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GENE - TERM ANNOTATION REPORT

RGD ID: 9014683
Species: Chinchilla lanigera
RGD Object: Gene
Symbol: Pik3r1
Name: phosphoinositide-3-kinase regulatory subunit 1
Acc ID: DOID:0111454
Term: SHORT syndrome
Definition: A syndrome of multiple anomalies whose name stands for short stature, hyperextensibility of joints, ocular depression, Rieger anomaly and teething delay which, along with mild intrauterine growth restriction, partial lipodystrophy, delayed bone age, hernias and progeroid appearance, that has_material_basis_in heterozygous mutation in the PIK3R1 gene on chromosome 5q13. (DO)
Definition Source(s): https://ghr.nlm.nih.gov/condition/short-stature-hyperextensibility-hernia-ocular-depression-rieger-anomaly-and-teething-delay "DO" "DO", https://www.ncbi.nlm.nih.gov/pubmed/23810382 "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)
Pik3r1 ISOPIK3R1 (Homo sapiens)7240710OMIM  
Pik3r1 ISOPIK3R1 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: SHORT syndromePMID:10768093 PMID:11135494 PMID:12514365 PMID:16199547 PMID:17576681 PMID:18384141 PMID:18414213 PMID:22351933 PMID:23810378 PMID:23810379 PMID:23810382 PMID:23980586 PMID:24033266 PMID:24088041 PMID:24459181 PMID:24728327 PMID:24886349 PMID:25133428 PMID:25157968 PMID:25326637 PMID:25488983 PMID:25741868 PMID:25939554 PMID:26497935 PMID:26529633 PMID:26633545 PMID:26974159 PMID:269880 PMID:27076228 PMID:27116393 PMID:27221134 PMID:27693481 PMID:27766312 PMID:28104464 PMID:28143957 PMID:28302518 PMID:28492532 PMID:28632845 PMID:29051493 PMID:29178053 PMID:29636477 PMID:29740032 PMID:32499645 PMID:34008892 PMID:34307262 PMID:34922003 PMID:6407320 PMID:7705412 PMID:8574420 PMID:9536098
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