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| Entry | Name | Description | Category | Pathway | Gene |
|---|---|---|---|---|---|
| H00004 | Chronic myeloid leukemia | ... a molecular rearrangement between the c-ABL proto-oncogene on chromosome 9 and the BCR (breakpoint cluster region) gene on chromosome 22. The BCR/ABL fusion gene encodes p210 BCR/ABL, an oncoprotein, which ... | Cancer | hsa05220 Chronic myeloid leukemia |
BCR-ABL (translocation) [HSA:613 25] [KO:K08878 K06619] MECOM (overexpression) [HSA:2122] [KO:K04462] RUNX1 (translocation) [HSA:861] [KO:K08367] CDKN2A [HSA:1029] [KO:K06621] TP53 [HSA:7157] [KO:K04451] RB1 [HSA:5925] [KO:K06618] |
| H00013 | Small cell lung cancer | Lung cancer is a leading cause of cancer death among men and women in industrialized countries. Small cell lung carcinoma (SCLC) is a highly aggressive neoplasm, which accounts for approximately 25% of ... | Cancer | hsa05222 Small cell lung cancer |
MYC (amplification) [HSA:4609] [KO:K04377] BCL2 (overexpression) [HSA:596] [KO:K02161] FHIT [HSA:2272] [KO:K01522] TP53 [HSA:7157] [KO:K04451] RB1 [HSA:5925] [KO:K06618] PTEN [HSA:5728] [KO:K01110] PPP2R1B [HSA:5519] [KO:K03456] |
| H00014 | Non-small cell lung cancer | Lung cancer is a leading cause of cancer death among men and women in industrialized countries. Non-small-cell lung cancer (NSCLC) accounts for approximately 85% of lung cancer and represents a heterogeneous ... | Cancer | hsa05223 Non-small cell lung cancer |
EML4-ALK (translocation) [HSA:238] [KO:K05119] CD74-ROS1,SLC34A2-ROS1 (translocation) [HSA:6098] [KO:K05088] KIF5B-RET (inversion) [HSA:5979] [KO:K05126] RARB (promoter hypermethylation) [HSA:5915] [KO:K08528] RASSF1 (promoter hypermethylation) [HSA:11186] [KO:K09850] KRAS [HSA:3845] [KO:K07827] EGFR [HSA:1956] [KO:K04361] FHIT [HSA:2272] [KO:K01522] CDKN2A [HSA:1029] [KO:K06621] TP53 [HSA:7157] [KO:K04451] MET [HSA:4233] [KO:K05099] BRAF [HSA:673] [KO:K04365] PIK3CA [HSA:5290] [KO:K00922] IRF1 [HSA:3659] [KO:K09444] PPP2R1B [HSA:5519] [KO:K03456] |
| H00255 | Hypogonadotropic hypogonadism | ... infectious pituitary lesions, hyperprolactinemia, encephalic trauma, pituitary/brain radiation, exhausting exercise, abusive alcohol or illicit drug intake, and systemic diseases such as hemochromatosis ... | Endocrine and metabolic disease |
(HH1/KAL1) ANOS1 [HSA:3730] [KO:K23413] (HH2/KAL2) FGFR1 [HSA:2260] [KO:K04362] (HH3/KAL3) PROKR2 [HSA:128674] [KO:K08380] (HH4/KAL4) PROK2 [HSA:60675] [KO:K24191] (HH5/KAL5) CHD7 [HSA:55636] [KO:K14437] (HH6/KAL6) FGF8 [HSA:2253] [KO:K04358] (HH7/FEUNS) GNRHR [HSA:2798] [KO:K04280] (HH8) KISS1R [HSA:84634] [KO:K08374] (HH9) NSMF [HSA:26012] [KO:K23844] (HH10) TAC3 [HSA:6866] [KO:K05240] (HH11) TACR3 [HSA:6870] [KO:K04224] (HH12) GNRH1 [HSA:2796] [KO:K05252] (HH13) KISS1 [HSA:3814] [KO:K23140] (HH14) WDR11 [HSA:55717] [KO:K24260] (HH15) HS6ST1 [HSA:9394] [KO:K02514] (HH16) SEMA3A [HSA:10371] [KO:K06840] (HH17) SPRY4 [HSA:81848] [KO:K17385] (HH18) IL17RD [HSA:54756] [KO:K05167] (HH19) DUSP6 [HSA:1848] [KO:K21946] (HH20) FGF17 [HSA:8822] [KO:K04358] (HH21) FLRT3 [HSA:23767] [KO:K16362] (HH22) FEZF1 [HSA:389549] [KO:K24502] (HH23/FEUNS) LHB [HSA:3972] [KO:K08521] (HH24/IFSHD) FSHB [HSA:2488] [KO:K05250] (HH25) NDNF [HSA:79625] [KO:K25687] (HH26) TCF12 [HSA:6938] [KO:K15603] (HH27) NHLH2 [HSA:4808] [KO:K09075] |
