Brachycephaly Gene Set

Dataset DisGeNET Gene-Disease Associations
Category disease or phenotype associations
Type disease
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 https://www.disgenet.org/browser/0/1/0/C0221356
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Genes

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

Symbol Name
ACOX1 acyl-CoA oxidase 1, palmitoyl
ADAMTS10 ADAM metallopeptidase with thrombospondin type 1 motif, 10
ADAMTSL1 ADAMTS-like 1
ADNP activity-dependent neuroprotector homeobox
ADSL adenylosuccinate lyase
AGA aspartylglucosaminidase
ALDH18A1 aldehyde dehydrogenase 18 family, member A1
ALG13 ALG13, UDP-N-acetylglucosaminyltransferase subunit
ALG9 ALG9, alpha-1,2-mannosyltransferase
ALX1 ALX homeobox 1
ALX4 ALX homeobox 4
AMER1 APC membrane recruitment protein 1
ARID1B AT rich interactive domain 1B (SWI1-like)
ATIC 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase
ATP7A ATPase, Cu++ transporting, alpha polypeptide
ATRX alpha thalassemia/mental retardation syndrome X-linked
AUTS2 autism susceptibility candidate 2
B3GAT3 beta-1,3-glucuronyltransferase 3
B3GLCT beta 3-glucosyltransferase
BBS9 Bardet-Biedl syndrome 9
BMP2 bone morphogenetic protein 2
BRAF B-Raf proto-oncogene, serine/threonine kinase
BUB1B BUB1 mitotic checkpoint serine/threonine kinase B
CCDC47 coiled-coil domain containing 47
CD19 CD19 molecule
CD81 CD81 molecule
CDH11 cadherin 11, type 2, OB-cadherin (osteoblast)
CENPT centromere protein T
CHD7 chromodomain helicase DNA binding protein 7
CHST14 carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 14
CHST3 carbohydrate (chondroitin 6) sulfotransferase 3
CNTNAP2 contactin associated protein-like 2
COL11A1 collagen, type XI, alpha 1
CR2 complement component (3d/Epstein Barr virus) receptor 2
CTSK cathepsin K
CTU2 cytosolic thiouridylase subunit 2 homolog (S. pombe)
CYP26B1 cytochrome P450, family 26, subfamily B, polypeptide 1
DEAF1 DEAF1 transcription factor
DSE dermatan sulfate epimerase
EFNB1 ephrin-B1
EHMT1 euchromatic histone-lysine N-methyltransferase 1
ERF Ets2 repressor factor
ESCO2 establishment of sister chromatid cohesion N-acetyltransferase 2
EXT2 exostosin glycosyltransferase 2
EZH2 enhancer of zeste 2 polycomb repressive complex 2 subunit
FBN1 fibrillin 1
FBN2 fibrillin 2
FGFR1 fibroblast growth factor receptor 1
FGFR2 fibroblast growth factor receptor 2
FGFR3 fibroblast growth factor receptor 3
FKBP10 FK506 binding protein 10, 65 kDa
FKTN fukutin
FLII flightless I homolog (Drosophila)
FREM1 FRAS1 related extracellular matrix 1
FUCA1 fucosidase, alpha-L- 1, tissue
GABRD gamma-aminobutyric acid (GABA) A receptor, delta
GATA1 GATA binding protein 1 (globin transcription factor 1)
GJA1 gap junction protein, alpha 1, 43kDa
GRIA3 glutamate receptor, ionotropic, AMPA 3
HCFC1 host cell factor C1
HDAC8 histone deacetylase 8
HNRNPK heterogeneous nuclear ribonucleoprotein K
HSPA9 heat shock 70kDa protein 9 (mortalin)
HUWE1 HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase
ICOS inducible T-cell co-stimulator
IFT122 intraflagellar transport 122
INTU inturned planar cell polarity protein
IQSEC2 IQ motif and Sec7 domain 2
IRX5 iroquois homeobox 5
KCNAB2 potassium channel, voltage gated subfamily A regulatory beta subunit 2
KDM1A lysine (K)-specific demethylase 1A
KMT2A lysine (K)-specific methyltransferase 2A
LAS1L LAS1-like (S. cerevisiae)
LIG4 ligase IV, DNA, ATP-dependent
LRP5 low density lipoprotein receptor-related protein 5
MAF v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog
MBD5 methyl-CpG binding domain protein 5
MECP2 methyl CpG binding protein 2
MED12 mediator complex subunit 12
MED13L mediator complex subunit 13-like
MFAP4 microfibrillar-associated protein 4
MGAT2 mannosyl (alpha-1,6-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase
MMP14 matrix metallopeptidase 14 (membrane-inserted)
MMP2 matrix metallopeptidase 2
MPDU1 mannose-P-dolichol utilization defect 1
MS4A1 membrane-spanning 4-domains, subfamily A, member 1
NACC1 nucleus accumbens associated 1, BEN and BTB (POZ) domain containing
NALCN sodium leak channel, non selective
NANS N-acetylneuraminic acid synthase
