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Entry Name Description Category Pathway Gene
H00606 Early infantile epileptic encephalopathy
Developmental and epileptic encephalopathy
Ohtahara syndrome 		Early infantile epileptic encephalopathy (EIEE), also known as developmental and epileptic encephalopathy (DEE), is characterized by frequent tonic spasms of early onset within a few months of life, and ... Nervous system disease (DEE1) ARX [HSA:170302] [KO:K09452]
(DEE2) CDKL5 [HSA:6792] [KO:K08824]
(DEE3) SLC25A22 [HSA:79751] [KO:K15107]
(DEE4) STXBP1 [HSA:6812] [KO:K15292]
(DEE5) SPTAN1 [HSA:6709] [KO:K06114]
(DEE6B) SCN1A [HSA:6323] [KO:K04833]
(DEE7) KCNQ2 [HSA:3785] [KO:K04927]
(DEE8) ARHGEF9 [HSA:23229] [KO:K20686]
(DEE9) PCDH19 [HSA:57526] [KO:K16499]
(DEE10) PNKP [HSA:11284] [KO:K08073]
(DEE11) SCN2A [HSA:6326] [KO:K04834]
(DEE12) PLCB1 [HSA:23236] [KO:K05858]
(DEE13) SCN8A [HSA:6334] [KO:K04840]
(DEE14) KCNT1 [HSA:57582] [KO:K04946]
(DEE15) ST3GAL3 [HSA:6487] [KO:K00781]
(DEE16) TBC1D24 [HSA:57465] [KO:K21841]
(DEE17) GNAO1 [HSA:2775] [KO:K04534]
(DEE18) SZT2 [HSA:23334] [KO:K23298]
(DEE19) GABRA1 [HSA:2554] [KO:K05175]
(DEE21) NECAP1 [HSA:25977] [KO:K20069]
(DEE22) SLC35A2 [HSA:7355] [KO:K15272]
(DEE23) DOCK7 [HSA:85440] [KO:K21852]
(DEE24) HCN1 [HSA:348980] [KO:K04954]
(DEE25) SLC13A5 [HSA:284111] [KO:K14445]
(DEE26) KCNB1 [HSA:3745] [KO:K04885]
(DEE27) GRIN2B [HSA:2904] [KO:K05210]
(DEE28) WWOX [HSA:51741] [KO:K19329]
(DEE29) AARS [HSA:16] [KO:K01872]
(DEE30) SIK1 [HSA:150094] [KO:K19008]
(DEE31A/31B) DNM1 [HSA:1759] [KO:K01528]
(DEE32) KCNA2 [HSA:3737] [KO:K04875]
(DEE33) EEF1A2 [HSA:1917] [KO:K03231]
(DEE34) SLC12A5 [HSA:57468] [KO:K23967]
(DEE35) ITPA [HSA:3704] [KO:K01519]
(DEE36) ALG13 [HSA:79868] [KO:K07432]
(DEE37) FRRS1L [HSA:23732] [KO:K25381]
(DEE38) ARV1 [HSA:64801] [KO:K21848]
(DEE39) SLC25A12 [HSA:8604] [KO:K15105]
(DEE40) GUF1 [HSA:60558] [KO:K21594]
(DEE41) SLC1A2 [HSA:6506] [KO:K05613]
(DEE42) CACNA1A [HSA:773] [KO:K04344]
(DEE43) GABRB3 [HSA:2562] [KO:K05181]
(DEE44) UBA5 [HSA:79876] [KO:K12164]
(DEE45) GABRB1 [HSA:2560] [KO:K05181]
(DEE46) GRIN2D [HSA:2906] [KO:K05212]
(DEE47) FGF12 [HSA:2257] [KO:K22413]
(DEE48) AP3B2 [HSA:8120] [KO:K12397]
(DEE49) DENND5A [HSA:23258] [KO:K20164]
(DEE50) CAD [HSA:790] [KO:K11540]
(DEE51) MDH2 [HSA:4191] [KO:K00026]
(DEE52) SCN1B [HSA:6324] [KO:K04845]
(DEE53) SYNJ1 [HSA:8867] [KO:K20279]
(DEE54) HNRNPU [HSA:3192] [KO:K12888]
(DEE55) PIGP [HSA:51227] [KO:K03861]
(DEE56) YWHAG [HSA:7532] [KO:K16198]
(DEE57) KCNT2 [HSA:343450] [KO:K04947]
(DEE58) NTRK2 [HSA:4915] [KO:K04360]
(DEE59) GABBR2 [HSA:9568] [KO:K04615]
(DEE60) CNPY3 [HSA:10695] [KO:K22816]