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| H00297 | Plague | ... manifestations: bubonic, septicemic, and pneumonic plagues. Severe epidemics in the past include the Plague of Justinian in the sixth century, the Black Death in the fourteenth century, and the Third Pandemic that ... | Bacterial infectious disease | ||
| H00317 | Melioidosis | ... people in regular contact with soil and water and is endemic in areas of Southeast Asia and Northern Australia. There are many possible disease manifestations including melioidosis septic shock, pneumonia ... | Bacterial infectious disease | TLR5 (resistance) [HSA:7100] [KO:K10168] | |
| H00335 | Foodborne Clostridium perfringens intoxication | ... 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 cause of necrotic enteritis. | Bacterial infectious disease | ||
| H00343 | Diphtheria | ... contagious and potentially life-threatening childhood disease caused by Corynebacterium diphtheriae. In industrialized countries, immunization against diphtheria became widespread in the 1940s and the incidence ... | Bacterial infectious disease | ||
| H00348 | Lymphogranuloma venereum | ... L2, L2a and L3 of C. trachomatis are the agents of lymphogranuloma venereum, a disease found in isolated groups of men who have sex with men (MSM) across Western Europe, North America, and Australia. | Bacterial infectious disease | ||
| H00358 |
Chagas disease American trypanosomiasis |
... in Latin American countries. Chagas disease is characterized by an acute phase followed by a chronic phase, with sustained inflammation that causes cardiomyopathy, digestive disorders, and neuropathies. | Parasitic infectious disease | hsa05142 Chagas disease | |
| H00397 | Ross River fever | ... River virus (RRV), an alphavirus in the Togaviridae family of +ssRNA viruses, and transmitted by Aedes and Culex mosquitoes. RRV was first isolated in 1972 near Ross River in North Queensland, Australia. | Viral infectious disease | ||
| H00600 |
Mullerian agenesis Mayer Rokitansky Kuster Hauser syndrome |
Mullerian agenesis, also known as Mayer Rokitansky Kuster Hauser (MRKH) syndrome, is characterized by utero-vaginal atresia in an otherwise phenotypically normal female with a normal 46,XX karyotype. It ... | Reproductive system disease | WNT4 [HSA:54361] [KO:K00408] | |
| H00648 |
Ectodermal dysplasia, Clouston type Clouston syndrome |
Ectodermal dysplasia, Clouston type, also known as Clouston syndrome, is an autosomal dominant disorder characterized by partial or total alopecia, nail dystrophy, hyperkeratosis of the palms and soles ... | Congenital malformation | GJB6 [HSA:10804] [KO:K07625] | |
| H00672 | Pseudofolliculitis barbae | ... disorder occurring predominantly in males of African origin, characterized by acneiform papules and pustules that result in keloidal scarring localized to the facial and submental regions. It is caused ... | Skin disease | KRT75 [HSA:9119] [KO:K07605] | |
| H00678 |
Achondrogenesis type IA Achondrogenesis, Houston-Harris type |
Achondrogenesis type IA is an extremely rare neonatal lethal chondrodysplasia. The disorder shows poorly ossified vertebral bodies/skull and completely lacked columnar-zone of the growth plate cartilage ... | Congenital malformation | TRIP11 [HSA:9321] [KO:K23368] | |
| H00713 | Beckwith-Wiedemann syndrome | ... predisposition, and congenital malformations. It is associated with genetic or epigenetic abnormalities in a cluster of imprinted genes found within a genomic region of approximately one megabase on chromosome 11p15 ... | Congenital malformation |
