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Entry Name Description Category Pathway Gene
H00004 Chronic myeloid leukemia ... p210 BCR/ABL, an oncoprotein, which, unlike the normal p145 c-Abl, has constitutive tyrosine kinase activity and is predominantly localized in the cytoplasm. While fusion of c-ABL and BCR is believed to be ... Cancer hsa05220 Chronic myeloid leukemia BCR-ABL (translocation) [HSA:613 25] [KO:K08878 K06619]
MECOM (overexpression) [HSA:2122] [KO:K04462]
RUNX1 (translocation) [HSA:861] [KO:K08367]
CDKN2A [HSA:1029] [KO:K06621]
TP53 [HSA:7157] [KO:K04451]
RB1 [HSA:5925] [KO:K06618]
H00007 Hodgkin lymphoma ... lymphocytes, histiocytes, eosinophilic granulocytes and plasma cells. HRS cells show constitutive activity of both the classical and alternative NF-{kappa}B signalling pathways, which is probably a major ... 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] [KO:K28210]
H00014 Non-small cell lung cancer ... as p53, p16INK4a, RAR-beta, and RASSF1. Point mutations within the K-RAS gene inactivate GTPase activity and the p21-RAS protein continuously transmits growth signals to the nucleus. Mutations or overexpression ... Cancer hsa05223 Non-small cell lung cancer EML4-ALK (translocation) [HSA:238] [KO:K05119]
CD74-ROS1,SLC34A2-ROS1 (translocation) [HSA:6098] [KO:K05088]
KIF5B-RET (inversion) [HSA:5979] [KO:K05126]
RARB (promoter hypermethylation) [HSA:5915] [KO:K08528]
RASSF1 (promoter hypermethylation) [HSA:11186] [KO:K09850]
NRG1 (fusion) [HSA:3084] [KO:K05455]
KRAS [HSA:3845] [KO:K07827]
EGFR [HSA:1956] [KO:K04361]
FHIT [HSA:2272] [KO:K01522]
CDKN2A [HSA:1029] [KO:K06621]
TP53 [HSA:7157] [KO:K04451]
MET [HSA:4233] [KO:K05099]
BRAF [HSA:673] [KO:K04365]
PIK3CA [HSA:5290] [KO:K00922]
IRF1 [HSA:3659] [KO:K09444]
PPP2R1B [HSA:5519] [KO:K03456]
H00015 Malignant pleural mesothelioma ... aggressive tumor that arises from mesothelial cells lining the pleural, peritoneal and pericardial cavities. Malignant pleural mesothelioma (MPM) is the most common type, accounting for about 70% of all ... Cancer p53 (inactivation) [HSA:7157] [KO:K04451]
p16/CDKN2A (deletion) [HSA:1029] [KO:K06621]
p15/CDKN2B (deletion) [HSA:1030] [KO:K04685]
NF2 (mutation) [HSA:4771] [KO:K16684]
PDGF-A (overexpression) [HSA:5154] [KO:K04359]
PDGF-B (overexpression) [HSA:5155] [KO:K17386]
IGF-1 (expression) [HSA:3479] [KO:K05459]
IGF-R1 (expression) [HSA:3480] [KO:K05087]
H00024 Prostate cancer ... pathway also could be activated by amplification of the AR gene, by AR gene mutations, or by altered activity of AR coactivators. Through these mechanisms, tumor cells lead to the emergence of androgen-independent ... Cancer hsa05215 Prostate cancer AR (amplification, mutation) [HSA:367] [KO:K08557]
CDKN1B (allelic loss) [HSA:1027] [KO:K06624]
NKX3.1 (allelic loss) (decreased expression) [HSA:4824] [KO:K09348]
PTEN (allelic loss) [HSA:5728] [KO:K01110]
GSTP1 (hypermethylation) [HSA:2950] [KO:K23790]
TMPRSS2-ERG (translocation) [HSA:2078] [KO:K09435]
TMPRSS2-ETV1 (translocation) [HSA:2115] [KO:K09431]
TMPRSS2-ETV4 (translocation) [HSA:2118] [KO:K15592]
TMPRSS2-ETV5 (translocation) [HSA:2119] [KO:K15593]
SLC45A3-ETV1 (translocation) [HSA:2115] [KO:K09431]
SLC45A3-ELK4 (translocation) [HSA:2005] [KO:K04376]
DDX5-ETV4 (translocation) [HSA:2118] [KO:K15592]
MAD1L1 (somatic mutation) [HSA:8379] [KO:K06679]
KLF6 (somatic mutation) [HSA:1316] [KO:K09207]
