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GENE - TERM ANNOTATION REPORT

RGD ID: 2375
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Col2a1
Name: collagen type II alpha 1 chain
Acc ID: DOID:0080056
Term: achondrogenesis type II
Definition: An achondrogenesis that has_material_basis_in mutations in the COL2A1 gene which results_in underdeveloped lungs, hydrops fetalis, a prominent forehead and abnormal ossification of the located_in vertebral column or located_in pelvis. (DO)
Definition Source(s): http://en.wikipedia.org/wiki/Achondrogenesis_type_2 "DO" "DO", http://ghr.nlm.nih.gov/condition/achondrogenesis "DO" "DO", http://www.healthline.com/galecontent/achondrogenesis "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)
Col2a1 ISOCOL2A1 (Homo sapiens)7240710OMIM  
Col2a1 ISOCOL2A1 (Homo sapiens)11554173CTDCTD Direct Evidence: marker/mechanismPMID:7741714
Col2a1 ISOCOL2A1 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Achondrogenesis type II | ClinVar Annotator: match by term: Chondrogenesis imperfectaPMID:10612821 PMID:10797431 PMID:10982970 PMID:11007540 PMID:12429249 PMID:12544472 PMID:12939326 PMID:15054848 PMID:15895462 PMID:16199547 PMID:16752401 PMID:16755660 PMID:17078022 PMID:17347327 PMID:17576681 PMID:17726487 PMID:17994563 PMID:18272325 PMID:18276201 PMID:18553548 PMID:19344236 PMID:19764028 PMID:20179744 PMID:20301479 PMID:20513134 PMID:21472893 PMID:21924244 PMID:22496037 PMID:22522174 PMID:23592912 PMID:24736929 PMID:25504618 PMID:25592122 PMID:25604898 PMID:25735649 PMID:25741868 PMID:25741869 PMID:26037341 PMID:26377240 PMID:26443184 PMID:26467025 PMID:26626311 PMID:26747767 PMID:27234559 PMID:27390512 PMID:28492532 PMID:28559085 PMID:28738883 PMID:29453956 PMID:29620724 PMID:30138938 PMID:30181686 PMID:30792901 PMID:31755234 PMID:32071555 PMID:32756486 PMID:33249554 PMID:34394176 PMID:34529350 PMID:34573377 PMID:7695699 PMID:7752132 PMID:7757081 PMID:7829510 PMID:7977371 PMID:8218237 PMID:8244341 PMID:8325895 PMID:8702139 PMID:8893763 PMID:9016532 PMID:9101290 PMID:9536098
Col2a1 ISSCol2a1 (Mus musculus)13592920MouseDOOMIM:200610 
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