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Entry Name Description Category Pathway Gene
H00063 Spinocerebellar ataxia (SCA) The autosomal dominant spinocerebellar ataxias (SCAs) are a group of progressive neurodegenerative diseases characterised by loss of balance and motor coordination due to the primary dysfunction of the ... Neurodegenerative disease hsa05017 Spinocerebellar ataxia (SCA1) ATXN1 [HSA:6310] [KO:K23616]
(SCA2) ATXN2 [HSA:6311] [KO:K23625]
(SCA3) ATXN3 [HSA:4287] [KO:K11863]
(SCA5) SPTBN2 [HSA:6712] [KO:K23932]
(SCA6) CACNA1A [HSA:773] [KO:K04344]
(SCA7) ATXN7 [HSA:6314] [KO:K11318]
(SCA8) ATXN8OS [HSA:6315] [KO:K23933]
(SCA10) ATXN10 [HSA:25814] [KO:K19323]
(SCA11) TTBK2 [HSA:146057] [KO:K08815]
(SCA12) PPP2R2B [HSA:5521] [KO:K04354]
(SCA13) KCNC3 [HSA:3748] [KO:K04889]
(SCA14) PRKCG [HSA:5582] [KO:K19663]
(SCA15/29) ITPR1 [HSA:3708] [KO:K04958]
(SCA17) TBP [HSA:6908] [KO:K03120]
(SCA19/22) KCND3 [HSA:3752] [KO:K04893]
(SCA21) TMEM240 [HSA:339453] [KO:K24870]
(SCA23) PDYN [HSA:5173] [KO:K15840]
(SCA26) EEF2 [HSA:1938] [KO:K03234]
(SCA27A/27B) FGF14 [HSA:2259] [KO:K23920]
(SCA28) AFG3L2 [HSA:10939] [KO:K08956]
(SCA31) BEAN1 [HSA:146227] [KO:K19324]
(SCA34) ELOVL4 [HSA:6785] [KO:K10249]
(SCA35) TGM6 [HSA:343641] [KO:K05624]
(SCA36) NOP56 [HSA:10528] [KO:K14564]
(SCA37) DAB1 [HSA:1600] [KO:K20054]
(SCA38) ELOVL5 [HSA:60481] [KO:K10244]
(SCA40) CCDC88C [HSA:440193] [KO:K25811]
(SCA41) TRPC3 [HSA:7222] [KO:K04966]
(SCA42) CACNA1G [HSA:8913] [KO:K04854]
(SCA43) MME [HSA:4311] [KO:K01389]
(SCA44) GRM1 [HSA:2911] [KO:K04603]
(SCA45) FAT2 [HSA:2196] [KO:K16506]
(SCA46) PLD3 [HSA:23646] [KO:K16860]
(SCA47) PUM1 [HSA:9698] [KO:K17943]
(SCA48) STUB1 [HSA:10273] [KO:K09561]
(SCA49) SAMD9L [HSA:219285] [KO:K23949]
(SCA50) NPTX1 [HSA:4884] [KO:K25709]
H00079 Asthma ... of biologically active mediators (histamine, leukotrienes) by means of degranulation and, so, to the immediate symptoms of allergy. Mast cells also release chemotactic factors that contribute to the recruitment ... Immune system disease hsa05310 Asthma IL4 [HSA:3565] [KO:K05430]
IL4RA [HSA:3566] [KO:K05071]
IL13 [HSA:3596] [KO:K05435]
FCER1B [HSA:2206] [KO:K08090]
TNFA [HSA:7124] [KO:K03156]
ADAM33 [HSA:80332] [KO:K08616]
CD14 [HSA:929] [KO:K04391]
HLA-DRB1 [HSA:3123] [KO:K06752]
HLA-DQB1 [HSA:3119] [KO:K06752]
HLA-G [HSA:3135] [KO:K06751]
ADRB2 [HSA:154] [KO:K04142]
ALOX5 [HSA:240] [KO:K00461]
CCL11 [HSA:6356] [KO:K16597]
MUC7 [HSA:4589] [KO:K13909]
PLA2G7 [HSA:7941] [KO:K01062]
SCGB3A2 [HSA:117156] [KO:K25469]
(ASRT1) PTGDR [HSA:5729] [KO:K04332]
(ASRT2) NPSR1 [HSA:387129] [KO:K08376]
(ASRT5) IRAK3 [HSA:11213] [KO:K04732]
(ASRT7) CHI3L1 [HSA:1116] [KO:K17523]
H00084 Graft-versus-host disease ... immunocompetent donor T cells attack the genetically disparate host cells. GVHD pathophysiology can be summerized in a three-step process. Step 1 involves the development of an inflammatory milieu resulting ... Immune system disease hsa05332 Graft-versus-host disease IL10 [HSA:3586] [KO:K05443]
TNF [HSA:7124] [KO:K03156]
IL1A [HSA:3552] [KO:K04383]
IL1RN [HSA:3557] [KO:K05481]
IFNG [HSA:3458] [KO:K04687]