MXI1 (somatic mutation) [HSA:4601] [KO:K09114]
ZFHX3 (somatic mutation) [HSA:463] [KO:K09378]
H00025 Penile cancer ... over-expression of MDM2 and mutation of p14ARF. Several other molecular events include alterations in the activity and/or expression of ras and myc genes, cyclo-oxygenase-2 (COX) pathway and prostaglandin E2 synthase ... Cancer p16/INK4a (promoter hypermethylation) [HSA:1029] [KO:K06621]
BMI1 (overexpression) [HSA:648] [KO:K11459]
p53 (mutation) [HSA:7157] [KO:K04451]
MDM2 (overexpression) [HSA:4193] [KO:K06643]
H-ras (mutation) [HSA:3265] [KO:K02833]
c-MYC (mutation) [HSA:4609] [KO:K04377]
E-Cadherin (expression) [HSA:999] [KO:K05689]
MMP-2 (expression) [HSA:4313] [KO:K01398]
MMP-9 (expression) [HSA:4318] [KO:K01403]
COX-2 (expression) [HSA:5743] [KO:K11987]
PTGES2 (expression) [HSA:80142] [KO:K05309]
H00046 Cholangiocarcinoma ... cancer. Many reports have implicated overexpression of the tyrosine kinase proto-oncogenes c-erbB-2 (HER-2/neu) and c-Met, as well as cyclo-oxygenase-2 (COX-2) activity in intrahepatic cholangiocarcinoma. Cancer K-ras (mutation) [HSA:3845] [KO:K07827]
p53 (mutation) [HSA:7157] [KO:K04451]
c-Met (overexpression) [HSA:4233] [KO:K05099]
ERBB2 (overexpression, amplification) [HSA:2064] [KO:K05083]
p16/INK4A (mutation) [HSA:1029] [KO:K06621]
COX2 (overexpression) [HSA:5743] [KO:K11987]
H00057 Parkinson disease ... dopaminergic input to the striatum, which is hypothesized to impede movement by inducing hypo and hyper activity in striatal spiny projection neurons (SPNs) of the direct (dSPNs) and indirect (iSPNs) pathways ... Neurodegenerative disease hsa05012 Parkinson disease (PARK1/PARK4) SNCA (duplication, triplication) [HSA:6622] [KO:K04528]
(PARK2) PRKN [HSA:5071] [KO:K04556]
(PARK5) UCHL1 [HSA:7345] [KO:K05611]
(PARK6) PINK1 [HSA:65018] [KO:K05688]
(PARK7) PARK7 [HSA:11315] [KO:K05687]
(PARK8) LRRK2 [HSA:120892] [KO:K08844]
(PARK9) ATP13A2 [HSA:23400] [KO:K13526]
(PARK11) GIGYF2 [HSA:26058] [KO:K18730]
(PARK13) HTRA2 [HSA:27429] [KO:K08669]
(PARK14) PLA2G6 [HSA:8398] [KO:K16343]
(PARK15) FBXO7 [HSA:25793] [KO:K10293]
(PARK17) VPS35 [HSA:55737] [KO:K18468]
(PARK18) EIF4G1 [HSA:1981] [KO:K03260]
(PARK19A/19B) DNAJC6 [HSA:9829] [KO:K09526]
(PARK20) SYNJ1 [HSA:8867] [KO:K20279]
(PARK22) CHCHD2 [HSA:51142] [KO:K22758]
(PARK23) VPS13C [HSA:54832] [KO:K19525]
(PARK24) PSAP [HSA:5660] [KO:K12382]
(PARK25) PTPA [HSA:5524] [KO:K17605]
(PARK26) RAB32 [HSA:10981] [KO:K07918]
MAPT [HSA:4137] [KO:K04380]
H00061 Prion disease ... dendritic atrophy, corticosteroid response, and endoplasmic reticulum stress. In addition, the conformational transition could lead to the lost of a beneficial activity of the natively folded protein, PrPC. Neurodegenerative disease hsa05020 Prion disease PRNP (mutation) [HSA:5621] [KO:K05634]
H00072 Pyruvate dehydrogenase complex deficiency ... dehydrogenase complex deficiency is an autosomal or X-linked recessive disorder caused by deficient enzyme activity in the pyruvate dehydrogenase complex, resulting in deficiency of acetyl CoA and reduced synthesis ... Inherited metabolic disorder (PDHAD) PDHA1 [HSA:5160] [KO:K00161]
(PDHBD) PDHB [HSA:5162] [KO:K00162]
(PDHDD) DLAT [HSA:1737] [KO:K00627]
(PDHPD) PDP1 [HSA:54704] [KO:K01102]
(PDHXD) PDHX [HSA:8050] [KO:K13997]
(DLDD) DLD [HSA:1738] [KO:K00382]
