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Entry Name Description Category Pathway Gene
H00007 Hodgkin lymphoma Hodgkin's lymphoma (HL) is one of the most frequent lymphomas in the Western world and often affects young adults. HL is subdivided into classical and nodular lymphocyte-predominant forms. About 95% of cases ... 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]
H00008 Burkitt lymphoma ... endemic, sporadic, and immunodeficiency-associated variants. Endemic BL (eBL) affects children and young adults in Africa and some other geographical areas and carries Epstein-Barr virus (EBV) in more than ... Cancer MYC-IgH (translocation) [HSA:4609] [KO:K04377]
p53 (mutation) [HSA:7157] [KO:K04451]
p16/INK4A (promoter methylation) [HSA:1029] [KO:K06621]
H00013 Small cell lung cancer Lung cancer is a leading cause of cancer death among men and women in industrialized countries. Small cell lung carcinoma (SCLC) is a highly aggressive neoplasm, which accounts for approximately 25% of ... 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]
H00014 Non-small cell lung cancer Lung cancer is a leading cause of cancer death among men and women in industrialized countries. Non-small-cell lung cancer (NSCLC) accounts for approximately 85% of lung cancer and represents a heterogeneous ... 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]
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]
H00023 Testicular cancer ... (TGCT) comprises about 98% of all testicular neoplasms and is thereby the most common malignancy among young males. Overall, three different entities of TGCT can be distinguished: teratomas and yolk sac tumors ... Cancer CCND2 (amplification) [HSA:894] [KO:K10151]
FGFR3 [HSA:2261] [KO:K05094]
KIT [HSA:3815] [KO:K05091]
STK11 [HSA:6794] [KO:K07298]
H00026 Endometrial cancer ... and the fourth most common malignancy in women in the developed world after breast, colorectal and lung cancer. Two types of endometrial carcinoma are distinguished with respect to biology and clinical ... Cancer hsa05213 Endometrial cancer ERBB2 (amplification) [HSA:2064] [KO:K05083]
PTEN (mutation, deletions, methylation) [HSA:5728] [KO:K01110]
MLH1 (mutation, methylation) [HSA:4292] [KO:K08734]
KRAS [HSA:3845] [KO:K07827]
CTNNB1 [HSA:1499] [KO:K02105]
TP53 [HSA:7157] [KO:K04451]
MSH3 [HSA:4437] [KO:K08736]
CDH1 [HSA:999] [KO:K05689]
H00029 Vulvar cancer ... of SCC of the vulva. The less common, accounting for about one-third of cases, occurs in relatively young women, is usually preceded by the undifferentiated form of vulvar squamous intraepithelial neoplasia ... Cancer PTEN (mutation) [HSA:5728] [KO:K01110]
p53 (mutation) [HSA:7157] [KO:K04451]
H00035 Ewing sarcoma Ewing sarcoma is the second most common malignant bone tumor occurring in children and young adults, and accounts for 10-15% of all primary bone tumors. The annual incidence is approximately 0.6/million ... Cancer EWSR1-FLI1 (translocation) [HSA:2313] [KO:K09436]
EWSR1-ERG (translocation) [HSA:2078] [KO:K09435]
EWSR1-ETV1 (translocation) [HSA:2115] [KO:K09431]
EWSR1-ETV4 (translocation) [HSA:2118] [KO:K15592]
EWSR1-FEV (translocation) [HSA:54738] [KO:K09437]
EWSR1 [HSA:2130] [KO:K13209]
H00042 Glioma ... p16/INK4a deletion, and PTEN mutations) at frequencies of 24-34%. Secondary glioblastomas develop in younger patients and frequently show overexpression of PDGF and CDK4 as well as p53 mutations (65%) and ... Cancer hsa05214 Glioma (GLM1) IDH1 [HSA:3417] [KO:K00031]
