Entrez Id: |
7468 |
Gene Symbol: |
NSD2 |
NSD2
|
0.300 |
Biomarker
|
phenotype |
GENOMICS_ENGLAND |
Small 4p16.3 deletions: Three additional patients and review of the literature.
|
30244530 |
2018 |
Entrez Id: |
10735 |
Gene Symbol: |
STAG2 |
STAG2
|
0.300 |
Biomarker
|
phenotype |
GENOMICS_ENGLAND |
Microduplication of chromosome Xq25 encompassing STAG2 gene in a boy with intellectual disability.
|
25450604 |
2015 |
Entrez Id: |
6659 |
Gene Symbol: |
SOX4 |
SOX4
|
0.300 |
Biomarker
|
phenotype |
GENOMICS_ENGLAND |
De Novo SOX4 Variants Cause a Neurodevelopmental Disease Associated with Mild Dysmorphism.
|
30661772 |
2019 |
Entrez Id: |
142680 |
Gene Symbol: |
SLC34A3 |
SLC34A3
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
Entrez Id: |
93210 |
Gene Symbol: |
PGAP3 |
PGAP3
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
Entrez Id: |
3918 |
Gene Symbol: |
LAMC2 |
LAMC2
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
Entrez Id: |
4882 |
Gene Symbol: |
NPR2 |
NPR2
|
0.100 |
GeneticVariation
|
phenotype |
CLINVAR |
|
|
|
Entrez Id: |
51010 |
Gene Symbol: |
EXOSC3 |
EXOSC3
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
Entrez Id: |
1716 |
Gene Symbol: |
DGUOK |
DGUOK
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
Entrez Id: |
56945 |
Gene Symbol: |
MRPS22 |
MRPS22
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
Entrez Id: |
7466 |
Gene Symbol: |
WFS1 |
WFS1
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
Entrez Id: |
6898 |
Gene Symbol: |
TAT |
TAT
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
Entrez Id: |
5830 |
Gene Symbol: |
PEX5 |
PEX5
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
A novel type of rhizomelic chondrodysplasia punctata, RCDP5, is caused by loss of the PEX5 long isoform.
|
26220973 |
2015 |
Entrez Id: |
55750 |
Gene Symbol: |
AGK |
AGK
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
Entrez Id: |
5932 |
Gene Symbol: |
RBBP8 |
RBBP8
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
Entrez Id: |
3265 |
Gene Symbol: |
HRAS |
HRAS
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
Entrez Id: |
80816 |
Gene Symbol: |
ASXL3 |
ASXL3
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
Novel splicing mutation in the ASXL3 gene causing Bainbridge-Ropers syndrome.
|
27075689 |
2016 |
Entrez Id: |
6125 |
Gene Symbol: |
RPL5 |
RPL5
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
Entrez Id: |
340061 |
Gene Symbol: |
STING1 |
STING1
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
Entrez Id: |
10075 |
Gene Symbol: |
HUWE1 |
HUWE1
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
|
|
|
Entrez Id: |
10892 |
Gene Symbol: |
MALT1 |
MALT1
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
Entrez Id: |
790955 |
Gene Symbol: |
UQCC3 |
UQCC3
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
Entrez Id: |
54361 |
Gene Symbol: |
WNT4 |
WNT4
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
Entrez Id: |
1811 |
Gene Symbol: |
SLC26A3 |
SLC26A3
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
Entrez Id: |
117581 |
Gene Symbol: |
TWIST2 |
TWIST2
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|