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Entry Name Description Category Pathway Gene
H00019 Pancreatic cancer ... they can also act as RAS signal transducers via RAS-induced autocrine activation of the EGFR family ligands. Moreover, PDA shows extensive genomic instability and aneuploidy. Telomere attrition and mutations ... Cancer hsa05212 Pancreatic cancer KRAS [HSA:3845] [KO:K07827]
TP53 [HSA:7157] [KO:K04451]
SMAD4 [HSA:4089] [KO:K04501]
STK11 [HSA:6794] [KO:K07298]
ERBB2 (overexpression) [HSA:2064] [KO:K05083]
CDKN2A (mutation, deletion, promoter methylation) [HSA:1029] [KO:K06621]
(PNCA1) PALLD [HSA:23022] [KO:K22029]
(PNCA2) BRCA2 [HSA:675] [KO:K08775]
(PNCA3) PALB2 [HSA:79728] [KO:K10897]
(PNCA4) BRCA1 [HSA:672] [KO:K10605]
(PNCA5) RABL3 [HSA:285282] [KO:K07933]
H00024 Prostate cancer ... apoptosis. Androgen receptor (AR) is a transcription factor that is normally activated by its androgen ligand. During androgen withdrawal therapy, the AR signal transduction pathway also could be activated ... 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]
H00037 Rhabdomyosarcoma ... presumed to be associated with the skeletal muscle lineage, although those tumors can be present in organs histologically lacking skeletal muscle, like prostate, urinary bladder or gallbladder. RMS is divided ... Cancer PAX3-FOXO1 (translocation) [HSA:5077 2308] [KO:K09381 K07201]
PAX7-FOXO1 (translocation) [HSA:5081 2308] [KO:K09381 K07201]
MDM2 (amplification) [HSA:4193] [KO:K06643]
SLC22A18 [HSA:5002] [KO:K08214]
DICER1 [HSA:23405] [KO:K11592]
H00043 Neuroblastoma ... amplification of the MYCN protooncogene. They might also express the TrkB neurotrophin receptor and its ligand, brain-derived neurotrophic factor (BDNF). These patients are usually older than 1 year of age, ... Cancer MYCN (normal/amplified) [HSA:4613] [KO:K09109]
NTRK1 (high/low expression) [HSA:4914] [KO:K03176]
NTRK2 (low/high expression) [HSA:4915] [KO:K04360]
NTRK3 (high/low expression) [HSA:4916] [KO:K05101]
(NBLST1) KIF1B [HSA:23095] [KO:K10392]
(NBLST2) PHOX2B [HSA:8929] [KO:K09330]
(NBLST3) ALK [HSA:238] [KO:K05119]
H00056 Alzheimer disease
Dementia due to Alzheimer disease 		... Amyloid-beta (Abeta), a major component of senile plaques, has various pathological effects on cell and organelle function. To date genetic studies have revealed four genes that may be linked to autosomal dominant ... Neurodegenerative disease hsa05010 Alzheimer disease (AD1) APP [HSA:351] [KO:K04520]
(AD2) APOE [HSA:348] [KO:K04524]
(AD3) PSEN1 [HSA:5663] [KO:K04505]
(AD4) PSEN2 [HSA:5664] [KO:K04522]
(AD9) ABCA7 [HSA:10347] [KO:K05645]
(AD18) ADAM10 [HSA:102] [KO:K06704]
H00057 Parkinson disease ... 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 in the basal ganglia, respectively. 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]
(PARK19) DNAJC6 [HSA:9829] [KO:K09526]
(PARK22) CHCHD2 [HSA:51142] [KO:K22758]
(PARK23) VPS13C [HSA:54832] [KO:K19525]
(PARK24) PSAP [HSA:5660] [KO:K12382]
(PARK25) PTPA [HSA:5524] [KO:K17605]
(IDLDP) NR4A2 [HSA:4929] [KO:K08558]
MAPT [HSA:4137] [KO:K04380]
H00083 Allograft rejection ... recipient's alloimmune response to nonself antigens expressed by donor tissues. After transplantation of organ allografts, there are two pathways of antigen presentation. In the direct pathway, recipient T cells ... Immune system disease hsa05330 Allograft rejection TNF [HSA:7124] [KO:K03156]
