Ectopia lentis
| Disease Term | Disease ID | Gene Symbol | References |
|---|---|---|---|
| Ectopia Lentis | C0013581 | ASPH | |
| CBS | |||
| COL1A1 | |||
| COL2A1 | |||
| COL5A1 | |||
| COL5A2 | |||
| COL11A1 | |||
| FBN1 | 22772368 | ||
| FBN2 | |||
| FOXE3 | |||
| HSPG2 | |||
| LTBP2 | |||
| MOCS2 | |||
| NDP | |||
| SUOX | |||
| TAP1 | |||
| TAP2 | |||
| TAPBP | |||
| AASS | |||
| EXOC6B | |||
| CPAMD8 | |||
| ADAMTSL4 | 21051722, 20702823, 28642162, 20564469 | ||
| BCOR | |||
| PORCN | |||
| COL18A1 | |||
| ADAMTS10 | |||
| B3GALT6 | |||
| ADAMTS17 | |||
| ADAMTSL4-AS2 | 28642162, 21051722, 20702823, 20564469 | ||
| ECTOPIA LENTIS 1, ISOLATED, AUTOSOMAL DOMINANT | C3541518 | FBN1 | 1301946, 8188302, 11826022, 11700157, 8406497, 12203992, 20082464, 7762551, 17657824 |
| ECTOPIA LENTIS 2, ISOLATED, AUTOSOMAL RECESSIVE | C3541474 | ADAMTSL4 | 22871183, 22736615, 25975359, 20702823, 21051722, 20564469 |
| ADAMTSL4-AS2 | 21051722, 25975359, 20564469, 22871183, 20702823, 22736615 | ||
| Ectopia Lentis with Ectopia of Pupil | C1644196 | ADAMTSL4 | 20702823 |
| ADAMTSL4-AS2 | |||
| Ectopia Lentis, Spontaneous Filtering Blebs, and Craniofacial Dysmorphism | C1832167 | ASPH | 24768550 |
| Familial ectopia lentis | C2746069 | FBN1 | |
| ADAMTSL4 |