|
| 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: |
673 |
| Gene Symbol: |
BRAF |
BRAF
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
Germline mutations in genes within the MAPK pathway cause cardio-facio-cutaneous syndrome.
|
16439621 |
2006 |
|
| Entrez Id: |
673 |
| Gene Symbol: |
BRAF |
BRAF
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
Germline KRAS and BRAF mutations in cardio-facio-cutaneous syndrome.
|
16474404 |
2006 |
|
| Entrez Id: |
5159 |
| Gene Symbol: |
PDGFRB |
PDGFRB
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
8733 |
| Gene Symbol: |
GPAA1 |
GPAA1
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
4784 |
| Gene Symbol: |
NFIX |
NFIX
|
0.100 |
GeneticVariation
|
phenotype |
CLINVAR |
|
|
|
|
| Entrez Id: |
65109 |
| Gene Symbol: |
UPF3B |
UPF3B
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
4000 |
| Gene Symbol: |
LMNA |
LMNA
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
4038 |
| Gene Symbol: |
LRP4 |
LRP4
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
1718 |
| Gene Symbol: |
DHCR24 |
DHCR24
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
145173 |
| Gene Symbol: |
B3GLCT |
B3GLCT
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
KIDINS220
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
|
|
|
|
| Entrez Id: |
55904 |
| Gene Symbol: |
KMT2E |
KMT2E
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
8036 |
| Gene Symbol: |
SHOC2 |
SHOC2
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
285175 |
| Gene Symbol: |
UNC80 |
UNC80
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
10297 |
| Gene Symbol: |
APC2 |
APC2
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
2316 |
| Gene Symbol: |
FLNA |
FLNA
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
4281 |
| Gene Symbol: |
MID1 |
MID1
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
2799 |
| Gene Symbol: |
GNS |
GNS
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
9487 |
| Gene Symbol: |
PIGL |
PIGL
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
6792 |
| Gene Symbol: |
CDKL5 |
CDKL5
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
23384 |
| Gene Symbol: |
SPECC1L |
SPECC1L
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
9652 |
| Gene Symbol: |
TTC37 |
TTC37
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
5308 |
| Gene Symbol: |
PITX2 |
PITX2
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
9791 |
| Gene Symbol: |
PTDSS1 |
PTDSS1
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|