Disease Term Disease ID Gene Symbol References
Pfeiffer Syndrome C0220658 FGFR1 10942429, 25759380, 24127277, 14564217, 25251565, 7874169, 28825856, 7795583, 27502037, 24497711, 10861678, 16764984, 23812909, 28754744, 12627230, 16957473, 14613973
FGFR2 7719344, 9521581, 8651276, 22664175, 8696350, 8644708, 17694057, 11781872, 9502772, 25867380, 9719378, 22387015, 25759925, 24127277, 28425981, 17803937, 19186770, 9462761, 10394936, 12884424, 9693549, 23495007, 9150725, 16844695, 7795583, 16501574, 9002682, 11390973, 27604308, 24489893, 7719333, 7719345, 10945669, 11173845, 7987400
TWIST1 15923834, 23354436
Pfeiffer syndrome type 3 93260 FGFR2
Pfeiffer syndrome type 2 93259 FGFR2
Pfeiffer syndrome type 1 93258 FGFR1
FGFR2