{"id":191,"date":"2024-03-27T06:03:58","date_gmt":"2024-03-27T06:03:58","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/gene\/?post_type=disease&p=191"},"modified":"2024-03-27T06:04:14","modified_gmt":"2024-03-27T06:04:14","slug":"epilepsy","status":"publish","type":"disease","link":"https:\/\/www.hiro-clinic.or.jp\/gene\/disease\/epilepsy\/","title":{"rendered":"\u3066\u3093\u304b\u3093"},"content":{"rendered":"\n
Gene<\/td>\u95a2\u9023\u3059\u308b\u8868\u73fe\u578b<\/td>Inheritance<\/td><\/tr>
AARS<\/td>\u3066\u3093\u304b\u3093\u6027\u8133\u75c7\u3001\u4e73\u5150\u671f\u65e9\u671f\u3001\u30b7\u30e3\u30eb\u30b3\u30fc\u30fb\u30de\u30ea\u30fc\u30fb\u30c8\u30a5\u30fc\u30b9\u75c5<\/td>AD\/AR<\/td><\/tr>
ABAT<\/td>GABA\u30c8\u30e9\u30f3\u30b9\u30a2\u30df\u30ca\u30fc\u30bc\u6b20\u640d\u75c7<\/td>AR<\/td><\/tr>
ABCA2<\/td>\u77e5\u7684\u969c\u5bb3\u3068\u767a\u4f5c<\/td>AR<\/td><\/tr>
ABCD1<\/td>\u526f\u814e\u767d\u8cea\u30b8\u30b9\u30c8\u30ed\u30d5\u30a3\u30fc<\/td>XL<\/td><\/tr>
ACTL6B<\/td>\u3066\u3093\u304b\u3093\u6027\u8133\u75c7<\/td>AD\/AR<\/td><\/tr>
ACY1<\/td>\u30a2\u30df\u30ce\u30a2\u30b7\u30e9\u30fc\u30bc 1 \u6b20\u640d\u75c7<\/td>AR<\/td><\/tr>
ADAM22<\/td>\u65e9\u671f\u4e73\u5150\u3066\u3093\u304b\u3093\u6027\u8133\u75c7<\/td>AR<\/td><\/tr>
ADAR<\/td>\u907a\u4f1d\u6027\u5bfe\u79f0\u6027\u8272\u7d20\u7570\u5e38\u75c7\u3001\u30a2\u30a4\u30ab\u30eb\u30c7\u30a3\u30fb\u30b0\u30c6\u30a3\u30a8\u30fc\u30eb\u75c7\u5019\u7fa4<\/td>AD\/AR<\/td><\/tr>
ADNP<\/td>\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>AD<\/td><\/tr>
ADPRHL2<\/td>\u795e\u7d4c\u5909\u6027\u3001\u5c0f\u5150\u671f\u767a\u75c7\u3001\u8133\u840e\u7e2e\u3092\u4f34\u3046<\/td>AR<\/td><\/tr>
ADSL<\/td>\u30a2\u30c7\u30cb\u30ed\u30b9\u30af\u30b7\u30ca\u30fc\u30bc\u6b20\u640d\u75c7<\/td>AR<\/td><\/tr>
AFG3L2<\/td>\u75d9\u6027\u904b\u52d5\u5931\u8abf\u3001\u810a\u9ac4\u5c0f\u8133\u5931\u8abf\u75c7<\/td>AD\/AR<\/td><\/tr>
AGA<\/td>\u30a2\u30b9\u30d1\u30eb\u30c1\u30eb\u30b0\u30eb\u30b3\u30b5\u30df\u30f3\u5c3f<\/td>AR<\/td><\/tr>
AIFM1<\/td>\u96e3\u8074\u3001\u8907\u5408\u578b\u9178\u5316\u7684\u30ea\u30f3\u9178\u5316\u6b20\u640d\u75c76\u3001\u30ab\u30a6\u30c1\u30e7\u30c3\u30af\u75c7\u5019\u7fa4<\/td>XL<\/td><\/tr>
AIMP1<\/td>\u767d\u8cea\u30b8\u30b9\u30c8\u30ed\u30d5\u30a3\u30fc\u3001\u9ac4\u9798\u5f62\u6210\u4e0d\u5168<\/td>AR<\/td><\/tr>
ALDH3A2<\/td>\u30b7\u30a7\u30fc\u30b0\u30ec\u30f3\u30fb\u30e9\u30fc\u30b7\u30e7\u30f3\u75c7\u5019\u7fa4<\/td>AR<\/td><\/tr>
ALDH5A1<\/td>\u30b3\u30cf\u30af\u9178\u30bb\u30df\u30a2\u30eb\u30c7\u30d2\u30c9\u30c7\u30d2\u30c9\u30ed\u30b2\u30ca\u30fc\u30bc\u6b20\u640d\u75c7<\/td>AR<\/td><\/tr>
ALDH7A1<\/td>\u3066\u3093\u304b\u3093\u3001\u30d4\u30ea\u30c9\u30ad\u30b7\u30f3\u4f9d\u5b58\u6027<\/td>AR<\/td><\/tr>
ALG13<\/td>\u5148\u5929\u6027\u30b0\u30ea\u30b3\u30b7\u30eb\u5316\u969c\u5bb3<\/td>XL<\/td><\/tr>
ALG6<\/td>\u5148\u5929\u6027\u30b0\u30ea\u30b3\u30b7\u30eb\u5316\u969c\u5bb3<\/td>AR<\/td><\/tr>
ALKBH8<\/td>\u77e5\u7684\u969c\u5bb3\u3001\u5e38\u67d3\u8272\u4f53\u52a3\u6027\u907a\u4f1d<\/td>AR<\/td><\/tr>
AMACR<\/td>\u03b1-\u30e1\u30c1\u30eb\u30a2\u30b7\u30eb-CoA \u30e9\u30bb\u30de\u30fc\u30bc\u6b20\u640d\u75c7\u3001\u80c6\u6c41\u9178\u5408\u6210\u6b20\u640d\u75c7<\/td>AR<\/td><\/tr>
AMT<\/td>\u30b0\u30ea\u30b7\u30f3\u8133\u75c7<\/td>AR<\/td><\/tr>
ANKRD11<\/td>KBG\u75c7\u5019\u7fa4<\/td>AD<\/td><\/tr>
AP2M1<\/td>\u3066\u3093\u304b\u3093\u6027\u8133\u75c7<\/td>AD<\/td><\/tr>
AP3B2<\/td>\u3066\u3093\u304b\u3093\u6027\u8133\u75c7\u3001\u4e73\u5150\u65e9\u671f\u300148<\/td><\/td><\/tr>
AP4B1<\/td>\u75d9\u6027\u5bfe\u9ebb\u75fa 47\u3001\u5e38\u67d3\u8272\u4f53\u52a3\u6027\u907a\u4f1d<\/td>AR<\/td><\/tr>
AP4E1<\/td>\u5403\u97f3\u3001\u5bb6\u65cf\u6027\u6301\u7d9a\u6027\u30011\u3001\u75d9\u6027\u5bfe\u9ebb\u75fa 51\u3001\u5e38\u67d3\u8272\u4f53\u52a3\u6027<\/td>AD\/AR<\/td><\/tr>
AP4M1<\/td>\u75d9\u6027\u5bfe\u9ebb\u75fa 50\u3001\u5e38\u67d3\u8272\u4f53\u52a3\u6027\u907a\u4f1d<\/td>AR<\/td><\/tr>
AP4S1<\/td>\u75d9\u6027\u5bfe\u9ebb\u75fa 52\u3001\u5e38\u67d3\u8272\u4f53\u52a3\u6027\u907a\u4f1d<\/td>AR<\/td><\/tr>
APOPT1<\/td>\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2\u8907\u5408\u4f53IV\u6b20\u640d\u75c7<\/td>AR<\/td><\/tr>
ARG1<\/td>\u9ad8\u30a2\u30eb\u30ae\u30cb\u30f3\u8840\u75c7<\/td>AR<\/td><\/tr>
ARHGEF9<\/td>\u3066\u3093\u304b\u3093\u6027\u8133\u75c7\u3001\u4e73\u5150\u671f\u521d\u671f<\/td>XL<\/td><\/tr>
ARID1B<\/td>\u30b3\u30d5\u30a3\u30f3\u30fb\u30b7\u30fc\u30ea\u30b9\u75c7\u5019\u7fa4\u3001\u77e5\u7684\u767a\u9054\u969c\u5bb3<\/td>AD<\/td><\/tr>
ARSA<\/td>\u7570\u67d3\u6027\u767d\u8cea\u30b8\u30b9\u30c8\u30ed\u30d5\u30a3\u30fc<\/td>AR<\/td><\/tr>
ARV1<\/td>\u3066\u3093\u304b\u3093\u6027\u8133\u75c7\u3001\u4e73\u5150\u65e9\u671f\u300138<\/td><\/td><\/tr>
ARX<\/td>\u6ed1\u8133\u75c7\u3001\u3066\u3093\u304b\u3093\u6027\u8133\u75c7\u3001\u8133\u6881\u3001\u6027\u5668\u7570\u5e38\u3092\u4f34\u3046\u8133\u6881\u7121\u5f62\u6210\u3001\u30d1\u30fc\u30c8\u30f3\u30c8\u30f3\u75c7\u5019\u7fa4\u3001\u30d7\u30e9\u30a6\u30c9\u75c7\u5019\u7fa4\u3001\u6027\u5668\u7570\u5e38\u3092\u4f34\u3046\u6c34\u8133\u75c7\u3001\u77e5\u7684\u767a\u9054\u969c\u5bb3<\/td>XL<\/td><\/tr>
ASAH1<\/td>\u9032\u884c\u6027\u30df\u30aa\u30af\u30ed\u30cb\u30fc\u3066\u3093\u304b\u3093\u3092\u4f34\u3046\u810a\u9ac4\u6027\u7b4b\u840e\u7e2e\u75c7\u3001\u30d5\u30a1\u30fc\u30d0\u30fc\u8102\u80aa\u8089\u82bd\u816b\u75c7<\/td>AR<\/td><\/tr>
ASNS<\/td>\u30a2\u30b9\u30d1\u30e9\u30ae\u30f3\u5408\u6210\u9175\u7d20\u6b20\u640d\u75c7<\/td>AR<\/td><\/tr>
ASPA<\/td>\u30a2\u30b9\u30d1\u30eb\u30c8\u30a2\u30b7\u30e9\u30fc\u30bc\u6b20\u640d\u75c7\uff08\u30ab\u30ca\u30d0\u30f3\u75c5\uff09<\/td>AR<\/td><\/tr>
ASXL3<\/td>\u30d9\u30a4\u30f3\u30d6\u30ea\u30c3\u30b8\u30fb\u30ed\u30fc\u30d1\u30fc\u30ba\u75c7\u5019\u7fa4<\/td>AD<\/td><\/tr>
ATAD1<\/td><\/td><\/td><\/tr>
ATP13A2<\/td>\u30d1\u30fc\u30ad\u30f3\u30bd\u30f3\u75c5\uff08\u30af\u30d5\u30a9\u30fc\u30fb\u30e9\u30b1\u30d6\u75c7\u5019\u7fa4\uff09<\/td>AR<\/td><\/tr>
ATP1A1<\/td>\u30b7\u30e3\u30eb\u30b3\u30fc\u30fb\u30de\u30ea\u30fc\u30fb\u30c8\u30a5\u30fc\u30b9\u75c5<\/td>AD<\/td><\/tr>
ATP1A2<\/td>\u7247\u982d\u75db\u3001\u5bb6\u65cf\u6027\u7247\u9ebb\u75fa\u3001\u5c0f\u5150\u4ea4\u4e92\u6027\u7247\u9ebb\u75fa\u3001\u7247\u982d\u75db\u3001\u5bb6\u65cf\u6027\u7247\u9ebb\u75fa\u30012\u3001\u7247\u982d\u75db\u3001\u5bb6\u65cf\u6027\u8133\u5e95\u9ebb\u75fa<\/td>AD\/AR<\/td><\/tr>
ATP1A3<\/td>\u5c0f\u5150\u671f\u306e\u4ea4\u4e92\u6027\u7247\u9ebb\u75fa\u3001\u30b8\u30b9\u30c8\u30cb\u30a2 12<\/td>AD<\/td><\/tr>
ATP6V1A<\/td>\u76ae\u819a\u5f1b\u7de9\u75c7\u3001\u5e38\u67d3\u8272\u4f53\u52a3\u6027\u907a\u4f1d\u3001IID\u578b\u3001\u3066\u3093\u304b\u3093\u6027\u8133\u75c7<\/td>AD\/AR<\/td><\/tr>
ATRX<\/td>\u30ab\u30fc\u30da\u30f3\u30bf\u30fc\u30fb\u30ef\u30b8\u30ea\u75c7\u5019\u7fa4\u3001\u30a2\u30eb\u30d5\u30a1\u30b5\u30e9\u30bb\u30df\u30a2\/\u7cbe\u795e\u9045\u6ede\u75c7\u5019\u7fa4\u3001\u30db\u30fc\u30e0\u30ba\u30fb\u30ae\u30e3\u30f3\u30b0\u75c7\u5019\u7fa4\u3001\u30e6\u30d0\u30fc\u30b0\u30fb\u30de\u30eb\u30b7\u30c7\u30a3\u75c7\u5019\u7fa4\u3001\u30b9\u30df\u30b9\u30fb\u30d5\u30a1\u30a4\u30f3\u30de\u30f3\u30fb\u30de\u30a4\u30e4\u30fc\u30ba\u75c7\u5019\u7fa4\u3001\u7cbe\u795e\u9045\u6ede\u30fb\u4f4e\u7dca\u5f35\u9854\u75c7\u5019\u7fa4<\/td>XL<\/td><\/tr>
BCKDK<\/td>\u5206\u5c90\u9396\u30b1\u30c8\u9178\u30c7\u30d2\u30c9\u30ed\u30b2\u30ca\u30fc\u30bc\u30ad\u30ca\u30fc\u30bc\u6b20\u640d\u75c7<\/td>AR<\/td><\/tr>
BRAT1<\/td>\u56fa\u7e2e\u3068\u591a\u5de3\u6027\u767a\u4f5c\u75c7\u5019\u7fa4\u3001\u81f4\u6b7b\u7684\u306a\u65b0\u751f\u5150<\/td>AR<\/td><\/tr>
BTD<\/td>\u30d3\u30aa\u30c1\u30cb\u30c0\u30fc\u30bc\u6b20\u640d\u75c7<\/td>AR<\/td><\/tr>
C12ORF57<\/td>\u8133\u6881\u4f4e\u5f62\u6210\u3001\u52a3\u6027\u3001\u30c6\u30e0\u30bf\u30df\u30fc\u75c7\u5019\u7fa4<\/td>AR<\/td><\/tr>
CACNA1A<\/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>AD<\/td><\/tr>
CACNA1B<\/td>\u30b8\u30b9\u30c8\u30cb\u30a2 23\u3001\u65e9\u671f\u4e73\u5150\u3066\u3093\u304b\u3093\u6027\u8133\u75c7<\/td>AD\/AR<\/td><\/tr>
CACNA1D<\/td>\u539f\u767a\u6027\u30a2\u30eb\u30c9\u30b9\u30c6\u30ed\u30f3\u75c7\u3001\u767a\u4f5c\u3001\u795e\u7d4c\u5b66\u7684\u7570\u5e38\u3001\u6d1e\u623f\u7d50\u7bc0\u306e\u6a5f\u80fd\u4e0d\u5168\u3001\u96e3\u8074<\/td>AD\/AR<\/td><\/tr>
CACNA1E<\/td>\u3066\u3093\u304b\u3093\u6027\u8133\u75c7<\/td>AD<\/td><\/tr>
CACNA1G<\/td>\u810a\u9ac4\u5c0f\u8133\u5931\u8abf\u75c7 42<\/td><\/td><\/tr>
