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Entry Name Description Category Pathway Gene
H00105 Mannose-binding lectin pathway component defects
Lectin complement activation pathway, defect in (LCAPD) 		There is an increasing number of clinical studies indicating that deficiency of the lectin pathway has been associated with an increased risk, severity, and frequency of infections but also autoimmune ... Primary immunodeficiency (LCAPD1) MBL2 [HSA:4153] [KO:K03991]
(LCAPD2) MASP2 [HSA:10747] [KO:K03993]
(LCAPD3) FCN3 [HSA:8547] [KO:K10104]
H00480 X-linked intellectual developmental disorder
X-linked mental retardation 		X-linked intellectual developmental disorder (XLID), formerly known as X-linked mental retardation, is an inherited condition that causes failure to develop cognitive abilities because of mutations in ... Mental and behavioural disorder (XLID1) IQSEC2 [HSA:23096] [KO:K12495]
(XLID3) HCFC1 [HSA:3054] [KO:K14966]
(XLID9) FTSJ1 [HSA:24140] [KO:K14864]
(XLID12) THOC2 [HSA:57187] [KO:K12879]
(XLID19) RPS6KA3 [HSA:6197] [KO:K04373]
(XLID21) IL1RAPL1 [HSA:11141] [KO:K05170]
(XLID29) ARX [HSA:170302] [KO:K09452]
(XLID30) PAK3 [HSA:5063] [KO:K05733]
(XLID41) GDI1 [HSA:2664] [KO:K17255]
(XLID58) TSPAN7 [HSA:7102] [KO:K06571]
(XLID63) ACSL4 [HSA:2182] [KO:K01897]
(XLID72) RAB39B [HSA:116442] [KO:K07925]
(XLID90) DLG3 [HSA:1741] [KO:K21098]
(XLID93) BRWD3 [HSA:254065] [KO:K11798]
(XLID96) SYP [HSA:6855]
(XLID97) ZNF711 [HSA:7552] [KO:K24376]
(XLID98) NEXMIF [HSA:340533] [KO:K25862]
(XLID99) USP9X [HSA:8239] [KO:K11840]
(XLID100) KIF4A [HSA:24137] [KO:K10395]
(XLID101) MID2 [HSA:11043] [KO:K10647]
(XLID103) KLHL15 [HSA:80311] [KO:K10452]
(XLID104) FRMPD4 [HSA:9758] [KO:K23956]
(XLID105) USP27X [HSA:389856] [KO:K11366]
(XLID106) OGT [HSA:8473] [KO:K09667]
(XLID107) STEEP1 [HSA:63932] [KO:K24996]
(XLID108) SLC9A7 [HSA:84679] [KO:K12041]
(XLID109) AFF2 [HSA:2334] [KO:K15194]
(XLID110) FGF13 [HSA:2258] [KO:K22413]
(XLID111) SLITRK2 [HSA:84631] [KO:K25833]
(XLID112) ZMYM3 [HSA:9203] [KO:K24675]
(XLID113) CSTF2 [HSA:1478] [KO:K14407]
H00517 Spondylocostal dysostosis Spondylocostal dysostosis (SCDO) is a group of disorders characterized by vertebral defects along the entire spinal column with rib fusions and deletions. SCD arises from disturbed somite segmentation ... Congenital malformation (SCDO1) DLL3 [HSA:10683] [KO:K06051]
(SCDO2) MESP2 [HSA:145873] [KO:K09076]
(SCDO3) LNFG [HSA:3955] [KO:K05948]
(SCDO4) HES7 [HSA:84667] [KO:K09087]
(SCDO5) TBX6 [HSA:6911] [KO:K10180]
(SCDO6) RIPPLY2 [HSA:134701]
