|
| Entrez Id: |
2073 |
| Gene Symbol: |
ERCC5 |
ERCC5
|
0.100 |
GeneticVariation
|
disease |
CLINVAR |
|
|
|
|
| Entrez Id: |
10479 |
| Gene Symbol: |
SLC9A6 |
SLC9A6
|
0.100 |
GeneticVariation
|
disease |
CLINVAR |
|
|
|
|
BIVM-ERCC5
|
0.100 |
GeneticVariation
|
disease |
CLINVAR |
|
|
|
|
FAM120AOS
|
0.100 |
GeneticVariation
|
disease |
CLINVAR |
|
|
|
|
| Entrez Id: |
1756 |
| Gene Symbol: |
DMD |
DMD
|
0.100 |
GeneticVariation
|
disease |
CLINVAR |
|
|
|
|
| Entrez Id: |
22880 |
| Gene Symbol: |
MORC2 |
MORC2
|
0.100 |
GeneticVariation
|
disease |
CLINVAR |
|
|
|
|
| Entrez Id: |
22827 |
| Gene Symbol: |
PUF60 |
PUF60
|
0.100 |
GeneticVariation
|
disease |
CLINVAR |
|
|
|
|
| Entrez Id: |
64061 |
| Gene Symbol: |
TSPYL2 |
TSPYL2
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
Post-infancy, the patient developed acral dysmorphism and pectus excavatum the latter rarely found in CDA1.
|
24420417 |
2014 |
|
| Entrez Id: |
2138 |
| Gene Symbol: |
EYA1 |
EYA1
|
0.010 |
GeneticVariation
|
disease |
LHGDN |
Identification of a novel EYA1 mutation presenting in a newborn with laryngomalacia, glossoptosis, retrognathia, and pectus excavatum.
|
16691597 |
2006 |
|
| Entrez Id: |
146059 |
| Gene Symbol: |
CDAN1 |
CDAN1
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
Post-infancy, the patient developed acral dysmorphism and pectus excavatum the latter rarely found in CDA1.
|
24420417 |
2014 |
|
| Entrez Id: |
3679 |
| Gene Symbol: |
ITGA7 |
ITGA7
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
|
| Entrez Id: |
147372 |
| Gene Symbol: |
CCBE1 |
CCBE1
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
|
| Entrez Id: |
51314 |
| Gene Symbol: |
NME8 |
NME8
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
|
| Entrez Id: |
30008 |
| Gene Symbol: |
EFEMP2 |
EFEMP2
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
|
| Entrez Id: |
25981 |
| Gene Symbol: |
DNAH1 |
DNAH1
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
|
| Entrez Id: |
6103 |
| Gene Symbol: |
RPGR |
RPGR
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
|
| Entrez Id: |
650 |
| Gene Symbol: |
BMP2 |
BMP2
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
|
| Entrez Id: |
27148 |
| Gene Symbol: |
STK36 |
STK36
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
|
| Entrez Id: |
8242 |
| Gene Symbol: |
KDM5C |
KDM5C
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
|
| Entrez Id: |
673 |
| Gene Symbol: |
BRAF |
BRAF
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
|
| Entrez Id: |
100144748 |
| Gene Symbol: |
KLLN |
KLLN
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
|
| Entrez Id: |
56203 |
| Gene Symbol: |
LMOD3 |
LMOD3
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
|
| Entrez Id: |
1387 |
| Gene Symbol: |
CREBBP |
CREBBP
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
|
| Entrez Id: |
54888 |
| Gene Symbol: |
NSUN2 |
NSUN2
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
|
| Entrez Id: |
7461 |
| Gene Symbol: |
CLIP2 |
CLIP2
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|