Plagiocephaly Gene Set

Dataset DisGeNET Gene-Disease Associations
Category disease or phenotype associations
Type disease
Description Asymmetric head shape, which is usually a combination of unilateral occipital flattening with ipsilateral frontal prominence, leading to rhomboid cranial shape. (Human Phenotype Ontology, HP_0001357)
External Link https://www.disgenet.org/browser/0/1/0/C0265529
Similar Terms
Downloads & Tools

Genes

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

Symbol Name
ADAR adenosine deaminase, RNA-specific
ADNP activity-dependent neuroprotector homeobox
ARID1B AT rich interactive domain 1B (SWI1-like)
ARID2 AT rich interactive domain 2 (ARID, RFX-like)
BRCA2 breast cancer 2, early onset
CCDC47 coiled-coil domain containing 47
CHN1 chimerin 1
CHSY1 chondroitin sulfate synthase 1
CNTNAP2 contactin associated protein-like 2
COL11A1 collagen, type XI, alpha 1
COL11A2 collagen, type XI, alpha 2
COL25A1 collagen, type XXV, alpha 1
DPYS dihydropyrimidinase
DYNC1H1 dynein, cytoplasmic 1, heavy chain 1
EFNB1 ephrin-B1
ERF Ets2 repressor factor
ERMARD ER membrane-associated RNA degradation
FBXO11 F-box protein 11
FGFR2 fibroblast growth factor receptor 2
FGFR3 fibroblast growth factor receptor 3
FKTN fukutin
H3F3A H3 histone, family 3A
HERC2 HECT and RLD domain containing E3 ubiquitin protein ligase 2
HRAS Harvey rat sarcoma viral oncogene homolog
IFIH1 interferon induced with helicase C domain 1
KAT6A K(lysine) acetyltransferase 6A
KDM5C lysine (K)-specific demethylase 5C
KIAA1109 KIAA1109
KIDINS220 kinase D-interacting substrate, 220kDa
KRAS Kirsten rat sarcoma viral oncogene homolog
MAFB v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog B
MBTPS2 membrane-bound transcription factor peptidase, site 2
MED12 mediator complex subunit 12
MED13L mediator complex subunit 13-like
NFIX nuclear factor I/X (CCAAT-binding transcription factor)
NONO non-POU domain containing, octamer-binding
NRAS neuroblastoma RAS viral (v-ras) oncogene homolog
NRXN1 neurexin 1
PCGF2 polycomb group ring finger 2
PGAP2 post-GPI attachment to proteins 2
PGAP3 post-GPI attachment to proteins 3
PIGL phosphatidylinositol glycan anchor biosynthesis, class L
PIGO phosphatidylinositol glycan anchor biosynthesis, class O
PIGQ phosphatidylinositol glycan anchor biosynthesis, class Q
PIGV phosphatidylinositol glycan anchor biosynthesis, class V
PIGW phosphatidylinositol glycan anchor biosynthesis, class W
PIGY phosphatidylinositol glycan anchor biosynthesis, class Y
PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha
PPP2CA protein phosphatase 2, catalytic subunit, alpha isozyme
PPP2R1A protein phosphatase 2, regulatory subunit A, alpha
PPP3CA protein phosphatase 3, catalytic subunit, alpha isozyme
PRUNE1 prune exopolyphosphatase 1
RAC1 ras-related C3 botulinum toxin substrate 1 (rho family, small GTP binding protein Rac1)
RNASEH2A ribonuclease H2, subunit A
RNASEH2B ribonuclease H2, subunit B
RNASEH2C ribonuclease H2, subunit C
RYR1 ryanodine receptor 1 (skeletal)
SAMHD1 SAM domain and HD domain 1
SET SET nuclear proto-oncogene
SLC26A2 solute carrier family 26 (anion exchanger), member 2
TBCD tubulin folding cofactor D
TCF12 transcription factor 12
TCF20 transcription factor 20 (AR1)
THOC6 THO complex 6
TMEM8C transmembrane protein 8C
TREX1 three prime repair exonuclease 1
TUBB3 tubulin, beta 3 class III
TWIST1 twist family bHLH transcription factor 1
UBA5 ubiquitin-like modifier activating enzyme 5
UNC80 unc-80 homolog (C. elegans)
WDR35 WD repeat domain 35
ZBTB20 zinc finger and BTB domain containing 20
ZIC1 Zic family member 1