(GLM1) TP53 [HSA:7157] [KO:K04451]
(GLM1) ERBB2 [HSA:2064] [KO:K05083]
(GLM2) PTEN [HSA:5728] [KO:K01110]
(GLM3) BRCA2 [HSA:675] [KO:K08775]
(GLM9) POT1 [HSA:25913] [KO:K11109]
EGFR (amplification, overexpression) [HSA:1956] [KO:K04361]
MDM2 (amplification, overexpression) [HSA:4193] [KO:K06643]
CDK4 (amplification) [HSA:1019] [KO:K02089]
PDGFA (overexpression) [HSA:5154] [KO:K04359]
PDGFB (overexpression) [HSA:5155] [KO:K17386]
PDGFRA (overexpression, amplification) [HSA:5156] [KO:K04363]
PDGFRB (overexpression, amplification) [HSA:5159] [KO:K05089]
RB1 (loss) [HSA:5925] [KO:K06618]
CDKN2A [HSA:1029] [KO:K06621]
H00050 Synovial sarcoma ... account for 7% to 10% of all human soft-tissue sarcomas. The tumors arise at any age, but affect mainly young adults and more commonly males. Clinically, they appear as deep-seated slowly growing masses. In ... Cancer SYT-SSX1 (translocation) [HSA:6756] [KO:K15624]
SYT-SSX2 (translocation) [HSA:6757] [KO:K15625]
IGF-IR (overexpression) [HSA:3480] [KO:K05087]
H00051 Alveolar soft part sarcoma ... (ASPS) is a rare, histologically distinctive soft-tissue sarcoma typically occurring in children and young adults. Although it displays a relatively indolent clinical course, the ultimate prognosis is poor ... Cancer ASPSCR1-TFE3 (translocation) [HSA:79058 7030] [KO:K15627 K09105]
H00068 Leber hereditary optic atrophy
Leber optic atrophy 		... mitochondrial DNA (mtDNA). It is primarily an ophthalmological disorder, presenting predominantly in young adult males and characterized by acute or subacute bilateral optic atrophy that results in the loss ... Nervous system disease ND1 [HSA:4535] [KO:K03878]
ND2 [HSA:4536] [KO:K03879]
ND4 [HSA:4538] [KO:K03881]
ND4L [HSA:4539] [KO:K03882]
ND5 [HSA:4540] [KO:K03883]
ND6 [HSA:4541] [KO:K03884]
CYTB [HSA:4519] [KO:K00412]
COX1 [HSA:4512] [KO:K02256]
COX3 [HSA:4514] [KO:K02262]
ATP6 [HSA:4508] [KO:K02126]
H00086 Hyper IgM syndromes, autosomal recessive type ... autosomal recessive hyper IgM syndromes, the problem lies in the nucleotide-editing enzymes AICD or UNG. These enzymes are only present in the germinal center B cells, and defects in either disrupt B-cell ... Immune system disease (HIGM1) CD40LG [HSA:959] [KO:K03161]
(HIGM2) AICDA [HSA:57379] [KO:K10989]
(HIGM3) CD40 [HSA:958] [KO:K03160]
(HIGM5) UNG [HSA:7374] [KO:K03648]
H00091 T-B+Severe combined immunodeficiency ... that result in early-onset severe infections by a range of pathogens (such as bacteria, viruses and fungi). Typically, patients with SCID have a severe defect in T-cell differentiation, along with direct ... Primary immunodeficiency IL2RG [HSA:3561] [KO:K05070]
JAK3 [HSA:3718] [KO:K11218]
IL7R [HSA:3575] [KO:K05072]
PTPRC [HSA:5788] [KO:K06478]
CD3D [HSA:915] [KO:K06450]
CD3E [HSA:916] [KO:K06451]
CD247 [HSA:919] [KO:K06453]
CORO1A [HSA:11151] [KO:K13882]
BCL11B [HSA:64919] [KO:K22046]
H00092 T-B-Severe combined immunodeficiency ... that result in early-onset severe infections by a range of pathogens (such as bacteria, viruses and fungi). Typically, patients with SCID have a severe defect in T-cell differentiation, along with direct ... Primary immunodeficiency ADA [HSA:100] [KO:K01488]
RAG1 [HSA:5896] [KO:K10628]
