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Entry Name Description Category Pathway Gene
H00021 Renal cell carcinoma ... growth factor. Activated MET mediates a number of biological effects including motility, invasion of extracellular matrix, cellular transformation, prevention of apoptosis and metastasis formation. Loss of ... Cancer hsa05211 Renal cell carcinoma PRCC-TFE3 (translocation) [HSA:5546 7030] [KO:K13105 K09105]
VHL (germline mutation (VHL disease), somatic mutation) [HSA:7428] [KO:K03871]
MET (germline activating mutation (HPRC), somatic activating mutation) [HSA:4233] [KO:K05099]
FH (germline loss-of-function mutation (HLPCC), LOH, somatic mutation) [HSA:2271] [KO:K01679]
FLCN (germline mutation (Birt-Hogg-Dube syndrome)) [HSA:201163] [KO:K09594]
HNF1A [HSA:6927] [KO:K08036]
OGG1 [HSA:4968] [KO:K03660]
PBRM1 [HSA:55193] [KO:K11757]
H00022 Bladder cancer The urothelium covers the luminal surface of almost the entire urinary tract, extending from the renal pelvis, through the ureter and bladder, to the proximal urethra. The majority of urothelial carcinoma ... Cancer hsa05219 Bladder cancer H-ras (activating mutation) [HSA:3265] [KO:K02833]
FGFR3 (activating mutation) [HSA:2261] [KO:K05094]
p16/INK4A (homozygous deletion or hypermethylation) [HSA:1029] [KO:K06621]
p53 (inactivating mutation or deletion) [HSA:7157] [KO:K04451]
RB1 (deletion or hyperphosphorylation) [HSA:5925] [KO:K06618]
EGFR (overexpression) [HSA:1956] [KO:K04361]
ERBB2 (overexpression) [HSA:2064] [KO:K05083]
RASSF1 (hypermethylation) [HSA:11186] [KO:K09850]
DAPK1 (hypermethylation) [HSA:1612] [KO:K08803]
H00057 Parkinson disease ... pathogenic mutations and environmental factors are known to cause disease due to oxidative stress, intracellular Ca2+ homeostasis impairment, mitochondrial dysfunctions and altered protein handling compromising ... 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]
H00061 Prion disease
Creutzfeldt-Jacob disease (CJD)
Gerstmann-Straussler disease (GSD)
Gerstmann-Straussler-Scheinker disease (GSSD)
Fatal familial insomnia (FFI) 		... greater protease resistance than PrPC and accumulates in affected individuals, often in the form of extracellular plaques. Pathways that may lead to neuronal death comprise oxidative stress, regulated activation ... Neurodegenerative disease hsa05020 Prion disease PRNP (mutation) [HSA:5621] [KO:K05634]
H00062 Spinal and bulbar muscular atrophy (SBMA)
Kennedy disease 		... expansion of CAG trinucleotide repeats in the first exon of the androgen receptor gene. The expansion of encoded polyglutamine tracts results in protein aggregation and is associated with neuronal cell death. Neurodegenerative disease (SMAX1) AR (CAG repeat expansion) [HSA:367] [KO:K08557]
H00064 Ataxia telangiectasia
Louis-Bar syndrome
Boder-Sedgwick syndrome 		... product of the causative gene ATM is a 350 kDa protein of the phosphatidylinositol 3-kinase family that is involved in mitogenic signal transduction, intracellular protein transport, and cell cycle control. Immune system disease; Nervous system disease (AT) ATM [HSA:472] [KO:K04728]
H00089 IFN-gamma/IL-12 axis
Mendelian susceptibility to mycobacterial disease (MSMD) 		The interferon-gamma-interleukin-12 axis is critical for defense against intracellular microbes such as mycobacteria, salmonella, and listeria. Mutations in either chain of the IFN-gammaR lead to severe ... Primary immunodeficiency (IMD27) IFNGR1 [HSA:3459] [KO:K05132]