IL10 [HSA:3586] [KO:K05443]
TGFB1 [HSA:7040] [KO:K13375]
TGFB2 [HSA:7042] [KO:K13376]
TGFB3 [HSA:7043] [KO:K13377]
IFNG [HSA:3458] [KO:K04687]
HLA-DMA [HSA:3108] [KO:K06752]
ICAM1 [HSA:3383] [KO:K06490]
CTLA4 [HSA:1493] [KO:K06538]
ACE [HSA:1636] [KO:K01283]
ITGB3 [HSA:3690] [KO:K06493]
H00084 Graft-versus-host disease ... tissue damage seen during step 3. During step 3, the effector phase, activated CTL and NK cells mediate cytotoxicity against target host cells through Fas-Fas ligand interactions and perforin-granzyme B. 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 ... of disease. Heterozygous mutations in the TNF receptor family member TACI (transmembrane activator and calcium-modulating cyclophilin ligand interactor) can be found in up to 10% of patients with CVID. 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]
H00090 NK cell defects ... found on NK cells as well as macrophages and some T cells. The receptor allows NK cells to phagocytose organisms or cells coated with IgG in the absence of MHC (antibody-dependent cellular cytotoxicity). The ... Primary immunodeficiency FCGR3A [HSA:2214] [KO:K06463]
H00093 Combined immunodeficiency ... anomaly in X-linked hyper-IgM syndrome has been mapped to Xq26, and resides in mutations of the CD40 ligand gene. ZAP-70 deficiency is inherited in an autosomal recessive manner. Recurrent and opportunistic ... Primary immunodeficiency CD40LG (TNFSF5) [HSA:959] [KO:K03161]
CD40 [HSA:958] [KO:K03160]
PNP [HSA:4860] [KO:K03783]
CD8A [HSA:925] [KO:K06458]
(IMD6) IL2RG [HSA:3561] [KO:K05070]
(IMD9) ORAI1 [HSA:84876] [KO:K16056]
(IMD10) STIM1 [HSA:6786] [KO:K16059]
(IMD11) CARD11 [HSA:84433] [KO:K07367]
(IMD12) MALT1 [HSA:10892] [KO:K07369]
(IMD15) IKBKB [HSA:3551] [KO:K07209]
(IMD16) TNFRSF4 [HSA:7293] [KO:K05142]
(IMD17) CD3G [HSA:917] [KO:K06452]
(IMD22) LCK [HSA:3932] [KO:K05856]
(IMD24) CTPS1 [HSA:1503] [KO:K01937]
(IMD37) BCL10 [HSA:8915] [KO:K07368]
(IMD40) DOCK2 [HSA:1794] [KO:K12367]
(IMD48) ZAP70 [HSA:7535] [KO:K07360]
(IMD50) MSN [HSA:4478] [KO:K05763]
(IMD55) GINS1 [HSA:9837] [KO:K10732]
(IMD59) HYOU1 [HSA:10525] [KO:K09486]
(IMD85) TOM1 [HSA:10043] [KO:K26401]
(IMD97) PIK3CG [HSA:5294] [KO:K21289]
(IMD110) STK4 [HSA:6789] [KO:K04411]
(IMD112) MAP3K14 [HSA:9020] [KO:K04466]
H00097 WHIM syndrome ... receptor 4 (CXCR4). Leukocytes expressing truncated CXCR4 display enhanced responses to the receptor ligand CXCL12, including chemotaxis, which likely impair their trafficking and contribute to the immunohematologic ... Primary immunodeficiency (WHIMS1) CXCR4 [HSA:7852] [KO:K04189]
(WHIMS2) CXCR2 [HSA:3579] [KO:K05050]
H00099 Leukocyte adhesion deficiency ... leukocytes is normal, but the integrins fail to generate high avidity for their cognate endothelial-cell ligands. Mutations in the KINDLIN3 (official symbol FERMT3), a gene that encodes an intracellular protein ... Primary immunodeficiency ITGB2 [HSA:3689] [KO:K06464]
SLC35C1 [HSA:55343] [KO:K15279]
FERMT3 [HSA:83706] [KO:K17084]
RAC2 [HSA:5880] [KO:K07860]
H00103 Late complement pathway defects ... particularly susceptible to systemic infections with Neisseria meningitidies and N. gonorrhoeae. Infections are rarely fulminant but are often recurrent and frequently involve unusual serotypes of the organism. Primary immunodeficiency (C5D) C5 [HSA:727] [KO:K03994]
