{"id":251,"date":"2024-06-14T00:04:47","date_gmt":"2024-06-14T00:04:47","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/gene\/gene-checker\/?post_type=lp&p=251"},"modified":"2025-09-04T04:57:19","modified_gmt":"2025-09-04T04:57:19","slug":"asd","status":"publish","type":"lp","link":"https:\/\/www.hiro-clinic.or.jp\/gene\/gene-checker\/lp\/asd\/","title":{"rendered":"\u81ea\u9589\u75c7\u306e\u907a\u4f1d\u5b50\u691c\u67fb"},"content":{"rendered":"\n\n\n\n\n
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\"\u907a\u4f1d\u5b50\u691c\u67fb\u2503\u30b8\u30a7\u30fc\u30f3\u30c1\u30a7\u30c3\u30ab\u30fc(gene-checker)\u3010\u52a3\u52e2\u907a\u4f1d\u5b50\u691c\u67fb\u3011\u30ab\u30c3\u30d7\u30eb\u3084\u65b0\u751f\u5150\u306b\u304a\u3059\u3059\u3081\"<\/h1>\n <\/div>\n<\/section>\n\n\n\n\n
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\u4eca\u3059\u3050\u8cfc\u5165<\/p>\n

\n Generio Store\u304b\u3089\u8cfc\u5165<\/a>\n <\/div>\n <\/div>\n<\/div>\n\n\n\n\n\n
\n

\n \"Gene-Checker\"\u306e\u81ea\u9589\u75c7\u30b9\u30da\u30af\u30c8\u30e9\u30e0\u969c\u5bb3\uff08ASD\uff09
\u907a\u4f1d\u5b50\u691c\u67fb\u3067\u308f\u304b\u308b\u3053\u3068\n <\/h2>\n
\n\n

Gene-Checker\u306e\u81ea\u9589\u75c7\u30b9\u30da\u30af\u30c8\u30e9\u30e0\u969c\u5bb3\uff08ASD\uff09\u907a\u4f1d\u5b50\u691c\u67fb\u30ad\u30c3\u30c8\u306f\u3001\u81ea\u5b85\u3067\u7c21\u5358\u306b\u884c\u3048\u308b\u907a\u4f1d\u5b50\u691c\u67fb\u3067\u3059\u3002\u3053\u306e\u30ad\u30c3\u30c8\u3092\u4f7f\u7528\u3059\u308b\u3053\u3068\u3067\u3001\u81ea\u9589\u75c7\u30b9\u30da\u30af\u30c8\u30e9\u30e0\u969c\u5bb3\u306e\u907a\u4f1d\u7684\u30ea\u30b9\u30af\u3092\u7cbe\u5bc6\u306b\u5206\u6790\u3057\u3001\u30ea\u30b9\u30af\u7ba1\u7406\u306b\u5f79\u7acb\u3066\u308b\u3053\u3068\u304c\u3067\u304d\u307e\u3059\u3002\u7279\u5b9a\u306e\u907a\u4f1d\u5b50\u5909\u7570\u3092\u8abf\u3079\u308b\u3053\u3068\u306b\u3088\u308a\u3001\u81ea\u9589\u75c7\u30b9\u30da\u30af\u30c8\u30e9\u30e0\u969c\u5bb3\u306e\u50be\u5411\u3092\u65e9\u671f\u306b\u628a\u63e1\u3057\u3001\u9069\u5207\u306a\u30b5\u30dd\u30fc\u30c8\u8a08\u753b\u3092\u7acb\u3066\u308b\u305f\u3081\u306e\u7b2c\u4e00\u6b69\u3068\u306a\u308a\u307e\u3059\u3002<\/p>\n

\u907a\u4f1d\u5b50\u691c\u67fb\u306e\u91cd\u8981\u30dd\u30a4\u30f3\u30c8<\/h3>\n
    \n
  • \n \"\u5206\u6790\"\n

    \u907a\u4f1d\u5b50\u5909\u7570\u306e\u7279\u5b9a<\/h4>\n

    \u9ad8\u5ea6\u306a\u6280\u8853\u3092\u7528\u3044\u3066\u81ea\u9589\u75c7\u30b9\u30da\u30af\u30c8\u30e9\u30e0\u969c\u5bb3\u306b\u95a2\u9023\u3059\u308b\u907a\u4f1d\u5b50\u3092\u8a73\u7d30\u306b\u5206\u6790\u3057\u3001\u81ea\u9589\u75c7\u30b9\u30da\u30af\u30c8\u30e9\u30e0\u969c\u5bb3\u306e\u30ea\u30b9\u30af\u3092\u660e\u3089\u304b\u306b\u3057\u307e\u3059\u3002<\/p>\n <\/li>\n

  • \n \"\u7ba1\u7406\"\n

    \u30ea\u30b9\u30af\u7ba1\u7406\u3068\u30b5\u30dd\u30fc\u30c8\u306e\u63d0\u4f9b<\/h4>\n

    \u691c\u67fb\u7d50\u679c\u306f\u81ea\u9589\u75c7\u30b9\u30da\u30af\u30c8\u30e9\u30e0\u969c\u5bb3\u306e\u65e9\u671f\u767a\u898b\u3084\u5bfe\u7b56\u3001\u5bb6\u65cf\u3078\u306e\u60c5\u5831\u5171\u6709\u306b\u5927\u304d\u304f\u5bc4\u4e0e\u3057\u307e\u3059\u3002<\/p>\n <\/li>\n <\/ul>\n

    \u81ea\u9589\u75c7\u30b9\u30da\u30af\u30c8\u30e9\u30e0\u969c\u5bb3\uff08ASD\uff09
    \u691c\u67fb\u30ad\u30c3\u30c8\u3067\u691c\u67fb\u53ef\u80fd\u306a
    \u907a\u4f1d\u5b50\u306e\u7a2e\u985e\/\u30d1\u30cd\u30eb<\/h3>\n
    \n
    \n

    \u691c\u67fb\u53ef\u80fd\u306a\u907a\u4f1d\u5b50\u3092\u307f\u308b<\/p>\n

