rs387907179
|
Entrez Id: |
5332 |
Gene Symbol: |
PLCB4 |
PLCB4
|
AURICULOCONDYLAR SYNDROME 2
|
|
0.800 |
GeneticVariation |
UNIPROT |
A human homeotic transformation resulting from mutations in PLCB4 and GNAI3 causes auriculocondylar syndrome.
|
22560091 |
2012 |
rs397514480
|
Entrez Id: |
5332 |
Gene Symbol: |
PLCB4 |
PLCB4
|
AURICULOCONDYLAR SYNDROME 2
|
|
0.800 |
GeneticVariation |
UNIPROT |
A human homeotic transformation resulting from mutations in PLCB4 and GNAI3 causes auriculocondylar syndrome.
|
22560091 |
2012 |
rs397514481
|
Entrez Id: |
5332 |
Gene Symbol: |
PLCB4 |
PLCB4
|
AURICULOCONDYLAR SYNDROME 2
|
|
0.800 |
GeneticVariation |
UNIPROT |
A human homeotic transformation resulting from mutations in PLCB4 and GNAI3 causes auriculocondylar syndrome.
|
22560091 |
2012 |
rs397514482
|
Entrez Id: |
5332 |
Gene Symbol: |
PLCB4 |
PLCB4
|
AURICULOCONDYLAR SYNDROME 2
|
|
0.800 |
GeneticVariation |
UNIPROT |
A human homeotic transformation resulting from mutations in PLCB4 and GNAI3 causes auriculocondylar syndrome.
|
22560091 |
2012 |
rs397514483
|
Entrez Id: |
5332 |
Gene Symbol: |
PLCB4 |
PLCB4
|
AURICULOCONDYLAR SYNDROME 2
|
|
0.800 |
GeneticVariation |
UNIPROT |
A human homeotic transformation resulting from mutations in PLCB4 and GNAI3 causes auriculocondylar syndrome.
|
22560091 |
2012 |
rs2299682
|
Entrez Id: |
5332 |
Gene Symbol: |
PLCB4 |
PLCB4
|
Bipolar Disorder
|
|
0.700 |
GeneticVariation |
GWASCAT |
Genome-wide association studies of smooth pursuit and antisaccade eye movements in psychotic disorders: findings from the B-SNIP study.
|
29064472 |
2017 |
rs2299682
|
Entrez Id: |
5332 |
Gene Symbol: |
PLCB4 |
PLCB4
|
Schizophrenia
|
|
0.700 |
GeneticVariation |
GWASCAT |
Genome-wide association studies of smooth pursuit and antisaccade eye movements in psychotic disorders: findings from the B-SNIP study.
|
29064472 |
2017 |
rs2299682
|
Entrez Id: |
5332 |
Gene Symbol: |
PLCB4 |
PLCB4
|
Schizoaffective Disorder
|
|
0.700 |
GeneticVariation |
GWASCAT |
Genome-wide association studies of smooth pursuit and antisaccade eye movements in psychotic disorders: findings from the B-SNIP study.
|
29064472 |
2017 |
rs2327129
|
Entrez Id: |
5332 |
Gene Symbol: |
PLCB4 |
PLCB4
|
Body mass index
|
|
0.700 |
GeneticVariation |
GWASCAT |
Leveraging Polygenic Functional Enrichment to Improve GWAS Power.
|
30595370 |
2019 |
rs397514481
|
Entrez Id: |
5332 |
Gene Symbol: |
PLCB4 |
PLCB4
|
AURICULOCONDYLAR SYNDROME 2
|
A |
0.800 |
CausalMutation |
CLINVAR |
Heterogeneity of mutational mechanisms and modes of inheritance in auriculocondylar syndrome.
|
23315542 |
2013 |
rs1568763104
|
Entrez Id: |
5332 |
Gene Symbol: |
PLCB4 |
PLCB4
|
AURICULOCONDYLAR SYNDROME 2
|
A |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs397514481
|
Entrez Id: |
5332 |
Gene Symbol: |
PLCB4 |
PLCB4
|
Multiple congenital anomalies
|
A |
0.700 |
GeneticVariation |
CLINVAR |
Question mark ears and post-auricular tags.
|
18314001 |
2008 |
rs397514481
|
Entrez Id: |
5332 |
Gene Symbol: |
PLCB4 |
PLCB4
|
Muscle hypotonia
|
A |
0.700 |
GeneticVariation |
CLINVAR |
A human homeotic transformation resulting from mutations in PLCB4 and GNAI3 causes auriculocondylar syndrome.