(C6D) C6 [HSA:729] [KO:K03995]
(C7D) C7 [HSA:730] [KO:K03996]
(C8D1) C8A [HSA:731] [KO:K03997]
(C8D2) C8B [HSA:732] [KO:K03998]
(C9D) C9 [HSA:735] [KO:K04000]
C8G [HSA:733] [KO:K03999]
H00107 Other well-defined immunodeficiency syndromes ... disorder characterized by lack of embryonic development or underdevelopment of the thymus and surrounding organs. The DGS is a member of a group of disorders that have in common a chromosome deletion involving ... Primary immunodeficiency WAS [HSA:7454] [KO:K05747]
TBX1 [HSA:6899] [KO:K10175]
STAT3 [HSA:6774] [KO:K04692]
TYK2 [HSA:7297] [KO:K11219]
SH2D1A [HSA:4068] [KO:K07990]
XIAP [HSA:331] [KO:K04725]
ITK [HSA:3702] [KO:K07363]
AIRE [HSA:326] [KO:K10603]
FOXP3 [HSA:50943] [KO:K10163]
RMRP [HSA:6023] [KO:K14576]
H00123 Mucopolysaccharidosis type IV ... degradation. The defect results in the accumulation of keratan sulfate and chondroitin sulfate in many organs, as well as elevated metabolite levels in urine. Common signs and symptoms include normal cognition ... Inherited metabolic disorder, Lysosomal disease (MPS4A) GALNS [HSA:2588] [KO:K01132]
(MPS4B) GLB1 [HSA:2720] [KO:K12309]
H00124 GM2 gangliosidoses GM2 gangliosidoses are a group of autosomal recessive lysosomal storage disorders caused by deficiency of beta-hexosaminiase or the noncatalytic GM2 activator in glycosphingolipid catabolism. The enzymatic ... Inherited metabolic disorder, Lysosomal disease (Type I) HEXA [HSA:3073] [KO:K12373]
(Type II) HEXB [HSA:3074] [KO:K12373]
(AB variant) GM2A [HSA:2760] [KO:K12383]
H00125 Fabry disease
Anderson-Fabry disease 		... Symptoms arise because of accumulation of glycosphingolipids -mainly globotriaosylceramide- in multiple organs. Fabry disease affects almost all organs. The most serious complications involve the kidneys, heart ... Inherited metabolic disorder, Lysosomal disease GLA [HSA:2717] [KO:K01189]
H00128 Mucopolysaccharidosis type I
Hurler-Scheie syndrome
Hurler syndrome
Scheie syndrome 		... degradation. The enzyme defect results in the accumulation of heparan sulfate and dermatan sulfate in many organs, as well as elevated metabolite levels in urine. Hurler syndrome is characterized by coarse faces ... Inherited metabolic disorder, Lysosomal disease (MPS1) IDUA [HSA:3425] [KO:K01217]
H00129 Mucopolysaccharidosis type II
Hunter syndrome 		... degradation. The enzyme defect results in the accumulation of heparan sulfate and dermatan sulfate in many organs, as well as elevated metabolite levels in urine. The heterogeneity of clinical phenotypes, ranging ... Inherited metabolic disorder, Lysosomal disease (MPS2) IDS [HSA:3423] [KO:K01136]
H00130 Mucopolysaccharidosis type III ... in glycosaminoglycan degradation. The defect results in the accumulation of heparan sulfate in many organs, as well as elevated metabolite levels in urine. Common signs and symptoms include mental retardation ... Inherited metabolic disorder, Lysosomal disease (MPS3A) SGSH [HSA:6448] [KO:K01565]
(MPS3B) NAGLU [HSA:4669] [KO:K01205]
(MPS3C) HGSNAT [HSA:138050] [KO:K10532]
(MPS3D) GNS [HSA:2799] [KO:K01137]
H00131 Mucopolysaccharidosis type VI
Maroteaux-Lamy syndrome 		... The enzyme defect results in the accumulation of dermatan sulfate and chondroitin 4-sulfate in many organs, as well as elevated metabolite levels in urine. This disorder is characterized by normal cognition ... Inherited metabolic disorder, Lysosomal disease (MPS6) ARSB [HSA:411] [KO:K01135]
