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Entry Name Description Category Pathway Gene
H00010 Multiple myeloma ... which leads to dysregulation of oncogenes at translocation partner regions (cyclin D1 at 11q13, FGFR3/MMSET at 4p16.3, c-MAF at 16q23, and cyclin D3 at 6p21), and deletions of 13q14, the site of a putative ... 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]
H00029 Vulvar cancer ... 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 of vulvar carcinomas. Cancer PTEN (mutation) [HSA:5728] [KO:K01110]
p53 (mutation) [HSA:7157] [KO:K04451]
H00030 Cervical cancer ... women worldwide, and it occurs following persistent infection, sometimes for decades, with a specific subset of human papillomavirus (HPV) types, particularly types 16, 18, 33 and 42. Experimental studies show ... Cancer K-ras (mutation) [HSA:3845] [KO:K07827]
H-ras (mutation) [HSA:3265] [KO:K02833]
EGFR (amplification) [HSA:1956] [KO:K04361]
ERBB2 (amplification) [HSA:2064] [KO:K05083]
p21 (overexpression) [HSA:1026] [KO:K06625]
CDK4 (overexpression) [HSA:1019] [KO:K02089]
Bcl-2 (overexpression) [HSA:596] [KO:K02161]
H00056 Alzheimer disease
Dementia due to Alzheimer disease 		... genetic studies have revealed four genes that may be linked to autosomal dominant or familial early onset AD (FAD). These four genes include: amyloid precursor protein (APP), presenilin 1 (PS1), presenilin ... 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]
H00058 Amyotrophic lateral sclerosis (ALS)
Lou Gehrig disease 		Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disorder characterized by a progressive degeneration of motor neurons in the brain and spinal cord. In 90% of patients, ALS is sporadic, with ... Neurodegenerative disease hsa05014 Amyotrophic lateral sclerosis (ALS1) SOD1 [HSA:6647] [KO:K04565]
(ALS1) NEFH [HSA:4744] [KO:K04574]
(ALS1) PRPH [HSA:5630] [KO:K07607]
(ALS1) DCTN1 [HSA:1639] [KO:K04648]
(ALS2) ALS2 [HSA:57679] [KO:K04575]
(ALS4) SETX [HSA:23064] [KO:K10706]
(ALS5) SPG11 [HSA:80208] [KO:K19026]
(ALS6) FUS [HSA:2521] [KO:K13098]
(ALS8) VAPB [HSA:9217] [KO:K10707]
(ALS9) ANG [HSA:283] [KO:K16631]
(ALS10) TARDBP [HSA:23435] [KO:K23600]
(ALS11) FIG4 [HSA:9896] [KO:K22913]
(ALS12) OPTN [HSA:10133] [KO:K19946]
(ALS15) UBQLN2 [HSA:29978] [KO:K04523]
(ALS16) SIGMAR1 [HSA:10280] [KO:K20719]
(ALS18) PFN1 [HSA:5216] [KO:K05759]
(ALS19) ERBB4 [HSA:2066] [KO:K05085]
(ALS20) HNRNPA1 [HSA:3178] [KO:K12741]
(ALS21) MATR3 [HSA:9782] [KO:K13213]
(ALS22) TUBA4A [HSA:7277] [KO:K07374]
(ALS23) ANXA11 [HSA:311] [KO:K17095]
(ALS24) NEK1 [HSA:4750] [KO:K08857]
(ALS25) KIF5A [HSA:3798] [KO:K10396]
(ALS26) TIA1 [HSA:7072] [KO:K13201]
(ALS27) SPTLC1 [HSA:10558] [KO:K00654]
(ALS28) LRP12 [HSA:29967] [KO:K20050]
(ALSPDC) TRPM7 [HSA:54822] [KO:K04982]
(ALSPDC) MAPT [HSA:4137] [KO:K04380]
H00060 Dentatorubropallidoluysian atrophy (DRPLA) ... in the atrophin 1 gene and shows various combinations of clinical symptoms depending on the age of onset. The clinical features of DRPLA include progressive myoclonus, seizure, and mental retardation in ... Neurodegenerative disease ATN1 (CAG repeat expansion) [HSA:1822] [KO:K05626]
H00065 Alexander disease ... but often fatal neurological disorder that has been divided into three subtypes based on the age of onset: the infantile, juvenile and adult forms. The characteristic neuropathological feature of all forms ... Neurodegenerative disease GFAP (mutation) [HSA:2670] [KO:K05640]
H00074 Canavan disease ... mutations of the gene encoding aspartoacylase (ASPA). In humans, the CD syndrome is marked by early onset, hydrocephalus, macroencephaly, psychomotor retardation, and spongiform myelin sheath vacuolization ... Inherited metabolic disorder ASPA [HSA:443] [KO:K01437]
