|
| Entrez Id: |
815 |
| Gene Symbol: |
CAMK2A |
CAMK2A
|
0.100 |
GeneticVariation
|
disease |
CLINVAR |
De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability.
|
29100089 |
2017 |
|
| Entrez Id: |
63895 |
| Gene Symbol: |
PIEZO2 |
PIEZO2
|
0.100 |
GeneticVariation
|
disease |
CLINVAR |
|
|
|
|
| Entrez Id: |
57215 |
| Gene Symbol: |
THAP11 |
THAP11
|
0.100 |
GeneticVariation
|
disease |
CLINVAR |
|
|
|
|
| Entrez Id: |
80152 |
| Gene Symbol: |
CENPT |
CENPT
|
0.100 |
GeneticVariation
|
disease |
CLINVAR |
|
|
|
|
| Entrez Id: |
4593 |
| Gene Symbol: |
MUSK |
MUSK
|
0.100 |
GeneticVariation
|
disease |
CLINVAR |
|
|
|
|
| Entrez Id: |
4983 |
| Gene Symbol: |
OPHN1 |
OPHN1
|
0.100 |
GeneticVariation
|
disease |
CLINVAR |
|
|
|
|
| Entrez Id: |
7173 |
| Gene Symbol: |
TPO |
TPO
|
0.100 |
GeneticVariation
|
disease |
CLINVAR |
|
|
|
|
| Entrez Id: |
523 |
| Gene Symbol: |
ATP6V1A |
ATP6V1A
|
0.100 |
GeneticVariation
|
disease |
CLINVAR |
|
|
|
|
| Entrez Id: |
7874 |
| Gene Symbol: |
USP7 |
USP7
|
0.100 |
GeneticVariation
|
disease |
CLINVAR |
|
|
|
|
| Entrez Id: |
100506866 |
| Gene Symbol: |
TTN-AS1 |
TTN-AS1
|
0.100 |
GeneticVariation
|
disease |
CLINVAR |
|
|
|
|
| Entrez Id: |
2892 |
| Gene Symbol: |
GRIA3 |
GRIA3
|
0.100 |
GeneticVariation
|
disease |
CLINVAR |
A point mutation in the ion conduction pore of AMPA receptor GRIA3 causes dramatically perturbed sleep patterns as well as intellectual disability.
|
29016847 |
2017 |
|
| Entrez Id: |
6261 |
| Gene Symbol: |
RYR1 |
RYR1
|
0.100 |
GeneticVariation
|
disease |
CLINVAR |
|
|
|
|
| Entrez Id: |
6786 |
| Gene Symbol: |
STIM1 |
STIM1
|
0.100 |
GeneticVariation
|
disease |
CLINVAR |
|
|
|
|
| Entrez Id: |
773 |
| Gene Symbol: |
CACNA1A |
CACNA1A
|
0.100 |
GeneticVariation
|
disease |
CLINVAR |
|
|
|
|
| Entrez Id: |
1291 |
| Gene Symbol: |
COL6A1 |
COL6A1
|
0.100 |
GeneticVariation
|
disease |
CLINVAR |
|
|
|
|
| Entrez Id: |
64207 |
| Gene Symbol: |
IRF2BPL |
IRF2BPL
|
0.100 |
GeneticVariation
|
disease |
CLINVAR |
|
|
|
|
| Entrez Id: |
7273 |
| Gene Symbol: |
TTN |
TTN
|
0.100 |
GeneticVariation
|
disease |
CLINVAR |
|
|
|
|
| Entrez Id: |
1778 |
| Gene Symbol: |
DYNC1H1 |
DYNC1H1
|
0.100 |
GeneticVariation
|
disease |
CLINVAR |
|
|
|
|
| Entrez Id: |
5813 |
| Gene Symbol: |
PURA |
PURA
|
0.100 |
GeneticVariation
|
disease |
CLINVAR |
|
|
|
|
| Entrez Id: |
64324 |
| Gene Symbol: |
NSD1 |
NSD1
|
0.100 |
GeneticVariation
|
disease |
CLINVAR |
|
|
|
|
| Entrez Id: |
6872 |
| Gene Symbol: |
TAF1 |
TAF1
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
|
| Entrez Id: |
7319 |
| Gene Symbol: |
UBE2A |
UBE2A
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
|
| Entrez Id: |
7138 |
| Gene Symbol: |
TNNT1 |
TNNT1
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
|
| Entrez Id: |
1145 |
| Gene Symbol: |
CHRNE |
CHRNE
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
|
| Entrez Id: |
1302 |
| Gene Symbol: |
COL11A2 |
COL11A2
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|