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Entry Name Description Category Pathway Gene
H00003 Acute myeloid leukemia ... characterized by uncontrolled proliferation of clonal neoplastic cells and accumulation in the bone marrow of blasts with an impaired differentiation program. AML accounts for approximately 80% of all adult leukemias ... Cancer hsa05221 Acute myeloid leukemia PML-RARalpha (translocation) [HSA:5371] [KO:K10054]
AML1-ETO (translocation) [HSA:861] [KO:K08367]
PLZF-RARalpha (translocation) [HSA:7704] [KO:K10055]
FLT3 [HSA:2322] [KO:K05092]
KIT [HSA:3815] [KO:K05091]
NRAS [HSA:4893] [KO:K07828]
KRAS [HSA:3845] [KO:K07827]
AML1 [HSA:861] [KO:K08367]
CEBPA [HSA:1050] [KO:K09055]
CBFB [HSA:865] [KO:K25826]
CHIC2 [HSA:26511]
DNMT3A [HSA:1788] [KO:K17398]
ETV6 [HSA:2120] [KO:K03211]
GATA2 [HSA:2624] [KO:K17894]
JAK2 [HSA:3717] [KO:K04447]
LPP [HSA:4026] [KO:K16676]
MLLT10 [HSA:8028] [KO:K23588]
NPM1 [HSA:4869] [KO:K11276]
NUP214 [HSA:8021] [KO:K14317]
PICALM [HSA:8301] [KO:K20044]
SH3GL1 [HSA:6455] [KO:K11247]
TERT [HSA:7015] [KO:K11126]
H00009 Adult T-cell leukemia ... more frequent in ATL cells, and accumulated according to the disease progression. This finding suggests that epigenetic change, including DNA methylation, plays an important role in the leukemogenesis ... Cancer; Viral infectious disease hsa05166 Human T-cell leukemia virus 1 infection p53 (mutation) [HSA:7157] [KO:K04451]
p16/INK4A (deletion, promoter methylation) [HSA:1029] [KO:K06621]
Fas (mutation) [HSA:355] [KO:K04390]
H00015 Malignant pleural mesothelioma ... in the aetiology of MPM. The accumulation of numerous clonal chromosomal deletions in most MMs suggests a multistep process of tumorigenesis, characterized by the loss and/or inactivation of multiple tumor ... 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]
H00029 Vulvar cancer ... that early p53 mutation may be a defining step only in HPV-negative tumors. A rather small study suggests that mutation in phosphatase and tensin homologue (PTEN) is an early change in a substantial subset ... Cancer PTEN (mutation) [HSA:5728] [KO:K01110]
p53 (mutation) [HSA:7157] [KO:K04451]
H00085 Agammaglobulinemias ... class switch recombination defects), and (c) common variable immunodeficiency (CVID). Category (a) consists of agammaglobulinaemias (AGM). Defects in early B cell development are characterized by the onset ... Immune system disease (AGMX1) BTK [HSA:695] [KO:K07370]
(AGMX2) SH3KBP1 [HSA:30011] [KO:K12470]
(AGM2) IGLL1 [HSA:3543] [KO:K06554]
(AGM3) CD79A [HSA:973] [KO:K06506]
(AGM4) BLNK [HSA:29760] [KO:K07371]
(AGM5) LRRC8A [HSA:56262] [KO:K22038]
(AGM6) CD79B [HSA:974] [KO:K06507]
(AGM7) PIK3R1 [HSA:5295] [KO:K02649]
(AGM8A/8B) TCF3 [HSA:6929] [KO:K09063]
(AGM9) SLC39A7 [HSA:7922] [KO:K14713]
(AGM10) SPI1 [HSA:6688] [KO:K09438]
H00096 Defects of toll-like receptor signaling ... also fail to produce IL-1beta, IL-6, IL-8, IL-12, and TNF-alpha upon stimulation with known TLR agonists. Despite the broad impairment at the two subsequent levels of onset (TLR) and propagation (IL-1R) ... Primary immunodeficiency (IMD67) IRAK4 [HSA:51135] [KO:K04733]
(IMD39) IRF7 [HSA:3665] [KO:K09447]
(IMD74) TLR7 [HSA:51284] [KO:K05404]
(IMD98) TLR8 [HSA:51311] [KO:K10170]
H00126 Gaucher disease ... of glucosylceramide (GC) in lysosomes of affected cells. Despite the fact that Gaucher Disease consists of a phenotype, with varying degrees of severity, it has been sub-divided in three subtypes according ... Inherited metabolic disorder, Lysosomal disease (GD1/GD2/GD3/GD3C) GBA1 [HSA:2629] [KO:K01201]
(GDSAPC) PSAP [HSA:5660] [KO:K12382]
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]
H00152 Sitosterolemia Sitosterolemia is an autosomal recessive lipid disorder caused by mutation in the ABC transporter gene and characterized by elevated plasma levels of plant sterols due to increased intestinal absorption ... Inherited metabolic disorder (STSL1) ABCG8 [HSA:64241] [KO:K05684]