(IMD28) IFNGR2 [HSA:3460] [KO:K05133]
(IMD29) IL12B [HSA:3593] [KO:K05425]
(IMD30) IL12RB1 [HSA:3594] [KO:K05063]
(IMD31) STAT1 [HSA:6772] [KO:K11220]
(IMD32) IRF8 [HSA:3394] [KO:K10155]
(IMD33) IKBKG [HSA:8517] [KO:K07210]
(IMD34) CYBB [HSA:1536] [KO:K21421]
(IMD38) ISG15 [HSA:9636] [KO:K12159]
(IMD42) RORC [HSA:6097] [KO:K08534]
H00090 NK cell defects ... FcgRIIIa, has been identified. He was a 3-year-old boy, and suffered from recurrent viral respiratory tract infections since birth. CD16 is part of the FcgRIII found on NK cells as well as macrophages and ... Primary immunodeficiency FCGR3A [HSA:2214] [KO:K06463]
H00099 Leukocyte adhesion deficiency ... endothelial-cell ligands. Mutations in the KINDLIN3 (official symbol FERMT3), a gene that encodes an intracellular protein that interacts with cytoplasmic tails of beta-integrins in hematopoietic cells, is ... Primary immunodeficiency ITGB2 [HSA:3689] [KO:K06464]
SLC35C1 [HSA:55343] [KO:K15279]
FERMT3 [HSA:83706] [KO:K17084]
RAC2 [HSA:5880] [KO:K07860]
H00106 Complement regulatory protein defects ... Factor I is an unusual feature. Factor I-deficient patients present high susceptibility to respiratory tract infections and meningitis. Kidney impairment and autoimmune disorders have also been observed. ... Primary immunodeficiency SERPING1 [HSA:710] [KO:K04001]
C4BPA [HSA:722] [KO:K04002]
C4BPB [HSA:725] [KO:K04003]
CFI [HSA:3426] [KO:K01333]
CD55 [HSA:1604] [KO:K04006]
CD59 [HSA:966] [KO:K04008]
H00107 Other well-defined immunodeficiency syndromes ... atopic dermatitis associated with extremely high serum IgE levels and susceptibility to infections with extracellular bacteria. Dominant-negative mutations in the signal transducer and activator of transcription ... 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]
H00109 Familial hemophagocytic lymphohistiocytosis ... FHPL associated gene on chromosome 6q24 with mutations in STX11 was identified. The encoded protein, t-SNARE syntaxin 11, also plays a role in intracellular trafficking, but its precise role is not known. Primary immunodeficiency (FHL2) PRF1 [HSA:5551] [KO:K07818]
(FHL3) UNC13D [HSA:201294] [KO:K19728]
(FHL4) STX11 [HSA:8676] [KO:K08487]
(FHL5) STXBP2 [HSA:6813] [KO:K15300]
(FHL6) RC3H1 [HSA:149041] [KO:K15690]
H00149 Neuronal ceroid lipofuscinosis ... lipofuscinosis (NCL) is a group of severe neurodegenerative lysosomal storage diseases characterized by intracellular accumulation of ceroid lipofuscin in neurons. NCLs share similar symptoms and signs such ... Inherited metabolic disorder, Lysosomal disease (CLN1) PPT1 [HSA:5538] [KO:K01074]
(CLN2) TPP1 [HSA:1200] [KO:K01279]
(CLN3) CLN3 [HSA:1201] [KO:K12389]
(CLN4A/6) CLN6 [HSA:54982] [KO:K12359]
(CLN4B) DNAJC5 [HSA:80331] [KO:K09525]
(CLN5) CLN5 [HSA:1203] [KO:K12390]
(CLN7) MSFD8 [HSA:256471] [KO:K12307]
(CLN8) CLN8 [HSA:2055] [KO:K12360]
(CLN10) CTSD [HSA:1509] [KO:K01379]
(CLN11) GRN [HSA:2896] [KO:K23879]
(CLN12) ATP13A2 [HSA:23400] [KO:K13526]
(CLN13) CTSF [HSA:8722] [KO:K01373]
(CLN14) KCTD7 [HSA:154881] [KO:K21917]
H00241 Combined proximal and distal renal tubular acidosis (RTA type 3) Renal tubular acidosis (RTA) is characterized by metabolic acidosis, a severe disturbance of extracellular pH homeostasis, due to renal impaired acid excretion. RTA type 3 is a mixed type that shares the ... Urinary system disease CA2 [HSA:760] [KO:K18245]
