telecanthus Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description Distance between the inner canthi more than two standard deviations above the mean (objective); or, apparently increased distance between the inner canthi. (Human Phenotype Ontology, HP_0000506)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0000506
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Genes

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

Symbol Name
ACTB actin, beta
ACTG1 actin gamma 1
ADAMTS18 ADAM metallopeptidase with thrombospondin type 1 motif, 18
AKT3 v-akt murine thymoma viral oncogene homolog 3
ALX4 ALX homeobox 4
ANKH ANKH inorganic pyrophosphate transport regulator
ANKRD11 ankyrin repeat domain 11
ARVCF armadillo repeat gene deleted in velocardiofacial syndrome
ATRX alpha thalassemia/mental retardation syndrome X-linked
B3GALT6 UDP-Gal:betaGal beta 1,3-galactosyltransferase polypeptide 6
B4GALT7 xylosylprotein beta 1,4-galactosyltransferase, polypeptide 7
C12ORF57 chromosome 12 open reading frame 57
C2CD3 C2 calcium-dependent domain containing 3
CCND2 cyclin D2
CHL1 cell adhesion molecule L1-like
CHRNG cholinergic receptor, nicotinic, gamma (muscle)
CHST14 carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 14
CNTN4 contactin 4
COL3A1 collagen, type III, alpha 1
COMT catechol-O-methyltransferase
CRBN cereblon
DDHD2 DDHD domain containing 2
DOCK7 dedicator of cytokinesis 7
DOK7 docking protein 7
DSE dermatan sulfate epimerase
EDN3 endothelin 3
EDNRB endothelin receptor type B
EFNB1 ephrin-B1
EFTUD2 elongation factor Tu GTP binding domain containing 2
ERF Ets2 repressor factor
ETFA electron-transfer-flavoprotein, alpha polypeptide
ETFB electron-transfer-flavoprotein, beta polypeptide
ETFDH electron-transferring-flavoprotein dehydrogenase
FAM58A family with sequence similarity 58, member A
FBN1 fibrillin 1
FGF10 fibroblast growth factor 10
FGFR1 fibroblast growth factor receptor 1
FGFR2 fibroblast growth factor receptor 2
FGFR3 fibroblast growth factor receptor 3
FOXC1 forkhead box C1
FOXL2 forkhead box L2
GJA1 gap junction protein, alpha 1, 43kDa
GLI3 GLI family zinc finger 3
GP1BB glycoprotein Ib (platelet), beta polypeptide
HDAC8 histone deacetylase 8
HHAT hedgehog acyltransferase
HIRA histone cell cycle regulator
HRAS Harvey rat sarcoma viral oncogene homolog
IFT122 intraflagellar transport 122
IFT43 intraflagellar transport 43
KCTD1 potassium channel tetramerization domain containing 1
KIF1BP KIF1 binding protein
KRAS Kirsten rat sarcoma viral oncogene homolog
LIG4 ligase IV, DNA, ATP-dependent
MAFB v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog B
MID1 midline 1
MITF microphthalmia-associated transcription factor
MYH3 myosin, heavy chain 3, skeletal muscle, embryonic
NOTCH2 notch 2
NSUN2 NOP2/Sun RNA methyltransferase family, member 2
OFD1 oral-facial-digital syndrome 1
PAX3 paired box 3
PIK3R1 phosphoinositide-3-kinase, regulatory subunit 1 (alpha)
PIK3R2 phosphoinositide-3-kinase, regulatory subunit 2 (beta)
PITX2 paired-like homeodomain 2
PTCH1 patched 1
RAB23 RAB23, member RAS oncogene family
RAB40AL RAB40A, member RAS oncogene family-like
RAPSN receptor-associated protein of the synapse
RPS6KA3 ribosomal protein S6 kinase, 90kDa, polypeptide 3
SKI SKI proto-oncogene
SLCO5A1 solute carrier organic anion transporter family, member 5A1
SNAI2 snail family zinc finger 2
SOX10 SRY (sex determining region Y)-box 10
SRCAP Snf2-related CREBBP activator protein
STAC3 SH3 and cysteine rich domain 3
SULF1 sulfatase 1
TBX1 T-box 1
TFAP2A transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha)
UBE3B ubiquitin protein ligase E3B
UFD1L ubiquitin fusion degradation 1 like (yeast)
WDR35 WD repeat domain 35
ZSWIM6 zinc finger, SWIM-type containing 6