CDKN1C [HSA:1028] [KO:K09993] IGF2 [HSA:3481] [KO:K13769] KCNQ1 [HSA:3784] [KO:K04926] |
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| H00769 |
Hyperekplexia Startle disease |
... Hyperekplexia is characterized by neonatal hypertonia and an exaggerated startle reflex in response to acoustic or tactile stimuli. Genetic analysis has revealed mutations in genes for several postsynaptic proteins ... | Nervous system disease |
(HKPX1) GLRA1 [HSA:2741] [KO:K05193] (HKPX2) GLRB [HSA:2743] [KO:K05196] (HKPX3) SLC6A5 [HSA:9152] [KO:K05038] (HKPX4) ATAD1 [HSA:84896] [KO:K22530] |
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| H00831 | Primary dystonia | Dystonias are a heterogeneous group of hyperkinetic movement disorders characterized by involuntary sustained muscle contractions that lead to abnormal postures and repetitive movements. Presently, 30 distinct ... | Nervous system disease |
(DYT1) TOR1A [HSA:1861] [KO:K22990] (DYT2) HPCA [HSA:3208] [KO:K23846] (DYT3) TAF1 [HSA:6872] [KO:K03125] (DYT4) TUBB4A [HSA:10382] [KO:K07375] (DYT5) GCH1 [HSA:2643] [KO:K01495] (DYT6) THAP1 [HSA:55145] [KO:K23203] (DYT8) PNKD [HSA:25953] [KO:K23864] (DYT9) SLC2A1 [HSA:6513] [KO:K07299] (DYT10/EKD1) PRRT2 [HSA:112476] [KO:K23897] (DYT11) SGCE [HSA:8910] [KO:K27061] (DYT12) ATP1A3 [HSA:478] [KO:K01539] (DYT16) PRKRA [HSA:8575] [KO:K24540] (DYT22JO/AO) TSPOAP1 [HSA:9256] [KO:K19922] (DYT24) ANO3 [HSA:63982] [KO:K19498] (DYT25) GNAL [HSA:2774] [KO:K04633] (DYT26) KCTD17 [HSA:79734] [KO:K21914] (DYT27) COL6A3 [HSA:1293] [KO:K06238] (DYT28) KMT2B [HSA:9757] [KO:K14959] (DYT29/DYTOABG) MECR [HSA:51102] [KO:K07512] (DYT30) VPS16 [HSA:64601] [KO:K20180] (DYT31) AOPEP [HSA:84909] [KO:K09606] (DYT32) VPS11 [HSA:55823] [KO:K20179] (DYT33) EIF2AK2 [HSA:5610] [KO:K16195] (DYT34) KCNN2 [HSA:3781] [KO:K04943] (DYT35) SHQ1 [HSA:55164] [KO:K14764] (DYT36/EKD3) TMEM151A [HSA:256472] (DYT37) NUP54 [HSA:53371] [KO:K14308] |
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| H00848 | Ataxia with ocular apraxia | ... Ophthalmic features of AT include conjunctival telangiectasia, strabismus, saccadic dysfunction with head thrusts, and convergence insufficiency. AOA1 is typically characterized by early-onset cerebellar ataxia ... | Nervous system disease |
(AOA1) APTX [HSA:54840] [KO:K10863] (AOA2) SETX [HSA:23064] [KO:K10706] (AOA3) PIK3R5 [HSA:23533] [KO:K21290] (AOA4) PNKP [HSA:11284] [KO:K08073] |
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| H00881 | Li-Fraumeni syndrome | Li-Fraumeni syndrome (LFS) is a familial clustering of early onset tumors including sarcomas, breast cancers, brain tumors and adrenocortical carcinomas (ADR). Initially considered as a rare syndrome, ... | Neoplasm |
(LFS) TP53 [HSA:7157] [KO:K04451] (LFS2) CHEK2 [HSA:11200] [KO:K06641] |
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| H00886 |
Donnai-Barrow syndrome Faciooculoacousticorenal syndrome |
Donnai-Barrow syndrome (DBS) is a rare autosomal recessive disorder of multiple anomalies resulting from mutations in the LRP2 gene. It is characterized by agenesis of the corpus callosum, typical craniofacial ... | Congenital malformation | LRP2 [HSA:4036] [KO:K06233] | |
| H00898 |
Myopathy with lactic acidosis and sideroblastic anaemia Mitochondrial myopathy and sideroblastic anemia Hereditary myopathy with lactic acidosis (HML) |