H00243 Hyperkalemic distal renal tubular acidosis (RTA type 4) Renal tubular acidosis (RTA) is characterized by metabolic acidosis, a severe disturbance of extracellular pH homeostasis, due to renal impaired acid excretion. Type 4 RTA is a heterogeneous group of disorders ... Urinary system disease (PHA1A) NR3C2 [HSA:4306] [KO:K08555]
(PHA1B1) SCNN1A [HSA:6337] [KO:K04824]
(PHA1B2) SCNN1B [HSA:6338] [KO:K04825]
(PHA1B3) SCNN1G [HSA:6340] [KO:K04827]
(PHA2B) WNK4 [HSA:65266] [KO:K08867]
(PHA2C) WNK1 [HSA:65125] [KO:K08867]
(PHA2D) KLHL3 [HSA:26249] [KO:K10443]
(PHA2E) CUL3 [HSA:8452] [KO:K03869]
H00275 Cystinosis ... recessive lysosomal storage disorder caused by deficiency of lysosomal cystine transporter, which leads to intracellular cystine crystals, widespread cellular destruction, renal Fanconi syndrome in infancy, renal ... Inherited metabolic disorder, Lysosomal disease CTNS [HSA:1497] [KO:K12386]
H00277 Enterohemorrhagic Escherichia coli (EHEC) infection Enterohemorrhagic Escherichia coli (EHEC) infection is typically contracted through consumption of contaminated food or contact with contaminated water, animal feces or infected animals. EHEC is also referred ... Bacterial infectious disease hsa05130 Pathogenic Escherichia coli infection
H00279 Uropathogenic Escherichia coli (UPEC) infection ... potentially severe complications. UPEC, the most common etiological agent of community-acquired urinary tract infections (UTIs), accounts for >80% of UTI infections worldwide. Once inside the urinary tract ... Bacterial infectious disease
H00286 Crohn disease ... ileum. Most patients have involvement of the small intestine, but the other area of gastrointestinal tract may also be affected. In Western populations, over 50% of patients possess NOD2 mutations. Evidence ... 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]
H00290 Aicardi-Goutieres syndrome ... is lethal in ~40% of cases. It can be caused by mutations in the following genes, TREX1, RNaseH2 and SAMHD1 that lead to excessive intracellular accumulation of DNA and abnormal type I IFN metabolism. Immune system disease (AGS1) TREX1 [HSA:11277] [KO:K10790]
(AGS2) RNASEH2B [HSA:79621] [KO:K10744]
(AGS3) RNASEH2C [HSA:84153] [KO:K10745]
(AGS4) RNASEH2A [HSA:10535] [KO:K10743]
(AGS5) SAMHD1 [HSA:25939] [KO:K22544]
(AGS6) ADAR [HSA:103] [KO:K12968]
(AGS7) IFIH1 [HSA:64135] [KO:K12647]
(AGS8) LSM11 [HSA:134353] [KO:K25592]
(AGS9) RNU7-1 [HSA:100147744]
H00294 Dilated cardiomyopathy Dilated cardiomyopathy (DCM) is a heart muscle disease characterised by dilation and impaired contraction of the left or both ventricles that results in progressive heart failure and sudden cardiac death ... Cardiovascular disease hsa05414 Dilated cardiomyopathy (CMD1A) LMNA [HSA:4000] [KO:K12641]
(CMD1C) LDB3 [HSA:11155] [KO:K19867]
(CMD1D) TNNT2 [HSA:7139] [KO:K12045]
(CMD1E) SCN5A [HSA:6331] [KO:K04838]
(CMD1G) TTN [HSA:7273] [KO:K12567]
(CMD1I) DES [HSA:1674] [KO:K07610]
(CMD1J) EYA4 [HSA:2070] [KO:K17622]
(CMD1L) SGCD [HSA:6444] [KO:K12563]
(CMD1M) CSRP3 [HSA:8048] [KO:K09377]
(CMD1N) TCAP [HSA:8557] [KO:K19879]
(CMD1O) ABCC9 [HSA:10060] [KO:K05033]
(CMD1P) PLN [HSA:5350] [KO:K05852]
(CMD1R) ACTC1 [HSA:70] [KO:K12314]
(CMD1S) MYH7 [HSA:4625] [KO:K17751]
(CMD1U) PSEN1 [HSA:5663] [KO:K04505]
(CMD1V) PSEN2 [HSA:5664] [KO:K04522]