(DEE61) ADAM22 [HSA:53616] [KO:K16068]
(DEE62) SCN3A [HSA:6328] [KO:K04836]
(DEE63) CPLX1 [HSA:10815] [KO:K15294]
(DEE64) RHOBTB2 [HSA:23221] [KO:K07868]
(DEE65) CYFIP2 [HSA:26999] [KO:K05749]
(DEE66) PACS2 [HSA:23241] [KO:K23294]
(DEE67) CUX2 [HSA:23316] [KO:K09313]
(DEE68) TRAK1 [HSA:22906] [KO:K15369]
(DEE69) CACNA1E [HSA:777] [KO:K04852]
(DEE70) PHACTR1 [HSA:221692] [KO:K17594]
(DEE71) GLS [HSA:2744] [KO:K01425]
(DEE72) NEUROD2 [HSA:4761] [KO:K09078]
(DEE73) RNF13 [HSA:11342] [KO:K15692]
(DEE74) GABRG2 [HSA:2566] [KO:K05186]
(DEE75) PARS2 [HSA:25973] [KO:K01881]
(DEE76) ACTL6B [HSA:51412] [KO:K11652]
(DEE77) PIGQ [HSA:9091] [KO:K03860]
(DEE78) GABRA2 [HSA:2555] [KO:K05175]
(DEE79) GABRA5 [HSA:2558] [KO:K05175]
(DEE80) PIGB [HSA:9488] [KO:K05286]
(DEE81) DMXL2 [HSA:23312] [KO:K24155]
(DEE82) GOT2 [HSA:2806] [KO:K14455]
(DEE83) UGP2 [HSA:7360] [KO:K00963]
(DEE84) UGDH [HSA:7358] [KO:K00012]
(DEE85) SMC1A [HSA:8243] [KO:K06636]
(DEE86) DALRD3 [HSA:55152] [KO:K24973]
(DEE87) CDK19 [HSA:23097] [KO:K02208]
(DEE88) MDH1 [HSA:4190] [KO:K00025]
(DEE89) GAD1 [HSA:2571] [KO:K01580]
(DEE90) FGF13 [HSA:2258] [KO:K22413]
(DEE91) PPP3CA [HSA:5530] [KO:K04348]
(DEE92) GABRB2 [HSA:2561] [KO:K05181]
(DEE93) ATP6V1A [HSA:523] [KO:K02145]
(DEE94) CHD2 [HSA:1106] [KO:K20091]
(DEE95) PIGS [HSA:94005] [KO:K05291]
(DEE96) NSF [HSA:4905] [KO:K06027]
(DEE97) CELF2 [HSA:10659] [KO:K13207]
(DEE98) ATP1A2 [HSA:477] [KO:K01539]
(DEE99) ATP1A3 [HSA:478] [KO:K01539]
(DEE100) FBXO28 [HSA:23219] [KO:K10306]
(DEE101) GRIN1 [HSA:2902] [KO:K05208]
(DEE102) SLC38A3 [HSA:10991] [KO:K13576]
(DEE103) KCNC2 [HSA:3747] [KO:K04888]
(DEE104) ATP6V0A1 [HSA:535] [KO:K02154]
(DEE105) HID1 [HSA:283987]
(DEE106) UFSP2 [HSA:55325] [KO:K01376]
(DEE107) NAPB [HSA:63908] [KO:K26120]
(DEE108) MAST3 [HSA:23031] [KO:K08789]
(DEE109) FZR1 [HSA:51343] [KO:K03364]
(DEE110) CACNA2D1 [HSA:781] [KO:K04858]
(DEE111) DEPDC5 [HSA:9681] [KO:K20404]
(DEE112) KCNH5 [HSA:27133] [KO:K04908]
(DEE113) SV2A [HSA:9900] [KO:K06258]
(DEE114) SLC32A1 [HSA:140679] [KO:K15015]
(DEE115) SNF8 [HSA:11267] [KO:K12188]
(DEE116) GLUL [HSA:2752] [KO:K01915]
H00631 Cornelia de Lange syndrome ... hirsutism, and gastrointestinal abnormalities. About 65% of patients harbor mutations in genes that encode subunits or regulators of the cohesin complex, including NIPBL, SMC1A, SMC3, RAD21, and HDAC8. Congenital malformation (CDLS1) NIPBL [HSA:25836] [KO:K06672]
(CDLS2) SMC1A [HSA:8243] [KO:K06636]
(CDLS3) SMC3 [HSA:9126] [KO:K06669]
(CDLS4) RAD21 [HSA:5885] [KO:K06670]
(CDLS5) HDAC8 [HSA:55869] [KO:K11405]
(CDLS6) BRD4 [HSA:23476] [KO:K11722]
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