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Entry | Name | Description | Category | Pathway | Gene |
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H00003 | Acute myeloid leukemia | Acute myeloid leukemia (AML) is a disease that is characterized by uncontrolled proliferation of clonal neoplastic cells and accumulation in the bone marrow of blasts with an impaired differentiation program ... | Cancer | hsa05221 Acute myeloid leukemia |
PML-RARalpha (translocation) [HSA:5371] [KO:K10054] AML1-ETO (translocation) [HSA:861] [KO:K08367] PLZF-RARalpha (translocation) [HSA:7704] [KO:K10055] FLT3 [HSA:2322] [KO:K05092] KIT [HSA:3815] [KO:K05091] NRAS [HSA:4893] [KO:K07828] KRAS [HSA:3845] [KO:K07827] AML1 [HSA:861] [KO:K08367] CEBPA [HSA:1050] [KO:K09055] CBFB [HSA:865] [KO:K25826] CHIC2 [HSA:26511] DNMT3A [HSA:1788] [KO:K17398] ETV6 [HSA:2120] [KO:K03211] GATA2 [HSA:2624] [KO:K17894] JAK2 [HSA:3717] [KO:K04447] LPP [HSA:4026] [KO:K16676] MLLT10 [HSA:8028] [KO:K23588] NPM1 [HSA:4869] [KO:K11276] NUP214 [HSA:8021] [KO:K14317] PICALM [HSA:8301] [KO:K20044] SH3GL1 [HSA:6455] [KO:K11247] TERT [HSA:7015] [KO:K11126] |
H00264 |
Charcot-Marie-Tooth disease Hereditary motor and sensory neuropathy |
Charcot-Marie-Tooth (CMT) disease, also called hereditary motor and sensory neuropathy (HMSN), is a group of disorders characterized by a chronic motor and sensory polyneuropathy. Based on nerve conduction ... | Neurodegenerative disease |
(CMT1A/1E) PMP22 [HSA:5376] [KO:K19289] (CMT1B/2I/2J/4E) MPZ [HSA:4359] [KO:K06770] (CMT1C) LITAF [HSA:9516] [KO:K19363] (CMT1D/4E) EGR2 [HSA:1959] [KO:K12496] (CMT1F/2E/DIG) NEFL [HSA:4747] [KO:K04572] (CMT1G) PMP2 [HSA:5375] [KO:K24977] (CMT1H) FBLN5 [HSA:10516] [KO:K17340] (CMT1I) POLR3B [HSA:55703] [KO:K03021] (CMT1J) ITPR3 [HSA:3710] [KO:K04960] (CMT2A1) KIF1B [HSA:23095] [KO:K10392] (CMT2A2/6) MFN2 [HSA:9927] [KO:K06030] (CMT2B) RAB7A [HSA:7879] [KO:K07897] (CMT2B1) LMNA [HSA:4000] [KO:K12641] (CMT2B2) PNKP [HSA:11284] [KO:K08073] (CMT2C) TRPV4 [HSA:59341] [KO:K04973] (CMT2CC) NEFH [HSA:4744] [KO:K04574] (CMT2D) GARS1 [HSA:2617] [KO:K01880] (CMT2DD) ATP1A1 [HSA:476] [KO:K01539] (CMT2EE) MPV17 [HSA:4358] [KO:K13348] (CMT2F) HSPB1 [HSA:3315] [KO:K04455] (CMT2FF) CADM3 [HSA:57863] [KO:K06780] (CMT2GG) GBF1 [HSA:8729] [KO:K18443] (CMT2HH) JAG1 [HSA:182] [KO:K06052] (CMT2II) SLC12A6 [HSA:9990] [KO:K14427] (CMT2K/4A/RIA) GDAP1 [HSA:54332] [KO:K22077] (CMT2K) JPH1 [HSA:56704] [KO:K19530] (CMT2L) HSPB8 [HSA:26353] [KO:K08879] (CMT2M/DIB) DNM2 [HSA:1785] [KO:K23484] (CMT2N) AARS1 [HSA:16] [KO:K01872] (CMT2O) DYNC1H1 [HSA:1778] [KO:K10413] (CMT2P) LRSAM1 [HSA:90678] [KO:K10641] (CMT2Q) DHTKD1 [HSA:55526] [KO:K15791] (CMT2R) TRIM2 [HSA:23321] [KO:K11997] (CMT2S) IGHMBP2 [HSA:3508] [KO:K19036] (CMT2T) MME [HSA:4311] [KO:K01389] (CMT2U) MARS1 [HSA:4141] [KO:K01874] (CMT2V) NAGLU [HSA:4669] [KO:K01205] (CMT2W) HARS1 [HSA:3035] [KO:K01892] (CMT2X) SPG11 [HSA:80208] [KO:K19026] (CMT2Y) VCP [HSA:7415] [KO:K13525] (CMT2Z) MORC2 [HSA:22880] [KO:K24135] (CMT4B1) MTMR2 [HSA:8898] [KO:K18081] (CMT4B2) SBF2 [HSA:81846] [KO:K18061] (CMT4B3) SBF1 [HSA:6305] [KO:K18061] (CMT4C/MNMN) SH3TC2 [HSA:79628] [KO:K24313] (CMT4D) NDRG1 [HSA:10397] [KO:K18266] (CMT4F) PRX [HSA:57716] [KO:K27395] (CMT4H) FGD4 [HSA:121512] [KO:K05723] (CMT4J) FIG4 [HSA:9896] [KO:K22913] (CMT4K) SURF1 [HSA:6834] [KO:K14998] (CMT6B) SLC25A46 [HSA:91137] [KO:K03454] (CMT6C) PDXK [HSA:8566] [KO:K00868] (CMTX1) GJB1 [HSA:2705] [KO:K07620] (CMTX5) PRPS1 [HSA:5631] [KO:K00948] (CMTX6) PDK3 [HSA:5165] [KO:K00898] (CMTDIC) YARS1 [HSA:8565] [KO:K01866] (CMTDIE) INF2 [HSA:64423] [KO:K23958] (CMTDIF) GNB4 [HSA:59345] [KO:K04538] (CMTRIB) KARS1 [HSA:3735] [KO:K04567] (CMTRIC) PLEKHG5 [HSA:57449] [KO:K19464] (CMTRID) COX6A1 [HSA:1337] [KO:K02266] |
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H00271 | Polymicrogyria | Polymicrogyria (PMG) is a malformation of cortical development characterized by an excessive number of small gyri with abnormal lamination. | Congenital malformation |
(BFPP/BFPR) ADGRG1 [HSA:9289] [KO:K08450] (BTOP) FIG4 [HSA:9896] [KO:K22913] (PMGYCHA) PI4KA [HSA:5297] [KO:K00888] (PMGEDSV) COL3A1 [HSA:1281] [KO:K19720] |
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H00515 | Atelosteogenesis type II | ... neonatally lethal chondrodysplasia, characterized by severely shortened limbs, small chest, scoliosis, clubfoot, abducted thumbs and great toes, and cleft palate. AO2 is an autosomal recessive disorder caused ... | Congenital malformation | DTDST [HSA:1836] [KO:K14701] | |
H00521 | Cleidocranial dysplasia | Cleidocranial dysplasia is an autosomal dominant skeletal dysplasia characterized by hypoplastic clavicles, delayed closure of the cranial sutures, and dental abnormalities resulted from defective intramembranous ... | Congenital malformation |
(CLCD1) RUNX2 [HSA:860] [KO:K09278] (CLCD2) CBFB [HSA:865] [KO:K25826] |
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H00530 | Joubert syndrome and related disorders | Joubert syndrome (JBTS) and related disorders are a group of multiple congenital anomaly syndromes characterized by 'molar tooth sign', a specific midbrain-hindbrain malformation seen in brain images. ... | Congenital malformation |
