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81 to 94 of 94 Prev 1 2 3
Entry Name Description Category Pathway Gene
H02412 Atypical chronic myeloid leukemia Atypical chronic myeloid leukemia (aCML) is a rare subtype of myelodysplastic/myeloproliferative neoplasm (MDS/MPN). It is characterized by leukocytosis, granulocytic dysplasia, and typically poor patient ... Cancer SETBP1 (mutation) [HSA:26040] [KO:K23217]
NRAS (mutation) [HSA:4893] [KO:K07828]
KRAS (mutation) [HSA:3845] [KO:K07827]
JAK2 (mutation) [HSA:3717] [KO:K04447]
CSF3R (mutation) [HSA:1441] [KO:K05061]
ASXL1 (mutation) [HSA:171023] [KO:K11471]
ETNK1 (mutation) [HSA:55500] [KO:K00894]
TET2 (mutation) [HSA:54790] [KO:K24309]
SRSF2 (mutation) [HSA:6427] [KO:K12891]
EZH2 (mutation) [HSA:2146] [KO:K11430]
RUNX1 (mutation) [HSA:861] [KO:K08367]
CBL (mutation) [HSA:867] [KO:K04707]
FLT3 (mutation) [HSA:2322] [KO:K05092]
CEBPA (mutation) [HSA:1050] [KO:K09055]
IDH2 (mutation) [HSA:3418] [KO:K00031]
H02434 Diffuse large B-cell lymphoma, not otherwise specified Diffuse large B-cell lymphoma, not otherwise specified (DLBCL, NOS) is the most common type of DLBCL. DLBCL accounts for 30-40% of all non-Hodgkin lymphomas (NHL), making it the most prevalent form of ... Cancer EZH2 (mutation) [HSA:2146] [KO:K11430]
CREBBP (mutation/deletion) [HSA:1387] [KO:K04498]
EP300 (mutation/deletion) [HSA:2033] [KO:K04498]
GNA13 (mutation) [HSA:10672] [KO:K04639]
GNAI2 (mutation) [HSA:2768] [KO:K04346]
TNFRSF14 (mutation) [HSA:8764] [KO:K05152]
BCL6 (mutation) [HSA:604] [KO:K15618]
MYC (chromosomal translocation) [HSA:4609] [KO:K04377]
PTEN (deletion) [HSA:5728] [KO:K01110]
BCL2 (chromosomal translocation / mutation) [HSA:596] [KO:K02161]
CARD11 (mutation) [HSA:84433] [KO:K07367]
CD79A (mutation) [HSA:973] [KO:K06506]
CD79B (mutation) [HSA:974] [KO:K06507]
TNFAIP3 (mutation/deletion) [HSA:7128] [KO:K11859]
MYD88 (mutation) [HSA:4615] [KO:K04729]
CDKN2A (deletion) [HSA:1029] [KO:K06621]
CDKN2B (deletion) [HSA:1030] [KO:K04685]
PRDM1 (mutation/deletion) [HSA:639] [KO:K24501]
MLL2 (mutation) [HSA:8085] [KO:K09187]
MLL3 (mutation) [HSA:58508] [KO:K09188]
B2M (mutation/deletion) [HSA:567] [KO:K08055]
CD58 (mutation/deletion) [HSA:965] [KO:K06492]
TP53 (mutation) [HSA:7157] [KO:K04451]
MEF2B (mutation) [HSA:100271849] [KO:K09261]
FOXO1 (mutation) [HSA:2308] [KO:K07201]
H02451 Congenital disorder of glycosylation with defective fucosylation Congenital disorder of glycosylation with defective fucosylation (CDGF) is a rare inherited metabolic disorder due to abnormalities in fucosylation, which is an enzymatic process of incorporating L-fucose ... Inherited metabolic disorder (CDGF1) FUT8 [HSA:2530] [KO:K00717]
(CDGF2) FCSK [HSA:197258] [KO:K05305]
