Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

GENE - TERM ANNOTATION REPORT

RGD ID: 10669
Species: Mus musculus
RGD Object: Gene
Symbol: Gnas
Name: GNAS (guanine nucleotide binding protein, alpha stimulating) 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.
QualifierEvidenceWithReferenceSourceNotesOriginal Reference(s)
 IEA 13592920MouseDOOMIM:603233 , OMIM:612462

 
 ISORGD:7369168554872ClinVarClinVar Annotator: match by term: Pseudohypoparathyroidism

 
 ISORGD:7369168554872ClinVarClinVar Annotator: match by term: Pseudohypoparathyroidism

PMID:10487696
 ISORGD:7369168554872ClinVarClinVar Annotator: match by term: Pseudohypoparathyroidism

PMID:11073544, PMID:17962410
 ISORGD:7369168554872ClinVarClinVar Annotator: match by term: Pseudohypoparathyroidism

PMID:11092390, PMID:21525160, PMID:23533243, PMID:24088041, PMID:26633545
 ISORGD:7369168554872ClinVarClinVar Annotator: match by term: Pseudohypoparathyroidism

PMID:11095461
 ISORGD:7369168554872ClinVarClinVar Annotator: match by term: Pseudohypoparathyroidism

PMID:11450852, PMID:8702665, PMID:9159128
 ISORGD:7369168554872ClinVarClinVar Annotator: match by term: Pseudohypoparathyroidism

PMID:11600516, PMID:25741868
 ISORGD:7369168554872ClinVarClinVar Annotator: match by term: Pseudohypoparathyroidism

PMID:11784876, PMID:12024004, PMID:1505964, PMID:15711092, PMID:18553568, PMID:23796510, PMID:25219572, PMID:25741868, PMID:29072892, PMID:9876352
 ISORGD:7369168554872ClinVarClinVar Annotator: match by term: Pseudohypoparathyroidism

PMID:11784876, PMID:8557265
 ISORGD:7369168554872ClinVarClinVar Annotator: match by term: Pseudohypoparathyroidism

PMID:17164301, PMID:2109828, PMID:21713996
 ISORGD:7369168554872ClinVarClinVar Annotator: match by term: Pseudohypoparathyroidism

PMID:17299070
 ISORGD:7369168554872ClinVarClinVar Annotator: match by term: Pseudohypoparathyroidism

PMID:18553568, PMID:2122458
 ISORGD:7369168554872ClinVarClinVar Annotator: match by term: Pseudohypoparathyroidism

PMID:2109828, PMID:25741868
 ISORGD:7369168554872ClinVarClinVar Annotator: match by term: Pseudohypoparathyroidism

PMID:2122458, PMID:219790
 ISORGD:7369168554872ClinVarClinVar Annotator: match by term: Pseudohypoparathyroidism

PMID:21488135
 ISORGD:7369168554872ClinVarClinVar Annotator: match by term: Pseudohypoparathyroidism

PMID:25326637
 ISORGD:7369168554872ClinVarClinVar Annotator: match by term: Pseudohypoparathyroidism

PMID:25741868
 ISORGD:7369168554872ClinVarClinVar Annotator: match by term: Pseudohypoparathyroidism

PMID:25802881, PMID:29072892
 ISORGD:7369168554872ClinVarClinVar Annotator: match by term: Pseudohypoparathyroidism

PMID:9328353
 ISORGD:7369168554872ClinVarClinVar Annotator: match by term: Pseudohypoparathyroidism

PMID:9506752
 ISORGD:73691611554173CTDCTD Direct Evidence: marker/mechanism

PMID:9506752, PMID:17299070, PMID:21823526
 ISORGD:73691611568042RGDDNA:deletions:exon

 
 ISORGD:73691611568047RGD  
 ISORGD:73691611568048RGD  
Go Back to source page   Continue to Ontology report

NHLBI Logo

RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.