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Entry | Name | Description | Category | Pathway | Gene |
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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] |
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H02460 | Neurodevelopmental disorder with dysmorphic facies and skeletal anomalies | Neurodevelopmental disorder (NED) with dysmorphic facies and skeletal anomalies is a group of syndromic neurodevelopmental disorders. Some of them have complications in addition to dysmorphic facies and ... | Congenital malformation |
(NEDDFSA) ZMIZ1 [HSA:57178] [KO:K22403] (NEDCFSA) KDM6B [HSA:23135] [KO:K11448] (NEDDFL) BPTF [HSA:2186] [KO:K11728] (NEDMIDF) SPOP [HSA:8405] [KO:K10523] (NEDJED) FBXW11 [HSA:23291] [KO:K03362] (SHAPNS) ASXL2 [HSA:55252] [KO:K11471] (OCNDS) CSNK2A1 [HSA:1457] [KO:K03097] (BURHAS) SIAH1 [HSA:6477] [KO:K04506] (DEGCAGS) ZNF699 [HSA:374879] [KO:K09228] (NEDCDS) HNRNPH1 [HSA:3187] [KO:K12898] (NEDFIH) NAE1 [HSA:8883] [KO:K04532] (NEDDFSB) HNRNPR [HSA:10236] [KO:K13161] (NEDFSS) TRPM3 [HSA:80036] [KO:K04978] (NEDSFF) DPH5 [HSA:51611] [KO:K00586] (MCAND) OTUD5 [HSA:55593] [KO:K12655] |
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