H02457 Developmental delay, leukoencephalopathy, and neurologic decompensation ... decompensation is an autosomal dominant neurodevelopmental syndrome caused by missense mutations in EIF2AK1 and EIF2AK2. They encode members of the eIF-2-alpha kinase family that inhibits protein synthesis ... Nervous system disease (LEMSPAD) EIF2AK1 [HSA:27102] [KO:K16194]
(LEUDEN) EIF2AK2 [HSA:5610] [KO:K16195]
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]
H02470 Neurodevelopmental disorder with structural brain abnormalities Neurodevelopmental disorder (NED) with structural brain abnormalities is a group of syndromic neurodevelopmental disorders. Most of them have complications in addition to microcephaly. Several underlying ... Congenital malformation (NDAGSCW) RAB11B [HSA:9230] [KO:K07905]
(NEDBAVC) DHX37 [HSA:57647] [KO:K14780]
(NEDCHS) INTS8 [HSA:55656] [KO:K13145]
(NEDCAS) BRAT1 [HSA:221927] [KO:K23112]
(NEDEHCC) LNPK [HSA:80856] [KO:K23292]
(NEDBAS) DLL1 [HSA:28514] [KO:K06051]
(NEDSBAS) WDR45B [HSA:56270] [KO:K22991]
(NEDSWMA) HPDL [HSA:84842] [KO:K24788]
(NEDVIBA) HK1 [HSA:3098] [KO:K00844]
(NEDBA) MAPK8IP3 [HSA:23162] [KO:K04436]
(NECFM) NACC1 [HSA:112939] [KO:K10486]
(NEDMHM) ARHGEF2 [HSA:9181] [KO:K12791]
(NEDBASS) PTPN23 [HSA:25930] [KO:K18040]
(NEDABA) ODC1 [HSA:4953] [KO:K01581]
(NEDESBA) TRAPPC4 [HSA:51399] [KO:K20303]
(NEDASB) NOVA2 [HSA:4858] [KO:K14944]
(NEDCAM) GEMIN5 [HSA:25929] [KO:K13133]
(NEDSCAC) MED27 [HSA:9442] [KO:K15170]
(NEDCASB) SHMT2 [HSA:6472] [KO:K00600]
(NEDHSB) SPATA5 [HSA:166378] [KO:K14575]
(NEDMLHB) TAF8 [HSA:129685] [KO:K14649]
(NEDSSBA) NSRP1 [HSA:84081] [KO:K13206]
(NEDMLOB) INTS11 [HSA:54973] [KO:K13148]
(NEDMSB) PI4K2A [HSA:55361] [KO:K13711]
H02505 Atherosclerosis Atherosclerosis is a chronic inflammatory disease marked by a narrowing of the arteries from lipid-rich plaques present within the walls of arterial blood vessels. It represents the root cause of the majority ... Cardiovascular disease hsa05417 Lipid and atherosclerosis LDLR [HSA:3949] [KO:K12473]
APOB [HSA:338] [KO:K14462]
PCSK9 [HSA:255738] [KO:K13050]
LDLRAP1 [HSA:26119] [KO:K12474]
ABCG5 [HSA:64240] [KO:K05683]
ABCG8 [HSA:64241] [KO:K05684]
LCAT [HSA:3931] [KO:K00650]
ABCA1 [HSA:19] [KO:K05641]
APOA1 [HSA:335] [KO:K08757]
MEF2A [HSA:4205] [KO:K09260]
LRP6 [HSA:4040] [KO:K03068]
H02538 Paraganglioma Paragangliomas (PGLs) are rare neuroendocrine tumors that arise in sympathetic and parasympathetic paraganglia and derive from neural crest cells. The pathogenesis and progression of PGLs are very strongly ... Neoplasm (PGL1) SDHD [HSA:6392] [KO:K00237]
(PGL2) SDHAF2 [HSA:54949] [KO:K18168]
(PGL3) SDHC [HSA:6391] [KO:K00236]
(PGL4) SDHB [HSA:6390] [KO:K00235]
(PGL5) SDHA [HSA:6389] [KO:K00234]
(PGL6) SLC25A11 [HSA:8402] [KO:K15104]
(PGL7) DLST [HSA:1743] [KO:K00658]