(CMD1W) VCL [HSA:7414] [KO:K05700]
(CMD1X) FKTN [HSA:2218] [KO:K19872]
(CMD1Y) TPM1 [HSA:7168] [KO:K10373]
(CMD1Z) TNNC1 [HSA:7134] [KO:K05865]
(CMD1AA) ACTN2 [HSA:88] [KO:K21073]
(CMD1BB) DSG2 [HSA:1829] [KO:K07597]
(CMD1CC) NEXN [HSA:91624] [KO:K23918]
(CMD1DD) RBM20 [HSA:282996] [KO:K24052]
(CMD1EE) MYH6 [HSA:4624] [KO:K17751]
(CMD1FF/CMD2A) TNNI3 [HSA:7137] [KO:K12044]
(CMD1GG) SDHA [HSA:6389] [KO:K00234]
(CMD1HH) BAG3 [HSA:9531] [KO:K09557]
(CMD1II) CRYAB [HSA:1410] [KO:K09542]
(CMD1JJ) LAMA4 [HSA:3910] [KO:K06241]
(CMD1KK) MYPN [HSA:84665] [KO:K22028]
(CMD1LL) PRDM16 [HSA:63976] [KO:K22410]
(CMD1MM) MYBPC3 [HSA:4607] [KO:K12568]
(CMD1NN) RAF1 [HSA:5894] [KO:K04366]
(CMD1OO) VEZF1 [HSA:7716] [KO:K26610]
(CMD2B) GATAD1 [HSA:57798] [KO:K23407]
(CMD2C) PPCS [HSA:79717] [KO:K01922]
(CMD2D) RPL3L [HSA:6123] [KO:K02925]
(CMD2E) JPH2 [HSA:57158] [KO:K19530]
(CMD2F) BAG5 [HSA:9529] [KO:K09559]
(CMD2G) LMOD2 [HSA:442721] [KO:K22030]
(CMD2H) GET3 [HSA:439] [KO:K01551]
(CMD2I) CAP2 [HSA:10486] [KO:K17261]
(CMD2J) FLII [HSA:2314] [KO:K27496]
(CMD3B) DMD [HSA:1756] [KO:K10366]
(BTHS) TAZ [HSA:6901] [KO:K13511]
HLA-DRB1 [HSA:3123] [KO:K06752]
HLA-DPA1 [HSA:3113] [KO:K06752]
HLA-DPB1 [HSA:3115] [KO:K06752]
HLA-DQA1 [HSA:3117] [KO:K06752]
HLA-DQB1 [HSA:3119] [KO:K06752]
H00300 Enterobacter infection ... produce constitutive chromosome AmpC beta-lactamase. Enterobacter spp. are recovered from the respiratory tract, surgical wounds, urinary tract, and blood and are implicated in a broad range of clinical syndromes Bacterial infectious disease
H00301 Klebsiella infection ... genes to other antibiotics including aminoglycosides, chloramphenicol, sulfonamides, trimethoprim, and tetracycline. Thus, Gram-negative bacilli containing these plasmids are multidrug-resistant. Klebsiella ... Bacterial infectious disease
H00309 Multidrug-resistant Acinetobacter infection ... nosocomial pathogen in hospitalized patients. It can cause bacteremia, pneumonia, meningitis, urinary tract infection, wound infection, and nosocomial infections. Isolates resistant to almost all commercially ... Bacterial infectious disease
H00310 Q fever Q fever is a worldwide zoonosis caused by Coxiella burnetii, a gram-negative obligate intracellular bacterium. This infection has many different reservoirs that mainly consist of dairy cattle. Infection ... Bacterial infectious disease
H00314 Meningococcal infection ... specifically infects humans. It is a frequent asymptomatic colonizer of the human upper respiratory tract, and most adults are resistant to infection through acquired immunity. In susceptible individuals ... Bacterial infectious disease
H00321 Campylobacter infection
Campylobacteriosis 		... commonly caused by Campylobacter jejuni. Campylobacter is a commensal microorganism of the gastrointestinal tract of many wild animals, farm animals, and companion animals, and it is responsible for zoonoses. ... Bacterial infectious disease
H00323 Spotted fever
Tick-borne rickettsioses 		Tick-borne rickettsioses are caused by gram-negative obligate intracellular bacteria belonging to the spotted fever group (SFG) of the genus Rickettsia within the family Rickettsiaceae in the order Rickettsiales ... Bacterial infectious disease
H00324 Scrub typhus ... also known as tsutsugamushi disease, is a zoonosis caused by Orientia tsutsugamushi, an obligate intracellular bacterium that is transmitted by the Leptotrombidium species mite. The disease is confined ... Bacterial infectious disease
