brachycephaly Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description An abnormality of skull shape characterized by a decreased anterior-posterior diameter. That is, a cephalic index greater than 81%. Alternatively, an apparently shortened anteroposterior dimension (length) of the head compared to width. (Human Phenotype Ontology, HP_0000248)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0000248
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Genes

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

Symbol Name
ACOX1 acyl-CoA oxidase 1, palmitoyl
ADAMTS10 ADAM metallopeptidase with thrombospondin type 1 motif, 10
ADSL adenylosuccinate lyase
AGA aspartylglucosaminidase
ALDH18A1 aldehyde dehydrogenase 18 family, member A1
ALX1 ALX homeobox 1
ATIC 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase
ATP7A ATPase, Cu++ transporting, alpha polypeptide
B3GAT3 beta-1,3-glucuronyltransferase 3
BMP4 bone morphogenetic protein 4
BUB1B BUB1 mitotic checkpoint serine/threonine kinase B
CDKL5 cyclin-dependent kinase-like 5
CHST14 carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 14
CYP26B1 cytochrome P450, family 26, subfamily B, polypeptide 1
DSE dermatan sulfate epimerase
EFNB1 ephrin-B1
EHMT1 euchromatic histone-lysine N-methyltransferase 1
ESCO2 establishment of sister chromatid cohesion N-acetyltransferase 2
FAM20C family with sequence similarity 20, member C
FBN1 fibrillin 1
FBN2 fibrillin 2
FGFR1 fibroblast growth factor receptor 1
FGFR2 fibroblast growth factor receptor 2
FGFR3 fibroblast growth factor receptor 3
GATA1 GATA binding protein 1 (globin transcription factor 1)
GRIA3 glutamate receptor, ionotropic, AMPA 3
HCFC1 host cell factor C1
HDAC4 histone deacetylase 4
HDAC8 histone deacetylase 8
IL11RA interleukin 11 receptor, alpha
IRX5 iroquois homeobox 5
KIAA0196 KIAA0196
MECP2 methyl CpG binding protein 2
MEGF8 multiple EGF-like-domains 8
MGAT2 mannosyl (alpha-1,6-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase
MMP2 matrix metallopeptidase 2
NALCN sodium leak channel, non selective
NBAS neuroblastoma amplified sequence
NEK1 NIMA-related kinase 1
NIPBL Nipped-B homolog (Drosophila)
PEX1 peroxisomal biogenesis factor 1
PIGL phosphatidylinositol glycan anchor biosynthesis, class L
PIGT phosphatidylinositol glycan anchor biosynthesis, class T
POR P450 (cytochrome) oxidoreductase
PQBP1 polyglutamine binding protein 1
PRKAR1A protein kinase, cAMP-dependent, regulatory, type I, alpha
PTH1R parathyroid hormone 1 receptor
RAB18 RAB18, member RAS oncogene family
RAB23 RAB23, member RAS oncogene family
RAB3GAP2 RAB3 GTPase activating protein subunit 2 (non-catalytic)
RAI1 retinoic acid induced 1
RBM8A RNA binding motif protein 8A
RECQL4 RecQ protein-like 4
RMRP RNA component of mitochondrial RNA processing endoribonuclease
SETD5 SET domain containing 5
SLC12A6 solute carrier family 12 (potassium/chloride transporter), member 6
SRD5A3 steroid 5 alpha-reductase 3
TBC1D20 TBC1 domain family, member 20
TECPR2 tectonin beta-propeller repeat containing 2
TMCO1 transmembrane and coiled-coil domains 1
TWIST1 twist family bHLH transcription factor 1
UBE3A ubiquitin protein ligase E3A
ZBTB20 zinc finger and BTB domain containing 20
ZSWIM6 zinc finger, SWIM-type containing 6