Jackson-weiss syndrome
| Disease Term | Disease ID | Gene Symbol | Classification | References | Source |
|---|---|---|---|---|---|
| JACKSON-WEISS SYNDROME | C0795998 | FGFR1 | Causal Pathogenic evidence from ClinVar | 10861678, 12627230, 25759380 | ClinVar |
| FGFR2 | Causal Pathogenic evidence from ClinVar | 7655462, 7874170, 7987400, 7989400, 8528214, 8644708, 8650126, 8696350, 8755573, 9385368, 9677057, 10874645, 11173845, 11781872, 12884424, 15316116, 16418739, 17693524, 20133659, 21438135, 22387015, 22558232, 23348274, 24127277, 25271085, 25361936, 27028366, 27604308, 28425981 | ClinVar | ||
| Jackson-Weiss syndrome | 1540 | FGFR2 | Causal Pathogenic evidence from ClinVar | - | ClinVar |