GNAI3, G protein subunit alpha i3, 2773

N. diseases: 75; N. variants: 4
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4551996
Disease: Auriculocondylar syndrome 1
Auriculocondylar syndrome 1 		0.700 GeneticVariation disease UNIPROT A human homeotic transformation resulting from mutations in PLCB4 and GNAI3 causes auriculocondylar syndrome. 22560091 2012
CUI: C1865295
Disease: Auriculo-condylar syndrome
Auriculo-condylar syndrome 		0.630 GeneticVariation disease BEFREE In order to address these questions, we searched for alterations in PLCB4, GNAI3, and EDN1 in patients with typical Auriculocondylar syndrome (n = 3), Pierre Robin sequence-plus (n = 3), micrognathia with additional craniofacial malformations (n = 4), or non-specific auricular dysplasia (n = 1), which could represent subtypes of Auriculocondylar syndrome. 28328130 2017
CUI: C1865295
Disease: Auriculo-condylar syndrome
Auriculo-condylar syndrome 		0.630 GeneticVariation disease BEFREE A human homeotic transformation resulting from mutations in PLCB4 and GNAI3 causes auriculocondylar syndrome. 22560091 2012
CUI: C1865295
Disease: Auriculo-condylar syndrome
Auriculo-condylar syndrome 		0.630 GeneticVariation disease BEFREE Novel variants in GNAI3 associated with auriculocondylar syndrome strengthen a common dominant negative effect. 25026904 2015
CUI: C1269683
Disease: Major Depressive Disorder
Major Depressive Disorder 		0.100 GeneticVariation disease GWASCAT Genome-wide association study of recurrent early-onset major depressive disorder. 20125088 2011
CUI: C1269683
Disease: Major Depressive Disorder
Major Depressive Disorder 		0.100 GeneticVariation disease GWASDB Genome-wide association study of recurrent early-onset major depressive disorder. 20125088 2011
CUI: C0742343
Disease: Acute Chest Syndrome
Acute Chest Syndrome 		0.030 GeneticVariation disease BEFREE We found that ACS-associated mutations in GNAI3 produce dominant-negative Gα(i3) mutant proteins that couple to ET(A)R but cannot bind and hydrolyze guanosine triphosphate, resulting in the prevention of endothelin-mediated activation of Gα(q/11) and PLC. 27072656 2016
CUI: C0742343
Disease: Acute Chest Syndrome
Acute Chest Syndrome 		0.030 GeneticVariation disease BEFREE Missense heterozygous mutations in the phospholipase C, β 4 (PLCB4) and guanine nucleotide binding protein (G protein), α inhibiting activity polypeptide 3 (GNAI3) genes have recently been identified in ACS patients by exome sequencing. 23315542 2013
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality 		0.010 GeneticVariation group BEFREE In order to address these questions, we searched for alterations in PLCB4, GNAI3, and EDN1 in patients with typical Auriculocondylar syndrome (n = 3), Pierre Robin sequence-plus (n = 3), micrognathia with additional craniofacial malformations (n = 4), or non-specific auricular dysplasia (n = 1), which could represent subtypes of Auriculocondylar syndrome. 28328130 2017
CUI: C4551996
Disease: Auriculocondylar syndrome 1
Auriculocondylar syndrome 1 		0.700 Biomarker disease GENOMICS_ENGLAND The highly conserved Chinese hamster GNAI3 gene maps less than 60 kb from the AMPD2 gene and lacks the intronic U6 snRNA present in its human counterpart. 7698751 1994
CUI: C4551996
Disease: Auriculocondylar syndrome 1
Auriculocondylar syndrome 1 		0.700 Biomarker disease HPO
CUI: C4551996
Disease: Auriculocondylar syndrome 1
Auriculocondylar syndrome 1 		0.700 Biomarker disease GENOMICS_ENGLAND
CUI: C4551996
Disease: Auriculocondylar syndrome 1
Auriculocondylar syndrome 1 		0.700 Biomarker disease GENOMICS_ENGLAND GNAI3: Another Candidate Gene to Screen in Persons with Ocular Albinism. 27607449 2016
CUI: C4551996
Disease: Auriculocondylar syndrome 1
Auriculocondylar syndrome 1 		0.700 Biomarker disease GENOMICS_ENGLAND GNAI3: Another Candidate Gene to Screen in Persons with Ocular Albinism. 27607449 2016
CUI: C4551996
Disease: Auriculocondylar syndrome 1
Auriculocondylar syndrome 1 		0.700 Biomarker disease GENOMICS_ENGLAND Transmission of the dysgnathia complex from mother to daughter. 11102934 2000
CUI: C4551996
Disease: Auriculocondylar syndrome 1
Auriculocondylar syndrome 1 		0.700 Biomarker disease CTD_human
CUI: C1865295
Disease: Auriculo-condylar syndrome
Auriculo-condylar syndrome 		0.630 Biomarker disease CTD_human
CUI: C1865295
Disease: Auriculo-condylar syndrome
Auriculo-condylar syndrome 		0.630 Biomarker disease GENOMICS_ENGLAND
CUI: C0008925
Disease: Cleft Palate
Cleft Palate 		0.400 Biomarker disease GENOMICS_ENGLAND
CUI: C0008925
Disease: Cleft Palate
Cleft Palate 		0.400 Biomarker disease HPO
CUI: C0078917
Disease: Albinism, Ocular
Albinism, Ocular 		0.310 Biomarker disease GENOMICS_ENGLAND Thus, we have identified GNAI3 as a second gene possibly responsible for X-linked ocular albinism. 27607449 2016
CUI: C0078917
Disease: Albinism, Ocular
Albinism, Ocular 		0.310 Biomarker disease BEFREE GNAI3: Another Candidate Gene to Screen in Persons with Ocular Albinism. 27607449 2016
CUI: C0002622
Disease: Amnesia
Amnesia 		0.300 Biomarker disease CTD_human Differential prevention of morphine amnesia by antisense oligodeoxynucleotides directed against various Gi-protein alpha subunits. 11350863 2001
CUI: C0152423
Disease: Congenital small ears
Congenital small ears 		0.300 Biomarker disease GENOMICS_ENGLAND The highly conserved Chinese hamster GNAI3 gene maps less than 60 kb from the AMPD2 gene and lacks the intronic U6 snRNA present in its human counterpart. 7698751 1994
CUI: C0233750
Disease: Hysterical amnesia
Hysterical amnesia 		0.300 Biomarker phenotype CTD_human Differential prevention of morphine amnesia by antisense oligodeoxynucleotides directed against various Gi-protein alpha subunits. 11350863 2001