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Entry Name Description Category Pathway Gene
H00007 Hodgkin lymphoma Hodgkin's lymphoma (HL) is one of the most frequent lymphomas in the Western world and often affects young adults. HL is subdivided into classical and nodular lymphocyte-predominant forms. About 95% of ... Cancer NFKBIA [HSA:4792] [KO:K04734]
NFKBIE [HSA:4794] [KO:K05872]
REL (amplification) [HSA:5966] [KO:K09254]
FAS [HSA:355] [KO:K04390]
KLHDC8B [HSA:200942]
H00008 Burkitt lymphoma Burkitt lymphoma (BL) is a highly aggressive mature B-cell non-Hodgkin's lymphoma consisting of endemic, sporadic, and immunodeficiency-associated variants. Endemic BL (eBL) affects children and young ... Cancer MYC-IgH (translocation) [HSA:4609] [KO:K04377]
p53 (mutation) [HSA:7157] [KO:K04451]
p16/INK4A (promoter methylation) [HSA:1029] [KO:K06621]
H00011 Lymphoplasmacytic lymphoma Lymphoplasmacytic lymphoma (LPL)/Waldenstrom's macroglobulinemia (WM) is a non-Hodgkin lymphoma (NHL) subtype. LPL/WM is a neoplasm of small B-lymphocytes, plasmacytoid lymphocytes, and plasma cells, usually ... Cancer Pax5-IgH (translocation) [HSA:5079] [KO:K09383]
H00087 Other humoral immunodeficiencies Immunodeficiency, centromeric instability, facial anomaly syndrome (ICF syndrome) is a rare autosomal recessive syndrome associated with mutations in the DNA methyltransferase 3B gene (DNMT3B) in 75% of ... Immune system disease DNMT3B [HSA:1789] [KO:K17399]
IGKC
Ig heavy chain
H00367 Infectious mononucleosis
Epstein-Barr virus (EBV) infection 		... establishes a life-long asymptomatic infection in B cells and can contribute to oncogenesis including Burkitt's lymphoma, nasopharyngeal carcinoma, Hodgkin lymphoma, and post-transplant B cell lymphomas. Viral infectious disease hsa05169 Epstein-Barr virus infection
H00406 Acquired immunodeficiency syndrome (AIDS) ... HIV/AIDS can be ascribed to the profound immune deficiency in patients. HIV infection also increases the risk of autoimmune diseases and malignancies such as non-Hodgkin's lymphoma and Kaposi's sarcoma. Immune system disease; Viral infectious disease hsa05170 Human immunodeficiency virus 1 infection
H00469 Mitochondrial DNA depletion syndrome Mitochondrial DNA depletion syndromes (MDSs) are a group of heterogeneous autosomal recessive disorders associated with a severe reduction in mitochondrial DNA in the affected tissues. The manifestations ... Inherited metabolic disorder, Mitochondrial disease (MTDPS1) TYMP [HSA:1890] [KO:K00758]
(MTDPS2) TK2 [HSA:7084] [KO:K00857]
(MTDPS3) DGUOK [HSA:1716] [KO:K00904]
(MTDPS4A/4B) POLG [HSA:5428] [KO:K02332]
(MTDPS5) SUCLA2 [HSA:8803] [KO:K01900]
(MTDPS6) MPV17 [HSA:4358] [KO:K13348]
(MTDPS7) TWNK [HSA:56652] [KO:K17680]
(MTDPS8A/8B) RRM2B [HSA:50484] [KO:K10808]