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]
H00768 Autosomal recessive intellectual developmental disorder
Autosomal recessive mental retardation 		Intellectual developmental disorder, formerly known as Mental retardation (MR), is a neurodevelopmental disorder characterized by low intelligence quotient (IQ) and deficits in adaptive behaviors. To date ... Mental and behavioural disorder (MRT1) PRSS12 [HSA:8492] [KO:K09624]
(MRT2) CRBN [HSA:51185] [KO:K11793]
(MRT3) CC2D1A [HSA:54862] [KO:K18260]
(MRT5) NSUN2 [HSA:54888] [KO:K15335]
(MRT6) GRIK2 [HSA:2898] [KO:K05202]
(MRT7) TUSC3 [HSA:7991] [KO:K19478]
(MRT12) ST3GAL3 [HSA:6487] [KO:K00781]
(MRT13) TRAPPC9 [HSA:83696] [KO:K20306]
(MRT14) TECR [HSA:9524] [KO:K10258]
(MRT15) MAN1B1 [HSA:11253] [KO:K23741]
(MRT18) MED23 [HSA:9439] [KO:K15166]
(MRT27) LINS1 [HSA:55180] [KO:K22533]
(MRT34) CRADD [HSA:8738] [KO:K02832]
(MRT36) ADAT3 [HSA:113179] [KO:K15442]
(MRT37) ANK3 [HSA:288] [KO:K09259]
(MRT38) HERC2 [HSA:8924] [KO:K10595]
(MRT39) TTI2 [HSA:80185] [KO:K23115]
(MRT40) TAF2 [HSA:6873] [KO:K03128]
(MRT41) KPTN [HSA:11133] [KO:K23295]
(MRT42) PGAP1 [HSA:80055] [KO:K05294]
(MRT43) WASHC4 [HSA:23325] [KO:K18465]
(MRT44) METTL23 [HSA:124512] [KO:K23151]
(MRT45) FBXO31 [HSA:79791] [KO:K10308]
(MRT46) NDST1 [HSA:3340] [KO:K02576]
(MRT47) FMN2 [HSA:56776] [KO:K02184]
(MRT48) SLC6A17 [HSA:388662] [KO:K05048]
(MRT49) GPT2 [HSA:84706] [KO:K00814]
(MRT50) EDC3 [HSA:80153] [KO:K12615]
(MRT51) HNMT [HSA:3176] [KO:K00546]
(MRT52) LMAN2L [HSA:81562] [KO:K10083]
(MRT53) PIGG [HSA:54872] [KO:K05310]
(MRT54) TNIK [HSA:23043] [KO:K08840]
(MRT55) PUS3 [HSA:83480] [KO:K01855]
(MRT56) ZC3H14 [HSA:79882] [KO:K23038]
(MRT57) MBOAT7 [HSA:79143] [KO:K13516]
(MRT58) ELP2 [HSA:55250] [KO:K11374]
(MRT59) IMPA1 [HSA:3612] [KO:K01092]
(MRT60) TAF13 [HSA:6884] [KO:K03127]
(MRT61) RUSC2 [HSA:9853] [KO:K23291]
(MRT62) PIGC [HSA:5279] [KO:K03859]
(MRT63) CAMK2A [HSA:815] [KO:K04515]
(MRT64) LINGO1 [HSA:84894] [KO:K23533]
(MRT65) KDM5B [HSA:10765] [KO:K11446]
(MRT66) C12orf4 [HSA:57102]
(MRT67) EIF3F [HSA:8665] [KO:K03249]
(MRT68) TRMT1 [HSA:55621] [KO:K00555]
(MRT69) ZBTB11 [HSA:27107] [KO:K10498]
(MRT70) RSRC1 [HSA:51319] [KO:K24594]
(MRT71) ALKBH8 [HSA:91801] [KO:K10770]
(MRT72) METTL5 [HSA:29081] [KO:K24418]
(MRT73) NAA20 [HSA:51126] [KO:K17972]
(MRT74) APC2 [HSA:10297] [KO:K02085]
(MRT75) PIDD1 [HSA:55367] [KO:K10130]
(MRT76) GRIA1 [HSA:2890] [KO:K05197]
(MRT77) CEP104 [HSA:9731] [KO:K16458]
(MRT78) WDR11 [HSA:55717] [KO:K24260]
(MRT79) TPR [HSA:7175] [KO:K09291]