IL6 [HSA:3569] [KO:K05405]
TGFB1 [HSA:7040] [KO:K13375]
TGFB2 [HSA:7042] [KO:K13376]
TGFB3 [HSA:7043] [KO:K13377]
IL13 [HSA:3596] [KO:K05435]
TNFRSF1B [HSA:7133] [KO:K05141]
IL2 [HSA:3558] [KO:K05429]
H00256 Familial glucocorticoid deficiency ... thrive and shock. The disease is life threatening if untreated. Glucocorticoid replacement is the recommended treatment. It has been reported that FGD is caused by mutation of the ACTH receptor (MC2R) and ... Endocrine and metabolic disease (FGD1) MC2R [HSA:4158] [KO:K04200]
(FGD2) MRAP [HSA:56246] [KO:K22398]
(FGD4) NNT [HSA:23530] [KO:K00323]
(FGD5) TXNRD2 [HSA:10587] [KO:K22182]
H00264 Charcot-Marie-Tooth disease
Hereditary motor and sensory neuropathy 		Charcot-Marie-Tooth (CMT) disease, also called hereditary motor and sensory neuropathy (HMSN), is a group of disorders characterized by a chronic motor and sensory polyneuropathy. Based on nerve conduction ... Neurodegenerative disease (CMT1A/1E) PMP22 [HSA:5376] [KO:K19289]
(CMT1B/2I/2J/4E) MPZ [HSA:4359] [KO:K06770]
(CMT1C) LITAF [HSA:9516] [KO:K19363]
(CMT1D/4E) EGR2 [HSA:1959] [KO:K12496]
(CMT1F/2E/DIG) NEFL [HSA:4747] [KO:K04572]
(CMT1G) PMP2 [HSA:5375] [KO:K24977]
(CMT1H) FBLN5 [HSA:10516] [KO:K17340]
(CMT1I) POLR3B [HSA:55703] [KO:K03021]
(CMT1J) ITPR3 [HSA:3710] [KO:K04960]
(CMT2A1) KIF1B [HSA:23095] [KO:K10392]
(CMT2A2/6) MFN2 [HSA:9927] [KO:K06030]
(CMT2B) RAB7A [HSA:7879] [KO:K07897]
(CMT2B1) LMNA [HSA:4000] [KO:K12641]
(CMT2B2) PNKP [HSA:11284] [KO:K08073]
(CMT2C) TRPV4 [HSA:59341] [KO:K04973]
(CMT2CC) NEFH [HSA:4744] [KO:K04574]
(CMT2D) GARS1 [HSA:2617] [KO:K01880]
(CMT2DD) ATP1A1 [HSA:476] [KO:K01539]
(CMT2EE) MPV17 [HSA:4358] [KO:K13348]
(CMT2F) HSPB1 [HSA:3315] [KO:K04455]
(CMT2FF) CADM3 [HSA:57863] [KO:K06780]
(CMT2GG) GBF1 [HSA:8729] [KO:K18443]
(CMT2HH) JAG1 [HSA:182] [KO:K06052]
(CMT2II) SLC12A6 [HSA:9990] [KO:K14427]
(CMT2K/4A/RIA) GDAP1 [HSA:54332] [KO:K22077]
(CMT2K) JPH1 [HSA:56704] [KO:K19530]
(CMT2L) HSPB8 [HSA:26353] [KO:K08879]
(CMT2M/DIB) DNM2 [HSA:1785] [KO:K23484]
(CMT2N) AARS1 [HSA:16] [KO:K01872]
(CMT2O) DYNC1H1 [HSA:1778] [KO:K10413]
(CMT2P) LRSAM1 [HSA:90678] [KO:K10641]
(CMT2Q) DHTKD1 [HSA:55526] [KO:K15791]
(CMT2R) TRIM2 [HSA:23321] [KO:K11997]
(CMT2S) IGHMBP2 [HSA:3508] [KO:K19036]
(CMT2T) MME [HSA:4311] [KO:K01389]
(CMT2U) MARS1 [HSA:4141] [KO:K01874]
(CMT2V) NAGLU [HSA:4669] [KO:K01205]
(CMT2W) HARS1 [HSA:3035] [KO:K01892]
(CMT2X) SPG11 [HSA:80208] [KO:K19026]
(CMT2Y) VCP [HSA:7415] [KO:K13525]
(CMT2Z) MORC2 [HSA:22880] [KO:K24135]
(CMT4B1) MTMR2 [HSA:8898] [KO:K18081]
(CMT4B2) SBF2 [HSA:81846] [KO:K18061]
(CMT4B3) SBF1 [HSA:6305] [KO:K18061]
(CMT4C/MNMN) SH3TC2 [HSA:79628] [KO:K24313]
(CMT4D) NDRG1 [HSA:10397] [KO:K18266]
(CMT4F) PRX [HSA:57716] [KO:K27395]
(CMT4H) FGD4 [HSA:121512] [KO:K05723]
(CMT4J) FIG4 [HSA:9896] [KO:K22913]
(CMT4K) SURF1 [HSA:6834] [KO:K14998]
(CMT6B) SLC25A46 [HSA:91137] [KO:K03454]
(CMT6C) PDXK [HSA:8566] [KO:K00868]
(CMTX1) GJB1 [HSA:2705] [KO:K07620]
(CMTX5) PRPS1 [HSA:5631] [KO:K00948]
(CMTX6) PDK3 [HSA:5165] [KO:K00898]
(CMTDIC) YARS1 [HSA:8565] [KO:K01866]
(CMTDIE) INF2 [HSA:64423] [KO:K23958]
