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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Encephalopathy, Ethylmalonic | Autoimmune Autonomic Ganglionopathy | Basal Ganglia Disease | Neurocutaneous Melanocytosis | Borjeson-Forssman-Lehmann Syndrome | CDKL5 Deficiency Disorder | Osteoglophonic Dysplasia | Congenital Ichthyosiform Erythroderma | Transcobalamin Deficiency | Atelosteogenesis Type 1 | Nemaline Myopathy | Motion Sickness | Gerodermia Osteodysplastica | Colorectal Adenoma | Metatropic Dysplasia | Xeroderma Pigmentosum | Frontotemporal Dementia With Amyotrophic Lateral Sclerosis | Rotor Syndrome | Erdheim-Chester Disease | Renpenning Syndrome | Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy | Spondylo-megaepiphyseal-metaphyseal Dysplasia | Hypercalciuria | Gnathodiaphyseal Dysplasia | Myhre Syndrome | Non-small Cell Lung Cancer | Pseudoexfoliation Syndrome | Pachyonychia Congenita | Multiple Mitochondrial Dysfunctions Syndrome Type 1 | Oligodendroglioma | Kawasaki Disease | Chromosome 16p11.2 Deletion Syndrome | Otitis Media | Adenosine Deaminase 2 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