... aconitase deficiency has been found to be caused by mutations in the gene encoding the iron-sulphur cluster scaffold protein (ISCU). ISCU is essential for the activity of mitochondrial iron-sulphur proteins ... | Inherited metabolic disorder |
(MLASA1) PUS1 [HSA:80324] [KO:K06173] (MLASA2) YARS2 [HSA:51067] [KO:K01866] (HML) ISCU [HSA:23479] [KO:K22068] |
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| H00944 | Dowling-Degos disease | ... mutations in keratin 5 and protein O-fucosyltransferase 1. Small hyperpigmented macules appear in a clustered or reticulated pattern at flexural sites, such as the neck, axilla, and antecubital fossa. There ... | Skin disease |
(DDD1) KRT5 [HSA:3852] [KO:K07605] (DDD2) POFUT1 [HSA:23509] [KO:K03691] (DDD4) POGLUT1 [HSA:56983] [KO:K13667] |
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| H00982 | Sideroblastic anemia | ... Inherited sideroblastic anemia is a rare and heterogeneous disease caused by mutations of genes involved in heme biosynthesis, iron-sulfur cluster biogenesis or transport, and mitochondrial metabolism. | Hematologic disease |
(SIDBA1) ALAS2 [HSA:212] [KO:K00643] (SIDBA2) SLC25A38 [HSA:54977] [KO:K15118] (SIDBA3) GLRX5 [HSA:51218] [KO:K07390] (SIDBA4) HSPA9 [HSA:3313] [KO:K04043] (SIDBA5) HSCB [HSA:150274] [KO:K04082] (ASAT) ABCB7 [HSA:22] [KO:K05662] |
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| H01093 |
Paragonimiasis Pulmonary distomatosis Lung fluke disease Benign endemic hemoptysis |
... with trematodes belonging to the genus Paragonimus. Human infections occur by consuming freshwater crustaceans (second intermediate host) or wild boar meat (paratenic host). Paragonimiasis is generically ... | Parasitic infectious disease | ||
| H01201 |
Jensen syndrome Opticoacoustic nerve atrophy |
Jensen syndrome is X-linked deafness syndromes associated with progressive visual deterioration, dystonia, dementia, and psychiatric abnormalities. Causative mutations were identified within the deafness-dystonia ... | Inherited metabolic disorder, Mitochondrial disease | TIMM8A [HSA:1678] [KO:K17780] | |
| H01234 |
Trimethylaminuria Fish-odor syndrome |
... possibly L-carnitine. In addition, transient TMAU has been reported in a preterm infant who was fed with choline-rich food supplements and has been reported in some women just at the onset of menstruation. | Inherited metabolic disorder | FMO3 [HSA:2328] [KO:K00485] | |
| H01275 |
Interleukin 1 receptor antagonist deficiency Multifocal osteomyelitis with periostitis and pustulosis |
Interleukin 1 receptor antagonist deficiency (DIRA) is a rare autosomal recessive autoinflammatory disease caused by mutations in IL1RN. The absence of interleukin 1 receptor (IL-1R) antagonist allows ... | Immune system disease | IL1RN [HSA:3557] [KO:K05481] | |
| H01335 | Photorhabdus asymbiotica infection | ... both locally invasive soft tissue infection and disseminated disease with bacteraemia. At present, there are 2 recognized subspecies, P. asymbiotica subsp. asymbiotica and P. asymbiotica subsp. australis. | Bacterial infectious disease | ||
| H01353 | Chromobacterium violaceum infection | ... symptoms in most of the cases with fatal results seem to be sepsis, multiple liver abscesses, and diffuse pustular dermatitis. Some studies have reported instances of untreated C. violaceum causing brain abscess ... | Bacterial infectious disease | ||