|
22560091 |
2012 |
rs397514481
|
Entrez Id: |
5332 |
Gene Symbol: |
PLCB4 |
PLCB4
|
Dysmorphic features
|
A |
0.700 |
GeneticVariation |
CLINVAR |
Question mark ears and post-auricular tags.
|
18314001 |
2008 |
rs397514481
|
Entrez Id: |
5332 |
Gene Symbol: |
PLCB4 |
PLCB4
|
Muscle hypotonia
|
A |
0.700 |
GeneticVariation |
CLINVAR |
Respiratory and gastrointestinal dysfunctions associated with auriculo-condylar syndrome and a homozygous PLCB4 loss-of-function mutation.
|
27007857 |
2016 |
rs397514481
|
Entrez Id: |
5332 |
Gene Symbol: |
PLCB4 |
PLCB4
|
Dysmorphic features
|
A |
0.700 |
GeneticVariation |
CLINVAR |
A human homeotic transformation resulting from mutations in PLCB4 and GNAI3 causes auriculocondylar syndrome.
|
22560091 |
2012 |
rs397514481
|
Entrez Id: |
5332 |
Gene Symbol: |
PLCB4 |
PLCB4
|
Dysmorphic features
|
A |
0.700 |
GeneticVariation |
CLINVAR |
Respiratory and gastrointestinal dysfunctions associated with auriculo-condylar syndrome and a homozygous PLCB4 loss-of-function mutation.
|
27007857 |
2016 |
rs397514481
|
Entrez Id: |
5332 |
Gene Symbol: |
PLCB4 |
PLCB4
|
Muscle hypotonia
|
A |
0.700 |
GeneticVariation |
CLINVAR |
Targeted molecular investigation in patients within the clinical spectrum of Auriculocondylar syndrome.
|
28328130 |
2017 |
rs397514481
|
Entrez Id: |
5332 |
Gene Symbol: |
PLCB4 |
PLCB4
|
Multiple congenital anomalies
|
A |
0.700 |
GeneticVariation |
CLINVAR |
Targeted molecular investigation in patients within the clinical spectrum of Auriculocondylar syndrome.
|
28328130 |
2017 |
rs397514481
|
Entrez Id: |
5332 |
Gene Symbol: |
PLCB4 |
PLCB4
|
Multiple congenital anomalies
|
A |
0.700 |
GeneticVariation |
CLINVAR |
Auriculo-condylar syndrome is associated with highly variable ear and mandibular defects in multiple kindreds.
|
16114046 |
2005 |
rs397514481
|
Entrez Id: |
5332 |
Gene Symbol: |
PLCB4 |
PLCB4
|
Dysmorphic features
|
A |
0.700 |
GeneticVariation |
CLINVAR |
Heterogeneity of mutational mechanisms and modes of inheritance in auriculocondylar syndrome.
|
23315542 |
2013 |
rs397514481
|
Entrez Id: |
5332 |
Gene Symbol: |
PLCB4 |
PLCB4
|
Dysmorphic features
|
A |
0.700 |
GeneticVariation |
CLINVAR |
Targeted molecular investigation in patients within the clinical spectrum of Auriculocondylar syndrome.
|
28328130 |
2017 |
rs397514481
|
Entrez Id: |
5332 |
Gene Symbol: |
PLCB4 |
PLCB4
|
Auriculocondylar syndrome 1
|
A |
0.700 |
CausalMutation |
CLINVAR |
A human homeotic transformation resulting from mutations in PLCB4 and GNAI3 causes auriculocondylar syndrome.
|
22560091 |
2012 |
rs397514481
|
Entrez Id: |
5332 |
Gene Symbol: |
PLCB4 |
PLCB4
|
Multiple congenital anomalies
|
A |
0.700 |
GeneticVariation |
CLINVAR |
A human homeotic transformation resulting from mutations in PLCB4 and GNAI3 causes auriculocondylar syndrome.
|
22560091 |
2012 |
rs397514481
|
Entrez Id: |
5332 |
Gene Symbol: |
PLCB4 |
PLCB4
|
Dysmorphic features
|
A |
0.700 |
GeneticVariation |
CLINVAR |
Auriculo-condylar syndrome is associated with highly variable ear and mandibular defects in multiple kindreds.
|
16114046 |
2005 |