| Severe early-childhood-onset retinal dystrophy |
364055 |
LRAT
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
RPE65
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
SPATA7
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
| Retinal Dystrophies |
C0854723 |
LRP2
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
MERTK
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
MFRP
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
MYO7A
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
NMNAT1
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
NPHP1
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
NPHP4
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
NR2E3
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
PCARE
|
Causal
Pathogenic evidence from ClinVar
|
20398886 |
ClinVar |
|
PDE6B
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
PNPLA6
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
POC1B
|
Causal
Pathogenic evidence from ClinVar
|
24945461, 25018096, 25044745 |
ClinVar |
|
PROM1
|
Causal
Pathogenic evidence from ClinVar
|
18654668, 19718270, 22025579, 24154662, 25356976, 26103963, 26872967 |
ClinVar |
|
PRPF31
|
Causal
Pathogenic evidence from ClinVar
|
26872967 |
ClinVar |
|
PRPF8
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
PRPH2
|
Causal
Pathogenic evidence from ClinVar
|
24608669 |
ClinVar |
|
PRPS1
|
Causal
Pathogenic evidence from ClinVar
|
28967191 |
ClinVar |
|
RBP3
|
Causal
Pathogenic evidence from ClinVar
|
26872967 |
ClinVar |
|
RDH12
|
Causal
Pathogenic evidence from ClinVar
|
15258582, 18048336 |
ClinVar |
|
RGR
|
Causal
Pathogenic evidence from ClinVar
|
10581022 |
ClinVar |
|
RLBP1
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
RP1
|
Causal
Pathogenic evidence from ClinVar
|
30718709 |
ClinVar |
|
RP2
|
Causal
Pathogenic evidence from ClinVar
|
10053026, 12657579 |
ClinVar |
|
RPE65
|
Causal
Pathogenic evidence from ClinVar
|
9326941, 18599565 |
ClinVar |
|
RPGR
|
Causal
Pathogenic evidence from ClinVar
|
11857109, 26872967 |
ClinVar |
|
RPGRIP1
|
Causal
Pathogenic evidence from ClinVar
|
12920076 |
ClinVar |
|
RS1
|
Causal
Pathogenic evidence from ClinVar
|
26872967 |
ClinVar |
|
TOPORS
|
Causal
Pathogenic evidence from ClinVar
|
26872967 |
ClinVar |
|
TTLL5
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
USH2A
|
Causal
Pathogenic evidence from ClinVar
|
10775529, 17405132, 26872967 |
ClinVar |
|
WDR19
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
ACO2
|
Unknown
Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations
|
- |
- |
|
ALPK1
|
Unknown
Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations
|
30967659 |
- |
|
ANK1
|
Unknown
Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations
|
- |
- |
|
ARL13B
|
Unknown
Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations
|
- |
- |
|
B3GALNT2
|
Unknown
Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations
|
- |
- |
|
B4GAT1
|
Unknown
Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations
|
- |
- |
|
BMP4
|
Unknown
Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations
|
- |
- |
|
CCDC28B
|
Unknown
Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations
|
- |
- |
|
CDKL5
|
Unknown
Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations
|
26872967 |
- |
|
CEP120
|
Unknown
Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations
|
- |
- |
|
CEP41
|
Unknown
Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations
|
- |
- |
|
CLRN1-AS1
|
Unknown
Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations
|
- |
- |
|
COL4A1
|
Unknown
Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations
|
- |
- |
|
COX7B
|
Unknown
Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations
|
- |
- |
| Retinal Dystrophy, Early Onset Severe |
C1858080 |
RPE65
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
SPATA7
|
Causal
Pathogenic evidence from ClinVar
|
21310915 |
ClinVar |