(JBTS1) INPP5E [HSA:56623] [KO:K20278] (JBTS2) TMEM216 [HSA:51259] [KO:K19385] (JBTS3) AHI1 [HSA:54806] [KO:K16740] (JBTS4) NPHP1 [HSA:4867] [KO:K19657] (JBTS5) CEP290 [HSA:80184] [KO:K16533] (JBTS6) TMEM67 [HSA:91147] [KO:K19348] (JBTS7) RPGRIP1L [HSA:23322] [KO:K16550] (JBTS8) ARL13B [HSA:200894] [KO:K07962] (JBTS9) CC2D2A [HSA:57545] [KO:K19352] (JBTS10) OFD1 [HSA:8481] [KO:K16480] (JBTS11) TTC21B [HSA:79809] [KO:K19673] (JBTS12) KIF7 [HSA:374654] [KO:K18806] (JBTS13) TCTN1 [HSA:79600] [KO:K19382] (JBTS14) TMEM237 [HSA:65062] [KO:K22765] (JBTS15) CEP41 [HSA:95681] [KO:K16455] (JBTS16) TMEM138 [HSA:51524] [KO:K22867] (JBTS17) CPLANE1 [HSA:65250] [KO:K22859] (JBTS18) TCTN3 [HSA:26123] [KO:K19382] (JBTS19) ZNF423 [HSA:23090] [KO:K22870] (JBTS20) TMEM231 [HSA:79583] [KO:K19362] (JBTS21) CSPP1 [HSA:79848] [KO:K16771] (JBTS22) PDE6D [HSA:5147] [KO:K13758] (JBTS23) JBTS23 [HSA:9786] [KO:K22865] (JBTS24) TCTN2 [HSA:79867] [KO:K19361] (JBTS25) CEP104 [HSA:9731] [KO:K16458] (JBTS26) KATNIP [HSA:23247] [KO:K22858] (JBTS27) B9D1 [HSA:27077] [KO:K16744] (JBTS28) MKS1 [HSA:54903] [KO:K19332] (JBTS29) TMEM107 [HSA:84314] [KO:K22764] (JBTS30) ARMC9 [HSA:80210] [KO:K22864] (JBTS31) CEP120 [HSA:153241] [KO:K16459] (JBTS32) SUFU [HSA:51684] [KO:K06229] (JBTS33) PIBF1 [HSA:10464] [KO:K16538] (JBTS34) B9D2 [HSA:80776] [KO:K16745] (JBTS35) ARL3 [HSA:403] [KO:K07944] (JBTS36) FAM149B1 [HSA:317662] [KO:K24653] (JBTS37) TOGARAM1 [HSA:23116] [KO:K24886] (JBTS38) JBTS38 [HSA:9851] [KO:K21765] (JBTS39) TMEM218 [HSA:219854] [KO:K26674] (JBTS40) IFT74 [HSA:80173] [KO:K19679] |
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H00582 |
Benign familial hematuria Thin basement membrane nephropathy |
Benign familial hematuria is an autosomal dominant disorder characterized by recurrent dysmorphic hematuria detected in childhood. The glomerular basement membrane is uniformly thin, but renal function ... | Urinary system disease |
(BFH1) COL4A4 [HSA:1286] [KO:K06237] (BFH2) COL4A3 [HSA:1285] [KO:K06237] |
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H00736 |
Dorfman-Chanarin syndrome Chanarin-Dorfman syndrome |
... hepatomegaly, sensorineural deafness, mental retardation, and cataracts. Mutations in the CGI-58 gene encoding a protein of the alpha/beta hydrolase domain subfamily are responsible for this disorder. | Inherited metabolic disorder | ABHD5 [HSA:51099] [KO:K13699] | |
H00740 | Ichthyosis follicularis, alopecia, and photophobia syndrome | ... involved in endoplasmic reticulum stress response. Recently, it has been reported that mutations in SREBF1, encoding sterol regulatory element binding transcription factor 1, cause autosomal dominant IFAP ... | Congenital malformation |
(IFAP1) MBTPS2 [HSA:51360] [KO:K07765] (IFAP2) SREBF1 [HSA:6720] [KO:K07197] |
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H00806 | Benign familial neonatal seizure | Benign familial neonatal seizure (BFNS) is a benign epilepsy syndromes with autosomal dominant inheritance. They are a group of epilepsies which have a primary genetic background, usually no structural ... | Nervous system disease |