(CMTDIF) GNB4 [HSA:59345] [KO:K04538]
(CMTRIB) KARS1 [HSA:3735] [KO:K04567]
(CMTRIC) PLEKHG5 [HSA:57449] [KO:K19464]
(CMTRID) COX6A1 [HSA:1337] [KO:K02266]
H00309 Multidrug-resistant Acinetobacter infection ... cause bacteremia, pneumonia, meningitis, urinary tract infection, wound infection, and nosocomial infections. Isolates resistant to almost all commercially available antimicrobials have been identified. Bacterial infectious disease
H00321 Campylobacter infection
Campylobacteriosis 		... infection is a diarrhoeal disease most commonly caused by Campylobacter jejuni. Campylobacter is a commensal microorganism of the gastrointestinal tract of many wild animals, farm animals, and companion ... Bacterial infectious disease
H00339 Botulism ... intestinal toxemia. Botulinum toxin blocks acetylcholine release in a dose-dependent fashion, resulting in symmetrical, descending, and progressive muscle weakness. Delay in treatment may allow progression of paralysis Bacterial infectious disease
H00597 Snyder-Robinson syndrome ... X-linked recessive disease which causes mild-to-moderate mental retardation, osteoporosis, facial asymmetry, thin habitus, hypotonia, and a nonspecific movement disorder. This syndrome is caused by missense ... Congenital malformation SMS [HSA:6611] [KO:K00802]
H00626 Focal segmental glomerulosclerosis ... associations, including genetic mutations in podocyte-associated proteins, viruses, and drug toxicities. For the initial treatment of FSGS, corticosteroid and immunosuppressive therapy is recommended. Urinary system disease (FSGS1) ACTN4 [HSA:81] [KO:K05699]
(FSGS2) TRPC6 [HSA:7225] [KO:K04969]
(FSGS3) CD2AP [HSA:23607] [KO:K13738]
(FSGS4) APOL1 [HSA:8542] [KO:K23585]
(FSGS5) INF2 [HSA:64423] [KO:K23958]
(FSGS6) MYO1E [HSA:4643] [KO:K10356]
(FSGS7) PAX2 [HSA:5076] [KO:K15608]
(FSGS8) ANLN [HSA:54443] [KO:K18621]
(FSGS9) CRB2 [HSA:286204] [KO:K16681]
(FSGS10) LMX1B [HSA:4010] [KO:K09371]
(FSGSNEDS) TRIM8 [HSA:81603] [KO:K12001]
H00652 Solitary median maxillary central incisor syndrome ... (SMMCI) syndrome is a rare dental anomaly characterized by the presence of a central incisor with symmetric crown form positioned at the maxillary mid-axis. Missense mutations in the SHH, a key player ... Congenital malformation SHH [HSA:6469] [KO:K11988]
H00711 Russell-Silver syndrome
Silver-Russell syndrome 		... intrauterine and postnatal growth retardation, relative macrocephaly, a typical triangular face, asymmetry and further less characteristic features. About 50% of the patients carry (epi)genetic alterations ... Congenital malformation (SRS3) IGF2 [HSA:3481] [KO:K13769]
(SRS4) PLAG1 [HSA:5324] [KO:K19484]
(SRS5) HMGA2 [HSA:8091] [KO:K09283]
H00880 Dyschromatosis symmetrica hereditaria Dyschromatosis symmetrica hereditaria (DSH) is a pigmentary genodermatosis of autosomal dominant inheritance. It presents in infancy or early childhood as a mixture of hyperpigmented and hypopigmented ... Skin disease ADAR [HSA:103] [KO:K12968]
H00957 Fleck corneal dystrophy
