Exophthalmos Gene Set

Dataset DisGeNET Gene-Disease Associations
Category disease or phenotype associations
Type disease
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 https://www.disgenet.org/browser/0/1/0/C0015300
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Genes

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

Symbol Name
A2ML1 alpha-2-macroglobulin-like 1
ABCA12 ATP-binding cassette, sub-family A (ABC1), member 12
ABCA5 ATP-binding cassette, sub-family A (ABC1), member 5
AFF4 AF4/FMR2 family, member 4
AKT1 v-akt murine thymoma viral oncogene homolog 1
ALG1 ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase
ALG9 ALG9, alpha-1,2-mannosyltransferase
ALPL alkaline phosphatase, liver/bone/kidney
APC adenomatous polyposis coli
ASPM asp (abnormal spindle) homolog, microcephaly associated (Drosophila)
ASXL1 additional sex combs like transcriptional regulator 1
ASXL2 additional sex combs like transcriptional regulator 2
ATXN3 ataxin 3
AUTS2 autism susceptibility candidate 2
B3GALT6 UDP-Gal:betaGal beta 1,3-galactosyltransferase polypeptide 6
B4GALT7 xylosylprotein beta 1,4-galactosyltransferase, polypeptide 7
BANF1 barrier to autointegration factor 1
BCAR1 breast cancer anti-estrogen resistance 1
BGN biglycan
BPNT2 3'(2'), 5'-bisphosphate nucleotidase 2
BRAF B-Raf proto-oncogene, serine/threonine kinase
BRCA1 breast cancer 1, early onset
BRCA2 breast cancer 2, early onset
BRIP1 BRCA1 interacting protein C-terminal helicase 1
CANT1 calcium activated nucleotidase 1
CCN2 cellular communication network factor 2
CDC45 cell division cycle 45
CDH11 cadherin 11, type 2, OB-cadherin (osteoblast)
CDKN1C cyclin-dependent kinase inhibitor 1C (p57, Kip2)
CDON cell adhesion associated, oncogene regulated
CITED2 Cbp/p300-interacting transactivator, with Glu/Asp-rich carboxy-terminal domain, 2
CKAP2L cytoskeleton associated protein 2-like
CLP1 cleavage and polyadenylation factor I subunit 1
COG4 component of oligomeric golgi complex 4
COL11A1 collagen, type XI, alpha 1
COL11A2 collagen, type XI, alpha 2
COL18A1 collagen, type XVIII, alpha 1
COL1A1 collagen, type I, alpha 1
COL2A1 collagen, type II, alpha 1
COL3A1 collagen, type III, alpha 1
CPLX1 complexin 1
CREBBP CREB binding protein
CRIPT cysteine-rich PDZ-binding protein
CRTAP cartilage associated protein
CSE1L CSE1 chromosome segregation 1-like (yeast)
CTBP1 C-terminal binding protein 1
CTLA4 cytotoxic T-lymphocyte-associated protein 4
CTNND1 catenin (cadherin-associated protein), delta 1
CTSK cathepsin K
DDR2 discoidin domain receptor tyrosine kinase 2
DHCR7 7-dehydrocholesterol reductase
DMD dystrophin
DVL1 dishevelled segment polarity protein 1
DVL3 dishevelled segment polarity protein 3
DYNC1I2 dynein, cytoplasmic 1, intermediate chain 2
EFEMP2 EGF containing fibulin-like extracellular matrix protein 2
ELMO2 engulfment and cell motility 2
EP300 E1A binding protein p300
ERCC4 excision repair cross-complementation group 4
ERF Ets2 repressor factor
ESCO2 establishment of sister chromatid cohesion N-acetyltransferase 2
EXOC6B exocyst complex component 6B
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
FGFRL1 fibroblast growth factor receptor-like 1
FIG4 FIG4 phosphoinositide 5-phosphatase
FLI1 Fli-1 proto-oncogene, ETS transcription factor
FLNA filamin A, alpha
FLNB filamin B, beta
FOXC1 forkhead box C1
FZD2 frizzled class receptor 2
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
GPHB5 glycoprotein hormone beta 5
GZF1 GDNF-inducible zinc finger protein 1
HERC1 HECT and RLD domain containing E3 ubiquitin protein ligase family member 1
HLA-DPA1 major histocompatibility complex, class II, DP alpha 1
HLA-DPB1 major histocompatibility complex, class II, DP beta 1
HUWE1 HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase
ICAM1 intercellular adhesion molecule 1
IFNA2 interferon, alpha 2
IFT81 intraflagellar transport 81
IGF1 insulin-like growth factor 1 (somatomedin C)
IGF1R insulin-like growth factor 1 receptor
IGF2 insulin-like growth factor 2
