abnormality of the zygomatic bone Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description An abnormality of the zygomatic bone. (Human Phenotype Ontology, HP_0010668)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0010668
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Genes

66 genes associated with the abnormality of the zygomatic bone phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
ARVCF armadillo repeat gene deleted in velocardiofacial syndrome
BAZ1B bromodomain adjacent to zinc finger domain, 1B
BCR breakpoint cluster region
BLM Bloom syndrome, RecQ helicase-like
BMP2 bone morphogenetic protein 2
BRAF B-Raf proto-oncogene, serine/threonine kinase
CHD7 chromodomain helicase DNA binding protein 7
CLIP2 CAP-GLY domain containing linker protein 2
COL11A1 collagen, type XI, alpha 1
COL11A2 collagen, type XI, alpha 2
COL2A1 collagen, type II, alpha 1
COMT catechol-O-methyltransferase
CRKL v-crk avian sarcoma virus CT10 oncogene homolog-like
DHODH dihydroorotate dehydrogenase (quinone)
EBP emopamil binding protein (sterol isomerase)
ELN elastin
ESCO2 establishment of sister chromatid cohesion N-acetyltransferase 2
FGFR2 fibroblast growth factor receptor 2
FGFR3 fibroblast growth factor receptor 3
GORAB golgin, RAB6-interacting
GP1BB glycoprotein Ib (platelet), beta polypeptide
GTF2I general transcription factor IIi
GTF2IRD1 GTF2I repeat domain containing 1
HIRA histone cell cycle regulator
KIF7 kinesin family member 7
KRAS Kirsten rat sarcoma viral oncogene homolog
LIMK1 LIM domain kinase 1
LRP4 low density lipoprotein receptor-related protein 4
MAP2K1 mitogen-activated protein kinase kinase 1
MAP2K2 mitogen-activated protein kinase kinase 2
MAPK1 mitogen-activated protein kinase 1
MED12 mediator complex subunit 12
NDP Norrie disease (pseudoglioma)
NF1 neurofibromin 1
NOTCH2 notch 2
OFD1 oral-facial-digital syndrome 1
PEPD peptidase D
PIK3R1 phosphoinositide-3-kinase, regulatory subunit 1 (alpha)
POLR1C polymerase (RNA) I polypeptide C, 30kDa
POLR1D polymerase (RNA) I polypeptide D, 16kDa
PVRL1 poliovirus receptor-related 1 (herpesvirus entry mediator C)
PYCR1 pyrroline-5-carboxylate reductase 1
RAB3GAP1 RAB3 GTPase activating protein subunit 1 (catalytic)
RAB3GAP2 RAB3 GTPase activating protein subunit 2 (non-catalytic)
RAB40AL RAB40A, member RAS oncogene family-like
RFC2 replication factor C (activator 1) 2, 40kDa
RNU4ATAC RNA, U4atac small nuclear (U12-dependent splicing)
SCARF2 scavenger receptor class F, member 2
SEMA3E sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E
SF3B4 splicing factor 3b, subunit 4, 49kDa
SLC16A2 solute carrier family 16, member 2 (thyroid hormone transporter)
SLC2A10 solute carrier family 2 (facilitated glucose transporter), member 10
SLC6A8 solute carrier family 6 (neurotransmitter transporter), member 8
SLCO5A1 solute carrier organic anion transporter family, member 5A1
SULF1 sulfatase 1
TAT tyrosine aminotransferase
TBL2 transducin (beta)-like 2
TBX1 T-box 1
TBX22 T-box 22
TCOF1 Treacher Collins-Franceschetti syndrome 1
TGFBR1 transforming growth factor, beta receptor 1
TGFBR2 transforming growth factor, beta receptor II (70/80kDa)
UFD1L ubiquitin fusion degradation 1 like (yeast)
UPF3B UPF3 regulator of nonsense transcripts homolog B (yeast)
VPS13B vacuolar protein sorting 13 homolog B (yeast)
ZDHHC9 zinc finger, DHHC-type containing 9