Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2773
Gene Symbol: GNAI3
GNAI3 		0.700 Biomarker disease GENOMICS_ENGLAND GNAI3: Another Candidate Gene to Screen in Persons with Ocular Albinism. 27607449 2016
Entrez Id: 2773
Gene Symbol: GNAI3
GNAI3 		0.700 GeneticVariation disease UNIPROT A human homeotic transformation resulting from mutations in PLCB4 and GNAI3 causes auriculocondylar syndrome. 22560091 2012
Entrez Id: 2773
Gene Symbol: GNAI3
GNAI3 		0.700 CausalMutation disease CLINVAR A human homeotic transformation resulting from mutations in PLCB4 and GNAI3 causes auriculocondylar syndrome. 22560091 2012
Entrez Id: 2773
Gene Symbol: GNAI3
GNAI3 		0.700 Biomarker disease GENOMICS_ENGLAND Transmission of the dysgnathia complex from mother to daughter. 11102934 2000
Entrez Id: 2773
Gene Symbol: GNAI3
GNAI3 		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
Entrez Id: 2773
Gene Symbol: GNAI3
GNAI3 		0.700 Biomarker disease HPO
Entrez Id: 2773
Gene Symbol: GNAI3
GNAI3 		0.700 Biomarker disease GENOMICS_ENGLAND
Entrez Id: 2773
Gene Symbol: GNAI3
GNAI3 		0.700 Biomarker disease CTD_human
Entrez Id: 1906
Gene Symbol: EDN1
EDN1 		0.610 GeneticVariation disease BEFREE Auriculocondylar syndrome and isolated question mark ear result from dysregulation of the endothelin 1-endothelin receptor type A signaling pathway. 28456137 2018
Entrez Id: 1906
Gene Symbol: EDN1
EDN1 		0.610 Biomarker disease GENOMICS_ENGLAND Mutations in endothelin 1 cause recessive auriculocondylar syndrome and dominant isolated question-mark ears. 24268655 2013
Entrez Id: 1906
Gene Symbol: EDN1
EDN1 		0.610 Biomarker disease HPO
Entrez Id: 1906
Gene Symbol: EDN1
EDN1 		0.610 Biomarker disease CTD_human
Entrez Id: 5332
Gene Symbol: PLCB4
PLCB4 		0.600 CausalMutation disease CLINVAR A human homeotic transformation resulting from mutations in PLCB4 and GNAI3 causes auriculocondylar syndrome. 22560091 2012
Entrez Id: 5332
Gene Symbol: PLCB4
PLCB4 		0.600 Biomarker disease HPO
Entrez Id: 5332
Gene Symbol: PLCB4
PLCB4 		0.600 Biomarker disease CTD_human
Entrez Id: 5332
Gene Symbol: PLCB4
PLCB4 		0.600 Biomarker disease GENOMICS_ENGLAND
Entrez Id: 4208
Gene Symbol: MEF2C
MEF2C 		0.010 GeneticVariation disease BEFREE We report heterozygous MEF2C loss-of-function as a possible cause of question mark ear associated with intellectual deficiency. 28456137 2018