(MTDPS9) SUCLG1 [HSA:8802] [KO:K01899]
(MTDPS10) AGK [HSA:55750] [KO:K09881]
(MTDPS11) MGME1 [HSA:92667] [KO:K19465]
(MTDPS12A/12B) SLC25A4 [HSA:291] [KO:K05863]
(MTDPS13) FBXL4 [HSA:26235] [KO:K10270]
(MTDPS14) OPA1 [HSA:4976] [KO:K17079]
(MTDPS15) TFAM [HSA:7019] [KO:K11830]
(MTDPS16/16B) POLG2 [HSA:11232] [KO:K02333]
(MTDPS17) MRM2 [HSA:29960] [KO:K02427]
(MTDPS18) SLC25A21 [HSA:89874] [KO:K15110]
(MTDPS19) SLC25A10 [HSA:1468] [KO:K13577]
(MTDPS20) LIG3 [HSA:3980] [KO:K10776]
H00664 Anemia due to disorders of glycolytic enzymes ... Neurological phenotypes have been found to be associated only with specific mutations affecting TPI, PGK and, in rare cases, GPI. The symptoms of TPI deficiency are generally much more severe than those ... Hematologic disease HK1 [HSA:3098] [KO:K00844]
PGK1 [HSA:5230] [KO:K00927]
TPI1 [HSA:7167] [KO:K01803]
GPI [HSA:2821] [KO:K01810]
BPGM [HSA:669] [KO:K01837]
H00752 Ankyloblepharon-ectodermal defects-cleft lip/palate (AEC) syndrome and Rapp-Hodgkin syndrome Ankyloblepharon-ectodermal defects-cleft lip/palate (AEC) syndrome (also known as Hay-Wells syndrome) and Rapp-Hodgkin syndrome are rare ectodermal dysplasias characterized by ankyloblepharon filiforme adnatum and cleft ... Congenital malformation TP63 [HSA:8626] [KO:K10149]
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]
H01337 Laribacter hongkongensis infection Laribacter hongkongensis is a facultatively anaerobic, nonsporulating, gram-negative, spiral rod-shaped bacterium belongs to the Neisseriaceae family of the beta-subclass of Proteobacteria. L. hongkongensis ... Bacterial infectious disease
H01464 Mantle cell lymphoma Mantle cell lymphoma (MCL) is a B-cell non-Hodgkin lymphoma (NHL) and it accounts for about 6% of all NHL cases. Diagnosis is based on lymph node, bone marrow, or tissue morphology of centrocytic lymphocytes ... Cancer Cyclin D1 (overexpression) [HSA:595] [KO:K04503]
p16/INK4a (deletion) [HSA:1029] [KO:K06621]
p53 (mutation) [HSA:7157] [KO:K04451]
H01489 Inherited glycosylphosphatidylinositol deficiencies
Glycosylphosphatidylinositol biosynthesis deficiency 		Inherited glycosylphosphatidylinositol biosynthesis deficiency (GPIBD) is a group of glycosylation disorders, which result from mutation in genes involved in the biosynthesis of GPI anchors. Mutations ... Inherited metabolic disorder (GPIBD1) PIGM [HSA:93183] [KO:K05284]
(GPIBD2) PIGV [HSA:55650] [KO:K07542]
(GPIBD3) PIGN [HSA:23556] [KO:K05285]
(GPIBD4) PIGA [HSA:5277] [KO:K03857]
(GPIBD5) PIGL [HSA:9487] [KO:K03434]
(GPIBD6) PIGO [HSA:84720] [KO:K05288]
(GPIBD7) PIGT [HSA:51604] [KO:K05292]
(GPIBD8) PGAP2 [HSA:27315] [KO:K23552]
(GPIBD9) PGAP1 [HSA:80055] [KO:K05294]
(GPIBD10) PGAP3 [HSA:93210] [KO:K23553]
(GPIBD11) PIGW [HSA:284098] [KO:K05283]