RAG2 [HSA:5897] [KO:K10988]
DCLRE1C [HSA:64421] [KO:K10887]
AK2 [HSA:204] [KO:K00939]
PRKDC [HSA:5591] [KO:K06642]
H00203 Acatalasemia
Takahara disease 		... peroxides generated in peroxisomes and removes them with high efficiency. The Japanese, Swiss, and Hungarian types of acatalasemia display differences in biochemical and genetic aspects. Takahara's disease ... Inherited metabolic disorder CAT [HSA:847] [KO:K03781]
H00217 Pulmonary alveolar proteinosis ... generate antibodies against the granulocyte macrophage colony stimulating factor (GM-CSF) protein. Whole-lung lavage is the most widely accepted therapy for symptomatic PAP. Recent data suggest that exogenous ... Respiratory system disease
H00275 Cystinosis ... introduction of cysteamine into the pharmacological management of cystinosis, well-treated adolescent and young adult patients have experienced normal growth and maintenance of renal glomerular function. Inherited metabolic disorder, Lysosomal disease CTNS [HSA:1497] [KO:K12386]
H00285 Blau syndrome ... Inflammation seen in patients with Blau syndrome might be due to an aberrant activation of NOD2 and constitutive NF-kappaB activation. Blau syndrome usually occurs in children younger than age 4 years. Immune system disease NOD2 [HSA:64127] [KO:K10165]
H00292 Hypertrophic cardiomyopathy ... interstitial fibrosis. HCM is one of the most common inherited cardiac disorders, with a prevalence in young adults of 1 in 500. Hundreds of mutations in the genes that encode protein constituents of the sarcomere ... Cardiovascular disease hsa05410 Hypertrophic cardiomyopathy (CMH1) MYH7 [HSA:4625] [KO:K17751]
(CMH1) MYLK2 [HSA:85366] [KO:K00907]
(CMH1) CAV3 [HSA:859] [KO:K12959]
(CMH2) TNNT2 [HSA:7139] [KO:K12045]
(CMH3) TPM1 [HSA:7168] [KO:K10373]
(CMH4) MYBPC3 [HSA:4607] [KO:K12568]
(CMH6) PRKAG2 [HSA:51422] [KO:K07200]
(CMH7) TNNI3 [HSA:7137] [KO:K12044]
(CMH8) MYL3 [HSA:4634] [KO:K12749]
(CMH9) TTN [HSA:7273] [KO:K12567]
(CMH10) MYL2 [HSA:4633] [KO:K10351]
(CMH11) ACTC1 [HSA:70] [KO:K12314]
(CMH12) CSRP3 [HSA:8048] [KO:K09377]
(CMH13) TNNC1 [HSA:7134] [KO:K05865]
(CMH14) MYH6 [HSA:4624] [KO:K17751]
(CMH15) VCL [HSA:7414] [KO:K05700]
(CMH16) MYOZ2 [HSA:51778] [KO:K26050]
(CMH17) JPH2 [HSA:57158] [KO:K19530]
(CMH18) PLN [HSA:5350] [KO:K05852]
(CMH20) NEXN [HSA:91624] [KO:K23918]
(CMD1KK/CMH22) MYPN [HSA:84665] [KO:K22028]
(CMD1AA/CMH23) ACTN2 [HSA:88] [KO:K21073]
(CMD1C/CMH24) LDB3 [HSA:11155] [KO:K19867]
(CMH25) TCAP [HSA:8557] [KO:K19879]
(CMH26) FLNC [HSA:2318] [KO:K27393]
(CMH27) ALPK3 [HSA:57538] [KO:K08868]
(CMH28) FHOD3 [HSA:80206] [KO:K23939]
(CMH29) KLHL24 [HSA:54800] [KO:K10461]
(CMH30) CORIN [HSA:10699] [KO:K09614]
H00295 Viral myocarditis ... However, coxsackieviruses are considered the dominant cause of myocarditis, particularly in neonates and young children. After the acute phase caused by direct cytopathic effects of the virus, a small proportion ... Cardiovascular disease hsa05416 Viral myocarditis
H00311 Legionellosis
Legionnaires disease 		... humans: LD, with an incubation period of 2-10 days, which is a multisystem illness that involves the lungs, causing pneumonia, and can cause neurological symptoms, diarrhea and high mortality (up to 50%) ... Bacterial infectious disease hsa05134 Legionellosis TLR5 [HSA:7100] [KO:K10168]
