{"id":"NHA000111","research":"hum0014","url":"https://humandbs.dbcls.jp/dataset/NHA000111","datePublished":"2019-10-08","dateModified":"2019-10-08","values":[{"key":"access-criteria","label":{"ja":"アクセス制限","en":"Access criteria"},"type":"vocabulary","terms":[{"code":"unrestricted-access","label":{"ja":"非制限公開","en":"Unrestricted-access"}}]},{"key":"type-of-data","label":{"ja":"データの種類","en":"Type of data"},"type":"text","text":{"ja":"40疾患のGWAS","en":"GWAS for 40 diseases"}}],"experiments":[{"label":"Genotyping by array (GWAS)","values":[{"key":"materials-and-participants","label":{"ja":"材料と対象者","en":"Materials and participants"},"type":"text","text":{"ja":"42疾患（ICD10 code）\n不整脈（I499）、気管支喘息（J459）、アトピー性皮膚炎（L209）、\n胆嚢・胆管がん（C23, C240）、白内障（H269）、\n脳動脈瘤（I671）、子宮頸がん（C539）、B型慢性肝炎（B181）、\nC型慢性肝炎（B182）、COPD（J449）、肝硬変（K746）、\n大腸・直腸がん（C189, C20）、心不全（I509, I500）、薬疹（L270）、\n子宮体がん（C549）、子宮内膜症（N809）、てんかん（G409）、\n食道がん（C159）、胃がん（C169）、緑内障（H409）、バセドウ病（E050）、\n造血器腫瘍（C81-96）、肝がん（C220）、肺線維症（J849, J841）、\n脳梗塞（I639）、ケロイド（L910）、肺がん（C349）、\nネフローゼ症候群（N049）、骨粗鬆症（M8199）、卵巣がん（C56）、\n膵がん（C259）、歯周病（K054）、ASO（I709）、花粉症（J301）、\n前立腺がん（C61）、肺結核（A169）、関節リウマチ（M0690）、\n糖尿病（E14）、尿路結石症（N209）、子宮筋腫（D259）、乳がん（C509）\n虚血性心疾患（I200、I209、I219）","en":"42 disease (ICD10 code)\nArrhythmia (I499), Bronchial asthma (J459), Atopic dermatitis (L209),\nGallbladder/Cholangiocarcinoma (C23, C240), Cataract (H269),\nCerebral aneurysm (I671), Cervical cancer (C539),\nChronic hepatitis B (B181), Chronic hepatitis C (B182),\nChronic obstructive pulmonary disease (J449), Liver cirrhosis (K746),\nColorectal cancer (C189, C20), Heart failure (I509, I500),\nDrug eruption (L270), Uterine cancer (C549), Endometriosis (N809),\nEpilepsy (G409), Esophageal cancer (C159), Gastric cancer (C169),\nGlaucoma (H409), Graves' disease (E050), Hematopoietic tumor (C81-96),\nLiver cancer (C220), Interstitial lung disease/Pulmonary fibrosis (J849, J841),\nCerebral infarction (I639), Keloid (L910), Lung cancer (C349),\nNephrotic syndrome (N049), Osteoporosis (M8199), Ovarian cancer (C56),\nPancreas cancer (C259), Periodontitis (K054),\nPeripheral artery disease (I709), Hay fever (J301), Prostate cancer (C61),\nPulmonary tuberculosis (A169), Rheumatoid arthritis (M0690),\nDiabetes mellitus (E14), Urolithiasis (N209), Uterine fibroids (D259), Breast cancer (C509)\nCoronary artery disease (I200, I209, I219)"}},{"key":"disease","label":{"ja":"疾患","en":"Disease"},"type":"disease","diseases":[{"terms":[{"code":"I499","label":{"ja":"不整脈，詳細不明","en":"Cardiac arrhythmia, unspecified"}}],"name":{"ja":"不整脈","en":"Arrhythmia"}},{"terms":[{"code":"J459","label":{"ja":"喘息，詳細不明","en":"Asthma, unspecified"}}],"name":{"ja":"気管支喘息","en":"Bronchial asthma"}},{"terms":[{"code":"L209","label":{"ja":"アトピー性皮膚炎，詳細不明","en":"Atopic dermatitis, unspecified"}}],"name":{"ja":"アトピー性皮膚炎","en":"Atopic dermatitis"}},{"terms":[{"code":"C23","label":{"ja":"胆のう＜嚢＞の悪性新生物＜腫瘍＞","en":"Malignant neoplasm of gallbladder"}},{"code":"C240","label":{"ja":"肝外胆管","en":"Malignant neoplasm: Extrahepatic bile