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01 604982 HPS1 HPS1 GENE - OMIM


Disease : Chemicals : Biological Phenomena : Anatomy : Organisms

Disease

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MeSH term Japanese Link 01
Albinism, Oculocutaneous 眼皮白子症 MeSH lifesciencedb.jp
Lysosomal Storage Diseases リソソーム蓄積症 MeSH lifesciencedb.jp
Platelet Storage Pool Deficiency 血小板貯留欠乏症 MeSH lifesciencedb.jp
Hermanski-Pudlak Syndrome Hermanski-Pudlak症候群 MeSH lifesciencedb.jp
Syndrome 症候群 MeSH lifesciencedb.jp
Nystagmus, Pathologic 眼振 MeSH lifesciencedb.jp
Hypopigmentation 色素沈着低下 MeSH lifesciencedb.jp
Blister 水疱 MeSH lifesciencedb.jp
Hemorrhagic Disorders 出血性疾患 MeSH lifesciencedb.jp
Inflammatory Bowel Diseases 炎症性腸疾患 MeSH lifesciencedb.jp
Hemorrhage 出血 MeSH lifesciencedb.jp
Disease Models, Animal 疾患モデル(動物) MeSH lifesciencedb.jp



Chemicals

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MeSH term Japanese Link 01
Adaptor Protein Complex 3 アダプター蛋白質複合体3 MeSH lifesciencedb.jp
Membrane Proteins 膜蛋白質 MeSH lifesciencedb.jp
Adaptor Protein Complex beta Subunits アダプター蛋白質複合体ベータサブユニット MeSH lifesciencedb.jp
RNA Precursors RNA前駆体 MeSH lifesciencedb.jp
Dolichol ドリコール MeSH lifesciencedb.jp
Thioredoxin-Disulfide Reductase チオレドキシンレダクターゼ(NADPH) MeSH lifesciencedb.jp
Lysosome-Associated Membrane Glycoproteins - MeSH lifesciencedb.jp
Membrane Transport Proteins 膜輸送蛋白質 MeSH lifesciencedb.jp
Proteins 蛋白質 MeSH lifesciencedb.jp
RNA, Small Nuclear 核内低分子RNA MeSH lifesciencedb.jp
Glycoside Hydrolases グリコシダーゼ MeSH lifesciencedb.jp
RNA Splice Sites RNAスプライス部位 MeSH lifesciencedb.jp
Glutathione Reductase グルタチオンレダクターゼ MeSH lifesciencedb.jp
Melanins メラニン MeSH lifesciencedb.jp
Zinc 亜鉛 MeSH lifesciencedb.jp
Catalase カタラーゼ MeSH lifesciencedb.jp
Antigens, Neoplasm 腫瘍抗原 MeSH lifesciencedb.jp
DNA デオキシリボ核酸 MeSH lifesciencedb.jp
Genetic Markers 遺伝子マーカー MeSH lifesciencedb.jp
Antigens, CD CD抗原 MeSH lifesciencedb.jp
RNA, Messenger メッセンジャーRNA MeSH lifesciencedb.jp
Nuclear Proteins 核内蛋白質 MeSH lifesciencedb.jp
DNA, Complementary 相補的DNA MeSH lifesciencedb.jp
Carrier Proteins 担体蛋白質 MeSH lifesciencedb.jp