H00137 Niemann-Pick disease type A/B ... sphingomyelinase (ASM) activity, resulting in accumulation of sphingomyelin and cholesterol in many organs. ASM plays an important role in normal membrane turnover and is one of the key enzymes responsible ... Inherited metabolic disorder, Lysosomal disease SMPD1 [HSA:6609] [KO:K12350]
H00139 alpha-Mannosidosis ... catabolism. The enzymatic defect results in the accumulation of mannose-rich oligosaccharides in many organs. Alpha-mannosidosis is characterized by immune deficiency, facial and skeletal abnormalities, hearing ... Inherited metabolic disorder, Lysosomal disease MAN2B1 [HSA:4125] [KO:K12311]
H00141 Fucosidosis ... accumulation of a variety of fucose-rich storage products of glycoproteins and glycolipids in many organs. The disease is classified into two types: type 1 for severe phenotypes and type 2 for milder phenotypes Inherited metabolic disorder, Lysosomal disease FUCA1 [HSA:2517] [KO:K01206]
H00142 Sialidosis
Mucolipidosis I 		... enzymatic defect results in the accumulation of sialidated glycopeptides and oligosaccharides in many organs. The disease is classified into two types: type 1 for the mild form with late-onset and type 2 for ... Inherited metabolic disorder, Lysosomal disease NEU1 [HSA:4758] [KO:K01186]
H00144 Mucolipidosis IV ... accumulate enlarged vacuolar structures containing phospholipids, sphingolipids, mucopolysaccharides, and gangliosides. Accumulation of lipids results from defects in membrane transport along the late endocytic ... Inherited metabolic disorder, Lysosomal disease MCOLN1 [HSA:57192] [KO:K04992]
H00145 Aspartylglucosaminuria ... glycoproteins. The enzymatic defect results in inappropriate accumulation of aspartylglucosamines in various organ systems as well as elevated metabolite levels in urine. The main symptoms of aspartylglucosaminuria ... Inherited metabolic disorder, Lysosomal disease AGA [HSA:175] [KO:K01444]
H00146 Alpha-N-acetylgalactosaminidase deficiency ... (primarily O-linked). The enzymatic defect results in inappropriate accumulation of substrates in various organ systems. NAGA deficiency is divided into three types. Type 1 is Schindler disease, characterized ... Inherited metabolic disorder, Lysosomal disease NAGA [HSA:4668] [KO:K01204]
H00166 Hermansky-Pudlak syndrome Hermansky-Pudlak syndrome (HPS) is a group of autosomal recessive disorders caused by defects in lysosome-related organelles and characterized by albinism and prolonged bleeding. Inherited metabolic disorder (HPS1) HPS1 [HSA:3257] [KO:K20193]
(HPS2) AP3B1 [HSA:8546] [KO:K12397]
(HPS3) HPS3 [HSA:84343] [KO:K20190]
(HPS4) HPS4 [HSA:89781] [KO:K20194]
(HPS5) HPS5 [HSA:11234] [KO:K20191]
(HPS6) HPS6 [HSA:79803] [KO:K20192]
(HPS7) DTNBP1 [HSA:84062] [KO:K20189]
(HPS8) BLOC1S3 [HSA:388552] [KO:K20186]
(HPS9) BLOC1S6 [HSA:26258] [KO:K20188]
(HPS10) AP3D1 [HSA:8943] [KO:K12396]
(HPS11) BLOC1S5 [HSA:63915] [KO:K20187]
H00180 Holocarboxylase synthetase deficiency
Multiple carboxylase deficiency 		... methylcrotonyl-CoA carboxylase, and acetyl-CoA carboxylase. Symptoms of HLCS deficiency include metabolic acidosis, a characteristic organic aciduria, lethargy, hypotonia, convulsions, and dermatitis. Inherited metabolic disorder HLCS [HSA:3141] [KO:K01942]
H00203 Acatalasemia
