|
| Entrez Id: |
51412 |
| Gene Symbol: |
ACTL6B |
ACTL6B
|
0.100 |
GeneticVariation
|
phenotype |
CLINVAR |
Pathogenic homozygous variations in ACTL6B cause DECAM syndrome: Developmental delay, Epileptic encephalopathy, Cerebral Atrophy, and abnormal Myelination.
|
31134736 |
2019 |
|
| Entrez Id: |
4208 |
| Gene Symbol: |
MEF2C |
MEF2C
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
MEF2C haploinsufficiency syndrome: Report of a new MEF2C mutation and review.
|
27255693 |
2016 |
|
| Entrez Id: |
4935 |
| Gene Symbol: |
GPR143 |
GPR143
|
0.100 |
GeneticVariation
|
phenotype |
CLINVAR |
|
|
|
|
| Entrez Id: |
4535 |
| Gene Symbol: |
ND1 |
ND1
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
22827 |
| Gene Symbol: |
PUF60 |
PUF60
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
23316 |
| Gene Symbol: |
CUX2 |
CUX2
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
4728 |
| Gene Symbol: |
NDUFS8 |
NDUFS8
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
4724 |
| Gene Symbol: |
NDUFS4 |
NDUFS4
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
CACNA2D2
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
126328 |
| Gene Symbol: |
NDUFA11 |
NDUFA11
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
4719 |
| Gene Symbol: |
NDUFS1 |
NDUFS1
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
2290 |
| Gene Symbol: |
FOXG1 |
FOXG1
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
29078 |
| Gene Symbol: |
NDUFAF4 |
NDUFAF4
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
54551 |
| Gene Symbol: |
MAGEL2 |
MAGEL2
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
|
|
|
|
| Entrez Id: |
79133 |
| Gene Symbol: |
NDUFAF5 |
NDUFAF5
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
4208 |
| Gene Symbol: |
MEF2C |
MEF2C
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
51227 |
| Gene Symbol: |
PIGP |
PIGP
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
9758 |
| Gene Symbol: |
FRMPD4 |
FRMPD4
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
2902 |
| Gene Symbol: |
GRIN1 |
GRIN1
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
51103 |
| Gene Symbol: |
NDUFAF1 |
NDUFAF1
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
10522 |
| Gene Symbol: |
DEAF1 |
DEAF1
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
1291 |
| Gene Symbol: |
COL6A1 |
COL6A1
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
|
|
|
|
| Entrez Id: |
374291 |
| Gene Symbol: |
NDUFS7 |
NDUFS7
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
85358 |
| Gene Symbol: |
SHANK3 |
SHANK3
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
23287 |
| Gene Symbol: |
AGTPBP1 |
AGTPBP1
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|