| Exudative vitreoretinopathy |
C4072980 |
CTNNB1
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
FZD4
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
LRP5
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
NDP
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
TSPAN12
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
ZNF408
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
| Exudative vitreoretinopathy 1 |
C1851402 |
CTNNB1
|
Causal
Pathogenic evidence from ClinVar
|
28575650 |
ClinVar |
|
FZD4
|
Causal
Pathogenic evidence from ClinVar
|
12172548, 14507768, 15035989, 15223780, 15370539, 15488808, 15733276, 15981244, 17093393, 17955262, 19172507, 19324841, 20340138, 28413837 |
ClinVar |
|
LRP5
|
Causal
Pathogenic evidence from ClinVar
|
27228167 |
ClinVar |
|
TSPAN12
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
ZNF408
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
PRSS23
|
Unknown
Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations
|
- |
- |
| EXUDATIVE VITREORETINOPATHY 7 |
C4539767 |
CTNNB1
|
Causal
Pathogenic evidence from ClinVar
|
28514307, 28575650 |
ClinVar |
| Familial exudative vitreoretinopathy |
891 |
CTNNB1
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
FZD4
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
LRP5
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
NDP
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
TSPAN12
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
ZNF408
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
| Familial Exudative Vitreoretinopathy |
C0339539 |
CTNNB1
|
Causal
Pathogenic evidence from ClinVar
|
28575650 |
ClinVar |
|
FZD4
|
Causal
Pathogenic evidence from ClinVar
|
14507768, 15035989, 20340138, 20938005, 24744206, 25711638, 27316669 |
ClinVar |
|
LRP5
|
Causal
Pathogenic evidence from ClinVar
|
15024691, 25711638, 29207047 |
ClinVar |
|
TSPAN12
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
ZNF408
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
ABCA4
|
Unknown
Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations
|
29207047 |
- |
|
PRSS23
|
Unknown
Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations
|
14507768, 15035989, 20340138, 20938005, 24744206, 25711638, 27316669 |
- |
|
RCBTB1
|
Unknown
Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations
|
27486781 |
- |
| EXUDATIVE VITREORETINOPATHY 4 (disorder) |
C1866176 |
LRP5
|
Causal
Pathogenic evidence from ClinVar
|
11719191, 15024691, 15346351, 15981244, 16252235, 16929062, 19324841, 20340138, 24715757, 29131652 |
ClinVar |
| Exudative Vitreoretinopathy, Familial, X-Linked Recessive |
C1844579 |
NDP
|
Causal
Pathogenic evidence from ClinVar
|
8252044, 8946107, 9143917, 16163268, 16970763, 17296899, 17325173, 29617172 |
ClinVar |
| Exudative Vitreoretinopathy 5 |
C2750079 |
TSPAN12
|
Causal
Pathogenic evidence from ClinVar
|
20159111, 20159112, 22427576 |
ClinVar |
| EXUDATIVE VITREORETINOPATHY 6 |
C4225316 |
ZNF408
|
Causal
Pathogenic evidence from ClinVar
|
23716654 |
ClinVar |
| EXUDATIVE VITREORETINOPATHY 3 |
C1854002 |
EVR3
|
Unknown
Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations
|
11179025 |
- |
