KEGG MEDICUS 疾患情報 |
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| エントリ | 名称 | 概要 | カテゴリ | パスウェイ | 病因遺伝子 |
|---|---|---|---|---|---|
| H00031 | 乳癌 | Breast cancer is the leading cause of cancer death among women worldwide. The vast majority of breast cancers are carcinomas that originate from cells lining the milk-forming ducts of the mammary gland ... | がん | hsa05224 Breast cancer |
BRCA1 (germline mutation, hypermethylation) [HSA:672] [KO:K10605] BRCA2 [HSA:675] [KO:K08775] BARD1 [HSA:580] [KO:K10683] BRIP1 [HSA:83990] [KO:K15362] PALB2 [HSA:79728] [KO:K10897] RAD51 [HSA:5888] [KO:K04482] RAD54L [HSA:8438] [KO:K10875] XRCC3 [HSA:7517] [KO:K10880] ERBB2/HER2 (overexpression) [HSA:2064] [KO:K05083] ESR1/ER1 [HSA:2099] [KO:K08550] PGR [HSA:5241] [KO:K08556] GATA3 [HSA:2625] [KO:K17895] PIK3CA [HSA:5290] [KO:K00922] TP53 [HSA:7157] [KO:K04451] PPM1D [HSA:8493] [KO:K10147] RB1CC1 [HSA:9821] [KO:K17589] HMMR [HSA:3161] [KO:K06267] NQO2 [HSA:4835] [KO:K08071] SLC22A18 [HSA:5002] [KO:K08214] PTEN [HSA:5728] [KO:K01110] EGFR (overexpression) [HSA:1956] [KO:K04361] KIT (overexpression) [HSA:3815] [KO:K05091] NOTCH1 (overexpression) [HSA:4851] [KO:K02599] NOTCH4 (overexpression) [HSA:4855] [KO:K20996] FZD7 (overexpression) [HSA:8324] [KO:K02432] LRP6 (overexpression) [HSA:4040] [KO:K03068] FGFR1 (amplification) [HSA:2260] [KO:K04362] CCND1 (amplification) [HSA:595] [KO:K04503] |
| H00032 | 甲状腺癌 | Thyroid cancer is the most common endocrine malignancy and accounts for the majority of endocrine cancer- related deaths each year. More than 95% of thyroid carcinomas are derived from follicular cells ... | がん | hsa05216 Thyroid cancer |
RET/CCDC6 (rearrangement) [HSA:5979 8030] [KO:K05126 K09288] RET/NCOA4 (rearrangement) [HSA:5979 8031] [KO:K05126 K09289] TPM3/NTRK1 (rearrangement) [HSA:4914 7170] [KO:K03176 K09290] TPR/NTRK1 (rearrangement) [HSA:7175 7170] [KO:K09291 K09290] TFG/NTRK1 (rearrangement) [HSA:10342 7170] [KO:K09292 K09290] PAX8/PPARG (rearrangement) [HSA:7849 5468] [KO:K09293 K08530] KRAS [HSA:3845] [KO:K07827] HRAS [HSA:3265] [KO:K02833] NRAS [HSA:4893] [KO:K07828] BRAF [HSA:673] [KO:K04365] CTNNB1 [HSA:1499] [KO:K02105] TP53 [HSA:7157] [KO:K04451] CDH1 [HSA:999] [KO:K05689] MINPP1 [HSA:9562] [KO:K03103] (NMTC1) NKX2-1 [HSA:7080] [KO:K09342] (NMTC2) SRGAP1 [HSA:57522] [KO:K07526] (NMTC4) FOXE1 [HSA:2304] [KO:K09398] (NMTC5) HABP2 [HSA:3026] [KO:K08648] |
| H00033 | 副腎癌 | Adrenocortical carcinoma (ACC) is a rare endocrine malignancy defined by a heterogeneous clinical presentation, dismal prognosis, and lack of effective therapeutic regimens. The incidence of ACC ranges ... | がん |
ACTH-R (deletion) [HSA:4158] [KO:K04200] GNAI2 (mutation) [HSA:2771] [KO:K04630] N-ras (mutation) [HSA:4893] [KO:K07828] IGF II (overexpression) [HSA:3481] [KO:K13769] p53 (LOH, mutation) [HSA:7157] [KO:K04451] p16/INK4A (LOH, low expression) [HSA:1028] [KO:K09993] MEN1 (LOH, mutation) [HSA:4221] [KO:K14970] |
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| H00034 | カルチノイド | Carcinoid tumors are relatively uncommon neoplasms that nonetheless comprise up to 85% of neuroendocrine gastrointestinal neoplasms. They most frequently occur in the midgut and develop from neuroendocrine ... | がん |
MEN1 (mutation, LOH) [HSA:4221] [KO:K14970] SDHD (germline mutation, LOH) [HSA:6392] [KO:K00237] |
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| H00035 | ユーイング肉腫 | Ewing sarcoma is the second most common malignant bone tumor occurring in children and young adults, and accounts for 10-15% of all primary bone tumors. The annual incidence is approximately 0.6/million ... | がん |
