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Entry Name Description Category Pathway Gene
H00001 B-cell acute lymphoblastic leukemia
B-cell acute lymphocytic leukemia 		Acute lymphocytic leukemia (ALL) is a clonal stem cell malignancy of excessive lymphoblast proliferation. It is now understood that ALL and lymphoblastic lymphoma are the same disease entities at the morphologic ... Cancer BCR-ABL (translocation) [HSA:25] [KO:K06619]
MLL-AF4 (translocation) [HSA:4297 4299] [KO:K09186 K15184]
E2A-PBX1 (translocation) [HSA:6929 5087] [KO:K09063 K09355]
TEL-AML1 (translocation) [HSA:861] [KO:K08367]
c-MYC (rearrangement) [HSA:4609] [KO:K04377]
CRLF2 (rearrangement) [HSA:64109] [KO:K05078]
PAX5 (rearrangement) [HSA:5079] [KO:K09383]
H00002 T-cell acute lymphoblastic leukemia
T-cell acute lymphocytic leukemia 		Acute lymphocytic leukemia (ALL) is a clonal stem cell malignancy of excessive lymphoblast proliferation. It is now understood that ALL and lymphoblastic lymphoma are the same disease entities at the morphologic ... Cancer NOTCH1 (mutation) [HSA:4851] [KO:K02599]
TAL1 (overexpression) [HSA:6886] [KO:K09068]
TAL2 [HSA:6887] [KO:K09068]
LYL1 (expression) [HSA:4066] [KO:K15604]
MLL-ENL (translocation) [HSA:4297] [KO:K09186]
HOX11 (translocation) [HSA:3195] [KO:K09340]
MYC (translocation) [HSA:4609] [KO:K04377]
LMO2 (translocation) [HSA:4005] [KO:K15612]
HOX11L2 (translocation) [HSA:30012] [KO:K15607]
PICALM-MLLT10 (translocation) [HSA:8028] [KO:K23588]
H00008 Burkitt lymphoma ... associated with HIV-infection in adults. All of these subtypes possess chromosomal rearrangements of the c-myc oncogene, the genetic hallmark of BL that contributes to lymphomagenesis through alterations in cell ... Cancer MYC-IgH (translocation) [HSA:4609] [KO:K04377]
p53 (mutation) [HSA:7157] [KO:K04451]
p16/INK4A (promoter methylation) [HSA:1029] [KO:K06621]
H00010 Multiple myeloma ... suppressor gene. Additional molecular events include epigenetic changes and activation of oncogenes (mutations of N-RAS and K-RAS, and changes in c-MYC), which are usually associated with disease progression. Cancer CCND1-IgH (translocation) [HSA:595] [KO:K04503]
CCND3-IgH (translocation) [HSA:896] [KO:K10152]
IgH-FGFR3 (translocation) [HSA:2261] [KO:K05094]
IgH-MMSET (translocation) [HSA:7468] [KO:K11424]
IgH-MAF (translocation) [HSA:4094] [KO:K09035]
N-ras (activating mutation) [HSA:4893] [KO:K07828]
K-ras (activating mutation) [HSA:3845] [KO:K07827]
c-MYC (dysregulation) [HSA:4609] [KO:K04377]
p53 (mutation) [HSA:7157] [KO:K04451]
H00013 Small cell lung cancer ... all lung cancer cases. Molecular mechanisms altered in SCLC include induced expression of oncogene, MYC, and loss of tumorsuppressor genes, such as p53, PTEN, RB, and FHIT. The overexpression of MYC proteins ... Cancer hsa05222 Small cell lung cancer MYC (amplification) [HSA:4609] [KO:K04377]
BCL2 (overexpression) [HSA:596] [KO:K02161]
FHIT [HSA:2272] [KO:K01522]
TP53 [HSA:7157] [KO:K04451]
RB1 [HSA:5925] [KO:K06618]
PTEN [HSA:5728] [KO:K01110]
PPP2R1B [HSA:5519] [KO:K03456]
H00016 Oral cancer Oral cancer refers to a subgroup of head and neck malignancies that develop at the lips, tongue, salivary glands, gingiva, floor of the mouth, oropharynx, buccal surfaces and other intra-oral locations ... Cancer p53 (mutation, deletion) [HSA:7157] [KO:K04451]
p16/INK4A (mutation, loss of expression) [HSA:1029] [KO:K06621]
EGFR (overexpression) [HSA:1956] [KO:K04361]
c-myc/N-myc (amplification, overexpression) [HSA:4609] [KO:K04377]
N-ras (amplification) [HSA:4893] [KO:K07828]
K-ras (amplification) [HSA:3845] [KO:K07827]
Cyclin D1 (amplification) [HSA:595] [KO:K04503]
STAT-3 (expression) [HSA:6774] [KO:K04692]
H00025 Penile cancer ... 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. These alterations have been ... 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]
H00027 Ovarian cancer Ovarian cancer is the sixth most common cancer and the fifth leading cause of cancer-related death among women in developed countries. Approximately 90% of human ovarian cancer arises within the ovarian ... Cancer BRCA1 (germline mutation / deletion) [HSA:672] [KO:K10605]
BRCA2 (germline mutation / deletion) [HSA:675] [KO:K08775]
MSH2 (germline mutation) [HSA:4436] [KO:K08735]
MLH1 (germline mutation) [HSA:4292] [KO:K08734]
ERBB2 (amplification / overexpression) [HSA:2064] [KO:K05083]
K-ras (mutation) [HSA:3845] [KO:K07827]
AKT2 (amplification) [HSA:208] [KO:K04456]
PIK3CA (amplification) [HSA:5290] [KO:K00922]
c-MYC (overexpression) [HSA:4609] [KO:K04377]
p53 (mutation / deletion, overexpression) [HSA:7157] [KO:K04451]
CTNNB1 [HSA:1499] [KO:K02105]
PRKN [HSA:5071] [KO:K04556]
OPCML [HSA:4978] [KO:K06773]
AKT1 [HSA:207] [KO:K04456]
CDH1 [HSA:999] [KO:K05689]
H00028 Choriocarcinoma ... p53 protein and the p53-associated protein, MDM2, have been detected. Synergistic upregulation of c-MYC, c-ERB-2, c-FMS, and BCL-2 oncoproteins have also been suggested to have an important role in the ... Cancer p53 (overexpression) [HSA:7157] [KO:K04451]
MdM2 (overexpression) [HSA:4193] [KO:K06643]
EGFR (overexpression) [HSA:1956] [KO:K04361]
c-MYC (overexpression) [HSA:4609] [KO:K04377]
ERBB2 (overexpression) [HSA:2064] [KO:K05083]
c-FMS (overexpression) [HSA:1436] [KO:K05090]
Bcl-2 (overexpression) [HSA:596] [KO:K02161]
MMP-1 (overexpression) [HSA:4312] [KO:K01388]
MMP-2 (overexpression) [HSA:4313] [KO:K01398]
H00036 Osteosarcoma ... MDM2 gene and the flanking SAS gene, plays an important role in the biology of these tumors. Alterations of Rb1 and c-myc are also common, and mutations have been reported in p53, p16INK4A, and CDKN2B. Cancer MDM2 (amplification) [HSA:4193] [KO:K06643]
TSPAN31 (amplification) [HSA:6302] [KO:K17356]
MYC (amplification) [HSA:4609] [KO:K04377]
TP53 [HSA:7157] [KO:K04451]
RB1 [HSA:5925] [KO:K06618]
CDKN2A [HSA:1029] [KO:K06621]
CDKN2B [HSA:1030] [KO:K04685]
CHEK2 [HSA:11200] [KO:K06641]
H00041 Kaposi sarcoma ... KS progression occurs upon the deregulated expression of anti-apoptotic genes (Bcl-2), oncogenes (c-myc, c-int, ras) and oncosuppressor genes (TP53), and is associated with the long-lasting expression ... Cancer; Viral infectious disease hsa05167 Kaposi sarcoma-associated herpesvirus infection BCL2 (overexpression) [HSA:596] [KO:K02161]
MYC (overexpression) [HSA:4609] [KO:K04377]
FGF3 (overexpression, mutation) [HSA:2248] [KO:K04358]
KRAS (overexpression, mutation) [HSA:3845] [KO:K07827]
TP53 [HSA:7157] [KO:K04451]
H00043 Neuroblastoma ... structural changes, including deletions of 1p or 11q, unbalanced gain of 17q and/or amplification of the MYCN protooncogene. They might also express the TrkB neurotrophin receptor and its ligand, brain-derived ... 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]
