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Entry Name Description Category Pathway Gene
H00084 Graft-versus-host disease Graft-versus-host disease (GVHD) is a lethal complication of allogeneic hematopoietic stem cell transplantation (HSCT) where immunocompetent donor T cells attack the genetically disparate host cells. GVHD ... Immune system disease hsa05332 Graft-versus-host disease IL10 [HSA:3586] [KO:K05443]
TNF [HSA:7124] [KO:K03156]
IL1A [HSA:3552] [KO:K04383]
IL1RN [HSA:3557] [KO:K05481]
IFNG [HSA:3458] [KO:K04687]
IL6 [HSA:3569] [KO:K05405]
TGFB1 [HSA:7040] [KO:K13375]
TGFB2 [HSA:7042] [KO:K13376]
TGFB3 [HSA:7043] [KO:K13377]
IL13 [HSA:3596] [KO:K05435]
TNFRSF1B [HSA:7133] [KO:K05141]
IL2 [HSA:3558] [KO:K05429]
H00088 Common variable immunodeficiency There are three major categories of antibody deficiencies: (a) defects in early B cell development, (b) hyper-IgM syndromes (also called class switch recombination defects), and (c) common variable immunodeficiency ... Immune system disease (CVID1) ICOS [HSA:29851] [KO:K06713]
(CVID2) TNFRSF13B [HSA:23495] [KO:K05150]
(CVID3) CD19 [HSA:930] [KO:K06465]
(CVID4) TNFRSF13C [HSA:115650] [KO:K05151]
(CVID5) MS4A1 [HSA:931] [KO:K06466]
(CVID6) CD81 [HSA:975] [KO:K06508]
(CVID7) CR2 [HSA:1380] [KO:K04012]
(CVID8) LRBA [HSA:987] [KO:K24181]
(CVID10) NFKB2 [HSA:4791] [KO:K04469]
(CVID11) IL21 [HSA:59067] [KO:K05434]
(CVID12) NFKB1 [HSA:4790] [KO:K02580]
(CVID13) IKZF1 [HSA:10320] [KO:K09220]
(CVID14) IRF2BP2 [HSA:359948] [KO:K27448]
(CVID15) SEC61A1 [HSA:29927] [KO:K10956]
H00436 Osteopetrosis The osteopetroses are a heterogeneous group of disorders characterized by increased bone density and the replacement of trabecular bone with compact bone due to reduced osteoclastic bone resorption. Some ... Congenital malformation (OPTA1) LRP5 [HSA:4041] [KO:K03068]
(OPTA2/B4) CLCN7 [HSA:1186] [KO:K05016]
(OPTA3/B6) PLEKHM1 [HSA:9842] [KO:K23282]
(OPTB1) TCIRG1 [HSA:10312] [KO:K02154]
(OPTB2) TNFSF11 [HSA:8600] [KO:K05473]
(OPTB3) CA2 [HSA:760] [KO:K18245]
(OPTB5) OSTM1 [HSA:28962] [KO:K23863]
(OPTB7) TNFRSF11A [HSA:8792] [KO:K05147]
(OPTB8) SNX10 [HSA:29887] [KO:K17924]
(OPTB9) SLC4A2 [HSA:6522] [KO:K13855]
H00437 Paget disease of bone ... osteolytic disorders that show phenotypic overlap. Patients with these diseases carry mutations in RANK/TNFRSF11A, OPG/TNFRSF11B or SQSTM1, resulting in activation of RANKL-RANK signaling axis with increases ... Musculoskeletal disease (PDB2) TNFRSF11A [HSA:8792] [KO:K05147]
(PDB3) SQSTM1 [HSA:8878] [KO:K14381]
(PDB5) TNFRSF11B [HSA:4982] [KO:K05148]
(PDB6) ZNF687 [HSA:57592] [KO:K24375]
H00912 Tumor necrosis factor receptor-associated periodic syndrome
Familial periodic fever 		The tumor necrosis factor receptor-associated periodic syndrome (TRAPS) is a multisystem auto-inflammatory disorder that is inherited in an autosomal dominant manner. It is characterized by recurrent febrile ... Immune system disease TNFRSF1A [HSA:7132] [KO:K03158]
H01490 Multiple sclerosis Multiple Sclerosis (MS) is a chronic disease of the central nervous system (CNS) characterized by inflammation, demyelination and axonal loss. This disease typically strikes young adults, especially women ... Immune system disease (MS) PDCD1 [HSA:5133] [KO:K06744]
(MS) HLA-DRB1 [HSA:3123] [KO:K06752]
(MS) HLA-DQB1 [HSA:3119] [KO:K06752]
(MS5) TNFRSF1A [HSA:7132] [KO:K03158]
H02042 Familial expansile osteolysis ... increased osteoclast activity, medullary expansion, and hearing and dental problems. The mutations in the TNFRSF11A gene encoding RANK have been identified. FEO is similar in some respects to Paget's disease but ... Musculoskeletal disease TNFRSF11A [HSA:8792] [KO:K05147]
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]
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]
H02610 Head and neck squamous cell carcinoma Head and neck squamous cell carcinoma (HNSCC) is the sixth most common cancer in the world, affecting the pharynx, larynx and oral cavity. It is well known that smoking and alcohol abuse are major risk ... Cancer TNFRSF10B [HSA:8795] [KO:K04722]
ING1 [HSA:3621] [KO:K19197]
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