H00328 Anthrax ... infections can occur from infected animals or animal products through three main routes: skin (cutaneous), lung (inhalation) and mouth (gastrointestinal). The disease is rare, but the potential threat of anthrax ... Bacterial infectious disease
H00345 Nocardiosis ... disease is the most common clinical presentation especially in immunocompromised patients. Nocardiosis also occurs in disseminated form, affecting lungs, central nervous system, skin, and the soft tissues. Bacterial infectious disease
H00346 Extrinsic allergic alveolitis
Hypersensitivity pneumonitis 		... variety of symptoms. EAA is caused by a wide variety of antigens including bacteria, organic materials, fungal spores, and chemicals. Of the various EAA syndromes, Farmer's lung and Bird fancier's disease are ... Immune system disease
H00363 Candidiasis Candidiasis is a fungal infection with Candida species, predominantly with Candida albicans. Invasive candidiasis is a major cause of morbidity and mortality in the intensive care unit (ICU) setting, causing ... Fungal infectious disease
H00364 Cryptococcosis ... immunocompromised patient. It mainly infects the central nervous system and causes meningitis. Cryptococcal lung disease is also an important clinical outcome, leading to severe pneumonia with respiratory failure Fungal infectious disease
H00401 Respiratory syncytial virus infection
RSV infection 		... the Paramyxoviridae family is a major cause of acute lower respiratory tract illness in infants and young children. It affects the elderly and immunocompromised individuals as well. Although RSV was discovered ... Viral infectious disease
H00410 Maturity onset diabetes of the young (MODY) Maturity-onset diabetes of the young (MODY) is a genetically and clinically heterogeneous subtype of familial diabetes mellitus characterized by autosomal dominant inheritance, early onset before 25 years ... Endocrine and metabolic disease hsa04950 Maturity onset diabetes of the young (MODY1) HNF4A [HSA:3172] [KO:K07292]
(MODY2) GCK [HSA:2645] [KO:K12407]
(MODY3) HNF1A [HSA:6927] [KO:K08036]
(MODY4) PDX1 [HSA:3651] [KO:K07594]
(MODY5) HNF1B [HSA:6928] [KO:K08034]
(MODY6) NEUROD1 [HSA:4760] [KO:K08033]
(MODY7) KLF11 [HSA:8462] [KO:K09209]
(MODY8) CEL [HSA:1056] [KO:K12298]
(MODY9) PAX4 [HSA:5078] [KO:K08032]
(MODY10) INS [HSA:3630] [KO:K04526]
(MODY11) BLK [HSA:640] [KO:K08890]
(MODY13) KCNJ11 [HSA:3767] [KO:K05004]
(MODY14) APPL1 [HSA:26060] [KO:K08733]
H00636 Tetra-amelia syndrome ... heart, nervous system, and urogenital system. Homozygous Wnt3 mutation is responsible for tetra-amelia. Recently, it has been reported that RSPO2 mutations cause tetra-amelia syndrome with lung aplasia. Congenital malformation (TETAMS1) WNT3 [HSA:7473] [KO:K00312]
(TETAMS2) RSPO2 [HSA:340419] [KO:K23097]
H00641 ADULT syndrome ADULT syndrome is an acronym for acro-dermato-ungual-lacrimal-tooth syndrome. It is a rare autosomal dominant disorder characterized by ectrodactyly, excessive freckling, nail dysplasia, obstruction of ... Congenital malformation TP63 (gain of function) [HSA:8626] [KO:K10149]
H00693 Ichthyosis bullosa of Siemens ... blister formation. The blistering is superficial, and areas of peeling of the skin are known as the 'Mauserung phenomenon'. IBS shows similar features to those in epidermolytic hyperkeratosis, but can be distinguished ... Congenital malformation KRT2E [HSA:3849] [KO:K07605]
