Multiple congenital exostosis

Disease Term Disease ID Gene Symbol Classification References Source
Hereditary Multiple Exostoses C0015306 EXT1 Causal Pathogenic evidence from ClinVar 1816274, 2788404, 7550340, 8981950, 9150727, 9326317, 9463333, 9521425, 9620772, 10441575, 10480354, 10639137, 10679296, 10679937, 10713884, 11169766, 11170095, 11391482, 11432960, 11518722, 12417417, 12490068, 15586175, 16283885, 17041877, 17301954, 18165274, 18330718, 18373409, 19810120, 19839753, 20080592, 20534475, 21310272, 22258776, 23439489, 24532482, 25468659, 25541963, 26239617, 26515642, 26690531, 26961984, 27604308, 28445472 ClinVar
EXT2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 23439489 -
PTPN11 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 21533187 -
SHOX Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -