|
| Entrez Id: |
5885 |
| Gene Symbol: |
RAD21 |
RAD21
|
0.100 |
GeneticVariation
|
phenotype |
CLINVAR |
A novel RAD21 p.(Gln592del) variant expands the clinical description of Cornelia de Lange syndrome type 4 - Review of the literature.
|
30125677 |
2019 |
|
| Entrez Id: |
84294 |
| Gene Symbol: |
UTP23 |
UTP23
|
0.100 |
GeneticVariation
|
phenotype |
CLINVAR |
A novel RAD21 p.(Gln592del) variant expands the clinical description of Cornelia de Lange syndrome type 4 - Review of the literature.
|
30125677 |
2019 |
|
| Entrez Id: |
55768 |
| Gene Symbol: |
NGLY1 |
NGLY1
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
89910 |
| Gene Symbol: |
UBE3B |
UBE3B
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
92579 |
| Gene Symbol: |
G6PC3 |
G6PC3
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
55165 |
| Gene Symbol: |
CEP55 |
CEP55
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
79813 |
| Gene Symbol: |
EHMT1 |
EHMT1
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
6197 |
| Gene Symbol: |
RPS6KA3 |
RPS6KA3
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
727857 |
| Gene Symbol: |
BHLHA9 |
BHLHA9
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
5190 |
| Gene Symbol: |
PEX6 |
PEX6
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
545 |
| Gene Symbol: |
ATR |
ATR
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
5189 |
| Gene Symbol: |
PEX1 |
PEX1
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
150468 |
| Gene Symbol: |
CKAP2L |
CKAP2L
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
1748 |
| Gene Symbol: |
DLX4 |
DLX4
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
57572 |
| Gene Symbol: |
DOCK6 |
DOCK6
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
3479 |
| Gene Symbol: |
IGF1 |
IGF1
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
2245 |
| Gene Symbol: |
FGD1 |
FGD1
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
5515 |
| Gene Symbol: |
PPP2CA |
PPP2CA
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
9896 |
| Gene Symbol: |
FIG4 |
FIG4
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
9772 |
| Gene Symbol: |
TMEM94 |
TMEM94
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
|
|
|
|
| Entrez Id: |
6925 |
| Gene Symbol: |
TCF4 |
TCF4
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
|
|
|
|
| Entrez Id: |
157680 |
| Gene Symbol: |
VPS13B |
VPS13B
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
8200 |
| Gene Symbol: |
GDF5 |
GDF5
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
26040 |
| Gene Symbol: |
SETBP1 |
SETBP1
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
2137 |
| Gene Symbol: |
EXTL3 |
EXTL3
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|