|
| 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: |
5476 |
| Gene Symbol: |
CTSA |
CTSA
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
Clinical utility of whole-exome sequencing in rare diseases: Galactosialidosis.
|
24769197 |
2014 |
|
| Entrez Id: |
5476 |
| Gene Symbol: |
CTSA |
CTSA
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
Structural and functional study of K453E mutant protective protein/cathepsin A causing the late infantile form of galactosialidosis.
|
10944848 |
2000 |
|
| Entrez Id: |
5476 |
| Gene Symbol: |
CTSA |
CTSA
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
Molecular and biochemical analysis of protective protein/cathepsin A mutations: correlation with clinical severity in galactosialidosis.
|
8968752 |
1996 |
|
| 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 |
|
|
|
|
| Entrez Id: |
3984 |
| Gene Symbol: |
LIMK1 |
LIMK1
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
|
| Entrez Id: |
284098 |
| Gene Symbol: |
PIGW |
PIGW
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
|
| Entrez Id: |
1857 |
| Gene Symbol: |
DVL3 |
DVL3
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
|
| Entrez Id: |
2010 |
| Gene Symbol: |
EMD |
EMD
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
|
| Entrez Id: |
51604 |
| Gene Symbol: |
PIGT |
PIGT
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
|
| Entrez Id: |
10324 |
| Gene Symbol: |
KLHL41 |
KLHL41
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|