H02587 Luo-Schoch-Yamamoto syndrome Luo-Schoch-Yamamoto syndrome (LUSYAM) is a novel neurodevelopmental disorder caused by mutations in RNF2. LUSYAM is characterized by global developmental delay, severe intellectual disabilities, behavioral ... Congenital malformation RNF2 [HSA:6045] [KO:K10695]
H02611 Turnpenny-Fry syndrome ... developmental delay, facial dysmorphism, and skeletal abnormalities. It has been reported that mutations in PCGF2 cause this syndrome. PCGF2 plays a role in embryogenesis, cell proliferation, histone modification ... Congenital malformation PCGF2 [HSA:7703] [KO:K11460]
H02639 Atelis syndrome ... dicentric chromosomes with mosaic variegated hyperploidy. It has been reported that pathogenic variants in SLF2 and SMC5 cause this disease. They are components of the RAD18-SLF1/2-SMC5/6 genome stability pathway Congenital malformation (ATELS1) SLF2 [HSA:55719] [KO:K26127]
(ATELS2) SMC5 [HSA:23137] [KO:K22803]
H02685 Developmental delay with neuropsychiatric disorders Developmental delay with neuropsychiatric disorders is a group of neurodevelopmental disorders characterized by global developmental delay and neurologic deficits. Additional features may include speech ... Congenital malformation (DIGFAN) MORC2 [HSA:22880] [KO:K24135]
(DDISBA) SPTBN1 [HSA:6711] [KO:K06115]
(DEHMBA) SRCAP [HSA:10847] [KO:K11661]
(DENBA) LMBRD2 [HSA:92255]
(DEDISB) ARFGEF1 [HSA:10565] [KO:K18442]
(DEDHIL) FBXW7 [HSA:55294] [KO:K10260]
(DEDBANP) ADGRL1 [HSA:22859] [KO:K04592]
(DEVLO) ARPC4 [HSA:10093] [KO:K05755]
(DEDHMB) GOLGA2 [HSA:2801] [KO:K20358]
(DDDS) MANF [HSA:7873] [KO:K22556]
(DDVIBA) TCF20 [HSA:6942] [KO:K24769]
(DIDOD) PHIP [HSA:55023] [KO:K11797]
(DDIB) TAOK1 [HSA:57551] [KO:K04429]
(DEVDFB) U2AF2 [HSA:11338] [KO:K12837]
H02702 Tylosis with esophageal cancer ... precursor lesions, and a high lifetime risk of esophageal cancer. It has been reported that mutations in RHBDF2 cause this disease. RHBDF2 is an inactive rhomboid protease, which has recently been shown to regulate ... Congenital malformation RHBDF2 [HSA:79651] [KO:K27588]
H02715 Neurodevelopmental disorder with defects of ubiquitin-proteasome system The ubiquitin-proteasome system (UPS) is the major proteolytic system that controls protein degradation and it regulates many cellular processes, such as cell division, gene expression and signal transduction ... Congenital malformation (NEDSG) UFC1 [HSA:51506] [KO:K12165]
(NDHSAL) HECW2 [HSA:57520] [KO:K12168]
(NEDAUS) CUL3 [HSA:8452] [KO:K03869]
(NEDAMSS) IRF2BPL [HSA:64207] [KO:K22383]
(NEDHMS) UBE4A [HSA:9354] [KO:K10596]
(NEDSMB) UBE3C [HSA:9690] [KO:K10589]
(NEDSSCC) HECTD4 [HSA:283450] [KO:K17849]
(NEDMHAL) PSMB1 [HSA:5689] [KO:K02732]
(STISS) PSMD12 [HSA:5718] [KO:K03035]
(BKAH) PSMC1 [HSA:5700] [KO:K03062]
(CAFDADD) TRAF7 [HSA:84231] [KO:K10646]
81 to 94 of 94 Prev 1 2 3
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