H00720 Long QT syndrome ... ventricular tachycardia frequently leading to syncope, cardiac arrest, or sudden death usually in young otherwise healthy individuals. Anesthesia in a patient with LQTS can trigger malignant arrhythmias ... Cardiovascular disease (LQT1) KCNQ1 [HSA:3784] [KO:K04926]
(LQT2) KCNH2 [HSA:3757] [KO:K04905]
(LQT3) SCN5A [HSA:6331] [KO:K04838]
(LQT4) ANK2 [HSA:287] [KO:K09255]
(LQT5) KCNE1 [HSA:3753] [KO:K04894]
(LQT6) KCNE2 [HSA:9992] [KO:K04896]
(LQT7) KCNJ2 [HSA:3759] [KO:K04996]
(LQT8) CACNA1C [HSA:775] [KO:K04850]
(LQT9) CAV3 [HSA:859] [KO:K12959]
(LQT10) SCN4B [HSA:6330] [KO:K04848]
(LQT11) AKAP9 [HSA:10142] [KO:K16551]
(LQT12) SNTA1 [HSA:6640] [KO:K24063]
(LQT13) KCNJ5 [HSA:3762] [KO:K04999]
(LQT14) CALM1 [HSA:801] [KO:K02183]
(LQT15) CALM2 [HSA:805] [KO:K02183]
(LQT16) CALM3 [HSA:808] [KO:K02183]
H00830 Alveolar capillary dysplasia with misalignment of pulmonary veins Alveolar capillary dysplasia with misalignment of the pulmonary veins (ACD/MPV) is a rare developmental lung disorder of neonates that can cause persistent pulmonary hypertension of the neonate (PPHN). FOXF1 ... Respiratory system disease FOXF1 [HSA:2294] [KO:K09399]
H00860 Benign hereditary chorea ... with this disorder. TTF1, belonging to the NKX2 homeodomain transcription factor family, has been implicated in several important molecular pathways essential for brain, thyroid and lung morphogenesis. Nervous system disease TTF1 [HSA:7270] [KO:K15225]
H00877 Brain small vessel disease ... diffuse white matter diseases. Approximately 5% of BSVDs are considered hereditary, with an extremely young age of onset. To date, several genes have been associated with hereditary BSVD. Mutations in the ... Cardiovascular disease (BSVD1) COL4A1 [HSA:1282] [KO:K06237]
(BSVD2) COL4A2 [HSA:1284] [KO:K06237]
(BSVD3) COLGALT1 [HSA:79709] [KO:K11703]
H00896 Lymphangioleiomyomatosis Lymphangioleiomyomatosis (LAM) is a rare lung disease, primarily affecting women. Abnormal proliferation of smooth muscle-like cells (LAM cells) within the lung is responsible for cystic destruction of ... Respiratory system disease TSC1 [HSA:7248] [KO:K07206]
TSC2 [HSA:7249] [KO:K07207]
H00904 Cutis laxa with severe pulmonary, gastrointestinal, and urinary abnormalities
Urban-Rifkin-Davis syndrome 		... craniofacial, and dermal development. Respiratory distress with cystic and atelectatic changes in the lungs could be fatal in this disease. Mutations in LTBP4 lead to lack of deposition of LTBP4 into the ... Congenital malformation LTBP4 [HSA:8425] [KO:K08023]
H00908 Mowat-Wilson syndrome ... phenotype, intellectual deficiency, epilepsy and variable congenital malformations including Hirschsprung disease, genitourinary anomalies, congenital heart defects, agenesis of the corpus callosum and eye ... Congenital malformation ZEB2 [HSA:9839] [KO:K23560]
H00910 Hirschsprung disease Hirschsprung disease (HSCR) is a relatively common cause of intestinal obstruction in the newborn. It is characterized by absence of ganglion cells in the distal bowel and extending proximally for varying ... Congenital malformation (HSCR1) RET [HSA:5979] [KO:K05126]
(HSCR2) EDNRB [HSA:1910] [KO:K04198]
(HSCR3) GDNF [HSA:2668] [KO:K05452]
(HSCR4) EDN3 [HSA:1908] [KO:K05227]
(HCAD) ECE1 [HSA:1889] [KO:K01415]
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