| H01448 | Hoarding disorder | ... first-line pharmacological and psychological treatments for OCD, however, the results have not been robust. Clinical trial evidence suggests that OCD patients with hoarding symptoms are less responsive to ... | Mental and behavioural disorder | ||
| H01460 |
West syndrome Infantile spasms |
... an infantile epileptic encephalopathy characterized by at least two of the following features: (a) clusters of flexion or extension epileptic spasms, (b) interictal electroencephalographic pattern (hypsarrhythmia) ... | Nervous system disease | ARX [HSA:170302] [KO:K09452] | |
| H01495 | Meniere disease | ... producing dysfunction within the cochlea and peripheral vestibular apparatus. Although the familial clustering and the geographical and racial differences in incidence suggest a certain role for genetic ... | Nervous system disease | ||
| H01510 |
Malignant paraganglioma Pheochromocytoma |
... are thought to be sporadic cases. Sporadic as well as hereditary PGLs have been divided in two main clusters linked to two different signalling pathways: the first cluster contains all VHL-, SDHx-, and FH- ... | Cancer |
SDHD [HSA:6392] [KO:K00237] SDHB [HSA:6390] [KO:K00235] SDHC [HSA:6391] [KO:K00236] NF1 [HSA:4763] [KO:K08052] RET [HSA:5979] [KO:K05126] VHL [HSA:7428] [KO:K03871] TMEM127 [HSA:55654] [KO:K25206] MAX [HSA:4149] [KO:K04453] KIF1B [HSA:23095] [KO:K10392] EPAS1 [HSA:2034] [KO:K09095] FH [HSA:2271] [KO:K01679] |
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| H01519 | Scabies | ... reproducing and laying eggs in the burrows. Transmission of the mite commonly occurs by skin-to-skin contact, but with crusted scabies it may also occur through fomites, such as infected clothing or bedding. | Parasitic infectious disease | ||
| H01536 |
Murray Valley encephalitis Australian encephalitis |
Murray Valley encephalitis, previously known as Australian encephalitis, is an infection of the central nervous system caused by Murray Valley encephalitis virus (MVEV), a flavivirus in the Flaviviridae ... | Viral infectious disease | ||
| H01538 | Hendra virus infection | ... Paramyxoviridae. HeV is a zoonotic virus that emerged in 1994 in the Brisbane suburb of Hendra, Queensland, Australia. HeV causes severe respiratory and neurological disease. The known natural reservoir hosts of ... | Viral infectious disease | ||
| H01588 | Cluster headache | Cluster headache (CH) is the commonest of the trigeminal autonomic cephalalgias (TAC) characterized by attacks of severe, strictly unilateral pain, which is orbital, supraorbital, temporal, or in any combination ... | Nervous system disease | ||
| H01608 |
Cervical dystonia Spasmodic torticollis |
... (CD), formerly referred to as spasmodic torticollis, is a condition characterized by simultaneous and sustained contractions of both agonist and antagonist muscles of the neck, which frequently result in ... | Nervous system disease | ||
| H01611 | Alcohol dependence | ... degradation of alcohol. Recent genome-wide association studies (GWAS) have reported that the most robust associations for AD have been with such enzyme genes, especially ALDH2 in East Asian populations ... | Mental and behavioural disorder | hsa05034 Alcoholism |
ALDH2 [HSA:217] [KO:K00128] ADH1B [HSA:125] [KO:K13951] ADH1C [HSA:126] [KO:K13951] HTR2A [HSA:3356] [KO:K04157] GABRA2 [HSA:2555] [KO:K05175] TAS2R16 [HSA:50833] [KO:K08474] |
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