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| Gene ID | Symbol | Synonyms | Official Full Name | Location | SZ group ? | Functional group ? |
|---|---|---|---|---|---|---|
| 5781 | PTPN11 | BPTP3 | CFC | JMML | METCDS | NS1 | PTP-1D | PTP2C | SH-PTP2 | SH-PTP3 | SHP2 | protein tyrosine phosphatase, non-receptor type 11 | 12q24 | CV:PGCnp GO_Annotation Network | G2Cdb.human_BAYES-COLLINS-HUMAN-PSD-CONSENSUS G2Cdb.human_BAYES-COLLINS-HUMAN-PSD-FULL G2Cdb.humanNRC G2Cdb.humanPSD G2Cdb.humanPSP CompositeSet Darnell FMRP targets |
| 23389 | MED13L | MRFACD | PROSIT240 | THRAP2 | TRAP240L | mediator complex subunit 13 like | 12q24.21 | CV:GWASdb CV:PGCnp Expression PMID:cooccur | CompositeSet Darnell FMRP targets |
| 4853 | NOTCH2 | AGS2 | HJCYS | hN2 | notch 2 | 1p13-p11 | CV:PGCnp Expression GO_Annotation GR_Ng GSMA_I GSMA_IIA PMID:cooccur | |
| 182 | JAG1 | AGS | AHD | AWS | CD339 | HJ1 | JAGL1 | jagged 1 | 20p12.1-p11.23 | CV:PGCnp DMG:Jaffe_2016 DMG:Wockner_2014 Expression GO_Annotation GSMA_I PMID:cooccur | Ascano FMRP targets |
| 6899 | TBX1 | CAFS | CATCH22 | CTHM | DGCR | DGS | DORV | TBX1C | TGA | VCF | VCFS | T-box 1 | 22q11.21 | Association CNV:YES CV:GWASdb CV:PGCnp GR_Ng GR_WM GSMA_I PMID:cooccur | |
| 1482 | NKX2-5 | CHNG5 | CSX | CSX1 | HLHS2 | NKX2.5 | NKX2E | NKX4-1 | VSD3 | NK2 homeobox 5 | 5q34 | CV:PGCnp DMG:Nishioka_2013 GSMA_IIA | |
| 7021 | TFAP2B | AP-2B | AP2-B | transcription factor AP-2 beta (activating enhancer binding protein 2 beta) | 6p12 | CV:PGCnp DMG:Wockner_2014 GO_Annotation GSMA_IIE | |
| 4851 | NOTCH1 | AOS5 | AOVD1 | TAN1 | hN1 | notch 1 | 9q34.3 | CV:PGCnp Network PMID:cooccur | Ascano FMRP targets |