    add<\/p>\n <\/div>\n\n

    \n\n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n
    Gene<\/th>\n Associated phenotypes<\/th>\n \u95a2\u9023\u3059\u308b\u8868\u73fe\u578b<\/th>\n Inheritance<\/th>\n <\/tr>\n
    ADNP<\/td>\n Helsmoortel-van der Aa syndrome (Mental retardation, autosomal dominant 28)<\/td>\n \u30d8\u30eb\u30b9\u30e2\u30fc\u30eb\u30c6\u30eb\u30fb\u30d5\u30a1\u30f3\u30fb\u30c7\u30eb\u30fb\u30a2\u30fc\u75c7\u5019\u7fa4\uff08\u7cbe\u795e\u9045\u6ede\u3001\u5e38\u67d3\u8272\u4f53\u512a\u602728\u578b\uff09<\/td>\n AD<\/td>\n <\/tr>\n
    BCL11A<\/td>\n Dias-Logan syndrome<\/td>\n \u30c7\u30a3\u30a2\u30b9\u30fb\u30ed\u30fc\u30ac\u30f3\u75c7\u5019\u7fa4<\/td>\n AD<\/td>\n <\/tr>\n
    C12ORF4<\/td>\n Developmental delay and seizures with or without movement abnormalities (DEDSM)<\/td>\n \u767a\u9054\u9045\u5ef6\u304a\u3088\u3073\u904b\u52d5\u7570\u5e38\u3092\u4f34\u3046\u307e\u305f\u306f\u4f34\u308f\u306a\u3044\u767a\u4f5c (DEDSM)<\/td>\n AR<\/td>\n <\/tr>\n
    CACNA1C<\/td>\n Brugada syndrome, Timothy syndrome, Neurodevelopmental disorder<\/td>\n \u30d6\u30eb\u30ac\u30c0\u75c7\u5019\u7fa4\u3001\u30c6\u30a3\u30e2\u30b7\u30fc\u75c7\u5019\u7fa4\u3001\u795e\u7d4c\u767a\u9054\u969c\u5bb3<\/td>\n AD<\/td>\n <\/tr>\n
    CC2D1A<\/td>\n Mental retardation, autosomal recessive 3<\/td>\n \u7cbe\u795e\u9045\u6ede\u3001\u5e38\u67d3\u8272\u4f53\u52a3\u6027\u907a\u4f1d 3<\/td>\n AR<\/td>\n <\/tr>\n
    CNOT3<\/td>\n Intellectual developmental disorder<\/td>\n \u77e5\u7684\u767a\u9054\u969c\u5bb3<\/td>\n AD<\/td>\n <\/tr>\n
    CNTN6<\/td>\n Developmental delay and seizures with or without movement abnormalities (DEDSM)<\/td>\n \u767a\u9054\u9045\u5ef6\u304a\u3088\u3073\u904b\u52d5\u7570\u5e38\u3092\u4f34\u3046\u307e\u305f\u306f\u4f34\u308f\u306a\u3044\u767a\u4f5c (DEDSM)<\/td>\n AD<\/td>\n <\/tr>\n
    COL4A3BP<\/td>\n Mental retardation, autosomal dominant 34<\/td>\n \u7cbe\u795e\u9045\u6ede\u3001\u5e38\u67d3\u8272\u4f53\u512a\u6027\u907a\u4f1d 34<\/td>\n AD<\/td>\n <\/tr>\n
    CSNK2A1<\/td>\n <\/td>\n <\/td>\n AD<\/td>\n <\/tr>\n
    CTNND2<\/td>\n Developmental delay and seizures with or without movement abnormalities (DEDSM)<\/td>\n \u767a\u9054\u9045\u5ef6\u304a\u3088\u3073\u904b\u52d5\u7570\u5e38\u3092\u4f34\u3046\u307e\u305f\u306f\u4f34\u308f\u306a\u3044\u767a\u4f5c (DEDSM)<\/td>\n AD<\/td>\n <\/tr>\n
    DHCR7<\/td>\n Smith-Lemli-Opitz syndrome<\/td>\n \u30b9\u30df\u30b9\u30fb\u30ec\u30e0\u30ea\u30fb\u30aa\u30d4\u30c3\u30c4\u75c7\u5019\u7fa4<\/td>\n AR<\/td>\n <\/tr>\n
    EHMT1<\/td>\n Kleefstra syndrome<\/td>\n \u30af\u30ea\u30fc\u30d5\u30b9\u30c8\u30e9\u75c7\u5019\u7fa4<\/td>\n AD<\/td>\n <\/tr>\n
    EN2<\/td>\n Autism<\/td>\n \u81ea\u9589\u75c7<\/td>\n AD<\/td>\n <\/tr>\n
    FBXO11<\/td>\n Intellectual developmental disorder<\/td>\n \u77e5\u7684\u767a\u9054\u969c\u5bb3<\/td>\n AD<\/td>\n <\/tr>\n
    FOXP1<\/td>\n Mental retardation with language impairment and autistic features, Congenital heart malformations<\/td>\n \u8a00\u8a9e\u969c\u5bb3\u304a\u3088\u3073\u81ea\u9589\u75c7\u7684\u7279\u5fb4\u3092\u4f34\u3046\u7cbe\u795e\u9045\u6ede\u3001\u5148\u5929\u6027\u5fc3\u81d3\u5947\u5f62<\/td>\n AD<\/td>\n <\/tr>\n
    GAMT<\/td>\n Guanidinoacetate methyltransferase deficiency<\/td>\n \u30b0\u30a2\u30cb\u30b8\u30ce\u9162\u9178\u30e1\u30c1\u30eb\u30c8\u30e9\u30f3\u30b9\u30d5\u30a7\u30e9\u30fc\u30bc\u6b20\u640d\u75c7<\/td>\n AR<\/td>\n <\/tr>\n