Francois-Neetens speckled corneal dystrophy 		... dystrophy (FCD) is a rare corneal dystrophy characterized by multiple asymptomatic, non-progressive symmetric minute opacities disseminated throughout the corneal stroma. FCD does not affect vision and does ... Nervous system disease PIP5K3 [HSA:200576] [KO:K00921]
H00963 Congenital hereditary endothelial dystrophy ... dystrophy (CHED) is a rare inheritable disorder of the corneal endothelium characterized by bilateral symmetric corneal clouding (edema) with varied severity from mild opacification to milky, ground-glass ... Nervous system disease SLC4A11 [HSA:83959] [KO:K13862]
H01059 Capnocytophaga canimorsus infection Capnocytophaga canimorsus is a fastidious, gram-negative commensal bacterium in the normal oral flora of dogs and cats. The bacterium has been isolated from humans infected by dog, or cat bites, scratches ... Bacterial infectious disease
H01072 Moraxella catarrhalis infection ... gram-negative human mucosal pathogen that is morphologically similar to Neisseria spp. It is found as a common commensal of the nasopharynx and can cause upper respiratory tract infections. The infection presents as ... Bacterial infectious disease
H01088 Pigmented paravenous chorioretinal atrophy ... chorioretinal atrophy (PPCRA) is a rare retinal disorder characterized by the presence of bilaterally symmetrical chorioretinal atrophy, with accumulation of bone corpuscle pigmentation along the distribution ... Nervous system disease CRB1 [HSA:23418] [KO:K16681]
H01148 Caulobacter infection The genus Caulobacter is a gram-negative bacterium characterized by asymmetric cell division and stalk. Although infection with Caulobacter species is rare, a case has been reported in a patient undergoing ... Bacterial infectious disease
H01175 Staphylococcal infection Staphylococci are widespread as commensals of humans and animals where they colonize the skin or mucous membranes. Firstly, Staphylococcus lugdunensis is a most unusual coagulase-negative staphylococcus ... Bacterial infectious disease
H01176 Uncomplicated urinary tract infection Staphylococci are widespread as commensals of humans and animals where they colonize the skin or mucous membranes. Staphylococcus saprophyticus is a coagulase-negative Staphylococcus, gram-positive uropathogen ... Bacterial infectious disease
H01177 Infantile bilateral striatal necrosis Infantile bilateral striatal necrosis (IBSN) is a neurological disorder characterized by symmetrical degeneration of the caudate nucleus, putamen, and occasionally the globus pallidus, with little involvement ... Nervous system disease NUP62 [HSA:23636] [KO:K14306]
MT-ATP6 [HSA:4508] [KO:K02126]
H01194 X-linked chondrodysplasia punctata ... prominent around the vertebral column, pelvis, and long bones. Additionally, CDPX2 patients may have asymmetric rhizomesomelia, sectorial cataracts, patchy alopecia, ichthyosis, and atrophoderma. It has been ... Congenital malformation (CDPX1) ARSL [HSA:415] [KO:K18222]
(CDPX2) EBP [HSA:10682] [KO:K01824]
H01230 Adult-onset autosomal dominant leukodystrophy ... autosomal dominant leukodystrophy (ADLD) is a slowly progressive neurological disorder characterized by symmetrical widespread myelin loss in the central nervous system. Although a phenotype is similar to that ... Nervous system disease LMNB1 [HSA:4001] [KO:K07611]