(MRT80) CASP2 [HSA:835] [KO:K02186]
(MRT81) ASCC3 [HSA:10973] [KO:K18663]
(MRT82) NSUN6 [HSA:221078] [KO:K21971]
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]
H01209 Deafness, X-linked Hereditary deafness is divided into syndromic forms (in which hearing loss is associated with a variety of other anomalies) and non-syndromic forms. Non-syndromic forms are responsible for 70% of the cases ... Nervous system disease (DFNX1) PRPS1 [HSA:5631] [KO:K00948]
(DFNX2) POU3F4 [HSA:5456] [KO:K09365]
(DFNX4) SMPX [HSA:23676] [KO:K24209]
(DFNX5) AIFM1 [HSA:9131] [KO:K04727]
(DFNX6) COL4A6 [HSA:1288] [KO:K06237]
(DFNX7) GPRASP2 [HSA:114928] [KO:K26197]
H01282 Spermatogenic failure Spermatogenic failure is reflected in a lower or absent production of spermatozoa and is described by routine semen analysis using terms such as azoospermia, oligozoospermia, teratozoospermia or asthenozoospermia ... Reproductive system disease (SPGF1) SYCP2 [HSA:10388] [KO:K19529]
(SPGF3) SLC26A8 [HSA:116369] [KO:K14705]
(SPGF4) SYCP3 [HSA:50511] [KO:K19528]
(SPGF5) AURKC [HSA:6795] [KO:K11480]
(SPGF6) SPATA16 [HSA:83893] [KO:K26121]
(SPGF7) CATSPER1 [HSA:117144] [KO:K16889]
(SPGF8) NR5A1 [HSA:2516] [KO:K08560]
(SPGF9) DPY19L2 [HSA:283417] [KO:K24553]
(SPGF10) SEPTIN12 [HSA:124404] [KO:K16938]
(SPGF11) KLHL10 [HSA:317719] [KO:K10448]
(SPGF12) NANOS1 [HSA:340719] [KO:K18741]
(SPGF13) TAF4B [HSA:6875] [KO:K03129]
(SPGF14) ZMYND15 [HSA:84225] [KO:K24081]
(SPGF15) SYCE1 [HSA:93426] [KO:K19534]
(SPGF16) SUN5 [HSA:140732] [KO:K21876]
(SPGF17) PLCZ1 [HSA:89869] [KO:K05861]
(SPGF18) DNAH1 [HSA:25981] [KO:K10408]
(SPGF19) CFAP43 [HSA:80217] [KO:K24223]
(SPGF20) CFAP44 [HSA:55779] [KO:K24224]
(SPGF21) BRDT [HSA:676] [KO:K11724]
(SPGF22) MEIOB [HSA:254528] [KO:K22420]
(SPGF23) TEX14 [HSA:56155] [KO:K17540]
(SPGF24) CFAP69 [HSA:79846] [KO:K24227]
(SPGF25) TEX15 [HSA:56154] [KO:K25680]
(SPGF26) TSGA10 [HSA:80705] [KO:K25632]
(SPGF27) AK7 [HSA:122481] [KO:K00939]
(SPGF28) FANCM [HSA:57697] [KO:K10896]
(SPGF29) SPINK2 [HSA:6691] [KO:K23418]
(SPGF30) TDRD9 [HSA:122402] [KO:K18408]
(SPGF31) PMFBP1 [HSA:83449] [KO:K23223]
(SPGF32) SOHLH1 [HSA:402381] [KO:K22495]
(SPGF33) CFAP251 [HSA:144406] [KO:K24228]
(SPGF34) FSIP2 [HSA:401024] [KO:K26675]
(SPGF35) QRICH2 [HSA:84074] [KO:K24298]
(SPGF36) PPP2R3C [HSA:55012] [KO:K11583]
(SPGF37) TTC21A [HSA:199223] [KO:K24178]
(SPGF38) ARMC2 [HSA:84071] [KO:K24123]
(SPGF39) DNAH17 [HSA:8632] [KO:K10408]
(SPGF40) CFAP65 [HSA:255101] [KO:K24226]
(SPGF41) CFAP70 [HSA:118491] [KO:K24932]
