|
SLC25A10
|
0.100 |
GeneticVariation
|
phenotype |
CLINVAR |
SLC25A10 biallelic mutations in intractable epileptic encephalopathy with complex I deficiency.
|
29211846 |
2018 |
|
| Entrez Id: |
4285 |
| Gene Symbol: |
MIPEP |
MIPEP
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
MIPEP recessive variants cause a syndrome of left ventricular non-compaction, hypotonia, and infantile death.
|
27799064 |
2016 |
|
| Entrez Id: |
547 |
| Gene Symbol: |
KIF1A |
KIF1A
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
De novo dominant variants affecting the motor domain of KIF1A are a cause of PEHO syndrome.
|
26486474 |
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: |
79868 |
| Gene Symbol: |
ALG13 |
ALG13
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
De novo mutations in epileptic encephalopathies.
|
23934111 |
2013 |
|
| Entrez Id: |
4041 |
| Gene Symbol: |
LRP5 |
LRP5
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
546 |
| Gene Symbol: |
ATRX |
ATRX
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
285175 |
| Gene Symbol: |
UNC80 |
UNC80
|
0.100 |
GeneticVariation
|
phenotype |
CLINVAR |
|
|
|
|
| Entrez Id: |
7355 |
| Gene Symbol: |
SLC35A2 |
SLC35A2
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
6326 |
| Gene Symbol: |
SCN2A |
SCN2A
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
57107 |
| Gene Symbol: |
PDSS2 |
PDSS2
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
54658 |
| Gene Symbol: |
UGT1A1 |
UGT1A1
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
8831 |
| Gene Symbol: |
SYNGAP1 |
SYNGAP1
|
0.100 |
GeneticVariation
|
phenotype |
CLINVAR |
|
|
|
|
| Entrez Id: |
103 |
| Gene Symbol: |
ADAR |
ADAR
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
4750 |
| Gene Symbol: |
NEK1 |
NEK1
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
SLC25A22
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
23636 |
| Gene Symbol: |
NUP62 |
NUP62
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
84342 |
| Gene Symbol: |
COG8 |
COG8
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
23126 |
| Gene Symbol: |
POGZ |
POGZ
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
4537 |
| Gene Symbol: |
ND3 |
ND3
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
79147 |
| Gene Symbol: |
FKRP |
FKRP
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
8642 |
| Gene Symbol: |
DCHS1 |
DCHS1
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
4508 |
| Gene Symbol: |
ATP6 |
ATP6
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
6611 |
| Gene Symbol: |
SMS |
SMS
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
9968 |
| Gene Symbol: |
MED12 |
MED12
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|