|
| 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: |
9772 |
| Gene Symbol: |
TMEM94 |
TMEM94
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
|
|
|
|
| Entrez Id: |
6925 |
| Gene Symbol: |
TCF4 |
TCF4
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
|
|
|
|
| Entrez Id: |
64207 |
| Gene Symbol: |
IRF2BPL |
IRF2BPL
|
0.100 |
GeneticVariation
|
phenotype |
CLINVAR |
|
|
|
|
| Entrez Id: |
112939 |
| Gene Symbol: |
NACC1 |
NACC1
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
|
|
|
|
| Entrez Id: |
5189 |
| Gene Symbol: |
PEX1 |
PEX1
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
|
|
|
|
| Entrez Id: |
1717 |
| Gene Symbol: |
DHCR7 |
DHCR7
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
|
|
|
|
| Entrez Id: |
4853 |
| Gene Symbol: |
NOTCH2 |
NOTCH2
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
|
|
|
|
| Entrez Id: |
2121 |
| Gene Symbol: |
EVC |
EVC
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
|
|
|
|
| Entrez Id: |
2121 |
| Gene Symbol: |
EVC |
EVC
|
0.100 |
GeneticVariation
|
phenotype |
CLINVAR |
|
|
|
|
| Entrez Id: |
23299 |
| Gene Symbol: |
BICD2 |
BICD2
|
0.100 |
GeneticVariation
|
phenotype |
CLINVAR |
|
|
|
|
| Entrez Id: |
867 |
| Gene Symbol: |
CBL |
CBL
|
0.100 |
GeneticVariation
|
phenotype |
CLINVAR |
|
|
|
|
| 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: |
55023 |
| Gene Symbol: |
PHIP |
PHIP
|
0.100 |
GeneticVariation
|
phenotype |
CLINVAR |
|
|
|
|
| Entrez Id: |
1400 |
| Gene Symbol: |
CRMP1 |
CRMP1
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
|
|
|
|
| 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 |
|
|
|