Axenfeld anomaly
| Disease Term | Disease ID | Gene Symbol | References |
|---|---|---|---|
| Axenfeld anomaly (disorder) | C0266548 | JAG1 | |
| COL4A1 | 17938367, 20385946, 17696175 | ||
| FOXC1 | 11170889, 9620769 | ||
| PITX2 | 24433355, 19513095 | ||
| Axenfeld syndrome | C1280768 | COL4A1 | 20385946, 17696175 |
| AXENFELD-RIEGER SYNDROME, TYPE 3 | C2678503 | COL4A1 | 20385946, 17696175 |
| FOXC1 | 11179011, 11740218, 24914578, 11170889, 9792859, 25786029, 14506133, 15277473, 16936096, 20881294, 12592227, 17210863, 18498376, 28513611, 15477465, 17653043, 12454026, 19279310, 28979898, 11782474, 16449236, 27804176, 11589884, 23686687, 23239455, 19793056, 14578375, 12614756 | ||
| Axenfeld-Rieger syndrome | C3495488, 782 | COL4A1 | 20385946, 17696175 |
| FOXC1 | 19513095 | ||
| PITX2 | 19513095 | ||
| Axenfeld-Rieger Syndrome, Type 1 | C3714873 | COL4A1 | 20385946, 17696175 |
| FOXC1 | 14630904 | ||
| PAX6 | 14630904 | ||
| PITX2 | 15378534, 10937553, 10502778, 11487566, 8944018, 12381896, 14630904, 10644443, 14623826, 16936096 | ||
| Rieger eye malformation sequence | C3495489 | CTBP1 | |
| FOXC1 | |||
| IGF1R | |||
| LETM1 | |||
| PIK3R1 | |||
| PITX2 | |||
| WHCR | |||
| NSD2 | |||
| CPLX1 | |||
| FGFRL1 | |||
| ADAMTSL1 |