H01327 Herpangina Herpangina is a mouth infection caused by coxsackieviruses in the genus Enterovirus, the family Picornaviridae of +ssRNA viruses, affecting mostly children in summer. Viral infectious disease
H01339 Asymptomatic bacteriuria ... bacteriuria has been attracting attention as a model to study mechanisms underlying the development of commensalism. Escherichia coli strain 83972 was isolated from the urine of a Swedish patient who was colonized ... Bacterial infectious disease
H01354 Leigh syndrome Leigh syndrome is a severe neurological disorder, characterized by bilaterally symmetrical necrotic lesions in the basal ganglia and brainstem. Most frequently the central nervous system is affected, with ... Inherited metabolic disorder, Mitochondrial disease NDUFS3 [HSA:4722] [KO:K03936]
NDUFS4 [HSA:4724] [KO:K03937]
NDUFS7 [HSA:374291] [KO:K03940]
NDUFS8 [HSA:4728] [KO:K03941]
NDUFA2 [HSA:4695] [KO:K03946]
NDUFA9 [HSA:4704] [KO:K03953]
NDUFA10 [HSA:4705] [KO:K03954]
NDUFA12 [HSA:55967] [KO:K11352]
NDUFAF2 [HSA:91942] [KO:K18160]
NDUFAF6 [HSA:137682] [KO:K18163]
FOXRED1 [HSA:55572] [KO:K18166]
SDHA [HSA:6389] [KO:K00234]
COX10 [HSA:1352] [KO:K02257]
COX15 [HSA:1355] [KO:K02259]
SURF1 [HSA:6834] [KO:K14998]
BCS1L [HSA:617] [KO:K08900]
TACO1 [HSA:51204] [KO:K18189]
(LSFC) LRPPRC [HSA:10128] [KO:K17964]
H01409 Methicillin-sensitive Staphylococcus aureus (MSSA) infection Staphylococcus aureus is a Gram-positive human commensal bacterium persistently colonizing the anterior nares of about 30% of the human population. Methicillin-resistant S. aureus (MRSA) is known to have ... Bacterial infectious disease hsa05150 Staphylococcus aureus infection
H01459 Diabetic neuropathy ... are nerve-damaging disorders caused by diabetes. Diabetic neuropathy broadly comprises generalized symmetric polyneuropathies (acute sensory, chronic sensorimotor, autonomic) and asymmetric (focal and multifocal) ... Endocrine and metabolic disease; Nervous system disease VEGFA (polymorphism) [HSA:7422] [KO:K05448]
H01490 Multiple sclerosis ... and might fail to adequately control disease activity in some patients. In that case, it has been recommended to switch these patients early to a therapy of higher efficacy. Currently, 13 different drugs ... Immune system disease (MS) PDCD1 [HSA:5133] [KO:K06744]
(MS) HLA-DRB1 [HSA:3123] [KO:K06752]
(MS) HLA-DQB1 [HSA:3119] [KO:K06752]
(MS5) TNFRSF1A [HSA:7132] [KO:K03158]
H01494 SEMD with joint laxity type ... ligamentous laxity that result in spinal misalignment and progressive severe kyphoscoliosis, thoracic asymmetry, and respiratory compromise resulting in early death. The individuals with SEMDJL2 was identified ... Congenital malformation (SEMDJL1) B3GALT6 [HSA:126792] [KO:K00734]
(SEMDJL2) KIF22 [HSA:3835] [KO:K10403]
(SEMDJL3) EXOC6B [HSA:23233] [KO:K19985]