CACNA1H<\/td>\u5c0f\u5150\u6b20\u795e\u3066\u3093\u304b\u3093<\/td>AD<\/td><\/tr>
CACNA2D2<\/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>AR<\/td><\/tr>
CACNB4<\/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>AD<\/td><\/tr>
CAD<\/td>\u3066\u3093\u304b\u3093\u6027\u8133\u75c7\u3001\u4e73\u5150\u65e9\u671f\u300150\u6b73\uff08\u5148\u5929\u6027\u30b0\u30ea\u30b3\u30b7\u30eb\u5316\u969c\u5bb3\u3001Iz\u578b\uff09<\/td>AR<\/td><\/tr>
CAMK2B<\/td>\u795e\u7d4c\u767a\u9054\u969c\u5bb3<\/td><\/td><\/tr>
CARS2<\/td>\u8907\u5408\u9178\u5316\u7684\u30ea\u30f3\u9178\u5316\u6b20\u640d\u75c7 27<\/td>AR<\/td><\/tr>
CASK<\/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>XL<\/td><\/tr>
CASR<\/td>\u4f4e\u30ab\u30eb\u30b7\u30a6\u30e0\u8840\u75c7\u3001\u65b0\u751f\u5150\u526f\u7532\u72b6\u817a\u6a5f\u80fd\u4ea2\u9032\u75c7\u3001\u4e00\u904e\u6027\u65b0\u751f\u5150\u526f\u7532\u72b6\u817a\u6a5f\u80fd\u4ea2\u9032\u75c7\u3092\u4f34\u3046\u5bb6\u65cf\u6027\u4f4e\u30ab\u30eb\u30b7\u30a6\u30e0\u8840\u75c7\u6027\u9ad8\u30ab\u30eb\u30b7\u30a6\u30e0\u8840\u75c7<\/td>AD\/AR<\/td><\/tr>
CC2D1A<\/td>\u7cbe\u795e\u9045\u6ede\u3001\u5e38\u67d3\u8272\u4f53\u52a3\u6027\u907a\u4f1d 3<\/td>AR<\/td><\/tr>
CDK9<\/td><\/td>AR<\/td><\/tr>
CDKL5<\/td>\u3066\u3093\u304b\u3093\u6027\u8133\u75c7\u3001\u4e73\u5150\u671f\u65e9\u671f\u3001\u30ec\u30c3\u30c8\u75c7\u5019\u7fa4\u3001\u975e\u5b9a\u578b\u3001\u30a2\u30f3\u30b8\u30a7\u30eb\u30de\u30f3\u69d8\u75c7\u5019\u7fa4<\/td>XL<\/td><\/tr>
CERS1<\/td>\u3066\u3093\u304b\u3093\u3001\u9032\u884c\u6027\u30df\u30aa\u30af\u30ed\u30cb\u30fc<\/td>AR<\/td><\/tr>
CHD2<\/td>\u3066\u3093\u304b\u3093\u6027\u8133\u75c7\u3001\u5c0f\u5150\u671f\u767a\u75c7<\/td>AD<\/td><\/tr>
CHRNA2<\/td>\u3066\u3093\u304b\u3093\u3001\u591c\u9593\u524d\u982d\u8449<\/td>AD<\/td><\/tr>
CHRNA4<\/td>\u3066\u3093\u304b\u3093\u3001\u591c\u9593\u524d\u982d\u8449<\/td>AD<\/td><\/tr>
CHRNB2<\/td>\u3066\u3093\u304b\u3093\u3001\u591c\u9593\u524d\u982d\u8449<\/td>AD<\/td><\/tr>
CLCN2<\/td>\u904b\u52d5\u5931\u8abf\u3092\u4f34\u3046\u767d\u8cea\u8133\u75c7\u3001\u3066\u3093\u304b\u3093<\/td>AD\/AR<\/td><\/tr>
CLCN4<\/td>\u7cbe\u795e\u9045\u6ede\u3001X\u9023\u9396 49<\/td>XL<\/td><\/tr>
CLN3<\/td>\u795e\u7d4c\u30bb\u30ed\u30a4\u30c9\u30ea\u30dd\u30d5\u30b9\u30c1\u30f3\u75c7\u3001\u30bf\u30a4\u30d7 3<\/td>AR<\/td><\/tr>
CLN5<\/td>\u795e\u7d4c\u30bb\u30ed\u30a4\u30c9 \u30ea\u30dd\u30d5\u30b9\u30c1\u30f3\u75c7\u30015 \u578b<\/td>AR<\/td><\/tr>
CLN6<\/td>\u795e\u7d4c\u30bb\u30ed\u30a4\u30c9 \u30ea\u30dd\u30d5\u30b9\u30c1\u30f3\u75c7\u30016 \u578b<\/td>AR<\/td><\/tr>
CLN8<\/td>\u795e\u7d4c\u30bb\u30ed\u30a4\u30c9 \u30ea\u30dd\u30d5\u30b9\u30c1\u30f3\u75c7\u30018 \u578b<\/td>AR<\/td><\/tr>
CLTC<\/td><\/td>AD<\/td><\/tr>
CNKSR2<\/td>\u3066\u3093\u304b\u3093\u6027\u8133\u75c7\u3001X \u9023\u9396\u6027\u7cbe\u795e\u9045\u6ede\u3001\u3066\u3093\u304b\u3093\u304a\u3088\u3073 X \u9023\u9396\u6027\u7cbe\u795e\u9045\u6ede<\/td>XL<\/td><\/tr>
CNPY3<\/td>\u3066\u3093\u304b\u3093\u6027\u8133\u75c7<\/td>AR<\/td><\/tr>
CNTNAP2<\/td>\u30d4\u30c3\u30c8\u30fb\u30db\u30d7\u30ad\u30f3\u30b9\u69d8\u75c7\u5019\u7fa4\u3001\u76ae\u8cea\u7570\u5f62\u6210\u30fb\u5c40\u6240\u3066\u3093\u304b\u3093\u75c7\u5019\u7fa4<\/td>AR<\/td><\/tr>
COA7<\/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>AR<\/td><\/tr>
COL4A1<\/td>\u7d71\u5408\u8133\u75c7\u3001\u8133\u306e\u95a2\u4e0e\u3092\u4f34\u3046\u524d\u773c\u90e8\u767a\u80b2\u4e0d\u5168\u3001\u7db2\u819c\u52d5\u8108\u306d\u3058\u308c\u3001\u5b54\u8133\u75c7\u3001\u814e\u75c7\u3001\u52d5\u8108\u7624\u3001\u7b4b\u3051\u3044\u308c\u3093\u3092\u4f34\u3046\u907a\u4f1d\u6027\u306e\u8840\u7ba1\u969c\u5bb3\u3001\u8133\u5c0f\u8840\u7ba1\u75be\u60a3<\/td>AD<\/td><\/tr>
COL4A2<\/td>\u51fa\u8840\u3001\u8133\u5185\u51fa\u8840<\/td>AD<\/td><\/tr>
COL4A3BP<\/td>\u7cbe\u795e\u9045\u6ede\u3001\u5e38\u67d3\u8272\u4f53\u512a\u6027\u907a\u4f1d 34<\/td>AD<\/td><\/tr>
COQ2<\/td>\u30b3\u30a8\u30f3\u30b6\u30a4\u30e0Q10\u6b20\u4e4f\u75c7<\/td>AR<\/td><\/tr>
COQ4<\/td>\u30b3\u30a8\u30f3\u30b6\u30a4\u30e0Q10\u6b20\u4e4f\u75c7 7<\/td>AR<\/td><\/tr>
COX15<\/td>\u30ea\u30fc\u75c7\u5019\u7fa4\u3001\u5fc3\u8133\u7b4b\u75c7\u3001\u30c1\u30c8\u30af\u30ed\u30e0C\u30aa\u30ad\u30b7\u30c0\u30fc\u30bc\u6b20\u640d\u306b\u3088\u308b\u4e73\u5150\u6b7b\u4ea1<\/td>AR<\/td><\/tr>
COX6B1<\/td>\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2\u8907\u5408\u4f53IV\u6b20\u640d\u75c7<\/td>AR<\/td><\/tr>
CPLX1<\/td><\/td><\/td><\/tr>
CPT2<\/td>\u30ab\u30eb\u30cb\u30c1\u30f3\u30d1\u30eb\u30df\u30c8\u30a4\u30eb\u30c8\u30e9\u30f3\u30b9\u30d5\u30a7\u30e9\u30fc\u30bc II \u6b20\u640d\u75c7<\/td>AR<\/td><\/tr>
CSF1R<\/td>\u767d\u8cea\u8133\u75c7\u3001\u3073\u307e\u3093\u6027\u907a\u4f1d\u6027\u3001\u56de\u8ee2\u6955\u5186\u4f53\u3092\u4f34\u3046<\/td>AD<\/td><\/tr>
CSNK2B<\/td>\u77e5\u7684\u969c\u5bb3\u3068\u767a\u4f5c<\/td>AD<\/td><\/tr>
CSTB<\/td>\u3066\u3093\u304b\u3093\u3001\u9032\u884c\u6027\u30df\u30aa\u30af\u30ed\u30cb\u30fc<\/td>AR<\/td><\/tr>
CTC1<\/td>\u77f3\u7070\u5316\u304a\u3088\u3073\u56a2\u80de\u3092\u4f34\u3046\u8133\u7db2\u819c\u5fae\u5c0f\u8840\u7ba1\u75c7<\/td>AR<\/td><\/tr>
CTSD<\/td>\u30bb\u30ed\u30a4\u30c9\u30ea\u30dd\u30d5\u30b9\u30c1\u30f3\u75c7\u3001\u795e\u7d4c\u6027<\/td>AR<\/td><\/tr>
CTSF<\/td>\u795e\u7d4c\u30bb\u30ed\u30a4\u30c9\u30ea\u30dd\u30d5\u30b9\u30c1\u30f3\u75c7<\/td>AR<\/td><\/tr>
CUL4B<\/td>\u7cbe\u795e\u9045\u6ede\u3001\u75c7\u5019\u7fa4\u3001\u30ab\u30d9\u30b6\u30b9<\/td>XL<\/td><\/tr>
CUX2<\/td><\/td><\/td><\/tr>
CYFIP2<\/td>\u65e9\u671f\u4e73\u5150\u3066\u3093\u304b\u3093\u6027\u8133\u75c7\u3001\u3066\u3093\u304b\u3093<\/td>AD<\/td><\/tr>
CYP27A1<\/td>\u8133\u8171\u6027\u9ec4\u8272\u816b\u75c7<\/td>AR<\/td><\/tr>
D2HGDH<\/td>D-2-\u30d2\u30c9\u30ed\u30ad\u30b7\u30b0\u30eb\u30bf\u30eb\u9178\u5c3f\u75c7 1<\/td>AR<\/td><\/tr>
DARS<\/td>\u8133\u5e79\u304a\u3088\u3073\u810a\u9ac4\u306e\u95a2\u4e0e\u3092\u4f34\u3046\u9ac4\u9798\u5f62\u6210\u4e0d\u5168\u304a\u3088\u3073\u811a\u306e\u75d9\u7e2e<\/td>AR<\/td><\/tr>
DARS2<\/td>\u8133\u5e79\u304a\u3088\u3073\u810a\u9ac4\u306e\u95a2\u4e0e\u304a\u3088\u3073\u4e73\u9178\u5024\u306e\u4e0a\u6607\u3092\u4f34\u3046\u767d\u8cea\u8133\u75c7<\/td>AR<\/td><\/tr>
DCX<\/td>\u6ed1\u8133\u75c7\u3001\u76ae\u8cea\u4e0b\u5c64\u7570\u6240\u8996<\/td>XL<\/td><\/tr>
DDC<\/td>\u82b3\u9999\u65cfL-\u30a2\u30df\u30ce\u9178\u30c7\u30ab\u30eb\u30dc\u30ad\u30b7\u30e9\u30fc\u30bc\u6b20\u640d\u75c7<\/td>AR<\/td><\/tr>
DDX3X<\/td>\u7cbe\u795e\u8584\u5f31\u3001X \u9023\u9396 102<\/td>XL<\/td><\/tr>
DEAF1<\/td>\u7cbe\u795e\u9045\u6ede\u3001\u5e38\u67d3\u8272\u4f53\u512a\u602724\u578b\u3001\u30b8\u30b9\u30ad\u30cd\u30b8\u30a2\u3001\u767a\u4f5c\u3001\u77e5\u7684\u767a\u9054\u969c\u5bb3<\/td>AD<\/td><\/tr>
DEGS1<\/td>\u767d\u8cea\u30b8\u30b9\u30c8\u30ed\u30d5\u30a3\u30fc\u3001\u9ac4\u9798\u5f62\u6210\u4e0d\u5168<\/td>AR<\/td><\/tr>
DENND5A<\/td>\u3066\u3093\u304b\u3093\u6027\u8133\u75c7\u3001\u4e73\u5150\u65e9\u671f\u300149<\/td>AR<\/td><\/tr>
DEPDC5<\/td>\u3066\u3093\u304b\u3093\u3001\u5bb6\u65cf\u6027\u7126\u70b9\u3001\u53ef\u5909\u7126\u70b9<\/td>AD<\/td><\/tr>
DHDDS<\/td>\u7db2\u819c\u8272\u7d20\u5909\u6027\u75c7\u3001\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<\/td>AD\/AR<\/td><\/tr>
DHFR<\/td>\u30b8\u30d2\u30c9\u30ed\u8449\u9178\u9084\u5143\u9175\u7d20\u6b20\u640d\u75c7\u306b\u3088\u308b\u5de8\u8d64\u82bd\u7403\u6027\u8ca7\u8840<\/td>AR<\/td><\/tr>
DHPS<\/td><\/td>AR<\/td><\/tr>
DIAPH1<\/td>\u767a\u4f5c\u3001\u76ae\u8cea\u5931\u660e\u3001\u5c0f\u982d\u75c7\u75c7\u5019\u7fa4\uff08SCBMS\uff09\u3001\u96e3\u8074\u3001\u5e38\u67d3\u8272\u4f53\u512a\u60271<\/td>AD\/AR<\/td><\/tr>
DMXL2<\/td>\u96e3\u8074\u3001\u5e38\u67d3\u8272\u4f53\u512a\u6027\u907a\u4f1d\u300171\u3001\u591a\u5185\u5206\u6ccc\u591a\u767a\u795e\u7d4c\u969c\u5bb3\u75c7\u5019\u7fa4\u3001\u3066\u3093\u304b\u3093\u6027\u8133\u75c7\u3001\u4e73\u5150\u671f\u65e9\u671f<\/td>AD\/AR<\/td><\/tr>
DNAJC5<\/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>AD<\/td><\/tr>
DNM1<\/td>\u3066\u3093\u304b\u3093\u6027\u8133\u75c7\u3001\u4e73\u5150\u671f\u521d\u671f<\/td>AD\/AR<\/td><\/tr>
DNM1L<\/td>\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2\u304a\u3088\u3073\u30da\u30eb\u30aa\u30ad\u30b7\u30bd\u30fc\u30e0\u5206\u88c2\u306e\u6b20\u9665\u306b\u3088\u308b\u8133\u75c7 1<\/td>AD\/AR<\/td><\/tr>
DOCK7<\/td>\u3066\u3093\u304b\u3093\u6027\u8133\u75c7<\/td>AR<\/td><\/tr>
DOLK<\/td>\u5148\u5929\u6027\u30b0\u30ea\u30b3\u30b7\u30eb\u5316\u969c\u5bb3<\/td>AR<\/td><\/tr>