EWSR1-FLI1 (translocation) [HSA:2313] [KO:K09436] EWSR1-ERG (translocation) [HSA:2078] [KO:K09435] EWSR1-ETV1 (translocation) [HSA:2115] [KO:K09431] EWSR1-ETV4 (translocation) [HSA:2118] [KO:K15592] EWSR1-FEV (translocation) [HSA:54738] [KO:K09437] EWSR1 [HSA:2130] [KO:K13209] |
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| H00036 | 骨肉腫 | Osteosarcoma is the most common type of primary bone cancer. Approximately 900 new cases of osteosarcoma are diagnosed each year in the United States. The presentation of this disease is bimodal, with ... | がん |
MDM2 (amplification) [HSA:4193] [KO:K06643] TSPAN31 (amplification) [HSA:6302] [KO:K17356] MYC (amplification) [HSA:4609] [KO:K04377] TP53 [HSA:7157] [KO:K04451] RB1 [HSA:5925] [KO:K06618] CDKN2A [HSA:1029] [KO:K06621] CDKN2B [HSA:1030] [KO:K04685] CHEK2 [HSA:11200] [KO:K06641] |
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| H00037 | 横紋筋肉腫 | Rhabdomyosarcomas (RMSs) are soft tissue sarcomas that are one of the most common neoplasms in children and adolescents. RMSs are presumed to be associated with the skeletal muscle lineage, although those ... | がん |
PAX3-FOXO1 (translocation) [HSA:5077 2308] [KO:K09381 K07201] PAX7-FOXO1 (translocation) [HSA:5081 2308] [KO:K09381 K07201] MDM2 (amplification) [HSA:4193] [KO:K06643] SLC22A18 [HSA:5002] [KO:K08214] DICER1 [HSA:23405] [KO:K11592] |
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| H00038 | 悪性黒色腫 | Melanoma is a form of skin cancer that has a poor prognosis and which is on the rise in Western populations. Melanoma arises from the malignant transformation of pigment-producing cells, melanocytes. The ... | がん | hsa05218 Melanoma |
(CMM2) CDKN2A [HSA:1029] [KO:K06621] (CMM3) CDK4 [HSA:1019] [KO:K02089] (CMM5) MC1R [HSA:4157] [KO:K04199] (CMM6) XRCC3 [HSA:7517] [KO:K10880] (CMM8) MITF (amplification) [HSA:4286] [KO:K09455] (CMM9) TERT [HSA:7015] [KO:K11126] (CMM10) POT1 [HSA:25913] [KO:K11109] BRAF [HSA:673] [KO:K04365] STK11 [HSA:6794] [KO:K07298] NRAS [HSA:4893] [KO:K07828] PTEN [HSA:5728] [KO:K01110] TP53 [HSA:7157] [KO:K04451] |
| H00039 | 基底細胞癌 | Cancer of the skin is the most common cancer in Caucasians and basal cell carcinomas (BCC) account for 90% of all skin cancers. The vast majority of BCC cases are sporadic, though there is a rare familial ... | がん | hsa05217 Basal cell carcinoma |
(BCC1) SMO [HSA:6608] [KO:K06226] (BCC1) PTCH1 [HSA:5727] [KO:K06225] (BCC1) PTCH2 [HSA:8643] [KO:K11101] (BCC1) RASA1 [HSA:5921] [KO:K04352] (BCC7) TP53 [HSA:7157] [KO:K04451] |
| H00040 |
有棘細胞癌 扁平上皮癌 |
Non-melanoma skin cancer, i.e. basal cell carcinoma (BCC) and squamous cell carcinoma (SCC) are the most frequent tumors and their number is still increasing world- wide. Approximately 200000 cases of ... | がん |
p53 (mutation) [HSA:7157] [KO:K04451] p16/INK4A (mutation) [HSA:1029] [KO:K06621] H-ras (mutation) [HSA:3265] [KO:K02833] K-ras (mutation) [HSA:3845] [KO:K07827] |
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| H00041 | カポジ肉腫 | 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 ... | がん; ウイルス感染症 | 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 | 神経膠腫 | 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) ... | がん | 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 |
神経芽腫 神経芽細胞腫 |
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 ... | がん |
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] |
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| H00044 | 肛門管癌 | 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 ... | がん |
