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Gene ID | 象征 | Synonyms | 官方全名 | Location | SZ组? | 功能小组? |
---|---|---|---|---|---|---|
51703 | ACSL5 | ACS2 | ACS5 | FACL5 | 酰基-COA合成酶长链家庭成员5 | 10q25.2 | CV:PGCnp DNM:Fromer_2014 |
CompositeSet |
1892 | echs1 | echs1d |SCEH | Enoyl-COA水合物,短链,1,线粒体 | 10q26.2-q26.3 | CV:PGCnp GSMA_IIA Network |
|
3611 | ILK | HEL-S-28 |ilk-1 |ilk-2 |P59 |P59ILK | 整合素链接激酶 | 11P15.4 | CV:PGCnp Network |
|
7140 | TNNT3 | TNTF | 肌钙蛋白T3,快速骨骼类型 | 11P15.5 | CV:PGCnp DMG:Wockner_2014 |
|
5837 | pygm | - | 磷酸化酶,糖原,肌肉 | 11q12-q13.2 | DMG:Wockner_2014 PMID:cooccur |
|
710 | Serping1 | c1in |C1inh |C1NH |hae1 |hae2 | serpin peptidase inhibitor, clade G (C1 inhibitor), member 1 | 11q12.1 | CV:PGCnp 表达 |
|
5091 | 个人电脑 | PCB | 丙酮酸羧化酶 | 11q13.4-Q13.5 | CV:PGCnp PMID:cooccur |
G2CDB.HUMAN_MITOCHONDRIA g2cdb.humanpsd G2CDB.HUMANPSP |
10632 | ATP5L | ATP5JG | ATP合酶,H+转运,线粒体FO复合物亚基G | 11q23.3 | 表达 GSMA_I |
|
50515 | CHST11 | C4ST | C4ST-1 | C4ST1 | HSA269537 | 碳水化合物(软骨素4)磺胺转移酶11 | 12q | CV:GWASdb CV:PGCnp DMG:Wockner_2014 |
|
2735 | Gli1 | GLI | GLI家庭锌指1 | 12q13.3 | CV:PGCnp | |
7337 | UBE3A | ancr |AS |e6-ap |epve6ap |HPVE6A | 泛素蛋白连接酶E3A | 15Q11.2 | CNV:是的 CV:PGCnp DMG:Nishioka_2013 go_annotation PMID:cooccur |
|
567 | B2M | IMD43 | β-2-微球蛋白 | 15Q21.1 | CV:PGCnp PMID:cooccur |
|
51451 | LCMT1 | CGI-68 |LCMT |ppmt1 | leucine carboxyl methyltransferase 1 | 16p12.1 | CV:PGCnp DMG:JAFFE_2016 DMG:Wockner_2014 gsma_iie |
|
5310 | PKD1 | PBP |PC-1 |TRPP1 | polycystin 1, transient receptor potential channel interacting | 16p13.3 | CV:PGCnp DMG:Wockner_2014 go_annotation |
CompositeSet Darnell FMRP目标 Ascano FMRP目标 |
11060 | WWP2 | AIP2 |像WWP2一样 | 含有E3泛素蛋白连接酶2的WW结构域2 | 16Q22.1 | CV:PGCnp DMG:Wockner_2014 |
|
3240 | 生命值 | bp |hp2alpha2 |HPA1S | Haptoglobin | 16Q22.2 | 协会 Core CV:PGCnp DMG:Vaneijk_2014 go_annotation gr_ng gr_wm Network PMID:cooccur |
|
4239 | MFAP4 | - | 微纤维相关蛋白4 | 17p11.2 | CV:PGCnp go_annotation |
|
5598 | MAPK7 | BMK1 |ERK4 |ERK5 |PRKM7 | 有丝分裂原激活的蛋白激酶7 | 17p11.2 | CV:PGCnp | Ascano FMRP目标 |
8557 | TCAP | CMD1N |CMH25 |lgmd2g |t-cap |电视|telethonin | 滴定帽 | 17q12 | CV:PGCnp Network |
|
