abnormality of transition element cation homeostasis Gene Set

Dataset GWASdb SNP-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description An abnormality of the homeostasis (concentration) of transition element cation. (Human Phenotype Ontology, HP_0011030)
External Link http://jjwanglab.org/gwasdb/gwasdb2/gwasdb2/go_trait/HP:0011030
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Genes

232 genes associated with the abnormality of transition element cation homeostasis phenotype in GWAS datasets from the GWASdb SNP-Phenotype Associations dataset.

Symbol Name Standardized Value
TF transferrin 1.38025
SELENBP1 selenium binding protein 1 1.22938
PCSK7 proprotein convertase subtilisin/kexin type 7 0.943205
SIK3 SIK family kinase 3 0.904956
PAFAH1B2 platelet-activating factor acetylhydrolase 1b, catalytic subunit 2 (30kDa) 0.840256
SIDT2 SID1 transmembrane family, member 2 0.771371
PPCDC phosphopantothenoylcysteine decarboxylase 0.501154
EPHA6 EPH receptor A6 0.496729
RAB6B RAB6B, member RAS oncogene family 0.471996
TAGLN transgelin 0.453108
TMPRSS6 transmembrane protease, serine 6 0.418924
HFE hemochromatosis 0.416514
SRPRB signal recognition particle receptor, B subunit 0.414366
APOA5 apolipoprotein A-V 0.408492
ZPR1 ZPR1 zinc finger 0.403246
BUD13 BUD13 homolog (S. cerevisiae) 0.402941
APOA4 apolipoprotein A-IV 0.399795
ANK2 ankyrin 2, neuronal 0.397617
CA1 carbonic anhydrase I 0.390657
CP ceruloplasmin (ferroxidase) 0.384957
SLC17A1 solute carrier family 17 (organic anion transporter), member 1 0.365189
CDV3 CDV3 homolog (mouse) 0.353489
TFR2 transferrin receptor 2 0.338997
FNTB farnesyltransferase, CAAX box, beta 0.336547
LRRC16A leucine rich repeat containing 16A 0.328357
LINC00536 long intergenic non-protein coding RNA 536 0.327409
TYR tyrosinase 0.324422
ABCG5 ATP-binding cassette, sub-family G (WHITE), member 5 0.318346
ADRA1A adrenoceptor alpha 1A 0.316471
MDN1 MDN1, midasin homolog (yeast) 0.315056
TRAK1 trafficking protein, kinesin binding 1 0.314295
TTC7B tetratricopeptide repeat domain 7B 0.314222
TCERG1L transcription elongation regulator 1-like 0.311139
LUZP2 leucine zipper protein 2 0.311139
KLHL13 kelch-like family member 13 0.311139
TMEM132C transmembrane protein 132C 0.310606
KLF12 Kruppel-like factor 12 0.310606
AGBL1 ATP/GTP binding protein-like 1 0.310098
KIRREL kin of IRRE like (Drosophila) 0.309614
SERPINA9 serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 9 0.30915
PLXDC2 plexin domain containing 2 0.30828
PARD3B par-3 family cell polarity regulator beta 0.307096
PLEKHH2 pleckstrin homology domain containing, family H (with MyTH4 domain) member 2 0.306374
PRPSAP2 phosphoribosyl pyrophosphate synthetase-associated protein 2 0.305377
MAD1L1 MAD1 mitotic arrest deficient-like 1 (yeast) 0.304122
LRRC17 leucine rich repeat containing 17 0.300932
RUNX1 runt-related transcription factor 1 0.299911
RFC3 replication factor C (activator 1) 3, 38kDa 0.299667
TENM4 teneurin transmembrane protein 4 0.299429
LMBRD1 LMBR1 domain containing 1 0.298083
GPHN gephyrin 0.295752
DLG2 discs, large homolog 2 (Drosophila) 0.295061
