KEGG MEDICUS Search Result

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Entry Name Description Category Pathway Gene
H00041 Kaposi sarcoma Kaposi sarcoma (KS) is an angioproliferative disease classified into classic KS, endemic KS, iatrogenic KS, and HIV-associated KS (HIV-KS), however, they share the same histological traits and are all ... Cancer; Viral infectious disease hsa05167 Kaposi sarcoma-associated herpesvirus infection BCL2 (overexpression) [HSA:596] [KO:K02161]
MYC (overexpression) [HSA:4609] [KO:K04377]
FGF3 (overexpression, mutation) [HSA:2248] [KO:K04358]
KRAS (overexpression, mutation) [HSA:3845] [KO:K07827]
TP53 [HSA:7157] [KO:K04451]
H00042 Glioma Gliomas are the most common of the primary brain tumors and account for more than 40% of all central nervous system neoplasms. Gliomas include tumours that are composed predominantly of astrocytes (astrocytomas) ... 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]
H00043 Neuroblastoma Neuroblastoma is a tumor derived from primitive cells of the sympathetic nervous system and is the most common solid tumor in childhood. Approximately one-half of children have localized tumors that can ... Cancer MYCN (normal/amplified) [HSA:4613] [KO:K09109]
NTRK1 (high/low expression) [HSA:4914] [KO:K03176]
NTRK2 (low/high expression) [HSA:4915] [KO:K04360]
NTRK3 (high/low expression) [HSA:4916] [KO:K05101]
(NBLST1) KIF1B [HSA:23095] [KO:K10392]
(NBLST2) PHOX2B [HSA:8929] [KO:K09330]
(NBLST3) ALK [HSA:238] [KO:K05119]
H00044 Cancer of the anal canal Squamous cell carcinoma of the anal canal accounts for 1.5 per cent of all digestive system cancers in the USA, with an estimated 4,660 new cases and 660 deaths in 2006. Epidemiological and molecular-biology ... Cancer p53 (mutation) [HSA:7157] [KO:K04451]
DCC (mutation) [HSA:1630] [KO:K06765]
APC (mutation) [HSA:324] [KO:K02085]
H00045 Pancreatic neuroendocrine tumor Pancreatic neuroendocrine tumors (PNETs), also known as islet cell tumors, are rare neoplasms that arise in the endocrine tissues of the pancreas. They may occur sporadically or in association with a genetic ... Cancer MEN1 [HSA:4221] [KO:K14970]
DAXX [HSA:1616] [KO:K02308]
ATRX [HSA:546] [KO:K10779]
H00046 Cholangiocarcinoma Cholangiocarcinoma is a highly malignant neoplasm that carries a poor prognosis and lacks effective therapy. It is the second most common primary hepatic tumor, and it is increasing in incidence and carries ... Cancer K-ras (mutation) [HSA:3845] [KO:K07827]
p53 (mutation) [HSA:7157] [KO:K04451]
c-Met (overexpression) [HSA:4233] [KO:K05099]
ERBB2 (overexpression, amplification) [HSA:2064] [KO:K05083]
p16/INK4A (mutation) [HSA:1029] [KO:K06621]
COX2 (overexpression) [HSA:5743] [KO:K11987]
H00047 Gallbladder cancer Gallbladder cancer (GBC) is a relatively uncommon neoplasm, however its prognosis is poor with less than a 5% 5-year survival rate. There are considerable geographic differences in its incidence and etiology ... Cancer p53 (mutation) [HSA:7157] [KO:K04451]
p16/INK4A (mutation) [HSA:1029] [KO:K06621]
K-ras (mutation) [HSA:3845] [KO:K07827]
APC (mutation) [HSA:324] [KO:K02085]
H00048 Hepatocellular carcinoma
Liver cancer 		Hepatocellular carcinoma (HCC) is a major type of primary liver cancer and one of the rare human neoplasms etiologically linked to viral factors. It has been shown that, after HBV/HCV infection and alcohol ... Cancer hsa05225 Hepatocellular carcinoma TGFA (overexpression) [HSA:7039] [KO:K08774]
