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Gene ID | 象征 | Synonyms | Official Full Name | Location | SZ组? | 功能小组? |
---|---|---|---|---|---|---|
220213 | OTUD1 | DUBA7 | OTDC1 | OTU deubiquitinase 1 | 10p12.2 | CV:PGCnp | |
59 | ACTA2 | AAT6 | ACTSA | MYMY5 | actin, alpha 2, smooth muscle, aorta | 10q23.3 | CV:PGCnp DMG:JAFFE_2016 DNM:Fromer_2014 |
CompositeSet |
9409 | PEX16 | PBD8A | PBD8B | 过氧化物酶体生物发生因子16 | 11p11.2 | CV:PGCnp | |
55626 | Ambra1 | DCAF3 |WDR94 | autophagy/beclin-1 regulator 1 | 11p11.2 | CV:GWASdb CV:PGCnp GO_Annotation PMID:cooccur |
|
91252 | SLC39A13 | LZT-HS9 | solute carrier family 39 member 13 | 11p11.2 | CV:GWASdb CV:PGCnp DNM:Kranz_2015 PMID:cooccur |
|
10944 | C11orf58 | IMAGE145052 | SMAP | 染色体11开放阅读框58 | 11P15.1 | CV:PGCnp | |
9024 | brsk2 | C11orf7 |PEN11B |sad1 |萨达|STK29 | BR serine/threonine kinase 2 | 11P15.5 | CV:PGCnp DMG:JAFFE_2016 DMG:Wockner_2014 GO_Annotation |
CompositeSet 达内尔FMRP目标 |
402 | arl2 | ARFL2 | ADP核糖基化因子,例如GTPase 2 | 11q13 | DMG:Nishioka_2013 DMG:Wockner_2014 |
|
57124 | CD248 | CD164L1 |tem1 | CD248分子 | 11q13 | CV:PGCnp DMG:Wockner_2014 |
|
7439 | 最好的1 | ARB | BEST | BMD | RP50 | TU15B | VMD2 | bestrophin 1 | 11q13 | CV:PGCnp DEG:Zhao_2015 |
|
116985 | ARAP1 | CENTD2 | 带有rhogap结构域的ARFGAP,Ankyrin重复和pH结构域1 | 11q13.4 | CV:GWASdb CV:PGCnp DNM:Fromer_2014 GO_Annotation |
CompositeSet Ascano FMRP targets |
6660 | SOX5 | L-SOX5 |L-SOX5B |L-SOX5F |LAMSHF | SRY-box 5 | 12p12.1 | CV:PGCnp DMG:JAFFE_2016 DMG:Wockner_2014 PMID:cooccur |
|
29127 | RACGAP1 | CYK4 | HsCYK-4 | ID-GAP | MgcRacGAP | RAC GTPase激活蛋白1 | 12q13.12 | CV:GWASdb CV:PGCnp GO_Annotation |
|
23426 | GRIP1 | GRIP | glutamate receptor interacting protein 1 | 12q14.3 | CV:PGCnp GO_Annotation PMID:cooccur |
G2Cdb.human_mGluR5 Ascano FMRP targets 潜在的突触基因 |
8562 | DENR | DRP | DRP1 | SMAP-3 | 密度调节的蛋白质 | 12q24.31 | CV:PGCnp DMG:JAFFE_2016 |
|
79676 | OGFOD2 | - | 2-oxoglutarate and iron dependent oxygenase domain containing 2 | 12q24.31 | CV:PGCnp LK:YES |
|
84932 | rab2b | - | Rab2b,Ras Oncogene家族成员 | 14Q11.2 | CV:PGCnp DMG:JAFFE_2016 DMG:Nishioka_2013 表达 GSMA_I |
|
2954 | GSTZ1 | GSTZ1-1 | MAAI | MAI | 谷胱甘肽S-转移酶Zeta 1 | 14Q24.3 | CV:PGCnp DMG:JAFFE_2016 DMG:Nishioka_2013 PMID:cooccur |
|
