{"id":199,"date":"2024-03-27T06:18:11","date_gmt":"2024-03-27T06:18:11","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/gene\/?post_type=disease&#038;p=199"},"modified":"2024-03-27T06:18:35","modified_gmt":"2024-03-27T06:18:35","slug":"hereditary-ataxias","status":"publish","type":"disease","link":"https:\/\/www.hiro-clinic.or.jp\/gene\/disease\/hereditary-ataxias\/","title":{"rendered":"\u5c0f\u8133\u5931\u8abf\u75c7\u3001\u767a\u4f5c\u6027\u5931\u8abf\u75c7\u3001\u810a\u9ac4\u5c0f\u8133\u5931\u8abf\u75c7\u306a\u3069\u306e\u907a\u4f1d\u6027\u5931\u8abf\u75c7"},"content":{"rendered":"\n<figure class=\"wp-block-table\"><table><tbody><tr><td>Gene<\/td><td>\u95a2\u9023\u3059\u308b\u8868\u73fe\u578b<\/td><td>Inheritance<\/td><\/tr><tr><td>AARS2<\/td><td>\u767d\u8cea\u8133\u75c7\u3001\u9032\u884c\u6027\u3001\u5375\u5de3\u4e0d\u5168\u3092\u4f34\u3046\u3001\u8907\u5408\u9178\u5316\u7684\u30ea\u30f3\u9178\u5316\u6b20\u640d\u75c7 8<\/td><td>AR<\/td><\/tr><tr><td>ABCA2<\/td><td>\u77e5\u7684\u969c\u5bb3\u3068\u767a\u4f5c<\/td><td>AR<\/td><\/tr><tr><td>ABCB7<\/td><td>\u8ca7\u8840\u3001\u9244\u82bd\u7403\u6027\u3001\u810a\u9ac4\u5c0f\u8133\u5931\u8abf\u75c7<\/td><td>XL<\/td><\/tr><tr><td>ABCD1<\/td><td>\u526f\u814e\u767d\u8cea\u30b8\u30b9\u30c8\u30ed\u30d5\u30a3\u30fc<\/td><td>XL<\/td><\/tr><tr><td>ABHD12<\/td><td>\u591a\u767a\u6027\u795e\u7d4c\u969c\u5bb3\u3001\u96e3\u8074\u3001\u904b\u52d5\u5931\u8abf\u3001\u7db2\u819c\u8272\u7d20\u5909\u6027\u75c7\u3001\u767d\u5185\u969c<\/td><td>AR<\/td><\/tr><tr><td>ACO2<\/td><td>\u8996\u795e\u7d4c\u840e\u7e2e\u3001\u4e73\u5150\u5c0f\u8133\u7db2\u819c\u5909\u6027\u75c7<\/td><td>AD\/AR<\/td><\/tr><tr><td>ADCK3<\/td><td>\u30b3\u30a8\u30f3\u30b6\u30a4\u30e0Q10\u6b20\u4e4f\u75c7\u3001\u9032\u884c\u6027\u5c0f\u8133\u5931\u8abf\u304a\u3088\u3073\u840e\u7e2e\u3001\u810a\u9ac4\u5c0f\u8133\u5931\u8abf\u75c7<\/td><td>AR<\/td><\/tr><tr><td>ADPRHL2<\/td><td>\u795e\u7d4c\u5909\u6027\u3001\u5c0f\u5150\u671f\u767a\u75c7\u3001\u8133\u840e\u7e2e\u3092\u4f34\u3046<\/td><td>AR<\/td><\/tr><tr><td>AFG3L2<\/td><td>\u75d9\u6027\u904b\u52d5\u5931\u8abf\u3001\u810a\u9ac4\u5c0f\u8133\u5931\u8abf\u75c7<\/td><td>AD\/AR<\/td><\/tr><tr><td>AGTPBP1<\/td><td>\u795e\u7d4c\u969c\u5bb3<\/td><td>AR<\/td><\/tr><tr><td>AHI1<\/td><td>\u30b8\u30e5\u30d9\u30fc\u30eb\u75c7\u5019\u7fa4<\/td><td>AR<\/td><\/tr><tr><td>ALDH5A1<\/td><td>\u30b3\u30cf\u30af\u9178\u30bb\u30df\u30a2\u30eb\u30c7\u30d2\u30c9\u30c7\u30d2\u30c9\u30ed\u30b2\u30ca\u30fc\u30bc\u6b20\u640d\u75c7<\/td><td>AR<\/td><\/tr><tr><td>ANO10<\/td><td>\u810a\u9ac4\u5c0f\u8133\u5931\u8abf\u75c7<\/td><td>AR<\/td><\/tr><tr><td>APTX<\/td><td>\u773c\u7403\u904b\u52d5\u5931\u884c\u304a\u3088\u3073\u4f4e\u30a2\u30eb\u30d6\u30df\u30f3\u8840\u75c7\u3092\u4f34\u3046\u3001\u65e9\u671f\u767a\u75c7\u306e\u904b\u52d5\u5931\u8abf<\/td><td>AR<\/td><\/tr><tr><td>ARL13B<\/td><td>\u30b8\u30e5\u30d9\u30fc\u30eb\u75c7\u5019\u7fa4<\/td><td>AR<\/td><\/tr><tr><td>ARL6<\/td><td>\u30d0\u30eb\u30c7\u30fb\u30d3\u30fc\u30c9\u30eb\u75c7\u5019\u7fa4\u3001\u7db2\u819c\u8272\u7d20\u5909\u6027\u75c7<\/td><td>AR<\/td><\/tr><tr><td>ATCAY<\/td><td>\u904b\u52d5\u5931\u8abf\u3001\u5c0f\u8133\u3001\u30b1\u30a4\u30de\u30f3<\/td><td>AR<\/td><\/tr><tr><td>ATM<\/td><td>\u4e73\u304c\u3093\u3001\u6bdb\u7d30\u8840\u7ba1\u62e1\u5f35\u6027\u904b\u52d5\u5931\u8abf\u75c7<\/td><td>AD\/AR<\/td><\/tr><tr><td>ATP13A2<\/td><td>\u30d1\u30fc\u30ad\u30f3\u30bd\u30f3\u75c5\uff08\u30af\u30d5\u30a9\u30fc\u30fb\u30e9\u30b1\u30d6\u75c7\u5019\u7fa4\uff09<\/td><td>AR<\/td><\/tr><tr><td>ATP1A3<\/td><td>\u5c0f\u5150\u671f\u306e\u4ea4\u4e92\u6027\u7247\u9ebb\u75fa\u3001\u30b8\u30b9\u30c8\u30cb\u30a2 12<\/td><td>AD<\/td><\/tr><tr><td>ATP2B3<\/td><td>\u810a\u9ac4\u5c0f\u8133\u5931\u8abf\u75c7\u3001X \u9023\u9396 1<\/td><td>XL<\/td><\/tr><tr><td>ATP7B<\/td><td>\u30a6\u30a3\u30eb\u30bd\u30f3\u75c5<\/td><td>AR<\/td><\/tr><tr><td>ATP8A2<\/td><td>\u7570\u5e38\u5e73\u8861\u75c7\u5019\u7fa4<\/td><td>AR<\/td><\/tr><tr><td>AUH<\/td><td>3-\u30e1\u30c1\u30eb\u30b0\u30eb\u30bf\u30b3\u30f3\u9178\u5c3f\u75c7<\/td><td>AR<\/td><\/tr><tr><td>BBS1<\/td><td>\u30d0\u30eb\u30c7\u30fb\u30d3\u30fc\u30c9\u30eb\u75c7\u5019\u7fa4<\/td><td>AR<\/td><\/tr><tr><td>BBS10<\/td><td>\u30d0\u30eb\u30c7\u30fb\u30d3\u30fc\u30c9\u30eb\u75c7\u5019\u7fa4<\/td><td>AR<\/td><\/tr><tr><td>BBS12<\/td><td>\u30d0\u30eb\u30c7\u30fb\u30d3\u30fc\u30c9\u30eb\u75c7\u5019\u7fa4<\/td><td>AR<\/td><\/tr><tr><td>BBS2<\/td><td>\u30d0\u30eb\u30c7\u30fb\u30d3\u30fc\u30c9\u30eb\u75c7\u5019\u7fa4\u3001\u7db2\u819c\u8272\u7d20\u5909\u6027\u75c7<\/td><td>AR<\/td><\/tr><tr><td>BBS4<\/td><td>\u30d0\u30eb\u30c7\u30fb\u30d3\u30fc\u30c9\u30eb\u75c7\u5019\u7fa4<\/td><td>AR<\/td><\/tr><tr><td>BBS5<\/td><td>\u30d0\u30eb\u30c7\u30fb\u30d3\u30fc\u30c9\u30eb\u75c7\u5019\u7fa4<\/td><td>AR<\/td><\/tr><tr><td>BBS7<\/td><td>\u30d0\u30eb\u30c7\u30fb\u30d3\u30fc\u30c9\u30eb\u75c7\u5019\u7fa4<\/td><td>AR<\/td><\/tr><tr><td>BBS9<\/td><td>\u30d0\u30eb\u30c7\u30fb\u30d3\u30fc\u30c9\u30eb\u75c7\u5019\u7fa4<\/td><td>AR<\/td><\/tr><tr><td>BEAN1<\/td><td>\u810a\u9ac4\u5c0f\u8133\u5931\u8abf\u75c7<\/td><td>AD<\/td><\/tr><tr><td>C10ORF2<\/td><td>\u30da\u30ed\u30fc\u75c7\u5019\u7fa4\u3001\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2 DNA \u67af\u6e07\u75c7\u5019\u7fa4\u3001\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2 