Kabuki Make-Up Syndrome Gene Set

Dataset DisGeNET Gene-Disease Associations
Category disease or phenotype associations
Type disease
External Link https://www.disgenet.org/browser/0/1/0/C0796004
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Genes

35 genes associated with the disease Kabuki Make-Up Syndrome in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Symbol Name
ANKRD11 ankyrin repeat domain 11
ANOS1 anosmin 1
BRAF B-Raf proto-oncogene, serine/threonine kinase
CHD7 chromodomain helicase DNA binding protein 7
EPHB2 EPH receptor B2
FZR1 fizzy/cell division cycle 20 related 1 (Drosophila)
GH1 growth hormone 1
HNRNPK heterogeneous nuclear ribonucleoprotein K
ITGB7 integrin, beta 7
KDM1A lysine (K)-specific demethylase 1A
KDM6A lysine (K)-specific demethylase 6A
KMT2A lysine (K)-specific methyltransferase 2A
KMT2B lysine (K)-specific methyltransferase 2B
KMT2D lysine (K)-specific methyltransferase 2D
MACROD2 MACRO domain containing 2
MAP2K7 mitogen-activated protein kinase kinase 7
MAPK1 mitogen-activated protein kinase 1
MBD2 methyl-CpG binding domain protein 2
MKKS McKusick-Kaufman syndrome
MYH6 myosin, heavy chain 6, cardiac muscle, alpha
POGZ pogo transposable element with ZNF domain
POMC proopiomelanocortin
RABGEF1 RAB guanine nucleotide exchange factor (GEF) 1
RAP1A RAP1A, member of RAS oncogene family
RAP1B RAP1B, member of RAS oncogene family
RBPJ recombination signal binding protein for immunoglobulin kappa J region
SEPT9 septin 9
SET SET nuclear proto-oncogene
SOX3 SRY (sex determining region Y)-box 3
TERF2IP telomeric repeat binding factor 2, interacting protein
TNFRSF13B tumor necrosis factor receptor superfamily, member 13B
TUBA3C tubulin, alpha 3c
TUBA3D tubulin, alpha 3d
UTY ubiquitously transcribed tetratricopeptide repeat containing, Y-linked
ZFPM2 zinc finger protein, FOG family member 2