemorrhagic telangiectasia 1 | ClinVar Annotator: match by term: Telangiectasia, hereditary hemorrhagic, type 1PMID:10545596 PMID:10625079 PMID:10702408 PMID:10749981 PMID:10982033 PMID:11343967 PMID:11440987 PMID:11793473 PMID:12673790 PMID:12786761 PMID:12920067 PMID:14526373 PMID:14684682 PMID:15024723 PMID:15266205 PMID:15375013 PMID:15517393 PMID:15521985 PMID:15712270 PMID:15712271 PMID:15849752 PMID:15879500 PMID:15880681 PMID:15907823 PMID:15993872 PMID:16164574 PMID:16199547 PMID:16287957 PMID:16429404 PMID:16470589 PMID:16470787 PMID:16525724 PMID:16542389 PMID:16690726 PMID:16705692 PMID:16752392 PMID:16754821 PMID:17384219 PMID:17525106 PMID:17576681 PMID:17719943 PMID:17786384 PMID:18495117 PMID:18498373 PMID:18607909 PMID:18673552 PMID:19270816 PMID:19299629 PMID:19508727 PMID:19767588 PMID:20412114 PMID:20414677 PMID:20656886 PMID:20719417 PMID:20813596 PMID:20824275 PMID:21158752 PMID:21415079 PMID:21967607 PMID:22022569 PMID:22192717 PMID:22347366 PMID:22385575 PMID:22656258 PMID:22991266 PMID:23298310 PMID:23300529 PMID:23399955 PMID:23535011 PMID:23710379 PMID:23722869 PMID:23801935 PMID:23805858 PMID:24001356 PMID:24033266 PMID:24055113 PMID:24196379 PMID:24267784 PMID:24603890 PMID:24921008 PMID:25080347 PMID:25312062 PMID:25326635 PMID:25637381 PMID:25674101 PMID:25741868 PMID:25741905 PMID:25970827 PMID:2601709 PMID:26167679 PMID:26811476 PMID:27146957 PMID:27884767 PMID:28231770 PMID:28492532 PMID:28564608 PMID:28655553 PMID:28989145 PMID:29171923 PMID:29398197 PMID:29483005 PMID:29650961 PMID:29743074 PMID:30029678 PMID:30073140 PMID:30251589 PMID:30374176 PMID:30665703 PMID:30701124 PMID:31019283 PMID:31400083 PMID:31455059 PMID:31630786 PMID:31727138 PMID:32300199 PMID:32303606 PMID:32503579 PMID:32514857 PMID:32573726 PMID:32581362 PMID:32933640 PMID:33919892 PMID:34008892 PMID:34377910 PMID:34872578 PMID:34900561 PMID:35628811 PMID:7894484 PMID:8162075 PMID:9245986 PMID:9366572 PMID:9536098 PMID:9554745
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