Platybasia Gene Set

Dataset DisGeNET Gene-Disease Associations
Category disease or phenotype associations
Type disease
Description A developmental malformation of the occipital bone and upper end of the cervical spine, in which the latter appears to have pushed the floor of the occipital bone upward such that there is an abnormal flattening of the skull base. (Human Phenotype Ontology, HP_0002691)
External Link https://www.disgenet.org/browser/0/1/0/C0032209
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Genes

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

Symbol Name
ARVCF armadillo repeat gene deleted in velocardiofacial syndrome
COL1A1 collagen, type I, alpha 1
COL1A2 collagen, type I, alpha 2
COMT catechol-O-methyltransferase
DKK1 dickkopf WNT signaling pathway inhibitor 1
FLNB filamin B, beta
GP1BB glycoprotein Ib (platelet), beta polypeptide
HIRA histone cell cycle regulator
JMJD1C jumonji domain containing 1C
NID1 nidogen 1
NOTCH2 notch 2
NOTCH3 notch 3
RREB1 ras responsive element binding protein 1
SEC24C SEC24 family member C
SIK3 SIK family kinase 3
TBX1 T-box 1
UFD1 ubiquitin recognition factor in ER associated degradation 1
ZBTB20 zinc finger and BTB domain containing 20