|
| Entrez Id: |
547 |
| Gene Symbol: |
KIF1A |
KIF1A
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
De novo dominant variants affecting the motor domain of KIF1A are a cause of PEHO syndrome.
|
26486474 |
2016 |
|
| Entrez Id: |
10059 |
| Gene Symbol: |
DNM1L |
DNM1L
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
DNM1L-related mitochondrial fission defect presenting as refractory epilepsy.
|
26604000 |
2016 |
|
| Entrez Id: |
51067 |
| Gene Symbol: |
YARS2 |
YARS2
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
A novel de novo dominant negative mutation in DNM1L impairs mitochondrial fission and presents as childhood epileptic encephalopathy.
|
27145208 |
2016 |
|
| Entrez Id: |
10059 |
| Gene Symbol: |
DNM1L |
DNM1L
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
A novel de novo dominant negative mutation in DNM1L impairs mitochondrial fission and presents as childhood epileptic encephalopathy.
|
27145208 |
2016 |
|
| Entrez Id: |
51067 |
| Gene Symbol: |
YARS2 |
YARS2
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
DNM1L-related mitochondrial fission defect presenting as refractory epilepsy.
|
26604000 |
2016 |
|
| Entrez Id: |
1741 |
| Gene Symbol: |
DLG3 |
DLG3
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
|
| Entrez Id: |
24140 |
| Gene Symbol: |
FTSJ1 |
FTSJ1
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
|
| Entrez Id: |
6197 |
| Gene Symbol: |
RPS6KA3 |
RPS6KA3
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
|
| Entrez Id: |
79868 |
| Gene Symbol: |
ALG13 |
ALG13
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
|
| Entrez Id: |
10479 |
| Gene Symbol: |
SLC9A6 |
SLC9A6
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
|
| Entrez Id: |
64135 |
| Gene Symbol: |
IFIH1 |
IFIH1
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
|
| Entrez Id: |
7102 |
| Gene Symbol: |
TSPAN7 |
TSPAN7
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
|
| Entrez Id: |
523 |
| Gene Symbol: |
ATP6V1A |
ATP6V1A
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
|
| Entrez Id: |
64220 |
| Gene Symbol: |
STRA6 |
STRA6
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
|
| Entrez Id: |
171023 |
| Gene Symbol: |
ASXL1 |
ASXL1
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
|
| Entrez Id: |
6785 |
| Gene Symbol: |
ELOVL4 |
ELOVL4
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
|
| Entrez Id: |
55704 |
| Gene Symbol: |
CCDC88A |
CCDC88A
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
|
| Entrez Id: |
7965 |
| Gene Symbol: |
AIMP2 |
AIMP2
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
|
| Entrez Id: |
5631 |
| Gene Symbol: |
PRPS1 |
PRPS1
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
|
| Entrez Id: |
51807 |
| Gene Symbol: |
TUBA8 |
TUBA8
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
|
| Entrez Id: |
60558 |
| Gene Symbol: |
GUF1 |
GUF1
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
|
| Entrez Id: |
8869 |
| Gene Symbol: |
ST3GAL5 |
ST3GAL5
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
|
| Entrez Id: |
84679 |
| Gene Symbol: |
SLC9A7 |
SLC9A7
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
|
| Entrez Id: |
56270 |
| Gene Symbol: |
WDR45B |
WDR45B
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
|
| Entrez Id: |
55624 |
| Gene Symbol: |
POMGNT1 |
POMGNT1
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|