|
| 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: |
10577 |
| Gene Symbol: |
NPC2 |
NPC2
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
|
| Entrez Id: |
51102 |
| Gene Symbol: |
MECR |
MECR
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
|
| Entrez Id: |
1859 |
| Gene Symbol: |
DYRK1A |
DYRK1A
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
|
| Entrez Id: |
6261 |
| Gene Symbol: |
RYR1 |
RYR1
|
0.100 |
GeneticVariation
|
disease |
CLINVAR |
|
|
|
|
| Entrez Id: |
816 |
| Gene Symbol: |
CAMK2B |
CAMK2B
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability.
|
29100089 |
2017 |
|
| Entrez Id: |
6786 |
| Gene Symbol: |
STIM1 |
STIM1
|
0.100 |
GeneticVariation
|
disease |
CLINVAR |
|
|
|
|
| Entrez Id: |
2475 |
| Gene Symbol: |
MTOR |
MTOR
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
Association of MTOR Mutations With Developmental Brain Disorders, Including Megalencephaly, Focal Cortical Dysplasia, and Pigmentary Mosaicism.
|
27159400 |
2016 |
|
| 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: |
815 |
| Gene Symbol: |
CAMK2A |
CAMK2A
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability.
|
29100089 |
2017 |
|
| Entrez Id: |
23474 |
| Gene Symbol: |
ETHE1 |
ETHE1
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
|
| Entrez Id: |
1778 |
| Gene Symbol: |
DYNC1H1 |
DYNC1H1
|
0.100 |
GeneticVariation
|
disease |
CLINVAR |
|
|
|
|
| Entrez Id: |
6326 |
| Gene Symbol: |
SCN2A |
SCN2A
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
|
| Entrez Id: |
5813 |
| Gene Symbol: |
PURA |
PURA
|
0.100 |
GeneticVariation
|
disease |
CLINVAR |
|
|
|
|
| Entrez Id: |
63895 |
| Gene Symbol: |
PIEZO2 |
PIEZO2
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
|
| Entrez Id: |
64324 |
| Gene Symbol: |
NSD1 |
NSD1
|
0.100 |
GeneticVariation
|
disease |
CLINVAR |
|
|
|
|
| Entrez Id: |
118429 |
| Gene Symbol: |
ANTXR2 |
ANTXR2
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
|
| Entrez Id: |
7273 |
| Gene Symbol: |
TTN |
TTN
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
|
| Entrez Id: |
1291 |
| Gene Symbol: |
COL6A1 |
COL6A1
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
|
| Entrez Id: |
4297 |
| Gene Symbol: |
KMT2A |
KMT2A
|
0.100 |
CausalMutation
|
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 |
|
|
|