GHR growth hormone receptor 0.29473
ARSB arylsulfatase B 0.29473
TAF15 TAF15 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 68kDa 0.292761
KIAA1217 KIAA1217 0.291868
UNC5C unc-5 homolog C (C. elegans) 0.289129
SHC4 SHC (Src homology 2 domain containing) family, member 4 0.288921
AKAP6 A kinase (PRKA) anchor protein 6 0.288414
ITPR2 inositol 1,4,5-trisphosphate receptor, type 2 0.288414
ST6GALNAC6 ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 6 0.288315
ACBD3 acyl-CoA binding domain containing 3 0.288119
STOM stomatin 0.287643
SERPINA5 serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 5 0.287458
ATXN1 ataxin 1 0.286492
RBFOX1 RNA binding protein, fox-1 homolog (C. elegans) 1 0.2855
DOCK1 dedicator of cytokinesis 1 0.284571
PHIP pleckstrin homology domain interacting protein 0.284571
COL27A1 collagen, type XXVII, alpha 1 0.284571
LRRC3B leucine rich repeat containing 3B 0.284571
NCKAP5 NCK-associated protein 5 0.283696
GRM7 glutamate receptor, metabotropic 7 0.283443
ANKS1B ankyrin repeat and sterile alpha motif domain containing 1B 0.28287
SLC44A3 solute carrier family 44, member 3 0.282474
CACHD1 cache domain containing 1 0.281346
SPOCK3 sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 3 0.280639
ZBTB20 zinc finger and BTB domain containing 20 0.279447
SATB2 SATB homeobox 2 0.278703
ZNF202 zinc finger protein 202 0.278111
RIMS2 regulating synaptic membrane exocytosis 2 0.278111
MYEOV2 myeloma overexpressed 2 0.278111
TMEM225 transmembrane protein 225 0.275957
MADCAM1 mucosal vascular addressin cell adhesion molecule 1 0.272422
KYNU kynureninase 0.271291
SERPINF2 serpin peptidase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 2 0.270933
CSMD1 CUB and Sushi multiple domains 1 0.270243
ERC2 ELKS/RAB6-interacting/CAST family member 2 0.269585
RYR2 ryanodine receptor 2 (cardiac) 0.268935
LINC00371 long intergenic non-protein coding RNA 371 0.268589
DLGAP1 discs, large (Drosophila) homolog-associated protein 1 0.268317
OR6T1 olfactory receptor, family 6, subfamily T, member 1 0.267591
PTPRM protein tyrosine phosphatase, receptor type, M 0.267304
DPYSL2 dihydropyrimidinase-like 2 0.267272
C10ORF11 chromosome 10 open reading frame 11 0.267021
LINC00189 long intergenic non-protein coding RNA 189 0.266531
CAPN13 calpain 13 0.26644
CHST9 carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 9 0.265764
PTPRG protein tyrosine phosphatase, receptor type, G 0.265621
TGFBI transforming growth factor, beta-induced, 68kDa 0.265394
CASC15 cancer susceptibility candidate 15 (non-protein coding) 0.265254
GLI3 GLI family zinc finger 3 0.262635
TMCC3 transmembrane and coiled-coil domain family 3 0.261918
LPL lipoprotein lipase 0.260407
MED27 mediator complex subunit 27 0.259428
CTIF CBP80/20-dependent translation initiation factor 0.259027
PDE10A phosphodiesterase 10A 0.258784
CD109 CD109 molecule 0.258039
NELL1 NEL-like 1 (chicken) 0.257775
GBP6 guanylate binding protein family, member 6 0.257261
ZNF592 zinc finger protein 592 0.255965
UHRF1 ubiquitin-like with PHD and ring finger domains 1 0.254202