(BFNS1) KCNQ2 [HSA:3785] [KO:K04927] (BFNS2) KCNQ3 [HSA:3786] [KO:K04928] |
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H00903 |
Congenital clubfoot Congenital talipes equinovarus |
Congenital clubfoot is an idiopathic deformity of the lower limb that consists of malalignment of the bones and joints of the foot and ankle. It is defined as a fixation of the foot in a hand-like orientation ... | Congenital malformation | PITX1 [HSA:5307] [KO:K09356] | |
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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H01915 | Borjeson-Forssman-Lehmann syndrome | Borjeson-Forssman-Lehmann syndrome (BFLS) is a rare, X-linked mental retardation syndrome. BFLS is characterized by severe intellectual disability, epilepsy, microcephaly, coarse facial features, long ... | Congenital malformation | PHF6 [HSA:84295] [KO:K23310] | |
H02238 | Spinal muscular atrophy with congenital bone fractures | Spinal muscular atrophy with congenital bone fractures (SMABF) is a rare autosomal recessive disorder. It has been reported that mutations in two genes (TRIP4 and ASCC1) are associated with this disease ... | Musculoskeletal disease |
(SMABF1) TRIP4 [HSA:9325] [KO:K23398] (SMABF2) ASCC1 [HSA:51008] [KO:K18666] |
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H02362 | Benign familial infantile seizure | Benign familial infantile seizure (BFIS) is an autosomal dominant disease characterized by focal seizures, occurring mostly in clusters, and usually first seen between 4 and 8 months of life. Psychomotor ... | Nervous system disease |
(BFIS2) PRRT2 [HSA:112476] [KO:K23897] (BFIS3) SCN2A [HSA:6326] [KO:K04834] (BFIS5) SCN8A [HSA:6334] [KO:K04840] |
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H02378 | Hypotonia, ataxia, and delayed development syndrome | ... disability, speech delay, ataxia, and facial dysmorphism. It has been reported that de novo mutations in EBF3 cause HADDS. EBF3 belongs to the early B cell factor (EBF) family (also known as Olf, COE, or O/E) ... | Congenital malformation | EBF3 [HSA:253738] [KO:K09103] | |
H02387 | Snijders Blok-Fisher syndrome | Snijders Blok-Fisher syndrome (SNIBFIS) is a neurodevelopmental disorder with a broad phenotypic spectrum that includes intellectual disability and/or developmental delay, speech and language problems ... | Mental and behavioural disorder | POU3F3 [HSA:5455] [KO:K09365] | |
H02463 | Syndromic intellectual developmental disorder | Syndromic intellectual developmental disorder (IDD) is a group of disorders characterized by intellectual disability presented together with additional features such as facial dysmorphisms or congenital ... | Mental and behavioural disorder |