duct"}}],"name":{"ja":"胆嚢・胆管がん","en":"Gallbladder/Cholangiocarcinoma"}},{"terms":[{"code":"H269","label":{"ja":"白内障，詳細不明","en":"Cataract, unspecified"}}],"name":{"ja":"白内障","en":"Cataract"}},{"terms":[{"code":"I671","label":{"ja":"脳動脈瘤，非＜未＞破裂性","en":"Cerebral aneurysm, nonruptured"}}],"name":{"ja":"脳動脈瘤","en":"Cerebral aneurysm"}},{"terms":[{"code":"C539","label":{"ja":"子宮頚（部），部位不明","en":"Malignant neoplasm: Cervix uteri, unspecified"}}],"name":{"ja":"子宮頸がん","en":"Cervical cancer"}},{"terms":[{"code":"B181","label":{"ja":"慢性B型ウイルス性肝炎，デルタ因子（重複感染）を伴わないもの","en":"Chronic viral hepatitis B without delta-agent"}}],"name":{"ja":"B型慢性肝炎","en":"Chronic hepatitis B"}},{"terms":[{"code":"B182","label":{"ja":"慢性C型ウイルス性肝炎","en":"Chronic viral hepatitis C"}}],"name":{"ja":"C型慢性肝炎","en":"Chronic hepatitis C"}},{"terms":[{"code":"J449","label":{"ja":"慢性閉塞性肺疾患，詳細不明","en":"Chronic obstructive pulmonary disease, unspecified"}}],"name":{"ja":"COPD","en":"Chronic obstructive pulmonary disease"}},{"terms":[{"code":"K746","label":{"ja":"その他及び詳細不明の肝硬変","en":"Other and unspecified cirrhosis of liver"}}],"name":{"ja":"肝硬変","en":"Liver cirrhosis"}},{"terms":[{"code":"C189","label":{"ja":"結腸，部位不明","en":"Malignant neoplasm: Colon, unspecified"}},{"code":"C20","label":{"ja":"直腸の悪性新生物＜腫瘍＞","en":"Malignant neoplasm of rectum"}}],"name":{"ja":"大腸・直腸がん","en":"Colorectal cancer"}},{"terms":[{"code":"I509","label":{"ja":"心不全，詳細不明","en":"Heart failure, unspecified"}},{"code":"I500","label":{"ja":"うっ血性心不全","en":"Congestive heart failure"}}],"name":{"ja":"心不全","en":"Heart failure"}},{"terms":[{"code":"L270","label":{"ja":"薬物及び薬剤による全身の発疹","en":"Generalized skin eruption due to drugs and medicaments"}}],"name":{"ja":"薬疹","en":"Drug eruption"}},{"terms":[{"code":"C549","label":{"ja":"子宮体部，部位不明","en":"Malignant neoplasm: Corpus uteri, unspecified"}}],"name":{"ja":"子宮体がん","en":"Uterine cancer"}},{"terms":[{"code":"N809","label":{"ja":"子宮内膜症，詳細不明","en":"Endometriosis, unspecified"}}],"name":{"ja":"子宮内膜症","en":"Endometriosis"}},{"terms":[{"code":"G409","label":{"ja":"てんかん，詳細不明","en":"Epilepsy, unspecified"}}],"name":{"ja":"てんかん","en":"Epilepsy"}},{"terms":[{"code":"C159","label":{"ja":"食道，部位不明","en":"Malignant neoplasm: Oesophagus, unspecified"}}],"name":{"ja":"食道がん","en":"Esophageal cancer"}},{"terms":[{"code":"C169","label":{"ja":"胃，部位不明","en":"Malignant neoplasm: Stomach, unspecified"}}],"name":{"ja":"胃がん","en":"Gastric cancer"}},{"terms":[{"code":"H409","label":{"ja":"緑内障，詳細不明","en":"Glaucoma, unspecified"}}],"name":{"ja":"緑内障","en":"Glaucoma"}},{"terms":[{"code":"E050","label":{"ja":"びまん性甲状腺腫を伴う甲状腺中毒症","en":"Thyrotoxicosis with diffuse goitre"}}],"name":{"ja":"バセドウ病","en":"Graves' disease"}},{"terms":[{"code":"C220","label":{"ja":"肝細胞癌","en":"Malignant neoplasm: Liver cell carcinoma"}}],"name":{"ja":"肝がん","en":"Liver cancer"}},{"terms":[{"code":"J849","label":{"ja":"間質性肺疾患，詳細不明","en":"Interstitial pulmonary disease, unspecified"}},{"code":"J841","label":{"ja":"肺線維症を伴うその他の間質性肺疾患","en":"Other interstitial pulmonary diseases with fibrosis"}}],"name":{"ja":"肺線維症","en":"Interstitial lung disease/Pulmonary fibrosis"}},{"terms":[{"code":"I639","label":{"ja":"脳梗塞，詳細不明","en":"Cerebral infarction, unspecified"}}],"name":{"ja":"脳梗塞","en":"Cerebral