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GENE - TERM ANNOTATION REPORT

RGD ID: 69337
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Trpv4
Name: transient receptor potential cation channel, subfamily V, member 4
Acc ID: DOID:0111553
Term: spondyloepiphyseal dysplasia Maroteaux type
Definition: An osteochondrodysplasia characterized by dysplastic epiphyses, short stature appearing in infancy, short neck, short and stubby hands and feet, platyspondyly, severe brachydactyly, and pelvic abnormalities that has_material_basis_in heterozygous mutation in the TRPV4 gene on chromosome 12q24.11. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/20503319 "DO" "DO", https://www.ncbi.nlm.nih.gov/pubmed/2229114 "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)
Trpv4 ISOTRPV4 (Homo sapiens)7240710OMIM  
Trpv4 ISOTRPV4 (Homo sapiens)11554173CTDCTD Direct Evidence: marker/mechanism 
Trpv4 ISOTRPV4 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: PSEUDO-MORQUIO SYNDROME, TYPE 2 | ClinVar Annotator: match by term: SED, Maroteaux type | ClinVar Annotator: match by term: Spondyloepiphyseal dysplasia Maroteaux typePMID:12884428 PMID:14755468 PMID:17879966 PMID:19232556 PMID:20037586 PMID:20037587 PMID:20037588 PMID:20104247 PMID:20425821 PMID:20460441 PMID:20503319 PMID:20577006 PMID:21288981 PMID:21336783 PMID:21454511 PMID:21573172 PMID:21658220 PMID:22702953 PMID:24575025 PMID:24789864 PMID:24963089 PMID:25256292 PMID:25741868 PMID:25802885 PMID:25900305 PMID:26110311 PMID:26170305 PMID:26249260 PMID:26392352 PMID:26467025 PMID:26948711 PMID:27751652 PMID:28251916 PMID:28492532 PMID:29858556 PMID:30230566 PMID:30373780 PMID:34529350 PMID:4056805 PMID:6628444 PMID:8179305
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