Auriculocondylar syndrome 1
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
GNAI3: Another Candidate Gene to Screen in Persons with Ocular Albinism.
|
27607449 |
2016 |
Auriculocondylar syndrome 1
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
GNAI3: Another Candidate Gene to Screen in Persons with Ocular Albinism.
|
27607449 |
2016 |
Auriculocondylar syndrome 1
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
A human homeotic transformation resulting from mutations in PLCB4 and GNAI3 causes auriculocondylar syndrome.
|
22560091 |
2012 |
Auriculocondylar syndrome 1
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
A human homeotic transformation resulting from mutations in PLCB4 and GNAI3 causes auriculocondylar syndrome.
|
22560091 |
2012 |
Auriculocondylar syndrome 1
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Transmission of the dysgnathia complex from mother to daughter.
|
11102934 |
2000 |
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 |
Auriculocondylar syndrome 1
|
0.700 |
Biomarker
|
disease |
HPO |
|
|
|
Auriculocondylar syndrome 1
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
Auriculocondylar syndrome 1
|
0.700 |
Biomarker
|
disease |
CTD_human |
|
|
|
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 |
Auriculo-condylar syndrome
|
0.630 |
GeneticVariation
|
disease |
BEFREE |
Novel variants in GNAI3 associated with auriculocondylar syndrome strengthen a common dominant negative effect.
|
25026904 |
2015 |
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 |
Auriculo-condylar syndrome
|
0.630 |
GeneticVariation
|
disease |
BEFREE |
A human homeotic transformation resulting from mutations in PLCB4 and GNAI3 causes auriculocondylar syndrome.
|
22560091 |
2012 |
Auriculo-condylar syndrome
|
0.630 |
Biomarker
|
disease |
CTD_human |
|
|
|
Auriculo-condylar syndrome
|
0.630 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
Cleft Palate
|
0.400 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
Cleft Palate
|
0.400 |
Biomarker
|
disease |
HPO |
|
|
|
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 |
Albinism, Ocular
|
0.310 |
Biomarker
|
disease |
BEFREE |
GNAI3: Another Candidate Gene to Screen in Persons with Ocular Albinism.
|
27607449 |
2016 |
Amnesia
|
0.300 |
Biomarker
|
disease |
CTD_human |
Differential prevention of morphine amnesia by antisense oligodeoxynucleotides directed against various Gi-protein alpha subunits.
|
11350863 |
2001 |
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 |
Temporary Amnesia
|
0.300 |
Biomarker
|
phenotype |
CTD_human |
Differential prevention of morphine amnesia by antisense oligodeoxynucleotides directed against various Gi-protein alpha subunits.
|
11350863 |
2001 |
Dissociative Amnesia
|
0.300 |
Biomarker
|
phenotype |
CTD_human |
Differential prevention of morphine amnesia by antisense oligodeoxynucleotides directed against various Gi-protein alpha subunits.
|
11350863 |
2001 |
Global Amnesia
|
0.300 |
Biomarker
|
phenotype |
CTD_human |
Differential prevention of morphine amnesia by antisense oligodeoxynucleotides directed against various Gi-protein alpha subunits.
|
11350863 |
2001 |
Tactile Amnesia
|
0.300 |
Biomarker
|
phenotype |
CTD_human |
Differential prevention of morphine amnesia by antisense oligodeoxynucleotides directed against various Gi-protein alpha subunits.
|
11350863 |
2001 |