Digeorge syndrome

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Pathways column key: KEGG Reactome
Disease Term Disease ID Gene Symbol Classification References Source Pathways
DIGEORGE SYNDROME
C0012236188400MESH:D004062MONDO:0008564
HNF1A Causal — Disgenet
TBX1 Causal
14585638 15190012 16399080 17000704
CTD, ClinVar, Disgenet, GWAS catalog, HPO —
All19 Causal2 Unknown17
Related Diseases Diseases that share the most curated genes with Digeorge syndrome.
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22q11.2 deletion syndrome 9 shared genesARVCF, COMT, GP1BB, HIRA, JMJD1C, RREB1, SEC24C, TBX1, UFD1 Related via 9 shared genes including ARVCF, COMT, GP1BB. Velocardiofacial syndrome 5 shared genesTBX1, DGCR8, DGCR2, DGCR6, ESS2 Related via 5 shared genes including TBX1, DGCR8, DGCR2. 22q11 deletion syndrome 1 shared geneFGF8 Related via 1 shared gene including FGF8. Intermittent explosive disorder 1 shared geneCOMT Related via 1 shared gene including COMT. Chromosome 22q11.2 microduplication syndrome 1 shared geneTBX1 Related via 1 shared gene including TBX1.