11072 | DUSP14 | MKP-L | MKP6 | 双重特异性磷酸酶14 | 17q12 | CNV:是的 CV:PGCnp DMG:JAFFE_2016 DMG:Wockner_2014 |
|
2194 | Fasn | fas |OA-519 |SDR27X1 | 脂肪酸合酶 | 17Q25 | CV:PGCnp DMG:JAFFE_2016 PMID:cooccur |
细胞代谢 G2Cdb.human_BAYES-COLLINS-HUMAN-PSD-CONSENSUS G2CDB.HUMAN_BAYES-COLLINS-HUMAN-PSD-FULL g2cdb.humanpsd G2CDB.HUMANPSP CompositeSet Darnell FMRP目标 |
2548 | GAA | Lyag | 葡萄糖酶,α;酸 | 17Q25.2-Q25.3 | PMID:cooccur | |
4089 | SMAD4 | DPC4 |jip |madh4 |myhrs | SMAD家庭成员4 | 18q21.1 | CV:PGCnp DMG:JAFFE_2016 DMG:Nishioka_2013 Network PMID:cooccur |
|
5802 | PTPR | ptpsigma | 蛋白酪氨酸磷酸酶,受体型S型 | 19p13.3 | CV:GWASdb CV:PGCnp DMG:JAFFE_2016 Network |
酪氨酸激酶信号传导 G2Cdb.human_BAYES-COLLINS-HUMAN-PSD-CONSENSUS G2CDB.HUMAN_BAYES-COLLINS-HUMAN-PSD-FULL G2CDB.HUMAN_BAYES-COLLINS-MOUSE-PSD-CONSUS g2cdb.humanpsd G2CDB.HUMANPSP CompositeSet Darnell FMRP目标 Ascano FMRP目标 |
166 | AES | AES-1 |AES-2 |ESP1 |grg |grg5 |GRG-5 |TLE5 | 分裂的氨基末端增强子 | 19p13.3 | CV:PGCnp PMID:cooccur |
|
718 | C3 | ahus5 |Armd9 |ASP |C3A |C3B |CPAMD1 |HEL-S-62P | complement component 3 | 19p13.3-p13.2 | 协会 CV:PGCnp go_annotation gr_ng gr_wm PMID:cooccur |
|
4059 | BCAM | au |CD239 |lu |MSK19 | 基底细胞粘附分子(路德教会血型) | 19q13.2 | DMG:Wockner_2014 | |
5296 | PIK3R2 | mpph |mpph1 |P85B |P85 |p85-beta | phosphoinositide-3-kinase regulatory subunit 2 | 19q13.2-q13.4 | CV:PGCnp DMG:Wockner_2014 Network |
|
6195 | RPS6KA1 | Hu-1 |mapkapk1a |RSK |RSK1 |p90rsk | 核糖体蛋白S6激酶A1 | 1p | CV:PGCnp DMG:Montano_2016 DMG:Nishioka_2013 |
|
6342 | SCP2 | NLTP |NSL-TP |SCP-2 |scp-chi |SCP-X |SCPX | 固醇载体蛋白2 | 132 | CV:PGCnp DMG:Wockner_2014 |
|
533 | ATP6V0B | atp6f |Hatpl |VMA16 | ATPase H+运输V0亚基B | 1p32.3 | CV:PGCnp | |
5792 | ptprf | bnah2 |拉尔 | 蛋白酪氨酸磷酸酶,受体型F | 134 | 简历:Gwascat 简历:PGC128 CV:PGCnp DMG:Wockner_2014 DNM:Fromer_2014 PMID:cooccur |
G2CDB.HUMAN_BAYES-COLLINS-HUMAN-PSD-FULL g2cdb.humanpsd G2CDB.HUMANPSP CompositeSet Darnell FMRP目标 Ascano FMRP目标 潜在的突触基因 |
3925 | STMN1 | C1orf215 |lap18 |滞后|OP18 |pp17 |pp19 |PR22 |SMN | Stathmin 1 | 1p36.11 | CV:PGCnp go_annotation PMID:cooccur |
结构可塑性 |
712 | C1QA | - | 补体组件1,Q子组件,链 | 1p36.12 | CV:PGCnp PMID:cooccur |
|
10628 | txnip | EST01027 |HHCPA78 |thif |VDUP1 | 硫氧还蛋白相互作用的蛋白质 | 1q21.1 | CNV:是的 CV:PGCnp 表达 gr_ng GSMA_I GSMA_IIA |
