Chromosome 16p11.2 Deletion Syndrome

About the Disease
Chromosome 16p11.2 Deletion Syndrome, also known as distal 16p11.2 microdeletion syndrome, is related to chromosome 16p11.2 deletion syndrome, 220-kb and episodic kinesigenic dyskinesia 1. An important gene associated with Chromosome 16p11.2 Deletion Syndrome is SH2B1 (SH2B Adaptor Protein 1), and among its related pathways/superpathways is 16p11.2 proximal deletion syndrome. The drugs Baclofen and GABA Agonists have been mentioned in the context of this disorder. Affiliated tissues include brain, kidney and prefrontal cortex, and related phenotypes are global developmental delay and neonatal hypotonia

Common Targets
DPH1 | IZUMO1 | KCNH2 | FBXL12 | PROKR2 | ETV1 | CCDC17 | G2335 | DPPA5 | CFB | NECTIN4 | CACNA2D2 | MARVELD2 | MTIF2 | STEAP2 | N4BP1 | TMPRSS13 | TMPRSS12 | SMIM15 | FARSB | LOC283194 | SRGAP1 | AHDC1 | LILRB4 | TBC1D32 | MORN4 | SMTN | EFHD1 | TMEM39A | SUSD5 | MCU | PLXNB2 | MYT1L | PRKCZ | MZT2B | CCNH | CLIC6 | NRARP | KIF7 | SLC19A3 | TBR1 | SH2B1 | PRDM1 | ADD2 | LMX1A | MTX3 | SULT2B1 | MAZ | SPOCK3 | GEMIN7 | ZNF787 | EXOSC2 | MITF | C1orf115 | SERGEF | MIR9-3HG | APCDD1 | FILIP1 | FER | POMC | PRICKLE2 | PLCL2 | CTNNA2 | YPEL4 | PAX3 | CHD5 | FBXL5 | TP73 | ARPC2 | TEX14 | SLC25A42 | CLK4 | NAPEPLD | CDK5RAP1 | NAV1 | ANKRD9 | FBXL14 | UQCRB | SELENOM | NRG3 | RBM25 | EIF4E | ZNF629 | SHROOM3 | DPEP2 | CAP2 | MDC1 | CROCC | RNF212 | SNX30 | COL9A2 | LENG8 | ESRP2 | C10orf82 | USP18 | TOM1L2 | FOXP4 | MEF2D | CRB3 | FUOM | DNPEP | CBFA2T3 | SMARCD1 | SH3PXD2B | PRKCH | RHBDL3 | PSD4 | MINPP1 | RAD50 | CERS2 | COL9A3 | ARHGEF3 | NUBPL | SIX4 | ZNF264 | SLC6A19 | GXYLT2 | AGPAT3 | ORAI2 | IBTK | C4orf19 | TLE2 | EVC2 | ANKDD1B | ANKMY1 | LINC01135 | METRNL | S100A9 | WTAPP1 | PNMA1 | SNORD115-1 | TNS1 | STMN4 | SOX9 | ZNF551 | SNHG17 | CHD8 | AMDHD1 | PIK3R6 | LOXHD1 | TINCR | C1QTNF4 | ERGIC1 | SEM1 | LYPLA2 | RAP1A | AOPEP | MLNR | PRSS27 | USP44 | TRMT11 | MIER3 | CDHR1 | AP1G1 | CD300LG | OXR1 | CNTN4 | CATSPERE | SHROOM1 | DTNA | SALL4 | SLC9B2 | TAGLN2 | RBPMS2 | YPEL3 | NUDC | ANKDD1A | PHYKPL | EXD3 | ABCG4 | MGMT | CD47 | FEZ1 | LMBR1L | HRH1 | DGCR2 | ADAMTS2 | ARHGAP45 | NPAS3 | CACNB4 | MYEF2 | SAMD8 | ABHD1 | SCMH1 | GDAP1 | ZC3H4 | PEAR1 | SDC3 | SERP2 | ZNF232 | GCSAM | SND1 | PAK4 | FLYWCH1 | ALDOA | ZNF583 | MIS18BP1 | C17orf75 | RAP1GAP | FGF20 | CXXC1 | PPARGC1A | NFASC | TRIM7 | DLGAP2 | SAMD4A | C9orf64 | PER3 | FREM2 | REC8 | WNT3 | CBFB | PILRA | SLC7A14 | SAYSD1 | DZIP1 | G114548 | EBF4 | ARHGEF16 | ADAMTS12 | AGBL4 | OSTM1 | SPRED3 | MAMSTR | SH2D5 | INPP5F | MTMR7

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