H00045 Pancreatic neuroendocrine tumor ... Associated Protein/Mental Retardation Syndrome X-Linked Genes) and the mTOR pathway (Mammalian Target of Rapamycin). A germline mutation in the MEN1 tumor suppressor gene causes MEN1, the above-mentioned autosomal ... Cancer MEN1 [HSA:4221] [KO:K14970]
DAXX [HSA:1616] [KO:K02308]
ATRX [HSA:546] [KO:K10779]
H00048 Hepatocellular carcinoma
Liver cancer 		... Wnt/beta-catenin pathway (CTNNB1 and AXIN1), the phosphatidylinositol-3 kinase (PI3K)/AKT/mammalian target of rapamycin (mTOR) pathway. Recent studies using whole-exome sequencing have revealed recurrent mutations in ... Cancer hsa05225 Hepatocellular carcinoma TGFA (overexpression) [HSA:7039] [KO:K08774]
IGF2 (overexpression) [HSA:3481] [KO:K13769]
IGF1R (overexpression) [HSA:3480] [KO:K05087]
TERT (overexpression) [HSA:7015] [KO:K11126]
FZD7 (overexpression) [HSA:8324] [KO:K02432]
HGF (overexpression) [HSA:3082] [KO:K05460]
MET (mutation, overexpression) [HSA:4233] [KO:K05099]
MYC (amplification) [HSA:4609] [KO:K04377]
RB1 (loss) [HSA:5925] [KO:K06618]
CDKN2A (deletion) [HSA:1029] [KO:K06621]
TGFBR2 (reduced expression) [HSA:7048] [KO:K04388]
TP53 [HSA:7157] [KO:K04451]
PTEN [HSA:5728] [KO:K01110]
CTNNB1 [HSA:1499] [KO:K02105]
AXIN1 [HSA:8312] [KO:K02157]
KEAP1 [HSA:9817] [KO:K10456]
NFE2L2 [HSA:4780] [KO:K05638]
PIK3CA [HSA:5290] [KO:K00922]
ARID1A [HSA:8289] [KO:K11653]
ARID2 [HSA:196528] [KO:K11765]
CASP8 [HSA:841] [KO:K04398]
IGF2R [HSA:3482] [KO:K06564]
H00055 Laryngeal cancer ... amplification have been reported in one-third and one-quarter of LSCCs, respectively, both related to advanced stages, whereas c-myc could be amplified in 13% of cases although without associated overexpression. Cancer p53 (mutation) [HSA:7157] [KO:K04451]
p16/INK4A (mutation, LOH, hypermethylation) [HSA:1029] [KO:K06621]
Cyclin D1 (amplification) [HSA:595] [KO:K04503]
EGFR (amplification) [HSA:1956] [KO:K04361]
c-MYC (amplification) [HSA:4609] [KO:K04377]
Cyclin E (amplification) [HSA:898 9134] [KO:K06626]
H00089 IFN-gamma/IL-12 axis
Mendelian susceptibility to mycobacterial disease (MSMD) 		... 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 susceptibility ... 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]
H00107 Other well-defined immunodeficiency syndromes ... mutation in the tyrosine kinase 2 (TYK2) gene causes an autosomal recessive HIES associated with viral and mycobacterial infections. X-linked lymphoproliferative syndrome (XLP) is a rare primary immunodeficiency ... 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]
H00331 Vancomycin-resistant Staphylococcal aureus (VRSA) infection Vancomycin-resistant Staphylococcus aureus (VRSA) represents strains of S. aureus that have ability of resistance to the glycopeptide antibiotic vancomycin. S. aureus is the most common cause of nosocomial ... Bacterial infectious disease hsa05150 Staphylococcus aureus infection
H00340 Vancomycin-resistant enterococci infection ... 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 globally ... Bacterial infectious disease
H00341 Mycoplasma pneumonia Mycoplasmas represent the smallest self-replicating organisms that are most closely related to the gram-positive bacterial group that includes streptococci, bacilli, and lactobacilli. Mycoplasma pneumoniae ... Bacterial infectious disease