H00327 Trench fever Trench fever is a disease caused by the facultative intracellular gram-negative bacterium Bartonella quintana. It affected several million people worldwide during the two world wars. The incidence of trench ... Bacterial infectious disease
H00330 Methicillin-resistant Staphylococcal aureus (MRSA) infection ... multiple antibiotics. Health care-associated MRSA (HA-MRSA) is usually associated with pneumonia, urinary tract, blood stream, and surgical wound infections. In contrast, CA-MRSA strains are overwhelmingly associated ... Bacterial infectious disease hsa05150 Staphylococcus aureus infection
H00334 Bacterial endocarditis
Infective endocarditis 		... streptococci account for 80% of cases of infective endocarditis, with staphylococci currently the most common pathogens. Cerebral complications are the most frequent and most severe extracardiac complications. Bacterial infectious disease
H00340 Vancomycin-resistant enterococci infection ... with low intrinsic virulence that constitute the normal colonizing flora of the human gastrointestinal tract. Vancomycin-resistant enterococci (VRE) are among the most common antimicrobial-resistant pathogens ... Bacterial infectious disease
H00341 Mycoplasma pneumonia ... pneumoniae is a member of the family Mycoplasmataceae that causes both the upper and the lower respiratory tract infection both endemically and epidemically worldwide. Most infections are mild, but a small proportion ... Bacterial infectious disease
H00344 Leprosy
Hansen disease 		... Mycobacterium leprae (M. leprae) and the more recently discovered Mycobacterium lepromatosis (M. lepromatosis). It primarily affects peripheral nerves, skin and mucosa particularly the upper respiratory tract. Bacterial infectious disease (LPRS3) TLR2 [HSA:7097] [KO:K10159]
(LPRS4) LTA [HSA:4049] [KO:K05468]
(LPRS5) TLR1 [HSA:7096] [KO:K05398]
H00347 Chlamydia infection Chlamydia trachomatis is a gram-negative, obligate intracellular bacterium that causes the most common sexually transmissible diseases in the world. Chlamydial infection can cause cervicitis in women and ... Bacterial infectious disease
H00348 Lymphogranuloma venereum Chlamydia trachomatis is a gram-negative, obligate intracellular bacterium that causes the most common sexually transmissible diseases in the world. Serovars L1, L2, L2a and L3 of C. trachomatis are the ... Bacterial infectious disease
H00349 Trachoma Trachoma is the leading infectious cause of blindness worldwide. Infections with serovars A, B, Ba, and C of Chlamydia trachomatis cause chronic keratoconjunctivitis in children with subsequent scarring ... Bacterial infectious disease
H00350 Psittacosis
Parrot fever 		... known as parrot disease, is an infectious disease caused by Chlamydophila psittaci, a gram-negative intracellular bacterium that is usually transmitted to humans from birds. Symptoms typically include high ... Bacterial infectious disease
H00351 Chlamydial pneumonia Chlamydophila (Cp.) pneumoniae is an obligate intracellular bacteria that causes human respiratory infections. Most acute respiratory infections are asymptomatic or mildly symptomatic. Repeated or prolonged ... Bacterial infectious disease
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