RGS7, regulator of G protein signaling 7, 6000

N. diseases: 28; N. variants: 25
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0038454
Disease: Cerebrovascular accident
Cerebrovascular accident 		0.310 Biomarker group CTD_human Multiancestry genome-wide association study of 520,000 subjects identifies 32 loci associated with stroke and stroke subtypes. 29531354 2018
CUI: C0038454
Disease: Cerebrovascular accident
Cerebrovascular accident 		0.310 GeneticVariation group BEFREE When the MAF between control and stroke groups was compared, only two intronic polymorphisms (1 SNP and 1 indel) in RGS7 (rs127445 36) and ANKS1B (rs398098426) genes, respectively, show statistically significant differences, which persisted after individual genotyping of the variants and adjustment for potential confounding factors. 27533483 2017
CUI: C0751956
Disease: Acute Cerebrovascular Accidents
Acute Cerebrovascular Accidents 		0.300 Biomarker disease CTD_human Multiancestry genome-wide association study of 520,000 subjects identifies 32 loci associated with stroke and stroke subtypes. 29531354 2018
CUI: C0020796
Disease: Profound Mental Retardation
Profound Mental Retardation 		0.300 Biomarker disease CTD_human Deep sequencing reveals 50 novel genes for recessive cognitive disorders. 21937992 2011
CUI: C0025363
Disease: Mental Retardation, Psychosocial
Mental Retardation, Psychosocial 		0.300 Biomarker phenotype CTD_human Deep sequencing reveals 50 novel genes for recessive cognitive disorders. 21937992 2011
CUI: C0917816
Disease: Mental deficiency
Mental deficiency 		0.300 Biomarker disease CTD_human Deep sequencing reveals 50 novel genes for recessive cognitive disorders. 21937992 2011
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.300 Biomarker group CTD_human Deep sequencing reveals 50 novel genes for recessive cognitive disorders. 21937992 2011
CUI: C1261502
Disease: Finding of Mean Corpuscular Hemoglobin
Finding of Mean Corpuscular Hemoglobin 		0.100 GeneticVariation phenotype GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
CUI: C1531624
Disease: Cardioembolic stroke
Cardioembolic stroke 		0.100 GeneticVariation disease GWASCAT Multiancestry genome-wide association study of 520,000 subjects identifies 32 loci associated with stroke and stroke subtypes. 29531354 2018
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		0.100 GeneticVariation disease GWASCAT Genome-wide haplotype association study identify the FGFR2 gene as a risk gene for acute myeloid leukemia. 27903959 2017
CUI: C0428883
Disease: Diastolic blood pressure
Diastolic blood pressure 		0.100 GeneticVariation phenotype GWASCAT EPHA6 rs4857055 C > T polymorphism associates with hypertension through triglyceride and LDL particle size in the Korean population. 29208002 2017
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		0.100 GeneticVariation disease GWASCAT Meta-analysis of genome-wide association studies in African Americans provides insights into the genetic architecture of type 2 diabetes. 25102180 2014
CUI: C0022336
Disease: Creutzfeldt-Jakob disease
Creutzfeldt-Jakob disease 		0.100 GeneticVariation disease GWASDB Genome-wide study links MTMR7 gene to variant Creutzfeldt-Jakob risk. 22137330 2012
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion 		0.020 Biomarker phenotype BEFREE Author Correction: RGS7 is recurrently mutated in melanoma and promotes migration and invasion of human cancer cells. 30850615 2019
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.020 GeneticVariation group BEFREE By mutating position 56 in the R44C mutant from valine to cysteine, thereby enabling the formation of a disulfide bridge between the two mutated positions, we slightly increased the catalytic activity and reinstated protein stability, leading to the rescue of RGS7's function as a tumor suppressor. 29330521 2018
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion 		0.020 Biomarker phenotype BEFREE Both of these effects are expected to contribute to loss of function of RGS7 resulting in increased anchorage-independent growth, migration and invasion of melanoma cells. 29330521 2018
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.020 Biomarker group BEFREE In particular, genes encoding factors suspected (cytosolic FH) or known (EXO1 - exonuclease 1) to be involved in DNA mismatch repair emerged as candidate susceptibility genes whereas those acting in the autophagy/apoptosis (MAP1LC3C - microtubule-associated protein) or signal transduction (RGS7 - Regulator of G-protein and PLD5- Phospoholipase D) appeared to affect tumor growth. 23555580 2013
CUI: C0011570
Disease: Mental Depression
Mental Depression 		0.010 Biomarker disease BEFREE Here we reveal a non-canonical mechanism by which GPR158 exerts its effects on stress-induced depression by the complex formation with Regulator of G protein Signaling 7 (RGS7). 30546127 2019
CUI: C0011581
Disease: Depressive disorder
Depressive disorder 		0.010 Biomarker disease BEFREE Here we reveal a non-canonical mechanism by which GPR158 exerts its effects on stress-induced depression by the complex formation with Regulator of G protein Signaling 7 (RGS7). 30546127 2019
CUI: C0344315
Disease: Depressed mood
Depressed mood 		0.010 Biomarker phenotype BEFREE Here we reveal a non-canonical mechanism by which GPR158 exerts its effects on stress-induced depression by the complex formation with Regulator of G protein Signaling 7 (RGS7). 30546127 2019
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.010 Biomarker group BEFREE Here, we report a crystal structure and dynamics analyses of the multisubunit complex of RGS7, a major regulator of neuronal signaling with key roles in controlling a number of drug target GPCRs and links to neuropsychiatric disease, metabolism, and cancer. 30540250 2018
CUI: C0025202
Disease: melanoma
melanoma 		0.010 Biomarker disease BEFREE Our findings identify RGS7 as a novel melanoma driver and point to the clinical relevance of using strategies to stabilize the protein and, thereby, restore its function. 29330521 2018
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.010 Biomarker group BEFREE Here, we report a crystal structure and dynamics analyses of the multisubunit complex of RGS7, a major regulator of neuronal signaling with key roles in controlling a number of drug target GPCRs and links to neuropsychiatric disease, metabolism, and cancer. 30540250 2018
CUI: C0003850
Disease: Arteriosclerosis
Arteriosclerosis 		0.010 GeneticVariation disease BEFREE In conclusion, the results of the study demonstrate statistically significant differences in two frequent intronic genetic variants (in RGS7 and ANKS1B) that could be associated with the platelet function between ischemic stroke patients with coexisting large-vessel atherosclerosis and control patients having high vascular risk. 27533483 2017
CUI: C0004153
Disease: Atherosclerosis
Atherosclerosis 		0.010 GeneticVariation disease BEFREE In conclusion, the results of the study demonstrate statistically significant differences in two frequent intronic genetic variants (in RGS7 and ANKS1B) that could be associated with the platelet function between ischemic stroke patients with coexisting large-vessel atherosclerosis and control patients having high vascular risk. 27533483 2017