IL13 interleukin 13
IL2 interleukin 2
IL6 interleukin 6
IL6R interleukin 6 receptor
INSR insulin receptor
ITCH itchy E3 ubiquitin protein ligase
JAG1 jagged 1
KAT6B K(lysine) acetyltransferase 6B
KCNJ6 potassium channel, inwardly rectifying subfamily J, member 6
KCNQ1 potassium channel, voltage gated KQT-like subfamily Q, member 1
KLHL7 kelch-like family member 7
KRAS Kirsten rat sarcoma viral oncogene homolog
KRT20 keratin 20, type I
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
LZTR1 leucine-zipper-like transcription regulator 1
MAD2L2 MAD2 mitotic arrest deficient-like 2 (yeast)
MAFB v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog B
MATN4 matrilin 4
MBD5 methyl-CpG binding domain protein 5
MMP2 matrix metallopeptidase 2
MRAS muscle RAS oncogene homolog
MS4A1 membrane-spanning 4-domains, subfamily A, member 1
MUSK muscle, skeletal, receptor tyrosine kinase
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
NF2 neurofibromin 2 (merlin)
NFIX nuclear factor I/X (CCAAT-binding transcription factor)
NIPBL Nipped-B homolog (Drosophila)
NKX2-5 NK2 homeobox 5
NKX2-6 NK2 homeobox 6
NLRC4 NLR family, CARD domain containing 4
NLRP3 NLR family, pyrin domain containing 3
NOTCH3 notch 3
NRAS neuroblastoma RAS viral (v-ras) oncogene homolog
NSD2 nuclear receptor binding SET domain protein 2
NT5C3A 5'-nucleotidase, cytosolic IIIA
NXN nucleoredoxin
P3H1 prolyl 3-hydroxylase 1
P4HB prolyl 4-hydroxylase, beta polypeptide
PALB2 partner and localizer of BRCA2
PARS2 prolyl-tRNA synthetase 2, mitochondrial (putative)
PCLO piccolo presynaptic cytomatrix protein
PDGFB platelet-derived growth factor beta polypeptide
PDGFRB platelet-derived growth factor receptor, beta polypeptide
PEPD peptidase D
PHGDH phosphoglycerate dehydrogenase
POLD1 polymerase (DNA directed), delta 1, catalytic subunit
POR P450 (cytochrome) oxidoreductase
PPARG peroxisome proliferator-activated receptor gamma
PPP2CA protein phosphatase 2, catalytic subunit, alpha isozyme
PRTN3 proteinase 3
PRUNE1 prune exopolyphosphatase 1
PSAT1 phosphoserine aminotransferase 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)
RAD51 RAD51 recombinase
RAD51C RAD51 paralog C
RAF1 Raf-1 proto-oncogene, serine/threonine kinase
RASA2 RAS p21 protein activator 2
RBM19 RNA binding motif protein 19
RECQL4 RecQ protein-like 4
RFWD3 ring finger and WD repeat domain 3
RIT1 Ras-like without CAAX 1
ROR2 receptor tyrosine kinase-like orphan receptor 2
RRAS related RAS viral (r-ras) oncogene homolog
RTTN rotatin
RUNX1T1 runt-related transcription factor 1; translocated to, 1 (cyclin D-related)
SEC24D SEC24 family member D
SH3BP2 SH3-domain binding protein 2
SH3PXD2B SH3 and PX domains 2B
SHH sonic hedgehog
SKI SKI proto-oncogene
SLC16A2 solute carrier family 16, member 2 (thyroid hormone transporter)
SLC25A24 solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 24
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
SMARCB1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1
SMS spermine synthase
SOS1 son of sevenless homolog 1 (Drosophila)
SOS2 son of sevenless homolog 2 (Drosophila)
SOST sclerostin
SOX9 SRY (sex determining region Y)-box 9
SPECC1L sperm antigen with calponin homology and coiled-coil domains 1-like
SST somatostatin
STAG2 stromal antigen 2
SUFU suppressor of fused homolog (Drosophila)
TAF1 TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa
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
TNFRSF11A tumor necrosis factor receptor superfamily, member 11a, NFKB activator
TSHR thyroid stimulating hormone receptor
TTC37 tetratricopeptide repeat domain 37
TWIST1 twist family bHLH transcription factor 1
UBE2T ubiquitin-conjugating enzyme E2T
VAC14 Vac14 homolog (S. cerevisiae)
WDR4 WD repeat domain 4
WNT5A wingless-type MMTV integration site family, member 5A
XRCC2 X-ray repair complementing defective repair in Chinese hamster cells 2
XYLT1 xylosyltransferase I
ZFPM2 zinc finger protein, FOG family member 2
ZIC1 Zic family member 1
ZMPSTE24 zinc metallopeptidase STE24