DNA \u6b20\u5931\u3092\u4f34\u3046\u9032\u884c\u6027\u5916\u773c\u7b4b\u9ebb\u75fa\u3001\u5e38\u67d3\u8272\u4f53\u512a\u6027\u30013<\/td><td>AD\/AR<\/td><\/tr><tr><td>C12ORF4<\/td><td>\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><td>AR<\/td><\/tr><tr><td>C5ORF42<\/td><td>\u53e3\u8154\u6307\u75c7\u5019\u7fa4 VI\u3001\u30b8\u30e5\u30d9\u30fc\u30eb\u75c7\u5019\u7fa4 17<\/td><td>AR<\/td><\/tr><tr><td>CA8<\/td><td>\u5c0f\u8133\u5931\u8abf\u75c7\u3001\u7cbe\u795e\u9045\u6ede\u3001\u5e73\u8861\u969c\u5bb3\u75c7\u5019\u7fa4<\/td><td>AR<\/td><\/tr><tr><td>CACNA1A<\/td><td>\u7247\u982d\u75db\u3001\u5bb6\u65cf\u6027\u7247\u9ebb\u75fa\u3001\u767a\u4f5c\u6027\u904b\u52d5\u5931\u8abf\u3001\u810a\u9ac4\u5c0f\u8133\u5931\u8abf 6\u3001\u3066\u3093\u304b\u3093\u6027\u8133\u75c7\u3001\u4e73\u5150\u671f\u65e9\u671f\u300142<\/td><td>AD<\/td><\/tr><tr><td>CACNA1G<\/td><td>\u810a\u9ac4\u5c0f\u8133\u5931\u8abf\u75c7 42<\/td><td><\/td><\/tr><tr><td>CACNA2D2<\/td><td>\u65e9\u671f\u4e73\u5150\u3066\u3093\u304b\u3093\u6027\u8133\u75c7\u3001\u9ad8\u96fb\u4f4d\u4f9d\u5b58\u6027\u30ab\u30eb\u30b7\u30a6\u30e0\u30c1\u30e3\u30cd\u30eb\u75c7\u95a2\u9023\u3001\u5e38\u67d3\u8272\u4f53\u52a3\u6027\u907a\u4f1d<\/td><td>AR<\/td><\/tr><tr><td>CACNB4<\/td><td>\u767a\u4f5c\u6027\u904b\u52d5\u5931\u8abf\u3001\u3066\u3093\u304b\u3093\u3001\u7279\u767a\u6027\u5168\u8eab\u6027\u3001\u611f\u53d7\u6027\u30019<\/td><td>AD<\/td><\/tr><tr><td>CAMTA1<\/td><td>\u5c0f\u8133\u5931\u8abf\u75c7\u3001\u975e\u9032\u884c\u6027\u3001\u7cbe\u795e\u9045\u6ede\u3092\u4f34\u3046<\/td><td>AD<\/td><\/tr><tr><td>CAPN1<\/td><td>\u75d9\u6027\u5bfe\u9ebb\u75fa 76\u3001\u5e38\u67d3\u8272\u4f53\u52a3\u6027\u907a\u4f1d<\/td><td>AR<\/td><\/tr><tr><td>CASK<\/td><td>\u77e5\u7684\u767a\u9054\u969c\u5bb3\u304a\u3088\u3073\u6a4b\u304a\u3088\u3073\u5c0f\u8133\u5f62\u6210\u4e0d\u5168\u3092\u4f34\u3046\u5c0f\u982d\u75c7\u3001FG\u75c7\u5019\u7fa4\u3001\u77e5\u7684\u767a\u9054\u969c\u5bb3<\/td><td>XL<\/td><\/tr><tr><td>CC2D2A<\/td><td>\u30b3\u30fc\u30c1\u75c7\u5019\u7fa4\u3001\u30b8\u30e5\u30d9\u30fc\u30eb\u75c7\u5019\u7fa4\u3001\u30e1\u30c3\u30b1\u30eb\u75c7\u5019\u7fa4<\/td><td>AR<\/td><\/tr><tr><td>CCDC88C<\/td><td>\u810a\u9ac4\u5c0f\u8133\u5931\u8abf\u75c7<\/td><td>AD<\/td><\/tr><tr><td>CEP290<\/td><td>\u30d0\u30eb\u30c7\u30fb\u30d3\u30fc\u30c9\u30eb\u75c7\u5019\u7fa4\u3001\u30ec\u30fc\u30d9\u30eb\u5148\u5929\u6027\u9ed2\u5185\u969c\u3001\u30b8\u30e5\u30d9\u30fc\u30eb\u75c7\u5019\u7fa4\u3001\u30b7\u30cb\u30a2\u30fb\u30ed\u30fc\u30b1\u30f3\u75c7\u5019\u7fa4\u3001\u30e1\u30c3\u30b1\u30eb\u75c7\u5019\u7fa4<\/td><td>AR<\/td><\/tr><tr><td>CEP41<\/td><td>\u30b8\u30e5\u30d9\u30fc\u30eb\u75c7\u5019\u7fa4<\/td><td>AR\/Digenic<\/td><\/tr><tr><td>CHCHD10<\/td><td>\u30df\u30aa\u30d1\u30c1\u30fc\u3001\u5b64\u7acb\u3057\u305f\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2\u3001\u524d\u982d\u5074\u982d\u578b\u8a8d\u77e5\u75c7\u304a\u3088\u3073\/\u307e\u305f\u306f\u7b4b\u840e\u7e2e\u6027\u5074\u7d22\u786c\u5316\u75c72\u3001\u810a\u9ac4\u6027\u7b4b\u840e\u7e2e\u75c7\u3001\u30b8\u30e7\u30fc\u30b1\u30e9\u578b<\/td><td>AD<\/td><\/tr><tr><td>CLCN2<\/td><td>\u904b\u52d5\u5931\u8abf\u3092\u4f34\u3046\u767d\u8cea\u8133\u75c7\u3001\u3066\u3093\u304b\u3093<\/td><td>AD\/AR<\/td><\/tr><tr><td>CLN5<\/td><td>\u795e\u7d4c\u30bb\u30ed\u30a4\u30c9 \u30ea\u30dd\u30d5\u30b9\u30c1\u30f3\u75c7\u30015 \u578b<\/td><td>AR<\/td><\/tr><tr><td>CLN6<\/td><td>\u795e\u7d4c\u30bb\u30ed\u30a4\u30c9 \u30ea\u30dd\u30d5\u30b9\u30c1\u30f3\u75c7\u30016 \u578b<\/td><td>AR<\/td><\/tr><tr><td>CLN8<\/td><td>\u795e\u7d4c\u30bb\u30ed\u30a4\u30c9 \u30ea\u30dd\u30d5\u30b9\u30c1\u30f3\u75c7\u30018 \u578b<\/td><td>AR<\/td><\/tr><tr><td>CLPB<\/td><td>\u767d\u5185\u969c\u3001\u795e\u7d4c\u5b66\u7684\u95a2\u4e0e\u304a\u3088\u3073\u597d\u4e2d\u7403\u6e1b\u5c11\u75c7\u3092\u4f34\u3046 3-\u30e1\u30c1\u30eb\u30b0\u30eb\u30bf\u30b3\u30f3\u9178\u5c3f\u75c7 (MEGCANN)<\/td><td>AD\/AR<\/td><\/tr><tr><td>CLPP<\/td><td>\u96e3\u8074<\/td><td>AR<\/td><\/tr><tr><td>COA7<\/td><td>\u810a\u9ac4\u5c0f\u8133\u5931\u8abf\u75c7\u3001\u30b7\u30e3\u30eb\u30b3\u30fc\u30fb\u30de\u30ea\u30fc\u30fb\u30c8\u30a5\u30fc\u30b9\u75c5<\/td><td>AR<\/td><\/tr><tr><td>COASY<\/td><td>\u8133\u306e\u9244\u84c4\u7a4d\u3092\u4f34\u3046\u795e\u7d4c\u5909\u6027 6<\/td><td>AR<\/td><\/tr><tr><td>COQ2<\/td><td>\u30b3\u30a8\u30f3\u30b6\u30a4\u30e0Q10\u6b20\u4e4f\u75c7<\/td><td>AR<\/td><\/tr><tr><td>COQ4<\/td><td>\u30b3\u30a8\u30f3\u30b6\u30a4\u30e0Q10\u6b20\u4e4f\u75c7 7<\/td><td>AR<\/td><\/tr><tr><td>COX20<\/td><td>\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2\u8907\u5408\u4f53IV\u6b20\u640d\u75c7<\/td><td>AR<\/td><\/tr><tr><td>CP<\/td><td>\u7121\u30bb\u30eb\u30ed\u30d7\u30e9\u30b9\u30df\u30f3\u8840\u75c7\u3001\u4f4e\u30bb\u30eb\u30ed\u30d7\u30e9\u30b9\u30df\u30f3\u8840\u75c7<\/td><td>AR<\/td><\/tr><tr><td>CSTB<\/td><td>\u3066\u3093\u304b\u3093\u3001\u9032\u884c\u6027\u30df\u30aa\u30af\u30ed\u30cb\u30fc<\/td><td>AR<\/td><\/tr><tr><td>CTBP1<\/td><td><\/td><td><\/td><\/tr><tr><td>CTDP1<\/td><td>\u5148\u5929\u6027\u767d\u5185\u969c\u3001\u9854\u9762\u7570\u5f62\u75c7\u3001\u795e\u7d4c\u969c\u5bb3<\/td><td>AR<\/td><\/tr><tr><td>CTSA<\/td><td>\u30ac\u30e9\u30af\u30c8\u30b7\u30a2\u30ea\u30c9\u30fc\u30b7\u30b9<\/td><td>AR<\/td><\/tr><tr><td>CWF19L1<\/td><td>\u810a\u9ac4\u5c0f\u8133\u5931\u8abf\u75c7<\/td><td>AR<\/td><\/tr><tr><td>CYP27A1<\/td><td>\u8133\u8171\u6027\u9ec4\u8272\u816b\u75c7<\/td><td>AR<\/td><\/tr><tr><td>CYP2U1<\/td><td>\u75d9\u6027\u5bfe\u9ebb\u75fa 