Disease Term Disease ID Gene Symbol References
Hereditary Multiple Exostoses C0015306 EXT1 10713884, 28445472, 21310272, 26961984, 10679296, 22258776, 16283885, 19810120, 17041877, 24532482, 19839753, 8981950, 18373409, 7550340, 11518722, 9326317, 17301954, 2788404, 11391482, 15586175, 26515642, 9521425, 23439489, 27604308, 9463333, 25541963, 18330718, 26239617, 26690531, 20080592, 10480354, 10639137, 18165274, 11170095, 12490068, 11432960, 10679937, 10441575, 9150727, 1816274, 9620772, 20534475, 12417417, 25468659, 11169766
EXT2 23439489
PTPN11 21533187
SHOX