GNAI3, G protein subunit alpha i3, 2773

N. diseases: 75; N. variants: 4
Disease: Auriculocondylar syndrome 1 ×
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 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 GeneticVariation disease UNIPROT A human homeotic transformation resulting from mutations in PLCB4 and GNAI3 causes auriculocondylar syndrome. 22560091 2012
CUI: C4551996
Disease: Auriculocondylar syndrome 1
Auriculocondylar syndrome 1 		0.700 CausalMutation disease CLINVAR A human homeotic transformation resulting from mutations in PLCB4 and GNAI3 causes auriculocondylar syndrome. 22560091 2012
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 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 CTD_human