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Entry Name Description Category Pathway Gene
H00286 Crohn disease Crohn disease is a chronic, relapsing inflammatory bowel disease (IBD) characterized by granulomatous inflammation, primarily localized to the terminal ileum. Most patients have involvement of the small ... 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]
H00293 Arrhythmogenic right ventricular cardiomyopathy ... fate of cells. The ryanodine receptor plays a crucial part in electromechanical coupling by control of release of calcium from the sarcoplasmic reticulum into the cytosol. Therefore, defects in this receptor ... Cardiovascular disease hsa05412 Arrhythmogenic right ventricular cardiomyopathy (ARVD1) TGFB3 [HSA:7043] [KO:K13377]
(ARVD2) RYR2 [HSA:6262] [KO:K04962]
(ARVD5) TMEM43 [HSA:79188] [KO:K27488]
(ARVD8) DSP [HSA:1832] [KO:K10381]
(ARVD9) PKP2 [HSA:5318] [KO:K12642]
(ARVD10) DSG2 [HSA:1829] [KO:K07597]
(ARVD11) DSC2 [HSA:1824] [KO:K07601]
(ARVD12) JUP [HSA:3728] [KO:K10056]
(ARVD13) CTNNA3 [HSA:29119] [KO:K05691]
(ARVD14) CDH2 [HSA:1000] [KO:K06736]
H00306 Pasteurellosis Pasteurella species are gram-negative facultative anaerobic bacilli found in the animal's oral cavity. Most human infections are caused by dog or cat bites. Disseminated Pasteurella infections can lead ... Bacterial infectious disease
H00308 Vibrio vulnificus infection ... gram-negative bacillus found in warm coastal waters. It causes two distinct syndromes: a primary septicemia related to seafood consumption and a necrotizing wound infection acquired by exposing open wounds to ... Bacterial infectious disease
H00311 Legionellosis
Legionnaires disease 		... disease (LD), caused by Gram-negative Legionella spp., can be nosocomial, community acquired or travel related. L. pneumophila is the most common cause of LD. The source of LD is potable water systems that ... Bacterial infectious disease hsa05134 Legionellosis TLR5 [HSA:7100] [KO:K10168]
H00320 Helicobacter pylori infection ... can cause inflammation and gastritis that may lead to carcinogenesis. Transmission is still not entirely clarified, but human-to-human spread through oral-oral or fecal-oral route is thought to be the ... Bacterial infectious disease hsa05120 Epithelial cell signaling in Helicobacter pylori infection
H00335 Foodborne Clostridium perfringens intoxication ... causes two different foodborne diseases: Type A food poisoning and Type C food poisoning. Type A causes relatively mild diarrhea common in the industrialized countries, whereas Type C is a rare but very serious ... Bacterial infectious disease
H00339 Botulism ... foodborne, wound, infant botulism, and adult intestinal toxemia. Botulinum toxin blocks acetylcholine release in a dose-dependent fashion, resulting in symmetrical, descending, and progressive muscle weakness ... 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
H00353 Lyme borreliosis
Lyme disease 		Lyme borreliosis is the multisystem infectious disease caused by the tick-borne spirochetes Borrelia. Localized infection is typically manifested by erythema migrans skin lesions. A broad variety of peripheral ... Bacterial infectious disease
