|
| Entrez Id: |
51412 |
| Gene Symbol: |
ACTL6B |
ACTL6B
|
0.100 |
GeneticVariation
|
disease |
CLINVAR |
Pathogenic homozygous variations in ACTL6B cause DECAM syndrome: Developmental delay, Epileptic encephalopathy, Cerebral Atrophy, and abnormal Myelination.
|
31134736 |
2019 |
|
| Entrez Id: |
25 |
| Gene Symbol: |
ABL1 |
ABL1
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
Germline mutations in ABL1 cause an autosomal dominant syndrome characterized by congenital heart defects and skeletal malformations.
|
28288113 |
2017 |
|
| Entrez Id: |
5063 |
| Gene Symbol: |
PAK3 |
PAK3
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
|
| Entrez Id: |
4247 |
| Gene Symbol: |
MGAT2 |
MGAT2
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
|
| Entrez Id: |
81031 |
| Gene Symbol: |
SLC2A10 |
SLC2A10
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
|
| Entrez Id: |
63895 |
| Gene Symbol: |
PIEZO2 |
PIEZO2
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
|
| Entrez Id: |
440 |
| Gene Symbol: |
ASNS |
ASNS
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
|
| Entrez Id: |
3758 |
| Gene Symbol: |
KCNJ1 |
KCNJ1
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
|
| Entrez Id: |
114034 |
| Gene Symbol: |
TOE1 |
TOE1
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
|
| Entrez Id: |
2138 |
| Gene Symbol: |
EYA1 |
EYA1
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
|
ALDH18A1
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
|
| Entrez Id: |
5727 |
| Gene Symbol: |
PTCH1 |
PTCH1
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
|
| Entrez Id: |
2263 |
| Gene Symbol: |
FGFR2 |
FGFR2
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
|
| Entrez Id: |
9049 |
| Gene Symbol: |
AIP |
AIP
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
|
| Entrez Id: |
26128 |
| Gene Symbol: |
KIFBP |
KIFBP
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
|
| Entrez Id: |
2006 |
| Gene Symbol: |
ELN |
ELN
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
|
| Entrez Id: |
83550 |
| Gene Symbol: |
GPR101 |
GPR101
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
|
| Entrez Id: |
1968 |
| Gene Symbol: |
EIF2S3 |
EIF2S3
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
|
| Entrez Id: |
84188 |
| Gene Symbol: |
FAR1 |
FAR1
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
|
| Entrez Id: |
6748 |
| Gene Symbol: |
SSR4 |
SSR4
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
|
| Entrez Id: |
23389 |
| Gene Symbol: |
MED13L |
MED13L
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
|
| Entrez Id: |
207 |
| Gene Symbol: |
AKT1 |
AKT1
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
|
| Entrez Id: |
2904 |
| Gene Symbol: |
GRIN2B |
GRIN2B
|
0.100 |
GeneticVariation
|
disease |
CLINVAR |
|
|
|
|
| Entrez Id: |
4810 |
| Gene Symbol: |
NHS |
NHS
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
|
| Entrez Id: |
58497 |
| Gene Symbol: |
PRUNE1 |
PRUNE1
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|