H00073 Pyruvate carboxylase deficiency Pyruvate carboxylase deficiency is an autosomal recessive disorder caused by deficient activity of pyruvate carboxylase, an enzyme that catalyzes conversion from pyruvate to oxaloacetate. Inherited metabolic disorder PC [HSA:5091] [KO:K01958]
H00081 Hashimoto thyroiditis ... production and clinical hypothyroidism, a condition that involves a marked reduction of metabolic activity in various cells and tissues. AITDs are regarded as polygenic disorders resulting from the combination ... Immune system disease CTLA4 [HSA:1493] [KO:K06538]
H00098 Chronic granulomatous disease Chronic granulomatous disease (CGD) is characterized by impaired activation of the NADPH oxidase activity in phagocytic cells, resulting in the inability of these cells to generate toxic oxygen radicals ... Primary immunodeficiency (CGDX) CYBB [HSA:1536] [KO:K21421]
(CGD1) NCF1 [HSA:653361] [KO:K08011]
(CGD3) NCF2 [HSA:4688] [KO:K08010]
(CGD3) NCF4 [HSA:4689] [KO:K08012]
(CGD4) CYBA [HSA:1535] [KO:K08009]
(CGD5) CYBC1 [HSA:79415] [KO:K25863]
H00105 Mannose-binding lectin pathway component defects
Lectin complement activation pathway, defect in (LCAPD) 		... acid with a glycine at position 105, a position in the first domain, CUB1, involved in calcium binding. This mutation abolishes the binding to MBL and ficolins, and deprives MASP-2 of functional activity. Primary immunodeficiency (LCAPD1) MBL2 [HSA:4153] [KO:K03991]
(LCAPD2) MASP2 [HSA:10747] [KO:K03993]
(LCAPD3) FCN3 [HSA:8547] [KO:K10104]
H00125 Fabry disease
Anderson-Fabry disease 		Fabry disease is an X-linked lysosomal storage disorder caused by deficient alpha-galactosidase A activity. Symptoms arise because of accumulation of glycosphingolipids -mainly globotriaosylceramide- in ... Inherited metabolic disorder, Lysosomal disease GLA [HSA:2717] [KO:K01189]
H00126 Gaucher disease ... recessive lysosomal storage disorder caused by deficient beta-glucocerebrosidase (glucosylceramidase) activity or saposin C which is an activator of beta-glucocerebrosidase in sphingolipid metabolism. The enzymatic ... Inherited metabolic disorder, Lysosomal disease (GD1/GD2/GD3/GD3C) GBA1 [HSA:2629] [KO:K01201]
(GDSAPC) PSAP [HSA:5660] [KO:K12382]
H00128 Mucopolysaccharidosis type I
Hurler-Scheie syndrome
Hurler syndrome
Scheie syndrome 		Mucopolysaccharidosis type I (MPS1) is an autosomal recessive lysosomal storage disorder caused by deficient activity of alpha-L-iduronidase in glycosaminoglycan degradation. The enzyme defect results in the accumulation ... Inherited metabolic disorder, Lysosomal disease (MPS1) IDUA [HSA:3425] [KO:K01217]
H00129 Mucopolysaccharidosis type II
Hunter syndrome 		Mucopolysaccharidosis type II (MPS2) is an X-linked lysosomal storage disorder caused by deficient activity of iduronate-2-sulfatase in glycosaminoglycan degradation. The enzyme defect results in the accumulation ... Inherited metabolic disorder, Lysosomal disease (MPS2) IDS [HSA:3423] [KO:K01136]
H00131 Mucopolysaccharidosis type VI
Maroteaux-Lamy syndrome 		Mucopolysaccharidosis type VI (MPS6) is an autosomal recessive lysosomal storage disorder caused by deficient activity of arylsulfatase B in glycosaminoglycan degradation. The enzyme defect results in the accumulation ... Inherited metabolic disorder, Lysosomal disease (MPS6) ARSB [HSA:411] [KO:K01135]
H00132 Mucopolysaccharidosis type VII