H00371 Adenovirus infection ... recognized as etiologic agents of the respiratory and gastrointestinal tracts, eye, and kidney. Ads are rarely associated with severe clinical symptoms in healthy individuals. In contrast, in the pediatric population ... Viral infectious disease
H00378 Lyssavirus infection
Rabies-related virus infection 		... Mononegavirales of -ssRNA viruses. The genus Lyssavirus currently includes rabies virus [DS:H00377] and 6 rabies-related viruses. Rabies-related lyssaviruses utilize mostly bats as their principal reservoir hosts as ... Viral infectious disease
H00380 Tick-borne viral encephalitis Tick-borne viral encephalitis is a group of diseases caused by arboviruses closely related to yellow fever, dengue, Japanese encephalitis, and West Nile viruses. It is the most important viral tick-borne ... Viral infectious disease
H00399 Avian influenza
Bird flu
H5N1 flu 		... in the Orthomyxoviridae family of -ssRNA virus. Influenzavirus A viruses are species specific and rarely cross the species barrier. However, subtypes H5, H7, and H9 have caused sporadic infections in humans ... Viral infectious disease hsa05164 Influenza A
H00403 Disorders of nucleotide excision repair ... years of age is 2,000 times as high as incidence in the general population. Neurodegeneration can be correlated with mutations in specific XP genes (XPA, ERCC3, ERCC2 and ERCC5). Some patients of XP- A develop ... Congenital malformation (XPA) XPA [HSA:7507] [KO:K10847]
(XPB/CS, TTD) ERCC3 [HSA:2071] [KO:K10843]
(XPC) XPC [HSA:7508] [KO:K10838]
(XPD, TTD) ERCC2 [HSA:2068] [KO:K10844]
(XPE) DDB2 [HSA:1643] [KO:K10140]
(XPE-2) DDB1 [HSA:1642] [KO:K10610]
(XPF/CS) ERCC4 [HSA:2072] [KO:K10848]
(XPG/CS, COFS3) ERCC5 [HSA:2073] [KO:K10846]
(XPV) POLH [HSA:5429] [KO:K03509]
(CSA) ERCC8 [HSA:1161] [KO:K10570]
(CSB, DSC, UVS, COFS1) ERCC6 [HSA:2074] [KO:K10841]
(TTD) GTF2H5 [HSA:404672] [KO:K10845]
(COFS4) ERCC1 [HSA:2067] [KO:K10849]
H00405 Marburg disease
Marburg hemorrhagic fever 		... caused by marburgviruses within the genus Marburgvirus in the family Filoviridae of -ssRNA viruses. Related viruses in Filoviridae are the causative agent of Ebola hemorrhagic fever. Marburgvirus was discovered ... Viral infectious disease
H00407 Peroxisomal beta-oxidation enzyme deficiency ... very-long-chain fatty acids (VLCFA), branched-chain fatty acid, and the bile acid synthesis intermediates, rely fully on peroxisomes for beta-oxidation. The enzyme defects result in the accumulation of these ... Inherited metabolic disorder ACOX1 [HSA:51] [KO:K00232]
HSD17B4 [HSA:3295] [KO:K12405]
AMACR [HSA:23600] [KO:K01796]
SCP2 [HSA:6342] [KO:K08764]
H00412 Hepatitis B
Hepatitis B virus (HBV) infection 		... can be caused by blood-borne HBV infections. The risk of developing chronic hepatitis B is directly related to the age of first infection, much higher for infants. Chronic hepatitis B may eventually lead ... Viral infectious disease hsa05161 Hepatitis B IFNAR2 (susceptibility) [HSA:3455] [KO:K05131]
IFNGR1 (susceptibility) [HSA:3459] [KO:K05132]
IL10RB (susceptibility) [HSA:3588] [KO:K05135]
H00427 Relapsing fever Relapsing fever is a bacterial infectious disease caused by spirochaetes belonging to the genus Borrelia and is transmitted by ticks or lice. Louse-borne relapsing fever is now geographically limited, ... Bacterial infectious disease