(STSL2) ABCG5 [HSA:64240] [KO:K05683]
H00170 Piebaldism ... caused by mutations of kit proto-oncogene implicated in the differentiation and migration of melanoblasts. The disease is characterized by the congenital absence of melanocytes in affected areas of the skin ... Inherited metabolic disorder (PBT) KIT [HSA:3815] [KO:K05091]
H00286 Crohn disease ... may also be affected. In Western populations, over 50% of patients possess NOD2 mutations. Evidence exists that the NOD2 polymorphisms impair NF-kappaB activation and cytokine secretion in response to its ... 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]
H00292 Hypertrophic cardiomyopathy ... imbalance in energy supply and demand in the heart under severe stress. The inefficient use of ATP suggests that an inability to maintain normal ATP levels could be the central abnormality. This theory might ... 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]
H00302 Citrobacter infection Citrobacter species may cause infections in neonates and immunocompromised hosts. Among them, C. koseri is an important cause of neonatal meningitis and brain abscess formation. Neonates may acquire C ... Bacterial infectious disease
H00319 Pertussis
Whooping cough 		... frequency and severity. However, it should be noted that B. pertussis infections, particularly in hosts with partial immunity to the bacterium, may also follow a much milder or subclinical course. Complications ... Bacterial infectious disease hsa05133 Pertussis
H00320 Helicobacter pylori infection ... in developing countries. Although HP may sometimes be eradicated by antibiotics given for other infections, infection usually persists life-long unless specific combination antibiotic therapy is taken. Bacterial infectious disease hsa05120 Epithelial cell signaling in Helicobacter pylori infection
H00333 Streptococcal infection ... of infections each year, ranging from mild pharyngitis to severe streptococcal toxic shock-like syndrome (STSS), and GBS causes neonatal invasive infections including sepsis, pneumonia, and meningitis. Bacterial infectious disease
H00337 Tetanus ... wounds. Mortality rate among untreated patients is high. Tetanus affects the muscles and nerves and manifests as muscle spasms in the jaw (lockjaw). Tetanus can be prevented by getting the tetanus vaccine. Bacterial infectious disease
H00353 Lyme borreliosis
Lyme disease 		... variety of peripheral nerve disorders (Lyme neuroborreliosis) can occur as well. Late Lyme borreliosis usually manifests as arthritis or the skin disorder known as acrodermatitis chronica atrophicans. Bacterial infectious disease
H00367 Infectious mononucleosis
Epstein-Barr virus (EBV) infection 		Epstein-Barr virus (EBV) is a common gammaherpesvirus whose initial infection manifests as infectious mononucleosis that is defined as a clinical triad of fever, pharyngitis, and adenopathy. EBV establishes ... Viral infectious disease hsa05169 Epstein-Barr virus infection
H00373 Mpox (Monkeypox) ... zoonotic disease caused by Monkeypox virus of the genus Orthopoxvirus. It occurs mostly in the rain forests of central and western Africa. Human monkeypox has a clinical presentation similar to that of smallpox ... Viral infectious disease
H00378 Lyssavirus infection
Rabies-related virus infection 		... rabies-related viruses. Rabies-related lyssaviruses utilize mostly bats as their principal reservoir hosts as well as various terrestrial carnivores as terminal hosts. They can cause acute, fatal encephalitis ... Viral infectious disease
H00390 Hantavirus pulmonary syndrome ... order Bunyavirales of -ssRNA viruses. Rodents have long been considered to be the primary reservoir hosts of hantaviruses. However, recent discoveries have revealed that hantaviruses infect a more diverse ... Viral infectious disease
H00401 Respiratory syncytial virus infection
