|
| Entrez Id: |
6833 |
| Gene Symbol: |
ABCC8 |
ABCC8
|
0.100 |
GeneticVariation
|
disease |
CLINVAR |
|
|
|
|
| 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: |
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 |
|
ADAMTSL1
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
|
| Entrez Id: |
165 |
| Gene Symbol: |
AEBP1 |
AEBP1
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
|
| Entrez Id: |
10555 |
| Gene Symbol: |
AGPAT2 |
AGPAT2
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
|
| Entrez Id: |
197 |
| Gene Symbol: |
AHSG |
AHSG
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
|
| Entrez Id: |
9049 |
| Gene Symbol: |
AIP |
AIP
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
|
| Entrez Id: |
207 |
| Gene Symbol: |
AKT1 |
AKT1
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
|
ALDH18A1
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
|
| Entrez Id: |
10195 |
| Gene Symbol: |
ALG3 |
ALG3
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
|
| Entrez Id: |
91801 |
| Gene Symbol: |
ALKBH8 |
ALKBH8
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
|
| Entrez Id: |
29123 |
| Gene Symbol: |
ANKRD11 |
ANKRD11
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
|
| Entrez Id: |
8905 |
| Gene Symbol: |
AP1S2 |
AP1S2
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
|
| Entrez Id: |
8943 |
| Gene Symbol: |
AP3D1 |
AP3D1
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
|
| Entrez Id: |
10297 |
| Gene Symbol: |
APC2 |
APC2
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
|
| Entrez Id: |
440 |
| Gene Symbol: |
ASNS |
ASNS
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
|
| Entrez Id: |
523 |
| Gene Symbol: |
ATP6V1A |
ATP6V1A
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
|
| Entrez Id: |
9031 |
| Gene Symbol: |
BAZ1B |
BAZ1B
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
|
| Entrez Id: |
652 |
| Gene Symbol: |
BMP4 |
BMP4
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
|
| Entrez Id: |
673 |
| Gene Symbol: |
BRAF |
BRAF
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
|
| Entrez Id: |
254065 |
| Gene Symbol: |
BRWD3 |
BRWD3
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
|
| Entrez Id: |
26580 |
| Gene Symbol: |
BSCL2 |
BSCL2
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
|
| Entrez Id: |
8573 |
| Gene Symbol: |
CASK |
CASK
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
|
| Entrez Id: |
867 |
| Gene Symbol: |
CBL |
CBL
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|