Search Result

 Top
1 to 1 of 1
Entry Name Description Category Pathway Gene
H00506 Osteogenesis imperfecta Osteogenesis imperfecta (OI) is characterized by an inherited bone fragility mainly caused by mutations in type I collagen. Poor teeth development, blue sclerae and hearing impairment also manifest in ... Congenital malformation (OI1/2/3/4) COL1A1 [HSA:1277] [KO:K06236]
(OI2/3/4) COL1A2 [HSA:1278] [KO:K06236]
(OI5) IFITM5 [HSA:387733] [KO:K06566]
(OI6) SERPINF1 [HSA:5176] [KO:K19614]
(OI7) CRTAP [HSA:10491] [KO:K19606]
(OI8) P3H1 [HSA:64175] [KO:K08134]
(OI9) PPIB [HSA:5479] [KO:K03768]
(OI10) SERPINH1 [HSA:871] [KO:K09501]
(OI11) FKBP10 [HSA:60681] [KO:K09575]
(OI12) SP7 [HSA:121340] [KO:K09197]
(OI13) BMP1 [HSA:649] [KO:K05502]
(OI14) TMEM38B [HSA:55151] [KO:K24013]
(OI15) WNT1 [HSA:7471] [KO:K03209]
(OI16) CREB3L1 [HSA:90993] [KO:K09048]
(OI17) SPARC [HSA:6678] [KO:K24262]
(OI18) TENT5A [HSA:55603] [KO:K23033]
(OI19) MBTPS2 [HSA:51360] [KO:K07765]
(OI20) MESD [HSA:23184] [KO:K25366]
(OI21) KDELR2 [HSA:11014] [KO:K10949]
(OI22) CCDC134 [HSA:79879] [KO:K25417]
(OI23) PHLDB1 [HSA:23187] [KO:K23794]
1 to 1 of 1
[ KEGG | DISEASE | DRUG | MEDICUS ]