(SPGF42) TTC29 [HSA:83894] [KO:K24937]
(SPGF43) SPEF2 [HSA:79925] [KO:K25615]
(SPGF44) CEP112 [HSA:201134] [KO:K16767]
(SPGF45) DNAH2 [HSA:146754] [KO:K10408]
(SPGF46) DNAH8 [HSA:1769] [KO:K10408]
(SPGF47) DZIP1 [HSA:22873] [KO:K16470]
(SPGF48) M1AP [HSA:130951] [KO:K26106]
(SPGF49) CFAP58 [HSA:159686] [KO:K25554]
(SPGF50) XRCC2 [HSA:7516] [KO:K10879]
(SPGF51) CFAP91 [HSA:89876] [KO:K25461]
(SPGF52) C14orf39 [HSA:317761] [KO:K25705]
(SPGF53) ACTL9 [HSA:284382]
(SPGF54) CATIP [HSA:375307] [KO:K25788]
(SPGF55) SPAG17 [HSA:200162] [KO:K25533]
(SPGF56) DNAH10 [HSA:196385] [KO:K10408]
(SPGF57) PNLDC1 [HSA:154197] [KO:K01148]
(SPGF58) IFT74 [HSA:80173] [KO:K19679]
(SPGF59) TERB2 [HSA:145645] [KO:K25750]
(SPGF60) TERB1 [HSA:283847] [KO:K25749]
(SPGF61) STAG3 [HSA:10734] [KO:K13055]
(SPGF62) RNF212 [HSA:285498] [KO:K25662]
(SPGF63) RPL10L [HSA:140801] [KO:K02866]
(SPGF64) FBXO43 [HSA:286151] [KO:K10318]
(SPGF65) DNHD1 [HSA:144132] [KO:K26555]
(SPGF66) ZPBP [HSA:11055] [KO:K25752]
(SPGF67) CCDC62 [HSA:84660] [KO:K26436]
(SPGF68) C2CD6 [HSA:151254] [KO:K25947]
(SPGF69) GGN [HSA:199720] [KO:K26807]
(SPGF70) PDHA2 [HSA:5161] [KO:K00161]
(SPGF71) ZSWIM7 [HSA:125150] [KO:K25770]
(SPGF72) WDR19 [HSA:57728] [KO:K19671]
(SPGF73) MOV10L1 [HSA:54456] [KO:K13983]
(SPGF74) MSH5 [HSA:4439] [KO:K08741]
(SPGF75) SHOC1 [HSA:158401]
(SPGF76) CCDC34 [HSA:91057] [KO:K16753]
(SPGF77) FKBP6 [HSA:8468] [KO:K09572]
(SPGF78) IQCN [HSA:80726] [KO:K26737]
(SPGF79) KCNU1 [HSA:157855] [KO:K05274]
(SPGF80) DRC1 [HSA:92749] [KO:K19754]
(SPGF81) TEKT3 [HSA:64518] [KO:K18630]
(SPGF82) AKAP3 [HSA:10566] [KO:K16520]
(SPGF83) DNALI1 [HSA:7802] [KO:K10410]
(SPGF84) CFAP61 [HSA:26074] [KO:K25460]
(SPGF85) SPACA1 [HSA:81833] [KO:K25513]
(SPGF86) ACTL7A [HSA:10881]
(SPGF87) ACR [HSA:49] [KO:K01317]
(SPGF88) KASH5 [HSA:147872] [KO:K22595]
(SPGF89) AK9 [HSA:221264] [KO:K18533]
(SPGF90) ARMC12 [HSA:221481] [KO:K24168]
(SPGF91) CCIN [HSA:881] [KO:K24809]
(SPGFX2) TEX11 [HSA:56159] [KO:K24574]
(SPGFX3) CFAP47 [HSA:286464] [KO:K25552]
(SPGFX4) GCNA [HSA:93953] [KO:K26957]
(SPGFX5) SSX1 [HSA:6756] [KO:K15624]
(SPGFX6) USP26 [HSA:83844] [KO:K11850]
(SPGFX7) CT55 [HSA:54967] [KO:K25478]
H01601 Anaplastic large-cell lymphoma ... features are more variable. A subset of ALK-negative ALCLs has rearrangements at 6p25.3 involving DUSP22, a gene encoding a dual-specificity phosphatase that inhibits T-cell receptor signaling. DUSP22 ... Cancer NPM-ALK (translocation) [HSA:238] [KO:K05119]
DUSP22-IRF4 (translocation) [HSA:56940] [KO:K14165]
H01817 Beukes hip dysplasia