5641 | LGMN | AEP |lgmn1 |PRSC1 | legumain | 14q32.1 | CV:PGCnp DMG:Nishioka_2013 DMG:Wockner_2014 |
|
51621 | KLF13 | BTEB3 | FKLF2 | NSLP1 | RFLAT-1 | RFLAT1 | Kruppel-like factor 13 | 15q12 | CNV:YES CV:GWASdb CV:PGCnp DMG:Montano_2016 DMG:Wockner_2014 PMID:cooccur |
|
7301 | Tyro3 | BYK | Dtk | Etk-2 | RSE | Rek | Sky | Tif | Tyro3protein tyrosine kinase | 15q15 | CV:PGCnp GO_Annotation PMID:cooccur |
|
5607 | MAP2K5 | HST17454 |MAPKK5 |mek5 |prkmk5 | mitogen-activated protein kinase kinase 5 | 15q23 | CV:PGCnp | |
597 | BCL2A1 | ACC-1 | ACC-2 | ACC1 | ACC2 | BCL2L5 | BFL1 | GRS | HBPA1 | BCL2 related protein A1 | 15q24.3 | CV:GWASdb CV:PGCnp |
|
4122 | MAN2A2 | mana2x | 甘露糖苷酶Alpha 2A成员2 | 15q26.1 | CV:PGCnp | CompositeSet 达内尔FMRP目标 |
23475 | QPRT | HEL-S-90n | QPRTase | quinolinate phosphoribosyltransferase | 16p11.2 | CNV:YES CV:PGCnp DMG:Wockner_2014 gsma_iie PMID:cooccur |
|
83723 | FAM57B | FP1188 | 具有序列相似性的家庭57成员b | 16p11.2 | CNV:YES CV:PGCnp gsma_iie |
|
23162 | MAPK8IP3 | JIP-3 |JIP3 |JSAP1 |syd2 |Syd | 有丝分裂原激活的蛋白激酶8相互作用蛋白3 | 16p13.3 | CV:PGCnp DMG:Wockner_2014 |
INTRACELLULAR SIGNAL TRANSDUCTION CompositeSet 达内尔FMRP目标 |
4489 | MT1A | MT1 | MT1S | MTC | 金属硫蛋白1a | 16Q13 | CV:PGCnp DMG:Wockner_2014 |
|
2775 | GNAO1 | EIEE17 | G-ALPHA-o | GNAO | G protein subunit alpha o1 | 16Q13 | Association CV:PGCnp DMG:Nishioka_2013 DNM:XU_2012 GO_Annotation Network PMID:cooccur |
G蛋白继电器 G2Cdb.human_BAYES-COLLINS-HUMAN-PSD-CONSENSUS G2CDB.HUMAN_BAYES-COLLINS-HUMAN-PSD-FULL G2CDB.HUMAN_BAYES-COLLINS-MOUSE-PSD-CONSUS G2CDB.HUMAN_CLATHRIN G2Cdb.human_mGluR5 g2cdb.human_synaptosom G2CDB.HUMAN_TAP-PSD-95核 G2Cdb.humanPSD G2Cdb.humanPSP CompositeSet 达内尔FMRP目标 潜在的突触基因 |
57546 | PDP2 | PPM2B | PPM2C2 | 丙酮酸脱基酸酯酶磷酸酶催化亚基2 | 16q22.1 | CV:PGCnp | |
58191 | CXCL16 | CXCLG16 |SR-PSOX |SRPSOX | C-X-C motif chemokine ligand 16 | 17p13 | PMID:cooccur | |
84268 | RPAIN | hrip |RIP | RPA相互作用蛋白 | 17p13.2 | CV:PGCnp DMG:JAFFE_2016 |
|
10693 | CCT6B | CCT-ZETA-2 |CCTZ-2 |CCTZ2 |TCP-1-Zeta-2 |TSA303 | 伴侣蛋白包含TCP1亚基6B | 17q12 | CV:PGCnp DMG:JAFFE_2016 |
|
91603 | ZNF830 | CCDC16 | OMCG1 | 锌指蛋白830 | 17q12 | CV:PGCnp DMG:JAFFE_2016 |
|
6426 | SRSF1 | ASF |SF2 |sf2p33 |SFRS1 |SRP30A | serine/arginine-rich splicing factor 1 | 17q22 | CV:PGCnp DMG:JAFFE_2016 PMID:cooccur |
|