56\u3001\u5e38\u67d3\u8272\u4f53\u52a3\u6027\u907a\u4f1d<\/td><td>AR<\/td><\/tr><tr><td>CYP7B1<\/td><td>\u80c6\u6c41\u9178\u5408\u6210\u6b20\u640d\u3001\u75d9\u6027\u5bfe\u9ebb\u75fa 5A\u3001\u5e38\u67d3\u8272\u4f53\u52a3\u6027\u907a\u4f1d<\/td><td>AR<\/td><\/tr><tr><td>DHPS<\/td><td><\/td><td>AR<\/td><\/tr><tr><td>DNAJC19<\/td><td>3-\u30e1\u30c1\u30eb\u30b0\u30eb\u30bf\u30b3\u30f3\u9178\u5c3f\u75c7<\/td><td>AR<\/td><\/tr><tr><td>DNAJC5<\/td><td>\u30af\u30d5\u30b9\u75c5\u3001\u30bb\u30ed\u30a4\u30c9\u30ea\u30dd\u30d5\u30b9\u30c1\u30f3\u75c7\u3001\u30cb\u30e5\u30fc\u30ed\u30f3 4\u3001\u30d1\u30ea\u30fc<\/td><td>AD<\/td><\/tr><tr><td>DNMT1<\/td><td>\u795e\u7d4c\u969c\u5bb3\u3001\u907a\u4f1d\u6027\u611f\u899a\u3001\u5c0f\u8133\u6027\u904b\u52d5\u5931\u8abf\u3001\u96e3\u8074\u3001\u30ca\u30eb\u30b3\u30ec\u30d7\u30b7\u30fc<\/td><td>AD<\/td><\/tr><tr><td>DOCK3<\/td><td>\u904b\u52d5\u5931\u8abf<\/td><td>AR<\/td><\/tr><tr><td>EBF3<\/td><td>\u7b4b\u7dca\u5f35\u4f4e\u4e0b\u3001\u904b\u52d5\u5931\u8abf\u3001\u767a\u9054\u9045\u5ef6\u75c7\u5019\u7fa4 (HADDS)<\/td><td>AD<\/td><\/tr><tr><td>EEF2<\/td><td>\u810a\u9ac4\u5c0f\u8133\u5931\u8abf\u75c7<\/td><td>AD<\/td><\/tr><tr><td>ELOVL4<\/td><td>\u30b7\u30e5\u30bf\u30eb\u30ac\u30eb\u30c8\u75c5\u3001\u9b5a\u9c57\u766c\u3001\u75d9\u6027\u56db\u80a2\u9ebb\u75fa\u3001\u7cbe\u795e\u9045\u6ede\u3001\u810a\u9ac4\u5c0f\u8133\u5931\u8abf\u75c7<\/td><td>AD\/AR<\/td><\/tr><tr><td>ELOVL5<\/td><td>\u810a\u9ac4\u5c0f\u8133\u5931\u8abf\u75c7<\/td><td>AD<\/td><\/tr><tr><td>FA2H<\/td><td>\u75d9\u6027\u5bfe\u9ebb\u75fa<\/td><td>AR<\/td><\/tr><tr><td>FBXL4<\/td><td>\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2 DNA \u67af\u6e07\u75c7\u5019\u7fa4<\/td><td>AR<\/td><\/tr><tr><td>FDXR<\/td><td>\u8074\u899a\u795e\u7d4c\u969c\u5bb3\u3068\u8996\u795e\u7d4c\u840e\u7e2e<\/td><td>AR<\/td><\/tr><tr><td>FGF14<\/td><td>\u810a\u9ac4\u5c0f\u8133\u5931\u8abf\u75c7<\/td><td>AD<\/td><\/tr><tr><td>FLVCR1<\/td><td>\u904b\u52d5\u5931\u8abf\u3001\u5f8c\u67f1\u3001\u7db2\u819c\u8272\u7d20\u5909\u6027\u75c7\u3092\u4f34\u3046<\/td><td>AR<\/td><\/tr><tr><td>FMR1<\/td><td>\u65e9\u767a\u5375\u5de3\u4e0d\u5168\u3001\u8106\u5f31X\u75c7\u5019\u7fa4\u3001\u8106\u5f31X\u632f\u6226\/\u904b\u52d5\u5931\u8abf\u75c7\u5019\u7fa4<\/td><td>XL<\/td><\/tr><tr><td>FXN<\/td><td>\u30d5\u30ea\u30fc\u30c9\u30e9\u30a4\u30d2\u904b\u52d5\u5931\u8abf\u75c7<\/td><td>AR<\/td><\/tr><tr><td>GBA2<\/td><td>\u75d9\u7e2e\u3092\u4f34\u3046\u5c0f\u8133\u5931\u8abf\u75c7<\/td><td>AR<\/td><\/tr><tr><td>GFAP<\/td><td>\u30a2\u30ec\u30af\u30b5\u30f3\u30c0\u30fc\u75c5<\/td><td>AD<\/td><\/tr><tr><td>GOSR2<\/td><td>\u3066\u3093\u304b\u3093\u3001\u9032\u884c\u6027\u30df\u30aa\u30af\u30ed\u30cb\u30fc\u75c7<\/td><td>AR<\/td><\/tr><tr><td>GRID2<\/td><td>\u810a\u9ac4\u5c0f\u8133\u5931\u8abf\u75c7<\/td><td>AR<\/td><\/tr><tr><td>GRM1<\/td><td>\u810a\u9ac4\u5c0f\u8133\u5931\u8abf\u75c7<\/td><td>AD\/AR<\/td><\/tr><tr><td>GSS<\/td><td>\u30b0\u30eb\u30bf\u30c1\u30aa\u30f3\u5408\u6210\u9175\u7d20\u6b20\u640d\u75c7<\/td><td>AR<\/td><\/tr><tr><td>HARS2<\/td><td>\u30da\u30ed\u30fc\u75c7\u5019\u7fa4<\/td><td>AR<\/td><\/tr><tr><td>HEXB<\/td><td>\u30b5\u30f3\u30c9\u30db\u30d5\u75c5<\/td><td>AR<\/td><\/tr><tr><td>HIBCH<\/td><td>3-\u30d2\u30c9\u30ed\u30ad\u30b7\u30a4\u30bd\u30d6\u30c8\u30ea\u30eb-CoA\u30d2\u30c9\u30ed\u30e9\u30fc\u30bc\u6b20\u640d\u75c7<\/td><td>AR<\/td><\/tr><tr><td>INPP5E<\/td><td>\u30b8\u30e5\u30d9\u30fc\u30eb\u75c7\u5019\u7fa4\u3001\u7cbe\u795e\u9045\u6ede\u3001\u4f53\u5e79\u80a5\u6e80\u3001\u7db2\u819c\u30b8\u30b9\u30c8\u30ed\u30d5\u30a3\u30fc\u3001\u5c0f\u9670\u830e\uff08MORM\u75c7\u5019\u7fa4\uff09<\/td><td>AR<\/td><\/tr><tr><td>IRF2BPL<\/td><td>\u7b4b\u7dca\u5f35\u4f4e\u4e0b\u3001\u767a\u4f5c\u3001\u8a00\u8a9e\u306e\u6b20\u5982\u3092\u4f34\u3046\u795e\u7d4c\u767a\u9054\u969c\u5bb3<\/td><td>AD<\/td><\/tr><tr><td>ITM2B<\/td><td>\u8a8d\u77e5\u75c7\u3001\u5bb6\u65cf\u6027\u30c7\u30f3\u30de\u30fc\u30af\u4eba\u3001\u7db2\u819c\u5185\u90e8\u306e\u6a5f\u80fd\u4e0d\u5168\u3068\u795e\u7d4c\u7bc0\u7d30\u80de\u7570\u5e38\u3092\u4f34\u3046\u7db2\u819c\u30b8\u30b9\u30c8\u30ed\u30d5\u30a3\u30fc\u3001\u8133\u30a2\u30df\u30ed\u30a4\u30c9\u8840\u7ba1\u75c7<\/td><td>AD<\/td><\/tr><tr><td>ITPR1<\/td><td>\u810a\u9ac4\u5c0f\u8133\u5931\u8abf\u75c7<\/td><td>AD<\/td><\/tr><tr><td>KCNA1<\/td><td>\u30a8\u30d4\u30bd\u30fc\u30c9\u6027\u904b\u52d5\u5931\u8abf\/\u30df\u30aa\u30ad\u30df\u30a2\u75c7\u5019\u7fa4<\/td><td>AD<\/td><\/tr><tr><td>KCNC3<\/td><td>\u810a\u9ac4\u5c0f\u8133\u5931\u8abf\u75c7<\/td><td>AD<\/td><\/tr><tr><td>KCND3<\/td><td>\u30d6\u30eb\u30ac\u30c0\u75c7\u5019\u7fa4\u3001\u810a\u9ac4\u5c0f\u8133\u5931\u8abf\u75c7 19\u3001\u810a\u9ac4\u5c0f\u8133\u5931\u8abf\u75c7 