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GENE - TERM ANNOTATION REPORT

RGD ID: 11234
Species: Mus musculus
RGD Object: Gene
Symbol: Ret
Name: ret proto-oncogene
Acc ID: DOID:0060731
Term: congenital central hypoventilation syndrome
Definition: An autonomic nervous system disease characterized by reduced responsiveness of the respiratory center to carbon dioxide, diminished pupillary light responses, and other symptoms related to defects in the autonomic nervous system and that has_material_basis_in most commonly heterozygous mutation in the PHOX2B gene on chromosome 4p13 and less frequently mutations in the RET, GDNF, EDN3, BDNF, or ASCL1 genes. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/11840487 "DO" "DO", https://www.ncbi.nlm.nih.gov/pubmed/12640453 "DO" "DO", https://www.ncbi.nlm.nih.gov/pubmed/8135282 "DO" "DO", https://www.ncbi.nlm.nih.gov/pubmed/8696331 "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)
Ret ISORET (Homo sapiens)11554173CTDCTD Direct Evidence: marker/mechanismPMID:9497256 PMID:12086152
Ret ISORET (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Congenital Central Hypoventilation Syndrome | ClinVar Annotator: match by term: Congenital central hypoventilationPMID:10076558 PMID:10090908 PMID:10618407 PMID:10679286 PMID:10826520 PMID:10876191 PMID:11114642 PMID:11238493 PMID:11732489 PMID:11788682 PMID:12019403 PMID:12086152 PMID:12193298 PMID:12410354 PMID:14557476 PMID:14633923 PMID:15184865 PMID:15386323 PMID:15741265 PMID:15858153 PMID:16325365 PMID:16343097 PMID:16532227 PMID:16849421 PMID:16865647 PMID:16868135 PMID:17032739 PMID:17047083 PMID:17108762 PMID:17316110 PMID:17384210 PMID:17466010 PMID:17590169 PMID:17605401 PMID:17664273 PMID:17704047 PMID:17895320 PMID:18058472 PMID:18062802 PMID:18063059 PMID:18299477 PMID:19445625 PMID:19958926 PMID:20013610 PMID:20039896 PMID:20041006 PMID:20142552 PMID:20369307 PMID:20473317 PMID:20494215 PMID:20497437 PMID:20516206 PMID:20532249 PMID:20719260 PMID:20979234 PMID:21134561 PMID:21309721 PMID:21454698 PMID:21475823 PMID:21479187 PMID:21711375 PMID:21712996 PMID:21810974 PMID:22174939 PMID:22584709 PMID:22703879 PMID:22747440 PMID:22811860 PMID:23084198 PMID:23259706 PMID:23341727 PMID:23468374 PMID:23514012 PMID:24033266 PMID:24064755 PMID:24336963 PMID:24361808 PMID:24429398 PMID:24560924 PMID:24617864 PMID:24728327 PMID:24794695 PMID:25349307 PMID:25425582 PMID:25440022 PMID:25501606 PMID:25624014 PMID:25741868 PMID:25759805 PMID:25810047 PMID:25903693 PMID:26033033 PMID:26034076 PMID:26046350 PMID:26467025 PMID:26559152 PMID:26580448 PMID:26758973 PMID:26845104 PMID:27099842 PMID:27207748 PMID:28125075 PMID:28492532 PMID:28873162 PMID:28946813 PMID:29590403 PMID:29625052 PMID:29656518 PMID:29684080 PMID:3078962 PMID:31510104 PMID:32923848 PMID:33167350 PMID:33450337 PMID:33615670 PMID:33827484 PMID:34637071 PMID:35264596 PMID:36474027 PMID:7824936 PMID:7835899 PMID:7907913 PMID:7915165 PMID:8099202 PMID:8626834 PMID:8797874 PMID:8896569 PMID:9067749 PMID:9174404 PMID:9230192 PMID:9452077 PMID:9498388 PMID:9606292 PMID:9839497 PMID:9868860 PMID:9879991
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