FAM19A2 family with sequence similarity 19 (chemokine (C-C motif)-like), member A2 0.252617
CHCHD6 coiled-coil-helix-coiled-coil-helix domain containing 6 0.250507
CTTNBP2 cortactin binding protein 2 0.249757
LOC100505776 0.249206
IST1 increased sodium tolerance 1 homolog (yeast) 0.248876
LIPC lipase, hepatic 0.247218
EPB41L3 erythrocyte membrane protein band 4.1-like 3 0.246924
FAM13A family with sequence similarity 13, member A 0.24449
GRM1 glutamate receptor, metabotropic 1 0.24424
MLLT3 myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 0.244075
TSHZ3 teashirt zinc finger homeobox 3 0.243354
NCS1 neuronal calcium sensor 1 0.242966
F13A1 coagulation factor XIII, A1 polypeptide 0.242438
MOB3B MOB kinase activator 3B 0.24229
MYO10 myosin X 0.242071
SIRPB2 signal-regulatory protein beta 2 0.241854
CDK5RAP1 CDK5 regulatory subunit associated protein 1 0.2415
SLC4A7 solute carrier family 4, sodium bicarbonate cotransporter, member 7 0.241221
KCNMA1 potassium channel, calcium activated large conductance subfamily M alpha, member 1 0.241015
LRTM2 leucine-rich repeats and transmembrane domains 2 0.240678
CHSY3 chondroitin sulfate synthase 3 0.239704
ATXN7L1 ataxin 7-like 1 0.239516
ALMS1 Alstrom syndrome protein 1 0.239331
WRN Werner syndrome, RecQ helicase-like 0.238785
SLC8A3 solute carrier family 8 (sodium/calcium exchanger), member 3 0.238084
PLXNC1 plexin C1 0.238084
ESD esterase D 0.238027
LOC100506474 uncharacterized LOC100506474 0.237801
SHISA6 shisa family member 6 0.236873
CCDC162P coiled-coil domain containing 162, pseudogene 0.236767
TREM1 triggering receptor expressed on myeloid cells 1 0.236714
KCTD17 potassium channel tetramerization domain containing 17 0.236557
LPAR5 lysophosphatidic acid receptor 5 0.236453
THSD7A thrombospondin, type I, domain containing 7A 0.236196
FABP3 fatty acid binding protein 3, muscle and heart 0.236196
EDAR ectodysplasin A receptor 0.235993
SLC8A1 solute carrier family 8 (sodium/calcium exchanger), member 1 0.235351
KCNQ5 potassium channel, voltage gated KQT-like subfamily Q, member 5 0.235255
MMRN1 multimerin 1 0.235159
NFASC neurofascin 0.235016
ALPK3 alpha-kinase 3 0.234594
COLQ collagen-like tail subunit (single strand of homotrimer) of asymmetric acetylcholinesterase 0.234048
PAK6 p21 protein (Cdc42/Rac)-activated kinase 6 0.233008
ELMOD2 ELMO/CED-12 domain containing 2 0.232966
DLGAP3 discs, large (Drosophila) homolog-associated protein 3 0.232717
NUMB numb homolog (Drosophila) 0.232512
SH3GL2 SH3-domain GRB2-like 2 0.232431
MRPL3 mitochondrial ribosomal protein L3 0.232269
PTPRD protein tyrosine phosphatase, receptor type, D 0.232269
SOGA1 suppressor of glucose, autophagy associated 1 0.23215
PARK2 parkin RBR E3 ubiquitin protein ligase 0.23215
SIM2 single-minded family bHLH transcription factor 2 0.23211
ADGB androglobin 0.23164
FARP1 FERM, RhoGEF (ARHGEF) and pleckstrin domain protein 1 (chondrocyte-derived) 0.231448
GCM1 glial cells missing homolog 1 (Drosophila) 0.231296
TSPEAR thrombospondin-type laminin G domain and EAR repeats 0.230922
ALOX5AP arachidonate 5-lipoxygenase-activating protein 0.230775
