Blepharophimosis Gene Set

Dataset DisGeNET Gene-Disease Associations
Category disease or phenotype associations
Type disease
External Link https://www.disgenet.org/browser/0/1/0/C0796094
Similar Terms
Downloads & Tools

Genes

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

Symbol Name
ABCC9 ATP-binding cassette, sub-family C (CFTR/MRP), member 9
ADNP activity-dependent neuroprotector homeobox
AICDA activation-induced cytidine deaminase
ALB albumin
ANK1 ankyrin 1, erythrocytic
ARID1B AT rich interactive domain 1B (SWI1-like)
ARID2 AT rich interactive domain 2 (ARID, RFX-like)
ATP6V1A ATPase, H+ transporting, lysosomal 70kDa, V1 subunit A
ATR ATR serine/threonine kinase
BAZ1B bromodomain adjacent to zinc finger domain, 1B
BCOR BCL6 corepressor
BCR breakpoint cluster region
BRCA1 breast cancer 1, early onset
BRPF1 bromodomain and PHD finger containing, 1
CHN1 chimerin 1
CLIP2 CAP-GLY domain containing linker protein 2
COL25A1 collagen, type XXV, alpha 1
COLEC10 collectin sub-family member 10 (C-type lectin)
COLEC11 collectin sub-family member 11
CRKL v-crk avian sarcoma virus CT10 oncogene homolog-like
CUL4B cullin 4B
DACT1 dishevelled-binding antagonist of beta-catenin 1
DCHS1 dachsous cadherin-related 1
DGCR2 DiGeorge syndrome critical region gene 2
DGCR6 DiGeorge syndrome critical region gene 6
DGCR8 DGCR8 microprocessor complex subunit
DNMT3A DNA (cytosine-5-)-methyltransferase 3 alpha
ELN elastin
ERCC1 excision repair cross-complementation group 1
ERCC6 excision repair cross-complementation group 6
ERF Ets2 repressor factor
ESS2 ess-2 splicing factor homolog
FAT4 FAT atypical cadherin 4
FOXG1 forkhead box G1
FOXL2 forkhead box L2
FOXP1 forkhead box P1
GATAD2B GATA zinc finger domain containing 2B
GJA1 gap junction protein, alpha 1, 43kDa
GPC6 glypican 6
GPKOW G patch domain and KOW motifs
GTF2I general transcription factor IIi
GTF2IRD1 GTF2I repeat domain containing 1
HHAT hedgehog acyltransferase
HNF1B HNF1 homeobox B
HSPG2 heparan sulfate proteoglycan 2
HUWE1 HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase
KANSL1 KAT8 regulatory NSL complex subunit 1
KAT6B K(lysine) acetyltransferase 6B
KCNJ2 potassium channel, inwardly rectifying subfamily J, member 2
KIFBP kinesin family binding protein
KMT2A lysine (K)-specific methyltransferase 2A
KRAS Kirsten rat sarcoma viral oncogene homolog
LHCGR luteinizing hormone/choriogonadotropin receptor
LIG4 ligase IV, DNA, ATP-dependent
LIMK1 LIM domain kinase 1
LMNA lamin A/C
MAFB v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog B
MAPK1 mitogen-activated protein kinase 1
MASP1 mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor)
MCTP2 multiple C2 domains, transmembrane 2
MECP2 methyl CpG binding protein 2
MED12 mediator complex subunit 12
MED25 mediator complex subunit 25
MLXIPL MLX interacting protein-like
MOGS mannosyl-oligosaccharide glucosidase
MUSK muscle, skeletal, receptor tyrosine kinase
MYCN v-myc avian myelocytomatosis viral oncogene neuroblastoma derived homolog
MYH3 myosin, heavy chain 3, skeletal muscle, embryonic
NFIB nuclear factor I/B
NSUN2 NOP2/Sun RNA methyltransferase family, member 2
ORC1 origin recognition complex, subunit 1
OSR2 odd-skipped related transciption factor 2
OXA1L oxidase (cytochrome c) assembly 1-like
PAX3 paired box 3
PHF6 PHD finger protein 6
PIEZO2 piezo-type mechanosensitive ion channel component 2
PIK3CB phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit beta
PYCR1 pyrroline-5-carboxylate reductase 1
RAB18 RAB18, member RAS oncogene family
RBMX RNA binding motif protein, X-linked
RECQL4 RecQ protein-like 4
RFC2 replication factor C (activator 1) 2, 40kDa
SALL1 spalt-like transcription factor 1
SCARF2 scavenger receptor class F, member 2
SEPT9 septin 9
SETD5 SET domain containing 5
SLC2A10 solute carrier family 2 (facilitated glucose transporter), member 10
SLC6A17 solute carrier family 6 (neutral amino acid transporter), member 17
SMAD4 SMAD family member 4
SMARCA2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2
SMO smoothened, frizzled class receptor
SMOC1 SPARC related modular calcium binding 1
SOX14 SRY (sex determining region Y)-box 14
SOX9 SRY (sex determining region Y)-box 9
STAC3 SH3 and cysteine rich domain 3
STRA6 stimulated by retinoic acid 6
TBL2 transducin (beta)-like 2
TBX1 T-box 1
TBX15 T-box 15
TBX20 T-box 20
THOC6 THO complex 6
TLK2 tousled-like kinase 2
TP63 tumor protein p63
TRA T cell receptor alpha locus
TUBB tubulin, beta class I
TXNL4A thioredoxin-like 4A
UBE3B ubiquitin protein ligase E3B
UROD uroporphyrinogen decarboxylase
WDR35 WD repeat domain 35
ZIC4 Zic family member 4
ZMPSTE24 zinc metallopeptidase STE24