    FOXP1<\/td>\n Mental retardation with language impairment and autistic features, Congenital heart malformations<\/td>\n \u8a00\u8a9e\u969c\u5bb3\u304a\u3088\u3073\u81ea\u9589\u75c7\u7684\u7279\u5fb4\u3092\u4f34\u3046\u7cbe\u795e\u9045\u6ede\u3001\u5148\u5929\u6027\u5fc3\u81d3\u5947\u5f62<\/td>\n AD<\/td>\n <\/tr>\n
    GAMT<\/td>\n Guanidinoacetate methyltransferase deficiency<\/td>\n \u30b0\u30a2\u30cb\u30b8\u30ce\u9162\u9178\u30e1\u30c1\u30eb\u30c8\u30e9\u30f3\u30b9\u30d5\u30a7\u30e9\u30fc\u30bc\u6b20\u640d\u75c7<\/td>\n AR<\/td>\n <\/tr>\n
    KMT2E<\/td>\n Neurodevelopmental disorder<\/td>\n \u795e\u7d4c\u767a\u9054\u969c\u5bb3<\/td>\n AD<\/td>\n <\/tr>\n
    KMT5B<\/td>\n Developmental delay and seizures with or without movement abnormalities (DEDSM), Autism spectrum disorder, overgrowth syndrome with intellectual disability<\/td>\n \u767a\u9054\u9045\u5ef6\u304a\u3088\u3073\u904b\u52d5\u7570\u5e38\u3092\u4f34\u3046\u307e\u305f\u306f\u4f34\u308f\u306a\u3044\u767a\u4f5c\uff08DEDSM\uff09\u3001\u81ea\u9589\u75c7\u30b9\u30da\u30af\u30c8\u30e9\u30e0\u969c\u5bb3\u3001\u77e5\u7684\u969c\u5bb3\u3092\u4f34\u3046\u904e\u6210\u9577\u75c7\u5019\u7fa4<\/td>\n AD<\/td>\n <\/tr>\n
    MBOAT7<\/td>\n Mental retardation, autosomal recessive 57<\/td>\n \u7cbe\u795e\u9045\u6ede\u3001\u5e38\u67d3\u8272\u4f53\u52a3\u6027\u907a\u4f1d 57<\/td>\n AR<\/td>\n <\/tr>\n
    MECP2<\/td>\n Angelman-like syndrome, Autism, Rett syndrome, Encephalopathy, Intellectual developmental disorder<\/td>\n \u30a2\u30f3\u30b8\u30a7\u30eb\u30de\u30f3\u69d8\u75c7\u5019\u7fa4\u3001\u81ea\u9589\u75c7\u3001\u30ec\u30c3\u30c8\u75c7\u5019\u7fa4\u3001\u8133\u75c7\u3001\u77e5\u7684\u767a\u9054\u969c\u5bb3<\/td>\n XL<\/td>\n <\/tr>\n
    MT-ATP6<\/td>\n Neuropathy, ataxia, and retinitis pigmentosa, Leber hereditary optic neuropathy, Ataxia and polyneuropathy, adult-onset, Cardiomyopathy, infantile hypertrophic, Leigh syndrome, Striatonigral degeneration, infantile, mitochondrial<\/td>\n \u795e\u7d4c\u969c\u5bb3\u3001\u904b\u52d5\u5931\u8abf\u3001\u304a\u3088\u3073\u7db2\u819c\u8272\u7d20\u5909\u6027\u75c7\u3001\u30ec\u30fc\u30d9\u30eb\u907a\u4f1d\u6027\u8996\u795e\u7d4c\u75c7\u3001\u904b\u52d5\u5931\u8abf\u304a\u3088\u3073\u591a\u767a\u6027\u795e\u7d4c\u969c\u5bb3\u3001\u6210\u4eba\u767a\u75c7\u3001\u5fc3\u7b4b\u75c7\u3001\u4e73\u5150\u80a5\u5927\u75c7\u3001\u30ea\u30fc\u75c7\u5019\u7fa4\u3001\u7dda\u6761\u4f53\u9ed2\u8cea\u5909\u6027\u75c7\u3001\u4e73\u5150\u3001\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2<\/td>\n Mitochondrial<\/td>\n <\/tr>\n
    MT-ATP8<\/td>\n Cardiomyopathy, apical hypertrophic, and neuropathy, Cardiomyopathy, infantile hypertrophic<\/td>\n \u5fc3\u7b4b\u75c7\u3001\u5fc3\u5c16\u90e8\u80a5\u5927\u578b\u3001\u795e\u7d4c\u969c\u5bb3\u3001\u5fc3\u7b4b\u75c7\u3001\u4e73\u5150\u80a5\u5927\u578b<\/td>\n Mitochondrial<\/td>\n <\/tr>\n
    MT-CO1<\/td>\n Myoglobinuria, recurrent, Leber hereditary optic neuropathy, Sideroblastic anemia, Cytochrome C oxidase deficiency, Deafness, mitochondrial<\/td>\n \u30df\u30aa\u30b0\u30ed\u30d3\u30f3\u5c3f\u75c7\u3001\u518d\u767a\u6027\u3001\u30ec\u30fc\u30d9\u30eb\u907a\u4f1d\u6027\u8996\u795e\u7d4c\u75c7\u3001\u9244\u82bd\u7403\u6027\u8ca7\u8840\u3001\u30c1\u30c8\u30af\u30ed\u30e0C\u30aa\u30ad\u30b7\u30c0\u30fc\u30bc\u6b20\u640d\u75c7\u3001\u96e3\u8074\u3001\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2<\/td>\n Mitochondrial<\/td>\n <\/tr>\n