22<\/td><td>AD<\/td><\/tr><tr><td>KCNJ10<\/td><td>\u767a\u4f5c\u3001\u611f\u97f3\u6027\u96e3\u8074\u3001\u904b\u52d5\u5931\u8abf\u3001\u7cbe\u795e\u9045\u6ede\u3001\u96fb\u89e3\u8cea\u4e0d\u5747\u8861\uff08SESAME\u75c7\u5019\u7fa4\uff09\u3001\u30da\u30f3\u30c9\u30ec\u30c3\u30c9\u75c7\u5019\u7fa4\u3001\u524d\u5ead\u6c34\u9053\u306e\u80a5\u5927<\/td><td>AR\/Digenic<\/td><\/tr><tr><td>KIF1C<\/td><td>\u75d9\u6027\u904b\u52d5\u5931\u8abf\u75c7<\/td><td>AR<\/td><\/tr><tr><td>KIF5A<\/td><td>\u75d9\u6027\u5bfe\u9ebb\u75fa<\/td><td>AD<\/td><\/tr><tr><td>KIF7<\/td><td>\u5148\u7aef\u6881\u75c7\u5019\u7fa4\u3001\u30d2\u30c9\u30ed\u30ec\u30bf\u30eb\u30b9\u75c7\u5019\u7fa4\u3001\u30a2\u30eb\u30fb\u30ac\u30b6\u30ea\u30fb\u30d0\u30ab\u30ea\u30ce\u30d0\u75c7\u5019\u7fa4\u3001\u30b8\u30e5\u30d9\u30fc\u30eb\u75c7\u5019\u7fa4<\/td><td>AR\/Digenic<\/td><\/tr><tr><td>LAMA1<\/td><td>\u30dd\u30ec\u30c3\u30c6\u30a3\u30fb\u30dc\u30eb\u30c8\u30db\u30a4\u30b6\u30fc\u75c7\u5019\u7fa4<\/td><td>AR<\/td><\/tr><tr><td>LARS2<\/td><td>\u30da\u30ed\u30fc\u75c7\u5019\u7fa4\u3001\u6c34\u6ef4\u3001\u4e73\u9178\u30a2\u30b7\u30c9\u30fc\u30b7\u30b9\u3001\u9244\u82bd\u7403\u6027\u8ca7\u8840\uff08HLASA\uff09<\/td><td>AR<\/td><\/tr><tr><td>LMNB1<\/td><td>\u767d\u8cea\u30b8\u30b9\u30c8\u30ed\u30d5\u30a3\u30fc\u3001\u8131\u9ac4\u6027\u3001\u6210\u4eba\u767a\u75c7\u3001\u5e38\u67d3\u8272\u4f53\u512a\u6027<\/td><td>AD<\/td><\/tr><tr><td>LRPPRC<\/td><td>\u30ea\u30fc\u75c7\u5019\u7fa4\u3001\u30d5\u30e9\u30f3\u30b9\u7cfb\u30ab\u30ca\u30c0\u4eba\u578b<\/td><td>AR<\/td><\/tr><tr><td>LRSAM1<\/td><td>\u30b7\u30e3\u30eb\u30b3\u30fc\u30fb\u30de\u30ea\u30fc\u30fb\u30c8\u30a5\u30fc\u30b9\u75c5<\/td><td>AD\/AR<\/td><\/tr><tr><td>MARS2<\/td><td>\u8907\u5408\u9178\u5316\u7684\u30ea\u30f3\u9178\u5316\u6b20\u640d\u75c7<\/td><td>AR<\/td><\/tr><tr><td>MECR<\/td><td>\u8996\u795e\u7d4c\u840e\u7e2e\u304a\u3088\u3073\u5927\u8133\u57fa\u5e95\u6838\u7570\u5e38\u3092\u4f34\u3046\u5c0f\u5150\u671f\u767a\u75c7\u306e\u30b8\u30b9\u30c8\u30cb\u30a2 (DYTOABG)<\/td><td>AR<\/td><\/tr><tr><td>MGME1<\/td><td>\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2 DNA \u67af\u6e07\u75c7\u5019\u7fa4 11<\/td><td>AR<\/td><\/tr><tr><td>MKKS<\/td><td>\u30d0\u30eb\u30c7\u30fb\u30d3\u30fc\u30c9\u30eb\u75c7\u5019\u7fa4\u3001\u30de\u30af\u30b7\u30c3\u30af\u30fb\u30ab\u30a6\u30d5\u30de\u30f3\u75c7\u5019\u7fa4<\/td><td>AR<\/td><\/tr><tr><td>MKS1<\/td><td>\u30d0\u30eb\u30c7\u30fb\u30d3\u30fc\u30c9\u30eb\u75c7\u5019\u7fa4\u3001\u30e1\u30c3\u30b1\u30eb\u75c7\u5019\u7fa4<\/td><td>AR<\/td><\/tr><tr><td>MME<\/td><td>\u810a\u9ac4\u5c0f\u8133\u5931\u8abf\u75c7 43\u3001\u30b7\u30e3\u30eb\u30b3\u30fc\u30fb\u30de\u30ea\u30fc\u30fb\u30c8\u30a5\u30fc\u30b9\u75c5\u3001\u8ef8\u7d22\u3001\u30bf\u30a4\u30d7 2T<\/td><td>AD\/AR<\/td><\/tr><tr><td>MRE11A<\/td><td>\u904b\u52d5\u5931\u8abf-\u6bdb\u7d30\u8840\u7ba1\u62e1\u5f35\u75c7\u69d8\u969c\u5bb3-1<\/td><td>AR<\/td><\/tr><tr><td>MSTO1<\/td><td>\u30df\u30aa\u30d1\u30c1\u30fc\u3001\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2\u3001\u904b\u52d5\u5931\u8abf<\/td><td>AR<\/td><\/tr><tr><td>MT-ATP6<\/td><td>\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><td>Mitochondrial<\/td><\/tr><tr><td>MT-ATP8<\/td><td>\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><td>Mitochondrial<\/td><\/tr><tr><td>MT-CO1<\/td><td>\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><td>Mitochondrial<\/td><\/tr><tr><td>MT-CO2<\/td><td>\u30c1\u30c8\u30af\u30ed\u30e0C\u30aa\u30ad\u30b7\u30c0\u30fc\u30bc\u6b20\u640d\u75c7<\/td><td>Mitochondrial<\/td><\/tr><tr><td>MT-CO3<\/td><td>\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><td>Mitochondrial<\/td><\/tr><tr><td>MT-CYB<\/td><td>#VALUE!<\/td><td>Mitochondrial<\/td><\/tr><tr><td>MT-ND1<\/td><td>\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><td>Mitochondrial<\/td><\/tr><tr><td>MT-ND2<\/td><td>\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><td>Mitochondrial<\/td><\/tr><tr><td>MT-ND3<\/td><td>\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><td>Mitochondrial<\/td><\/tr><tr><td>MT-ND4<\/td><td>\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><td>Mitochondrial<\/td><\/tr><tr><td>MT-ND4L<\/td><td>\u30ec\u30d0\u30fc\u907a\u4f1d\u6027\u8996\u795e\u7d4c\u75c7<\/td><td>Mitochondrial<\/td><\/tr><tr><td>MT-ND5<\/td><td>\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><td>Mitochondrial<\/td><\/tr><tr><td>MT-ND6<\/td><td>\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\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><td>Mitochondrial<\/td><\/tr><tr><td>MT-RNR1<\/td><td>\u96e3\u8074\u3001\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2<\/td><td>Mitochondrial<\/td><\/tr><tr><td>MT-RNR2<\/td><td>\u30af\u30ed\u30e9\u30e0\u30d5\u30a7\u30cb\u30b3\u30fc\u30eb\u306e\u6bd2\u6027\/\u8010\u6027<\/td><td>Mitochondrial<\/td><\/tr><tr><td>MT-TA<\/td><td><\/td><td>Mitochondrial<\/td><\/tr><tr><td>MT-TC<\/td><td>\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><td>Mitochondrial<\/td><\/tr><tr><td>MT-TD<\/td><td><\/td><td>Mitochondrial<\/td><\/tr><tr><td>MT-TE<\/td><td>\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><td>Mitochondrial<\/td><\/tr><tr><td>MT-TF<\/td><td>\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><td>Mitochondrial<\/td><\/tr><tr><td>MT-TG<\/td><td><\/td><td>Mitochondrial<\/td><\/tr><tr><td>MT-TH<\/td><td><\/td><td>Mitochondrial<\/td><\/tr><tr><td>MT-TI<\/td><td><\/td><td>Mitochondrial<\/td><\/tr><tr><td>MT-TK<\/td><td>\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><td>Mitochondrial<\/td><\/tr><tr><td>MT-TL1<\/td><td>\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\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\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