|
| Entrez Id: |
477 |
| Gene Symbol: |
ATP1A2 |
ATP1A2
|
0.100 |
GeneticVariation
|
disease |
CLINVAR |
Biallelic loss of function variants in ATP1A2 cause hydrops fetalis, microcephaly, arthrogryposis and extensive cortical malformations.
|
30690204 |
2020 |
|
EP300-AS1
|
0.100 |
GeneticVariation
|
disease |
CLINVAR |
Comprehensive genomic analysis of patients with disorders of cerebral cortical development.
|
29706646 |
2018 |
|
| Entrez Id: |
2033 |
| Gene Symbol: |
EP300 |
EP300
|
0.100 |
GeneticVariation
|
disease |
CLINVAR |
Comprehensive genomic analysis of patients with disorders of cerebral cortical development.
|
29706646 |
2018 |
|
| Entrez Id: |
259266 |
| Gene Symbol: |
ASPM |
ASPM
|
0.100 |
GeneticVariation
|
disease |
CLINVAR |
Comprehensive genomic analysis of patients with disorders of cerebral cortical development.
|
29706646 |
2018 |
|
| Entrez Id: |
8417 |
| Gene Symbol: |
STX7 |
STX7
|
0.100 |
GeneticVariation
|
disease |
CLINVAR |
Mosaic parental germline mutations causing recurrent forms of malformations of cortical development.
|
26395554 |
2016 |
|
| 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: |
55670 |
| Gene Symbol: |
PEX26 |
PEX26
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
|
| Entrez Id: |
5830 |
| Gene Symbol: |
PEX5 |
PEX5
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
|
| Entrez Id: |
5193 |
| Gene Symbol: |
PEX12 |
PEX12
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
|
| Entrez Id: |
8504 |
| Gene Symbol: |
PEX3 |
PEX3
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
|
| Entrez Id: |
5194 |
| Gene Symbol: |
PEX13 |
PEX13
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
|
| Entrez Id: |
28952 |
| Gene Symbol: |
CCDC22 |
CCDC22
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
|
| Entrez Id: |
57096 |
| Gene Symbol: |
RPGRIP1 |
RPGRIP1
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
|
SCN1A-AS1
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
|
| Entrez Id: |
57545 |
| Gene Symbol: |
CC2D2A |
CC2D2A
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
|
| Entrez Id: |
4683 |
| Gene Symbol: |
NBN |
NBN
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
|
| Entrez Id: |
1406 |
| Gene Symbol: |
CRX |
CRX
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
|
| Entrez Id: |
6121 |
| Gene Symbol: |
RPE65 |
RPE65
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
|
| Entrez Id: |
9451 |
| Gene Symbol: |
EIF2AK3 |
EIF2AK3
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
|
| Entrez Id: |
8799 |
| Gene Symbol: |
PEX11B |
PEX11B
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
|
| Entrez Id: |
6197 |
| Gene Symbol: |
RPS6KA3 |
RPS6KA3
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
|
| Entrez Id: |
9215 |
| Gene Symbol: |
LARGE1 |
LARGE1
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
|
| Entrez Id: |
5159 |
| Gene Symbol: |
PDGFRB |
PDGFRB
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
|
| Entrez Id: |
343035 |
| Gene Symbol: |
RD3 |
RD3
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
|
| Entrez Id: |
4538 |
| Gene Symbol: |
ND4 |
ND4
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|