Synophrys Gene Set

Dataset DisGeNET Gene-Disease Associations
Category disease or phenotype associations
Type disease
Description Meeting of the medial eyebrows in the midline. (Human Phenotype Ontology, HP_0000664)
External Link https://www.disgenet.org/browser/0/1/0/C0431447
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Genes

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

Symbol Name
ABCA5 ATP-binding cassette, sub-family A (ABC1), member 5
ABCC9 ATP-binding cassette, sub-family C (CFTR/MRP), member 9
AIP aryl hydrocarbon receptor interacting protein
ANKRD11 ankyrin repeat domain 11
ARX aristaless related homeobox
ASXL1 additional sex combs like transcriptional regulator 1
ASXL3 additional sex combs like transcriptional regulator 3
ATP6V1B2 ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B2
BMP2 bone morphogenetic protein 2
BPTF bromodomain PHD finger transcription factor
CASC5 cancer susceptibility candidate 5
CCDC47 coiled-coil domain containing 47
CDC42 cell division cycle 42
CDH11 cadherin 11, type 2, OB-cadherin (osteoblast)
CDK10 cyclin-dependent kinase 10
CDON cell adhesion associated, oncogene regulated
CERT1 ceramide transporter 1
CHSY1 chondroitin sulfate synthase 1
CREBBP CREB binding protein
CSNK2A1 casein kinase 2, alpha 1 polypeptide
CUL4B cullin 4B
CWF19L1 CWF19-like 1, cell cycle control (S. pombe)
DEAF1 DEAF1 transcription factor
DHX30 DEAH (Asp-Glu-Ala-His) box helicase 30
EBF3 early B-cell factor 3
EDN3 endothelin 3
EDNRB endothelin receptor type B
EED embryonic ectoderm development
EHMT1 euchromatic histone-lysine N-methyltransferase 1
ERLIN2 ER lipid raft associated 2
FGF3 fibroblast growth factor 3
FGFR1 fibroblast growth factor receptor 1
FGFR2 fibroblast growth factor receptor 2
FHL1 four and a half LIM domains 1
FLII flightless I homolog (Drosophila)
FREM1 FRAS1 related extracellular matrix 1
GJB2 gap junction protein, beta 2, 26kDa
GNE glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase
GNS glucosamine (N-acetyl)-6-sulfatase
GPR101 G protein-coupled receptor 101
GRIN2B glutamate receptor, ionotropic, N-methyl D-aspartate 2B
HDAC8 histone deacetylase 8
HGSNAT heparan-alpha-glucosaminide N-acetyltransferase
HMGA2 high mobility group AT-hook 2
HNRNPU heterogeneous nuclear ribonucleoprotein U (scaffold attachment factor A)
HSPA9 heat shock 70kDa protein 9 (mortalin)
IGF1R insulin-like growth factor 1 receptor
IL1RAPL1 interleukin 1 receptor accessory protein-like 1
IQSEC2 IQ motif and Sec7 domain 2
KCNH1 potassium channel, voltage gated eag related subfamily H, member 1
KCNK4 potassium channel, two pore domain subfamily K, member 4
KCTD7 potassium channel tetramerization domain containing 7
KIAA0195 KIAA0195
KIFBP kinesin family binding protein
KIT v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog
KLHL7 kelch-like family member 7
KMT2A lysine (K)-specific methyltransferase 2A
LEMD3 LEM domain containing 3
MAB21L1 mab-21-like 1 (C. elegans)
MBD5 methyl-CpG binding domain protein 5
MEFV Mediterranean fever
MITF microphthalmia-associated transcription factor
NAGLU N-acetylglucosaminidase, alpha
NANS N-acetylneuraminic acid synthase
NECTIN1 nectin cell adhesion molecule 1
NFIX nuclear factor I/X (CCAAT-binding transcription factor)
NIPBL Nipped-B homolog (Drosophila)
NOTCH2 notch 2
NSUN2 NOP2/Sun RNA methyltransferase family, member 2
PACS1 phosphofurin acidic cluster sorting protein 1
PACS2 phosphofurin acidic cluster sorting protein 2
PAX3 paired box 3
PHF8 PHD finger protein 8
PHIP pleckstrin homology domain interacting protein
PIGN phosphatidylinositol glycan anchor biosynthesis, class N
PMM2 phosphomannomutase 2
POLR3A polymerase (RNA) III (DNA directed) polypeptide A, 155kDa
PPP2R1A protein phosphatase 2, regulatory subunit A, alpha
PSMD12 proteasome (prosome, macropain) 26S subunit, non-ATPase, 12
RAD21 RAD21 homolog (S. pombe)
RAI1 retinoic acid induced 1
ROGDI rogdi homolog (Drosophila)
RUSC2 RUN and SH3 domain containing 2
SETBP1 SET binding protein 1
SETD5 SET domain containing 5
SGSH N-sulfoglucosamine sulfohydrolase
SLC25A24 solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 24
SMC1A structural maintenance of chromosomes 1A
SMC3 structural maintenance of chromosomes 3
SMS spermine synthase
SNAI2 snail family zinc finger 2
SOX10 SRY (sex determining region Y)-box 10
TAF1 TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa
TAF6 TAF6 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 80kDa
TALDO1 transaldolase 1
THOC6 THO complex 6
TMCO1 transmembrane and coiled-coil domains 1
TRAPPC9 trafficking protein particle complex 9
TRIO trio Rho guanine nucleotide exchange factor
TRMT1 tRNA methyltransferase 1 homolog (S. cerevisiae)
TTI2 TELO2 interacting protein 2
UBE2A ubiquitin-conjugating enzyme E2A
UQCC2 ubiquinol-cytochrome c reductase complex assembly factor 2
UTP23 UTP23, small subunit (SSU) processome component, homolog (yeast)
VPS33A vacuolar protein sorting 33 homolog A (S. cerevisiae)
WAC WW domain containing adaptor with coiled-coil
WNT4 wingless-type MMTV integration site family, member 4
XYLT1 xylosyltransferase I
ZBTB20 zinc finger and BTB domain containing 20
ZIC2 Zic family member 2
ZNF711 zinc finger protein 711