DPAGT1<\/td>\u5148\u5929\u6027\u7cd6\u9396\u7570\u5e38\u75c7\u3001\u7b4b\u7121\u529b\u75c7\u5019\u7fa4\u3001\u5148\u5929\u6027<\/td>AR<\/td><\/tr>
DPM1<\/td>\u5148\u5929\u6027\u30b0\u30ea\u30b3\u30b7\u30eb\u5316\u969c\u5bb3<\/td>AR<\/td><\/tr>
DPM2<\/td>\u5148\u5929\u6027\u30b0\u30ea\u30b3\u30b7\u30eb\u5316\u969c\u5bb3<\/td>AR<\/td><\/tr>
DPYD<\/td>5-\u30d5\u30eb\u30aa\u30ed\u30a6\u30e9\u30b7\u30eb\u306e\u6bd2\u6027<\/td>AD\/AR<\/td><\/tr>
DPYS<\/td>\u30b8\u30d2\u30c9\u30ed\u30d4\u30ea\u30df\u30cb\u30c0\u30fc\u30bc\u6b20\u640d\u75c7<\/td>AR<\/td><\/tr>
DYNC1H1<\/td>\u810a\u9ac4\u6027\u7b4b\u840e\u7e2e\u75c7\u3001\u30b7\u30e3\u30eb\u30b3\u30fc\u30fb\u30de\u30ea\u30fc\u30fb\u30c8\u30a5\u30fc\u30b9\u75c5\u3001\u77e5\u7684\u767a\u9054\u969c\u5bb3<\/td>AD<\/td><\/tr>
DYRK1A<\/td>\u77e5\u7684\u767a\u9054\u969c\u5bb3<\/td>AD<\/td><\/tr>
EARS2<\/td>\u8907\u5408\u9178\u5316\u7684\u30ea\u30f3\u9178\u5316\u6b20\u640d\u75c7<\/td>AR<\/td><\/tr>
ECHS1<\/td>\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2\u77ed\u9396\u30a8\u30ce\u30a4\u30ebCoA\u30d2\u30c9\u30e9\u30bf\u30fc\u30bc1\u6b20\u640d\u75c7<\/td>AR<\/td><\/tr>
ECM1<\/td>\u30ea\u30dd\u30a4\u30c9\u30bf\u30f3\u30d1\u30af\u75c7<\/td>AR<\/td><\/tr>
EEF1A2<\/td>\u3066\u3093\u304b\u3093\u6027\u8133\u75c7\u3001\u4e73\u5150\u671f\u65e9\u671f\u3001\u77e5\u7684\u767a\u9054\u969c\u5bb3<\/td>AD<\/td><\/tr>
EFHC1<\/td>\u3066\u3093\u304b\u3093\u3001\u82e5\u5e74\u6027\u30df\u30aa\u30af\u30ed\u30cb\u30fc\u3001\u3066\u3093\u304b\u3093\u3001\u91cd\u5ea6\u96e3\u6cbb\u3001\u3066\u3093\u304b\u3093\u3001\u82e5\u5e74\u6027\u6b20\u795e<\/td>AD\/AR<\/td><\/tr>
EIF2B1<\/td>\u767d\u8cea\u306e\u6d88\u5931\u3092\u4f34\u3046\u767d\u8cea\u8133\u75c7\u3001\u5375\u5de3\u767d\u8cea\u30b8\u30b9\u30c8\u30ed\u30d5\u30a3\u30fc<\/td>AD\/AR<\/td><\/tr>
EIF2B2<\/td>\u767d\u8cea\u306e\u6d88\u5931\u3092\u4f34\u3046\u767d\u8cea\u8133\u75c7\u3001\u5375\u5de3\u767d\u8cea\u30b8\u30b9\u30c8\u30ed\u30d5\u30a3\u30fc<\/td>AR<\/td><\/tr>
EIF2B3<\/td>\u767d\u8cea\u306e\u6d88\u5931\u3092\u4f34\u3046\u767d\u8cea\u8133\u75c7\u3001\u5375\u5de3\u767d\u8cea\u30b8\u30b9\u30c8\u30ed\u30d5\u30a3\u30fc<\/td>AR<\/td><\/tr>
EIF2B4<\/td>\u767d\u8cea\u306e\u6d88\u5931\u3092\u4f34\u3046\u767d\u8cea\u8133\u75c7\u3001\u5375\u5de3\u767d\u8cea\u30b8\u30b9\u30c8\u30ed\u30d5\u30a3\u30fc<\/td>AR<\/td><\/tr>
EIF2B5<\/td>\u767d\u8cea\u306e\u6d88\u5931\u3092\u4f34\u3046\u767d\u8cea\u8133\u75c7\u3001\u5375\u5de3\u767d\u8cea\u30b8\u30b9\u30c8\u30ed\u30d5\u30a3\u30fc<\/td>AR<\/td><\/tr>
EIF3F<\/td>\u77e5\u7684\u969c\u5bb3\u3001\u5e38\u67d3\u8272\u4f53\u52a3\u6027\u907a\u4f1d<\/td>AR<\/td><\/tr>
EML1<\/td>\u30d0\u30f3\u30c9\u30d8\u30c6\u30ed\u30c8\u30d4\u30a2<\/td>AR<\/td><\/tr>
EPM2A<\/td>\u3066\u3093\u304b\u3093\u3001\u9032\u884c\u6027\u30df\u30aa\u30af\u30ed\u30cb\u30fc<\/td>AR<\/td><\/tr>
EPRS<\/td>\u767d\u8cea\u30b8\u30b9\u30c8\u30ed\u30d5\u30a3\u30fc\u3001\u9ac4\u9798\u5f62\u6210\u4e0d\u5168<\/td>AR<\/td><\/tr>
ETFA<\/td>\u30b0\u30eb\u30bf\u30eb\u9178\u5c3f\u75c7\u3001\u591a\u91cd\u30a2\u30b7\u30ebCoA\u30c7\u30d2\u30c9\u30ed\u30b2\u30ca\u30fc\u30bc\u6b20\u640d\u75c7<\/td>AR<\/td><\/tr>
ETFB<\/td>\u30b0\u30eb\u30bf\u30eb\u9178\u5c3f\u75c7\u3001\u591a\u91cd\u30a2\u30b7\u30ebCoA\u30c7\u30d2\u30c9\u30ed\u30b2\u30ca\u30fc\u30bc\u6b20\u640d\u75c7<\/td>AR<\/td><\/tr>
ETFDH<\/td>\u30b0\u30eb\u30bf\u30eb\u9178\u5c3f\u75c7\u3001\u591a\u91cd\u30a2\u30b7\u30ebCoA\u30c7\u30d2\u30c9\u30ed\u30b2\u30ca\u30fc\u30bc\u6b20\u640d\u75c7<\/td>AR<\/td><\/tr>
ETHE1<\/td>\u30a8\u30c1\u30eb\u30de\u30ed\u30f3\u6027\u8133\u75c7<\/td>AR<\/td><\/tr>
FA2H<\/td>\u75d9\u6027\u5bfe\u9ebb\u75fa<\/td>AR<\/td><\/tr>
FAM126A<\/td>\u767d\u8cea\u30b8\u30b9\u30c8\u30ed\u30d5\u30a3\u30fc\u3001\u9ac4\u9798\u5f62\u6210\u4e0d\u5168<\/td>AR<\/td><\/tr>
FAR1<\/td>\u30da\u30eb\u30aa\u30ad\u30b7\u30bd\u30fc\u30e0\u8102\u80aa\u9178\u30a2\u30b7\u30ebCoA\u9084\u5143\u9175\u7d201\u969c\u5bb3<\/td>AR<\/td><\/tr>
FARS2<\/td>\u8907\u5408\u9178\u5316\u7684\u30ea\u30f3\u9178\u5316\u6b20\u640d\u75c7 14 \u540d\u3001\u75d9\u6027\u5bfe\u9ebb\u75fa 77 \u540d\u3001\u5e38\u67d3\u8272\u4f53\u52a3\u6027\u907a\u4f1d<\/td>AR<\/td><\/tr>
FDFT1<\/td>\u6210\u9577\u9045\u5ef6\u3001\u767a\u9054\u9045\u5ef6\u3001\u9854\u9762\u5947\u5f62<\/td>AR<\/td><\/tr>
FDX1L<\/td>\u30df\u30aa\u30d1\u30c1\u30fc<\/td>AR<\/td><\/tr>
FGF12<\/td>\u3066\u3093\u304b\u3093\u6027\u8133\u75c7\u3001\u4e73\u5150\u65e9\u671f\u300147<\/td>AD<\/td><\/tr>
FH<\/td>\u907a\u4f1d\u6027\u5e73\u6ed1\u7b4b\u816b\u75c7\u304a\u3088\u3073\u814e\u7d30\u80de\u304c\u3093\u3001\u30d5\u30de\u30e9\u30fc\u30bc\u6b20\u640d\u75c7<\/td>AD\/AR<\/td><\/tr>
FKTN<\/td>\u7b4b\u30b8\u30b9\u30c8\u30ed\u30d5\u30a3\u30fc\u30fb\u30b8\u30b9\u30c8\u30b0\u30ea\u30ab\u30ce\u75c7\u3001\u62e1\u5f35\u578b\u5fc3\u7b4b\u75c7\uff08DCM\uff09\u3001\u7b4b\u30b8\u30b9\u30c8\u30ed\u30d5\u30a3\u30fc\u30fb\u30b8\u30b9\u30c8\u30b0\u30ea\u30ab\u30ce\u75c7\uff08\u56db\u80a2\u5e2f\uff09<\/td>AR<\/td><\/tr>
FLNA<\/td>\u524d\u982d\u9aa8\u5e79\u7570\u5f62\u6210\u3001\u9aa8\u7570\u5f62\u6210\u30e1\u30eb\u30cb\u30c3\u30af\u30fb\u30cb\u30fc\u30c9\u30eb\u30ba\u3001\u8033\u53e3\u6307\u75c7\u5019\u7fa41\u578b\u3001\u8033\u53e3\u6307\u75c7\u5019\u7fa42\u578b\u3001\u8272\u7d20\u6b20\u640d\u3092\u4f34\u3046\u7d42\u672b\u9aa8\u7570\u5f62\u6210\u3001\u5fc3\u5ba4\u5468\u56f2\u7d50\u7bc0\u6027\u7570\u6240\u89961\u3001\u30e1\u30eb\u30cb\u30c3\u30af\u30fb\u30cb\u30fc\u30c9\u30eb\u75c7\u5019\u7fa4\u3001\u8178\u7ba1\u4eee\u6027\u9589\u585e\u3001\u30cb\u30e5\u30fc\u30ed\u30f3\u3001X\u9023\u9396\/\u5148\u5929\u6027\u77ed\u8178\u75c7\u5019\u7fa4\u3001\u5fc3\u81d3\u5f01\u5f62\u6210\u4e0d\u5168\u3001X \u9023\u9396\u6027<\/td>XL<\/td><\/tr>
FOLR1<\/td>\u8133\u8449\u9178\u6b20\u4e4f\u75c7<\/td>AR<\/td><\/tr>
FOXG1<\/td>\u30ec\u30c3\u30c8\u75c7\u5019\u7fa4\u3001\u5148\u5929\u6027\u5909\u7570\u578b<\/td>AD<\/td><\/tr>
FOXRED1<\/td>\u30ea\u30fc\u75c7\u5019\u7fa4\u3001\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2\u8907\u5408\u4f53I\u6b20\u640d\u75c7<\/td>AR<\/td><\/tr>
FRRS1L<\/td>\u3066\u3093\u304b\u3093\u6027\u8133\u75c7\u3001\u4e73\u5150\u65e9\u671f\u300137<\/td>AR<\/td><\/tr>
FUT8<\/td>\u5148\u5929\u6027\u30b0\u30ea\u30b3\u30b7\u30eb\u5316\u969c\u5bb3<\/td>AR<\/td><\/tr>
GABBR2<\/td>\u3066\u3093\u304b\u3093\u6027\u8133\u75c7<\/td>AD<\/td><\/tr>
GABRA1<\/td>\u3066\u3093\u304b\u3093\u6027\u8133\u75c7\u3001\u4e73\u5150\u671f\u65e9\u671f\u3001\u3066\u3093\u304b\u3093\u3001\u5c0f\u5150\u6b20\u5e2d\u3001\u3066\u3093\u304b\u3093\u3001\u82e5\u5e74\u6027\u30df\u30aa\u30af\u30ed\u30cb\u30fc<\/td>AD<\/td><\/tr>
GABRB1<\/td>\u3066\u3093\u304b\u3093\u6027\u8133\u75c7\u3001\u4e73\u5150\u65e9\u671f\u300145<\/td>AD<\/td><\/tr>
GABRB2<\/td>\u3066\u3093\u304b\u3093\u6027\u8133\u75c7<\/td>AD<\/td><\/tr>
GABRB3<\/td>\u3066\u3093\u304b\u3093\u3001\u5e7c\u5c11\u671f\u6b20\u5e2d<\/td>AD<\/td><\/tr>
GABRG2<\/td>\u71b1\u6027\u3051\u3044\u308c\u3093\u3092\u4f34\u3046\u5168\u822c\u6027\u3066\u3093\u304b\u3093\u3001\u5bb6\u65cf\u6027\u71b1\u6027\u3051\u3044\u308c\u3093\u3001\u30c9\u30e9\u30d9\u75c7\u5019\u7fa4\u3001\u3066\u3093\u304b\u3093\u3001\u5c0f\u5150\u6b20\u5e2d<\/td>AD<\/td><\/tr>
GALC<\/td>\u30af\u30e9\u30c3\u30d9\u75c5<\/td>AR<\/td><\/tr>
GAMT<\/td>\u30b0\u30a2\u30cb\u30b8\u30ce\u9162\u9178\u30e1\u30c1\u30eb\u30c8\u30e9\u30f3\u30b9\u30d5\u30a7\u30e9\u30fc\u30bc\u6b20\u640d\u75c7<\/td>AR<\/td><\/tr>
GCDH<\/td>\u30b0\u30eb\u30bf\u30eb\u9178\u5c3f\u75c7<\/td>AR<\/td><\/tr>
GCH1<\/td>\u30c9\u30fc\u30d1\u53cd\u5fdc\u6027\u30b8\u30b9\u30c8\u30cb\u30a2 \u9ad8\u30d5\u30a7\u30cb\u30eb\u30a2\u30e9\u30cb\u30f3\u8840\u75c7\u3001BH4\u6b20\u640d\u3001GTP\u30b7\u30af\u30ed\u30d2\u30c9\u30ed\u30e9\u30fc\u30bc1\u6b20\u640d \u30c9\u30fc\u30d1\u53cd\u5fdc\u6027\u30b8\u30b9\u30c8\u30cb\u30a2<\/td>AD\/AR<\/td><\/tr>
GCSH<\/td>\u30b0\u30ea\u30b7\u30f3\u8133\u75c7<\/td>AR<\/td><\/tr>
GFAP<\/td>\u30a2\u30ec\u30af\u30b5\u30f3\u30c0\u30fc\u75c5<\/td>AD<\/td><\/tr>
GFM1<\/td>\u8907\u5408\u9178\u5316\u7684\u30ea\u30f3\u9178\u5316\u6b20\u640d\u75c7<\/td>AR<\/td><\/tr>
GFM2<\/td>\u8907\u5408\u9178\u5316\u7684\u30ea\u30f3\u9178\u5316\u6b20\u640d\u75c7<\/td>AR<\/td><\/tr>
GJC2<\/td>\u75d9\u6027\u5bfe\u9ebb\u75fa\u3001\u30ea\u30f3\u30d1\u6d6e\u816b\u3001\u907a\u4f1d\u6027\u3001\u767d\u8cea\u30b8\u30b9\u30c8\u30ed\u30d5\u30a3\u30fc\u3001\u9ac4\u9798\u5f62\u6210\u4e0d\u5168<\/td>AD\/AR<\/td><\/tr>
GLB1<\/td>GM1-\u30ac\u30f3\u30b0\u30ea\u30aa\u30b7\u30c9\u30fc\u30b7\u30b9\u3001\u30e0\u30b3\u591a\u7cd6\u75c7\uff08\u30e2\u30eb\u30ad\u30aa\u75c7\u5019\u7fa4\uff09<\/td>AR<\/td><\/tr>