(IDDRP) SCAPER [HSA:49855] [KO:K24869] (IDDCA) GNB5 [HSA:10681] [KO:K04539] (IDDCDF) TMEM94 [HSA:9772] [KO:K25291] (IDDFP) BRPF1 [HSA:7862] [KO:K11348] (IDDFSDA) OTUD6B [HSA:51633] [KO:K18342] (IDDGIP) PPM1D [HSA:8493] [KO:K10147] (DILOS) BCL11A [HSA:53335] [KO:K22045] (IDDBCS) PHF21A [HSA:51317] [KO:K24651] (IDDFBA) FBXO11 [HSA:80204] [KO:K10297] (IDDEBF) ALG14 [HSA:199857] [KO:K07441] (IDDHDF) CCNK [HSA:8812] [KO:K23326] (IDDHBA) CDK8 [HSA:1024] [KO:K02208] (IDDMSSD) PAK1 [HSA:5058] [KO:K04409] (IDDNPF) SLC45A1 [HSA:50651] [KO:K15378] (IDDECA) RORA [HSA:6095] [KO:K08532] (IDDSELD) SETD1B [HSA:23067] [KO:K11422] (IDDHISD) TNPO2 [HSA:30000] [KO:K18727] (IDDSSAD) ACTL6B [HSA:51412] [KO:K11652] (IDDFSTA) BCL11B [HSA:64919] [KO:K22046] (FHEIG) KCNK4 [HSA:50801] [KO:K04915] (HIDEA) P4HTM [HSA:54681] [KO:K06711] (IDPOGSA) ABCA2 [HSA:20] [KO:K05642] (IDDHISD) TNPO2 [HSA:30000] [KO:K18727] (IDDPADS) PDE2A [HSA:5138] [KO:K18283] (IDDSAPN) NEMF [HSA:9147] [KO:K24971] (CAGS) ANKRD17 [HSA:26057] [KO:K16726] (MRFACD) MED13L [HSA:23389] [KO:K15164] (IDDMDS) LGI3 [HSA:203190] [KO:K19999] (IDDOF) MTSS2 [HSA:92154] [KO:K20128] (IDDPN) NUDT2 [HSA:318] [KO:K01518] |
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H02494 | Alkuraya-Kucinskas syndrome | Alkuraya-Kucinskas syndrome is an autosomal recessive syndrome characterized by brain atrophy with clubfoot and arthrogryposis. It has been reported that mutations in ALKKUCS are associated with this syndrome ... | Congenital malformation | ALKKUCS [HSA:84162] [KO:K24964] | |
H02535 | Neurodevelopmental disorder with dysmorphic facies | Neurodevelopmental disorder (NED) with dysmorphic facies is a group of syndromic neurodevelopmental disorders. Some of them have complications in addition to dysmorphic facies. Several underlying genetic ... | Congenital malformation |
(NEDBAF) RAC3 [HSA:5881] [KO:K07861] (NEDFACH) EXOC2 [HSA:55770] [KO:K17637] (NEDDFAC) SUPT16H [HSA:11198] [KO:K25639] (NEDSID) SETD1A [HSA:9739] [KO:K11422] (NDCAGF) INTS1 [HSA:26173] [KO:K13138] (NECRC) ZMYM2 [HSA:7750] [KO:K24675] (NEDDFAS) EMC10 [HSA:284361] [KO:K23570] (NEDCAFD) TTC5 [HSA:91875] [KO:K24928] (NEDFASB) KAT5 [HSA:10524] [KO:K11304] (ODLURO) KMT2E [HSA:55904] [KO:K09189] (CFNDS) CCDC32 [HSA:90416] [KO:K27410] (CPPRDD) LRRC32 [HSA:2615] [KO:K26316] (HINCONS) RALA [HSA:5898] [KO:K07834] (ALKUS) SMG8 [HSA:55181] [KO:K18734] (NEDFLPH) TMEM147 [HSA:10430] [KO:K26498] (NEDGFAX) TCEAL1 [HSA:9338] [KO:K26769] (NEDGFC) FRA10AC1 [HSA:118924] [KO:K13121] (NEDFBA) SRSF1 [HSA:6426] [KO:K12890] (NEDLBF) UBAP2L [HSA:9898] [KO:K26545] (NEDGEF) ZNF668 [HSA:79759] [KO:K27106] (NEDITPO) SMG9 [HSA:56006] [KO:K18735] |
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