><td>Mitochondrial<\/td><\/tr><tr><td>MT-TL2<\/td><td>\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><td>Mitochondrial<\/td><\/tr><tr><td>MT-TM<\/td><td>\u30ea\u30fc\u75c7\u5019\u7fa4\u3001\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2\u591a\u7cfb\u7d71\u969c\u5bb3<\/td><td>Mitochondrial<\/td><\/tr><tr><td>MT-TN<\/td><td>\u9032\u884c\u6027\u5916\u773c\u7b4b\u9ebb\u75fa\u3001\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2\u591a\u7cfb\u7d71\u969c\u5bb3<\/td><td>Mitochondrial<\/td><\/tr><tr><td>MT-TP<\/td><td><\/td><td>Mitochondrial<\/td><\/tr><tr><td>MT-TQ<\/td><td>\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2\u591a\u7cfb\u7d71\u969c\u5bb3<\/td><td>Mitochondrial<\/td><\/tr><tr><td>MT-TR<\/td><td>\u8133\u75c7\u3001\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2<\/td><td>Mitochondrial<\/td><\/tr><tr><td>MT-TS1<\/td><td>\u4e0d\u898f\u5247\u306a\u8d64\u3044\u7dda\u7dad\u3092\u4f34\u3046\u30df\u30aa\u30af\u30ed\u30cb\u30fc\u6027\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><td>Mitochondrial<\/td><\/tr><tr><td>MT-TS2<\/td><td>\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2\u591a\u7cfb\u7d71\u969c\u5bb3<\/td><td>Mitochondrial<\/td><\/tr><tr><td>MT-TT<\/td><td><\/td><td>Mitochondrial<\/td><\/tr><tr><td>MT-TV<\/td><td>\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><td>Mitochondrial<\/td><\/tr><tr><td>MT-TW<\/td><td>\u30ea\u30fc\u75c7\u5019\u7fa4\u3001\u30df\u30aa\u30d1\u30c1\u30fc\u3001\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2<\/td><td>Mitochondrial<\/td><\/tr><tr><td>MT-TY<\/td><td>\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2\u591a\u7cfb\u7d71\u969c\u5bb3<\/td><td>Mitochondrial<\/td><\/tr><tr><td>MTFMT<\/td><td>\u8907\u5408\u9178\u5316\u7684\u30ea\u30f3\u9178\u5316\u6b20\u640d\u75c7 15<\/td><td>AR<\/td><\/tr><tr><td>MTPAP<\/td><td>\u75d9\u6027\u904b\u52d5\u5931\u8abf\u75c7<\/td><td>AR<\/td><\/tr><tr><td>MTTP<\/td><td>\u30a2\u30d9\u30fc\u30bf\u30ea\u30dd\u30bf\u30f3\u30d1\u30af\u8840\u75c7<\/td><td>AR<\/td><\/tr><tr><td>NDUFAF6<\/td><td>\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2\u8907\u5408\u4f53I\u6b20\u640d\u75c7\u3001\u30ea\u30fc\u75c7\u5019\u7fa4<\/td><td>AR<\/td><\/tr><tr><td>NDUFS2<\/td><td>\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2\u8907\u5408\u4f53I\u6b20\u640d\u75c7<\/td><td>AR<\/td><\/tr><tr><td>NDUFS4<\/td><td>\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2\u8907\u5408\u4f53I\u6b20\u640d\u75c7\u3001\u30ea\u30fc\u75c7\u5019\u7fa4<\/td><td>AR<\/td><\/tr><tr><td>NDUFS7<\/td><td>\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2\u8907\u5408\u4f53I\u6b20\u640d\u75c7\u3001\u30ea\u30fc\u75c7\u5019\u7fa4<\/td><td>AR<\/td><\/tr><tr><td>NDUFS8<\/td><td>\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2\u8907\u5408\u4f53I\u6b20\u640d\u75c7\u3001\u30ea\u30fc\u75c7\u5019\u7fa4<\/td><td>AR<\/td><\/tr><tr><td>NDUFV1<\/td><td>\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2\u8907\u5408\u4f53I\u6b20\u640d\u75c7<\/td><td>AR<\/td><\/tr><tr><td>NKX2-1<\/td><td>\u7532\u72b6\u817a\u304c\u3093\u3001\u975e\u9ac4\u69d8\u304c\u3093\u3001\u821e\u8e0f\u75c5\u30a2\u30c6\u30c8\u30fc\u30bc\u3001\u7532\u72b6\u817a\u6a5f\u80fd\u4f4e\u4e0b\u75c7\u3001\u65b0\u751f\u5150\u547c\u5438\u56f0\u96e3\u3001\u821e\u8e0f\u75c5\u3001\u907a\u4f1d\u6027\u826f\u6027<\/td><td>AD<\/td><\/tr><tr><td>NKX6-2<\/td><td>\u75d9\u6027\u904b\u52d5\u5931\u8abf 8\u3001\u5e38\u67d3\u8272\u4f53\u52a3\u6027\u907a\u4f1d\u3001\u9ac4\u9798\u5f62\u6210\u4e0d\u5168\u767d\u8cea\u30b8\u30b9\u30c8\u30ed\u30d5\u30a3\u30fc\u3092\u4f34\u3046<\/td><td>AR<\/td><\/tr><tr><td>NOL3<\/td><td>\u30df\u30aa\u30af\u30ed\u30fc\u30cc\u30b9\u3001\u5bb6\u65cf\u6027\u76ae\u8cea<\/td><td>AD<\/td><\/tr><tr><td>NPC1<\/td><td>\u30cb\u30fc\u30de\u30f3\u30fb\u30d4\u30c3\u30af\u75c5<\/td><td>AR<\/td><\/tr><tr><td>NPC2<\/td><td>\u30cb\u30fc\u30de\u30f3\u30d4\u30c3\u30af\u75c5<\/td><td>AR<\/td><\/tr><tr><td>NPHP1<\/td><td>\u814e\u7d50\u77f3\u75c7\u3001\u30b8\u30e5\u30d9\u30fc\u30eb\u75c7\u5019\u7fa4\u3001\u30b7\u30cb\u30a2\u30ed\u30fc\u30b1\u30f3\u75c7\u5019\u7fa4<\/td><td>AR<\/td><\/tr><tr><td>NUBPL<\/td><td>\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2\u8907\u5408\u4f53I\u6b20\u640d\u75c7<\/td><td>AR<\/td><\/tr><tr><td>OFD1<\/td><td>\u30b7\u30f3\u30d7\u30bd\u30f3\u30fb\u30b4\u30e9\u30d3\u30fb\u30d9\u30fc\u30e1\u30eb\u75c7\u5019\u7fa4\u3001\u7db2\u819c\u8272\u7d20\u5909\u6027\u75c7\u3001\u53e3\u8154\u6307\u75c7\u5019\u7fa4\u3001\u30b8\u30e5\u30d9\u30fc\u30eb\u75c7\u5019\u7fa4<\/td><td>XL<\/td><\/tr><tr><td>OPA1<\/td><td>\u8996\u795e\u7d4c\u840e\u7e2e\u3001\u8996\u795e\u7d4c\u840e\u7e2e 1\u3001\u96e3\u8074\u306e\u6709\u7121\u306b\u304b\u304b\u308f\u3089\u305a\u8996\u795e\u7d4c\u840e\u7e2e\u3001\u773c\u7b4b\u9ebb\u75fa\u3001\u7b4b\u969c\u5bb3\u3001\u904b\u52d5\u5931\u8abf\u3001\u795e\u7d4c\u969c\u5bb3\u3001\u30d9\u30fc\u30a2\u75c7\u5019\u7fa4\u3001\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2 DNA \u67af\u6e07\u75c7\u5019\u7fa4 