GLDC<\/td>\u30b0\u30ea\u30b7\u30f3\u8133\u75c7<\/td>AR<\/td><\/tr>
GLRB<\/td>\u30cf\u30a4\u30d1\u30fc\u30ec\u30af\u30d7\u30ec\u30b7\u30a2 2<\/td>AR<\/td><\/tr>
GLS<\/td><\/td><\/td><\/tr>
GLUD1<\/td>\u9ad8\u30a2\u30f3\u30e2\u30cb\u30a2\u8840\u75c7\u30fb\u9ad8\u30a4\u30f3\u30b9\u30ea\u30f3\u75c7\u3001\u9ad8\u30a4\u30f3\u30b9\u30ea\u30f3\u8840\u75c7\u6027\u4f4e\u8840\u7cd6\u75c7<\/td>AD\/AR<\/td><\/tr>
GNAO1<\/td>\u3066\u3093\u304b\u3093\u6027\u8133\u75c7\u3001\u4e73\u5150\u671f\u65e9\u671f\u3001\u3066\u3093\u304b\u3093\u6027\u8133\u75c7\u3001\u4e73\u5150\u671f\u521d\u671f\u300117<\/td>AD<\/td><\/tr>
GNB1<\/td>\u7cbe\u795e\u9045\u6ede\u3001\u5e38\u67d3\u8272\u4f53\u512a\u6027\u907a\u4f1d 42<\/td>AD<\/td><\/tr>
GNE<\/td>\u8fd1\u4f4d\u30df\u30aa\u30d1\u30c1\u30fc\u3068\u773c\u7b4b\u9ebb\u75fa\u3001\u91ce\u4e2d\u30df\u30aa\u30d1\u30c1\u30fc\u3001\u30b7\u30a2\u30eb\u5c3f\u75c7<\/td>AD\/AR<\/td><\/tr>
GOLGA2<\/td>\u5c0f\u982d\u75c7\u3001\u767a\u4f5c\u3001\u767a\u9054\u9045\u5ef6<\/td>AR<\/td><\/tr>
GOSR2<\/td>\u3066\u3093\u304b\u3093\u3001\u9032\u884c\u6027\u30df\u30aa\u30af\u30ed\u30cb\u30fc\u75c7<\/td>AR<\/td><\/tr>
GPAA1<\/td>\u5c0f\u8133\u840e\u7e2e\u3001\u767a\u9054\u9045\u5ef6\u3001\u304a\u3088\u3073\u767a\u4f5c\uff08CADEDS\uff09<\/td>AR<\/td><\/tr>
GPHN<\/td>\u904e\u30ec\u30af\u30d7\u30ec\u30ad\u30a2\u3001\u30e2\u30ea\u30d6\u30c7\u30f3\u88dc\u56e0\u5b50\u6b20\u4e4f\u75c7<\/td>AD\/AR<\/td><\/tr>
GRIA3<\/td>\u77e5\u7684\u767a\u9054\u969c\u5bb3<\/td>XL<\/td><\/tr>
GRIA4<\/td>\u77e5\u7684\u969c\u5bb3\u3068\u767a\u4f5c<\/td><\/td><\/tr>
GRIK2<\/td>\u7cbe\u795e\u9045\u6ede\u3001\u5e38\u67d3\u8272\u4f53\u52a3\u60276<\/td>AR<\/td><\/tr>
GRIN1<\/td>\u30d9\u30c3\u30af\u30fb\u30d5\u30a1\u30fc\u30ca\u30fc\u75c7\u5019\u7fa4\u3001\u7cbe\u795e\u9045\u6ede\u3001\u5e38\u67d3\u8272\u4f53\u512a\u60278\u578b<\/td>AD\/AR<\/td><\/tr>
GRIN2A<\/td>\u3066\u3093\u304b\u3093\u3001\u7126\u70b9\u6027\u3001\u8a00\u8a9e\u969c\u5bb3\u3092\u4f34\u3046<\/td>AD<\/td><\/tr>
GRIN2B<\/td>\u3066\u3093\u304b\u3093\u6027\u8133\u75c7\u3001\u4e73\u5150\u671f\u65e9\u671f\u3001\u77e5\u7684\u767a\u9054\u969c\u5bb3<\/td>AD<\/td><\/tr>
GRIN2D<\/td>\u3066\u3093\u304b\u3093\u6027\u8133\u75c7\u3001\u4e73\u5150\u65e9\u671f\u300146<\/td>AD<\/td><\/tr>
GRN<\/td>TDP43 \u5c01\u5165\u4f53\u3092\u4f34\u3046\u524d\u982d\u5074\u982d\u8449\u5909\u6027\u3001GRN \u95a2\u9023\u3001\u795e\u7d4c\u30bb\u30ed\u30a4\u30c9 \u30ea\u30dd\u30d5\u30b9\u30c1\u30f3\u75c7<\/td>AD\/AR<\/td><\/tr>
GTPBP3<\/td>\u8907\u5408\u9178\u5316\u7684\u30ea\u30f3\u9178\u5316\u6b20\u640d\u75c7 23<\/td>AR<\/td><\/tr>
GUF1<\/td>\u3066\u3093\u304b\u3093\u6027\u8133\u75c7\u3001\u4e73\u5150\u65e9\u671f 40<\/td><\/td><\/tr>
HACE1<\/td>\u3051\u3044\u308c\u3093\u6027\u5bfe\u9ebb\u75fa\u304a\u3088\u3073\u7cbe\u795e\u904b\u52d5\u9045\u6ede\uff08\u767a\u4f5c\u306e\u6709\u7121\u306b\u304b\u304b\u308f\u3089\u305a\uff09<\/td>AR<\/td><\/tr>
HCN1<\/td>\u3066\u3093\u304b\u3093\u6027\u8133\u75c7\u3001\u4e73\u5150\u671f\u521d\u671f<\/td>AD<\/td><\/tr>
HCN2<\/td>\u3066\u3093\u304b\u3093<\/td>AD\/AR<\/td><\/tr>
HECW2<\/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>AD<\/td><\/tr>
HEPACAM<\/td>\u76ae\u8cea\u4e0b\u56a2\u80de\u3092\u4f34\u3046\u5de8\u8133\u6027\u767d\u8cea\u8133\u75c7\u3001\u5bdb\u89e3<\/td>AD\/AR<\/td><\/tr>
HIBCH<\/td>3-\u30d2\u30c9\u30ed\u30ad\u30b7\u30a4\u30bd\u30d6\u30c8\u30ea\u30eb-CoA\u30d2\u30c9\u30ed\u30e9\u30fc\u30bc\u6b20\u640d\u75c7<\/td>AR<\/td><\/tr>
HNRNPU<\/td>\u77e5\u7684\u969c\u5bb3\u3068\u767a\u4f5c<\/td>AD<\/td><\/tr>
HSD17B10<\/td>17-\u03b2-\u30d2\u30c9\u30ed\u30ad\u30b7\u30b9\u30c6\u30ed\u30a4\u30c9\u30c7\u30d2\u30c9\u30ed\u30b2\u30ca\u30fc\u30bcX\u6b20\u640d\u75c7\u3001\u7cbe\u795e\u9045\u6ede\u3001\u75c7\u5019\u7fa4<\/td>XL<\/td><\/tr>
HSPD1<\/td>\u75d9\u6027\u5bfe\u9ebb\u75fa\u3001\u767d\u8cea\u30b8\u30b9\u30c8\u30ed\u30d5\u30a3\u30fc\u3001\u9ac4\u9798\u5f62\u6210\u4e0d\u5168<\/td>AD\/AR<\/td><\/tr>
HTRA1<\/td>\u76ae\u8cea\u4e0b\u6897\u585e\u304a\u3088\u3073\u767d\u8cea\u8133\u75c72\u578b\u8133\u52d5\u8108\u75c7\uff08CADASIL2\uff09\u3001\u76ae\u8cea\u4e0b\u6897\u585e\u304a\u3088\u3073\u767d\u8cea\u8133\u75c7\u3092\u4f34\u3046\u5e38\u67d3\u8272\u4f53\u52a3\u6027\u8133\u52d5\u8108\u75c7\uff08CARASIL\uff09<\/td>AD\/AR<\/td><\/tr>
HTT<\/td>\u30cf\u30f3\u30c1\u30f3\u30c8\u30f3\u75c5\u3001\u30ed\u30da\u30b9\u30fb\u30de\u30b7\u30a8\u30eb\u30fb\u30ed\u30c0\u30f3\u75c7\u5019\u7fa4\uff08LOMARS\uff09<\/td>AD\/AR<\/td><\/tr>
IBA57<\/td>\u591a\u767a\u6027\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2\u6a5f\u80fd\u4e0d\u5168\u75c7\u5019\u7fa4 3\u3001\u75d9\u6027\u5bfe\u9ebb\u75fa 74\u3001\u5e38\u67d3\u8272\u4f53\u52a3\u6027\u907a\u4f1d<\/td>AR<\/td><\/tr>
ICK<\/td>\u5185\u5206\u6ccc\u8133\u9aa8\u7570\u5f62\u6210\u75c7\u3001\u3066\u3093\u304b\u3093\u3001\u82e5\u5e74\u6027\u30df\u30aa\u30af\u30ed\u30cb\u30fc\u75c7<\/td>AD\/AR<\/td><\/tr>
IER3IP1<\/td>\u5c0f\u982d\u75c7\u3001\u3066\u3093\u304b\u3093\u3001\u7cd6\u5c3f\u75c5\u75c7\u5019\u7fa4<\/td>AR<\/td><\/tr>
IFIH1<\/td>\u30b7\u30f3\u30b0\u30eb\u30c8\u30f3\u30fb\u30e1\u30eb\u30c6\u30f3\u75c7\u5019\u7fa4\u3001\u30a2\u30a4\u30ab\u30eb\u30c7\u30a3\u30fb\u30b0\u30c6\u30a3\u30a8\u30fc\u30eb\u75c7\u5019\u7fa4 7<\/td>AD\/AR<\/td><\/tr>
IQSEC2<\/td>\u77e5\u7684\u767a\u9054\u969c\u5bb3<\/td>XL<\/td><\/tr>
IRF2BPL<\/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>AD<\/td><\/tr>
ITPA<\/td>\u3066\u3093\u304b\u3093\u6027\u8133\u75c7\u3001\u4e73\u5150\u65e9\u671f\u300135<\/td>AR<\/td><\/tr>
KCNA1<\/td>\u30a8\u30d4\u30bd\u30fc\u30c9\u6027\u904b\u52d5\u5931\u8abf\/\u30df\u30aa\u30ad\u30df\u30a2\u75c7\u5019\u7fa4<\/td>AD<\/td><\/tr>
KCNA2<\/td>\u3066\u3093\u304b\u3093\u6027\u8133\u75c7\u3001\u4e73\u5150\u671f\u521d\u671f<\/td>AD<\/td><\/tr>
KCNB1<\/td>\u65e9\u671f\u4e73\u5150\u3066\u3093\u304b\u3093\u6027\u8133\u75c7<\/td>AD<\/td><\/tr>
KCNC1<\/td>\u3066\u3093\u304b\u3093\u3001\u9032\u884c\u6027\u30df\u30aa\u30af\u30ed\u30cb\u30fc<\/td>AD<\/td><\/tr>
KCNH1<\/td>\u30c6\u30f3\u30d7\u30eb\u30fb\u30d0\u30e9\u30a4\u30c4\u30a1\u30fc\u75c7\u5019\u7fa4\u3001\u30c4\u30a3\u30f3\u30de\u30fc\u30de\u30f3\u30fb\u30e9\u30d0\u30f3\u30c9\u75c7\u5019\u7fa4 1<\/td>AD\/AR<\/td><\/tr>
KCNJ10<\/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>AR\/Digenic<\/td><\/tr>
KCNMA1<\/td>\u5168\u822c\u6027\u3066\u3093\u304b\u3093\uff08PNKD3\uff09\u3001\u5c0f\u8133\u840e\u7e2e\u3001\u767a\u9054\u9045\u5ef6\u3001\u767a\u4f5c\uff08CADEDS\uff09\u3092\u4f34\u3046\u307e\u305f\u306f\u4f34\u308f\u306a\u3044\u767a\u4f5c\u6027\u975e\u904b\u52d5\u539f\u6027\u30b8\u30b9\u30ad\u30cd\u30b8\u30a2 3<\/td>AD\/AR<\/td><\/tr>
KCNQ2<\/td>\u3066\u3093\u304b\u3093\u6027\u8133\u75c7\u3001\u4e73\u5150\u671f\u65e9\u671f\u3001\u826f\u6027\u5bb6\u65cf\u6027\u65b0\u751f\u5150\u767a\u4f5c\u3001\u30df\u30aa\u30ad\u30df\u30a2<\/td>AD<\/td><\/tr>
KCNQ3<\/td>\u767a\u4f5c\u3001\u826f\u6027\u65b0\u751f\u5150<\/td>AD<\/td><\/tr>
KCNQ5<\/td>\u7cbe\u795e\u9045\u6ede\u3001\u5e38\u67d3\u8272\u4f53\u512a\u6027\u907a\u4f1d 46<\/td>AD<\/td><\/tr>
KCNT1<\/td>\u3066\u3093\u304b\u3093\u3001\u591c\u9593\u524d\u982d\u8449<\/td>AD<\/td><\/tr>
KCNT2<\/td>\u3066\u3093\u304b\u3093\u6027\u8133\u75c7<\/td>AD<\/td><\/tr>
KCTD3<\/td>\u3066\u3093\u304b\u3093\u6027\u8133\u75c7<\/td>AR<\/td><\/tr>
KCTD7<\/td>\u3066\u3093\u304b\u3093\u3001\u9032\u884c\u6027\u30df\u30aa\u30af\u30ed\u30cb\u30fc<\/td>AR<\/td><\/tr>
KDM5C<\/td>\u7cbe\u795e\u9045\u6ede\u3001\u75c7\u5019\u7fa4\u3001\u30af\u30ec\u30b9\u30fb\u30b8\u30a7\u30f3\u30bb\u30f3<\/td>XL<\/td><\/tr>
KIAA1715<\/td><\/td>AR<\/td><\/tr>
KIAA2022<\/td>\u77e5\u7684\u767a\u9054\u969c\u5bb3<\/td>XL<\/td><\/tr>
KIF1A<\/td>\u75d9\u6027\u5bfe\u9ebb\u75fa\u3001\u795e\u7d4c\u969c\u5bb3\u3001\u907a\u4f1d\u6027\u611f\u899a\u3001\u77e5\u7684\u767a\u9054\u969c\u5bb3<\/td>AD\/AR<\/td><\/tr>
KIF5A<\/td>\u75d9\u6027\u5bfe\u9ebb\u75fa<\/td>AD<\/td><\/tr>
KIF5C<\/td>\u4ed6\u306e\u8133\u5947\u5f62\u3092\u4f34\u3046\u76ae\u8cea\u7570\u5f62\u6210\u3001\u8907\u5408\u4f53 2<\/td>AD<\/td><\/tr>
KMT2E<\/td>\u795e\u7d4c\u767a\u9054\u969c\u5bb3<\/td>AD<\/td><\/tr>
L2HGDH<\/td>L-2-\u30d2\u30c9\u30ed\u30ad\u30b7\u30b0\u30eb\u30bf\u30eb\u9178\u5c3f\u75c7<\/td>AR<\/td><\/tr>
LGI1<\/td>\u3066\u3093\u304b\u3093\u3001\u5bb6\u65cf\u6027\u5074\u982d\u8449<\/td>AD<\/td><\/tr>
LIAS<\/td>\u30d4\u30eb\u30d3\u30f3\u9178\u8131\u6c34\u7d20\u30ea\u30dd\u9178\u30b7\u30f3\u30c6\u30bf\u30fc\u30bc\u6b20\u640d\u75c7<\/td>AR<\/td><\/tr>