infarction"}},{"terms":[{"code":"L910","label":{"ja":"肥厚性瘢痕","en":"Hypertrophic scar"}}],"name":{"ja":"ケロイド","en":"Keloid"}},{"terms":[{"code":"C349","label":{"ja":"気管支又は肺，部位不明","en":"Malignant neoplasm: Bronchus or lung, unspecified"}}],"name":{"ja":"肺がん","en":"Lung cancer"}},{"terms":[{"code":"N049","label":{"ja":"ネフローゼ症候群，詳細不明","en":"Nephrotic syndrome: Unspecified"}}],"name":{"ja":"ネフローゼ症候群","en":"Nephrotic syndrome"}},{"terms":[{"code":"M819","label":{"ja":"骨粗しょう＜鬆＞症＜オステオポローシス＞，詳細不明","en":"Osteoporosis, unspecified"}}],"name":{"ja":"骨粗鬆症","en":"Osteoporosis"}},{"terms":[{"code":"C56","label":{"ja":"卵巣の悪性新生物＜腫瘍＞","en":"Malignant neoplasm of ovary"}}],"name":{"ja":"卵巣がん","en":"Ovarian cancer"}},{"terms":[{"code":"C259","label":{"ja":"膵，部位不明","en":"Malignant neoplasm: Pancreas, unspecified"}}],"name":{"ja":"膵がん","en":"Pancreas cancer"}},{"terms":[{"code":"K054","label":{"ja":"歯周症","en":"Periodontosis"}}],"name":{"ja":"歯周病","en":"Periodontitis"}},{"terms":[{"code":"I709","label":{"ja":"全身性及び詳細不明のアテローム＜じゅく＜粥＞状＞硬化（症）","en":"Generalized and unspecified atherosclerosis"}}],"name":{"ja":"ASO","en":"Peripheral artery disease"}},{"terms":[{"code":"J301","label":{"ja":"花粉によるアレルギー性鼻炎＜鼻アレルギー＞","en":"Allergic rhinitis due to pollen"}}],"name":{"ja":"花粉症","en":"Hay fever"}},{"terms":[{"code":"C61","label":{"ja":"前立腺の悪性新生物＜腫瘍＞","en":"Malignant neoplasm of prostate"}}],"name":{"ja":"前立腺がん","en":"Prostate cancer"}},{"terms":[{"code":"A169","label":{"ja":"詳細不明の呼吸器結核，細菌学的又は組織学的確認の記載がないもの","en":"Respiratory tuberculosis unspecified, without mention of bacteriological or histological confirmation"}}],"name":{"ja":"肺結核","en":"Pulmonary tuberculosis"}},{"terms":[{"code":"M069","label":{"ja":"関節リウマチ，詳細不明","en":"Rheumatoid arthritis, unspecified"}}],"name":{"ja":"関節リウマチ","en":"Rheumatoid arthritis"}},{"terms":[{"code":"E14","label":{"ja":"詳細不明の糖尿病","en":"Unspecified diabetes mellitus"}}],"name":{"ja":"糖尿病","en":"Diabetes mellitus"}},{"terms":[{"code":"N209","label":{"ja":"尿路結石，詳細不明","en":"Urinary calculus, unspecified"}}],"name":{"ja":"尿路結石症","en":"Urolithiasis"}},{"terms":[{"code":"D259","label":{"ja":"子宮平滑筋腫，部位不明","en":"Leiomyoma of uterus, unspecified"}}],"name":{"ja":"子宮筋腫","en":"Uterine fibroids"}},{"terms":[{"code":"C509","label":{"ja":"乳房，部位不明","en":"Malignant neoplasm: Breast, unspecified"}}],"name":{"ja":"乳がん","en":"Breast cancer"}},{"terms":[{"code":"I200","label":{"ja":"不安定狭心症","en":"Unstable angina"}},{"code":"I209","label":{"ja":"狭心症，詳細不明","en":"Angina pectoris, unspecified"}},{"code":"I219","label":{"ja":"急性心筋梗塞，詳細不明","en":"Acute myocardial infarction, unspecified"}}],"name":{"ja":"虚血性心疾患","en":"Coronary artery disease"}}]},{"key":"health-status","label":{"ja":"健康状態","en":"Health status"},"type":"vocabulary","terms":[{"code":"affected","label":{"ja":"罹患","en":"Affected"}}]},{"key":"sample-description","label":{"ja":"試料説明","en":"Sample description"},"type":"text","text":{"ja":"末梢血から抽出したgDNA","en":"gDNA extracted from peripheral blood cells"}},{"key":"tissue","label":{"ja":"組織","en":"Tissue"},"type":"vocabulary","terms":[{"code":"peripheral-blood","label":{"ja":"末梢血","en":"Peripheral