Search Result |
Top |
| Entry | Name | Description | Category | Pathway | Gene |
|---|---|---|---|---|---|
| H00004 | Chronic myeloid leukemia | ... a triphasic clinical course comprising of an initial chronic phase (CP), which is characterized by expansion of functionally normal myeloid cells, followed by an accelerated phase (AP) and finally a more ... | 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] |
| H00059 | Huntington disease | ... are choreiform, involuntary movements, personality changes and dementia. HD is caused by a CAG repeat expansion in the IT15 gene, which results in a long stretch of polyglutamine (polyQ) close to the amino-terminus ... | 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 clinical symptoms depending ... | Neurodegenerative disease | ATN1 (CAG repeat expansion) [HSA:1822] [KO:K05626] | |
| H00062 |
Spinal and bulbar muscular atrophy (SBMA) Kennedy disease |
... and bulbar muscles. It is an X-linked recessive disease that only affects males. SBMA is caused by expansion of CAG trinucleotide repeats in the first exon of the androgen receptor gene. The expansion ... | Neurodegenerative disease | (SMAX1) AR (CAG repeat expansion) [HSA:367] [KO:K08557] | |
| H00067 | Friedreich ataxia | ... recessive ataxia caused by severely reduced levels of frataxin as a result of a large GAA triplet-repeat expansion within the first intron of the frataxin gene. Frataxin deficiency is thought to cause generation ... | Neurodegenerative disease | FXN (GAA repeat expansion) [HSA:2395] [KO:K19054] | |
| H00084 | Graft-versus-host disease | ... antigen-presenting cells (APCs) trigger the activation of donor-derived T cells, which induce further T-cell expansion, induce cytotoxic T lymphocytes (CTL) and natural killer (NK) cells responses and prime additional ... | 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] |
| H00108 | Autoimmune lymphoproliferative syndromes | ... accumulation of lymphocytes in the spleen and lymph nodes with lymphadenopathy and/or splenomegaly, and expansion of double-negative (DN) T cells in the peripheral blood. Central to the cellular pathogenesis ... | Primary immunodeficiency |
(ALPS1A) FAS [HSA:355] [KO:K04390] (ALPS1B) FASLG [HSA:356] [KO:K04389] (ALPS2A) CASP10 [HSA:843] [KO:K04400] (ALPS2B) CASP8 [HSA:841] [KO:K04398] (ALPS3) PRKCD [HSA:5580] [KO:K06068] (ALPS4) NRAS [HSA:4893] [KO:K07828] (ALPS5) CTLA4 [HSA:1493] [KO:K06538] |
|
| H00403 | Disorders of nucleotide excision repair | ... pigmentosum (XP), Cockayne syndrome (CS) and trichothiodystrophy (TTD). XP is caused by mutations in XPA, ERCC3/XPB, XPC, ERCC2/XPD, DDB2/XPE, ERCC4/XPF, ERCC5/XPG and POLH. XP is classified into eight ... | 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] |
|
| H00425 | Lysosomal cysteine protease deficiencies | ... onset periodontitis. Deficiency of cathepsin K leads to pycnodysostosis characterized by osteosclerosis and short stature. Recent findings suggest a more expanded role for cathepsins in human biology. | Inherited metabolic disorder, Lysosomal disease |
(PLS) CTSC [HSA:1075] [KO:K01275] (Pycnodysostosis) CTSK [HSA:1513] [KO:K01371] |
|
| H00568 | Myotonic dystrophy | ... (DM) is a complex multisystemic disorder linked to two different genetic loci. DM1 is caused by an expansion of a CTG repeat located in the 3' untranslated region (UTR) of DMPK. DM2 is caused by an unstable ... | Nervous system disease; Musculoskeletal disease |
(DM1) DMPK [HSA:1760] [KO:K08788] (DM2) CNBP [HSA:7555] [KO:K09250] |
|
| H00704 | Oculopharyngeal muscular dystrophy | ... and unique tubulofilamentous intranuclear inclusions (INIs) in skeletal muscle. OPMD is caused by expansions of the short (GCG) trinucleotide repeat in the coding sequence of the poly(A) binding protein ... | Nervous system disease; Musculoskeletal disease |
(OPMD1) PABPN1 [HSA:8106] [KO:K14396] (OPMD2) HNRNPA2B1 [HSA:3181] [KO:K13158] |
|
| H01053 | Paroxysmal nocturnal hemoglobinuria | ... nocturnal hemoglobinuria (PNH) is an uncommon intravascular hemolytic anemia that results from the clonal expansion of hematopoietic stem cells harboring somatic mutations in an X-linked gene, termed PIG-A. PIG-A ... | Hematologic disease |