IGF2 (overexpression) [HSA:3481] [KO:K13769]
IGF1R (overexpression) [HSA:3480] [KO:K05087]
TERT (overexpression) [HSA:7015] [KO:K11126]
FZD7 (overexpression) [HSA:8324] [KO:K02432]
HGF (overexpression) [HSA:3082] [KO:K05460]
MET (mutation, overexpression) [HSA:4233] [KO:K05099]
MYC (amplification) [HSA:4609] [KO:K04377]
RB1 (loss) [HSA:5925] [KO:K06618]
CDKN2A (deletion) [HSA:1029] [KO:K06621]
TGFBR2 (reduced expression) [HSA:7048] [KO:K04388]
TP53 [HSA:7157] [KO:K04451]
PTEN [HSA:5728] [KO:K01110]
CTNNB1 [HSA:1499] [KO:K02105]
AXIN1 [HSA:8312] [KO:K02157]
KEAP1 [HSA:9817] [KO:K10456]
NFE2L2 [HSA:4780] [KO:K05638]
PIK3CA [HSA:5290] [KO:K00922]
ARID1A [HSA:8289] [KO:K11653]
ARID2 [HSA:196528] [KO:K11765]
CASP8 [HSA:841] [KO:K04398]
IGF2R [HSA:3482] [KO:K06564]
H00049 Myxoid liposarcoma Liposarcoma(LS) represents the most common soft-tissue sarcoma of adults and occurs most often in the thigh and retroperitoneum. LSs are subclassified into well-differentiated, myxoid, round cell, and ... Cancer FUS-DDIT3 (translocation) [HSA:1649] [KO:K04452]
EWSR1-DDIT3 (translocation) [HSA:1649] [KO:K04452]
H00050 Synovial sarcoma Synovial sarcomas 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 ... 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 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 ... Cancer ASPSCR1-TFE3 (translocation) [HSA:79058 7030] [KO:K15627 K09105]
H00052 Clear cell sarcoma of soft tissue Soft tissue sarcomas account for only about 1% of all malignant diseases and there are less than 8,700 new cases per year in the United States. Clear cell sarcoma (CCS), a highly malignant tumor of deep ... Cancer EWSR1-ATF1 (translocation) [HSA:466] [KO:K09053]
H00053 Extraskeletal myxoid chondrosarcoma Extraskeletal myxoid chondrosarcoma (EMC) is a unique, rare soft-tissue tumor with prominent myxoid morphology. The tumor most commonly develops in deep parts of the proximal extremities and limb girdles ... Cancer EWSR1-NR4A3 (translocation) [HSA:8013] [KO:K08559]
TAF15-NR4A3 (translocation) [HSA:8013] [KO:K08559]
H00054 Nasopharyngeal cancer Nasopharyngeal carcinoma (NPC) is a rare disease in most parts of the world, with an age-standardised annual incidence of less than 1 per 100000. However, in Southern China, parts of Southeast Asia and ... Cancer (NPCA3) MST1R [HSA:4486] [KO:K05100]
RASSF1 (promoter hypermethylation) [HSA:11186] [KO:K09850]
CDKN2A (promoter hypermethylation) [HSA:1029] [KO:K06621]
BCL2 (overexpression) [HSA:596] [KO:K02161]
EDNRB (promoter hypermethylation) [HSA:1910] [KO:K04198]
CADM1 (promoter hypermethylation) [HSA:23705] [KO:K06781]
CDH1 (decreased expression) [HSA:999] [KO:K05689]
H00055 Laryngeal cancer Laryngeal cancer is one of the most common malignancies in Europe, with about 52,000 new cases per year, 90% of them occurring in men. Smoke and alcohol represent the major behavioral risk factors. Of ... Cancer p53 (mutation) [HSA:7157] [KO:K04451]
p16/INK4A (mutation, LOH, hypermethylation) [HSA:1029] [KO:K06621]
Cyclin D1 (amplification) [HSA:595] [KO:K04503]
EGFR (amplification) [HSA:1956] [KO:K04361]
c-MYC (amplification) [HSA:4609] [KO:K04377]
Cyclin E (amplification) [HSA:898 9134] [KO:K06626]
H00056 Alzheimer disease