NBAS neuroblastoma amplified sequence
NELL1 NEL-like 1 (chicken)
NFKB1 nuclear factor of kappa light polypeptide gene enhancer in B-cells 1
NFKB2 nuclear factor of kappa light polypeptide gene enhancer in B-cells 2 (p49/p100)
NGLY1 N-glycanase 1
NIPBL Nipped-B homolog (Drosophila)
NRXN1 neurexin 1
OTUD6B OTU domain containing 6B
PCGF2 polycomb group ring finger 2
PCLO piccolo presynaptic cytomatrix protein
PDE4D phosphodiesterase 4D, cAMP-specific
PGAP2 post-GPI attachment to proteins 2
PGAP3 post-GPI attachment to proteins 3
PHF21A PHD finger protein 21A
PIGL phosphatidylinositol glycan anchor biosynthesis, class L
PIGO phosphatidylinositol glycan anchor biosynthesis, class O
PIGT phosphatidylinositol glycan anchor biosynthesis, class T
PIGV phosphatidylinositol glycan anchor biosynthesis, class V
PIGW phosphatidylinositol glycan anchor biosynthesis, class W
PIGY phosphatidylinositol glycan anchor biosynthesis, class Y
PNPLA6 patatin-like phospholipase domain containing 6
POGZ pogo transposable element with ZNF domain
POLR1C polymerase (RNA) I polypeptide C, 30kDa
POLR1D polymerase (RNA) I polypeptide D, 16kDa
POR P450 (cytochrome) oxidoreductase
PQBP1 polyglutamine binding protein 1
PRDM16 PR domain containing 16
PRKAR1A protein kinase, cAMP-dependent, regulatory, type I, alpha
PRKCD protein kinase C, delta
PTCH1 patched 1
PTCH2 patched 2
PTH1R parathyroid hormone 1 receptor
PTPN11 protein tyrosine phosphatase, non-receptor type 11
PTRH2 peptidyl-tRNA hydrolase 2
RAB18 RAB18, member RAS oncogene family
RAB23 RAB23, member RAS oncogene family
RAB3GAP1 RAB3 GTPase activating protein subunit 1 (catalytic)
RAB3GAP2 RAB3 GTPase activating protein subunit 2 (non-catalytic)
RAD21 RAD21 homolog (S. pombe)
RAF1 Raf-1 proto-oncogene, serine/threonine kinase
RAI1 retinoic acid induced 1
RBM8A RNA binding motif protein 8A
RERE arginine-glutamic acid dipeptide (RE) repeats
RNF216 ring finger protein 216
RUNX2 runt-related transcription factor 2
SATB2 SATB homeobox 2
SCN8A sodium channel, voltage gated, type VIII alpha subunit
SETBP1 SET binding protein 1
SETD5 SET domain containing 5
SIM1 single-minded family bHLH transcription factor 1
SKI SKI proto-oncogene
SLC12A6 solute carrier family 12 (potassium/chloride transporter), member 6
SLC25A24 solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 24
SMAD6 SMAD family member 6
SMC1A structural maintenance of chromosomes 1A
SMC3 structural maintenance of chromosomes 3
SMOC2 SPARC related modular calcium binding 2
SMS spermine synthase
SOS1 son of sevenless homolog 1 (Drosophila)
SPATA5 spermatogenesis associated 5
SPECC1L sperm antigen with calponin homology and coiled-coil domains 1-like
SRD5A3 steroid 5 alpha-reductase 3
STAC3 SH3 and cysteine rich domain 3
SUFU suppressor of fused homolog (Drosophila)
TAPT1 transmembrane anterior posterior transformation 1
TBC1D24 TBC1 domain family, member 24
TBL1XR1 transducin (beta)-like 1 X-linked receptor 1
TBX2 T-box 2
TCF12 transcription factor 12
TCF20 transcription factor 20 (AR1)
TCF4 transcription factor 4
TCOF1 Treacher Collins-Franceschetti syndrome 1
TDP2 tyrosyl-DNA phosphodiesterase 2
TECPR2 tectonin beta-propeller repeat containing 2
THAP11 THAP domain containing 11
TMCO1 transmembrane and coiled-coil domains 1
TNFRSF13B tumor necrosis factor receptor superfamily, member 13B
TNFRSF13C tumor necrosis factor receptor superfamily, member 13C
TNFSF12 tumor necrosis factor (ligand) superfamily, member 12
TRAPPC9 trafficking protein particle complex 9
TTC8 tetratricopeptide repeat domain 8
TUBB tubulin, beta class I
TWIST1 twist family bHLH transcription factor 1
UBE3A ubiquitin protein ligase E3A
UBE3B ubiquitin protein ligase E3B
UNC80 unc-80 homolog (C. elegans)
UPF3B UPF3 regulator of nonsense transcripts homolog B (yeast)
USP9X ubiquitin specific peptidase 9, X-linked
WAC WW domain containing adaptor with coiled-coil
WASHC5 WASH complex subunit 5
WDR35 WD repeat domain 35
XRCC4 X-ray repair complementing defective repair in Chinese hamster cells 4
ZBTB20 zinc finger and BTB domain containing 20
ZDHHC9 zinc finger, DHHC-type containing 9
ZIC1 Zic family member 1
ZSWIM6 zinc finger, SWIM-type containing 6