|
947 | CD34 | - | CD34molecule | 1q32 | CV:GWASdb CV:PGCnp PMID:cooccur |
|
5664 | PSEN2 | AD3L | AD4 | CMD1V | PS2 | STM2 | Presenilin 2 | 1 q42.13 | CV:PGCnp Network PMID:cooccur |
神经营养蛋白信号传导 |
2139 | EYA2 | EAB1 | EYA transcriptional coactivator and phosphatase 2 | 20q13.1 | CV:GWASdb CV:PGCnp DMG:JAFFE_2016 |
|
1292 | COL6A2 | bthlm1 |pp3610 |UCMD1 | 胶原型VI Alpha 2 | 21q22.3 | CV:PGCnp DNM:Fromer_2014 |
CompositeSet |
4151 | MB | PVALB |Myoglobgin | myoglobin | 22q13.1 | CV:PGCnp DMG:Wockner_2014 PMID:cooccur |
|
6711 | SPTBN1 | ELF | HEL102 | SPTB2 | betaSpII | Spectrin beta,非肉毒细胞1 | 2P21 | CV:GWASdb CV:PGCnp Network |
结构可塑性 G2Cdb.human_BAYES-COLLINS-HUMAN-PSD-CONSENSUS G2CDB.HUMAN_BAYES-COLLINS-HUMAN-PSD-FULL G2CDB.HUMAN_BAYES-COLLINS-MOUSE-PSD-CONSUS g2cdb.human_pocklingtonh1 G2CDB.HUMAN_TAP-PSD-95核 G2CDB.HUMANNRC CompositeSet Darnell FMRP目标 Ascano FMRP目标 潜在的突触基因 |
5500 | PPP1CB | HEL-S-80p | PP-1B | PP1B | PP1beta | PPP1CD | protein phosphatase 1 catalytic subunit beta | 2P23 | CV:PGCnp | 细胞内信号转导 G2Cdb.human_BAYES-COLLINS-HUMAN-PSD-CONSENSUS G2CDB.HUMAN_BAYES-COLLINS-HUMAN-PSD-FULL G2CDB.HUMAN_BAYES-COLLINS-MOUSE-PSD-CONSUS g2cdb.humanpsd G2CDB.HUMANPSP CompositeSet 染色质重塑基因 |
1281 | COL3A1 | EDS4A | 胶原型IIIα1 | 2q31 | CV:PGCnp DNM:XU_2012 |
CompositeSet |
8828 | NRP2 | NP2 |NPN2 |Pro2714 |VEGF165R2 | Neuropilin 2 | 2q33.3 | CV:PGCnp DMG:JAFFE_2016 go_annotation GSMA_IIA gsma_iie |
Ascano FMRP目标 |
1674 | DES | CSM1 |CSM2 |LGMD2R | Desmin | 2q35 | CV:PGCnp gr_ng GSMA_IIA gsma_iie PMID:cooccur |
G2CDB.HUMAN_BAYES-COLLINS-HUMAN-PSD-FULL G2CDB.HUMAN_BAYES-COLLINS-MOUSE-PSD-CONSUS |
3913 | LAMB2 | 羔羊|NPHS5 | laminin subunit beta 2 | 3P21 | CV:PGCnp go_annotation |
|
2049 | EPHB3 | ETK2 |hek2 |Tyro6 | EPH receptor B3 | 3q27.1 | CV:PGCnp DNM:Fromer_2014 go_annotation |
|
5156 | PDGFRA | CD140A |GAS9 |PDGFR-2 |PDGFR2 |Rhepdgfra | platelet derived growth factor receptor alpha | 4Q12 | CV:GWASdb CV:PGCnp 简历:Phewas DMG:JAFFE_2016 |
|
51294 | PCDH12 | VE-Cadherin-2 |Vecad2 | 原钙粘蛋白12 | 5Q31 | 表达 go_annotation GSMA_I PMID:cooccur |
|