10458 | BAIAP2 | BAP2 | FLAF3 | IRSP53 | BAI1相关蛋白2 | 17Q25 | CV:PGCnp DNM:Fromer_2014 GO_Annotation PMID:cooccur |
INTRACELLULAR SIGNAL TRANSDUCTION G2Cdb.human_BAYES-COLLINS-HUMAN-PSD-CONSENSUS G2CDB.HUMAN_BAYES-COLLINS-HUMAN-PSD-FULL G2CDB.HUMAN_BAYES-COLLINS-MOUSE-PSD-CONSUS G2CDB.HUMAN_TAP-PSD-95核 G2Cdb.humanPSD G2Cdb.humanPSP CompositeSet 潜在的突触基因 |
11201 | POLI | RAD30B | RAD3OB | 聚合酶(DNA)IOTA | 18q21.1 | CV:PGCnp PMID:cooccur |
|
1463 | ncan | CSPG3 | neurocan | 19p12 | CV:PGCnp DMG:JAFFE_2016 DNM:Gulsuner_2013 LK:YES PMID:cooccur |
CELL ADHESION AND TRANSSYNAPTIC SIGNALING G2Cdb.human_BAYES-COLLINS-HUMAN-PSD-CONSENSUS G2CDB.HUMAN_BAYES-COLLINS-HUMAN-PSD-FULL G2CDB.HUMAN_BAYES-COLLINS-MOUSE-PSD-CONSUS CompositeSet 达内尔FMRP目标 |
83983 | TSSK6 | CT72 | FKSG82 | SSTK | TSSK4 | testis specific serine kinase 6 | 19p13.11 | CV:PGCnp LK:YES |
|
55621 | TRMT1 | TRM1 | tRNA甲基转移酶1 | 19p13.2 | CV:PGCnp | |
90480 | GADD45GIP1 | CKBBP2 |ckbetabp2 |crif1 |MRP-L59 |plinp |plinp-1 |prg6 |plinp1 | GADD45G相互作用蛋白1 | 19p13.2 | CV:PGCnp | |
3383 | ICAM1 | BB2 |CD54 |P3.58 | intercellular adhesion molecule 1 | 19p13.2 | CV:PGCnp 简历:Phewas DMG:Wockner_2014 DNM:McCarthy_2014 |
|
8425 | LTBP4 | arcl1c |LTBP-4 |LTBP4L |LTBP4 | 潜在转化生长因子β结合蛋白4 | 19Q13.1-Q13.2 | CV:PGCnp DMG:Wockner_2014 |
Ascano FMRP targets |
5184 | PEPD | PROLIDASE | peptidase D | 19q13.11 | CV:GWASdb CV:PGCnp DMG:JAFFE_2016 PMID:cooccur |
|
348 | APOE | AD2 | APO-E | LDLCQ5 | LPG | apolipoprotein E | 19q13.2 | Association Core GO_Annotation gr_cor gr_ng GR_WM Network PMID:cooccur |
细胞代谢 CompositeSet 达内尔FMRP目标 |
339327 | ZNF546 | ZNF49 | 锌指蛋白546 | 19q13.2 | CV:PGCnp DEG:Zhao_2015 |
|
54922 | RASIP1 | RAIN | Ras interacting protein 1 | 19q13.33 | CV:PGCnp | |
57535 | KIAA1324 | EIG121 | KIAA1324 | 1p13.3 | CV:PGCnp DMG:Wockner_2014 |
|
8761 | PABPC4 | App-1 |App1 |PABP4 |ipabp | 聚(A)结合蛋白,细胞质4(诱导形式) | 1p34.2 | CV:PGCnp | G2CDB.HUMAN_BAYES-COLLINS-HUMAN-PSD-FULL |
284654 | RSPO1 | cristin3 |RSPO | R-spondin 1 | 1p34.3 | CV:PGCnp DMG:JAFFE_2016 |
|
51441 | ythdf2 | CAHL | HGRG8 | NY-REN-2 | YTH N(6)-methyladenosine RNA binding protein 2 | 135 | CV:PGCnp | |
10277 | UBE4B | E4 | HDNB1 | UBOX3 | UFD2 | UFD2A | ubiquitination factor E4B | 1p36.3 | CV:PGCnp DMG:JAFFE_2016 |
|