RSV infection 		... illness in infants and young children. It affects the elderly and immunocompromised individuals as well. Although RSV was discovered half a century ago, no effective treatment for the infection exists. Viral infectious disease
H00427 Relapsing fever ... problems in Africa. The symptoms are variable. Although relapsing fever is considered a transient disease, it persists as a residual infection in the brain, which can be reactivated on immunosuppression. Bacterial infectious disease
H00434 Camurati-Engelmann disease
Progressive diaphyseal dysplasia 		... onset of CED is during early childhood with muscle weakness and limb pain. The mutations in TGF-beta 1 LAP domain modulate TGF-beta 1 activity and lead to increased proliferation of osteoblasts in CED. Congenital malformation TGFB1 [HSA:7040] [KO:K13375]
H00435 Toxoplasmosis ... gondii. The majority of horizontal transmissions to humans is caused either by the ingestion of tissue cysts in infected meat or by the ingestion of soil, water, or food contaminated with sporulated oocysts ... Parasitic infectious disease hsa05145 Toxoplasmosis
H00436 Osteopetrosis ... most of the mutated genes encode proteins that regulate the intra- and extracellular pH of osteoclasts, such as TCIRG1 gene encoding for the a3 subunit of the V-ATPase and CLCN7 gene. In cases with decreased ... Congenital malformation (OPTA1) LRP5 [HSA:4041] [KO:K03068]
(OPTA2/B4) CLCN7 [HSA:1186] [KO:K05016]
(OPTA3/B6) PLEKHM1 [HSA:9842] [KO:K23282]
(OPTB1) TCIRG1 [HSA:10312] [KO:K02154]
(OPTB2) TNFSF11 [HSA:8600] [KO:K05473]
(OPTB3) CA2 [HSA:760] [KO:K18245]
(OPTB5) OSTM1 [HSA:28962] [KO:K23863]
(OPTB7) TNFRSF11A [HSA:8792] [KO:K05147]
(OPTB8) SNX10 [HSA:29887] [KO:K17924]
(OPTB9) SLC4A2 [HSA:6522] [KO:K13855]
H00504 Rubinstein-Taybi syndrome Rubinstein-Taybi syndrome (RSTS) is an autosomal dominant disorder with distinctive facial features, broad thumbs and toes, and mental retardation. Mutations in CREBBP and EP300 have been reported in the ... Congenital malformation (RSTS1) CREBBP [HSA:1387] [KO:K04498]
(RSTS2) EP300 [HSA:2033] [KO:K04498]
H00542 Polycystic kidney disease Polycystic kidney disease (PKD) is the most common life-threatening genetic disease characterized by bilateral cyst formation on the kidneys. It is often associated with liver cysts. Congenital malformation (PKD1) PKD1 [HSA:5310] [KO:K04985]
(PKD2) PKD2 [HSA:5311] [KO:K04986]
(PKD3) GANAB [HSA:23193] [KO:K05546]
(PKD4) PKHD1 [HSA:5314] [KO:K19865]
(PKD5) DZIP1L [HSA:199221] [KO:K16470]
(PKD6) DNAJB11 [HSA:51726] [KO:K09517]
(PKD7) ALG5 [HSA:29880] [KO:K00729]
H00545 Polycystic liver disease Isolated polycystic liver disease is an inherited disorder in which cysts occur only in the liver without renal involvement. The two genes, PRKCSH, encoding hepatocystin, and SEC63, are found in patients ... Congenital malformation (PCLD1) PRKCSH [HSA:5589] [KO:K08288]
(PCLD2) SEC63 [HSA:11231] [KO:K09540]
(PCLD3) ALG8 [HSA:79053] [KO:K03849]
(PCLD4) LRP5 [HSA:4041] [KO:K03068]
H00553 Congenital supravalvular aortic stenosis ... stenosis (SVAS) is a rare stenotic lesion of the left ventricular out flow tract. The malformation consists a supravalvar narrowing at the aortic sinotubular junction. The underlying cause of the disease is ... Congenital malformation ELN [HSA:2006] [KO:K14211]
H00558 Geroderma osteodysplasticum ... osteopenia with spontaneous fractures and the lack of large open fontanels. Mutations have been discovered in SCYL1BP1, which localizes to the Golgi apparatus and is expressed in skin and osteoblasts. Congenital malformation SCYL1BP1 [HSA:92344] [KO:K19748]
PYCR1 [HSA:5831] [KO:K00286]
H00579 Hereditary angiopathy with nephropathy, aneurysms, and muscle cramps (HANAC) ... in the COL4A1 in basement membranes. The renal manifestations include hematuria and bilateral renal cysts. In affected individuals, retinal arteriolar tortuosity and intracranial aneurysms are commonly observed Congenital malformation COL4A1 [HSA:1282] [KO:K06237]
