| Cataract |
C0086543 |
BCOR
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
BFSP2
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
COL4A1
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
CRYAA
|
Causal
Pathogenic evidence from ClinVar
|
9467006 |
ClinVar |
|
CRYAB
|
Causal
Pathogenic evidence from ClinVar
|
11577372 |
ClinVar |
| CATARACT 33, MULTIPLE TYPES |
C3808107 |
BFSP1
|
Causal
Pathogenic evidence from ClinVar
|
17225135, 24379646, 28450710 |
ClinVar |
| CATARACT, MARNER TYPE |
C1861821 |
BFSP1
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
| Cortical, lamellar, or zonular nonsenile cataract |
C0154974 |
BFSP1
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
| Early-onset nuclear cataract |
98991 |
BFSP1
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
CRYAA
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
CRYAB
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
CRYBA1
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
| Embryonal nuclear cataract (disorder) |
C0158551 |
BFSP1
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
CHMP4B
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
| Nuclear cataract |
C0392557 |
BFSP1
|
Causal
Pathogenic evidence from ClinVar
|
24379646 |
ClinVar |
|
CHMP4B
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
CRYAA
|
Causal
Pathogenic evidence from ClinVar
|
19390652, 24074001, 24384146 |
ClinVar |
|
CRYAB
|
Causal
Pathogenic evidence from ClinVar
|
19597569, 24384146, 26622071 |
ClinVar |
|
CRYBA1
|
Causal
Pathogenic evidence from ClinVar
|
21686330, 24384146 |
ClinVar |
| Nuclear non-senile cataract |
C1112705 |
BFSP1
|
Causal
Pathogenic evidence from ClinVar
|
24379646 |
ClinVar |
|
CHMP4B
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
CRYAA
|
Causal
Pathogenic evidence from ClinVar
|
19390652, 24074001, 24384146 |
ClinVar |
|
CRYAB
|
Causal
Pathogenic evidence from ClinVar
|
19597569, 24384146, 26622071 |
ClinVar |
| CATARACT 12, MULTIPLE TYPES |
C3808115 |
BFSP2
|
Causal
Pathogenic evidence from ClinVar
|
10729115, 10739768, 15570218 |
ClinVar |
| Cataract, Autosomal Dominant, Multiple Types 1 |
C1969032 |
BFSP2
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
| Cataract, Central Saccular, With Sutural Opacities |
C1854021 |
BFSP2
|
Causal
Pathogenic evidence from ClinVar
|
17200662 |
ClinVar |
|
CRYBA1
|
Causal
Pathogenic evidence from ClinVar
|
9788845 |
ClinVar |
| CATARACT, COPPOCK-LIKE |
C1852438 |
BFSP2
|
Causal
Pathogenic evidence from ClinVar
|
24654948 |
ClinVar |
| Cataract, Pulverulent |
C1833118 |
BFSP2
|
Causal
Pathogenic evidence from ClinVar
|
24654948 |
ClinVar |
| Early-onset lamellar cataract |
441452 |
BFSP2
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
CRYAA
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
CRYAB
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
CRYBA1
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
| Early-onset sutural cataract |
98985 |
BFSP2
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
CRYBA1
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
| Progressive cataract |
C4021566 |
BFSP2
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
| Cataract, posterior polar, 3 |
C1854311 |
CHMP4B
|
Causal
Pathogenic evidence from ClinVar
|
17701905 |
ClinVar |
| Early-onset posterior polar cataract |
98993 |
CHMP4B
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
CRYAB
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
CRYBA1
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
| Early-onset posterior subcapsular cataract |
441447 |
CHMP4B
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
| Cataract microcornea syndrome |
C1861829 |
CRYAA
|
Causal
Pathogenic evidence from ClinVar
|
17724170, 21612679, 21686328 |
ClinVar |
| CATARACT, ANTERIOR POLAR |
C1855179 |
CRYAA
|
Causal
Pathogenic evidence from ClinVar
|
22065922 |
ClinVar |
| CATARACT, AUTOSOMAL DOMINANT |
C1858679 |
CRYAA
|
Causal
Pathogenic evidence from ClinVar
|
9467006, 10684623, 11123904, 14512969, 16453125, 16735993, 17296897, 17724170, 18085469, 18302245, 18407550, 19182255, 19503744, 20079887, 22045060, 22140512, 22216983, 22347476, 23508780 |
ClinVar |
| Cataract, Autosomal Recessive Congenital 1 |
C3888098 |
CRYAA
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
| Early-onset anterior polar cataract |
98988 |
CRYAA
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
| Pseudoaphakia |
C0524524 |
CRYAA
|
Causal
Pathogenic evidence from ClinVar
|
9467006 |
ClinVar |
|
CRYAB
|
Causal
Pathogenic evidence from ClinVar
|
11577372 |
ClinVar |
| Total early-onset cataract |
98994 |
CRYAA
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
| CATARACT 16, MULTIPLE TYPES |
C3808377 |
CRYAB
|
Causal
Pathogenic evidence from ClinVar
|
11577372, 21337604 |
ClinVar |
