×
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
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
Biomarker
disease
HPO
×
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
×
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
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
CTD_human
×
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:
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:
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
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
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