GPR101, G protein-coupled receptor 101, 83550

N. diseases: 85; N. variants: 4
Disease: Acromegaly ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs73637412
rs73637412
Entrez Id: 83550
Gene Symbol: GPR101
GPR101
CUI: C0001206
Disease:
Acromegaly 		0.050 GeneticVariation BEFREE GPR101 duplication has a causative role in XLAG, while GPR101 variants, especially c.924G>C (E308D), located at ICL3, are attributed to acromegaly. 30711029 2019
dbSNP: rs73637412
rs73637412
Entrez Id: 83550
Gene Symbol: GPR101
GPR101
CUI: C0001206
Disease:
Acromegaly 		0.050 GeneticVariation BEFREE Patients with sporadic of familial acromegaly did not have an increased prevalence of the c.924G > C (p.E308D) GPR101 variant compared to public databases.In conclusion, XLAG can result from germline or somatic duplication of GPR101. 27245663 2016
dbSNP: rs73637412
rs73637412
Entrez Id: 83550
Gene Symbol: GPR101
GPR101
CUI: C0001206
Disease:
Acromegaly 		0.050 GeneticVariation BEFREE This multicentric study aimed to investigate the prevalence of the G protein-coupled receptor 101 (GPR101) p.E308D variant and aryl hydrocarbon receptor interacting protein (AIP) gene mutations in a representative cohort of Italian patients with acromegaly. 26815903 2016
dbSNP: rs73637412
rs73637412
Entrez Id: 83550
Gene Symbol: GPR101
GPR101
CUI: C0001206
Disease:
Acromegaly 		0.050 GeneticVariation BEFREE Three of the six patients with the GPR101 p.(E308D) mutation had adult-onset acromegaly, two had adrenocorticotropin-secreting adenomas, and one had a nonfunctioning macroadenoma. 26792934 2016
dbSNP: rs73637412
rs73637412
Entrez Id: 83550
Gene Symbol: GPR101
GPR101
CUI: C0001206
Disease:
Acromegaly 		0.050 GeneticVariation BEFREE We identified a recurrent GPR101 mutation (p.E308D) in 11 of 248 patients with acromegaly, with the mutation found mostly in tumors. 25470569 2014