Disease Term Disease ID Gene Symbol Classification References Source
EXOSTOSES, MULTIPLE, TYPE II C1851413 EXT2 Causal Pathogenic evidence from ClinVar 7726168, 8782816, 8894688, 9326317, 9463333, 10429361, 10480354, 10713884, 10738008, 10750558, 11169766, 11170095, 11432960, 11518722, 11668521, 12417417, 16236767, 16283885, 17589361, 19344451, 19810120, 20425833, 21310272, 21520333, 23262345, 23439489, 23629877, 24496678, 24628984, 25230886, 25468659, 25591329, 25744876, 26961984, 27604308, 28849184, 29529714 ClinVar