H00342 Tuberculosis Tuberculosis is an infectious disease caused by strains of mycobacteria, mainly Mycobacterium tuberculosis, resulting in an estimated two million deaths each year worldwide, more than from any other single ... Bacterial infectious disease hsa05152 Tuberculosis IFNG (protection) [HSA:3458] [KO:K04687]
IFNGR1 (susceptibility/protection) [HSA:3459] [KO:K05132]
IFNGR2 [HSA:3460] [KO:K05133]
HLA-DRB1 (susceptibility) [HSA:3123] [KO:K06752]
HLA-DQB1 (susceptibility) [HSA:3119] [KO:K06752]
SLC11A1 (susceptibility) [HSA:6556] [KO:K12347]
VDR (susceptibility) [HSA:7421] [KO:K08539]
MBL2 (protection) [HSA:4153] [KO:K03991]
CCL2 (susceptibility) [HSA:6347] [KO:K14624]
CD209 (susceptibility) [HSA:30835] [KO:K06563]
CISH (susceptibility) [HSA:1154] [KO:K04701]
IRGM (protection) [HSA:345611] [KO:K14139]
SP110 (susceptibility) [HSA:3431] [KO:K24503]
TIRAP (protection) [HSA:114609] [KO:K05403]
TLR2 (susceptibility) [HSA:7097] [KO:K10159]
H00344 Leprosy
Hansen disease 		Leprosy, also called Hansen's disease, is a chronic infection caused by Mycobacterium leprae (M. leprae) and the more recently discovered Mycobacterium lepromatosis (M. lepromatosis). It primarily affects ... Bacterial infectious disease (LPRS3) TLR2 [HSA:7097] [KO:K10159]
(LPRS4) LTA [HSA:4049] [KO:K05468]
(LPRS5) TLR1 [HSA:7096] [KO:K05398]
H00388 Non-chlamydial non-gonococcal urethritis ... transmitted diseases. Recently, it has been suggested that various pathogenic microorganisms such as Mycoplasma genitalium and Ureaplasma urealyticum are causative agents of non-chlamydial nongonococcal ... Bacterial infectious disease
H00510 Feingold syndrome ... esophageal/duodenal atresias, and learning disability. Feingold syndrome is caused by mutations in MYCN and inherited as an autosomal dominant trait. Recently, individuals sharing the skeletal abnormalities ... Congenital malformation (FGLDS1) MYCN [HSA:4613] [KO:K09109]
(FGLDS2) MIR17HG [HSA:407975]
H00915 Tuberous sclerosis complex
Bourneville-Pringle disease 		... gene products form a physical and functional complex to limit activation of the mammalian target rapamycin (mTOR) complex 1. When these genes are deficient, mTOR complex 1 is constitutively up-regulated ... Congenital malformation (TSC1) TSC1 [HSA:7248] [KO:K07206]
(TSC2) TSC2 [HSA:7249] [KO:K07207]
H01042 Buruli ulcer ... especially in central and western Africa. BU is a serious necrotizing cutaneous infection caused by Mycobacterium ulcerans that is related to the aquatic environment. BU is characterized by indolent, typically ... Bacterial infectious disease
H01049 Gordonia bronchialis infection Gordonia species are aerobic actinomycetes recently recognized as causing human disease in immunocompromised and immunocompetent patients. Gordonia bronchialis has been isolated from cases of bacteremia ... Bacterial infectious disease
H01050 Tsukamurella infection Tsukamurella species are aerobic gram-positive rods from the order Actinomycetales. They have been uncommonly reported as a cause of different human infections, including peritonitis, conjunctivitis, meningitis ... Bacterial infectious disease
H01316 Dermatophytosis
Ringworm 		... fungi of the genera Trichophyton, Epidermophyton or Microsporum. Tinea capitis, tinea pedis and onychomycosis are common dermatologic diseases that may result from such an infection. Dermatophytes are transmitted ... Fungal infectious disease
H01319 Coccidioidomycosis