    MT-CO2<\/td>\n Cytochrome c oxidase deficiency<\/td>\n \u30c1\u30c8\u30af\u30ed\u30e0c\u30aa\u30ad\u30b7\u30c0\u30fc\u30bc\u6b20\u640d\u75c7<\/td>\n Mitochondrial<\/td>\n <\/tr>\n
    MT-CO3<\/td>\n Cytochrome c oxidase deficiency, Leber hereditary optic neuropathy<\/td>\n \u30c1\u30c8\u30af\u30ed\u30e0c\u30aa\u30ad\u30b7\u30c0\u30fc\u30bc\u6b20\u640d\u75c7\u3001\u30ec\u30fc\u30d9\u30eb\u907a\u4f1d\u6027\u8996\u795e\u7d4c\u75c7<\/td>\n Mitochondrial<\/td>\n <\/tr>\n
    MT-CYB<\/td>\n <\/td>\n <\/td>\n Mitochondrial<\/td>\n <\/tr>\n
    MT-ND1<\/td>\n Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes, Leber hereditary optic neuropathy, Leber optic atrophy and dystonia<\/td>\n \u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2\u7b4b\u75c7\u3001\u8133\u75c7\u3001\u4e73\u9178\u30a2\u30b7\u30c9\u30fc\u30b7\u30b9\u3001\u8133\u5352\u4e2d\u69d8\u30a8\u30d4\u30bd\u30fc\u30c9\u3001\u30ec\u30fc\u30d9\u30eb\u907a\u4f1d\u6027\u8996\u795e\u7d4c\u75c7\u3001\u30ec\u30fc\u30d9\u30eb\u8996\u795e\u7d4c\u840e\u7e2e\u3001\u30b8\u30b9\u30c8\u30cb\u30a2<\/td>\n Mitochondrial<\/td>\n <\/tr>\n
    MT-ND2<\/td>\n Leber hereditary optic neuropathy, Mitochondrial complex I deficiency<\/td>\n \u30ec\u30d0\u30fc\u907a\u4f1d\u6027\u8996\u795e\u7d4c\u75c7\u3001\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2\u8907\u5408\u4f53I\u6b20\u640d\u75c7<\/td>\n Mitochondrial<\/td>\n <\/tr>\n
    MT-ND3<\/td>\n Leber optic atrophy and dystonia, Mitochondrial complex I deficiency<\/td>\n \u30ec\u30fc\u30d9\u30eb\u8996\u795e\u7d4c\u840e\u7e2e\u304a\u3088\u3073\u30b8\u30b9\u30c8\u30cb\u30a2\u3001\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2\u8907\u5408\u4f53I\u6b20\u640d\u75c7<\/td>\n Mitochondrial<\/td>\n <\/tr>\n
    MT-ND4<\/td>\n Leber hereditary optic neuropathy, Leber optic atrophy and dystonia, Mitochondrial complex I deficiency<\/td>\n \u30ec\u30fc\u30d9\u30eb\u907a\u4f1d\u6027\u8996\u795e\u7d4c\u75c7\u3001\u30ec\u30fc\u30d9\u30eb\u8996\u795e\u7d4c\u840e\u7e2e\u304a\u3088\u3073\u30b8\u30b9\u30c8\u30cb\u30a2\u3001\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2\u8907\u5408\u4f53I\u6b20\u640d\u75c7<\/td>\n Mitochondrial<\/td>\n <\/tr>\n
    MT-ND4L<\/td>\n Leber hereditary optic neuropathy<\/td>\n \u30ec\u30d0\u30fc\u907a\u4f1d\u6027\u8996\u795e\u7d4c\u75c7<\/td>\n Mitochondrial<\/td>\n <\/tr>\n
    MT-ND5<\/td>\n Myoclonic epilepsy with ragged red fibers, Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes, Leber hereditary optic neuropathy, Mitochondrial complex I deficiency<\/td>\n \u4e0d\u898f\u5247\u306a\u8d64\u8272\u7dda\u7dad\u3092\u4f34\u3046\u30df\u30aa\u30af\u30ed\u30cb\u30fc\u3066\u3093\u304b\u3093\u3001\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2\u30df\u30aa\u30d1\u30c1\u30fc\u3001\u8133\u75c7\u3001\u4e73\u9178\u30a2\u30b7\u30c9\u30fc\u30b7\u30b9\u3001\u8133\u5352\u4e2d\u69d8\u30a8\u30d4\u30bd\u30fc\u30c9\u3001\u30ec\u30fc\u30d9\u30eb\u907a\u4f1d\u6027\u8996\u795e\u7d4c\u75c7\u3001\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2\u8907\u5408\u4f53I\u6b20\u640d\u75c7<\/td>\n Mitochondrial<\/td>\n <\/tr>\n