14<\/td><td>AD\/AR<\/td><\/tr><tr><td>OPHN1<\/td><td>\u5c0f\u8133\u4f4e\u5f62\u6210\u3068\u72ec\u7279\u306e\u9854\u8c8c\u3092\u4f34\u3046\u7cbe\u795e\u9045\u6ede<\/td><td>XL<\/td><\/tr><tr><td>PANK2<\/td><td>\u4f4e\u30d7\u30ec\u30d9\u30fc\u30bf\u30ea\u30dd\u30bf\u30f3\u30d1\u30af\u8840\u75c7\u3001\u6709\u68d8\u8d64\u8840\u7403\u75c7\u3001\u7db2\u819c\u8272\u7d20\u5909\u6027\u75c7\u3001\u6de1\u84bc\u7403\u5909\u6027\u3001\u8133\u9244\u84c4\u7a4d\u3092\u4f34\u3046\u795e\u7d4c\u5909\u6027<\/td><td>AR<\/td><\/tr><tr><td>PAX6<\/td><td>\u7121\u8679\u5f69\u3001\u5c0f\u8133\u6027\u904b\u52d5\u5931\u8abf\u3001\u7cbe\u795e\u9045\u6ede\uff08\u30ac\u30ec\u30b9\u30d4\u30fc\u75c7\u5019\u7fa4\uff09\u3001\u89d2\u819c\u708e\u3001\u30b3\u30ed\u30dc\u30fc\u30de\u3001\u773c\u79d1\u3001\u9045\u767a\u6027\u89d2\u819c\u30b8\u30b9\u30c8\u30ed\u30d5\u30a3\u30fc\u3092\u4f34\u3046\u767d\u5185\u969c\u3001\u671d\u9854\u690e\u9593\u677f\u7570\u5e38\u3001\u4e2d\u5fc3\u7aa9\u5f62\u6210\u4e0d\u5168\u3001\u7121\u8679\u5f69\u3001\u8996\u795e\u7d4c\u5f62\u6210\u4e0d\u5168\u3001\u30d4\u30fc\u30bf\u30fc\u30ba\u7570\u5e38<\/td><td>AD<\/td><\/tr><tr><td>PDYN<\/td><td>\u810a\u9ac4\u5c0f\u8133\u5931\u8abf\u75c7<\/td><td>AD<\/td><\/tr><tr><td>PEX10<\/td><td>\u526f\u814e\u767d\u8cea\u30b8\u30b9\u30c8\u30ed\u30d5\u30a3\u30fc\u3001\u65b0\u751f\u5150\u3001\u30bc\u30eb\u30a6\u30a3\u30ac\u30fc\u75c7\u5019\u7fa4\u3001\u30da\u30eb\u30aa\u30ad\u30b7\u30bd\u30fc\u30e0\u751f\u6210\u969c\u5bb3\u3001\u904b\u52d5\u5931\u8abf<\/td><td>AR<\/td><\/tr><tr><td>PEX16<\/td><td>\u30bc\u30eb\u30a6\u30a3\u30ac\u30fc\u75c7\u5019\u7fa4\u3001\u30da\u30eb\u30aa\u30ad\u30b7\u30bd\u30fc\u30e0\u751f\u5408\u6210\u969c\u5bb3<\/td><td>AR<\/td><\/tr><tr><td>PEX2<\/td><td>\u30bc\u30eb\u30a6\u30a3\u30ac\u30fc\u75c7\u5019\u7fa4\u3001\u30da\u30eb\u30aa\u30ad\u30b7\u30bd\u30fc\u30e0\u751f\u5408\u6210\u969c\u5bb3<\/td><td>AR<\/td><\/tr><tr><td>PEX3<\/td><td>\u30bc\u30eb\u30a6\u30a3\u30ac\u30fc\u75c7\u5019\u7fa4\u3001\u30da\u30eb\u30aa\u30ad\u30b7\u30bd\u30fc\u30e0\u751f\u5408\u6210\u969c\u5bb3<\/td><td>AR<\/td><\/tr><tr><td>PEX6<\/td><td>\u30cf\u30a4\u30e0\u30e9\u30fc\u75c7\u5019\u7fa4\u3001\u30da\u30eb\u30aa\u30ad\u30b7\u30bd\u30fc\u30e0\u751f\u6210\u969c\u5bb3 4A\u3001\u30da\u30eb\u30aa\u30ad\u30b7\u30bd\u30fc\u30e0\u751f\u6210\u969c\u5bb3 4B<\/td><td>AR<\/td><\/tr><tr><td>PEX7<\/td><td>\u30ec\u30d5\u30b5\u30e0\u75c5\u3001\u6839\u830e\u6027 CDP \u30bf\u30a4\u30d7 1<\/td><td>AR<\/td><\/tr><tr><td>PHYH<\/td><td>\u30ec\u30d5\u30b5\u30e0\u75c5<\/td><td>AR<\/td><\/tr><tr><td>PMM2<\/td><td>\u5148\u5929\u6027\u30b0\u30ea\u30b3\u30b7\u30eb\u5316\u969c\u5bb3<\/td><td>AR<\/td><\/tr><tr><td>PNKD<\/td><td>\u767a\u4f5c\u6027\u975e\u904b\u52d5\u8a98\u767a\u6027\u30b8\u30b9\u30ad\u30cd\u30b8\u30a2<\/td><td>AD<\/td><\/tr><tr><td>PNKP<\/td><td>\u3066\u3093\u304b\u3093\u6027\u8133\u75c7\u3001\u4e73\u5150\u671f\u65e9\u671f\u3001\u773c\u7403\u904b\u52d5\u5931\u8abf<\/td><td>AR<\/td><\/tr><tr><td>PNPLA6<\/td><td>\u30ed\u30fc\u30ec\u30f3\u30b9\u30fb\u30e0\u30fc\u30f3\u75c7\u5019\u7fa4\u3001\u30d6\u30fc\u30b7\u30a7\u30fb\u30ce\u30a4\u30cf\u30a6\u30b6\u30fc\u75c7\u5019\u7fa4\u3001\u75d9\u6027\u5bfe\u9ebb\u75fa 39<\/td><td>AR<\/td><\/tr><tr><td>POLG<\/td><td>POLG\u95a2\u9023\u904b\u52d5\u5931\u8abf\u795e\u7d4c\u969c\u5bb3\u30b9\u30da\u30af\u30c8\u30e9\u30e0\u969c\u5bb3\u3001\u611f\u899a\u6027\u904b\u52d5\u5931\u8abf\u3001\u69cb\u97f3\u969c\u5bb3\u3001\u304a\u3088\u3073\u773c\u9ebb\u75fa\u3001\u30a2\u30eb\u30d1\u30fc\u30b9\u75c7\u5019\u7fa4\u3001\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2DNA\u6b20\u5931\u3092\u4f34\u3046\u9032\u884c\u6027\u5916\u773c\u7b4b\u9ebb\u75fa\u3001\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2DNA\u67af\u6e07\u75c7\u5019\u7fa4<\/td><td>AD\/AR<\/td><\/tr><tr><td>PRKCG<\/td><td>\u810a\u9ac4\u5c0f\u8133\u5931\u8abf\u75c7<\/td><td>AD\/AR<\/td><\/tr><tr><td>PRRT2<\/td><td>\u767a\u4f5c\u6027\u904b\u52d5\u539f\u6027\u30b8\u30b9\u30ad\u30cd\u30b8\u30a2\u3001\u767a\u4f5c\u3001\u826f\u6027\u5bb6\u65cf\u6027\u4e73\u5150\u30012\u3001\u3051\u3044\u308c\u3093\u3001\u5bb6\u65cf\u6027\u4e73\u5150\u3001\u767a\u4f5c\u6027\u821e\u8e0f\u75c5\u30a2\u30c6\u30c8\u30fc\u30bc\u3092\u4f34\u3046<\/td><td>AD<\/td><\/tr><tr><td>PUM1<\/td><td>\u904b\u52d5\u5931\u8abf\u3001\u795e\u7d4c\u767a\u9054\u969c\u5bb3<\/td><td>AD<\/td><\/tr><tr><td>RNF216<\/td><td>\u5c0f\u8133\u5931\u8abf\u75c7\u304a\u3088\u3073\u6027\u817a\u523a\u6fc0\u6027\u6a5f\u80fd\u4f4e\u4e0b\u75c7\uff08\u30b4\u30fc\u30c9\u30f3\u30fb\u30db\u30fc\u30e0\u30ba\u75c7\u5019\u7fa4\uff09<\/td><td>AR<\/td><\/tr><tr><td>RORA<\/td><td><\/td><td>AD<\/td><\/tr><tr><td>RPGRIP1L<\/td><td>COACH\u75c7\u5019\u7fa4\u3001\u30b8\u30e5\u30d9\u30fc\u30eb\u75c7\u5019\u7fa4\u3001\u30e1\u30c3\u30b1\u30eb\u75c7\u5019\u7fa4\u3001\u7e4a\u6bdb\u75c7\u306b\u304a\u3051\u308b\u7db2\u819c\u5909\u6027\u75c7\u3001\u4fee\u98fe\u56e0\u5b50<\/td><td>AR<\/td><\/tr><tr><td>RUBCN<\/td><td>\u810a\u9ac4\u5c0f\u8133\u5931\u8abf\u75c7<\/td><td>AR<\/td><\/tr><tr><td>SACS<\/td><td>\u75d9\u6027\u904b\u52d5\u5931\u8abf\u3001\u30b7\u30e3\u30eb\u30eb\u30dc\u30ef\u30fb\u30b5\u30b0\u30cd<\/td><td>AR<\/td><\/tr><tr><td>SAMD9L<\/td><td>\u904b\u52d5\u5931\u8abf\u30fb\u6c4e\u8840\u7403\u6e1b\u5c11\u75c7\u5019\u7fa4<\/td><td>AD<\/td><\/tr><tr><td>SCYL1<\/td><td>\u810a\u9ac4\u5c0f\u8133\u5931\u8abf\u75c7\u3001\u5e38\u67d3\u8272\u4f53\u52a3\u6027\u907a\u4f1d 21<\/td><td>AR<\/td><\/tr><tr><td>SERAC1<\/td><td>\u96e3\u8074\u3001\u8133\u75c7\u3001\u30ea\u30fc\u69d8\u75c7\u5019\u7fa4\u3092\u4f34\u3046 