LMNB1<\/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>AD<\/td><\/tr>
LMNB2<\/td>\u8102\u80aa\u30b8\u30b9\u30c8\u30ed\u30d5\u30a3\u30fc\u3001\u90e8\u5206\u7684\u3001\u5f8c\u5929\u6027\u3001\u3066\u3093\u304b\u3093\u3001\u9032\u884c\u6027\u30df\u30aa\u30af\u30ed\u30cb\u30fc\u30019<\/td>AD\/AR<\/td><\/tr>
LRPPRC<\/td>\u30ea\u30fc\u75c7\u5019\u7fa4\u3001\u30d5\u30e9\u30f3\u30b9\u7cfb\u30ab\u30ca\u30c0\u4eba\u578b<\/td>AR<\/td><\/tr>
LYRM7<\/td>\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2\u8907\u5408\u4f53III\u6b20\u640d\u75c7\u3001\u6838\u30bf\u30a4\u30d78<\/td>AR<\/td><\/tr>
MACF1<\/td>\u6ed1\u8133\u75c7<\/td>AD<\/td><\/tr>
MAGI2<\/td>\u30cd\u30d5\u30ed\u30fc\u30bc\u75c7\u5019\u7fa4 15<\/td>AR<\/td><\/tr>
MARS2<\/td>\u8907\u5408\u9178\u5316\u7684\u30ea\u30f3\u9178\u5316\u6b20\u640d\u75c7<\/td>AR<\/td><\/tr>
MBD5<\/td>\u77e5\u7684\u767a\u9054\u969c\u5bb3<\/td>AD<\/td><\/tr>
MBOAT7<\/td>\u7cbe\u795e\u9045\u6ede\u3001\u5e38\u67d3\u8272\u4f53\u52a3\u6027\u907a\u4f1d 57<\/td>AR<\/td><\/tr>
MDH2<\/td>\u3066\u3093\u304b\u3093\u6027\u8133\u75c7\u3001\u4e73\u5150\u65e9\u671f\u300151<\/td>AR<\/td><\/tr>
MECP2<\/td>\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>XL<\/td><\/tr>
MED12<\/td>\u30aa\u30fc\u30c9\u30fc\u75c7\u5019\u7fa4\u3001\u30de\u30eb\u30d5\u30a1\u30ce\u30a4\u30c9\u30fb\u30cf\u30d3\u30c8\u30a5\u30b9\u306b\u3088\u308b\u77e5\u7684\u969c\u5bb3\u3001FG\u75c7\u5019\u7fa4\u3001\u30aa\u30d4\u30c3\u30c4\u30fb\u30ab\u30f4\u30a7\u30c3\u30b8\u30e3\u75c7\u5019\u7fa4\u3001\u30eb\u30b8\u30e3\u30f3\u30fb\u30d5\u30e9\u30a4\u30f3\u30ba\u75c7\u5019\u7fa4<\/td>XL<\/td><\/tr>
MED17<\/td>\u5c0f\u982d\u75c7\u3001\u51fa\u751f\u5f8c\u9032\u884c\u6027\u3001\u767a\u4f5c\u3068\u8133\u840e\u7e2e\u3092\u4f34\u3046<\/td>AR<\/td><\/tr>
MEF2C<\/td>\u77e5\u7684\u767a\u9054\u969c\u5bb3<\/td>AD<\/td><\/tr>
MFSD8<\/td>\u30bb\u30ed\u30a4\u30c9\u30ea\u30dd\u30d5\u30b9\u30c1\u30f3\u75c7\u3001\u795e\u7d4c\u6027<\/td>AR<\/td><\/tr>
MIPEP<\/td>\u8907\u5408\u9178\u5316\u7684\u30ea\u30f3\u9178\u5316\u6b20\u640d\u75c7 31<\/td>AR<\/td><\/tr>
MLC1<\/td>\u76ae\u8cea\u4e0b\u56a2\u80de\u3092\u4f34\u3046\u5de8\u8133\u6027\u767d\u8cea\u8133\u75c7<\/td>AR<\/td><\/tr>
MOCS1<\/td>\u30e2\u30ea\u30d6\u30c7\u30f3\u88dc\u56e0\u5b50\u6b20\u4e4f\u75c7<\/td>AR<\/td><\/tr>
MOCS2<\/td>\u30e2\u30ea\u30d6\u30c7\u30f3\u88dc\u56e0\u5b50\u6b20\u4e4f\u75c7<\/td>AR<\/td><\/tr>
MRPL44<\/td>\u8907\u5408\u9178\u5316\u7684\u30ea\u30f3\u9178\u5316\u6b20\u640d\u75c7 16<\/td>AR<\/td><\/tr>
MT-ATP6<\/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>Mitochondrial<\/td><\/tr>
MT-ATP8<\/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>Mitochondrial<\/td><\/tr>
MT-CO1<\/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>Mitochondrial<\/td><\/tr>
MT-CO2<\/td>\u30c1\u30c8\u30af\u30ed\u30e0C\u30aa\u30ad\u30b7\u30c0\u30fc\u30bc\u6b20\u640d\u75c7<\/td>Mitochondrial<\/td><\/tr>
MT-CO3<\/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>Mitochondrial<\/td><\/tr>
MT-CYB<\/td><\/td>Mitochondrial<\/td><\/tr>
MT-ND1<\/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>Mitochondrial<\/td><\/tr>
MT-ND2<\/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>Mitochondrial<\/td><\/tr>
MT-ND3<\/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>Mitochondrial<\/td><\/tr>
MT-ND4<\/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>Mitochondrial<\/td><\/tr>
MT-ND4L<\/td>\u30ec\u30d0\u30fc\u907a\u4f1d\u6027\u8996\u795e\u7d4c\u75c7<\/td>Mitochondrial<\/td><\/tr>
MT-ND5<\/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>Mitochondrial<\/td><\/tr>
MT-ND6<\/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>Mitochondrial<\/td><\/tr>
MT-RNR1<\/td>\u96e3\u8074\u3001\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2<\/td>Mitochondrial<\/td><\/tr>
MT-RNR2<\/td>\u30af\u30ed\u30e9\u30e0\u30d5\u30a7\u30cb\u30b3\u30fc\u30eb\u306e\u6bd2\u6027\/\u8010\u6027<\/td>Mitochondrial<\/td><\/tr>
MT-TA<\/td><\/td>Mitochondrial<\/td><\/tr>
MT-TC<\/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>Mitochondrial<\/td><\/tr>
MT-TD<\/td><\/td>Mitochondrial<\/td><\/tr>
MT-TE<\/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>Mitochondrial<\/td><\/tr>
MT-TF<\/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>Mitochondrial<\/td><\/tr>
MT-TG<\/td><\/td>Mitochondrial<\/td><\/tr>
MT-TH<\/td><\/td>Mitochondrial<\/td><\/tr>
MT-TI<\/td><\/td>Mitochondrial<\/td><\/tr>
MT-TK<\/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>Mitochondrial<\/td><\/tr>
MT-TL1<\/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>Mitochondrial<\/td><\/tr>
MT-TL2<\/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>Mitochondrial<\/td><\/tr>
MT-TM<\/td>\u30ea\u30fc\u75c7\u5019\u7fa4\u3001\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2\u591a\u7cfb\u7d71\u969c\u5bb3<\/td>Mitochondrial<\/td><\/tr>
MT-TN<\/td>\u9032\u884c\u6027\u5916\u773c\u7b4b\u9ebb\u75fa\u3001\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2\u591a\u7cfb\u7d71\u969c\u5bb3<\/td>Mitochondrial<\/td><\/tr>
MT-TP<\/td><\/td>Mitochondrial<\/td><\/tr>
MT-TQ<\/td>\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2\u591a\u7cfb\u7d71\u969c\u5bb3<\/td>Mitochondrial<\/td><\/tr>
MT-TR<\/td>\u8133\u75c7\u3001\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2<\/td>Mitochondrial<\/td><\/tr>
MT-TS1<\/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>Mitochondrial<\/td><\/tr>
MT-TS2<\/td>\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2\u591a\u7cfb\u7d71\u969c\u5bb3<\/td>Mitochondrial<\/td><\/tr>
MT-TT<\/td><\/td>Mitochondrial<\/td><\/tr>
MT-TV<\/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>Mitochondrial<\/td><\/tr>
MT-TW<\/td>\u30ea\u30fc\u75c7\u5019\u7fa4\u3001\u30df\u30aa\u30d1\u30c1\u30fc\u3001\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2<\/td>Mitochondrial<\/td><\/tr>
MT-TY<\/td>\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2\u591a\u7cfb\u7d71\u969c\u5bb3<\/td>Mitochondrial<\/td><\/tr>
MTFMT<\/td>\u8907\u5408\u9178\u5316\u7684\u30ea\u30f3\u9178\u5316\u6b20\u640d\u75c7 15<\/td>AR<\/td><\/tr>
MTHFR<\/td>MTHFR\u6b20\u640d\u306b\u3088\u308b\u30db\u30e2\u30b7\u30b9\u30c1\u30f3\u5c3f\u75c7<\/td>AR<\/td><\/tr>
MTOR<\/td>\u30b9\u30df\u30b9\u30fb\u30ad\u30f3\u30b0\u30b9\u30e2\u30a2\u75c7\u5019\u7fa4<\/td>AD<\/td><\/tr>
NACC1<\/td>\u795e\u7d4c\u767a\u9054\u969c\u5bb3<\/td>AD<\/td><\/tr>
NBEA<\/td>\u3066\u3093\u304b\u3093<\/td>AD<\/td><\/tr>
NDST1<\/td>\u7cbe\u795e\u9045\u6ede\u3001\u5e38\u67d3\u8272\u4f53\u52a3\u6027\u907a\u4f1d 46<\/td>AR<\/td><\/tr>
NDUFAF3<\/td>\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2\u8907\u5408\u4f53I\u6b20\u640d\u75c7<\/td>AR<\/td><\/tr>
NDUFAF5<\/td>\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2\u8907\u5408\u4f53I\u6b20\u640d\u75c7<\/td>AR<\/td><\/tr>
NDUFAF6<\/td>\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2\u8907\u5408\u4f53I\u6b20\u640d\u75c7\u3001\u30ea\u30fc\u75c7\u5019\u7fa4<\/td>AR<\/td><\/tr>
NDUFS2<\/td>\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2\u8907\u5408\u4f53I\u6b20\u640d\u75c7<\/td>AR<\/td><\/tr>
NDUFS4<\/td>\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2\u8907\u5408\u4f53I\u6b20\u640d\u75c7\u3001\u30ea\u30fc\u75c7\u5019\u7fa4<\/td>AR<\/td><\/tr>
NDUFS6<\/td>\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2\u8907\u5408\u4f53I\u6b20\u640d\u75c7<\/td>AR<\/td><\/tr>
NDUFS7<\/td>\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2\u8907\u5408\u4f53I\u6b20\u640d\u75c7\u3001\u30ea\u30fc\u75c7\u5019\u7fa4<\/td>AR<\/td><\/tr>
NDUFS8<\/td>\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2\u8907\u5408\u4f53I\u6b20\u640d\u75c7\u3001\u30ea\u30fc\u75c7\u5019\u7fa4<\/td>AR<\/td><\/tr>
NDUFV1<\/td>\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2\u8907\u5408\u4f53I\u6b20\u640d\u75c7<\/td>AR<\/td><\/tr>
NECAP1<\/td>\u3066\u3093\u304b\u3093\u6027\u8133\u75c7\u3001\u4e73\u5150\u671f\u521d\u671f<\/td>AR<\/td><\/tr>
NEU1<\/td>\u30b7\u30a2\u30ea\u30c9\u30fc\u30b7\u30b9<\/td>AR<\/td><\/tr>
NEUROD2<\/td>\u3066\u3093\u304b\u3093\u6027\u8133\u75c7<\/td>AD<\/td><\/tr>
NFU1<\/td>\u591a\u767a\u6027\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2\u6a5f\u80fd\u4e0d\u5168\u75c7\u5019\u7fa4 1<\/td>AR<\/td><\/tr>
NHLRC1<\/td>\u3066\u3093\u304b\u3093\u3001\u9032\u884c\u6027\u30df\u30aa\u30af\u30ed\u30cb\u30fc<\/td>AR<\/td><\/tr>
NKX6-2<\/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>AR<\/td><\/tr>