    MT-ND6<\/td>\n Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes, Oncocytoma, Leber hereditary optic neuropathy, Leber optic atrophy and dystonia, Mitochondrial complex I deficiency<\/td>\n \u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2\u7b4b\u75c7\u3001\u8133\u75c7\u3001\u4e73\u9178\u30a2\u30b7\u30c9\u30fc\u30b7\u30b9\u3001\u304a\u3088\u3073\u8133\u5352\u4e2d\u69d8\u30a8\u30d4\u30bd\u30fc\u30c9\u3001\u30aa\u30f3\u30b3\u30b5\u30a4\u30c8\u30fc\u30de\u3001\u30ec\u30fc\u30d9\u30eb\u907a\u4f1d\u6027\u8996\u795e\u7d4c\u75c7\u3001\u30ec\u30fc\u30d9\u30eb\u8996\u795e\u7d4c\u840e\u7e2e\u304a\u3088\u3073\u30b8\u30b9\u30c8\u30cb\u30a2\u3001\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2\u8907\u5408\u4f53I\u6b20\u640d\u75c7<\/td>\n Mitochondrial<\/td>\n <\/tr>\n
    MT-RNR1<\/td>\n Deafness, mitochondrial<\/td>\n \u96e3\u8074\u3001\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2<\/td>\n Mitochondrial<\/td>\n <\/tr>\n
    MT-RNR2<\/td>\n Chloramphenicol toxicity\/resistance<\/td>\n \u30af\u30ed\u30e9\u30e0\u30d5\u30a7\u30cb\u30b3\u30fc\u30eb\u306e\u6bd2\u6027\/\u8010\u6027<\/td>\n Mitochondrial<\/td>\n <\/tr>\n
    MT-TA<\/td>\n <\/td>\n <\/td>\n Mitochondrial<\/td>\n <\/tr>\n
    MT-TC<\/td>\n Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes<\/td>\n \u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2\u30df\u30aa\u30d1\u30c1\u30fc\u3001\u8133\u75c7\u3001\u4e73\u9178\u30a2\u30b7\u30c9\u30fc\u30b7\u30b9\u3001\u8133\u5352\u4e2d\u69d8\u30a8\u30d4\u30bd\u30fc\u30c9<\/td>\n Mitochondrial<\/td>\n <\/tr>\n
    MT-TD<\/td>\n <\/td>\n <\/td>\n Mitochondrial<\/td>\n <\/tr>\n
    MT-TE<\/td>\n Diabetes-deafness syndrome, Mitochondrial myopathy, infantile, transient, Mitochondrial myopathy with diabetes<\/td>\n \u7cd6\u5c3f\u75c5\u6027\u96e3\u8074\u75c7\u5019\u7fa4\u3001\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2\u30df\u30aa\u30d1\u30c1\u30fc\u3001\u4e73\u5150\u3001\u4e00\u904e\u6027\u3001\u7cd6\u5c3f\u75c5\u3092\u4f34\u3046\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2\u30df\u30aa\u30d1\u30c1\u30fc<\/td>\n Mitochondrial<\/td>\n <\/tr>\n
    MT-TF<\/td>\n Myoclonic epilepsy with ragged red fibers, Nephropathy, tubulointerstitial, Encephalopathy, mitochondrial, Epilepsy, mitochondrial, Myopathy, mitochondrial, Mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes<\/td>\n \u4e0d\u898f\u5247\u306a\u8d64\u8272\u7dda\u7dad\u3092\u4f34\u3046\u30df\u30aa\u30af\u30ed\u30cb\u30fc\u6027\u3066\u3093\u304b\u3093\u3001\u814e\u75c7\u3001\u5c3f\u7d30\u7ba1\u9593\u8cea\u6027\u3001\u8133\u75c7\u3001\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2\u6027\u3001\u3066\u3093\u304b\u3093\u3001\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2\u6027\u3001\u30df\u30aa\u30d1\u30c1\u30fc\u3001\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2\u6027\u3001\u4e73\u9178\u30a2\u30b7\u30c9\u30fc\u30b7\u30b9\u304a\u3088\u3073\u8133\u5352\u4e2d\u69d8\u30a8\u30d4\u30bd\u30fc\u30c9\u3092\u4f34\u3046\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2\u8133\u7b4b\u75c7<\/td>\n Mitochondrial<\/td>\n <\/tr>\n
    MT-TG<\/td>\n <\/td>\n <\/td>\n Mitochondrial<\/td>\n <\/tr>\n
    MT-TH<\/td>\n <\/td>\n <\/td>\n Mitochondrial<\/td>\n <\/tr>\n
    MT-TI<\/td>\n <\/td>\n <\/td>\n Mitochondrial<\/td>\n <\/tr>\n
    MT-TK<\/td>\n Myoclonic epilepsy with ragged red fibers, Leigh syndrome<\/td>\n \u4e0d\u898f\u5247\u306a\u8d64\u3044\u7dda\u7dad\u3092\u4f34\u3046\u30df\u30aa\u30af\u30ed\u30cb\u30fc\u3066\u3093\u304b\u3093\u3001\u30ea\u30fc\u75c7\u5019\u7fa4<\/td>\n Mitochondrial<\/td>\n <\/tr>\n