(PNH1) PIGA [HSA:5277] [KO:K03857] (PNH2) PIGT [HSA:51604] [KO:K05292] |
|
| H01180 |
Sveinsson chorioretinal atrophy (SCRA) Helicoid peripapillary chorioretinal degeneration (HPCD) |
... progress throughout life, sometimes leading to central visual loss. Clinical findings suggest that the expansion of the degenerative lesions is caused by dysplastic abnormalities of the peripapillary retinal ... | Nervous system disease | TEAD1 [HSA:7003] [KO:K09448] | |
| H01243 | Huntington disease-like syndrome | Huntington disease (HD), which is caused by a triplet-repeat expansion in the IT15 gene (also known as huntingtin or HD), accounts for about 90% of cases of chorea of genetic etiology. In recent years ... | Neurodegenerative disease |
(HDL1) PRNP [HSA:5621] [KO:K05634] (HDL2) JPH3 [HSA:57338] [KO:K19530] (HDL4) TBP [HSA:6908] [KO:K03120] |
|
| H01244 | T+B+Severe combined immunodeficiencies (SCIDs) | ... with recessive RAG1 hypomorphic mutations. The immunological phenotype consists of the oligoclonal expansion of TCR-gamma/delta T cells combined with TCR-alpha/beta T cell lymphopenia. The clinical phenotype ... | Primary immunodeficiency | RAG-1 [HSA:5896] [KO:K10628] | |
| H01306 | FRA12A mental retardation | FRA12A mental retardation is a rare form of mental retardation caused by expansion of CGG repeat. This repeat is in the 5' untranslated region of the gene DIP2B. It has been suggested that deficiency of ... | Mental and behavioural disorder | DIP2B [HSA:57609] [KO:K24908] | |
| H01428 | Xeroderma pigmentosum | ... individuals with XP under 20 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). | Congenital malformation |
(XPA) XPA [HSA:7507] [KO:K10847] (XPB) ERCC3 [HSA:2071] [KO:K10843] (XPC) XPC [HSA:7508] [KO:K10838] (XPD) ERCC2 [HSA:2068] [KO:K10844] (XPE) DDB2 [HSA:1643] [KO:K10140] (XPF) ERCC4 [HSA:2072] [KO:K10848] (XPG) ERCC5 [HSA:2073] [KO:K10846] (XPV) POLH [HSA:5429] [KO:K03509] |
|
| H01431 | Cushing syndrome | ... adenoma (Cushing's disease) is most common. Most pituitary tumors are sporadic, resulting from monoclonal expansion of a single mutated cell. Recently recurrent activating somatic driver mutations in the ubiquitin-specific ... | Endocrine and metabolic disease | hsa04934 Cushing syndrome |
(MEN1) MEN1 [HSA:4221] [KO:K14970] (MEN4) CDKN1B [HSA:1027] [KO:K06624] (CNC1) PRKAR1A [HSA:5573] [KO:K04739] (PITA1) AIP [HSA:9049] [KO:K17767] (PITA2) GPR101 [HSA:83550] [KO:K08423] (PITA3) GNAS [HSA:2778] [KO:K04632] (PITA4) USP8 [HSA:9101] [KO:K11839] (PITA5) CDH23 [HSA:64072] [KO:K06813] (AIMAH2) ARMC5 [HSA:79798] [KO:K22499] (PPNAD1) PRKAR1A [HSA:5573] [KO:K04739] (PPNAD2) PDE11A [HSA:50940] [KO:K13298] (PPNAD3) PDE8B [HSA:8622] [KO:K18437] (PPNAD4) PRKACA [HSA:5566] [KO:K04345] RASD1 [HSA:51655] [KO:K07843] |
| H01471 | Lymphangioma | ... (cavernous lymphangioma) to large cysts (cystic hygroma). Although histologically benign, these lesions may expand into surrounding tissues and/or infiltrate vital structures similar to malignancies, sometimes ... | Neoplasm | VEGFR-3 (overexpression) [HSA:2324] [KO:K05097] | |
| H01478 |
Machado-Joseph disease Spinocerebellar ataxia 3 |
... clinical diagnosis of MJD. The mean age at onset is around 40 years. MJD is associated with CAG repeat expansions in the ATXN3 gene. CAG repeat varies in size among affected persons. There is no effective ... | Neurodegenerative disease | ATXN3 (CAG repeat expansion) [HSA:4287] [KO:K11863] | |
| H01511 | Mast-cell leukemia | ... leukemia (MCL), the leukemic manifestation of systemic mastocytosis (SM), is characterized by leukemic expansion of immature mast cells (MCs) in the bone marrow (BM) and other internal organs; and a poor prognosis ... | Cancer | KIT (mutation) [HSA:3815] [KO:K05091] | |
| H01582 | Pellagra | ... with poverty and subsistence on nutritionally marginal corn-based diets. In the 1940s and 1950s, with expanded biochemical knowledge, pellagra was reformulated as a deficiency disease due to inadequate niacin ... | Endocrine and metabolic disease | ||
| H01726 | Membranoproliferative glomerulonephritis | ... glomerulonephritis (MPGN) represents a pattern of glomerular injury, characterized by mesangial proliferation and expansion, lobularization of the glomerular tufts, and double contours. Classification of MPGN has been ... | Immune system disease; Urinary system disease |