Valley fever 		Coccidioides immitis and C. posadasii are two endemic dimorphic fungal pathogens that cause coccidioidomycosis, also called valley fever, and are found in the southwestern United States and northern Mexico ... Fungal infectious disease
H01325 Actinomycosis Actinomycosis is an uncommon chronic granulomatous infection caused by several members of the order Actinomycetales, most notably, Actinomyces israelii. Additional species that are established but less ... Bacterial infectious disease
H01329 Paracoccidioidomycosis Paracoccidioidomycosis is a systemic endemic mycosis caused by Paracoccidioides brasiliensis and Paracoccidioides lutzii, exhibiting geographically restricted distribution from southern Mexico to northern ... Fungal infectious disease
H01334 Tinea versicolor
Pityriasis versicolor 		Tinea versicolor, also known as pityriasis versicolor, dermatomycosis furfuracea and tinea flava, is caused by Malassezia species which are naturally found on the skin surfaces of many animals, including ... Fungal infectious disease
H01408 Periodontal disease ... disease-causing bacteria such as Porphyromonas gingivalis, Bacteroides forsythus, Aggregatibacter actinomycetemcomitans, Treponema denticola, and Streptococcus spp. aggregate and thrive; hence, F. nucleatum ... Bacterial infectious disease
H01410 Anaerobic infection ... (primarily Peptostreptococcus) and sporeforming (Clostridium) and non-sporeforming bacilli (especially Actinomyces and Propionibacterium). In terms of frequency, there are four major sites of anaerobic infection ... Bacterial infectious disease
H01443 Viridans group streptococcal infection ... macrolide-lincosamide-streptogramin B (MLS) drugs is an evolving problem, several drugs remain uniformly active against the VGS. Thus far, VGS resistance to vancomycin, linezolid, and daptomycin remains extremely rare. Bacterial infectious disease
H01451 Actinomycetoma Mycetoma is an infectious disease of skin and subcutaneous tissue. It can be caused by either bacteria (actinomycetoma) or fungi (eumycetoma [DS:H02385] ). It is endemic in tropical and subtropical regions ... Bacterial infectious disease
H01458 Nontuberculous mycobacterial infection Mycobacteria species other than the obligate pathogens Mycobacterium tuberculosis complex and Mycobacterium leprae are known as nontuberculous mycobacteria (NTM) or atypical mycobacteria. NTM are normal ... Bacterial infectious disease
H01462 Rapidly growing mycobacteria infection Nontuberculous mycobacteria (NTM) are classified into 2 categories: slow-growing mycobacteria (SGM) and rapidly-growing mycobacteria (RGM), based on interval to colony formation by subculture on solid ... Bacterial infectious disease
H01463 Mycosis fungoides Mycosis fungoides (MF) is the most common type of primary cutaneous T-cell lymphomas (CTCL), which are a heterogeneous group of malignancies derived from skin-homing T cells. MF presents in the skin with ... Cancer p16/INK4a, ARF (mutation,deletion) [HSA:1029] [KO:K06621]
p15/INK4b (mutation, deletion) [HSA:1030] [KO:K04685]
PTEN (mutation) [HSA:5728] [KO:K01110]
p53 (mutation) [HSA:7157] [KO:K04451]
JUNB (mutation) [HSA:3726] [KO:K09028]
Fas (loss of expression) [HSA:355] [KO:K04390]
Nav3 (deletion) [HSA:89795] [KO:K23919]
c-MYC (amplification) [HSA:4609] [KO:K04377]
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