NOTCH3<\/td>\u76ae\u8cea\u4e0b\u6897\u585e\u304a\u3088\u3073\u767d\u8cea\u8133\u75c7\u3092\u4f34\u3046\u8133\u52d5\u8108\u969c\u5bb3\uff08CADASIL\uff09\u3001\u5074\u65b9\u9ac4\u819c\u7624\u75c7\u5019\u7fa4<\/td>AD<\/td><\/tr>
NPRL2<\/td>\u3066\u3093\u304b\u3093\u3001\u5bb6\u65cf\u6027\u7126\u70b9\u3001\u53ef\u5909\u7126\u70b9 2<\/td>AD<\/td><\/tr>
NPRL3<\/td>\u3066\u3093\u304b\u3093\u3001\u5bb6\u65cf\u6027\u7126\u70b9\u3001\u53ef\u5909\u7126\u70b9 3<\/td>AD<\/td><\/tr>
NR2F1<\/td>\u30dc\u30c3\u30b7\u30e5\u30fb\u30d6\u30fc\u30f3\u30b9\u30c8\u30e9\u8996\u795e\u7d4c\u840e\u7e2e\u75c7\u5019\u7fa4<\/td>AD<\/td><\/tr>
NRXN1<\/td>\u30d4\u30c3\u30c8\u30fb\u30db\u30d7\u30ad\u30f3\u30b9\u69d8\u75c7\u5019\u7fa4\u3001\u919c\u5f62\u9854\u8c8c\u304a\u3088\u3073\u81ea\u9589\u75c7\u3092\u4f34\u3046\u307e\u305f\u306f\u4f34\u308f\u306a\u3044\u767a\u9054\u9045\u5ef6<\/td>AD\/AR<\/td><\/tr>
NSDHL<\/td>\u9b5a\u9c57\u69d8\u7d05\u76ae\u75c7\u304a\u3088\u3073\u56db\u80a2\u6b20\u640d\u3092\u4f34\u3046\u5148\u5929\u6027\u534a\u8eab\u7570\u5f62\u6210\uff08CHILD\u75c7\u5019\u7fa4\uff09\u3001CK\u75c7\u5019\u7fa4<\/td>XL<\/td><\/tr>
NT5C2<\/td>\u75d9\u6027\u5bfe\u9ebb\u75fa 45<\/td>AR<\/td><\/tr>
NTRK2<\/td>\u80a5\u6e80\u3001\u904e\u98df\u3001\u767a\u9054\u9045\u5ef6<\/td>AD<\/td><\/tr>
NUBPL<\/td>\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2\u8907\u5408\u4f53I\u6b20\u640d\u75c7<\/td>AR<\/td><\/tr>
NUS<\/td>\u5148\u5929\u6027\u7cd6\u9396\u7570\u5e38\u75c7\u30011aa\u578b<\/td><\/td><\/tr>
OCLN<\/td>\u507dTORCH\u75c7\u5019\u7fa41\uff08\u5358\u7d14\u5316\u3057\u305f\u56de\u8ee2\u3068\u591a\u767a\u6027\u5c0f\u8133\u56de\u3092\u4f34\u3046\u5e2f\u72b6\u77f3\u7070\u5316\uff09<\/td>AR<\/td><\/tr>
OFD1<\/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>XL<\/td><\/tr>
OPHN1<\/td>\u5c0f\u8133\u4f4e\u5f62\u6210\u3068\u72ec\u7279\u306e\u9854\u8c8c\u3092\u4f34\u3046\u7cbe\u795e\u9045\u6ede<\/td>XL<\/td><\/tr>
P4HTM<\/td>\u77e5\u7684\u969c\u5bb3\u3068\u767a\u4f5c<\/td>AR<\/td><\/tr>
PACS1<\/td>\u7cbe\u795e\u9045\u6ede\u3001\u5e38\u67d3\u8272\u4f53\u512a\u602717\u578b\uff08\u30b7\u30e5\u30b9\u30fb\u30db\u30a4\u30a4\u30e1\u30fc\u30ab\u30fc\u75c7\u5019\u7fa4\uff09<\/td>AD<\/td><\/tr>
PACS2<\/td>\u65e9\u671f\u4e73\u5150\u3066\u3093\u304b\u3093\u6027\u8133\u75c7<\/td>AD<\/td><\/tr>
PAFAH1B1<\/td>\u6ed1\u8133\u75c7\u3001\u76ae\u8cea\u4e0b\u306e\u5c64\u72b6\u7570\u6240\u8996\u75c7<\/td>AD<\/td><\/tr>
PARS2<\/td>\u30a2\u30eb\u30d1\u30fc\u30b9\u75c7\u5019\u7fa4<\/td>AR<\/td><\/tr>
PCDH19<\/td>\u3066\u3093\u304b\u3093\u6027\u8133\u75c7\u3001\u4e73\u5150\u671f\u521d\u671f<\/td>XL<\/td><\/tr>
PEX1<\/td>\u30cf\u30a4\u30e0\u30e9\u30fc\u75c7\u5019\u7fa4\u3001\u30da\u30eb\u30aa\u30ad\u30b7\u30bd\u30fc\u30e0\u751f\u5408\u6210\u56e0\u5b50\u969c\u5bb31A\u3001\u30da\u30eb\u30aa\u30ad\u30b7\u30bd\u30fc\u30e0\u751f\u5408\u6210\u56e0\u5b50\u969c\u5bb31B<\/td>AR<\/td><\/tr>
PEX10<\/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>AR<\/td><\/tr>
PEX12<\/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>AR<\/td><\/tr>
PEX13<\/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<\/td>AR<\/td><\/tr>
PEX14<\/td>\u30da\u30eb\u30aa\u30ad\u30b7\u30bd\u30fc\u30e0\u751f\u5408\u6210\u56e0\u5b50\u969c\u5bb3 14\u3001\u30bc\u30eb\u30a6\u30a3\u30ac\u30fc\u75c7\u5019\u7fa4<\/td>AR<\/td><\/tr>
PEX16<\/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>AR<\/td><\/tr>
PEX19<\/td>\u30da\u30eb\u30aa\u30ad\u30b7\u30bd\u30fc\u30e0\u751f\u5408\u6210\u969c\u5bb3\u300119\u3001\u30bc\u30eb\u30a6\u30a3\u30ac\u30fc\u75c7\u5019\u7fa4<\/td>AR<\/td><\/tr>
PEX2<\/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>AR<\/td><\/tr>
PEX26<\/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<\/td>AR<\/td><\/tr>
PEX3<\/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>AR<\/td><\/tr>
PEX5<\/td>\u526f\u814e\u767d\u8cea\u30b8\u30b9\u30c8\u30ed\u30d5\u30a3\u30fc\u3001\u65b0\u751f\u5150\u3001\u6839\u830e\u6027\u70b9\u72b6\u8edf\u9aa8\u7570\u5f62\u6210\u75c7\u3001\u30bc\u30eb\u30a6\u30a3\u30ac\u30fc\u75c7\u5019\u7fa4\u3001\u30da\u30eb\u30aa\u30ad\u30b7\u30bd\u30fc\u30e0\u751f\u6210\u969c\u5bb3<\/td>AR<\/td><\/tr>
PEX6<\/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>AR<\/td><\/tr>
PGK1<\/td>\u30db\u30b9\u30db\u30b0\u30ea\u30bb\u30ea\u30f3\u9178\u30ad\u30ca\u30fc\u30bc 1 \u6b20\u640d\u75c7<\/td>XL<\/td><\/tr>
PHACTR1<\/td>\u3066\u3093\u304b\u3093\u6027\u8133\u75c7<\/td>AD<\/td><\/tr>
PHF6<\/td>\u30dc\u30eb\u30b8\u30a7\u30bd\u30f3\u30fb\u30d5\u30a9\u30eb\u30b9\u30de\u30f3\u30fb\u30ea\u30fc\u30de\u30f3\u75c7\u5019\u7fa4<\/td>XL<\/td><\/tr>
PIGA<\/td>\u591a\u767a\u6027\u5148\u5929\u7570\u5e38-\u7b4b\u7dca\u5f35\u4f4e\u4e0b-\u767a\u4f5c\u75c7\u5019\u7fa4<\/td>XL<\/td><\/tr>
PIGB<\/td>\u3066\u3093\u304b\u3093\u6027\u8133\u75c7<\/td>AR<\/td><\/tr>
PIGC<\/td><\/td>AR<\/td><\/tr>
PIGG<\/td>\u7cbe\u795e\u9045\u6ede\u3001\u5e38\u67d3\u8272\u4f53\u52a3\u6027\u907a\u4f1d 53<\/td>AR<\/td><\/tr>
PIGN<\/td>\u591a\u767a\u6027\u5148\u5929\u7570\u5e38 – \u7b4b\u7dca\u5f35\u4f4e\u4e0b – \u767a\u4f5c\u75c7\u5019\u7fa4 1<\/td>AR<\/td><\/tr>
PIGO<\/td>\u7cbe\u795e\u9045\u6ede\u75c7\u5019\u7fa4\u3092\u4f34\u3046\u9ad8\u30db\u30b9\u30d5\u30a1\u30bf\u30fc\u30bc\u75c7 2<\/td>AR<\/td><\/tr>
PIGP<\/td>\u3066\u3093\u304b\u3093\u6027\u8133\u75c7\u3001\u4e73\u5150\u65e9\u671f\u300155<\/td>AR<\/td><\/tr>
PIGQ<\/td>\u3066\u3093\u304b\u3093\u6027\u8133\u75c7<\/td>AR<\/td><\/tr>
PIGS<\/td>\u3066\u3093\u304b\u3093\u6027\u8133\u75c7<\/td>AR<\/td><\/tr>
PIGT<\/td>\u591a\u767a\u6027\u5148\u5929\u7570\u5e38-\u7b4b\u7dca\u5f35\u4f4e\u4e0b-\u767a\u4f5c\u75c7\u5019\u7fa4 3<\/td>AR<\/td><\/tr>
PIGV<\/td>\u7cbe\u795e\u9045\u6ede\u75c7\u5019\u7fa4\u3092\u4f34\u3046\u9ad8\u30db\u30b9\u30d5\u30a1\u30bf\u30fc\u30bc\u75c7 1<\/td>AR<\/td><\/tr>
PIGW<\/td>\u7cbe\u795e\u9045\u6ede\u75c7\u5019\u7fa4\u3092\u4f34\u3046\u9ad8\u30db\u30b9\u30d5\u30a1\u30bf\u30fc\u30bc\u75c7 5<\/td>AR<\/td><\/tr>
PITRM1<\/td><\/td>AR<\/td><\/tr>
PLAA<\/td>\u795e\u7d4c\u767a\u9054\u969c\u5bb3<\/td><\/td><\/tr>
PLCB1<\/td>\u3066\u3093\u304b\u3093\u6027\u8133\u75c7\u3001\u4e73\u5150\u671f\u521d\u671f<\/td>AR<\/td><\/tr>
PLP1<\/td>\u75d9\u6027\u5bfe\u9ebb\u75fa\u3001\u30da\u30ea\u30bc\u30a6\u30b9\u30fb\u30e1\u30eb\u30c4\u30d0\u30c3\u30cf\u30fc\u75c5<\/td>XL<\/td><\/tr>
PNKP<\/td>\u3066\u3093\u304b\u3093\u6027\u8133\u75c7\u3001\u4e73\u5150\u671f\u65e9\u671f\u3001\u773c\u7403\u904b\u52d5\u5931\u8abf<\/td>AR<\/td><\/tr>
PNPO<\/td>\u30d4\u30ea\u30c9\u30ad\u30b5\u30df\u30f3 5′-\u30ea\u30f3\u9178\u30aa\u30ad\u30b7\u30c0\u30fc\u30bc\u6b20\u640d\u75c7<\/td>AR<\/td><\/tr>
POLG<\/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>AD\/AR<\/td><\/tr>
POLR3A<\/td>\u767d\u8cea\u30b8\u30b9\u30c8\u30ed\u30d5\u30a3\u30fc\u3001\u9ac4\u9798\u5f62\u6210\u4e0d\u5168<\/td>AR<\/td><\/tr>
POLR3B<\/td>\u767d\u8cea\u30b8\u30b9\u30c8\u30ed\u30d5\u30a3\u30fc\u3001\u9ac4\u9798\u5f62\u6210\u4e0d\u5168<\/td>AD\/AR<\/td><\/tr>
PPP2CA<\/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>AD<\/td><\/tr>
PPP3CA<\/td>\u3066\u3093\u304b\u3093\u6027\u8133\u75c7<\/td>AD<\/td><\/tr>
PPT1<\/td>\u30bb\u30ed\u30a4\u30c9\u30ea\u30dd\u30d5\u30b9\u30c1\u30f3\u75c7\u3001\u795e\u7d4c\u6027<\/td>AR<\/td><\/tr>
PRICKLE1<\/td>\u3066\u3093\u304b\u3093\u3001\u9032\u884c\u6027\u30df\u30aa\u30af\u30ed\u30cb\u30fc<\/td>AD\/AR<\/td><\/tr>
PRICKLE2<\/td><\/td>AD\/AR<\/td><\/tr>
PRIMA1<\/td>\u3066\u3093\u304b\u3093\u3001\u591c\u9593\u524d\u982d\u8449<\/td>AR<\/td><\/tr>
PRODH<\/td>\u9ad8\u30d7\u30ed\u30ea\u30f3\u8840\u75c7<\/td>AR<\/td><\/tr>
PROSC<\/td>\u3066\u3093\u304b\u3093<\/td>AR<\/td><\/tr>
PRRT2<\/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>AD<\/td><\/tr>
PRUNE<\/td><\/td><\/td><\/tr>
PSAP<\/td>\u30af\u30e9\u30c3\u30d9\u75c5\u3001\u975e\u5b9a\u578b\u3001\u30b5\u30dd\u30b7\u30f3-b\u6b20\u640d\u306b\u3088\u308b\u7570\u67d3\u6027\u767d\u8cea\u30b8\u30b9\u30c8\u30ed\u30d5\u30a3\u30fc\u3001\u8907\u5408\u578b\u30b5\u30dd\u30b7\u30f3\u6b20\u640d\u3001\u30b4\u30fc\u30b7\u30a7\u75c5\u3001\u975e\u5b9a\u578b\u3001\u30b5\u30dd\u30b7\u30f3C\u6b20\u640d\u306b\u3088\u308b<\/td>AD\/AR<\/td><\/tr>
PSAT1<\/td>\u30ce\u30a4\u30fb\u30e9\u30af\u30bd\u30d0\u75c7\u5019\u7fa4 2<\/td>AR<\/td><\/tr>
PTPN23<\/td>\u3066\u3093\u304b\u3093\u6027\u8133\u75c7<\/td>AR<\/td><\/tr>
PTS<\/td>\u9ad8\u30d5\u30a7\u30cb\u30eb\u30a2\u30e9\u30cb\u30f3\u8840\u75c7\u3001BH4\u6b20\u640d\u75c7<\/td>AR<\/td><\/tr>
PUM1<\/td>\u904b\u52d5\u5931\u8abf\u3001\u795e\u7d4c\u767a\u9054\u969c\u5bb3<\/td>AD<\/td><\/tr>
PURA<\/td>\u77e5\u7684\u767a\u9054\u969c\u5bb3<\/td>AD<\/td><\/tr>
