ectopic calcification Gene Set

Dataset GWASdb SNP-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description Deposition of calcium salts in a tissue or location in which calcification does not normally occur. (Human Phenotype Ontology, HP_0010766)
External Link http://jjwanglab.org/gwasdb/gwasdb2/gwasdb2/go_trait/HP:0010766
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Genes

133 genes associated with the ectopic calcification phenotype in GWAS datasets from the GWASdb SNP-Phenotype Associations dataset.

Symbol Name Standardized Value
CASR calcium-sensing receptor 2.21075
CDKN2B-AS1 CDKN2B antisense RNA 1 1.17747
LPA lipoprotein, Lp(a) 1.15482
PPAP2B phosphatidic acid phosphatase type 2B 1.06514
CSTA cystatin A (stefin A) 1.03132
ZC3HC1 zinc finger, C3HC-type containing 1 0.997198
ADAMTS7 ADAM metallopeptidase with thrombospondin type 1 motif, 7 0.57041
TCF21 transcription factor 21 0.57041
CCDC58 coiled-coil domain containing 58 0.555784
CYP24A1 cytochrome P450, family 24, subfamily A, polypeptide 1 0.519913
FAM162A family with sequence similarity 162, member A 0.492447
DGKD diacylglycerol kinase, delta 130kDa 0.476375
GCKR glucokinase (hexokinase 4) regulator 0.471675
CARS cysteinyl-tRNA synthetase 0.471675
HHIPL1 HHIP-like 1 0.468679
PARP9 poly (ADP-ribose) polymerase family, member 9 0.424505
SMARCA4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 0.424466
CNNM2 cyclin and CBS domain divalent metal cation transport mediator 2 0.42375
WDR12 WD repeat domain 12 0.422699
PHACTR1 phosphatase and actin regulator 1 0.422368
SMG6 SMG6 nonsense mediated mRNA decay factor 0.422368
KPNA1 karyopherin alpha 1 (importin alpha 5) 0.420836
COL4A2 collagen, type IV, alpha 2 0.411834
ANKS1A ankyrin repeat and sterile alpha motif domain containing 1A 0.405644
MIA3 melanoma inhibitory activity family, member 3 0.405644
UBE2Z ubiquitin-conjugating enzyme E2Z 0.404206
WDR5B WD repeat domain 5B 0.402567
MRAS muscle RAS oncogene homolog 0.401061
WDR81 WD repeat domain 81 0.379688
ARID1B AT rich interactive domain 1B (SWI1-like) 0.377459
MIR22HG MIR22 host gene 0.367966
CD109 CD109 molecule 0.367064
C11ORF40 chromosome 11 open reading frame 40 0.365507
SERPINF2 serpin peptidase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 2 0.3644
OPTC opticin 0.363989
PCSK5 proprotein convertase subtilisin/kexin type 5 0.36298
RGS14 regulator of G-protein signaling 14 0.362606
PYGB phosphorylase, glycogen; brain 0.362606
POTEA POTE ankyrin domain family, member A 0.36125
TUBA3C tubulin, alpha 3c 0.36076
SH2B3 SH2B adaptor protein 3 0.360424
SUFU suppressor of fused homolog (Drosophila) 0.359032
OPCML opioid binding protein/cell adhesion molecule-like 0.357551
SPRR2B small proline-rich protein 2B 0.357115
SYT6 synaptotagmin VI 0.356308
SLCO3A1 solute carrier organic anion transporter family, member 3A1 0.356178
SOX5 SRY (sex determining region Y)-box 5 0.354966
TRIM6 tripartite motif containing 6 0.352851
PLXNA4 plexin A4 0.352711
ACTR1A ARP1 actin-related protein 1 homolog A, centractin alpha (yeast) 0.351537
TTC27 tetratricopeptide repeat domain 27 0.350828
RALA v-ral simian leukemia viral oncogene homolog A (ras related) 0.350187
DUSP27 dual specificity phosphatase 27 (putative) 0.349785
USP13 ubiquitin specific peptidase 13 (isopeptidase T-3) 0.349291
GRID2 glutamate receptor, ionotropic, delta 2 0.349237
OFCC1 orofacial cleft 1 candidate 1 0.348818
RASSF6 Ras association (RalGDS/AF-6) domain family member 6 0.348665
TRIB2 tribbles pseudokinase 2 0.347746
RPH3AL rabphilin 3A-like (without C2 domains) 0.347294
TMEM180 transmembrane protein 180 0.347294
UNC5B unc-5 homolog B (C. elegans) 0.345286
ANKRD36B ankyrin repeat domain 36B 0.344927
IRF6 interferon regulatory factor 6 0.344649
