|
| Entrez Id: |
51816 |
| Gene Symbol: |
ADA2 |
ADA2
|
0.110 |
Biomarker
|
disease |
BEFREE |
Deficiency of ADA2 mimicking autoimmune lymphoproliferative syndrome in the absence of livedo reticularis and vasculitis.
|
29271561 |
2018 |
|
| Entrez Id: |
51816 |
| Gene Symbol: |
ADA2 |
ADA2
|
0.110 |
Biomarker
|
disease |
HPO |
|
|
|
|
| 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: |
4851 |
| Gene Symbol: |
NOTCH1 |
NOTCH1
|
0.100 |
GeneticVariation
|
disease |
CLINVAR |
Mutations in NOTCH1 cause Adams-Oliver syndrome.
|
25132448 |
2014 |
|
| Entrez Id: |
23233 |
| Gene Symbol: |
EXOC6B |
EXOC6B
|
0.100 |
GeneticVariation
|
disease |
CLINVAR |
Mosaic deletion of EXOC6B: further evidence for an important role of the exocyst complex in the pathogenesis of intellectual disability.
|
25256811 |
2014 |
|
| Entrez Id: |
23233 |
| Gene Symbol: |
EXOC6B |
EXOC6B
|
0.100 |
GeneticVariation
|
disease |
CLINVAR |
Disruption of EXOC6B in a patient with developmental delay, epilepsy, and a de novo balanced t(2;8) translocation.
|
23422942 |
2013 |
|
| Entrez Id: |
4629 |
| Gene Symbol: |
MYH11 |
MYH11
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
|
| Entrez Id: |
1663 |
| Gene Symbol: |
DDX11 |
DDX11
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
|
| Entrez Id: |
285203 |
| Gene Symbol: |
EOGT |
EOGT
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
|
| Entrez Id: |
59 |
| Gene Symbol: |
ACTA2 |
ACTA2
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
|
| Entrez Id: |
4615 |
| Gene Symbol: |
MYD88 |
MYD88
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
|
| Entrez Id: |
25 |
| Gene Symbol: |
ABL1 |
ABL1
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
|
| Entrez Id: |
54888 |
| Gene Symbol: |
NSUN2 |
NSUN2
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
|
| Entrez Id: |
6664 |
| Gene Symbol: |
SOX11 |
SOX11
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
|
| Entrez Id: |
5290 |
| Gene Symbol: |
PIK3CA |
PIK3CA
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
|
| Entrez Id: |
4638 |
| Gene Symbol: |
MYLK |
MYLK
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
|
| Entrez Id: |
25836 |
| Gene Symbol: |
NIPBL |
NIPBL
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
|
| Entrez Id: |
6598 |
| Gene Symbol: |
SMARCB1 |
SMARCB1
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
|
| Entrez Id: |
57492 |
| Gene Symbol: |
ARID1B |
ARID1B
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
|
RNASEH2C
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
|
| Entrez Id: |
151188 |
| Gene Symbol: |
ARL6IP6 |
ARL6IP6
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
|
| Entrez Id: |
2006 |
| Gene Symbol: |
ELN |
ELN
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
|
| Entrez Id: |
23590 |
| Gene Symbol: |
PDSS1 |
PDSS1
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
|
| Entrez Id: |
6197 |
| Gene Symbol: |
RPS6KA3 |
RPS6KA3
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
|
| Entrez Id: |
55869 |
| Gene Symbol: |
HDAC8 |
HDAC8
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|