3-\u30e1\u30c1\u30eb\u30b0\u30eb\u30bf\u30b3\u30f3\u9178\u5c3f\u75c7<\/td><td>AR<\/td><\/tr><tr><td>SETX<\/td><td>\u52d5\u773c\u904b\u52d5\u5931\u884c\u3092\u4f34\u3046\u904b\u52d5\u5931\u8abf\u3001\u7b4b\u840e\u7e2e\u6027\u5074\u7d22\u786c\u5316\u75c7\u3001\u82e5\u5e74\u6027\u3001\u810a\u9ac4\u5c0f\u8133\u5931\u8abf\u75c7<\/td><td>AD\/AR<\/td><\/tr><tr><td>SH3TC2<\/td><td>\u6b63\u4e2d\u795e\u7d4c\u306e\u5358\u795e\u7d4c\u969c\u5bb3\u3001\u30b7\u30e3\u30eb\u30b3\u30fc\u30fb\u30de\u30ea\u30fc\u30fb\u30c8\u30a5\u30fc\u30b9\u75c5<\/td><td>AR<\/td><\/tr><tr><td>SIL1<\/td><td>\u30de\u30ea\u30cd\u30b9\u30b3\u30fb\u30b7\u30a7\u30fc\u30b0\u30ec\u30f3\u75c7\u5019\u7fa4<\/td><td>AR<\/td><\/tr><tr><td>SLC17A5<\/td><td>\u30b7\u30a2\u30eb\u5c3f\u75c7\u3001\u30d5\u30a3\u30f3\u30e9\u30f3\u30c9\uff08\u30b5\u30e9\u75c5\uff09\u3001\u4e73\u5150\u30b7\u30a2\u30eb\u9178\u8caf\u8535\u969c\u5bb3<\/td><td>AR<\/td><\/tr><tr><td>SLC1A3<\/td><td>\u767a\u4f5c\u6027\u904b\u52d5\u5931\u8abf\u75c7<\/td><td>AD<\/td><\/tr><tr><td>SLC20A2<\/td><td>\u5927\u8133\u57fa\u5e95\u6838\u77f3\u7070\u5316\u3001\u7279\u767a\u6027\u30011<\/td><td>AD<\/td><\/tr><tr><td>SLC25A15<\/td><td>\u9ad8\u30aa\u30eb\u30cb\u30c1\u30f3\u8840\u75c7\u30fb\u9ad8\u30a2\u30f3\u30e2\u30cb\u30a2\u8840\u75c7\u30fb\u30db\u30e2\u30b7\u30c8\u30eb\u30ea\u30f3\u8840\u75c7\u75c7\u5019\u7fa4<\/td><td>AR<\/td><\/tr><tr><td>SLC25A46<\/td><td>\u795e\u7d4c\u969c\u5bb3\u3001\u907a\u4f1d\u6027\u306e\u904b\u52d5\u304a\u3088\u3073\u611f\u899a\u3001VIB \u578b<\/td><td>AR<\/td><\/tr><tr><td>SLC2A1<\/td><td>\u795e\u7d4c\u5b66\u7684\u6b20\u9665\u3092\u4f34\u3046\u30b9\u30c8\u30de\u30c1\u30f3\u6b20\u640d\u30af\u30e9\u30a4\u30aa\u30d2\u30c9\u30ed\u30b5\u30a4\u30c8\u30fc\u30b7\u30b9\u3001\u3066\u3093\u304b\u3093\u3001\u7279\u767a\u6027\u5168\u8eab\u6027\u3001GLUT1\u6b20\u4e4f\u75c7\u5019\u7fa4<\/td><td>AD\/AR<\/td><\/tr><tr><td>SLC52A2<\/td><td>\u30d6\u30e9\u30a6\u30f3\u30fb\u30f4\u30a3\u30a2\u30ec\u30c3\u30c8\u30fb\u30f4\u30a1\u30f3\u30fb\u30e9\u30fc\u30ec\u75c7\u5019\u7fa4<\/td><td>AR<\/td><\/tr><tr><td>SLC9A1<\/td><td>\u810a\u9ac4\u5c0f\u8133\u5931\u8abf\u75c7\u3001\u5e38\u67d3\u8272\u4f53\u52a3\u602719\u578b\uff08\u30ea\u30d2\u30c6\u30f3\u30b7\u30e5\u30bf\u30a4\u30f3\u30fb\u30af\u30ce\u30fc\u30eb\u75c7\u5019\u7fa4\uff09<\/td><td>AR<\/td><\/tr><tr><td>SLC9A6<\/td><td>\u7cbe\u795e\u8584\u5f31\u3001\u75c7\u5019\u7fa4\u3001\u30af\u30ea\u30b9\u30c1\u30e3\u30f3\u30bd\u30f3<\/td><td>XL<\/td><\/tr><tr><td>SNX14<\/td><td>\u810a\u9ac4\u5c0f\u8133\u5931\u8abf\u75c7<\/td><td>AR<\/td><\/tr><tr><td>SPG11<\/td><td>\u75d9\u6027\u5bfe\u9ebb\u75fa\u3001\u7b4b\u840e\u7e2e\u6027\u5074\u7d22\u786c\u5316\u75c7\u3001\u30b7\u30e3\u30eb\u30b3\u30fc\u30fb\u30de\u30ea\u30fc\u30fb\u30c8\u30a5\u30fc\u30b9\u75c5<\/td><td>AR<\/td><\/tr><tr><td>SPG20<\/td><td>\u75d9\u6027\u5bfe\u9ebb\u75fa\uff08\u30c8\u30ed\u30a4\u30e4\u30fc\u75c7\u5019\u7fa4\uff09<\/td><td>AR<\/td><\/tr><tr><td>SPG7<\/td><td>\u75d9\u6027\u5bfe\u9ebb\u75fa<\/td><td>AR<\/td><\/tr><tr><td>SPTBN2<\/td><td>\u810a\u9ac4\u5c0f\u8133\u5931\u8abf\u75c7<\/td><td>AD\/AR<\/td><\/tr><tr><td>SQSTM1<\/td><td>\u9aa8\u30d1\u30b8\u30a7\u30c3\u30c8\u75c5\u3001\u524d\u982d\u5074\u982d\u578b\u8a8d\u77e5\u75c7\u304a\u3088\u3073\/\u307e\u305f\u306f\u7b4b\u840e\u7e2e\u6027\u5074\u7d22\u786c\u5316\u75c7 3\u3001\u30df\u30aa\u30d1\u30c1\u30fc\u3001\u9060\u4f4d\u3001\u7e01\u306e\u3042\u308b\u7a7a\u80de\u3092\u4f34\u3046\u3001\u904b\u52d5\u5931\u8abf\u3001\u30b8\u30b9\u30c8\u30cb\u30a2\u3001\u304a\u3088\u3073\u8996\u7dda\u9ebb\u75fa\u3092\u4f34\u3046\u795e\u7d4c\u5909\u6027\u3001\u5c0f\u5150\u671f\u767a\u75c7<\/td><td>AD\/AR<\/td><\/tr><tr><td>STUB1<\/td><td>\u810a\u9ac4\u5c0f\u8133\u5931\u8abf\u75c7<\/td><td>AD\/AR<\/td><\/tr><tr><td>STXBP1<\/td><td>\u3066\u3093\u304b\u3093\u6027\u8133\u75c7\u3001\u4e73\u5150\u671f\u521d\u671f<\/td><td>AD<\/td><\/tr><tr><td>SUOX<\/td><td>\u30b9\u30eb\u30db\u30b7\u30b9\u30c6\u30a4\u30f3\u5c3f\u75c7<\/td><td>AR<\/td><\/tr><tr><td>SYNE1<\/td><td>\u810a\u9ac4\u5c0f\u8133\u5931\u8abf\u75c7\u3001\u5e38\u67d3\u8272\u4f53\u52a3\u60278\u578b<\/td><td>AD\/AR<\/td><\/tr><tr><td>SYT14<\/td><td>\u810a\u9ac4\u5c0f\u8133\u5931\u8abf\u75c7<\/td><td>AR<\/td><\/tr><tr><td>TCTN1<\/td><td>\u30b8\u30e5\u30d9\u30fc\u30eb\u75c7\u5019\u7fa4<\/td><td>AR<\/td><\/tr><tr><td>TCTN2<\/td><td>\u30b8\u30e5\u30d9\u30fc\u30eb\u75c7\u5019\u7fa4\u3001\u30e1\u30c3\u30b1\u30eb\u75c7\u5019\u7fa4<\/td><td>AR<\/td><\/tr><tr><td>TCTN3<\/td><td>\u53e3\u8154\u6307\u75c7\u5019\u7fa4\uff08\u30e2\u30fc\u30eb\u30fb\u30de\u30b8\u30e5\u30fc\u30b9\u30ad\u30fc\u75c7\u5019\u7fa4\uff09\u3001\u30b8\u30e5\u30d9\u30fc\u30eb\u75c7\u5019\u7fa4<\/td><td>AR<\/td><\/tr><tr><td>TDP1<\/td><td>\u8ef8\u7d22\u795e\u7d4c\u969c\u5bb3\u3092\u4f34\u3046\u810a\u9ac4\u5c0f\u8133\u5931\u8abf\u75c7<\/td><td>AR<\/td><\/tr><tr><td>TDP2<\/td><td>\u810a\u9ac4\u5c0f\u8133\u5931\u8abf\u75c7\u3001\u5e38\u67d3\u8272\u4f53\u52a3\u6027\u907a\u4f1d 