H00076 Cockayne syndrome ... the gene encoding the group 8 excision-repair cross-complementing protein (ERCC8) is early childhood onset in the second year of life. CSB caused by mutation in the ERCC6 gene is late childhood onset with ... Neurodegenerative disease (CSA) ERCC8 [HSA:1161] [KO:K10570]
(CSB) ERCC6 [HSA:2074] [KO:K10841]
(XPB/CS) ERCC3 [HSA:2071] [KO:K10843]
(XPF/CS) ERCC4 [HSA:2072] [KO:K10848]
(XPG/CS) ERCC5 [HSA:2073] [KO:K10846]
H00085 Agammaglobulinemias ... consists of agammaglobulinaemias (AGM). Defects in early B cell development are characterized by the onset of recurrent bacterial infections in the first 5 years of life, profound hypogammaglobulinemia, markedly ... 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]
H00088 Common variable immunodeficiency ... variable immunodeficiency (CVID). Category (c) CVID, also called acquired hypogammaglobulinemia, adult-onset hypogammaglobulinemia, or dysgammaglobulinemia, is a heterogeneous group of disorders involving both ... 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]
H00091 T-B+Severe combined immunodeficiency ... immunodeficiency (SCID) comprises a heterogeneous group of monogenic disorders that result in early-onset severe infections by a range of pathogens (such as bacteria, viruses and fungi). Typically, patients ... 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 ... immunodeficiency (SCID) comprises a heterogeneous group of monogenic disorders that result in early-onset severe infections by a range of pathogens (such as bacteria, viruses and fungi). Typically, patients ... 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]
H00096 Defects of toll-like receptor signaling ... stimulation with known TLR agonists. Despite the broad impairment at the two subsequent levels of onset (TLR) and propagation (IL-1R) of inflammation, the clinical phenotype of IRAK-4 deficiency is relatively ... 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]
H00137 Niemann-Pick disease type A/B ... a rapidly progressive neurodegenerative course that leads to early death. Type B NPD is the later-onset form in which patients exhibit little or no neurological symptoms, but may have severe and progressive ... Inherited metabolic disorder, Lysosomal disease SMPD1 [HSA:6609] [KO:K12350]
H00142 Sialidosis
Mucolipidosis I 		... 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 the severe form with infantile onset. Inherited metabolic disorder, Lysosomal disease NEU1 [HSA:4758] [KO:K01186]
H00146 Alpha-N-acetylgalactosaminidase deficiency ... characterized by mental retardation, spasticity ,and myoclonus. Type 2, known as Kanzaki disease, is an adult-onset disorder characterized by angiokeratoma corporis diffusum and mild intellectual impairment. Type ... Inherited metabolic disorder, Lysosomal disease NAGA [HSA:4668] [KO:K01204]
H00147 Sialuria ... results in excessive lysosomal storage of free sialic acid. ISSD has a severe phenotype with infantile onset, while the SD has a milder phenotype with later onset. Both disorders cause developmental delay, ... Inherited metabolic disorder, Lysosomal disease (SD, ISSD) SLC17A5 [HSA:26503] [KO:K12301]
(French type) GNE [HSA:10020] [KO:K12409]
H00149 Neuronal ceroid lipofuscinosis ... such as retinopathy, epilepsy, and dementia. Historically, the NCLs were classified by age of disease onset as congenital NCL, infantile NCL (INCL), late infantile NCL (LINCL), juvenile NCL (JNCL) or adult ... 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]
H00204 Heimler syndrome ... by sensorineural hearing loss, amelogenesis imperfecta, nail abnormalities, and occasional or late-onset retinal pigmentation. It has been reported that HS is caused by hypomorphic mutations in the peroxisome ... Inherited metabolic disorder, Peroxisomal disease (HMLR1) PEX1 [HSA:5189] [KO:K13338]