Dementia due to Alzheimer disease 		Alzheimer disease (AD) is a chronic disorder that slowly destroys neurons and causes serious cognitive disability. AD is associated with senile plaques and neurofibrillary tangles (NFTs). Amyloid-beta ... 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]
H00057 Parkinson disease Parkinson disease (PD) is a progressive neurodegenerative movement disorder that results primarily from the death of dopaminergic (DA) neurons in the substantia nigra pars compacta (SNc). Both environmental ... Neurodegenerative disease hsa05012 Parkinson disease (PARK1/PARK4) SNCA (duplication, triplication) [HSA:6622] [KO:K04528]
(PARK2) PRKN [HSA:5071] [KO:K04556]
(PARK5) UCHL1 [HSA:7345] [KO:K05611]
(PARK6) PINK1 [HSA:65018] [KO:K05688]
(PARK7) PARK7 [HSA:11315] [KO:K05687]
(PARK8) LRRK2 [HSA:120892] [KO:K08844]
(PARK9) ATP13A2 [HSA:23400] [KO:K13526]
(PARK11) GIGYF2 [HSA:26058] [KO:K18730]
(PARK13) HTRA2 [HSA:27429] [KO:K08669]
(PARK14) PLA2G6 [HSA:8398] [KO:K16343]
(PARK15) FBXO7 [HSA:25793] [KO:K10293]
(PARK17) VPS35 [HSA:55737] [KO:K18468]
(PARK18) EIF4G1 [HSA:1981] [KO:K03260]
(PARK19) DNAJC6 [HSA:9829] [KO:K09526]
(PARK22) CHCHD2 [HSA:51142] [KO:K22758]
(PARK23) VPS13C [HSA:54832] [KO:K19525]
(PARK24) PSAP [HSA:5660] [KO:K12382]
(PARK25) PTPA [HSA:5524] [KO:K17605]
(IDLDP) NR4A2 [HSA:4929] [KO:K08558]
MAPT [HSA:4137] [KO:K04380]
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]
H00059 Huntington disease Huntington disease (HD) is an autosomal-dominant neurodegenerative disorder that primarily affects medium spiny striatal neurons (MSN). The symptoms are choreiform, involuntary movements, personality changes ... Neurodegenerative disease hsa05016 Huntington disease (HD) HTT (CAG repeat expansion) [HSA:3064] [KO:K04533]
H00060 Dentatorubropallidoluysian atrophy (DRPLA) Dentatorubropallidoluysian atrophy (DRPLA) is one of the CAG repeat diseases like Huntington's disease. It is caused by expansion of a CAG repeat in the atrophin 1 gene and shows various combinations of ... Neurodegenerative disease ATN1 (CAG repeat expansion) [HSA:1822] [KO:K05626]
H00061 Prion disease
Creutzfeldt-Jacob disease (CJD)
Gerstmann-Straussler disease (GSD)
Gerstmann-Straussler-Scheinker disease (GSSD)
Fatal familial insomnia (FFI) 		Prion diseases, also termed transmissible spongiform encephalopathies (TSEs), are a group of fatal neurodegenerative diseases that affect humans and a number of other animal species. The etiology of these ... Neurodegenerative disease hsa05020 Prion disease PRNP (mutation) [HSA:5621] [KO:K05634]
H00062 Spinal and bulbar muscular atrophy (SBMA)
Kennedy disease 		Spinal and bulbar muscular atrophy (SBMA), also known as Kennedy disease, is a motor neuron disease characterized by progressive weakening of the limb and bulbar muscles. It is an X-linked recessive disease ... Neurodegenerative disease (SMAX1) AR (CAG repeat expansion) [HSA:367] [KO:K08557]
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]
H00064 Ataxia telangiectasia
Louis-Bar syndrome
Boder-Sedgwick syndrome 		Ataxia-telangiectasia (AT) is an autosomal recessive disorder with a birth frequency of about 1 in 300 000. It is a progressive neurodegenerative disease associated with abnormal eye movements and cutaneous ... Immune system disease; Nervous system disease (AT) ATM [HSA:472] [KO:K04728]
H00065 Alexander disease Alexander disease is a rare, 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 ... Neurodegenerative disease GFAP (mutation) [HSA:2670] [KO:K05640]
