|
| Entrez Id: |
8831 |
| Gene Symbol: |
SYNGAP1 |
SYNGAP1
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
Each individual carrying a DNM in SYNGAP1 had moderate-to-severe ID and 7/10 had epilepsy; typically myoclonic seizures, absences or drop attacks.
|
26079862 |
2015 |
|
| Entrez Id: |
2348 |
| Gene Symbol: |
FOLR1 |
FOLR1
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
Sensory stimulus-sensitive drop attacks and basal ganglia calcification: new findings in a patient with FOLR1 deficiency.
|
24556562 |
2014 |
|
| Entrez Id: |
4566 |
| Gene Symbol: |
TRNK |
TRNK
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
"Drop attacks" as first clinical symptoms in a child carrying MTTK m.8344A>G mutation.
|
24374964 |
2013 |
|
| Entrez Id: |
7084 |
| Gene Symbol: |
TK2 |
TK2
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
"Drop attacks" as first clinical symptoms in a child carrying MTTK m.8344A>G mutation.
|
24374964 |
2013 |
|
| Entrez Id: |
3778 |
| Gene Symbol: |
KCNMA1 |
KCNMA1
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
|
| Entrez Id: |
5602 |
| Gene Symbol: |
MAPK10 |
MAPK10
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
|
| Entrez Id: |
23316 |
| Gene Symbol: |
CUX2 |
CUX2
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
|
| Entrez Id: |
10159 |
| Gene Symbol: |
ATP6AP2 |
ATP6AP2
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
|
KCNMA1-AS1
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
|
| Entrez Id: |
112755 |
| Gene Symbol: |
STX1B |
STX1B
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
|
| Entrez Id: |
26227 |
| Gene Symbol: |
PHGDH |
PHGDH
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
|
| Entrez Id: |
9570 |
| Gene Symbol: |
GOSR2 |
GOSR2
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
|
| Entrez Id: |
3736 |
| Gene Symbol: |
KCNA1 |
KCNA1
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
|
| Entrez Id: |
1106 |
| Gene Symbol: |
CHD2 |
CHD2
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
|
| Entrez Id: |
150094 |
| Gene Symbol: |
SIK1 |
SIK1
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
|
| Entrez Id: |
2775 |
| Gene Symbol: |
GNAO1 |
GNAO1
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
|
| Entrez Id: |
57526 |
| Gene Symbol: |
PCDH19 |
PCDH19
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
|
| Entrez Id: |
7957 |
| Gene Symbol: |
EPM2A |
EPM2A
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
|
| Entrez Id: |
9091 |
| Gene Symbol: |
PIGQ |
PIGQ
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
|
| Entrez Id: |
1759 |
| Gene Symbol: |
DNM1 |
DNM1
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
|
| Entrez Id: |
4761 |
| Gene Symbol: |
NEUROD2 |
NEUROD2
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
|
| Entrez Id: |
2562 |
| Gene Symbol: |
GABRB3 |
GABRB3
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
|
| Entrez Id: |
84059 |
| Gene Symbol: |
ADGRV1 |
ADGRV1
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
|
| Entrez Id: |
51227 |
| Gene Symbol: |
PIGP |
PIGP
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
|
PRICKLE1
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|