Disease

DiGeorge Syndrome

About the Disease
Chromosome 22q11.2 Deletion Syndrome, Distal, also known as 22q11.2 deletion syndrome, is related to digeorge syndrome and velocardiofacial syndrome. An important gene associated with Chromosome 22q11.2 Deletion Syndrome, Distal is TBX1 (T-Box Transcription Factor 1), and among its related pathways/superpathways is 22q11.2 copy number variation syndrome. The drugs Risperidone and Dopamine have been mentioned in the context of this disorder. Affiliated tissues include heart, kidney and thymus, and related phenotypes are intellectual disability and global developmental delay

Common Targets
WDR74 | THAP7-AS1 | ASXL1 | SNX12 | UFD1 | SHANK3 | FBN1 | Metabotropic glutamate (mGluR) receptor (nonspecified subtype) | ZFC3H1 | H4C8 | AP2S1 | TBX1 | TRPM8 | ZNF595 | SMARCA2 | IL17RA | Gamma-Aminobutyric acid type B receptor | PRMT5 | H2AC21 | COMT | H4C9 | SNX5 | CLIC6 | LOC653513 | CRKL | MRGPRF | SNX16 | SGO1-AS1 | GOLM2 | HNRNPC | TRPV2 | CLTCL1 | SLC15A3 | TIAM1 | EIF3F | IQSEC1 | H2BC21 | HES7 | LOC105375928 | PRODH | ABCB9 | IQCG | PRMT5-DT | RNU6-2 | RPL7A | JAG1 | ARVCF | ADNP2 | H2BC12 | LOC105371522 | PHC1 | SETD2 | PDE4DIP | SGO1 | HDAC4 | LOC105374377 | H2AC4 | H2AC20 | ZFPM2 | H3C3 | ANG | EP400 | CEP76 | MGME1 | RNASE4 | RPL35A | RDH10 | LOC105369835 | SALL4 | TAGLN2 | AGBL2 | SLC7A2 | DGCR2 | MED22 | LASP1 | SPECC1L | GPR55 | ARLNC1 | DNAJB4 | SNORD36B | CHEK2 | SNORD36A | LINC03055 | LOC105374903 | SNORD24 | ARSA | GNB1L | LOC105374985 | RNU2-2P | THAP7 | P2RX6 | CTTN | H3C2 | OGFOD2 | H2BC3 | G3308 | H4C1 | G595 | GAB1 | RPL7 | TMEM259 | SHF | SKI

疾病靶点研报
DiGeorge Syndrome

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