H00433 Holt-Oram syndrome Holt-Oram syndrome (HOS) is an autosomal-dominant disorder characterized by bilateral forelimb anomalies and congenital heart diseases. All patients with HOS have abnormal carpal bones and about 85% to ... Congenital malformation TBX5 [HSA:6910] [KO:K10179]
H00492 SHOX-related short stature Isolated short stature, Leri-Weill and Langer syndromes are conditions with growth retardation. Patients also exhibit mesomelic shortening in Leri-Weill and Langer syndromes. These conditions are due to ... Congenital malformation SHOX [HSA:6473] [KO:K09331]
H00505 FGFR3-related short limb skeletal dysplasia FGFR3-related short limb skeletal dysplasias are a group of dwarfisms ranging from mild to lethal at the severe end. FGFR3 mutations cause these conditions by disrupting endochondral bone growth. Congenital malformation FGFR3 [HSA:2261] [KO:K05094]
H00513 Transient neonatal diabetes mellitus ... diabetes since no islet cell antibodies or autoimmune phenomenon were found in these patients. 6q24-related TNDM is an imprinting disorder resulting from overexpression of at least two imprinted genes ... Endocrine and metabolic disease (TNDM1) ZFP57 [HSA:346171] [KO:K09228]
(TNDM1) PLAGL1 [HSA:5325] [KO:K19485]
(TNDM2) ABCC8 [HSA:6833] [KO:K05032]
(TNDM3) KCNJ11 [HSA:3767] [KO:K05004]
H00515 Atelosteogenesis type II Atelosteogenesis type II (AO2) is a neonatally lethal chondrodysplasia, characterized by severely shortened limbs, small chest, scoliosis, clubfoot, abducted thumbs and great toes, and cleft palate. AO2 ... Congenital malformation DTDST [HSA:1836] [KO:K14701]
H00523 Noonan syndrome and related disorders ... postnatally reduced growth, distinctive facial dysmorphic features, and congenital heart defects and related disorders show considerable overlapping phenotypes with Noonan syndrome. These disorders are ... Congenital malformation (NS1/LPRD1) PTPN11 [HSA:5781] [KO:K07293]
(NS3/CFC2) KRAS [HSA:3845] [KO:K07827]
(NS4) SOS1 [HSA:6654] [KO:K03099]
(NS5/LPRD2) RAF1 [HSA:5894] [KO:K04366]
(NS6) NRAS [HSA:4893] [KO:K07828]
(NS7/LPRD3/CFC1) BRAF [HSA:673] [KO:K04365]
(NS8) RIT1 [HSA:6016] [KO:K07832]
(NS9) SOS2 [HSA:6655] [KO:K03099]
(NS10) LZTR1 [HSA:8216] [KO:K23330]
(CFC3) MAP2K1 [HSA:5604] [KO:K04368]
(CFC4) MAP2K2 [HSA:5605] [KO:K04369]
(CS) HRAS [HSA:3265] [KO:K02833]
(NFNS) NF1 [HSA:4763] [KO:K08052]
(NSLH1) SHOC2 [HSA:8036] [KO:K19613]
(NSLH2) PPP1CB [HSA:5500] [KO:K06269]
(CBL) CBL [HSA:867] [KO:K04707]
H00524 Scapuloperoneal spinal muscular atrophy Scapuloperoneal spinal muscular atrophy (SPSMA) is one of the TRPV4-related diseases. They are a heterogeneous group of dominantly inherited disorders with muscle weakness. Mutations in TRPV4 have been ... Nervous system disease TRPV4 [HSA:59341] [KO:K04973]
H00530 Joubert syndrome and related disorders Joubert syndrome (JBTS) and related disorders are a group of multiple congenital anomaly syndromes characterized by 'molar tooth sign', a specific midbrain-hindbrain malformation seen in brain images. ... Congenital malformation (JBTS1) INPP5E [HSA:56623] [KO:K20278]
(JBTS2) TMEM216 [HSA:51259] [KO:K19385]
(JBTS3) AHI1 [HSA:54806] [KO:K16740]
(JBTS4) NPHP1 [HSA:4867] [KO:K19657]
(JBTS5) CEP290 [HSA:80184] [KO:K16533]
(JBTS6) TMEM67 [HSA:91147] [KO:K19348]
