OMIM → Related disease, drugs, ...
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01
604831
EVC
EVC GENE
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Disease
:
Chemicals
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Biological Phenomena
:
Anatomy
:
Organisms
Disease
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MeSH term
Japanese
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01
Ellis-Van Creveld Syndrome
Ellis-van Creveld症候群
Tooth Abnormalities
歯の奇形
Dwarfism
低身長症
Heart Defects, Congenital
心臓疾患-先天性
Dysostoses
異骨症
Cartilage Diseases
軟骨疾患
Hair Diseases
毛髪疾患
Syndrome
症候群
Achondroplasia
軟骨形成不全症
Genetic Diseases, Inborn
遺伝性疾患
Chemicals
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MeSH term
Japanese
Link
01
Proteins
蛋白質
Membrane Proteins
膜蛋白質
Biological Phenomena
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MeSH term
Japanese
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01
Leucine Zippers
ロイシンジッパー
Consanguinity
血族
Pathology
病理学
Heterozygote
ヘテロ接合体
Genetics, Medical
医科遺伝学
Genes
遺伝子
Founder Effect
創始者効果
Genetics, Population
集団遺伝学
Expressed Sequence Tags
発現配列タグ
Chromosomes, Human, Pair 4
ヒト第4染色体
Microsatellite Repeats
マイクロサテライトリピート
Genes, Recessive
劣性遺伝子
Recombination, Genetic
遺伝子組換え
Polymorphism, Single-Stranded Conformational
PCR-SSCP法
Genes, Dominant
優性遺伝子
Amino Acid Substitution
アミノ酸置換
Alternative Splicing
選択的スプライシング
Introns
イントロン
Gene Frequency
遺伝子頻度
Point Mutation
点変異
Phenotype
表現型
Mutation
変異
Amino Acid Sequence
アミノ酸配列
Base Sequence
塩基配列
Anatomy
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MeSH term
Japanese
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01
Incisor
切歯
Fingers
手指
Chromosomes, Human, Pair 4
ヒト第4染色体
Organisms
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MeSH term
Japanese
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01
Humans
ヒト
Database Center for Life Science