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GENE - TERM ANNOTATION REPORT

RGD ID: 2716
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Gnas
Name: GNAS complex locus
Acc ID: DOID:4184
Term: pseudohypoparathyroidism
Definition: A hereditary syndrome clinically similar to HYPOPARATHYROIDISM. It is characterized by HYPOCALCEMIA; HYPERPHOSPHATEMIA; and associated skeletal development impairment and caused by failure of response to PARATHYROID HORMONE rather than deficiencies. A severe form with resistance to multiple hormones is referred to as Type 1a and is associated with maternal mutant allele of the ALPHA CHAIN OF STIMULATORY G PROTEIN.
Definition Source(s): MESH:D011547
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)
Gnas ISOGNAS (Homo sapiens)11568042RGDDNA:deletions:exon 
Gnas ISOGNAS (Homo sapiens)11568047RGD  
Gnas ISOGNAS (Homo sapiens)11568048RGD  
Gnas ISOGNAS (Homo sapiens)11554173CTDCTD Direct Evidence: marker/mechanismPMID:2109828 PMID:2122458 PMID:9506752 PMID:17299070 PMID:21823526 PMID:21836370
Gnas ISOGNAS (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: PseudohypoparathyroidismPMID:10487696 PMID:11073544 PMID:11092390 PMID:11095461 PMID:11450852 PMID:11600516 PMID:11784876 PMID:12024004 PMID:12621129 PMID:12970262 PMID:1505964 PMID:15711092 PMID:17164301 PMID:17299070 PMID:17962410 PMID:18553568 PMID:18796523 PMID:20427508 PMID:2109828 PMID:2122458 PMID:21274345 PMID:21488135 PMID:21525160 PMID:21713996 PMID:21747923 PMID:219790 PMID:23281139 PMID:23533243 PMID:23796510 PMID:23884777 PMID:24088041 PMID:24481334 PMID:24626099 PMID:24651309 PMID:25044890 PMID:25219572 PMID:25326637 PMID:25741868 PMID:25802881 PMID:26633545 PMID:27703483 PMID:28296742 PMID:28492532 PMID:29059381 PMID:29072892 PMID:29193623 PMID:30349702 PMID:30674755 PMID:30729047 PMID:31793173 PMID:31886927 PMID:33144682 PMID:34008892 PMID:34254228 PMID:34418133 PMID:34614324 PMID:35296306 PMID:35357904 PMID:35497370 PMID:8388883 PMID:8557265 PMID:8702665 PMID:9159128 PMID:9328353 PMID:9506752 PMID:9876352
Gnas ISSGnas (Mus musculus)13592920MouseDOOMIM:612462 
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