7170 | TPM3 | CAPM1 | CFTD | HEL-189 | HEL-S-82p | NEM1 | OK/SW-cl.5 | TM-5 | TM3 | TM30 | TM30nm | TM5 | TPMsk3 | TRK | hscp30 | tropomyosin 3 | 1q21.2 | CV:PGCnp DMG:Wockner_2014 GO_Annotation GSMA_I GSMA_IIA |
G2Cdb.humanPSD G2Cdb.humanPSP CompositeSet |
90780 | pygo2 | 1190004M21Rik | pygopus家庭博士手指2 | 1q21.3 | CV:PGCnp GO_Annotation GSMA_I GSMA_IIA |
|
55509 | BATF3 | JDP1 |jundm1 |snft | basic leucine zipper ATF-like transcription factor 3 | 1q32.3 | CV:PGCnp DMG:JAFFE_2016 |
|
58 | ACTA1 | Acta |Asma |CFTD |CFTD1 |CFTDM |mpfd |Nem1 |Nem2 |Nem3 |SHPM | actin, alpha 1, skeletal muscle | 1q42.13 | CV:PGCnp DMG:Wockner_2014 Network PMID:cooccur |
|
25939 | SAMHD1 | CHBL2 | DCIP | HDDC1 | MOP-5 | SBBI88 | SAM域和高清域1 | 20pter-Q12 | CV:PGCnp DMG:JAFFE_2016 |
|
84557 | MAP1LC3A | atg8e |LC3 |LC3A |map1alc3 |MAP1BLC3 | 微管相关蛋白1轻型链3αα | 20q11.22 | CV:PGCnp | CompositeSet |
6647 | SOD1 | ALS | ALS1 | HEL-S-44 | IPOA | SOD | hSod1 | homodimer | superoxide dismutase 1, soluble | 21q22.11 | CV:PGCnp GO_Annotation PMID:cooccur |
|
23181 | dip2a | C21orf106 | DIP2 | disco interacting protein 2 homolog A | 21q22.3 | CV:GWASdb CV:PGCnp PMID:cooccur |
CompositeSet 达内尔FMRP目标 |
637 | 出价 | FP497 | BH3 interacting domain death agonist | 22Q11.1 | 表达 GO_Annotation GSMA_I PMID:cooccur |
|
65078 | rtn4r | ngr |Nogor | 网状4受体 | 22q11.21 | Association CNV:YES CV:PGCnp DMG:Nishioka_2013 GO_Annotation GR_WM GSMA_I PMID:cooccur |
CompositeSet 达内尔FMRP目标 |
23467 | NPTXR | NPR | 神经元五生受体 | 22q13.1 | CV:PGCnp DMG:Wockner_2014 PMID:cooccur |
INTRACELLULAR SIGNAL TRANSDUCTION CompositeSet 达内尔FMRP目标 潜在的突触基因 |
11252 | PACSIN2 | SDPII | 神经元中的蛋白激酶C和酪蛋白激酶底物2 | 22Q13.2-Q13.33 | CV:PGCnp DEG:Sanders_2013 |
G2CDB.HUMAN_BAYES-COLLINS-HUMAN-PSD-FULL |
1639 | DCTN1 | DAP-150 |DP-150 |P135 | dynactin subunit 1 | 2P13 | CV:PGCnp GO_Annotation Network PMID:cooccur |
INTRACELLULAR TRAFFICKING G2Cdb.human_BAYES-COLLINS-HUMAN-PSD-CONSENSUS G2CDB.HUMAN_BAYES-COLLINS-HUMAN-PSD-FULL G2CDB.HUMAN_BAYES-COLLINS-MOUSE-PSD-CONSUS CompositeSet 达内尔FMRP目标 |
10575 | CCT4 | CCT-DELTA | Cctd | SRB | 伴侣蛋白包含TCP1亚基4 | 2P15 | CV:PGCnp DMG:Wockner_2014 |
RNA和蛋白质合成 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 |
150962 | PUS10 | CCDC139 |多比 | pseudouridylate synthase 10 | 2P16.1 | CV:PGCnp 简历:Phewas |
