Entrez Id: |
55023 |
Gene Symbol: |
PHIP |
PHIP
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
|
|
|
Entrez Id: |
6664 |
Gene Symbol: |
SOX11 |
SOX11
|
0.100 |
GeneticVariation
|
phenotype |
CLINVAR |
|
|
|
Entrez Id: |
2706 |
Gene Symbol: |
GJB2 |
GJB2
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
|
|
|
Entrez Id: |
284217 |
Gene Symbol: |
LAMA1 |
LAMA1
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
|
|
|
Entrez Id: |
55023 |
Gene Symbol: |
PHIP |
PHIP
|
0.100 |
GeneticVariation
|
phenotype |
CLINVAR |
|
|
|
Entrez Id: |
10522 |
Gene Symbol: |
DEAF1 |
DEAF1
|
0.100 |
GeneticVariation
|
phenotype |
CLINVAR |
Functional analysis of novel DEAF1 variants identified through clinical exome sequencing expands DEAF1-associated neurodevelopmental disorder (DAND) phenotype.
|
28940898 |
2017 |
Entrez Id: |
8322 |
Gene Symbol: |
FZD4 |
FZD4
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
|
|
|
Entrez Id: |
138050 |
Gene Symbol: |
HGSNAT |
HGSNAT
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
|
|
|
IRAK1BP1
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
|
|
|
Entrez Id: |
6786 |
Gene Symbol: |
STIM1 |
STIM1
|
0.100 |
GeneticVariation
|
phenotype |
CLINVAR |
|
|
|
Entrez Id: |
81603 |
Gene Symbol: |
TRIM8 |
TRIM8
|
0.100 |
GeneticVariation
|
phenotype |
CLINVAR |
|
|
|
Entrez Id: |
8831 |
Gene Symbol: |
SYNGAP1 |
SYNGAP1
|
0.100 |
GeneticVariation
|
phenotype |
CLINVAR |
|
|
|
Entrez Id: |
10522 |
Gene Symbol: |
DEAF1 |
DEAF1
|
0.100 |
GeneticVariation
|
phenotype |
CLINVAR |
Exome analysis of Smith-Magenis-like syndrome cohort identifies de novo likely pathogenic variants.
|
28213671 |
2017 |
Entrez Id: |
23394 |
Gene Symbol: |
ADNP |
ADNP
|
0.100 |
GeneticVariation
|
phenotype |
CLINVAR |
|
|
|
Entrez Id: |
11098 |
Gene Symbol: |
PRSS23 |
PRSS23
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
|
|
|
Entrez Id: |
7726 |
Gene Symbol: |
TRIM26 |
TRIM26
|
0.100 |
GeneticVariation
|
phenotype |
GWASCAT |
Genome-wide association study of proneness to anger.
|
24489884 |
2014 |
Entrez Id: |
5251 |
Gene Symbol: |
PHEX |
PHEX
|
0.100 |
GeneticVariation
|
phenotype |
GWASCAT |
Genome-wide association study of proneness to anger.
|
24489884 |
2014 |
Entrez Id: |
2534 |
Gene Symbol: |
FYN |
FYN
|
0.100 |
GeneticVariation
|
phenotype |
GWASCAT |
Genome-wide association study of proneness to anger.
|
24489884 |
2014 |
PTCHD1-AS
|
0.100 |
GeneticVariation
|
phenotype |
GWASCAT |
Genome-wide association study of proneness to anger.
|
24489884 |
2014 |
Entrez Id: |
6601 |
Gene Symbol: |
SMARCC2 |
SMARCC2
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
Entrez Id: |
2554 |
Gene Symbol: |
GABRA1 |
GABRA1
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
Entrez Id: |
7305 |
Gene Symbol: |
TYROBP |
TYROBP
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
Entrez Id: |
22995 |
Gene Symbol: |
CEP152 |
CEP152
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
Entrez Id: |
23394 |
Gene Symbol: |
ADNP |
ADNP
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
Entrez Id: |
7915 |
Gene Symbol: |
ALDH5A1 |
ALDH5A1
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|