H01505 Inclusion body myositis ... deposits in muscle tissue. It typically presents with chronic insidious proximal leg and/or distal arm asymmetric muscle weakness leading to recurrent falls and loss of dexterity. Creatine kinase (CK) is elevated ... Nervous system disease; Musculoskeletal disease
H01512 Langerhans cell histiocytosis ... evidence supports a model in which LCH occurs as a consequence of a misguided differentiation programme of myeloid dendritic cell precursors. In LCH, there is a very high frequency of activating mutations ... Cancer BRAF (mutation) [HSA:673] [KO:K04365]
MAP2K1 (mutation) [HSA:5604] [KO:K04368]
H01527 Chronic inflammatory demyelinating polyradiculoneuropathy ... persistently disabled. The core clinical features are a chronic progressive or relapsing and remitting, symmetrical, and sensory and motor polyradiculoneuropathy causing weakness of proximal and distal muscles ... Immune system disease; Nervous system disease
H01528 Neuroleptic malignant syndrome ... elevation of serum creatine phosphokinase (CK), liver enzymes, and leukocitosis. Treatment includes immediately stopping the offending agent and implementing supportive measures, as well as pharmacological ... Nervous system disease
H01573 Zimmermann-Laband syndrome Zimmermann-Laband syndrome (ZLS) is a rare craniofacial malformation syndrome with predominant intraoral involvement consisting in diffuse gingival fibromatosis of early onset. Most cases are sporadic ... Congenital malformation (ZLS1) KCNH1 [HSA:3756] [KO:K04904]
(ZLS2) ATP6V1B2 [HSA:526] [KO:K02147]
(ZLS3) KCNN3 [HSA:3782] [KO:K04944]
H01574 Familial idiopathic basal ganglia calcification
Bilateral striopallidodentate calcinosis (BSPDC)
Fahr disease 		... calcification (IBGC), also known as Fahr disease, is an inherited neurological disorder characterized by symmetrical calcification of cerebral structures lacking known metabolic causes such as calcium or phosphorus ... Nervous system disease (IBGC1) SLC20A2 [HSA:6575] [KO:K14640]
(IBGC4) PDGFRB [HSA:5159] [KO:K05089]
(IBGC5) PDGFB [HSA:5155] [KO:K17386]
(IBGC6) XPR1 [HSA:9213] [KO:K24195]
(IBGC7) MYORG [HSA:57462] [KO:K24727]
(IBGC8) JAM2 [HSA:58494] [KO:K06735]
(IBGC9) NAA60 [HSA:79903] [KO:K21121]
H01579 Congenital symmetric circumferential skin creases
Kunze-Riehm syndrome
Michelin tire baby syndrome 		Congenital symmetric circumferential skin creases, also known as Michelin tire baby syndrome, is a rare genetic disorder characterized by generalized folding of excess skin. This feature was first described ... Congenital malformation (CSCSC1) TUBB [HSA:203068] [KO:K07375]
(CSCSC2) MAPRE2 [HSA:10982] [KO:K10436]
H01582 Pellagra ... digestive disturbances and psychiatric distress. The dermatitis caused by pellagra is a bilaterally symmetrical eruption at cutaneous sites of solar exposure. It tends to be painful to touch during the acute ... Endocrine and metabolic disease
H01594 Myasthenia gravis ... leading to muscle weakness and fatigability. Some, but not all, muscles are affected and not necessarily symmetrically. Increased weakness with continued muscle activity represents a diagnostic clue for MG, but ... Immune system disease; Nervous system disease
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