9547 | CXCL14 | BMAC |brak |Kec |KS1 |MIP-2G |MIP2G |njac |SCYB14 | C-X-C序列趋化因子配体14 | 5Q31 | CV:PGCnp DMG:Wockner_2014 GSMA_I |
|
2878 | GPX3 | GPX-P |GSHPX-3 |GSHPX-P | 谷胱甘肽过氧化物酶3 | 5q33.1 | CV:GWASdb CV:PGCnp GSMA_I GSMA_IIA gsma_iie PMID:cooccur |
|
667 | dst | BP240 | BPA | BPAG1 | CATX-15 | CATX15 | D6S1101 | DMH | DT | EBSB2 | HSAN6 | MACF2 | dunstonin | 6p12.1 | CV:GWASdb CV:PGCnp DMG:Wockner_2014 go_annotation gsma_iie Network PMID:cooccur |
G2Cdb.human_BAYES-COLLINS-HUMAN-PSD-CONSENSUS G2CDB.HUMAN_BAYES-COLLINS-HUMAN-PSD-FULL G2CDB.HUMAN_BAYES-COLLINS-MOUSE-PSD-CONSUS CompositeSet Darnell FMRP目标 Ascano FMRP目标 |
2968 | GTF2H4 | P52 | TFB2 | TFIIH | 一般转录因子IIH亚基4 | 6p21.3 | CV:PGCnp DMG:JAFFE_2016 GSMA_I |
|
6785 | Elovl4 | ADMD |CT118 |ISQMR |SCA34 |stgd2 |STGD3 | ELOVL fatty acid elongase 4 | 6Q14 | CV:PGCnp DMG:Wockner_2014 |
|
2697 | GJA1 | AVSD3 |cmdr |CX43 |EKVP |Gjal |HLHS1 |HSS |奇数|ppkca | gap junction protein alpha 1 | 6Q22.31 | CV:PGCnp DMG:Wockner_2014 Network |
离子平衡 G2Cdb.human_BAYES-COLLINS-HUMAN-PSD-CONSENSUS G2CDB.HUMAN_BAYES-COLLINS-HUMAN-PSD-FULL G2CDB.HUMAN_BAYES-COLLINS-MOUSE-PSD-CONSUS CompositeSet |
1523 | CUX1 | CASP |CDP |CDP/CUT |CDP1 |coy1 |cutl1 |Cux |clox |CUX/CDP |golim6 | Nbla10317 | p100 | p110 | p200 | p75 | 像同型ox 1 | 7Q22.1 | CV:GWASdb CV:PGCnp DMG:JAFFE_2016 DMG:Wockner_2014 |
CompositeSet Darnell FMRP目标 Ascano FMRP目标 |
7791 | Zyx | ESP-2 |hed-2 | Zyxin | 7q32 | CV:PGCnp DMG:Wockner_2014 Network |
|
2041 | epha1 | 以|Epht |Epht1 | EPH receptor A1 | 7Q34 | DMG:Wockner_2014 | |
649 | BMP1 | OI13 |PCOLC |PCP |pcp2 |tld | 骨形态发生蛋白1 | 8p21.3 | CV:PGCnp GSMA_I GSMA_IIA gsma_iie |
|
7169 | TPM2 | AMCD1 |DA1 |DA2B |HEL-S-273 |Nem4 |TMSB | 肌球蛋白2(beta) | 9p13 | CV:PGCnp DMG:Vaneijk_2014 Network |
G2CDB.HUMAN_CLATHRIN g2cdb.human_synaptosom |
1384 | 克拉特 | CAT1 | 肉碱O-乙酰转移酶 | 9q34.1 | CV:PGCnp | |
1947年 | EFNB1 | CFND | CFNS | EFB1 | EFL3 | EPLG2 | Elk-L | LERK2 | ephrin-B1 | XQ12 | 简历:Gwascat 简历:PGC128 CV:PGCnp go_annotation Network |
|
2182 | ACSL4 | ACS4 | FACL4 | LACS4 | MRX63 | MRX68 | 酰基-COA合成酶长链家族成员4 | XQ22.3-Q23 | CV:PGCnp DNM:Fromer_2014 |
CompositeSet 潜在的突触基因 |
7319 | UBE2A | HHR6A |MRXS30 |mrxsn |rad6a |UBC2 | 泛素结合酶E2 A | Xq24 | CV:PGCnp PMID:cooccur |
|