Mandibulofacial Dysostosis Gene Set

Dataset DisGeNET Gene-Disease Associations
Category disease or phenotype associations
Type disease
External Link https://www.disgenet.org/browser/0/1/0/C0242387
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Genes

40 genes associated with the disease Mandibulofacial Dysostosis in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Symbol Name
ANXA6 annexin A6
CAMK2A calcium/calmodulin-dependent protein kinase II alpha
CHD7 chromodomain helicase DNA binding protein 7
CNBP CCHC-type zinc finger, nucleic acid binding protein
COL11A2 collagen, type XI, alpha 2
CRP C-reactive protein, pentraxin-related
CSNK2A1 casein kinase 2, alpha 1 polypeptide
CUL3 cullin 3
DDX21 DEAD (Asp-Glu-Ala-Asp) box helicase 21
EDNRA endothelin receptor type A
EFTUD2 elongation factor Tu GTP binding domain containing 2
ERGIC2 ERGIC and golgi 2
FGFR4 fibroblast growth factor receptor 4
HIF1A hypoxia inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor)
IL13 interleukin 13
IL1A interleukin 1, alpha
IL1B interleukin 1, beta
KBTBD8 kelch repeat and BTB (POZ) domain containing 8
NDST1 N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 1
NOG noggin
NOLC1 nucleolar and coiled-body phosphoprotein 1
NR3C1 nuclear receptor subfamily 3, group C, member 1 (glucocorticoid receptor)
PARP1 poly (ADP-ribose) polymerase 1
PCNA proliferating cell nuclear antigen
PITX1 paired-like homeodomain 1
POLR1A polymerase (RNA) I polypeptide A, 194kDa
POLR1B polymerase (RNA) I polypeptide B, 128kDa
POLR1C polymerase (RNA) I polypeptide C, 30kDa
POLR1D polymerase (RNA) I polypeptide D, 16kDa
PRDX2 peroxiredoxin 2
QDPR quinoid dihydropteridine reductase
RPS14 ribosomal protein S14
RPS19 ribosomal protein S19
SLC6A7 solute carrier family 6 (neurotransmitter transporter), member 7
SPARC secreted protein, acidic, cysteine-rich (osteonectin)
TCEA1 transcription elongation factor A (SII), 1
TCOF1 Treacher Collins-Franceschetti syndrome 1
TNF tumor necrosis factor
TP53 tumor protein p53
WDR43 WD repeat domain 43