H00066 Lewy body dementia (LBD)
Dementia with Lewy bodies (DLB) 		Lewy Body dementia (LDB) is neurodegenerative disease characterized by dementia, mild parkinsonism, and fluctuations in attention and alertness. It is the second most-common degenerative dementia after ... Neurodegenerative disease SNCA (mutation, triplication) [HSA:6622] [KO:K04528]
SNCB (mutation) [HSA:6620] [KO:K24201]
LRRK2 (mutation) [HSA:120892] [KO:K08844]
GBA (mutation) [HSA:2629] [KO:K01201]
H00067 Friedreich ataxia Friedreich ataxia is one of the most common forms of autosomal recessive ataxia caused by severely reduced levels of frataxin as a result of a large GAA triplet-repeat expansion within the first intron ... Neurodegenerative disease FXN (GAA repeat expansion) [HSA:2395] [KO:K19054]
H00068 Leber hereditary optic atrophy
Leber optic atrophy 		Leber hereditary optic neuropathy (LHON) is a maternally transmitted inherited genetic disease underlying mutation of mitochondrial DNA (mtDNA). It is primarily an ophthalmological disorder, presenting ... 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]
H00069 Glycogen storage disease Glycogen storage disease (GSD) is an autosomal recessive (all types except IXa and IXd) or X-linked (types IXa and IXd) disorder with symptoms ranging from weakness to growth abnormalities. GSD is caused ... Inherited metabolic disorder (GSD1A) G6PC1 [HSA:2538] [KO:K01084]
(GSD1B/1C) SLC37A4 [HSA:2542] [KO:K08171]
(GSD2) GAA [HSA:2548] [KO:K12316]
(GSD3) AGL [HSA:178] [KO:K01196]
(GSD4) GBE1 [HSA:2632] [KO:K00700]
(GSD5) PYGM [HSA:5837] [KO:K00688]
(GSD6) PYGL [HSA:5836] [KO:K00688]
(GSD7) PFKM [HSA:5213] [KO:K00850]
(GSD9A) PHKA2 [HSA:5256] [KO:K07190]
(GSD9B) PHKB [HSA:5257] [KO:K07190]
(GSD9C) PHKG2 [HSA:5261] [KO:K00871]
(GSD9D) PHKA1 [HSA:5255] [KO:K07190]
(GSD10) PGAM2 [HSA:5224] [KO:K01834]
(GSDXI/FBS) SLC2A2 [HSA:6514] [KO:K07593]
(GSD11) LDHA [HSA:3939] [KO:K00016]
(GSD12) ALDOA [HSA:226] [KO:K01623]
(GSD13) ENO3 [HSA:2027] [KO:K01689]
(GSD14) PGM1 [HSA:5236] [KO:K01835]
(GSD15) GYG1 [HSA:2992] [KO:K00750]
(GSDH) PRKAG2 [HSA:51422] [KO:K07200]
(GSD0A) GYS2 [HSA:2998] [KO:K00693]
(GSD0B) GYS1 [HSA:2997] [KO:K00693]
H00070 Galactosemia Galactosemia (GALAC) is an autosomal recessive disorder caused by a defect in one of the enzyme genes for galactose metabolism. Newborns with the enzyme deficiency cannot properly metabolize milk sugar ... Inherited metabolic disorder (GALAC1) GALT [HSA:2592] [KO:K00965]
(GALAC2) GALK1 [HSA:2584] [KO:K00849]
(GALAC3) GALE [HSA:2582] [KO:K01784]
(GALAC4) GALM [HSA:130589] [KO:K01785]
H00071 Hereditary fructose intolerance
Fructosemia 		Hereditary fructose intolerance or fructosemia (fructose in the blood) is an autosomal recessive disorder caused by a defect in an aldolase gene (aldolase B), which is normally expressed in liver and kidney ... Inherited metabolic disorder ALDOB [HSA:229] [KO:K01623]
H00072 Pyruvate dehydrogenase complex deficiency Pyruvate dehydrogenase complex deficiency is an autosomal or X-linked recessive disorder caused by deficient enzyme activity in the pyruvate dehydrogenase complex, resulting in deficiency of acetyl CoA ... Inherited metabolic disorder (PDHAD) PDHA1 [HSA:5160] [KO:K00161]
(PDHBD) PDHB [HSA:5162] [KO:K00162]
(PDHDD) DLAT [HSA:1737] [KO:K00627]
(PDHPD) PDP1 [HSA:54704] [KO:K01102]
(PDHXD) PDHX [HSA:8050] [KO:K13997]
(DLDD) DLD [HSA:1738] [KO:K00382]