(GPIBD12) PIGY [HSA:84992] [KO:K11001]
(GPIBD13) PIGG [HSA:54872] [KO:K05310]
(GPIBD14) PIGP [HSA:51227] [KO:K03861]
(GPIBD15) GPAA1 [HSA:8733] [KO:K05289]
(GPIBD16) PIGC [HSA:5279] [KO:K03859]
(GPIBD17) PIGH [HSA:5283] [KO:K03858]
(GPIBD18) PIGS [HSA:94005] [KO:K05291]
(GPIBD19) PIGQ [HSA:9091] [KO:K03860]
(GPIBD20) PIGB [HSA:9488] [KO:K05286]
(GPIBD21) PIGU [HSA:128869] [KO:K05293]
(GPIBD22) PIGK [HSA:10026] [KO:K05290]
(GPIBD25) C18orf32 [HSA:497661]
H01657 Nephrotic syndrome Nephrotic syndrome (NPHS) is a heterogeneous group of disorders characterized by heavy proteinuria (more than 3.5 grams per day), hypoalbuminemia, hyperlipidemia, and edema. Congenital nephrotic syndrome ... Urinary system disease (NPHS1) NPHS1 [HSA:4868] [KO:K24496]
(NPHS2) NPHS2 [HSA:7827] [KO:K18268]
(NPHS3) PLCE1 [HSA:51196] [KO:K05860]
(NPHS4) WT1 [HSA:7490] [KO:K09234]
(NPHS5) LAMB2 [HSA:3913] [KO:K06243]
(NPHS6) PTPRO [HSA:5800] [KO:K18035]
(NPHS7) DGKE [HSA:8526] [KO:K00901]
(NPHS8) ARHGDIA [HSA:396] [KO:K12462]
(NPHS9) COQ8B [HSA:79934] [KO:K08869]
(NPHS10) EMP2 [HSA:2013] [KO:K26256]
(NPHS11) NUP107 [HSA:57122] [KO:K14301]
(NPHS12) NUP93 [HSA:9688] [KO:K14309]
(NPHS13) NUP205 [HSA:23165] [KO:K14310]
(NPHS14) SGPL1 [HSA:8879] [KO:K01634]
(NPHS15) MAGI2 [HSA:9863] [KO:K05629]
(NPHS16) KANK2 [HSA:25959] [KO:K22808]
(NPHS17) NUP85 [HSA:79902] [KO:K14304]
(NPHS18) NUP133 [HSA:55746] [KO:K14300]
(NPHS19) NUP160 [HSA:23279] [KO:K14303]
(NPHS20) TBC1D8B [HSA:54885] [KO:K19951]
(NPHS21/25) AVIL [HSA:10677] [KO:K08017]
(NPHS22) NOS1AP [HSA:9722] [KO:K16513]
(NPHS23) KIRREL1 [HSA:55243] [KO:K25874]
(NPHS24) DAAM2 [HSA:23500] [KO:K04512]
(NPHS26) LAMA5 [HSA:3911] [KO:K06240]
H01726 Membranoproliferative glomerulonephritis Membranoproliferative glomerulonephritis (MPGN) represents a pattern of glomerular injury, characterized by mesangial proliferation and expansion, lobularization of the glomerular tufts, and double contours ... Immune system disease; Urinary system disease CFH [HSA:3075] [KO:K04004]
CFHR5 [HSA:81494] [KO:K23817]
DGKE [HSA:8526] [KO:K00901]
H01804 Isaacs syndrome ... or acquired. Recent evidences suggest that autoantibodies against voltage-gated potassium channels (VGKC-Abs) are associated with this disease. Treatment commonly includes anticonvulsants, immunosuppressive ... Nervous system disease; Musculoskeletal disease
H02013 Glycerol kinase deficiency ... form (chromosome Xp21 deletion syndrome). Isolated glycerol kinase deficiency results from mutations in GK gene. It has an inconstant phenotype, ranging from asymptomatic hyperglycerolemia to a severe metabolic ... Inherited metabolic disorder GK [HSA:2710] [KO:K00864]
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]