    MT-TL1<\/td>\n Cytochrome c oxidase deficiency, Myoclonic epilepsy with ragged red fibers, Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes, Diabetes-deafness syndrome, Cyclic vomiting syndrome, SIDS, susceptibility to<\/td>\n \u30c1\u30c8\u30af\u30ed\u30e0C\u30aa\u30ad\u30b7\u30c0\u30fc\u30bc\u6b20\u640d\u75c7\u3001\u4e0d\u898f\u5247\u306a\u8d64\u8272\u7dda\u7dad\u3092\u4f34\u3046\u30df\u30aa\u30af\u30ed\u30cb\u30fc\u3066\u3093\u304b\u3093\u3001\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2\u30df\u30aa\u30d1\u30c1\u30fc\u3001\u8133\u75c7\u3001\u4e73\u9178\u30a2\u30b7\u30c9\u30fc\u30b7\u30b9\u3001\u304a\u3088\u3073\u8133\u5352\u4e2d\u69d8\u30a8\u30d4\u30bd\u30fc\u30c9\u3001\u7cd6\u5c3f\u75c5\u96e3\u8074\u75c7\u5019\u7fa4\u3001\u5468\u671f\u6027\u5614\u5410\u75c7\u5019\u7fa4\u3001SIDS\u3001\u4ee5\u4e0b\u306b\u5bfe\u3059\u308b\u611f\u53d7\u6027<\/td>\n Mitochondrial<\/td>\n <\/tr>\n
    MT-TL2<\/td>\n Mitochondrial multisystemic disorder, Progressive external ophthalmoplegia, Mitochondrial Myopathy, Mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes<\/td>\n \u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2\u591a\u7cfb\u7d71\u969c\u5bb3\u3001\u9032\u884c\u6027\u5916\u773c\u7b4b\u9ebb\u75fa\u3001\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2\u7b4b\u75c7\u3001\u4e73\u9178\u30a2\u30b7\u30c9\u30fc\u30b7\u30b9\u304a\u3088\u3073\u8133\u5352\u4e2d\u69d8\u30a8\u30d4\u30bd\u30fc\u30c9\u3092\u4f34\u3046\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2\u8133\u7b4b\u75c7<\/td>\n Mitochondrial<\/td>\n <\/tr>\n
    MT-TM<\/td>\n Leigh syndrome, Mitochondrial multisystemic disorder<\/td>\n \u30ea\u30fc\u75c7\u5019\u7fa4\u3001\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2\u591a\u7cfb\u7d71\u969c\u5bb3<\/td>\n Mitochondrial<\/td>\n <\/tr>\n
    MT-TN<\/td>\n Progressive external ophthalmoplegia, Mitochondrial multisystemic disorder<\/td>\n \u9032\u884c\u6027\u5916\u773c\u7b4b\u9ebb\u75fa\u3001\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2\u591a\u7cfb\u7d71\u969c\u5bb3<\/td>\n Mitochondrial<\/td>\n <\/tr>\n
    MT-TP<\/td>\n <\/td>\n <\/td>\n Mitochondrial<\/td>\n <\/tr>\n
    MT-TR<\/td>\n Encephalopathy, mitochondrial<\/td>\n \u8133\u75c7\u3001\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2<\/td>\n Mitochondrial<\/td>\n <\/tr>\n
    MT-TS1<\/td>\n Myoclonic epilepsy with ragged red fibers, Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes<\/td>\n \u4e0d\u898f\u5247\u306a\u8d64\u3044\u7dda\u7dad\u3092\u4f34\u3046\u30df\u30aa\u30af\u30ed\u30cb\u30fc\u3066\u3093\u304b\u3093\u3001\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2\u6027\u30df\u30aa\u30d1\u30c1\u30fc\u3001\u8133\u75c7\u3001\u4e73\u9178\u30a2\u30b7\u30c9\u30fc\u30b7\u30b9\u3001\u304a\u3088\u3073\u8133\u5352\u4e2d\u69d8\u30a8\u30d4\u30bd\u30fc\u30c9<\/td>\n Mitochondrial<\/td>\n <\/tr>\n
    MT-TS2<\/td>\n Mitochondrial multisystemic disorder<\/td>\n \u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2\u591a\u7cfb\u7d71\u969c\u5bb3<\/td>\n Mitochondrial<\/td>\n <\/tr>\n
    MT-TT<\/td>\n <\/td>\n <\/td>\n Mitochondrial<\/td>\n <\/tr>\n
    MT-TV<\/td>\n Hypertrophic cardiomyopathy (HCM), Leigh syndrome, Mitochondrial multisystemic disorder, Mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes<\/td>\n \u80a5\u5927\u578b\u5fc3\u7b4b\u75c7\uff08HCM\uff09\u3001\u30ea\u30fc\u75c7\u5019\u7fa4\u3001\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2\u591a\u7cfb\u7d71\u969c\u5bb3\u3001\u4e73\u9178\u30a2\u30b7\u30c9\u30fc\u30b7\u30b9\u304a\u3088\u3073\u8133\u5352\u4e2d\u69d8\u30a8\u30d4\u30bd\u30fc\u30c9\u3092\u4f34\u3046\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2\u8133\u7b4b\u75c7<\/td>\n Mitochondrial<\/td>\n <\/tr>\n