|
27436 | EML4 | C2orf2 |ELP120 |EMAP-4 |EMAPL4 |ROPP120 | 棘皮动物微管相关蛋白(如4) | 2P21 | CV:PGCnp DMG:Wockner_2014 GO_Annotation |
|
805 | CALM2 | camii |LQT15 |PHKD |PHKD2 |凸轮 | 钙调蛋白2(磷酸化酶激酶,三角洲) | 2P21 | CV:PGCnp | INTRACELLULAR SIGNAL TRANSDUCTION 5-羟色胺 |
4613 | MYCN | MODED | N-myc | NMYC | ODED | bHLHe37 | V-myc禽骨质体病毒病毒性癌基因神经母细胞瘤衍生的同源物 | 2P24.3 | CV:PGCnp DMG:JAFFE_2016 |
|
51252 | FAM178B | - | 具有序列相似性的家庭178成员b | 2q11.2 | CV:PGCnp | |
1524 | CX3CR1 | CCRL1 | CMKBRL1 | CMKDR1 | GPR13 | GPRV28 | V28 | C-X3-C motif chemokine receptor 1 | 3P21.3 | CV:PGCnp PMID:cooccur |
|
78987 | CRELD1 | AVSD2 |卷 | cysteine rich with EGF like domains 1 | 3p25.3 | DMG:vanEijk_2014 | |
7428 | VHL | HRCA1 |RCA1 |VHL1 |PVHL | von Hippel-Lindau tumor suppressor | 3p25.3 | CV:PGCnp Network PMID:cooccur |
|
3708 | ITPR1 | 无环鸟苷| CLA4 |高级警官3R1 | IP3R | IP3R1 | PPP1R94 | SCA15 | SCA16 | SCA29 | inositol 1,4,5-trisphosphate receptor type 1 | 3p26.1 | CV:GWASdb CV:PGCnp DMG:JAFFE_2016 DNM:Fromer_2014 PMID:cooccur |
G2Cdb.human_mGluR5 G2Cdb.humanPSD G2Cdb.humanPSP CompositeSet 达内尔FMRP目标 Ascano FMRP targets |
2932 | GSK3B | - | 糖原合酶激酶3β | 3q13.3 | Association CV:PGCnp GO_Annotation gr_cor GR_WM Network PMID:cooccur |
INTRACELLULAR SIGNAL TRANSDUCTION G2CDB.HUMAN_BAYES-COLLINS-HUMAN-PSD-FULL G2CDB.HUMANNRC G2Cdb.humanPSD G2Cdb.humanPSP CompositeSet 达内尔FMRP目标 潜在的突触基因 |
1356 | CP | CP-2 | ceruloplasmin (ferroxidase) | 3q23-q25 | CV:PGCnp PMID:cooccur |
|
347 | APOD | - | apolipoprotein D | 3Q29 | CV:PGCnp PMID:cooccur |
CompositeSet |
6649 | SOD3 | EC-SOD | 超氧化物歧化酶3,细胞外 | 4P15.2 | CV:PGCnp | |
55646 | LYAR | ZC2HC2 | ZLYAR | LY1抗体反应性 | 4P16.3 | CV:PGCnp | |
10983 | CCNI | CCNI1 | CYC1 | CYI | cyclin i | 4q21.1 | CV:PGCnp DMG:Wockner_2014 |
|
51316 | Plac8 | C15 |DGIC |PNAS-144 |onzin | 胎盘特异性8 | 4Q21.22 | CV:PGCnp DMG:JAFFE_2016 |
|
6696 | SPP1 | BNSP |BSPI |ETA-1 |OPN | 分泌的磷蛋白1 | 4q22.1 | CV:PGCnp 简历:Phewas |
|
55314 | TMEM144 | - | 跨膜蛋白144 | 4q32.1 | CV:PGCnp DMG:Wockner_2014 表达 |
|
4208 | MEF2C | C5DELQ14.3 |DEL5Q14.3 | 心肌细胞增强因子2C | 5Q14.3 | CV:PGCnp DMG:JAFFE_2016 GO_Annotation PMID:cooccur |
|
5314 | PKHD1 | arpkd |fcyt |TIGM1 | 多囊肾脏和肝病1(常染色体隐性) | 6p12.2 | CV:GWASdb CV:PGCnp gsma_iie PMID:cooccur |
|
