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GENE - TERM ANNOTATION REPORT

RGD ID: 734037
Species: Homo sapiens
RGD Object: Gene
Symbol: COL2A1
Name: collagen type II alpha 1 chain
Acc ID: DOID:14789
Term: spondyloepiphyseal dysplasia congenita
Definition: A spondyloepiphyseal dysplasia characterized by disproportionate short stature (short trunk), abnormal epiphyses, and flattened vertebral bodies that has_material_basis_in heterozygous mutation in the COL2A1 gene on chromosome 12q13.11. (DO)
Definition Source(s): https://pubmed.ncbi.nlm.nih.gov/1971141/ "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 IAGP 8657353RGDDNA:missense mutation:cds:p.P986L (human) 
COL2A1 IAGP 11667105RGDDNA:missense mutations:cds:p.G504S, p.G801S, p.G1176V (human) 
COL2A1 ISOCol2a1 (Mus musculus)729929RGDDNA:missense mutation:cds:p.R1417C (mouse) 
COL2A1 IAGP 7240710OMIM  
COL2A1 EXP 11554173CTDCTD Direct Evidence: marker/mechanism 
COL2A1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Spondyloepiphyseal dysplasia congenitaPMID:26380986
COL2A1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Spondyloepiphyseal dysplasia, congenital typePMID:25504618 PMID:25741868 PMID:26467025 PMID:28492532
COL2A1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Spondyloepiphyseal dysplasia, congenital typePMID:25741868 PMID:26467025 PMID:28492532
COL2A1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Spondyloepiphyseal dysplasia, congenital typePMID:18272325 PMID:25741868 PMID:28492532
COL2A1 IAGP (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Spondyloepiphyseal dysplasia congenita | ClinVar Annotator: match by term: Spondyloepiphyseal dysplasia, congenital typePMID:25741868 PMID:28492532
COL2A1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Spondyloepiphyseal dysplasia congenitaPMID:18276201 PMID:20179744 PMID:25741868 PMID:26626311 PMID:28492532
COL2A1 IAGP (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Spondyloepiphyseal dysplasia congenitaPMID:25741868
COL2A1 IAGP (Homo sapiens) or (Homo sapiens) or (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Spondyloepiphyseal dysplasia congenita 
COL2A1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Spondyloepiphyseal dysplasia congenitaPMID:15895462 PMID:25604898 PMID:25741868 PMID:35052477
COL2A1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Spondyloepiphyseal dysplasia, congenital typePMID:17078022 PMID:17347327 PMID:19344236 PMID:25592122 PMID:25604898 PMID:25741868 PMID:25741869 PMID:26037341 PMID:28492532 PMID:7695699 PMID:7977371 PMID:8218237 PMID:8702139 PMID:8893763 PMID:9016532
COL2A1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Spondyloepiphyseal dysplasia congenitaPMID:15643621 PMID:25741868 PMID:28492532 PMID:31019026
COL2A1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Spondyloepiphyseal dysplasia congenitaPMID:10612821 PMID:19344236 PMID:25741868 PMID:26443184 PMID:26985960 PMID:28492532 PMID:7695699 PMID:8218237
COL2A1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Spondyloepiphyseal dysplasia congenitaPMID:17078022 PMID:19344236 PMID:25741868 PMID:28492532 PMID:7695699 PMID:8218237 PMID:9016532
COL2A1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Spondyloepiphyseal dysplasia congenitaPMID:17078022 PMID:1905723 PMID:19344236 PMID:25604898 PMID:25741868 PMID:26626311 PMID:28492532 PMID:7695699 PMID:8218237 PMID:9016532
COL2A1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Spondyloepiphyseal dysplasia congenitaPMID:17078022 PMID:19344236 PMID:25741868 PMID:28492532 PMID:35052477 PMID:7695699 PMID:8218237 PMID:9016532
COL2A1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Spondyloepiphyseal dysplasia congenitaPMID:25741868 PMID:28492532 PMID:31755234
COL2A1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Spondyloepiphyseal dysplasia congenitaPMID:20513134 PMID:25741868
COL2A1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Spondyloepiphyseal dysplasia congenitaPMID:17078022 PMID:19344236 PMID:25741868 PMID:26626311 PMID:27234559 PMID:28492532 PMID:35052477 PMID:7695699 PMID:8218237 PMID:9016532
COL2A1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Spondyloepiphyseal dysplasia congenitaPMID:17078022 PMID:19344236 PMID:25741868 PMID:28492532 PMID:32860008 PMID:7695699 PMID:8218237 PMID:9016532
COL2A1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Spondyloepiphyseal dysplasia congenitaPMID:17078022 PMID:19344236 PMID:25604898 PMID:25741868 PMID:28492532 PMID:7695699 PMID:8218237 PMID:9016532
COL2A1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Spondyloepiphyseal dysplasia congenitaPMID:2543071
COL2A1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Spondyloepiphyseal dysplasia congenitaPMID:2339128
COL2A1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Spondyloepiphyseal dysplasia, congenital typePMID:15895462 PMID:17078022 PMID:1905723 PMID:19344236 PMID:25604898 PMID:25741868 PMID:26626311 PMID:28492532 PMID:34008892 PMID:7695699 PMID:8218237 PMID:8423604 PMID:9016532
COL2A1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Spondyloepiphyseal dysplasia congenitaPMID:21472893 PMID:21924244 PMID:25735649 PMID:25741868 PMID:28492532 PMID:7752132 PMID:8325895 PMID:9101290
COL2A1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Spondyloepiphyseal dysplasia congenitaPMID:10678662
COL2A1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Spondyloepiphyseal dysplasia congenitaPMID:11746045 PMID:24033266 PMID:25741868 PMID:28492532 PMID:32381255
COL2A1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Spondyloepiphyseal dysplasia, congenital typePMID:18276201 PMID:25741868 PMID:26467025 PMID:28492532
COL2A1 ISSCol2a1 (Mus musculus)13592920MouseDOOMIM:183900 
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