Takahara disease 		... Hungarian types of acatalasemia display differences in biochemical and genetic aspects. Takahara's disease shows progressive oral gangrene and formerly occurred in about half of Japanese acatalasemia patients. Inherited metabolic disorder CAT [HSA:847] [KO:K03781]
H00208 Hyperbilirubinemia ... export pump. Rotor syndrome (RS) is caused by mutations in the SLCO1B1 and SLCO1B3 genes that encode organic anion transporters. In both DJS and RS, mild jaundice begins shortly after birth or in childhood ... Inherited metabolic disorder (CN1, CN2) UGT1A1 [HSA:54658] [KO:K00699]
(DJS) ABCC2 [HSA:1244] [KO:K05666]
(RS) SLCO1B1 [HSA:10599] [KO:K05043]
(RS) SLCO1B3 [HSA:28234] [KO:K05043]
H00214 Hypophosphatemic rickets ... D resistant rickets, is a group of genetic disorders characterized by defective reabsorption of inorganic phosphorus by the renal tubules resulting in hypophosphatemia and rickets associated with mineralization ... Inherited metabolic disorder (XLHR) PHEX [HSA:5251] [KO:K08636]
(XLRH) CLCN5 [HSA:1184] [KO:K05012]
(ADHR) FGF23 [HSA:8074] [KO:K22428]
(ARHR1) DMP1 [HSA:1758] [KO:K23328]
(ARHR2) ENPP1 [HSA:5167] [KO:K01513]
(HHRH) SLC34A3 [HSA:142680] [KO:K14683]
H00234 Pelger-Huet anomaly Pelger-Huet anomaly (PHA) is an autosomal dominant disorder characterized by abnormal nuclear shape and chromatin organization in blood granulocytes with skeletal abnormalities. Hematologic disease LBR [HSA:3930] [KO:K19532]
H00247 Multiple endocrine neoplasia syndrome
Wermer syndrome
Sipple syndrome 		... association with marfanoid habitus, mucosal neuromas, medullated corneal fibers and intestinal autonomic ganglion dysfunction, leading to megacolon. MEN4, also referred to as MENX, appears to have signs and ... Cancer (MEN1) MEN1 [HSA:4221] [KO:K14970]
(MEN2A MEN2B) RET [HSA:5979] [KO:K05126]
(MEN4) CDKN1B [HSA:1027] [KO:K06624]
H00249 Thyroid hormone resistance syndrome ... which inherits in either autosomal dominant or recessive manner, is characterized by reduced end-organ responsiveness to thyroid hormone. It is caused by mutations in the gene of thyroid hormone receptor ... Endocrine and metabolic disease THRB [HSA:7068] [KO:K08362]
H00281 GM1 gangliosidosis GM1-gangliosidosis is an autosomal recessive lysosomal storage disorder caused by deficient beta-galactosidase activity. The enzymatic defect results in the accumulation of GM1 ganglioside in nervous tissues ... Inherited metabolic disorder, Lysosomal disease GLB1 [HSA:2720] [KO:K12309]
H00286 Crohn disease ... that the NOD2 polymorphisms impair NF-kappaB activation and cytokine secretion in response to its ligand. The pathogenesis of Crohn's disease is also attributed to intestinal bacteria that may initiate ... Immune system disease (IBD1) NOD2 [HSA:64127] [KO:K10165]
(IBD1) IL6 [HSA:3569] [KO:K05405]
(IBD10) ATG16L1 [HSA:55054] [KO:K17890]
(IBD17) IL23R [HSA:149233] [KO:K05065]
(IBD19) IRGM [HSA:345611] [KO:K14139]
(IBD25) IL10RB [HSA:3588] [KO:K05135]
(IBD28) IL10RA [HSA:3587] [KO:K05134]
H00287 Pyogenic sterile arthritis, pyoderma gangrenosum, and acne syndrome Pyogenic sterile arthritis, pyoderma gangrenosum, and acne (PAPA) syndrome is a rare autoimflammatory disease with early onset, developing erosive arthritis. It is inherited in an autosomal dominant fashion ... Immune system disease PSTPIP1 [HSA:9051] [KO:K12804]
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