PYCR2<\/td>\u767d\u8cea\u30b8\u30b9\u30c8\u30ed\u30d5\u30a3\u30fc\u3001\u9ac4\u9798\u5f62\u6210\u4e0d\u5168 10<\/td>AR<\/td><\/tr>
QARS<\/td>\u5c0f\u982d\u75c7\u3001\u9032\u884c\u6027\u3001\u767a\u4f5c\u3001\u5927\u8133\u304a\u3088\u3073\u5c0f\u8133\u306e\u840e\u7e2e<\/td>AR<\/td><\/tr>
QDPR<\/td>\u9ad8\u30d5\u30a7\u30cb\u30eb\u30a2\u30e9\u30cb\u30f3\u8840\u75c7\u3001BH4\u6b20\u640d\u75c7<\/td>AR<\/td><\/tr>
RAB11A<\/td><\/td><\/td><\/tr>
RAB11B<\/td><\/td><\/td><\/tr>
RAB39B<\/td>\u30ef\u30a4\u30ba\u30de\u30f3\u30fb\u30d1\u30fc\u30ad\u30f3\u30bd\u30f3\u75c5\u30fb\u7cbe\u795e\u9045\u6ede\u75c7\u5019\u7fa4\u3001\u77e5\u7684\u767a\u9054\u969c\u5bb3<\/td>XL<\/td><\/tr>
RALA<\/td>\u77e5\u7684\u767a\u9054\u969c\u5bb3<\/td>AD<\/td><\/tr>
RARS<\/td>\u767d\u8cea\u30b8\u30b9\u30c8\u30ed\u30d5\u30a3\u30fc\u3001\u9ac4\u9798\u5f62\u6210\u4e0d\u5168 9<\/td>AR<\/td><\/tr>
RELN<\/td>\u6ed1\u8133\u75c7\u3001\u3066\u3093\u304b\u3093\u3001\u5bb6\u65cf\u6027\u5074\u982d\u8449<\/td>AD\/AR<\/td><\/tr>
RHOBTB2<\/td>\u65e9\u671f\u4e73\u5150\u3066\u3093\u304b\u3093\u6027\u8133\u75c7<\/td>AD<\/td><\/tr>
RMND1<\/td>\u8907\u5408\u9178\u5316\u7684\u30ea\u30f3\u9178\u5316\u6b20\u640d\u75c7<\/td>AR<\/td><\/tr>
RNASEH2A<\/td>\u30a2\u30a4\u30ab\u30eb\u30c7\u30a3\u30fb\u30b0\u30c6\u30a3\u30a8\u30fc\u30eb\u75c7\u5019\u7fa4<\/td>AR<\/td><\/tr>
RNASEH2B<\/td>\u30a2\u30a4\u30ab\u30eb\u30c7\u30a3\u30fb\u30b0\u30c6\u30a3\u30a8\u30fc\u30eb\u75c7\u5019\u7fa4<\/td>AR<\/td><\/tr>
RNASEH2C<\/td>\u30a2\u30a4\u30ab\u30eb\u30c7\u30a3\u30fb\u30b0\u30c6\u30a3\u30a8\u30fc\u30eb\u75c7\u5019\u7fa4<\/td>AR<\/td><\/tr>
RNASET2<\/td>\u767d\u8cea\u8133\u75c7\u3001\u56a2\u80de\u6027\u3001\u5de8\u8133\u75c7\u3092\u4f34\u308f\u306a\u3044<\/td>AR<\/td><\/tr>
RNF13<\/td><\/td><\/td><\/tr>
RNF216<\/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>AR<\/td><\/tr>
ROGDI<\/td>\u30b3\u30fc\u30eb\u30b7\u30e5\u30c3\u30bf\u30fc\u30fb\u30c8\u30f3\u30c4\u75c7\u5019\u7fa4<\/td>AR<\/td><\/tr>
RORA<\/td><\/td>AD<\/td><\/tr>
RORB<\/td>\u3066\u3093\u304b\u3093<\/td>AD<\/td><\/tr>
RUSC2<\/td><\/td><\/td><\/tr>
SAMHD1<\/td>\u30a2\u30a4\u30ab\u30eb\u30c7\u30a3\u30fb\u30b0\u30c6\u30a3\u30a8\u30fc\u30eb\u75c7\u5019\u7fa4\u3001\u3057\u3082\u3084\u3051\u30eb\u30fc\u30d7\u30b92<\/td>AD\/AR<\/td><\/tr>
SCARB2<\/td>\u3066\u3093\u304b\u3093\u3001\u9032\u884c\u6027\u30df\u30aa\u30af\u30ed\u30cb\u30fc<\/td>AR<\/td><\/tr>
SCN1A<\/td>\u7247\u982d\u75db\u3001\u5bb6\u65cf\u6027\u7247\u9ebb\u75fa\u3001\u3066\u3093\u304b\u3093\u6027\u8133\u75c7\u3001\u4e73\u5150\u671f\u65e9\u671f\u3001\u71b1\u6027\u3051\u3044\u308c\u3093\u3092\u4f34\u3046\u5168\u822c\u6027\u3066\u3093\u304b\u3093\u30d7\u30e9\u30b9\u3001\u4e73\u5150\u671f\u3066\u3093\u304b\u3093\u6027\u8133\u75c76\u3001\u71b1\u6027\u3051\u3044\u308c\u3093\u3092\u4f34\u3046\u5168\u822c\u6027\u3066\u3093\u304b\u3093\u30012\u578b\u3001\u71b1\u6027\u3051\u3044\u308c\u3093\u3001\u5bb6\u65cf\u60273A<\/td>AD<\/td><\/tr>
SCN1B<\/td>\u5fc3\u623f\u7d30\u52d5\u3001\u30d6\u30eb\u30ac\u30c0\u75c7\u5019\u7fa4\u3001\u71b1\u6027\u3051\u3044\u308c\u3093\u3092\u4f34\u3046\u5168\u822c\u6027\u3066\u3093\u304b\u3093\u3001\u3066\u3093\u304b\u3093\u3001\u71b1\u6027\u3051\u3044\u308c\u3093\u3092\u4f34\u3046\u5168\u822c\u6027\u3066\u3093\u304b\u3093\u30011 \u578b\u3001\u3066\u3093\u304b\u3093\u6027\u8133\u75c7\u3001\u4e73\u5150\u65e9\u671f\u300152<\/td>AD<\/td><\/tr>
SCN2A<\/td>\u3066\u3093\u304b\u3093\u6027\u8133\u75c7\u3001\u65e9\u671f\u4e73\u5150\u3001\u767a\u4f5c\u3001\u826f\u6027\u5bb6\u65cf\u6027\u4e73\u5150<\/td>AD<\/td><\/tr>
SCN3A<\/td>\u3066\u3093\u304b\u3093\u3001\u3066\u3093\u304b\u3093\u6027\u8133\u75c7<\/td>AD<\/td><\/tr>
SCN8A<\/td>\u8a8d\u77e5\u969c\u5bb3\u3001\u3066\u3093\u304b\u3093\u6027\u8133\u75c7\u3001\u4e73\u5150\u671f\u65e9\u671f<\/td>AD<\/td><\/tr>
SCN9A<\/td>\u767a\u4f5c\u6027\u6975\u5ea6\u306e\u75bc\u75db\u969c\u5bb3\u3001\u5c0f\u7dda\u7dad\u6027\u795e\u7d4c\u969c\u5bb3\u3001\u7d05\u71b1\u75db\u3001\u539f\u767a\u6027\u3001\u71b1\u6027\u3051\u3044\u308c\u3093\u3092\u4f34\u3046\u5168\u822c\u6027\u3066\u3093\u304b\u3093\u30d7\u30e9\u30b9\u30017\u578b\u3001\u75bc\u75db\u306b\u5bfe\u3059\u308b\u4e0d\u611f\u53d7\u6027\u3001\u5148\u5929\u6027\u3001\u5e38\u67d3\u8272\u4f53\u52a3\u6027\u907a\u4f1d<\/td>AD\/AR<\/td><\/tr>
SCO1<\/td>\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2\u8907\u5408\u4f53IV\u6b20\u640d\u75c7<\/td>AR<\/td><\/tr>
SDHAF1<\/td>\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2\u8907\u5408\u4f53II\u6b20\u640d\u75c7<\/td>AR<\/td><\/tr>
SERAC1<\/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>AR<\/td><\/tr>
SERPINI1<\/td>\u30cb\u30e5\u30fc\u30ed\u30bb\u30eb\u30d4\u30f3\u5c01\u5165\u4f53\u3092\u4f34\u3046\u5bb6\u65cf\u6027\u8133\u75c7<\/td>AD<\/td><\/tr>
SETBP1<\/td>\u7cbe\u795e\u9045\u6ede\u3001\u5e38\u67d3\u8272\u4f53\u512a\u602729\u578b\u3001\u30b7\u30f3\u30c4\u30a7\u30eb\u30fb\u30ae\u30c7\u30a3\u30aa\u30f3\u4e2d\u9854\u9762\u5f8c\u9000\u75c7\u5019\u7fa4<\/td>AD<\/td><\/tr>
SETD1B<\/td>\u77e5\u7684\u969c\u5bb3\u3068\u767a\u4f5c<\/td>AD<\/td><\/tr>
SGSH<\/td>\u30e0\u30b3\u591a\u7cd6\u75c7\uff08\u30b5\u30f3\u30d5\u30a3\u30ea\u30c3\u30dd\u75c7\u5019\u7fa4\uff09<\/td>AR<\/td><\/tr>
SIK1<\/td>\u3066\u3093\u304b\u3093\u6027\u8133\u75c7\u3001\u4e73\u5150\u671f\u521d\u671f<\/td>AD<\/td><\/tr>
SLC12A5<\/td>\u3066\u3093\u304b\u3093\u6027\u8133\u75c7\u3001\u4e73\u5150\u671f\u521d\u671f<\/td>AD\/AR<\/td><\/tr>
SLC13A5<\/td>\u3066\u3093\u304b\u3093\u6027\u8133\u75c7\u3001\u4e73\u5150\u671f\u521d\u671f<\/td>AR<\/td><\/tr>
SLC19A3<\/td>\u30c1\u30a2\u30df\u30f3\u4ee3\u8b1d\u4e0d\u5168\u75c7\u5019\u7fa4<\/td>AR<\/td><\/tr>
SLC1A2<\/td>\u3066\u3093\u304b\u3093\u6027\u8133\u75c7\u3001\u4e73\u5150\u65e9\u671f\u300141<\/td><\/td><\/tr>
SLC1A4<\/td>\u75d9\u6027\u56db\u80a2\u9ebb\u75fa\u3001\u8133\u6881\u8584\u3044\u3001\u9032\u884c\u6027\u5c0f\u982d\u75c7<\/td>AR<\/td><\/tr>
SLC25A1<\/td>D-2-\u304a\u3088\u3073L-2-\u30d2\u30c9\u30ed\u30ad\u30b7\u30b0\u30eb\u30bf\u30eb\u9178\u5c3f\u306e\u8907\u5408<\/td>AR<\/td><\/tr>
SLC25A15<\/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>AR<\/td><\/tr>
SLC25A22<\/td>\u3066\u3093\u304b\u3093\u6027\u8133\u75c7\u3001\u4e73\u5150\u671f\u521d\u671f<\/td>AR<\/td><\/tr>
SLC25A42<\/td><\/td>AR<\/td><\/tr>
SLC2A1<\/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>AD\/AR<\/td><\/tr>
SLC35A1<\/td>\u5148\u5929\u6027\u30b0\u30ea\u30b3\u30b7\u30eb\u5316\u969c\u5bb3<\/td>AR<\/td><\/tr>
SLC35A2<\/td>\u5148\u5929\u6027\u30b0\u30ea\u30b3\u30b7\u30eb\u5316\u969c\u5bb3<\/td>XL<\/td><\/tr>
SLC39A8<\/td>\u5148\u5929\u6027\u30b0\u30ea\u30b3\u30b7\u30eb\u5316\u969c\u5bb3\u3001IIn\u578b<\/td>AR<\/td><\/tr>
SLC46A1<\/td>\u8449\u9178\u5438\u53ce\u4e0d\u826f<\/td>AR<\/td><\/tr>
SLC6A1<\/td>\u30df\u30aa\u30af\u30ed\u30cb\u30fc\u975e\u653e\u6563\u6027\u3066\u3093\u304b\u3093<\/td>AD<\/td><\/tr>
SLC6A5<\/td>\u904e\u30ec\u30af\u30d7\u30ec\u30b7\u30a2<\/td>AD\/AR<\/td><\/tr>
SLC6A8<\/td>\u30af\u30ec\u30a2\u30c1\u30f3\u6b20\u4e4f\u75c7\u75c7\u5019\u7fa4<\/td>XL<\/td><\/tr>
SLC9A6<\/td>\u7cbe\u795e\u8584\u5f31\u3001\u75c7\u5019\u7fa4\u3001\u30af\u30ea\u30b9\u30c1\u30e3\u30f3\u30bd\u30f3<\/td>XL<\/td><\/tr>
SMARCA2<\/td>\u30cb\u30b3\u30e9\u30a4\u30c7\u30b9\u30fb\u30d0\u30e9\u30a4\u30c4\u30a1\u30fc\u75c7\u5019\u7fa4<\/td>AD<\/td><\/tr>
SMC1A<\/td>\u30b3\u30eb\u30cd\u30fc\u30ea\u30a2\u30fb\u30c7\u30fb\u30e9\u30f3\u30b2\u75c7\u5019\u7fa4<\/td>XL<\/td><\/tr>
SMS<\/td>\u7cbe\u795e\u8584\u5f31\u3001\u30b9\u30ca\u30a4\u30c0\u30fc\u30fb\u30ed\u30d3\u30f3\u30bd\u30f3<\/td>XL<\/td><\/tr>
SNAP25<\/td>\u7b4b\u7121\u529b\u75c7\u5019\u7fa4\u3001\u5148\u5929\u6027<\/td>AD<\/td><\/tr>
SNORD118<\/td>\u767d\u8cea\u8133\u75c7\u3001\u8133\u77f3\u7070\u5316\u3001\u56a2\u80de\uff08\u30e9\u30d6\u30eb\u30fc\u30cc\u75c7\u5019\u7fa4\uff09<\/td>AR<\/td><\/tr>
SOX10<\/td>\u672b\u68a2\u6027\u8131\u9ac4\u6027\u795e\u7d4c\u969c\u5bb3\u3001\u4e2d\u67a2\u6027\u9ac4\u9798\u5f62\u6210\u4e0d\u5168\u3001\u30f4\u30a1\u30fc\u30c7\u30f3\u30d6\u30eb\u30b0\u75c7\u5019\u7fa4\u3001\u30d2\u30eb\u30b7\u30e5\u30b9\u30d7\u30eb\u30f3\u30b0\u75c5\u3001\u30ab\u30eb\u30de\u30f3\u75c7\u5019\u7fa4<\/td>AD<\/td><\/tr>
SPATA5<\/td>\u919c\u5f62\u76f8\u8c8c\u304a\u3088\u3073\u81ea\u9589\u75c7\u3092\u4f34\u3046\u307e\u305f\u306f\u4f34\u308f\u306a\u3044\u767a\u9054\u9045\u5ef6\u3001\u3066\u3093\u304b\u3093\u3001\u96e3\u8074\u3001\u7cbe\u795e\u9045\u6ede\u75c7\u5019\u7fa4\uff08EHLMRS\uff09<\/td>AR<\/td><\/tr>
SPTAN1<\/td>\u3066\u3093\u304b\u3093\u6027\u8133\u75c7\u3001\u4e73\u5150\u671f\u521d\u671f<\/td>AD<\/td><\/tr>