(JBTS7) RPGRIP1L [HSA:23322] [KO:K16550]
(JBTS8) ARL13B [HSA:200894] [KO:K07962]
(JBTS9) CC2D2A [HSA:57545] [KO:K19352]
(JBTS10) OFD1 [HSA:8481] [KO:K16480]
(JBTS11) TTC21B [HSA:79809] [KO:K19673]
(JBTS12) KIF7 [HSA:374654] [KO:K18806]
(JBTS13) TCTN1 [HSA:79600] [KO:K19382]
(JBTS14) TMEM237 [HSA:65062] [KO:K22765]
(JBTS15) CEP41 [HSA:95681] [KO:K16455]
(JBTS16) TMEM138 [HSA:51524] [KO:K22867]
(JBTS17) CPLANE1 [HSA:65250] [KO:K22859]
(JBTS18) TCTN3 [HSA:26123] [KO:K19382]
(JBTS19) ZNF423 [HSA:23090] [KO:K22870]
(JBTS20) TMEM231 [HSA:79583] [KO:K19362]
(JBTS21) CSPP1 [HSA:79848] [KO:K16771]
(JBTS22) PDE6D [HSA:5147] [KO:K13758]
(JBTS23) JBTS23 [HSA:9786] [KO:K22865]
(JBTS24) TCTN2 [HSA:79867] [KO:K19361]
(JBTS25) CEP104 [HSA:9731] [KO:K16458]
(JBTS26) KATNIP [HSA:23247] [KO:K22858]
(JBTS27) B9D1 [HSA:27077] [KO:K16744]
(JBTS28) MKS1 [HSA:54903] [KO:K19332]
(JBTS29) TMEM107 [HSA:84314] [KO:K22764]
(JBTS30) ARMC9 [HSA:80210] [KO:K22864]
(JBTS31) CEP120 [HSA:153241] [KO:K16459]
(JBTS32) SUFU [HSA:51684] [KO:K06229]
(JBTS33) PIBF1 [HSA:10464] [KO:K16538]
(JBTS34) B9D2 [HSA:80776] [KO:K16745]
(JBTS35) ARL3 [HSA:403] [KO:K07944]
(JBTS36) FAM149B1 [HSA:317662] [KO:K24653]
(JBTS37) TOGARAM1 [HSA:23116] [KO:K24886]
(JBTS38) JBTS38 [HSA:9851] [KO:K21765]
(JBTS39) TMEM218 [HSA:219854] [KO:K26674]
(JBTS40) IFT74 [HSA:80173] [KO:K19679]
H00547 Atrioventricular septal defect
Atrioventricular canal defect 		Atrioventricular septal defect, also known as atrioventricular canal defect or endocardial cushion defect, is a congenital heart malformation involving the interatrial septum, interventricular septum, ... Congenital malformation (AVSD2) CRELD1 [HSA:78987] [KO:K24335]
(AVSD3) GJA1 [HSA:2697] [KO:K07372]
(AVSD4) GATA4 [HSA:2626] [KO:K09183]
(AVSD5) GATA6 [HSA:2627] [KO:K17897]
H00565 Sarcoglycanopathies Sarcoglycanopathies are a group of a four genetically closely related muscular dystrophies with a phenotype often similar to the X-linked Duchenne muscular dystrophy [DS:H00562]. It has been demonstrated ... Nervous system disease; Musculoskeletal disease (LGMD2C) SGCG [HSA:6445] [KO:K12564]
(LGMD2D) SGCA [HSA:6442] [KO:K12565]
(LGMD2E) SGCB [HSA:6443] [KO:K12566]
(LGMD2F) SGCD [HSA:6444] [KO:K12563]
H00568 Myotonic dystrophy ... weakness and wasting, cataract development, testicular atrophy, and cardiac conduction defects. It has an autosomal dominant mode of inheritance and disease severity generally correlates with repeat length. Nervous system disease; Musculoskeletal disease (DM1) DMPK [HSA:1760] [KO:K08788]
(DM2) CNBP [HSA:7555] [KO:K09250]
H00590 Congenital muscular dystrophies (CMD/MDC) ... putative or demonstrated glycosyltransferases, which include POMT1, POMT2, POMGnT1, fukutin, fukutin-related protein (FKRP), Large, and ISPD; defects in ER and nuclear proteins, which are selenoprotein ... Nervous system disease; Musculoskeletal disease (ITGA7-deficient CMD) ITGA7 [HSA:3679] [KO:K06583]
(LMNA-deficient CMD) LMNA [HSA:4000] [KO:K12641]
(MDCDC) TRIP4 [HSA:9325] [KO:K23398]
(MDCMC) CHKB [HSA:1120] [KO:K14156]
(MDCCAID) INPP5K [HSA:51763] [KO:K24222]
(MDRP) BET1 [HSA:10282] [KO:K08504]
H00615 Amelogenesis imperfecta Amelogenesis imperfecta (AI) represents a heterogeneous group of inherited disorders characterized by very thin dental enamel. Defects in mineralization or matrix formation during tooth development lead ... Congenital malformation (AI1A) LAMB3 [HSA:3914] [KO:K06244]