    MT-TW<\/td>\n Leigh syndrome, Myopathy, mitochondrial<\/td>\n \u30ea\u30fc\u75c7\u5019\u7fa4\u3001\u30df\u30aa\u30d1\u30c1\u30fc\u3001\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2<\/td>\n Mitochondrial<\/td>\n <\/tr>\n
    MT-TY<\/td>\n Mitochondrial multisystemic disorder<\/td>\n \u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2\u591a\u7cfb\u7d71\u969c\u5bb3<\/td>\n Mitochondrial<\/td>\n <\/tr>\n
    NBEA<\/td>\n Epilepsy<\/td>\n \u3066\u3093\u304b\u3093<\/td>\n AD<\/td>\n <\/tr>\n
    NFIB<\/td>\n Macrocephaly<\/td>\n \u5927\u982d\u75c7<\/td>\n AD<\/td>\n <\/tr>\n
    NLGN3<\/td>\n Autism, Asperger syndrome<\/td>\n \u81ea\u9589\u75c7\u3001\u30a2\u30b9\u30da\u30eb\u30ac\u30fc\u75c7\u5019\u7fa4<\/td>\n XL<\/td>\n <\/tr>\n
    NLGN4X<\/td>\n Autism, Asperger syndrome, Intellectual developmental disorder<\/td>\n \u81ea\u9589\u75c7\u3001\u30a2\u30b9\u30da\u30eb\u30ac\u30fc\u75c7\u5019\u7fa4\u3001\u77e5\u7684\u767a\u9054\u969c\u5bb3<\/td>\n XL<\/td>\n <\/tr>\n
    NSD1<\/td>\n Sotos syndrome, Weaver syndrome, Beckwith-Wiedemann syndrome<\/td>\n \u30bd\u30c8\u30b9\u75c7\u5019\u7fa4\u3001\u30a6\u30a3\u30fc\u30d0\u30fc\u75c7\u5019\u7fa4\u3001\u30d9\u30c3\u30af\u30a6\u30a3\u30ba\u30fb\u30f4\u30a3\u30fc\u30c7\u30de\u30f3\u75c7\u5019\u7fa4<\/td>\n AD<\/td>\n <\/tr>\n
    POGZ<\/td>\n Mental retardation, autosomal dominant 37 (White-Sutton syndrome)<\/td>\n \u7cbe\u795e\u9045\u6ede\u3001\u5e38\u67d3\u8272\u4f53\u512a\u6027\u907a\u4f1d 37 (\u30db\u30ef\u30a4\u30c8\u30fb\u30b5\u30c3\u30c8\u30f3\u75c7\u5019\u7fa4)<\/td>\n AD<\/td>\n <\/tr>\n
    PTCHD1<\/td>\n Autism susceptibility, X-linked 4<\/td>\n \u81ea\u9589\u75c7\u611f\u53d7\u6027\u3001X\u9023\u93964<\/td>\n XL<\/td>\n <\/tr>\n
    PTEN<\/td>\n Bannayan-Riley-Ruvalcaba syndrome, Lhermitte-Duclos syndrome, Cowden syndrome<\/td>\n \u30d0\u30ca\u30ca\u30e4\u30f3\u30fb\u30e9\u30a4\u30ea\u30fc\u30fb\u30eb\u30f4\u30a1\u30eb\u30ab\u30d0\u75c7\u5019\u7fa4\u3001\u30ec\u30eb\u30df\u30c3\u30c8\u30fb\u30c7\u30e5\u30af\u30ed\u75c7\u5019\u7fa4\u3001\u30ab\u30a6\u30c7\u30f3\u75c7\u5019\u7fa4<\/td>\n AD<\/td>\n <\/tr>\n
    RPL10<\/td>\n Autism<\/td>\n \u81ea\u9589\u75c7<\/td>\n XL<\/td>\n <\/tr>\n
    SHANK3<\/td>\n Phelan-McDermid syndrome, Schizophrenia 15<\/td>\n \u30d5\u30a7\u30e9\u30f3\u30fb\u30de\u30af\u30c0\u30fc\u30df\u30c9\u75c7\u5019\u7fa4\u3001\u7d71\u5408\u5931\u8abf\u75c7 15<\/td>\n AD<\/td>\n <\/tr>\n
    TBR1<\/td>\n Intellectual developmental disorder<\/td>\n \u77e5\u7684\u767a\u9054\u969c\u5bb3<\/td>\n AD<\/td>\n <\/tr>\n
    TCF20<\/td>\n Developmental delay and seizures with or without movement abnormalities (DEDSM)<\/td>\n \u767a\u9054\u9045\u5ef6\u304a\u3088\u3073\u904b\u52d5\u7570\u5e38\u3092\u4f34\u3046\u307e\u305f\u306f\u4f34\u308f\u306a\u3044\u767a\u4f5c (DEDSM)<\/td>\n AD<\/td>\n <\/tr>\n
    TRIP12<\/td>\n Intellectual developmental disorder<\/td>\n \u77e5\u7684\u767a\u9054\u969c\u5bb3<\/td>\n AD<\/td>\n <\/tr>\n
    TSC1<\/td>\n Lymphangioleiomyomatosis, Tuberous sclerosis<\/td>\n \u30ea\u30f3\u30d1\u7ba1\u5e73\u6ed1\u7b4b\u816b\u75c7\u3001\u7d50\u7bc0\u6027\u786c\u5316\u75c7<\/td>\n AD<\/td>\n <\/tr>\n
    TSC2<\/td>\n Lymphangioleiomyomatosis, Tuberous sclerosis<\/td>\n \u30ea\u30f3\u30d1\u7ba1\u5e73\u6ed1\u7b4b\u816b\u75c7\u3001\u7d50\u7bc0\u6027\u786c\u5316\u75c7<\/td>\n AD<\/td>\n <\/tr>\n
    VAMP2<\/td>\n <\/td>\n <\/td>\n AD<\/td>\n <\/tr>\n
