|
| Entrez Id: |
51053 |
| Gene Symbol: |
GMNN |
GMNN
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
De Novo GMNN Mutations Cause Autosomal-Dominant Primordial Dwarfism Associated with Meier-Gorlin Syndrome.
|
26637980 |
2015 |
|
| Entrez Id: |
51053 |
| Gene Symbol: |
GMNN |
GMNN
|
0.100 |
GeneticVariation
|
phenotype |
CLINVAR |
De Novo GMNN Mutations Cause Autosomal-Dominant Primordial Dwarfism Associated with Meier-Gorlin Syndrome.
|
26637980 |
2015 |
|
| Entrez Id: |
9126 |
| Gene Symbol: |
SMC3 |
SMC3
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
55869 |
| Gene Symbol: |
HDAC8 |
HDAC8
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
6261 |
| Gene Symbol: |
RYR1 |
RYR1
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
25836 |
| Gene Symbol: |
NIPBL |
NIPBL
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
10436 |
| Gene Symbol: |
EMG1 |
EMG1
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
53834 |
| Gene Symbol: |
FGFRL1 |
FGFRL1
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
1161 |
| Gene Symbol: |
ERCC8 |
ERCC8
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
10815 |
| Gene Symbol: |
CPLX1 |
CPLX1
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
7252 |
| Gene Symbol: |
TSHB |
TSHB
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
1487 |
| Gene Symbol: |
CTBP1 |
CTBP1
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
5449 |
| Gene Symbol: |
POU1F1 |
POU1F1
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
79158 |
| Gene Symbol: |
GNPTAB |
GNPTAB
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
3954 |
| Gene Symbol: |
LETM1 |
LETM1
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
5885 |
| Gene Symbol: |
RAD21 |
RAD21
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
7468 |
| Gene Symbol: |
NSD2 |
NSD2
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
80816 |
| Gene Symbol: |
ASXL3 |
ASXL3
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
7466 |
| Gene Symbol: |
WFS1 |
WFS1
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
89884 |
| Gene Symbol: |
LHX4 |
LHX4
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
7157 |
| Gene Symbol: |
TP53 |
TP53
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
|
|
|
|
| Entrez Id: |
51199 |
| Gene Symbol: |
NIN |
NIN
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
23729 |
| Gene Symbol: |
SHPK |
SHPK
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
8243 |
| Gene Symbol: |
SMC1A |
SMC1A
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
4297 |
| Gene Symbol: |
KMT2A |
KMT2A
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|