|
| 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: |
1674 |
| Gene Symbol: |
DES |
DES
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
|
|
|
|
| Entrez Id: |
8292 |
| Gene Symbol: |
COLQ |
COLQ
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
6834 |
| Gene Symbol: |
SURF1 |
SURF1
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
57465 |
| Gene Symbol: |
TBC1D24 |
TBC1D24
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
4297 |
| Gene Symbol: |
KMT2A |
KMT2A
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
|
|
|
|
| Entrez Id: |
57061 |
| Gene Symbol: |
HYMAI |
HYMAI
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
5727 |
| Gene Symbol: |
PTCH1 |
PTCH1
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
|
|
|
|
| Entrez Id: |
3767 |
| Gene Symbol: |
KCNJ11 |
KCNJ11
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
50484 |
| Gene Symbol: |
RRM2B |
RRM2B
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
401 |
| Gene Symbol: |
PHOX2A |
PHOX2A
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
165 |
| Gene Symbol: |
AEBP1 |
AEBP1
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
23203 |
| Gene Symbol: |
PMPCA |
PMPCA
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
|
|
|
|
| Entrez Id: |
4720 |
| Gene Symbol: |
NDUFS2 |
NDUFS2
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
5053 |
| Gene Symbol: |
PAH |
PAH
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
3845 |
| Gene Symbol: |
KRAS |
KRAS
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
|
|
|
|
| Entrez Id: |
1716 |
| Gene Symbol: |
DGUOK |
DGUOK
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
23394 |
| Gene Symbol: |
ADNP |
ADNP
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
7084 |
| Gene Symbol: |
TK2 |
TK2
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
4285 |
| Gene Symbol: |
MIPEP |
MIPEP
|
0.100 |
GeneticVariation
|
phenotype |
CLINVAR |
|
|
|
|
| Entrez Id: |
55209 |
| Gene Symbol: |
SETD5 |
SETD5
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
246243 |
| Gene Symbol: |
RNASEH1 |
RNASEH1
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
5781 |
| Gene Symbol: |
PTPN11 |
PTPN11
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
|
|
|
|
| Entrez Id: |
5325 |
| Gene Symbol: |
PLAGL1 |
PLAGL1
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
6774 |
| Gene Symbol: |
STAT3 |
STAT3
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|