    WASF1<\/td>\n Intellectual disability and seizures<\/td>\n \u77e5\u7684\u969c\u5bb3\u3068\u767a\u4f5c<\/td>\n AD<\/td>\n <\/tr>\n
    ZSWIM6<\/td>\n Acromelic frontonasal dysostosis<\/td>\n \u5148\u7aef\u90e8\u524d\u9f3b\u8154\u9aa8\u7570\u5f62\u6210\u75c7<\/td>\n AD<\/td>\n <\/tr>\n
    <\/td>\n <\/td>\n <\/td>\n <\/td>\n <\/tr>\n
    <\/td>\n <\/td>\n <\/td>\n <\/td>\n <\/tr>\n
    Non-coding variant<\/td>\n \u975e\u30b3\u30fc\u30c7\u30a3\u30f3\u30b0\u306e\u30d0\u30ea\u30a2\u30f3\u30c8<\/td>\n <\/td>\n <\/td>\n <\/td>\n <\/tr>\n
    Gene<\/td>\n Genomic location HG19<\/td>\n HGVS<\/td>\n RefSeq<\/td>\n RS-number<\/td>\n <\/tr>\n
    EHMT1<\/td>\n Chr9:140678546<\/td>\n c.2382+1697T>G<\/td>\n NM_024757.4<\/td>\n rs786205602<\/td>\n <\/tr>\n
    GAMT<\/td>\n Chr19:1399508<\/td>\n c.391+15G>T<\/td>\n NM_138924.2<\/td>\n rs367567416<\/td>\n <\/tr>\n
    PTEN<\/td>\n Chr10:89622883-89623482<\/td>\n <\/td>\n <\/td>\n <\/td>\n <\/tr>\n
    PTEN<\/td>\n Chr10:89622988<\/td>\n c.-1239A>G<\/td>\n NM_000314.6<\/td>\n <\/td>\n <\/tr>\n
    PTEN<\/td>\n Chr10:89623049<\/td>\n c.-1178C>T<\/td>\n NM_000314.6<\/td>\n <\/td>\n <\/tr>\n
    PTEN<\/td>\n Chr10:89623056<\/td>\n c.-1171C>T<\/td>\n NM_000314.6<\/td>\n rs587779981<\/td>\n <\/tr>\n
    PTEN<\/td>\n Chr10:89623116<\/td>\n c.-1111A>G<\/td>\n NM_000314.6<\/td>\n <\/td>\n <\/tr>\n
    PTEN<\/td>\n Chr10:89623226<\/td>\n c.-1001T>C<\/td>\n NM_000314.4<\/td>\n <\/td>\n <\/tr>\n
    PTEN<\/td>\n Chr10:89623296<\/td>\n c.-931G>A<\/td>\n NM_000314.4<\/td>\n rs587781959<\/td>\n <\/tr>\n
    PTEN<\/td>\n Chr10:89623306<\/td>\n c.-921G>T<\/td>\n NM_000314.4<\/td>\n <\/td>\n <\/tr>\n
    PTEN<\/td>\n Chr10:89623331<\/td>\n c.-896T>C<\/td>\n NM_000314.4<\/td>\n <\/td>\n <\/tr>\n
    PTEN<\/td>\n Chr10:89623365<\/td>\n c.-862G>T<\/td>\n NM_000314.4<\/td>\n rs587776675<\/td>\n <\/tr>\n
    PTEN<\/td>\n Chr10:89623373<\/td>\n c.-854C>G<\/td>\n NM_000314.4<\/td>\n <\/td>\n <\/tr>\n
    PTEN<\/td>\n Chr10:89623392<\/td>\n c.-835C>T<\/td>\n NM_000314.4<\/td>\n rs587779994<\/td>\n <\/tr>\n
    PTEN<\/td>\n Chr10:89623428<\/td>\n c.-799G>C<\/td>\n NM_000314.4<\/td>\n rs587779992<\/td>\n <\/tr>\n
    PTEN<\/td>\n Chr10:89623462<\/td>\n c.-765G>A<\/td>\n NM_000314.4<\/td>\n <\/td>\n <\/tr>\n
    PTEN<\/td>\n Chr10:89690791<\/td>\n c.210-8dupT<\/td>\n NM_000314.4<\/td>\n <\/td>\n <\/tr>\n
    PTEN<\/td>\n Chr10:89692749<\/td>\n c.254-21G>C<\/td>\n NM_000314.4<\/td>\n <\/td>\n <\/tr>\n
    PTEN<\/td>\n Chr10:89725294<\/td>\n c.*65T>A<\/td>\n NM_000314.4<\/td>\n <\/td>\n <\/tr>\n
    PTEN<\/td>\n Chr10:89725304<\/td>\n c.*75_*92delTAATGGCAATAGGACATTinsCTATGGCAATAGGACATTG<\/td>\n NM_000314.4<\/td>\n <\/td>\n <\/tr>\n
    TSC1<\/td>\n Chr9:135800306<\/td>\n c.363+668G>A<\/td>\n NM_000368.4<\/td>\n <\/td>\n <\/tr>\n
    TSC2<\/td>\n Chr16:2098067<\/td>\n c.-30+1G>C<\/td>\n NM_000548.3<\/td>\n rs587778004<\/td>\n <\/tr>\n
    TSC2<\/td>\n Chr16:2106052<\/td>\n c.600-145C>T<\/td>\n NM_000548.3<\/td>\n <\/td>\n <\/tr>\n
    TSC2<\/td>\n Chr16:2107460<\/td>\n c.848+281C>T<\/td>\n NM_000548.3<\/td>\n rs45517132<\/td>\n <\/tr>\n
    TSC2<\/td>\n Chr16:2110656<\/td>\n c.976-15G>A<\/td>\n NM_000548.3<\/td>\n rs45517150<\/td>\n <\/tr>\n
    TSC2<\/td>\n Chr16:2127477<\/td>\n c.2838-122G>A<\/td>\n NM_000548.3<\/td>\n <\/td>\n <\/tr>\n
    TSC2<\/td>\n Chr16:2138031<\/td>\n c.5069-18A>G<\/td>\n <\/td>\n <\/td>\n <\/tr>\n\n <\/table>\n\n\u3000\u3000\u3000\u3000<\/div>\n <\/div>\n <\/div>\n<\/section>\n\n