H02397 Neurodevelopmental disorder with movement abnormalities or hypotonia Neurodevelopmental disorder (NED) with movement abnormalities or hypotonia is a group of syndromic neurodevelopmental disorders. Some of them have complications in addition to movement abnormalities or ... Congenital malformation (NEDMAGA) ZSWIM6 [HSA:57688] [KO:K25704]
(NEDBASH) NTNG2 [HSA:84628] [KO:K16359]
(NEDIMAE) SYT1 [HSA:6857] [KO:K15290]
(NEDHAHM) VAMP2 [HSA:6844] [KO:K13504]
(NEDHRIT) RALGAPA1 [HSA:253959] [KO:K25768]
(NEDHFBA) PPP1R21 [HSA:129285] [KO:K17562]
(NEDHYBA) CLCN3 [HSA:1182] [KO:K05012]
(NEDDISH) MADD [HSA:8567] [KO:K26162]
(NEDCHF) HDAC4 [HSA:9759] [KO:K11406]
(NEDEMA) FRMD5 [HSA:84978] [KO:K23969]
(NEDHFS) PGM2L1 [HSA:283209] [KO:K11809]
(NEDHSS) EIF4A2 [HSA:1974] [KO:K03257]
(NEDSTO) TNR [HSA:7143] [KO:K06252]
(NEDSIS) CACNA1I [HSA:8911] [KO:K04856]
(NEDIHSS) ESAM [HSA:90952] [KO:K06787]
(NEDNMS) NRCAM [HSA:4897] [KO:K06756]
(NEDRSO) SNAPC4 [HSA:6621] [KO:K09453]
(NEDMSF) PUM1 [HSA:9698] [KO:K17943]
(NEDHBA) SLC4A10 [HSA:57282] [KO:K13861]
(NEDHLSS) CACNA1C [HSA:775] [KO:K04850]
(NEDHCAS) PIGK [HSA:10026] [KO:K05290]
(NEDDS) SHQ1 [HSA:55164] [KO:K14764]
(NEDHYD) ADCY5 [HSA:111] [KO:K08045]
(NEDNEH) CACNA1B [HSA:774] [KO:K04849]
(NEDHELS) DEAF1 [HSA:10522] [KO:K23041]
(NEDHCS) SNIP1 [HSA:79753] [KO:K13108]
(NEDPM) ACBD6 [HSA:84320]
(NEDHS) OTUD7A [HSA:161725] [KO:K11860]
H02418 Non-Hodgkin lymphoma Non-Hodgkin lymphoma (NHL) is one of the most common hematologic malignancies worldwide. NHL includes malignant tumors of the lymphoid tissues variously resulting from the clonal growth of B cells, T cells ... Cancer RAD54L [HSA:8438] [KO:K10875]
RAD54B [HSA:25788] [KO:K10877]
CASP10 [HSA:843] [KO:K04400]
PRF1 [HSA:5551] [KO:K07818]
H02424 Primary central nervous system lymphoma Primary central nervous system lymphoma (PCNSL) is an extranodal non-Hodgkin lymphoma (NHL) confined to the brain, leptomeninges, eyes, or spinal cord. Most PCNSLs are diffuse large B-cell lymphoma (DLBCL; ... Cancer MYD88 (mutation) [HSA:4615] [KO:K04729]
CD79B (mutation) [HSA:974] [KO:K06507]
CARD11 (mutation) [HSA:84433] [KO:K07367]
TNFAIP3 (mutation) [HSA:7128] [KO:K11859]
HLA-DRB5 (deletion) [HSA:3127] [KO:K06752]
CDKN2A (deletion) [HSA:1029] [KO:K06621]
H02434 Diffuse large B-cell lymphoma, not otherwise specified ... 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 NHL. DLBCL can occur as primary disease or ... 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]
H02733 Growth restriction, hypoplastic kidneys, alopecia, and distinctive facies Growth restriction, hypoplastic kidneys, alopecia, and distinctive facies (GKAF) is a novel autosomal recessive multisystem syndrome. It has been reported that a ZPR1 mutation is associated with GKAF. ... Congenital malformation ZPR1 [HSA:8882] [KO:K06874]
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