6722 | SRF | MCM1 | serum response factor | 6p21.1 | CV:PGCnp DMG:Nishioka_2013 gsma_iie PMID:cooccur |
|
54209 | trem2 | TREM-2 | Trem2a | Trem2b | Trem2c | 触发在髓样细胞2上表达的受体2 | 6p21.1 | CV:PGCnp DNM:XU_2012 GSMA_I gsma_iie PMID:cooccur |
CompositeSet |
7917 | BAG6 | BAG-6 | BAT3 | D6S52E | G3 | BCL2 associated athanogene 6 | 6p21.3 | CV:PGCnp 表达 GSMA_I Network |
|
55168 | MRPS18A | HumanS18b | MRP-S18-3 | MRPS18-3 | S18bmt | 线粒体核糖体蛋白S18A | 6p21.3 | CV:PGCnp DMG:JAFFE_2016 gsma_iie |
|
140767 | NRSN1 | VMP |P24 | neurensin 1 | 6p22.3 | CV:GWASdb CV:PGCnp GO_Annotation GSMA_I |
|
23353 | SUN1 | UNC84A | SAD1和UNC84域,包含1个 | 7p22.3 | CV:PGCnp | |
2969 | gtf2i | BAP135 | BTKAP1 | DIWS | GTFII-I | IB291 | SPIN | TFII-I | WBS | WBSCR6 | general transcription factor IIi | 7q11.23 | CV:PGCnp Network PMID:cooccur |
|
440 | ASNS | ASNSD | TS11 | 天冬酰胺合成酶(谷氨酰胺 - 水解) | 7q21.3 | CV:PGCnp DMG:JAFFE_2016 GO_Annotation |
|
93979 | CPA5 | - | carboxypeptidase A5 | 7q32 | CV:PGCnp | |
157855 | KCNU1 | KCNMC1 | KCa5 | KCa5.1 | Kcnma3 | Slo3 | potassium calcium-activated channel subfamily U member 1 | 8p11.23 | CV:PGCnp DNM:Gulsuner_2013 |
|
2961 | GTF2E2 | fe |TF2E2 |tfiie-b | general transcription factor IIE subunit 2 | 8p12 | CV:PGCnp DMG:Nishioka_2013 GSMA_IIA gsma_iie |
|
64641 | EBF2 | COE2 | EBF-2 | O/E-3 | OE-3 | 早期B细胞因子2 | 8p21.2 | CV:PGCnp GSMA_I GSMA_IIA gsma_iie |
|
157807 | CLVS1 | cralbpl |RLBP1L1 | clavesin 1 | 8q12.3 | CV:PGCnp 简历:Phewas |
|
4683 | NBN | AT-V1 | AT-V2 | ATV | NBS | NBS1 | P95 | nbrin | 8q21 | CV:PGCnp | |
25897 | RNF19A | RNF19 | 环手指蛋白19a,RBR E3泛素蛋白连接酶 | 8q22 | CV:PGCnp 简历:Phewas |
|
5820 | PVT1 | Linc00079 |NCRNA00079 |Onco-lncRNA-100 | Pvt1 oncogene (non-protein coding) | 8q24 | CV:PGCnp DMG:Wockner_2014 |
|
55234 | SMU1 | BWD |SMU-1 |FSAP57 | MEC-8和UNC-52同源物(秀丽隐杆线虫)的SMU-1抑制剂 | 9p12 | CV:PGCnp | |
5253 | PHF2 | CENP-35 | GRC5 | JHDM1E | PHD finger protein 2 | 9q22.31 | CV:GWASdb CV:PGCnp PMID:cooccur |
Ascano FMRP targets |
158135 | TTLL11 | C9orf20 |BA244O19.1 | 微管蛋白酪氨酸连接酶像11 | 9q33.2 | CV:GWASdb CV:PGCnp DMG:Montano_2016 PMID:cooccur |
|
393 | arhgap4 | C1 |RGC1 |Rhogap4 |srgap4 |P115 | Rho GTPase激活蛋白4 | Xq28 | CV:GWASdb CV:PGCnp DMG:vanEijk_2014 PMID:cooccur |
|
3654 | IRAK1 | IRAK | pelle | 白介素1受体相关激酶1 | Xq28 | CV:PGCnp 表达 Network PMID:cooccur |
潜在的突触基因 |