| Cone rod dystrophy |
1872 |
PROM1
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
PRPH2
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
RAB28
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
RAX2
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
RIMS1
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
RPGR
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
RPGRIP1
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
TTLL5
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
ATF6
|
Unknown
Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations
|
- |
- |
|
CACNA2D4
|
Unknown
Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations
|
- |
- |
|
CFAP410
|
Unknown
Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations
|
- |
- |
|
GUCA1A
|
Unknown
Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations
|
- |
- |
| Cone-Rod Dystrophies |
C4085590 |
PROM1
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
PRPH2
|
Causal
Pathogenic evidence from ClinVar
|
14557183, 15779916, 22183351 |
ClinVar |
|
RAB28
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
RAX2
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
RDH12
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
RHO
|
Causal
Pathogenic evidence from ClinVar
|
30718709 |
ClinVar |
|
RIMS1
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
RPGR
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
RPGRIP1
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
TTLL5
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
USH2A
|
Causal
Pathogenic evidence from ClinVar
|
30718709 |
ClinVar |
|
ATXN7
|
Unknown
Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations
|
- |
- |
|
CACNA2D4
|
Unknown
Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations
|
- |
- |
|
CNNM4
|
Unknown
Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations
|
- |
- |
|
GUCA1A
|
Unknown
Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations
|
- |
- |
|
KCNV2
|
Unknown
Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations
|
- |
- |
|
LZTFL1
|
Unknown
Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations
|
- |
- |
| CONE-ROD DYSTROPHY 12 (disorder) |
C2675210 |
PROM1
|
Causal
Pathogenic evidence from ClinVar
|
10205271, 18654668, 19718270 |
ClinVar |
| Cone-Rod Dystrophy 2 |
C3489532 |
PROM1
|
Causal
Pathogenic evidence from ClinVar
|
19718270, 26153215 |
ClinVar |
|
PRPH2
|
Causal
Pathogenic evidence from ClinVar
|
9279751, 23563732 |
ClinVar |
|
RAB28
|
Causal
Pathogenic evidence from ClinVar
|
23746546 |
ClinVar |
|
RAX2
|
Causal
Pathogenic evidence from ClinVar
|
15028672, 25789692 |
ClinVar |
|
RIMS1
|
Causal
Pathogenic evidence from ClinVar
|
12659814 |
ClinVar |
|
RPGR
|
Causal
Pathogenic evidence from ClinVar
|
11857109, 23776498 |
ClinVar |
|
RPGRIP1
|
Causal
Pathogenic evidence from ClinVar
|
12920076, 26992781 |
ClinVar |
|
TTLL5
|
Causal
Pathogenic evidence from ClinVar
|
24791901 |
ClinVar |
|
ATF6
|
Unknown
Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations
|
28479318 |
- |
|
CACNA2D4
|
Unknown
Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations
|
17033974 |
- |
|
CFAP410
|
Unknown
Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations
|
23105016 |
- |
|
GUCA1A
|
Unknown
Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations
|
23428504, 26992781 |
- |
| CONE-ROD DYSTROPHY 18 |
C3809299 |
RAB28
|
Causal
Pathogenic evidence from ClinVar
|
23746546, 25356532, 27930654, 28388261 |
ClinVar |
| Cone-Rod Dystrophy 11 |
C1835865 |
RAX2
|
Causal
Pathogenic evidence from ClinVar
|
15028672 |
ClinVar |
| Cone-Rod Dystrophy 7 |
C1863634 |
RIMS1
|
Causal
Pathogenic evidence from ClinVar
|
12659814, 28677725 |
ClinVar |
| CONE-ROD DYSTROPHY, X-LINKED, 1 |
C1844776 |
RPGR
|
Causal
Pathogenic evidence from ClinVar
|
9855162 |
ClinVar |
| Cone-Rod Dystrophy 13 |
C2750720 |
RPGRIP1
|
Causal
Pathogenic evidence from ClinVar
|
10958648, 11528500, 12920076, 20079931, 23105016, 26667666 |
ClinVar |
| CONE-ROD DYSTROPHY 19 |
C4014501 |
TTLL5
|
Causal
Pathogenic evidence from ClinVar
|
24791901, 28173158 |
ClinVar |
| CONE-ROD DYSTROPHY 16 |
C3281045 |
CFAP418-AS1
|
Unknown
Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations
|
- |
- |
| Cone rod dystrophy amelogenesis imperfecta |
C2931074 |
CNNM4
|
Unknown
Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations
|
19200525, 24194943 |
- |