CFH [HSA:3075] [KO:K04004] CFHR5 [HSA:81494] [KO:K23817] DGKE [HSA:8526] [KO:K00901] |
|
| H01731 | Fragile X tremor/ataxia syndrome | ... tremor/ataxia syndrome (FXTAS) is a neurodegenerative disorder affecting carriers of premutation CGG repeat expansions (range: 55-200) in the fragile X mental retardation 1 (FMR1) gene. Common manifestations of ... | Chromosomal abnormality | FMR1 [HSA:2332] [KO:K15516] | |
| H01849 | Peripheral arteriovenous malformation | ... heart failure. Typically during puberty or adolescence, the initially quiescent lesion progresses to an expansive mass with cosmetic and functional disturbance. With later progression, the AVM destroys normal ... | Congenital malformation | ||
| H01851 | Congenital scoliosis associated with rib anomalies | ... growth of the lungs in young children and lead to a thoracic insufficiency syndrome. The vertebral expandable prosthetic titanium rib (VEPTR) holds the expanded hemithorax. This improves the thoracic height ... | Congenital malformation | ||
| H01920 | Partington syndrome | ... migration and differentiation in the embryonic brain, and also in the differentiation of the testis. Expansion of polyalanine tracts, missense mutation outside the homeodomain and deletions of exon 5 cause ... | Nervous system disease | ARX [HSA:170302] [KO:K09452] | |
| H02042 | Familial expansile osteolysis | Familial expansile osteolysis (FEO) is a rare autosomal dominant disorder causing bone dysplasia. It is characterized by increased osteoclast activity, medullary expansion, and hearing and dental problems ... | Musculoskeletal disease | TNFRSF11A [HSA:8792] [KO:K05147] | |
| H02213 |
Familial adult myoclonic epilepsy Benign adult familial myoclonic epilepsy |
... non-progressive course without cerebellar ataxia and dementia. It has been suggested that abnormal expansions of TTTCA and TTTTA repeats in introns of SAMD12, TNRC6A and RAPGEF2 cause this disease. Recently ... | Nervous system disease |
(FAME1) SAMD12 [HSA:401474] (FAME2) STARD7 [HSA:56910] [KO:K24141] (FAME3) MARCH6 [HSA:10299] [KO:K10661] (FAME4) YEATS2 [HSA:55689] [KO:K24539] (FAME5) CNTN2 [HSA:6900] [KO:K06760] (FAME6) TNRC6A [HSA:27327] [KO:K18412] (FAME7) RAPGEF2 [HSA:9693] [KO:K08018] |
|
| H02264 | Palmoplantar keratoderma, Nagashima type | ... recessive nonsyndromic diffuse palmoplantar keratosis characterized by diffuse hyperkeratosis with redness, expanding on to the dorsal surfaces of the palms and feet and the Achilles tendon area. Its clinical manifestations ... | Congenital malformation | SERPINB7 [HSA:8710] [KO:K13964] | |
| H02342 | Frontotemporal dementia and amyotrophic lateral sclerosis | ... sclerosis (ALS) are genetically heterogeneous disorders. Mutations in the several genes and a repeat expansion in the C9orf72 gene have been reported to be associated with both diseases (FTDALS). Genes linked ... | Nervous system disease |
(FTDALS1) C9orf72 [HSA:203228] [KO:K23609] (FTDALS2) CHCHD10 [HSA:400916] [KO:K22759] (FTDALS3) SQSTM1 [HSA:8878] [KO:K14381] (FTDALS4) TBK1 [HSA:29110] [KO:K05410] (FTDALS5) CCNF [HSA:899] [KO:K10289] (FTDALS6) VCP [HSA:7415] [KO:K13525] (FTDALS7) CHMP2B [HSA:25978] [KO:K12192] (FTDALS8) CYLD [HSA:1540] [KO:K08601] |
|
| H02366 | Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome | ... slowly progressive neurological disorder characterized by imbalance, sensory neuropathy, bilateral vestibulopathy, and chronic cough. Biallelic expansion of an intronic repeat in RFC1 is a cause of CANVAS. | Nervous system disease | RFC1 [HSA:5981] [KO:K10754] | |
| H02513 | Oculopharyngodistal myopathy | ... ophthalmoplegia, and weakness of the masseter, facial, pharyngeal, and distal limb muscles. Noncoding CGG repeat expansion in LRP12 has been identified in patients. It has also been reported that expansion of GGC repeat ... | Musculoskeletal disease |
(OPDM1) LRP12 [HSA:29967] [KO:K20050] (OPDM2) GIPC1 [HSA:10755] [KO:K20056] (OPDM3) NOTCH2NLC [HSA:100996717] [KO:K24466] (OPDM4) RILPL1 [HSA:353116] [KO:K20173] |
| [ KEGG | DISEASE | DRUG | MEDICUS ] |