Distal arthrogryposis
| Disease Term | Disease ID | Gene Symbol | References |
|---|---|---|---|
| Distal arthrogryposis syndrome | C0265213 | ACADM | |
| FBN2 | |||
| GLI3 | |||
| MYBPC1 | 22610851 | ||
| MYH3 | |||
| MYH8 | |||
| RYR1 | |||
| TNNI2 | |||
| TPM2 | 23413262 | ||
| USH2A | |||
| FIG4 | |||
| SYNE1 | |||
| MAGEL2 | |||
| KLHL7 | |||
| CCDC47 | |||
| PIEZO2 | |||
| ATAD1 | |||
| CHST14 | |||
| LGI4 | |||
| ARTHROGRYPOSIS, DISTAL, TYPE 1 | C0220662 | MYBPC1 | 20045868 |
| MYH3 | 23401156 | ||
| TNNI2 | 23401156 | ||
| TNNT3 | 19142688, 23401156 | ||
| TPM2 | 23413262, 23401156, 30285720, 17339586, 23378224, 12592607, 11738357, 24692096, 26307083, 23678273, 23689010, 22084935, 24657080, 23886664 | ||
| CNTNAP1 | |||
| NALCN | 25683120 | ||
| ARTHROGRYPOSIS, DISTAL, TYPE 1B | C3280526 | MYBPC1 | 26661508, 22610851, 20045868 |
| Distal arthrogryposis type 5D | C3554415, 329457 | ECEL1 | 23236030, 23261301, 30131190, 23808592, 23829171 |
| Distal arthrogryposis type 1 | 1146 | NALCN | |
| TNNI2 | |||
| TNNT3 | |||
| TPM2 | |||
| MYH3 | |||
| MYBPC1 |