(AI1B/C) ENAM [HSA:10117] [KO:K23444]
(AI1E) AMELX [HSA:265] [KO:K23443]
(AI1F) AMBN [HSA:258] [KO:K23442]
(AI1G) FAM20A [HSA:54757] [KO:K21957]
(AI1H) ITGB6 [HSA:3694] [KO:K06589]
(AI1J) ACP4 [HSA:93650] [KO:K19284]
(AI1K) SP6 [HSA:80320] [KO:K09196]
(AI2A1) KLK4 [HSA:9622] [KO:K08666]
(AI2A2) MMP20 [HSA:9313] [KO:K07999]
(AI2A3) WDR72 [HSA:256764] [KO:K24753]
(AI2A4) ODAPH [HSA:152816] [KO:K24398]
(AI2A5) SLC24A4 [HSA:123041] [KO:K13752]
(AI2A6) GPR68 [HSA:8111] [KO:K08408]
(AI3A) FAM83H [HSA:286077] [KO:K23931]
(AI3B) AMTN [HSA:401138] [KO:K25225]
(AI3C) RELT [HSA:84957] [KO:K05156]
H00616 Bowen-Conradi syndrome Bowen-Conradi syndrome (BCS) is an autosomal-recessive disorder characterized by severely impaired prenatal and postnatal growth, profound psychomotor retardation. Most patients do not survive beyond the ... Ribosomopathy EMG1 [HSA:10436] [KO:K14568]
H00633 Duane retraction syndrome ... absence of outward movement and deficiency of inward movement. Normal ocular motility depends on precise relations between cranial motor neurons and their target, extraocular muscles. In DRS patients, absence ... Nervous system disease (DURS2) CHN1 [HSA:1123] [KO:K20630]
(DURS3) MAFB [HSA:9935] [KO:K09036]
H00653 Marfan syndrome Marfan syndrome (MFS) is a relatively common autosomal dominant disorder of connective tissue. It affects many parts of the body involving the skeletal, ocular, and cardiovascular systems. Cardiac manifestations ... Congenital malformation FBN1 [HSA:2200] [KO:K06825]
H00661 MASS phenotype ... prolapse, Aortic dilatation without dissection, Skeletal and Skin abnormalities) is one of the FBN1-related disorders similar to Marfan syndrome. Reduced expression of FBN1 due to a 4 bp deletion in exon ... Congenital malformation FBN1 [HSA:2200] [KO:K06825]
H00675 Acrocapitofemoral dysplasia ... recessive skeletal dysplasia characterized by short stature with brachydactyly, a narrow thorax, and a relatively large head. Radiographically, cone-shaped epiphyses are present in the hands and hips. Congenital malformation IHH [HSA:3549] [KO:K11989]
H00689 Delayed sleep phase disorder Delayed sleep phase disorder (DSPD) is characterized by a 3 to 6-hour delayed sleep schedule relative to the desired. The single nucleotide polymorphism (Ala129Thr) in Arylalkylamine N-acetyltransferase ... Nervous system disease CRY1 [HSA:1407] [KO:K02295]
H00699 Central core disease ... ryanodine receptor (RYR1) gene, encoding the principal skeletal muscle sarcoplasmic reticulum calcium release channel (RyR1). Altered excitability and/or changes in calcium homeostasis within muscle cells ... Nervous system disease; Musculoskeletal disease RYR1 [HSA:6261] [KO:K04961]
H00701 Congenital fiber type disproportion Congenital fiber type disproportion (CFTD) is a relatively rare subtype of congenital myopathy characterized by hypotonia and generalized muscle weakness. Pathologic diagnosis of CFTD is based on the presence ... Nervous system disease; Musculoskeletal disease ACTA1 [HSA:58] [KO:K10354]
SEPN1 [HSA:57190] [KO:K19874]
TPM3 [HSA:7170] [KO:K09290]
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