proptosis Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description An eye disease that is characterized by a bulging of the eye anteriorly out of the orbit. (Human Disease Ontology, DOID_9370)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0000520
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Genes

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

Symbol Name
A2ML1 alpha-2-macroglobulin-like 1
ABCA12 ATP-binding cassette, sub-family A (ABC1), member 12
ADAMTS10 ADAM metallopeptidase with thrombospondin type 1 motif, 10
AKT1 v-akt murine thymoma viral oncogene homolog 1
ALPL alkaline phosphatase, liver/bone/kidney
ASXL1 additional sex combs like transcriptional regulator 1
ATXN3 ataxin 3
B3GALT6 UDP-Gal:betaGal beta 1,3-galactosyltransferase polypeptide 6
B4GALT7 xylosylprotein beta 1,4-galactosyltransferase, polypeptide 7
BANF1 barrier to autointegration factor 1
BRAF B-Raf proto-oncogene, serine/threonine kinase
BRCA2 breast cancer 2, early onset
BRIP1 BRCA1 interacting protein C-terminal helicase 1
CANT1 calcium activated nucleotidase 1
CDK5RAP2 CDK5 regulatory subunit associated protein 2
CDKN1C cyclin-dependent kinase inhibitor 1C (p57, Kip2)
CITED2 Cbp/p300-interacting transactivator, with Glu/Asp-rich carboxy-terminal domain, 2
CLP1 cleavage and polyadenylation factor I subunit 1
COL11A1 collagen, type XI, alpha 1
COL11A2 collagen, type XI, alpha 2
COL1A1 collagen, type I, alpha 1
COL2A1 collagen, type II, alpha 1
COL3A1 collagen, type III, alpha 1
CREBBP CREB binding protein
CRTAP cartilage associated protein
CTLA4 cytotoxic T-lymphocyte-associated protein 4
CTSK cathepsin K
DDR2 discoidin domain receptor tyrosine kinase 2
DHCR7 7-dehydrocholesterol reductase
DOK7 docking protein 7
EFEMP2 EGF containing fibulin-like extracellular matrix protein 2
ERCC4 excision repair cross-complementation group 4
ERF Ets2 repressor factor
ESCO2 establishment of sister chromatid cohesion N-acetyltransferase 2
FAM20C family with sequence similarity 20, member C
FANCA Fanconi anemia, complementation group A
FANCB Fanconi anemia, complementation group B
FANCC Fanconi anemia, complementation group C
FANCD2 Fanconi anemia, complementation group D2
FANCE Fanconi anemia, complementation group E
FANCF Fanconi anemia, complementation group F
FANCG Fanconi anemia, complementation group G
FANCI Fanconi anemia, complementation group I
FANCL Fanconi anemia, complementation group L
FANCM Fanconi anemia, complementation group M
FBN1 fibrillin 1
FGFR1 fibroblast growth factor receptor 1
FGFR2 fibroblast growth factor receptor 2
FGFR3 fibroblast growth factor receptor 3
FIG4 FIG4 phosphoinositide 5-phosphatase
FLNA filamin A, alpha
FLNB filamin B, beta
FOXC1 forkhead box C1
GATA4 GATA binding protein 4
GATA5 GATA binding protein 5
GATA6 GATA binding protein 6
GDF1 growth differentiation factor 1
GJA5 gap junction protein, alpha 5, 40kDa
H19 H19, imprinted maternally expressed transcript (non-protein coding)
HLA-DPB1 major histocompatibility complex, class II, DP beta 1
IMPAD1 inositol monophosphatase domain containing 1
INSR insulin receptor
ITCH itchy E3 ubiquitin protein ligase
JAG1 jagged 1
KAT6B K(lysine) acetyltransferase 6B
KCNQ1OT1 KCNQ1 opposite strand/antisense transcript 1 (non-protein coding)
KRAS Kirsten rat sarcoma viral oncogene homolog
LETM1 leucine zipper-EF-hand containing transmembrane protein 1
LMNA lamin A/C
LRP2 low density lipoprotein receptor-related protein 2
LRP4 low density lipoprotein receptor-related protein 4
MAFB v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog B
MMP2 matrix metallopeptidase 2
MYD88 myeloid differentiation primary response 88
NAA10 N(alpha)-acetyltransferase 10, NatA catalytic subunit
NBAS neuroblastoma amplified sequence
NDE1 nudE neurodevelopment protein 1
NELFA negative elongation factor complex member A
NFIX nuclear factor I/X (CCAAT-binding transcription factor)
NIPBL Nipped-B homolog (Drosophila)
NKX2-5 NK2 homeobox 5
NRAS neuroblastoma RAS viral (v-ras) oncogene homolog
NSD1 nuclear receptor binding SET domain protein 1
P3H1 prolyl 3-hydroxylase 1
PALB2 partner and localizer of BRCA2
PEPD peptidase D
PHGDH phosphoglycerate dehydrogenase
PLOD3 procollagen-lysine, 2-oxoglutarate 5-dioxygenase 3
POLD1 polymerase (DNA directed), delta 1, catalytic subunit
POR P450 (cytochrome) oxidoreductase
PRTN3 proteinase 3
PSAT1 phosphoserine aminotransferase 1
PTCH1 patched 1
PTEN phosphatase and tensin homolog
PTH1R parathyroid hormone 1 receptor
PTPN11 protein tyrosine phosphatase, non-receptor type 11
PTPN22 protein tyrosine phosphatase, non-receptor type 22 (lymphoid)
RAD51C RAD51 paralog C
RAF1 Raf-1 proto-oncogene, serine/threonine kinase
RAPSN receptor-associated protein of the synapse
RECQL4 RecQ protein-like 4
RIT1 Ras-like without CAAX 1
RNU4ATAC RNA, U4atac small nuclear (U12-dependent splicing)
ROR2 receptor tyrosine kinase-like orphan receptor 2
SERPINH1 serpin peptidase inhibitor, clade H (heat shock protein 47), member 1, (collagen binding protein 1)
SETBP1 SET binding protein 1
SH3BP2 SH3-domain binding protein 2
SH3PXD2B SH3 and PX domains 2B
SKI SKI proto-oncogene
SLC16A2 solute carrier family 16, member 2 (thyroid hormone transporter)
SLC29A3 solute carrier family 29 (equilibrative nucleoside transporter), member 3
SLC39A13 solute carrier family 39 (zinc transporter), member 13
SLX4 SLX4 structure-specific endonuclease subunit
SOS1 son of sevenless homolog 1 (Drosophila)
SOST sclerostin
SOX9 SRY (sex determining region Y)-box 9
TBX1 T-box 1
TCF12 transcription factor 12
TCTN3 tectonic family member 3
TGFB1 transforming growth factor, beta 1
TGFB3 transforming growth factor, beta 3
TGFBR1 transforming growth factor, beta receptor 1
TGFBR2 transforming growth factor, beta receptor II (70/80kDa)
THRB thyroid hormone receptor, beta
TTC37 tetratricopeptide repeat domain 37
TWIST1 twist family bHLH transcription factor 1
WHSC1 Wolf-Hirschhorn syndrome candidate 1
WNT5A wingless-type MMTV integration site family, member 5A
XYLT1 xylosyltransferase I
ZFPM2 zinc finger protein, FOG family member 2
ZMPSTE24 zinc metallopeptidase STE24