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Entry Name Description Category Pathway Gene
H01202 Cataract Cataracts can be defined as any opacity of the crystalline lens, often associated with breakdown of the lens microarchitecture, possibly including vacuole formation and disarray of lens cells, which can ... Nervous system disease (CTRCT1) GJA8 [HSA:2703] [KO:K07617]
(CTRCT2) CRYGC [HSA:1420] [KO:K23483]
(CTRCT3) CRYBB2 [HSA:1415] [KO:K23482]
(CTRCT4) CRYGD [HSA:1421] [KO:K23483]
(CTRCT5) HSF4 [HSA:3299] [KO:K09417]
(CTRCT6) EPHA2 [HSA:1969] [KO:K05103]
(CTRCT9) CRYAA [HSA:1409] [KO:K09541]
(CTRCT10) CRYBA1 [HSA:1411] [KO:K23482]
(CTRCT11) PITX3 [HSA:5309] [KO:K09357]
(CTRCT12) BFSP2 [HSA:8419] [KO:K10379]
(CTRCT13) GCNT2 [HSA:2651] [KO:K00742]
(CTRCT14) GJA3 [HSA:2700] [KO:K07612]
(CTRCT15) MIP [HSA:4284] [KO:K09863]
(CTRCT16) CRYAB [HSA:1410] [KO:K09542]
(CTRCT17) CRYBB1 [HSA:1414] [KO:K23482]
(CTRCT18) FYCO1 [HSA:79443] [KO:K21954]
(CTRCT19) LIM2 [HSA:3982] [KO:K24190]
(CTRCT20) CRYGS [HSA:1427] [KO:K23483]
(CTRCT21) MAF [HSA:4094] [KO:K09035]
(CTRCT22) CRYBB3 [HSA:1417] [KO:K23482]
(CTRCT23) CRYBA4 [HSA:1413] [KO:K23482]
(CTRCT30) VIM [HSA:7431] [KO:K07606]
(CTRCT31) CHMP4B [HSA:128866] [KO:K12194]
(CTRCT33) BFSP1 [HSA:631] [KO:K10378]
(CTRCT34) FOXE3 [HSA:2301] [KO:K09398]
(CTRCT36) TDRD7 [HSA:23424] [KO:K18405]
(CTRCT38) AGK [HSA:55750] [KO:K09881]
(CTRCT39) CRYGB [HSA:1419] [KO:K23483]
(CTRCT40) NHS [HSA:4810] [KO:K24144]
(CTRCT41) WFS1 [HSA:7466] [KO:K14020]
(CTRCT42) CRYBA2 [HSA:1412] [KO:K23482]
(CTRCT43) UNC45B [HSA:146862] [KO:K21991]
(CTRCT44) LSS [HSA:4047] [KO:K01852]
(CTRCT45) SIPA1L3 [HSA:23094] [KO:K17703]
(CTRCT46) LEMD2 [HSA:221496] [KO:K24080]
(CTRCT47) SLC16A12 [HSA:387700] [KO:K11810]
(CTRCT48) DNMBP [HSA:23268] [KO:K20705]
(CTRCT49) PANK4 [HSA:55229] [KO:K24265]
(CTRCT50) TRPM3 [HSA:80036] [KO:K04978]
H01248 Monocarboxylate transporter 1 deficiency Erythrocyte lactate transporter defect is a rare condition characterized by severe chest pain and muscle cramping on vigorous exercise. Patients were found to have missense mutations in monocarboxylate ... Inherited metabolic disorder SLC16A1 [HSA:6566] [KO:K08179]
H01267 Familial hyperinsulinemic hypoglycemia ... Seven different loci have been associated with hyperinsulinism: ABCC8, KCNJ11, HADHSC, GCK, GLUD1, SLC16A1, and INSR. Mutations of these loci have significant differences in phenotype and inheritance ... Inherited metabolic disorder (HHF1/ LIH) ABCC8 [HSA:6833] [KO:K05032]
(HHF2) KCNJ11 [HSA:3767] [KO:K05004]
(HHF3) GCK [HSA:2645] [KO:K12407]
(HHF4) HADH [HSA:3033] [KO:K00022]
(HHF5) INSR [HSA:3643] [KO:K04527]
(HHF6) GLUD1 [HSA:2746] [KO:K00261]
(HHF7) SLC16A1 [HSA:6566] [KO:K08179]
(HHF8) SLC25A36 [HSA:55186] [KO:K15116]
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