23<\/td><td><\/td><\/tr><tr><td>TGM6<\/td><td>\u810a\u9ac4\u5c0f\u8133\u5931\u8abf\u75c7<\/td><td>AD<\/td><\/tr><tr><td>TMEM138<\/td><td>\u30b8\u30e5\u30d9\u30fc\u30eb\u75c7\u5019\u7fa4<\/td><td>AR<\/td><\/tr><tr><td>TMEM216<\/td><td>\u30b8\u30e5\u30d9\u30fc\u30eb\u75c7\u5019\u7fa4\u3001\u30e1\u30c3\u30b1\u30eb\u75c7\u5019\u7fa4<\/td><td>AR<\/td><\/tr><tr><td>TMEM231<\/td><td>\u30b8\u30e5\u30d9\u30fc\u30eb\u75c7\u5019\u7fa4\u3001\u30e1\u30c3\u30b1\u30eb\u75c7\u5019\u7fa4<\/td><td>AR<\/td><\/tr><tr><td>TMEM237<\/td><td>\u30b8\u30e5\u30d9\u30fc\u30eb\u75c7\u5019\u7fa4<\/td><td>AR<\/td><\/tr><tr><td>TMEM240<\/td><td>\u810a\u9ac4\u5c0f\u8133\u5931\u8abf\u75c7<\/td><td>AD<\/td><\/tr><tr><td>TMEM67<\/td><td>\u814e\u76c2\u708e\u3001COACH\u75c7\u5019\u7fa4\u3001\u30b8\u30e5\u30d9\u30fc\u30eb\u75c7\u5019\u7fa4\u3001\u30e1\u30c3\u30b1\u30eb\u75c7\u5019\u7fa4<\/td><td>AR<\/td><\/tr><tr><td>TPP1<\/td><td>\u810a\u9ac4\u5c0f\u8133\u5931\u8abf\u75c7\u3001\u795e\u7d4c\u30bb\u30ed\u30a4\u30c9\u30ea\u30dd\u30d5\u30b9\u30c1\u30f3\u75c72\u578b<\/td><td>AR<\/td><\/tr><tr><td>TRAPPC11<\/td><td>\u56db\u80a2\u5e2f\u578b\u7b4b\u30b8\u30b9\u30c8\u30ed\u30d5\u30a3\u30fc<\/td><td>AR<\/td><\/tr><tr><td>TRIM32<\/td><td>\u30d0\u30eb\u30c7\u30fb\u30d3\u30fc\u30c9\u30eb\u75c7\u5019\u7fa4\u3001\u7b4b\u30b8\u30b9\u30c8\u30ed\u30d5\u30a3\u30fc\u3001\u56db\u80a2\u5e2f<\/td><td>AR<\/td><\/tr><tr><td>TTBK2<\/td><td>\u810a\u9ac4\u5c0f\u8133\u5931\u8abf\u75c7<\/td><td>AD<\/td><\/tr><tr><td>TTC19<\/td><td>\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2\u8907\u5408\u4f53III\u6b20\u640d\u75c7\u3001\u6838\u30bf\u30a4\u30d72<\/td><td>AR<\/td><\/tr><tr><td>TTC8<\/td><td>\u30d0\u30eb\u30c7\u30fb\u30d3\u30fc\u30c9\u30eb\u75c7\u5019\u7fa4\u3001\u7db2\u819c\u8272\u7d20\u5909\u6027\u75c7<\/td><td>AR<\/td><\/tr><tr><td>TTPA<\/td><td>\u5b64\u7acb\u3057\u305f\u30d3\u30bf\u30df\u30f3E\u6b20\u4e4f\u75c7\u3092\u4f34\u3046\u904b\u52d5\u5931\u8abf<\/td><td>AR<\/td><\/tr><tr><td>TUBB4A<\/td><td>\u767d\u8cea\u30b8\u30b9\u30c8\u30ed\u30d5\u30a3\u30fc\u3001\u9ac4\u9798\u5f62\u6210\u4e0d\u5168\u3001\u30b8\u30b9\u30c8\u30cb\u30a2<\/td><td>AD<\/td><\/tr><tr><td>UBA5<\/td><td>\u3066\u3093\u304b\u3093\u6027\u8133\u75c7\u3001\u4e73\u5150\u671f\u65e9\u671f\u300144 \u540d\u3001\u810a\u9ac4\u5c0f\u8133\u5931\u8abf\u75c7\u3001\u5e38\u67d3\u8272\u4f53\u52a3\u6027\u907a\u4f1d 24 \u540d<\/td><td>AR<\/td><\/tr><tr><td>UBTF<\/td><td>\u795e\u7d4c\u5909\u6027\u3001\u5c0f\u5150\u671f\u767a\u75c7\u3001\u8133\u840e\u7e2e\u3092\u4f34\u3046<\/td><td>AD<\/td><\/tr><tr><td>UCHL1<\/td><td>\u30d1\u30fc\u30ad\u30f3\u30bd\u30f3\u75c5 5\u3001\u5e38\u67d3\u8272\u4f53\u512a\u6027\u907a\u4f1d\u3001\u75d9\u6027\u5bfe\u9ebb\u75fa 79\u3001\u5e38\u67d3\u8272\u4f53\u52a3\u6027\u907a\u4f1d<\/td><td>AD\/AR<\/td><\/tr><tr><td>VAMP1<\/td><td>\u75d9\u6027\u904b\u52d5\u5931\u8abf\u75c7<\/td><td>AD<\/td><\/tr><tr><td>VLDLR<\/td><td>\u5c0f\u8133\u5931\u8abf\u75c7\u3001\u7cbe\u795e\u9045\u6ede\u3001\u5e73\u8861\u969c\u5bb3\u75c7\u5019\u7fa4<\/td><td>AR<\/td><\/tr><tr><td>VPS13D<\/td><td>\u810a\u9ac4\u5c0f\u8133\u5931\u8abf\u75c7<\/td><td>AR<\/td><\/tr><tr><td>VWA3B<\/td><td>\u810a\u9ac4\u5c0f\u8133\u5931\u8abf\u75c7\u3001\u5e38\u67d3\u8272\u4f53\u52a3\u6027\u907a\u4f1d 22<\/td><td><\/td><\/tr><tr><td>WDPCP<\/td><td>\u30e1\u30c3\u30b1\u30eb\u30fb\u30b0\u30eb\u30fc\u30d0\u30fc\u75c7\u5019\u7fa4\u3001\u4fee\u98fe\u56e0\u5b50\u3001\u30d0\u30eb\u30c7\u30fb\u30d3\u30fc\u30c9\u30eb\u75c7\u5019\u7fa4\u3001\u5148\u5929\u6027\u5fc3\u75be\u60a3\u3001\u820c\u904e\u8aa4\u816b\u3001\u591a\u5408\u6307\u75c7<\/td><td>AR<\/td><\/tr><tr><td>WDR81<\/td><td>\u7570\u5e38\u5e73\u8861\u75c7\u5019\u7fa4<\/td><td>AR<\/td><\/tr><tr><td>WFS1<\/td><td>\u30a6\u30a9\u30eb\u30d5\u30e9\u30e0\u75c7\u5019\u7fa4\u3001\u30a6\u30a9\u30eb\u30d5\u30e9\u30e0\u69d8\u75c7\u5019\u7fa4\u3001\u5e38\u67d3\u8272\u4f53\u512a\u6027\u3001\u96e3\u8074\u3001\u5e38\u67d3\u8272\u4f53\u512a\u6027 38\/6\/14\u3001\u767d\u5185\u969c 41<\/td><td>AD\/AR<\/td><\/tr><tr><td>WWOX<\/td><td>\u3066\u3093\u304b\u3093\u6027\u8133\u75c7\u3001\u4e73\u5150\u671f\u65e9\u671f\u3001\u810a\u9ac4\u5c0f\u8133\u5931\u8abf\u75c7<\/td><td>AR<\/td><\/tr><tr><td>XRCC1<\/td><td>\u810a\u9ac4\u5c0f\u8133\u5931\u8abf\u75c7\u3001\u5e38\u67d3\u8272\u4f53\u52a3\u6027\u907a\u4f1d\u300126<\/td><td><\/td><\/tr><tr><td>ZFYVE26<\/td><td>\u75d9\u6027\u5bfe\u9ebb\u75fa 15<\/td><td>AR<\/td><\/tr><tr><td>ZNF423<\/td><td>\u814e\u76c2\u708e\u3001\u30b8\u30e5\u30d9\u30fc\u30eb\u75c7\u5019\u7fa4<\/td><td>AD\/AR<\/td><\/tr><\/tbody><\/table><\/figure>\n<p>\u8a73\u3057\u304f\u306f <a href=\"https:\/\/www.hiro-clinic.or.jp\/gene\/clinic\/\">\u30d2\u30ed\u30af\u30ea\u30cb\u30c3\u30af\u5168\u56fd\u306e\u30af\u30ea\u30cb\u30c3\u30af\u4e00\u89a7<\/a> \u3092\u3054\u89a7\u304f\u3060\u3055\u3044\u3002<\/p>","protected":false},"featured_media":0,"template":"template-disease.php","disease-category":[3],"class_list":["post-199","disease","type-disease","status-publish","hentry","disease-category-mental"],"acf":[],"_links":{"self":[{"href":"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-json\/wp\/v2\/disease\/199","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-json\/wp\/v2\/disease"}],"about":[{"href":"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-json\/wp\/v2\/types\/disease"}],"version-history":[{"count":1,"href":"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-json\/wp\/v2\/disease\/199\/revisions"}],"predecessor-version":[{"id":200,"href":"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-json\/wp\/v2\/disease\/199\/revisions\/200"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-json\/wp\/v2\/media?parent=199"}],"wp:term":[{"taxonomy":"disease-category","embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-json\/wp\/v2\/disease-category?post=199"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}