|
| Entrez Id: |
26235 |
| Gene Symbol: |
FBXL4 |
FBXL4
|
0.100 |
GeneticVariation
|
phenotype |
CLINVAR |
A novel mutation in FBXL4 in a Norwegian child with encephalomyopathic mitochondrial DNA depletion syndrome 13.
|
27182039 |
2016 |
|
| Entrez Id: |
2782 |
| Gene Symbol: |
GNB1 |
GNB1
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
Germline De Novo Mutations in GNB1 Cause Severe Neurodevelopmental Disability, Hypotonia, and Seizures.
|
27108799 |
2016 |
|
| Entrez Id: |
7994 |
| Gene Symbol: |
KAT6A |
KAT6A
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
Dominant mutations in KAT6A cause intellectual disability with recognizable syndromic features.
|
25728777 |
2015 |
|
| Entrez Id: |
6654 |
| Gene Symbol: |
SOS1 |
SOS1
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
Germline gain-of-function mutations in SOS1 cause Noonan syndrome.
|
17143285 |
2007 |
|
| Entrez Id: |
6654 |
| Gene Symbol: |
SOS1 |
SOS1
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
SOS1 is the second most common Noonan gene but plays no major role in cardio-facio-cutaneous syndrome.
|
17586837 |
2007 |
|
| Entrez Id: |
6654 |
| Gene Symbol: |
SOS1 |
SOS1
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
Gain-of-function SOS1 mutations cause a distinctive form of Noonan syndrome.
|
17143282 |
2007 |
|
| Entrez Id: |
5906 |
| Gene Symbol: |
RAP1A |
RAP1A
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
29078 |
| Gene Symbol: |
NDUFAF4 |
NDUFAF4
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
1859 |
| Gene Symbol: |
DYRK1A |
DYRK1A
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
|
|
|
|
| Entrez Id: |
54870 |
| Gene Symbol: |
QRICH1 |
QRICH1
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
|
|
|
|
| Entrez Id: |
2733 |
| Gene Symbol: |
GLE1 |
GLE1
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
9968 |
| Gene Symbol: |
MED12 |
MED12
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
SLC25A19
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
523 |
| Gene Symbol: |
ATP6V1A |
ATP6V1A
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
4594 |
| Gene Symbol: |
MMUT |
MMUT
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
2530 |
| Gene Symbol: |
FUT8 |
FUT8
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
5813 |
| Gene Symbol: |
PURA |
PURA
|
0.100 |
GeneticVariation
|
phenotype |
CLINVAR |
|
|
|
|
| Entrez Id: |
4728 |
| Gene Symbol: |
NDUFS8 |
NDUFS8
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
10847 |
| Gene Symbol: |
SRCAP |
SRCAP
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
|
|
|
|
| Entrez Id: |
259232 |
| Gene Symbol: |
NALCN |
NALCN
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
23522 |
| Gene Symbol: |
KAT6B |
KAT6B
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
389827 |
| Gene Symbol: |
MYMK |
MYMK
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
8085 |
| Gene Symbol: |
KMT2D |
KMT2D
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
50484 |
| Gene Symbol: |
RRM2B |
RRM2B
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
25915 |
| Gene Symbol: |
NDUFAF3 |
NDUFAF3
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|