Sly syndrome 		Mucopolysaccharidosis type VII (MPS7) is an autosomal recessive lysosomal storage disorder caused by deficient activity of beta-glucuronidase in glycosaminoglycan degradation. The enzyme defect results in the accumulation ... Inherited metabolic disorder, Lysosomal disease (MPS7) GUSB [HSA:2990] [KO:K01195]
H00133 Mucopolysaccharidosis type IX
Hyaluronidase deficiency 		Mucopolysaccharidosis type IX (MPS9) is a very rare autosomal recessive lysosomal storage disorder caused by deficient activity of lysosomal hyaluronidase. Inherited metabolic disorder, Lysosomal disease (MPS9) HYAL1 [HSA:3373] [KO:K01197]
H00134 X-linked ichthyosis X-linked ichthyosis (XLI) is caused by deficient activity of steroid sulfatase. It is often associated with further clinical problems, including cryptorchidism or social communication deficits, such as ... Congenital malformation STS [HSA:412] [KO:K01131]
H00135 Krabbe disease
Globoid cell leukodystrophy 		... nervous systems. Mutations in the gene for the lysosomal enzyme galactosylceramidase (GALC) result in low enzymatic activity and decreased ability to degrade galactolipids found almost exclusively in myelin. Inherited metabolic disorder, Lysosomal disease (KRB) GALC [HSA:2581] [KO:K01202]
(KRBSAPA) PSAP [HSA:5660] [KO:K12382]
H00137 Niemann-Pick disease type A/B ... an autosomal recessive lysosomal storage disorder caused by deficient acid sphingomyelinase (ASM) activity, resulting in accumulation of sphingomyelin and cholesterol in many organs. ASM plays an important ... Inherited metabolic disorder, Lysosomal disease SMPD1 [HSA:6609] [KO:K12350]
H00138 Farber lipogranulomatosis
Farber disease 		... lipogranulomatosis (FRBRL) is a rare autosomal recessive sphingolipid storage disorder due to the deficient activity of lysosomal acid ceramidase, leading to the accumulation of ceramide in cells and tissues. Inherited metabolic disorder, Lysosomal disease ASAH1 [HSA:427] [KO:K12348]
H00139 alpha-Mannosidosis Alpha-mannosidosis (MANSA) is an autosomal recessive lysosomal storage disorder caused by deficient activity of alpha-mannosidase in glycoprotein catabolism. The enzymatic defect results in the accumulation ... Inherited metabolic disorder, Lysosomal disease MAN2B1 [HSA:4125] [KO:K12311]
H00140 beta-Mannosidosis Beta-Mannosidosis (MANSB) is an autosomal recessive lysosomal storage disorder caused by deficient activity of beta-mannosidase. This disorder is characterized by mental retardation, behavioural problems ... Inherited metabolic disorder, Lysosomal disease MANBA [HSA:4126] [KO:K01192]
H00141 Fucosidosis Fucosidosis is an autosomal recessive lysosomal storage disease caused by deficient activity of alpha fucosidase. The enzymatic defect results in the accumulation of a variety of fucose-rich storage products ... Inherited metabolic disorder, Lysosomal disease FUCA1 [HSA:2517] [KO:K01206]
H00142 Sialidosis
Mucolipidosis I 		Sialidosis is an autosomal recessive lysosomal storage disorder caused by deficient activity of sialidase (neuraminidase). The enzymatic defect results in the accumulation of sialidated glycopeptides and ... Inherited metabolic disorder, Lysosomal disease NEU1 [HSA:4758] [KO:K01186]
H00151 Cerebrotendinous xanthomatosis
Van Bogaert-Scherer-Epstein Disease 		Cerebrotendinous xanthomatosis (CTX) is an autosomal recessive lipid-storage disorder caused by deficient activity of CYP27A1 and characterized by formation of xanthomatous lesions in many tissues, particularly ... Inherited metabolic disorder CYP27A1 [HSA:1593] [KO:K00488]