blood"}}]},{"key":"is-tumor","label":{"ja":"腫瘍 / 非腫瘍","en":"Tumor / normal"},"type":"vocabulary","terms":[{"code":"mixed","label":{"ja":"混在","en":"Mixed"}}]},{"key":"sample-provider","label":{"ja":"試料の入手元","en":"Sample provider"},"type":"text","text":{"ja":null,"en":null}},{"key":"experimental-method","label":{"ja":"実験方法","en":"Experimental method"},"type":"vocabulary","terms":[{"code":"genotyping-by-array","label":{"en":"Genotyping by array"}}]},{"key":"targets","label":{"ja":"測定対象","en":"Target"},"type":"text","text":{"ja":null,"en":null}},{"key":"reagents","label":{"ja":"試薬キット","en":"Reagent kit"},"type":"vocabulary","terms":[{"code":"humanomniexpress-beadchip-kit","label":{"en":"HumanOmniExpress BeadChip Kit"}},{"code":"humanexome-beadchip-kit","label":{"en":"HumanExome BeadChip Kit"}},{"code":"humanomniexpressexome-beadchip-kit","label":{"en":"HumanOmniExpressExome BeadChip Kit"}}]},{"key":"platform","label":{"ja":"プラットフォーム","en":"Platform"},"type":"vocabulary","terms":[{"code":"illumina-humanomniexpress","label":{"en":"Illumina HumanOmniExpress"}},{"code":"illumina-humanexome","label":{"en":"Illumina HumanExome"}},{"code":"illumina-humanomniexpressexome","label":{"en":"Illumina HumanOmniExpressExome"}}]},{"key":"reference-sequence","label":{"ja":"参照ゲノム","en":"Reference genome"},"type":"vocabulary","terms":[{"code":"grch37","label":{"en":"GRCh37"}}]},{"key":"filtering","label":{"ja":"QC・フィルタリング","en":"QC and filtering"},"type":"text","text":{"ja":"Imputation後のQC:\nImputation quality (Rsq) < 0.7 を除外","en":"QC after imputation:\nExclusion criteria: Variants with imputation quality of Rsq < 0.7"}},{"key":"imputation","label":{"ja":"インピュテーション","en":"Imputation"},"type":"text","text":{"ja":"minimac3 [imputation(1000 genomes Phase 3 v5 )]","en":"Minimac3 [imputation (1000 genomes Phase 3 v5)]"}},{"key":"analysis-methods","label":{"ja":"解析方法","en":"Analysis method"},"type":"text","text":{"ja":"GenCall software（GenomeStudio）","en":"GenCall software (GenomeStudio)"}},{"key":"variant-number","label":{"ja":"バリアント数","en":"Variant count"},"type":"number","numbers":[{"value":8712794,"unit":null,"high":null,"prefix":{"ja":"常染色体: ","en":"Autosomes: "},"suffix":{"ja":" variants","en":" variants"}},{"value":207198,"unit":null,"high":null,"prefix":{"ja":"X染色体: ","en":"X chromosome: "},"suffix":{"ja":" variants","en":" variants"}}]},{"key":"processed-data-type","label":{"ja":"加工データの種類","en":"Processed data type"},"type":"vocabulary","terms":[{"code":"imputed-genotype-data","label":{"ja":"インピュテーション済み遺伝子型データ","en":"Imputed genotype data"}}]},{"key":"has-phenotype-data","label":{"ja":"表現型データの有無","en":"Phenotype data"},"type":"vocabulary","terms":[{"code":"included","label":{"ja":"あり","en":"Included"}}]},{"key":"policies","label":{"ja":"利用ポリシー","en":"Data use policy"},"type":"vocabulary","terms":[{"code":"nbdc-data-sharing-policy-jgap000001","label":{"ja":"NBDC データ共有ポリシー (JGAP000001)","en":"NBDC data sharing policy (JGAP000001)"}}]}]}],"fileFormats":[{"code":"txt","label":{"en":"TXT"}},{"code":"xlsx","label":{"en":"XLSX"}},{"code":"zip","label":{"en":"ZIP"}}]}