Biological Phenomena

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MeSH term Japanese Link 01
Chromosomes, Human, Pair 10 ヒト第10染色体 MeSH lifesciencedb.jp
Pigmentation 色素沈着 MeSH lifesciencedb.jp
RNA Splicing RNAスプライシング MeSH lifesciencedb.jp
Pulmonary Diffusing Capacity 肺拡散能力 MeSH lifesciencedb.jp
Introns イントロン MeSH lifesciencedb.jp
Frameshift Mutation フレームシフト変異 MeSH lifesciencedb.jp
Mutation 変異 MeSH lifesciencedb.jp
Respiratory Mechanics 呼吸力学 MeSH lifesciencedb.jp
Base Sequence 塩基配列 MeSH lifesciencedb.jp
Conserved Sequence 保存配列 MeSH lifesciencedb.jp
Visual Acuity 視力 MeSH lifesciencedb.jp
Homozygote ホモ接合体 MeSH lifesciencedb.jp
RNA Splice Sites RNAスプライス部位 MeSH lifesciencedb.jp
Founder Effect 創始者効果 MeSH lifesciencedb.jp
Genetic Heterogeneity 遺伝的異質性 MeSH lifesciencedb.jp
Genetic Linkage 連鎖(遺伝学) MeSH lifesciencedb.jp
Consanguinity 血族 MeSH lifesciencedb.jp
Consensus Sequence コンセンサス配列 MeSH lifesciencedb.jp
Lod Score ロッドスコア MeSH lifesciencedb.jp
Linkage Disequilibrium 連鎖不平衡 MeSH lifesciencedb.jp
Genotype 遺伝子型 MeSH lifesciencedb.jp
Repetitive Sequences, Nucleic Acid 核酸反復配列 MeSH lifesciencedb.jp
Polymorphism, Single-Stranded Conformational PCR-SSCP法 MeSH lifesciencedb.jp
Alternative Splicing 選択的スプライシング MeSH lifesciencedb.jp
Sequence Deletion 配列欠失 MeSH lifesciencedb.jp
Haplotypes ハプロタイプ MeSH lifesciencedb.jp
Genetic Markers 遺伝子マーカー MeSH lifesciencedb.jp
Genetic Variation 遺伝的多様性 MeSH lifesciencedb.jp
Heterozygote ヘテロ接合体 MeSH lifesciencedb.jp
Amino Acid Sequence アミノ酸配列 MeSH lifesciencedb.jp
Tissue Distribution 組織内分布 MeSH lifesciencedb.jp
Exons エクソン MeSH lifesciencedb.jp
Phenotype 表現型 MeSH lifesciencedb.jp
Sequence Homology, Amino Acid アミノ酸配列相同性 MeSH lifesciencedb.jp
Transcription, Genetic 転写 MeSH lifesciencedb.jp
Gene Expression Regulation 遺伝子発現調節 MeSH lifesciencedb.jp
Transfection トランスフェクション MeSH lifesciencedb.jp



Anatomy

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MeSH term Japanese Link 01
Chromosomes, Human, Pair 10 ヒト第10染色体 MeSH lifesciencedb.jp
Melanosomes メラノソーム MeSH lifesciencedb.jp
Lysosomes リソソーム MeSH lifesciencedb.jp
Cytosol サイトゾル MeSH lifesciencedb.jp
Cytoplasmic Vesicles 細胞質小胞 MeSH lifesciencedb.jp
Ear MeSH lifesciencedb.jp
Giant Cells 巨細胞 MeSH lifesciencedb.jp
Hair MeSH lifesciencedb.jp
Melanocytes メラニン細胞 MeSH lifesciencedb.jp
Eye MeSH lifesciencedb.jp
Cytoplasmic Granules 細胞質顆粒 MeSH lifesciencedb.jp
Blood Platelets 血小板 MeSH lifesciencedb.jp
Cytoplasm 細胞質 MeSH lifesciencedb.jp
Skin 皮膚 MeSH lifesciencedb.jp
Fibroblasts 線維芽細胞 MeSH lifesciencedb.jp
Kidney 腎臓 MeSH lifesciencedb.jp
Cells, Cultured 培養細胞 MeSH lifesciencedb.jp
Cell Line 細胞系 MeSH lifesciencedb.jp



Organisms

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MeSH term Japanese Link 01
Mice, Mutant Strains 変異系マウス MeSH lifesciencedb.jp
Humans ヒト MeSH lifesciencedb.jp
Mice, Inbred C3H C3Hマウス MeSH lifesciencedb.jp
Mice, Inbred C57BL C57BLマウス MeSH lifesciencedb.jp
Saccharomyces cerevisiae 酵母-パン MeSH lifesciencedb.jp
Mice, Inbred BALB C BALB Cマウス MeSH lifesciencedb.jp
Animals 動物 MeSH lifesciencedb.jp
Mice マウス MeSH lifesciencedb.jp



Database Center for Life Science