Beukes type hip dysplasia 		... not significantly reduced. The condition is unique in that the underlying dysplasia and subsequent osteoarthritis are confined to the hip joint. Identification of a mutation in UFSP2 has been reported. Congenital malformation UFSP2 [HSA:55325] [KO:K01376]
H01892 Peripheral T cell lymphoma ... clarifying the molecular pathogenesis of PTCLs. ALK gene translocation and dual specificity phosphatase 22 (DUSP22) gene translocation are seen in ALK-positive ALCL and ALK-negative ALCL, respectively. Recently ... Cancer NPM-ALK (translocation) [HSA:238] [KO:K05119]
DUSP22-IRF4 (translocation) [HSA:56940] [KO:K14165]
TET2 (mutation) [HSA:54790] [KO:K24309]
DNMT3A (mutation) [HSA:1788] [KO:K17398]
IDH1 (mutation) [HSA:3417] [KO:K00031]
IDH2 (mutation) [HSA:3418] [KO:K00031]
H02175 Hypospadias Hypospadias (HYSP) is defined as a defect in the development of the ventral aspect of the penis along with an ectopic opening of the urethral meatus. It is thought to be due to a combination of genetic ... Congenital malformation (HYSP1) AR [HSA:367] [KO:K08557]
(HYSP2) MAMLD1 [HSA:10046] [KO:K19512]
H02187 Spondyloepimetaphyseal dysplasia Spondyloepimetaphyseal dysplasia (SEMD) is a heterogeneous group of skeletal dysplasias (dwarfing disorders) characterized by abnormal epiphyses, with varying degrees of metaphyseal irregularities, flattened ... Congenital malformation (SEMDSTWK) COL2A1 [HSA:1280] [KO:K19719]
(SEMDSH) DDRGK1 [HSA:65992] [KO:K23344]
(SEMDFA) RSPRY1 [HSA:89970] [KO:K23332]
(SEMDDR) UFSP2 [HSA:55325] [KO:K01376]
(SEMDIST) RPL13 [HSA:6137] [KO:K02873]
(SEMDIK) SIK3 [HSA:23387] [KO:K19009]
(SEMDAG) ACAN [HSA:176] [KO:K06792]
(SEMDG) NANS [HSA:54187] [KO:K05304]
(SEMDSP) TONSL [HSA:4796] [KO:K09257]
(SEMDX) BGN [HSA:633] [KO:K08118]
(SEMDM) MMP13 [HSA:4322] [KO:K07994]
(SEMDHL) AIFM1 [HSA:9131] [KO:K04727]
(SEMDGC) ERI1 [HSA:90459] [KO:K18416]
H02564 Generalized epilepsy with febrile seizures plus Generalized epilepsy with febrile seizures plus (GEFSP) is a familial epilepsy syndrome with a spectrum of phenotypes. Mutations in the voltage-gated cation channel subunit genes and the GABA(A) receptor ... Nervous system disease (GEFSP1) SCN1B [HSA:6324] [KO:K04845]
(GEFSP2) SCN1A [HSA:6323] [KO:K04833]
(GEFSP3) GABRG2 [HSA:2566] [KO:K05186]
(GEFSP5) GABRD [HSA:2563] [KO:K05184]
(GEFSP9) STX1B [HSA:112755] [KO:K08486]
(GEFSP10) HCN1 [HSA:348980] [KO:K04954]
(GEFSP11) HCN2 [HSA:610] [KO:K04955]
(GEFSP12) SLC32A1 [HSA:140679] [KO:K15015]
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