plagiocephaly Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
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 http://compbio.charite.de/hpoweb/showterm?id=HP:0001357
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Genes

30 genes associated with the plagiocephaly phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
ADAR adenosine deaminase, RNA-specific
ARID1B AT rich interactive domain 1B (SWI1-like)
BMP4 bone morphogenetic protein 4
COL11A1 collagen, type XI, alpha 1
COL11A2 collagen, type XI, alpha 2
DPYS dihydropyrimidinase
DYNC1H1 dynein, cytoplasmic 1, heavy chain 1
EFNB1 ephrin-B1
ERF Ets2 repressor factor
FAM20C family with sequence similarity 20, member C
FBXL4 F-box and leucine-rich repeat protein 4
FGFR2 fibroblast growth factor receptor 2
FGFR3 fibroblast growth factor receptor 3
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
KRAS Kirsten rat sarcoma viral oncogene homolog
MBTPS2 membrane-bound transcription factor peptidase, site 2
MED12 mediator complex subunit 12
NDE1 nudE neurodevelopment protein 1
PIGO phosphatidylinositol glycan anchor biosynthesis, class O
PIGV phosphatidylinositol glycan anchor biosynthesis, class V
RNASEH2A ribonuclease H2, subunit A
RNASEH2B ribonuclease H2, subunit B
RNASEH2C ribonuclease H2, subunit C
SAMHD1 SAM domain and HD domain 1
TCF12 transcription factor 12
TREX1 three prime repair exonuclease 1
TWIST1 twist family bHLH transcription factor 1
ZBTB20 zinc finger and BTB domain containing 20