H00174 Methylmalonic aciduria
Methylmalonic acidemia 		Methylmalonic aciduria (MMA) is caused by a deficiency of methylmalonyl-CoA mutase (mut type), which is a vitamin B12-dependent enzyme. Defects of adenosylcobalamin metabolism lead to variant forms of MMA (cblA ... Inherited metabolic disorder (MAMM) MMUT [HSA:4594] [KO:K01847]
(MACA) MMAA [HSA:166785] [KO:K07588]
(MACB) MMAB [HSA:326625] [KO:K00798]
(MACD) MMADHC [HSA:27249] [KO:K26006]
(MATR) CD320 [HSA:51293] [KO:K06734]
(MCE) MCEE [HSA:84693] [KO:K05606]
H00180 Holocarboxylase synthetase deficiency
Multiple carboxylase deficiency 		... an autosomal recessive disorder of biotin metabolism that results from holocarboxylase synthetase activity disruption. HLCS deficiency is also called multiple carboxylase deficiency, because deficient HLCS ... Inherited metabolic disorder HLCS [HSA:3141] [KO:K01942]
H00182 Cystathioninuria Hereditary cystathioninuria is caused by deficiency of the activity of cystathionine gamma-lyase, which is normally required for the conversion of methionine into cysteine. Patients with cystathioninuria ... Inherited metabolic disorder CTH [HSA:1491] [KO:K01758]
H00192 Xanthinuria ... (XAN1) and II (XAN2). Patients with XAN1 lack only xanthine dehydrogenase/xanthine oxidase (XDH/XO) activity, while patients with type II lack both XDH/XO and aldehyde oxidase activities. It has been suggested ... Inherited metabolic disorder (XAN1) XDH [HSA:7498] [KO:K00106]
(XAN2) MOCOS [HSA:55034] [KO:K15631]
H00194 Lesch-Nyhan syndrome
Hypoxanthine-guanine phosophoribosyltransferase deficiency 		Deficiency of hypoxanthine-guanine phosphoribosyltransferase activity is an inborn error of purine metabolism characterized by hyperuricemia with hyperuricosuria and a continuum spectrum of neurological ... Inherited metabolic disorder HPRT1 [HSA:3251] [KO:K00760]
H00196 Phosphoribosylpyrophosphate synthetase superactivity Phosphoribosylpyrophosphate synthetase superactivity is an X-linked inborn error of metabolism in which increased enzyme activity is associated with hyperuricemia and gout. Inherited metabolic disorder PRPS1 [HSA:5631] [KO:K00948]
H00198 Orotic aciduria Orotic aciduria is characterized by megaloblastic anemia that is unresponsive to vitamin B12 and folic acid. Inherited metabolic disorder UMPS [HSA:7372] [KO:K13421]
H00201 Erythropoietic porphyria ... (CEP) /Gunther Disease, and the very rare hepatoerythropoietic porphyria (HEP). The symptoms include photosensitivity and hemolytic anemia. ALAS deficiency is responsible for X-linked sideroblastic anemia. Inherited metabolic disorder (EPP1) FECH [HSA:2235] [KO:K01772]
(EPP2) CLPX [HSA:10845] [KO:K03544]
(CEP) UROS [HSA:7390] [KO:K01719]
(HEP) UROD [HSA:7389] [KO:K01599]
(XLDPP) ALAS2 [HSA:212] [KO:K00643]
H00206 Mevalonate kinase deficiency ... recurrent febrile crises, without any neurologic abnormalities or dysmorphic features. Mevalonic kinase activity in HIDS patients is generally in the range of 5-15% of normal as compared to 0-4% in MVA. Inherited metabolic disorder MVK [HSA:4598] [KO:K00869]
H00213 Hypophosphatasia Hypophosphatasia is an inherited disorder caused by deficiency of alkaline phosphatase activity and characterized by defective bone and teeth mineralization. The transmission of severe forms is autosomal ... Inherited metabolic disorder ALPL [HSA:249] [KO:K01077]
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