H00073 Pyruvate carboxylase deficiency Pyruvate carboxylase deficiency is an autosomal recessive disorder caused by deficient activity of pyruvate carboxylase, an enzyme that catalyzes conversion from pyruvate to oxaloacetate. Inherited metabolic disorder PC [HSA:5091] [KO:K01958]
H00074 Canavan disease Canavan disease (CD) is an autosomal recessive neurodegenerative disorder associated with mutations of the gene encoding aspartoacylase (ASPA). In humans, the CD syndrome is marked by early onset, hydrocephalus ... Inherited metabolic disorder ASPA [HSA:443] [KO:K01437]
H00075 Refsum disease
Heredopathia atactica polyneuritiformis 		Refsum disease (RD) is an autosomal recessive sensory motor neuropathy characterized by retinitis pigmentosa, peripheral neuropathy, anosmia, deafness, cerebellar ataxia and elevated protein concentrations ... Inherited metabolic disorder, Peroxisomal disease PHYH [HSA:5264] [KO:K00477]
PEX7 [HSA:5191] [KO:K13341]
H00076 Cockayne syndrome Cockayne syndrome (CS) is a rare recessive disorder characterized by progressive multisystem abnormalities such as postnatal growth deficiency, progressive pigmentary retinopathy, sensorineural hearing ... 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]
H00077 Progressive supranuclear palsy
Steele-Richardson-Olszewski syndrome 		Progressive supranuclear palsy (PSP) is a progressing degenerative disease belonging to the family of tauopathies caused by abnormalities in the microtubule-associated protein, tau. PSP presents with an ... Neurodegenerative disease (PSNP1) MAPT [HSA:4137] [KO:K04380]
H00078 Frontotemporal lobar degeneration Frontotemporal lobar degeneration (FTLD) is a heterogeneous syndrome with the common feature being a relatively selective degeneration of the frontal and temporal lobes. Multiple genes have been implicated ... Neurodegenerative disease (Pick disease/ FTD) MAPT [HSA:4137] [KO:K04380]
(Pick disease/ FTD) PSEN1 [HSA:5663] [KO:K04505]
(FTLDU) GRN [HSA:2896] [KO:K23879]
H00079 Asthma Asthma is a complex syndrome with many clinical phenotypes in both adults and children. Its major characteristics include a variable degree of airflow obstruction, bronchial hyperresponsiveness, and airway ... 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]
H00080 Systemic lupus erythematosus Systemic lupus erythematosus (SLE) is a prototypic autoimmune disease characterised by the production of IgG autoantibodies that are specific for self-antigens, such as DNA, nuclear proteins and certain ... Immune system disease hsa05322 Systemic lupus erythematosus (SLE) PTPN22 [HSA:26191] [KO:K18024]
(SLE) FCGR2A [HSA:2212] [KO:K06472]
(SLE) FCGR2B [HSA:2213] [KO:K12560]
(SLE) CTLA4 [HSA:1493] [KO:K06538]
(SLE) TREX1 [HSA:11277] [KO:K10790]
(SLE) DNASE1 [HSA:1773] [KO:K11994]
(SLEB1) TLR5 [HSA:7100] [KO:K10168]
(SLEB2) PDCD1 [HSA:5133] [KO:K06744]
(SLEB9) CR2 [HSA:1380] [KO:K04012]
(SLEB10) IRF5 [HSA:3663] [KO:K09446]
(SLEB11) STAT4 [HSA:6775] [KO:K11222]
(SLEB16) DNASE1L3 [HSA:1776] [KO:K11995]
(SLEB17) TLR7 [HSA:51284] [KO:K05404]
HLA-DRB1 [HSA:3123] [KO:K06752]
HLA-DQA1 [HSA:3117] [KO:K06752]
HLA-DQB1 [HSA:3119] [KO:K06752]
C2 [HSA:717] [KO:K01332]
C4A [HSA:720] [KO:K03989]
TNF [HSA:7124] [KO:K03156]
FCGR3A [HSA:2214] [KO:K06463]
FCGR3B [HSA:2215] [KO:K06463]
CRP [HSA:1401] [KO:K16143]
ZNF423 [HSA:23090] [KO:K22870]
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