NELL1 NEL-like 1 (chicken) 0.343636
PDK4 pyruvate dehydrogenase kinase, isozyme 4 0.343
ASIC2 acid sensing (proton gated) ion channel 2 0.342683
RNF152 ring finger protein 152 0.342283
ILDR2 immunoglobulin-like domain containing receptor 2 0.342074
FAM187B family with sequence similarity 187, member B 0.342014
ITGA11 integrin, alpha 11 0.341868
SLC13A5 solute carrier family 13 (sodium-dependent citrate transporter), member 5 0.341839
FOXN3 forkhead box N3 0.341781
TMEM14A transmembrane protein 14A 0.341609
BCKDHB branched chain keto acid dehydrogenase E1, beta polypeptide 0.341552
ZNF415 zinc finger protein 415 0.341468
SLC2A14 solute carrier family 2 (facilitated glucose transporter), member 14 0.340681
CPEB3 cytoplasmic polyadenylation element binding protein 3 0.340681
SGCZ sarcoglycan, zeta 0.340095
EGFLAM EGF-like, fibronectin type III and laminin G domains 0.34007
SPRR2D small proline-rich protein 2D 0.339922
TUBGCP3 tubulin, gamma complex associated protein 3 0.339873
DIEXF digestive organ expansion factor homolog (zebrafish) 0.339656
ZNF676 zinc finger protein 676 0.339051
SPRR1B small proline-rich protein 1B 0.338983
HGSNAT heparan-alpha-glucosaminide N-acetyltransferase 0.338542
CDH13 cadherin 13 0.338328
CDH6 cadherin 6, type 2, K-cadherin (fetal kidney) 0.338328
HLCS holocarboxylase synthetase (biotin-(proprionyl-CoA-carboxylase (ATP-hydrolysing)) ligase) 0.338117
UBE2K ubiquitin-conjugating enzyme E2K 0.337708
FAM13A family with sequence similarity 13, member A 0.337688
ADAM12 ADAM metallopeptidase domain 12 0.337569
DSCAM Down syndrome cell adhesion molecule 0.337392
ADGRD1 adhesion G protein-coupled receptor D1 0.337314
KCNQ5 potassium channel, voltage gated KQT-like subfamily Q, member 5 0.33716
CNTN5 contactin 5 0.337084
STAB2 stabilin 2 0.336952
DAPK1 death-associated protein kinase 1 0.336821
ERBB4 erb-b2 receptor tyrosine kinase 4 0.336385
MB myoglobin 0.336208
KDSR 3-ketodihydrosphingosine reductase 0.336051
CSMD1 CUB and Sushi multiple domains 1 0.336051
FLT1 fms-related tyrosine kinase 1 0.335965
BMPR1B bone morphogenetic protein receptor, type IB 0.335527
HOOK3 hook microtubule-tethering protein 3 0.335363
ARHGAP24 Rho GTPase activating protein 24 0.335363
NCK2 NCK adaptor protein 2 0.33517
EPHX1 epoxide hydrolase 1, microsomal (xenobiotic) 0.334541
PAK7 p21 protein (Cdc42/Rac)-activated kinase 7 0.334254
SLIT1 slit homolog 1 (Drosophila) 0.334039
PTPRN2 protein tyrosine phosphatase, receptor type, N polypeptide 2 0.333556
AGXT alanine-glyoxylate aminotransferase 0.333556
SMOC1 SPARC related modular calcium binding 1 0.333556
ARHGAP10 Rho GTPase activating protein 10 0.333322
COL23A1 collagen, type XXIII, alpha 1 0.333214
COG5 component of oligomeric golgi complex 5 0.333153
DIRC3 disrupted in renal carcinoma 3 0.333092
PTPRB protein tyrosine phosphatase, receptor type, B 0.332941
E2F1 E2F transcription factor 1 0.332644
GFRA2 GDNF family receptor alpha 2 0.332283
KCNJ11 potassium channel, inwardly rectifying subfamily J, member 11 0.331877
ZPR1 ZPR1 zinc finger 0.331822
SPTBN1 spectrin, beta, non-erythrocytic 1 0.331767
MAST2 microtubule associated serine/threonine kinase 2 0.33174
ABTB2 ankyrin repeat and BTB (POZ) domain containing 2 0.331645
PTPN9 protein tyrosine phosphatase, non-receptor type 9 0.331604
C2ORF54 chromosome 2 open reading frame 54 0.331524
PPARD peroxisome proliferator-activated receptor delta 0.331391
P3H2 prolyl 3-hydroxylase 2 0.331285
CBFA2T2 core-binding factor, runt domain, alpha subunit 2; translocated to, 2 0.331259
ARHGEF3 Rho guanine nucleotide exchange factor (GEF) 3 0.331233
FHIT fragile histidine triad 0.331
TBX5 T-box 5 0.304587
CAMK1D calcium/calmodulin-dependent protein kinase ID 0.294083