H00627 Premature ovarian failure ... associated with POF development. For the environmental causes, medical intervention including surgeries and chemotherapies may lead to POF. Autoimmune ovarian failure consists another large category of POF. Reproductive system disease (POF1) FMR1 [HSA:2332] [KO:K15516]
(POF2A) DIAPH2 [HSA:1730] [KO:K05741]
(POF2B) POF1B [HSA:79983] [KO:K23917]
(POF3) FOXL2 [HSA:668] [KO:K09405]
(POF4) BMP15 [HSA:9210] [KO:K05498]
(POF5) NOBOX [HSA:135935] [KO:K24199]
(POF6) FIGLA [HSA:344018] [KO:K09066]
(POF7) NR5A1 [HSA:2516] [KO:K08560]
(POF8) STAG3 [HSA:10734] [KO:K13055]
(POF9) HFM1 [HSA:164045] [KO:K15271]
(POF10) MCM8 [HSA:84515] [KO:K10737]
(POF11) ERCC6 [HSA:2074] [KO:K10841]
(POF12) SYCE1 [HSA:93426] [KO:K19534]
(POF13) MSH5 [HSA:4439] [KO:K08741]
(POF14) GDF9 [HSA:2661] [KO:K22673]
(POF15) FANCM [HSA:57697] [KO:K10896]
(POF16) BNC1 [HSA:646] [KO:K24146]
(POF17) XRCC2 [HSA:7516] [KO:K10879]
(POF18) C14orf39 [HSA:317761] [KO:K25705]
(POF19) HSF2BP [HSA:11077] [KO:K25791]
(POF20) MSH4 [HSA:4438] [KO:K08740]
(POF21) TP63 [HSA:8626] [KO:K10149]
(POF22) KASH5 [HSA:147872] [KO:K22595]
(POF23) MEIOB [HSA:254528] [KO:K22420]
H00630 Rheumatoid arthritis Rheumatoid arthritis (RA) is a common autoimmune disease that primarily manifests as chronic inflammatory arthropathy. Persistent synovitis leads to cartilage destruction, bone erosions and periarticular ... Immune system disease hsa05323 Rheumatoid arthritis HLA-DRB1 [HSA:3123] [KO:K06752]
PTPN22 [HSA:26191] [KO:K18024]
CIITA [HSA:4261] [KO:K08060]
CD244 [HSA:51744] [KO:K06582]
SLC22A4 [HSA:6583] [KO:K08202]
IRF5 [HSA:3663] [KO:K09446]
NFKBIL1 [HSA:4795] [KO:K09256]
IL10 [HSA:3586] [KO:K05443]
(JIA) IL6 [HSA:3569] [KO:K05405]
(JIA) MIF [HSA:4282] [KO:K07253]
H00684 Pachyonychia congenita ... clinical features include follicular hyperkeratosis, leukokeratosis of the oral mucosa, and various cysts (steatocysts and pilosebaceous cysts). It is caused by a mutation in one of four keratin genes KRT6A ... Congenital malformation (PC1) KRT16 [HSA:3868] [KO:K07604]
(PC2) KRT17 [HSA:3872] [KO:K07604]
(PC3) KRT6A [HSA:3853] [KO:K07605]
(PC4) KRT6B [HSA:3854] [KO:K07605]
H00700 Centronuclear myopathy ... numerous centrally placed nuclei on muscle biopsy and clinical features of a congenital myopathy. CNM exists in the genetic bases of the three main forms: the X-linked recessive form or myotubular myopathy ... Nervous system disease; Musculoskeletal disease (CNMX) MTM1 [HSA:4534] [KO:K01108]
(CNM1) DNM2 [HSA:1785] [KO:K23484]
(CNM2) BIN1 [HSA:274] [KO:K12562]
(CNM3) MYF6 [HSA:4618] [KO:K18485]
(CNM4) CCDC78 [HSA:124093] [KO:K23693]
(CNM5) SPEG [HSA:10290] [KO:K08809]
(CNM6) MAP3K20 [HSA:51776] [KO:K04424]
H00711 Russell-Silver syndrome
Silver-Russell syndrome 		... involving the H19 and IGF2 genes. SRS2 is caused by maternal uniparental disomy of chromosome 7. The high proportion of patients with unidentified molecular etiology suggests the involvement of other genes. Congenital malformation (SRS3) IGF2 [HSA:3481] [KO:K13769]
(SRS4) PLAG1 [HSA:5324] [KO:K19484]
(SRS5) HMGA2 [HSA:8091] [KO:K09283]
H00723 Non-epidermolytic palmoplantar keratoderma Nonepidermolytic palmoplantar keratoderma (NEPPK) is an autosomal dominant skin disorder that manifests as keratosis of the palmar and plantar surfaces surrounded by erythema. NEPPK is divided into the ... Congenital malformation (NEPPK) KRT16 [HSA:3868] [KO:K07604]
(PPKNEFD) KRT6C [HSA:286887] [KO:K07605]
H00726 Meesmann corneal dystrophy ... ocular irritation but some patients may remain asymptomatic for many years. Characteristic intraepithelial cysts on the anterior cornea are observed. Most cases are inherited as autosomal dominant traits. Nervous system disease KRT3 [HSA:3850] [KO:K07605]
KRT12 [HSA:3859] [KO:K07604]
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