|
| Entrez Id: |
4882 |
| Gene Symbol: |
NPR2 |
NPR2
|
0.100 |
GeneticVariation
|
phenotype |
CLINVAR |
|
|
|
|
| Entrez Id: |
4285 |
| Gene Symbol: |
MIPEP |
MIPEP
|
0.100 |
GeneticVariation
|
phenotype |
CLINVAR |
|
|
|
|
| Entrez Id: |
6833 |
| Gene Symbol: |
ABCC8 |
ABCC8
|
0.100 |
GeneticVariation
|
phenotype |
CLINVAR |
|
|
|
|
| Entrez Id: |
55023 |
| Gene Symbol: |
PHIP |
PHIP
|
0.100 |
GeneticVariation
|
phenotype |
CLINVAR |
|
|
|
|
| Entrez Id: |
79631 |
| Gene Symbol: |
EFL1 |
EFL1
|
0.100 |
GeneticVariation
|
phenotype |
CLINVAR |
|
|
|
|
| Entrez Id: |
64207 |
| Gene Symbol: |
IRF2BPL |
IRF2BPL
|
0.100 |
GeneticVariation
|
phenotype |
CLINVAR |
|
|
|
|
| Entrez Id: |
27152 |
| Gene Symbol: |
INTU |
INTU
|
0.100 |
GeneticVariation
|
phenotype |
CLINVAR |
|
|
|
|
| Entrez Id: |
9373 |
| Gene Symbol: |
PLAA |
PLAA
|
0.100 |
GeneticVariation
|
phenotype |
CLINVAR |
|
|
|
|
| Entrez Id: |
8021 |
| Gene Symbol: |
NUP214 |
NUP214
|
0.100 |
GeneticVariation
|
phenotype |
CLINVAR |
|
|
|
|
| Entrez Id: |
6495 |
| Gene Symbol: |
SIX1 |
SIX1
|
0.100 |
GeneticVariation
|
phenotype |
CLINVAR |
|
|
|
|
| Entrez Id: |
57192 |
| Gene Symbol: |
MCOLN1 |
MCOLN1
|
0.100 |
GeneticVariation
|
phenotype |
CLINVAR |
|
|
|
|
| Entrez Id: |
285175 |
| Gene Symbol: |
UNC80 |
UNC80
|
0.100 |
GeneticVariation
|
phenotype |
CLINVAR |
|
|
|
|
| Entrez Id: |
1291 |
| Gene Symbol: |
COL6A1 |
COL6A1
|
0.100 |
GeneticVariation
|
phenotype |
CLINVAR |
|
|
|
|
| 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: |
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: |
55750 |
| Gene Symbol: |
AGK |
AGK
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|