GNAI3, G protein subunit alpha i3, 2773

N. diseases: 75; N. variants: 4
Disease: Auriculo-condylar syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
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 Novel variants in GNAI3 associated with auriculocondylar syndrome strengthen a common dominant negative effect. 25026904 2015
CUI: C1865295
Disease: Auriculo-condylar syndrome
Auriculo-condylar syndrome 		0.630 GermlineCausalMutation disease ORPHANET Additionally, protein-structure modeling demonstrated that all ACS substitutions disrupt the catalytic sites of PLCB4 and GNAI3. 22560091 2012
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 Biomarker disease CTD_human
CUI: C1865295
Disease: Auriculo-condylar syndrome
Auriculo-condylar syndrome 		0.630 Biomarker disease GENOMICS_ENGLAND