|
| Entrez Id: |
7355 |
| Gene Symbol: |
SLC35A2 |
SLC35A2
|
0.100 |
GeneticVariation
|
phenotype |
CLINVAR |
SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals.
|
30817854 |
2019 |
|
| Entrez Id: |
7020 |
| Gene Symbol: |
TFAP2A |
TFAP2A
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
A clinical and molecular analysis of branchio-oculo-facial syndrome patients in Russia revealed new mutations in TFAP2A.
|
25590586 |
2015 |
|
| Entrez Id: |
10020 |
| Gene Symbol: |
GNE |
GNE
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
26229 |
| Gene Symbol: |
B3GAT3 |
B3GAT3
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
5605 |
| Gene Symbol: |
MAP2K2 |
MAP2K2
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
3764 |
| Gene Symbol: |
KCNJ8 |
KCNJ8
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
4222 |
| Gene Symbol: |
MEOX1 |
MEOX1
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
5894 |
| Gene Symbol: |
RAF1 |
RAF1
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
25836 |
| Gene Symbol: |
NIPBL |
NIPBL
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
3954 |
| Gene Symbol: |
LETM1 |
LETM1
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
8216 |
| Gene Symbol: |
LZTR1 |
LZTR1
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
3479 |
| Gene Symbol: |
IGF1 |
IGF1
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
SLC25A24
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
673 |
| Gene Symbol: |
BRAF |
BRAF
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
55209 |
| Gene Symbol: |
SETD5 |
SETD5
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
55869 |
| Gene Symbol: |
HDAC8 |
HDAC8
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
|
|
|
|
| Entrez Id: |
4297 |
| Gene Symbol: |
KMT2A |
KMT2A
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
7020 |
| Gene Symbol: |
TFAP2A |
TFAP2A
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
9897 |
| Gene Symbol: |
WASHC5 |
WASHC5
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
2033 |
| Gene Symbol: |
EP300 |
EP300
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
6913 |
| Gene Symbol: |
TBX15 |
TBX15
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
9573 |
| Gene Symbol: |
GDF3 |
GDF3
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
23133 |
| Gene Symbol: |
PHF8 |
PHF8
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
5500 |
| Gene Symbol: |
PPP1CB |
PPP1CB
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
4763 |
| Gene Symbol: |
NF1 |
NF1
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|