p53 (mutation) [HSA:7157] [KO:K04451] DCC (mutation) [HSA:1630] [KO:K06765] APC (mutation) [HSA:324] [KO:K02085] |
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| H00045 | 膵神経内分泌腫瘍 | 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 ... | がん |
MEN1 [HSA:4221] [KO:K14970] DAXX [HSA:1616] [KO:K02308] ATRX [HSA:546] [KO:K10779] |
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| H00046 | 胆管癌 | 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 ... | がん |
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] |
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| H00047 | 胆嚢癌 | 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 ... | がん |
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] |
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| H00048 |
肝細胞癌 肝癌 |
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 ... | がん | 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 | 粘液様脂肪肉腫 | 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 ... | がん |
FUS-DDIT3 (translocation) [HSA:1649] [KO:K04452] EWSR1-DDIT3 (translocation) [HSA:1649] [KO:K04452] |
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| H00050 | 滑膜肉腫 | 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 ... | がん |
SYT-SSX1 (translocation) [HSA:6756] [KO:K15624] SYT-SSX2 (translocation) [HSA:6757] [KO:K15624] IGF-IR (overexpression) [HSA:3480] [KO:K05087] |
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| H00051 | 胞巣状軟部肉腫 | 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 ... | がん | ASPSCR1-TFE3 (translocation) [HSA:79058 7030] [KO:K15627 K09105] | |
| H00052 | 明細胞肉腫 | 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 ... | がん | EWSR1-ATF1 (translocation) [HSA:466] [KO:K09053] | |
| H00053 | 粘液様軟骨肉腫 | 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 ... | がん |
EWSR1-NR4A3 (translocation) [HSA:8013] [KO:K08559] TAF15-NR4A3 (translocation) [HSA:8148] [KO:K14651] |
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| H00054 | 鼻咽頭癌 | 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 ... | がん |
(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] |
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| H00055 | 喉頭癌 | 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 ... | がん |
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] |
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| H00056 |
アルツハイマー病 アルツハイマー型認知症 |
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 ... | 神経変性疾患 | 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] (AD17) TREM2 [HSA:54209] [KO:K14378] (AD18) ADAM10 [HSA:102] [KO:K06704] |
| H00057 | パーキンソン病 | 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 ... | 神経変性疾患 | 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] (PARK19A/19B) DNAJC6 [HSA:9829] [KO:K09526] (PARK20) SYNJ1 [HSA:8867] [KO:K20279] (PARK22) CHCHD2 [HSA:51142] [KO:K22758] (PARK23) VPS13C [HSA:54832] [KO:K19525] (PARK24) PSAP [HSA:5660] [KO:K12382] (PARK25) PTPA [HSA:5524] [KO:K17605] (PARK26) RAB32 [HSA:10981] [KO:K07918] MAPT [HSA:4137] [KO:K04380] |
| H00058 | 筋萎縮性側索硬化症 (ALS) | 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 ... | 神経変性疾患 | 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 | ハンチントン病 | 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 ... | 神経変性疾患 | hsa05016 Huntington disease | (HD) HTT (CAG repeat expansion) [HSA:3064] [KO:K04533] |
| H00060 | 歯状核赤核淡蒼球ルイ体萎縮症 (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 ... | 神経変性疾患 | ATN1 (CAG repeat expansion) [HSA:1822] [KO:K05626] |