(HMLR2) PEX6 [HSA:5190] [KO:K13339]
H00270 Periventricular nodular heterotopia Periventricular nodular heterotopia (PVNH) is a malformation of neuronal migration in which a subset of neurons fails to migrate into the developing cerebral cortex and composes heterotopic nodules along ... Congenital malformation (PVNH1) FLNA [HSA:2316] [KO:K04437]
(PVNH2) ARFGEF2 [HSA:10564] [KO:K18442]
(PVNH6) ERMARD [HSA:55780] [KO:K25139]
(PVNH7) NEDD4L [HSA:23327] [KO:K13305]
(PVNH8) ARF1 [HSA:375] [KO:K07937]
(PVNH9) MAP1B [HSA:4131] [KO:K10429]
H00285 Blau syndrome Blau syndrome is an autosomal dominantly-inherited disease which is presented with triad of juvenile-onset granulomatous arthritis, uveitis, and skin rashes. Inflammation of the eyes, camptodactyly and lymphaedenopathy ... Immune system disease NOD2 [HSA:64127] [KO:K10165]
H00287 Pyogenic sterile arthritis, pyoderma gangrenosum, and acne syndrome ... 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. Patients typically ... Immune system disease PSTPIP1 [HSA:9051] [KO:K12804]
H00300 Enterobacter infection Enterobacter infections are commonly found in nosocomial settings and Enterobacter spp. have been recognized as increasingly important pathogens. They are intrinsically resistant to aminopenicillins, cefazolin ... Bacterial infectious disease
H00302 Citrobacter infection ... Among them, C. koseri is an important cause of neonatal meningitis and brain abscess formation. Neonates may acquire C. koseri horizontally in hospital settings or vertically from the mother at delivery. Bacterial infectious disease
H00330 Methicillin-resistant Staphylococcal aureus (MRSA) infection ... hospital environment, particularly in intensive care units (ICUs). Originally limited to the hospital setting, MRSA is a growing cause of infections in the community. Community-associated MRSA (CA-MRSA) ... Bacterial infectious disease hsa05150 Staphylococcus aureus infection
H00351 Chlamydial pneumonia ... or mildly symptomatic. Repeated or prolonged exposure to Cp. pneumoniae is associated with asthmatic bronchitis and asthma, and chronic infection can contribute to the development of adult-onset asthma. Bacterial infectious disease
H00363 Candidiasis ... albicans. Invasive candidiasis is a major cause of morbidity and mortality in the intensive care unit (ICU) setting, causing bloodstream infections. Recently, various non-C. albicans species have emerged as infecting ... Fungal infectious disease
H00392 VLCAD deficiency
Very long-chain acyl-CoA dehydrogenase deficiency 		... error of fatty acid oxidation. Three phenotypes of VLCAD deficiency have been identified; an early onset, insidious type that causes a potentially lethal cardiomyopathy, a later onset type that presents ... Inherited metabolic disorder ACADVL [HSA:37] [KO:K09479]
H00399 Avian influenza
Bird flu
H5N1 flu 		... sporadic infections in humans, mostly as a result of direct contact with infected birds. H5N1 high pathogenicity avian influenza virus causes a rapid onset of severe viral pneumonia and is highly fatal. Viral infectious disease hsa05164 Influenza A
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]
H00425 Lysosomal cysteine protease deficiencies ... C leads to Papillon-Lefevre syndrome characterized by palmoplantar hyperkeratosis and severe early onset periodontitis. Deficiency of cathepsin K leads to pycnodysostosis characterized by osteosclerosis ... Inherited metabolic disorder, Lysosomal disease (PLS) CTSC [HSA:1075] [KO:K01275]
(Pycnodysostosis) CTSK [HSA:1513] [KO:K01371]
H00434 Camurati-Engelmann disease
Progressive diaphyseal dysplasia 		... dominant disorder characterized by hyperostosis of the diaphysis of long bones and the skull. The onset of CED is during early childhood with muscle weakness and limb pain. The mutations in TGF-beta 1 ... Congenital malformation TGFB1 [HSA:7040] [KO:K13375]