SPTBN4<\/td>\u30df\u30aa\u30d1\u30c1\u30fc\u3001\u5148\u5929\u6027\u3001\u795e\u7d4c\u969c\u5bb3\u3068\u96e3\u8074\u3092\u4f34\u3046<\/td>AR<\/td><\/tr>
SSR4<\/td>\u5148\u5929\u6027\u30b0\u30ea\u30b3\u30b7\u30eb\u5316\u969c\u5bb3<\/td>XL<\/td><\/tr>
ST3GAL3<\/td>\u3066\u3093\u304b\u3093\u6027\u8133\u75c7\u3001\u4e73\u5150\u671f\u65e9\u671f\u3001\u77e5\u7684\u767a\u9054\u969c\u5bb3<\/td>AR<\/td><\/tr>
ST3GAL5<\/td>\u30ac\u30f3\u30b0\u30ea\u30aa\u30b7\u30c9GM3\u5408\u6210\u9175\u7d20\u6b20\u640d\u75c7<\/td>AR<\/td><\/tr>
STRADA<\/td>\u7f8a\u6c34\u904e\u591a\u75c7\u3001\u5de8\u8133\u75c7\u3001\u75c7\u5019\u6027\u3066\u3093\u304b\u3093<\/td>AR<\/td><\/tr>
STX1B<\/td>\u71b1\u6027\u3051\u3044\u308c\u3093\u3092\u4f34\u3046\u5168\u822c\u6027\u3066\u3093\u304b\u3093\u306b\u52a0\u3048\u3066<\/td>AD<\/td><\/tr>
STXBP1<\/td>\u3066\u3093\u304b\u3093\u6027\u8133\u75c7\u3001\u4e73\u5150\u671f\u521d\u671f<\/td>AD<\/td><\/tr>
SUMF1<\/td>\u591a\u767a\u6027\u30b9\u30eb\u30d5\u30a1\u30bf\u30fc\u30bc\u6b20\u640d\u75c7<\/td>AR<\/td><\/tr>
SUOX<\/td>\u30b9\u30eb\u30db\u30b7\u30b9\u30c6\u30a4\u30f3\u5c3f\u75c7<\/td>AR<\/td><\/tr>
SYN1<\/td>\u3066\u3093\u304b\u3093\u3001\u3055\u307e\u3056\u307e\u306a\u5b66\u7fd2\u969c\u5bb3\u304a\u3088\u3073\u884c\u52d5\u969c\u5bb3\u3092\u4f34\u3046<\/td>XL<\/td><\/tr>
SYNGAP1<\/td>\u77e5\u7684\u767a\u9054\u969c\u5bb3<\/td>AD<\/td><\/tr>
SYNJ1<\/td>\u3066\u3093\u304b\u3093\u6027\u8133\u75c7\u3001\u4e73\u5150\u671f\u65e9\u671f\u300153 \u4eba\u3001\u30d1\u30fc\u30ad\u30f3\u30bd\u30f3\u75c5 20 \u4eba\u3001\u65e9\u671f\u767a\u75c7<\/td>AR<\/td><\/tr>
SZT2<\/td>\u3066\u3093\u304b\u3093\u6027\u8133\u75c7\u3001\u4e73\u5150\u671f\u521d\u671f<\/td>AR<\/td><\/tr>
TAF1<\/td>\u30b8\u30b9\u30c8\u30cb\u30a2 3\u3001\u637b\u8ee2\u3001X \u9023\u9396\u3001\u7cbe\u795e\u9045\u6ede\u3001X \u9023\u9396\u3001\u75c7\u5019\u7fa4 33<\/td>XL<\/td><\/tr>
TANGO2<\/td>\u6a2a\u7d0b\u7b4b\u878d\u89e3\u75c7\u3001\u4e0d\u6574\u8108\u3001\u795e\u7d4c\u5909\u6027\u3092\u4f34\u3046\u4ee3\u8b1d\u6027\u8133\u7b4b\u75c7\u6027\u5371\u6a5f\uff08MECRCN\uff09<\/td>AR<\/td><\/tr>
TBC1D20<\/td>\u30f4\u30a1\u30fc\u30eb\u30d6\u30eb\u30af\u30df\u30af\u30ed\u75c7\u5019\u7fa4 4<\/td>AR<\/td><\/tr>
TBC1D24<\/td>\u96e3\u8074\u3001\u722a\u30b8\u30b9\u30c8\u30ed\u30d5\u30a3\u30fc\u3001\u9aa8\u7570\u6804\u990a\u75c7\u3001\u7cbe\u795e\u9045\u6ede\u304a\u3088\u3073\u767a\u4f5c\uff08DOORS\uff09\u75c7\u5019\u7fa4\u3001\u96e3\u8074\u3001\u5e38\u67d3\u8272\u4f53\u512a\u6027\u907a\u4f1d\u300165 \u540d\u3001\u30df\u30aa\u30af\u30ed\u30cb\u30fc\u3066\u3093\u304b\u3093\u3001\u4e73\u5150\u3001\u5bb6\u65cf\u6027\u3001\u3066\u3093\u304b\u3093\u6027\u8133\u75c7\u3001\u4e73\u5150\u65e9\u671f\u300116 \u540d\u3001\u96e3\u8074\u3001\u5e38\u67d3\u8272\u4f53\u52a3\u6027\u907a\u4f1d 86 \u540d<\/td>AD\/AR<\/td><\/tr>
TBCD<\/td>\u8133\u840e\u7e2e\u3068\u8133\u6881\u306e\u8584\u5316\u3092\u4f34\u3046\u65e9\u671f\u767a\u75c7\u578b\u9032\u884c\u6027\u8133\u75c7\uff08PEBAT\uff09<\/td>AR<\/td><\/tr>
TBCE<\/td>\u7b4b\u840e\u7e2e\u304a\u3088\u3073\u8996\u795e\u7d4c\u840e\u7e2e\u3092\u4f34\u3046\u9032\u884c\u6027\u8133\u75c7\uff08PEAMO\uff09<\/td>AR<\/td><\/tr>
TBCK<\/td>\u4f4e\u8840\u5727\u3001\u5e7c\u5150\u3001\u7cbe\u795e\u904b\u52d5\u767a\u9054\u9045\u6ede\u304a\u3088\u3073\u7279\u5fb4\u7684\u306a\u9854\u8c8c\u3092\u4f34\u3046 3<\/td>AR<\/td><\/tr>
TBL1XR1<\/td>\u7cbe\u795e\u9045\u6ede\u3001\u5e38\u67d3\u8272\u4f53\u512a\u602741\u578b\u3001\u30d4\u30a2\u30dd\u30f3\u30c8\u75c7\u5019\u7fa4<\/td>AD<\/td><\/tr>
TCF4<\/td>\u89d2\u819c\u30b8\u30b9\u30c8\u30ed\u30d5\u30a3\u30fc\u3001\u30d5\u30c3\u30af\u30b9\u5185\u76ae\u3001\u30d4\u30c3\u30c8\u30fb\u30db\u30d7\u30ad\u30f3\u30b9\u75c7\u5019\u7fa4<\/td>AD<\/td><\/tr>
TK2<\/td>\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2 DNA \u67af\u6e07\u75c7\u5019\u7fa4<\/td>AR<\/td><\/tr>
TPK1<\/td>\u30c1\u30a2\u30df\u30f3\u4ee3\u8b1d\u6a5f\u80fd\u4e0d\u5168\u75c7\u5019\u7fa4 5<\/td>AR<\/td><\/tr>
TPP1<\/td>\u810a\u9ac4\u5c0f\u8133\u5931\u8abf\u75c7\u3001\u795e\u7d4c\u30bb\u30ed\u30a4\u30c9\u30ea\u30dd\u30d5\u30b9\u30c1\u30f3\u75c72\u578b<\/td>AR<\/td><\/tr>
TRAK1<\/td>\u3066\u3093\u304b\u3093\u6027\u8133\u75c7<\/td>AR<\/td><\/tr>
TREX1<\/td>\u8840\u7ba1\u969c\u5bb3\u3001\u7db2\u819c\u3001\u8133\u767d\u8cea\u30b8\u30b9\u30c8\u30ed\u30d5\u30a3\u30fc\u3092\u4f34\u3046\u3001\u3057\u3082\u3084\u3051\u30eb\u30fc\u30d7\u30b9\u3001\u30a2\u30a4\u30ab\u30eb\u30c7\u30a3\u30fb\u30b0\u30c6\u30a3\u30a8\u30fc\u30eb\u75c7\u5019\u7fa4<\/td>AD\/AR<\/td><\/tr>
TRIM8<\/td>\u3066\u3093\u304b\u3093\u6027\u8133\u75c7<\/td>AD<\/td><\/tr>
TRIT1<\/td>\u8907\u5408\u9178\u5316\u7684\u30ea\u30f3\u9178\u5316\u6b20\u640d\u75c7 35<\/td><\/td><\/tr>
TSC1<\/td>\u30ea\u30f3\u30d1\u7ba1\u5e73\u7b4b\u816b\u75c7\u3001\u7d50\u7bc0\u6027\u786c\u5316\u75c7<\/td>AD<\/td><\/tr>
TSC2<\/td>\u30ea\u30f3\u30d1\u7ba1\u5e73\u7b4b\u816b\u75c7\u3001\u7d50\u7bc0\u6027\u786c\u5316\u75c7<\/td>AD<\/td><\/tr>
TSFM<\/td>\u8907\u5408\u9178\u5316\u7684\u30ea\u30f3\u9178\u5316\u6b20\u640d\u75c7<\/td>AR<\/td><\/tr>
TTC19<\/td>\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2\u8907\u5408\u4f53III\u6b20\u640d\u75c7\u3001\u6838\u30bf\u30a4\u30d72<\/td>AR<\/td><\/tr>
TUBA1A<\/td>\u6ed1\u8133\u75c7<\/td>AD<\/td><\/tr>
TUBB2A<\/td>\u4ed6\u306e\u8133\u5947\u5f62\u3092\u4f34\u3046\u3001\u8907\u96d1\u306a\u76ae\u8cea\u7570\u5f62\u6210 5<\/td>AD<\/td><\/tr>
TUBB2B<\/td>\u591a\u767a\u6027\u5c0f\u8133\u56de\u3001\u975e\u5bfe\u79f0<\/td>AD<\/td><\/tr>
TUBB4A<\/td>\u767d\u8cea\u30b8\u30b9\u30c8\u30ed\u30d5\u30a3\u30fc\u3001\u9ac4\u9798\u5f62\u6210\u4e0d\u5168\u3001\u30b8\u30b9\u30c8\u30cb\u30a2<\/td>AD<\/td><\/tr>
UBA5<\/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>AR<\/td><\/tr>
UBE2A<\/td>\u7cbe\u795e\u9045\u6ede\u3001\u75c7\u5019\u7fa4\u3001\u30ca\u30b7\u30e1\u30f3\u30c8<\/td>XL<\/td><\/tr>
UBE3A<\/td>\u30a8\u30f3\u30b8\u30a7\u30eb\u30de\u30f3\u75c7\u5019\u7fa4<\/td>AD<\/td><\/tr>
UBTF<\/td>\u795e\u7d4c\u5909\u6027\u3001\u5c0f\u5150\u671f\u767a\u75c7\u3001\u8133\u840e\u7e2e\u3092\u4f34\u3046<\/td>AD<\/td><\/tr>
UNC80<\/td>\u4f4e\u8840\u5727\u3001\u5e7c\u5150\u3001\u7cbe\u795e\u904b\u52d5\u767a\u9054\u9045\u6ede\u304a\u3088\u3073\u7279\u5fb4\u7684\u306a\u9854\u8c8c\u3092\u4f34\u3046 2<\/td>AR<\/td><\/tr>
VAMP2<\/td><\/td>AD<\/td><\/tr>
VARS<\/td>\u8133\u840e\u7e2e\u304a\u3088\u3073\u8133\u6881\u83f2\u8584\u5316\u3092\u4f34\u3046\u65e9\u767a\u6027\u9032\u884c\u6027\u8133\u75c7\uff08PEBAT\uff09\u3001\u9032\u884c\u6027\u8133\u75c7<\/td>AR<\/td><\/tr>
VPS13A<\/td>\u821e\u8e0f\u76ae\u8868\u76ae\u75c7<\/td>AR<\/td><\/tr>
WARS2<\/td>\u8133\u75c7\u3001\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2<\/td>AR<\/td><\/tr>
WASF1<\/td>\u77e5\u7684\u969c\u5bb3\u3068\u767a\u4f5c<\/td>AD<\/td><\/tr>
WDR26<\/td>\u30b9\u30af\u30e9\u30d0\u30f3\u30fb\u30c7\u30a3\u30a2\u30c9\u30eb\u30d5\u75c7\u5019\u7fa4<\/td>AD<\/td><\/tr>
WDR45<\/td>\u8133\u306e\u9244\u84c4\u7a4d\u3092\u4f34\u3046\u795e\u7d4c\u5909\u6027<\/td>XL<\/td><\/tr>
WWOX<\/td>\u3066\u3093\u304b\u3093\u6027\u8133\u75c7\u3001\u4e73\u5150\u671f\u65e9\u671f\u3001\u810a\u9ac4\u5c0f\u8133\u5931\u8abf\u75c7<\/td>AR<\/td><\/tr>
YWHAG<\/td>\u3066\u3093\u304b\u3093\u6027\u8133\u75c7\u3001\u4e73\u5150\u65e9\u671f\u300156<\/td><\/td><\/tr>
YY1<\/td>\u30ac\u30d6\u30ea\u30a8\u30eb\u30fb\u30c9\u30fb\u30d5\u30ea\u30fc\u30b9\u75c7\u5019\u7fa4 (GADEVS)<\/td>AD<\/td><\/tr>
ZDHHC9<\/td>\u7cbe\u795e\u9045\u6ede\u3001\u75c7\u5019\u7fa4\u3001\u30ec\u30a4\u30e2\u30f3\u30c9<\/td>XL<\/td><\/tr>
ZEB2<\/td>\u30e2\u30ef\u30c3\u30c8\u30fb\u30a6\u30a3\u30eb\u30bd\u30f3\u75c7\u5019\u7fa4<\/td>AD<\/td><\/tr>
ZFYVE26<\/td>\u75d9\u6027\u5bfe\u9ebb\u75fa 15<\/td>AR<\/td><\/tr>
ZNHIT3<\/td>PEHO\u75c7\u5019\u7fa4<\/td><\/td><\/tr>
ZSWIM6<\/td>\u5148\u7aef\u90e8\u524d\u9f3b\u8154\u9aa8\u7570\u5f62\u6210\u75c7<\/td>AD<\/td><\/tr><\/tbody><\/table><\/figure>\n

\u8a73\u3057\u304f\u306f \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-191","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\/191","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\/191\/revisions"}],"predecessor-version":[{"id":192,"href":"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-json\/wp\/v2\/disease\/191\/revisions\/192"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-json\/wp\/v2\/media?parent=191"}],"wp:term":[{"taxonomy":"disease-category","embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-json\/wp\/v2\/disease-category?post=191"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}