H00437 Paget disease of bone ... signaling axis with increases in bone resorption. Hearing impairment and tooth loss is common. Apart from juvenile-onset Paget's disease (PDB5), the condition is inherited as an autosomal dominant trait. Musculoskeletal disease (PDB2) TNFRSF11A [HSA:8792] [KO:K05147]
(PDB3) SQSTM1 [HSA:8878] [KO:K14381]
(PDB5) TNFRSF11B [HSA:4982] [KO:K05148]
(PDB6) ZNF687 [HSA:57592] [KO:K24375]
H00448 Familial osteochondritis dissecans
Osteochondritis dissecans, short stature, and early-onset osteoarthritis 		Osteochondritis dissecans is defined as a separation of articular cartilage and subchondral bone from the joint surface, affecting the knee, ankle and elbow joints. The disease is caused by heterozygous ... Musculoskeletal disease ACAN [HSA:176] [KO:K06792]
H00455 Spinal muscular atrophy ... protein, which regulates snRNP assembly. Four types of SMA are recognized depending on the age of onset and the severity of the disease: type I (Werdning-Hoffman), type II (intermediate), type III (Kugeleberg-Welander) ... Neurodegenerative disease (SMA1,2,3,4) SMN1 [HSA:6606] [KO:K13129]
(SMA3) SMN2 [HSA:6607] [KO:K13129]
(SMAX1) AR [HSA:367] [KO:K08557]
(SMAX2) UBA1 [HSA:7317] [KO:K03178]
(SMAX3) ATP7A [HSA:538] [KO:K17686]
(SMAPAD) VAPB [HSA:9217] [KO:K10707]
(SMALED1) DYNC1H1 [HSA:1778] [KO:K10413]
(SMALED2) BICD2 [HSA:23299] [KO:K18739]
(SMAJI) GARS1 [HSA:2617] [KO:K01880]
H00477 Pseudoachondroplasia Pseudoachondroplasia (PSACH) is a condition with short-limb, short stature, joint pain, and early-onset osteoarthrosis caused by epiphyseal ossification delay. PSACH is caused by mutations in COMP. Congenital malformation COMP [HSA:1311] [KO:K04659]
H00481 Cone-rod dystrophy and cone dystrophy ... gradual loss of rod photoreceptor function and retinal degeneration. In COD, cone function decreases progressively from its onset, though rod function is well preserved until the late stages of the disease. Nervous system disease (CORD2) CRX [HSA:1406] [KO:K09337]
(CORD3) ABCA4 [HSA:24] [KO:K05644]
(CORD5) PITPNM3 [HSA:83394] [KO:K24069]
(CORD6/RCD2) GUCY2D [HSA:3000] [KO:K12321]
(CORD7) RIMS1 [HSA:22999] [KO:K15291]
(CORD9) ADAM9 [HSA:8754] [KO:K06834]
(CORD10) SEMA4A [HSA:64218] [KO:K06521]
(CORD11) RAX2 [HSA:84839] [KO:K09333]
(CORD12) PROM1 [HSA:8842] [KO:K06532]
(CORD13) RPGRIP1 [HSA:57096] [KO:K16512]
(CORD14/COD3) GUCA1A [HSA:2978] [KO:K08328]
(CORD15) CDHR1 [HSA:92211] [KO:K16501]
(CORD16) C8orf37 [HSA:157657] [KO:K25226]
(CORD18) RAB28 [HSA:9364] [KO:K07915]
(CORD19) TTLL5 [HSA:23093] [KO:K16602]
(CORD20) POC1B [HSA:282809] [KO:K16482]
(CORD21) DRAM2 [HSA:128338] [KO:K21956]
(CORD22) TLCD3B [HSA:83723] [KO:K26600]
(CORD24) UNC119 [HSA:9094] [KO:K23539]
(CORDX1/COD1) RPGR [HSA:6103] [KO:K19607]
(CORDX3) CACNA1F [HSA:778] [KO:K04853]
(COD4) PDE6C [HSA:5146] [KO:K13757]
(RCD3A) PDE6H [HSA:5149] [KO:K13760]
(RCD3B) KCNV2 [HSA:169522] [KO:K04935]
(RCD4) CACNA2D4 [HSA:93589] [KO:K04861]
H00560 Pseudoxanthoma elasticum ... skin, eyes and the arterial blood vessels. The mutated gene is identified as ABCC6, an ATP-binding cassette transporter. Recently, mutations in the GGCX gene in a family with PXE-like phenotypes have been ... Congenital malformation (PXE) ABCC6 [HSA:368] [KO:K05669]
(PXE) XYLT1 [HSA:64131] [KO:K00771]
(PXE) XYLT2 [HSA:64132] [KO:K00771]
(PXE-like) GGCX [HSA:2677] [KO:K10106]
H00562 Dystrophinopathies ... Becker muscular dystrophy (BMD) is a milder variant of DMD with a better prognosis, with a mean age of onset at 11 years. X-linked dilated cardiomyopathy (XLCM) is a rare disorder with rapidly progressive cardiomyopathy ... Nervous system disease; Musculoskeletal disease DMD [HSA:1756] [KO:K10366]
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