NALCN sodium leak channel, non selective 0.230557
CNTNAP5 contactin associated protein-like 5 0.230164
CHSY1 chondroitin sulfate synthase 1 0.229781
MEGF11 multiple EGF-like-domains 11 0.229781
KLHL14 kelch-like family member 14 0.229746
OLFM1 olfactomedin 1 0.229474
EIF6 eukaryotic translation initiation factor 6 0.228686
SUGP1 SURP and G patch domain containing 1 0.228179
CACNA2D3 calcium channel, voltage-dependent, alpha 2/delta subunit 3 0.228144
AGPAT4 1-acylglycerol-3-phosphate O-acyltransferase 4 0.227791
ENPP4 ectonucleotide pyrophosphatase/phosphodiesterase 4 (putative) 0.227652
PALLD palladin, cytoskeletal associated protein 0.226805
KDM4B lysine (K)-specific demethylase 4B 0.226805
LYSMD2 LysM, putative peptidoglycan-binding, domain containing 2 0.226772
C1ORF100 chromosome 1 open reading frame 100 0.225807
DLC1 DLC1 Rho GTPase activating protein 0.225559
TTL tubulin tyrosine ligase 0.225435
IGF1R insulin-like growth factor 1 receptor 0.225161
CLIC5 chloride intracellular channel 5 0.225011
FMN1 formin 1 0.224951
INADL InaD-like (Drosophila) 0.224951
GRIK2 glutamate receptor, ionotropic, kainate 2 0.224479
FAM71B family with sequence similarity 71, member B 0.224479
ATP2B4 ATPase, Ca++ transporting, plasma membrane 4 0.224421
TTC17 tetratricopeptide repeat domain 17 0.224392
ZIC5 Zic family member 5 0.224363
ETV1 ets variant 1 0.224219
SGCZ sarcoglycan, zeta 0.224219
LRRC8A leucine rich repeat containing 8 family, member A 0.224076
TCF12 transcription factor 12 0.223268
PRPF18 pre-mRNA processing factor 18 0.222574
LOC401324 uncharacterized LOC401324 0.222521
PTTG1 pituitary tumor-transforming 1 0.222469
NCOR2 nuclear receptor corepressor 2 0.22234
BBOX1 butyrobetaine (gamma), 2-oxoglutarate dioxygenase (gamma-butyrobetaine hydroxylase) 1 0.222032
NBAS neuroblastoma amplified sequence 0.22193
KLK14 kallikrein-related peptidase 14 0.22153
C9 complement component 9 0.221285
SUSD1 sushi domain containing 1 0.221163
CPN1 carboxypeptidase N, polypeptide 1 0.221163
PZP pregnancy-zone protein 0.221139
METTL13 methyltransferase like 13 0.221139
TGM5 transglutaminase 5 0.221042
RNF157 ring finger protein 157 0.220922
NBEA neurobeachin 0.220685
CORO2A coronin, actin binding protein, 2A 0.220614
RAPGEF5 Rap guanine nucleotide exchange factor (GEF) 5 0.220427
PARVA parvin, alpha 0.219945
SOX13 SRY (sex determining region Y)-box 13 0.219742
CPNE4 copine IV 0.219476
TMOD2 tropomodulin 2 (neuronal) 0.219018
SMCHD1 structural maintenance of chromosomes flexible hinge domain containing 1 0.218911
CCDC172 coiled-coil domain containing 172 0.218783
VIMP VCP-interacting membrane selenoprotein 0.218783
BCAS1 breast carcinoma amplified sequence 1 0.218489
CADPS Ca++-dependent secretion activator 0.21826
KIAA0319 KIAA0319 0.218117
DDX27 DEAD (Asp-Glu-Ala-Asp) box polypeptide 27 0.217652
LTBP1 latent transforming growth factor beta binding protein 1 0.217161
LRRTM4 leucine rich repeat transmembrane neuronal 4 0.217161
PRLR prolactin receptor 0.217064
TSHZ2 teashirt zinc finger homeobox 2 0.216892
DTNB dystrobrevin, beta 0.21674
ZNF12 zinc finger protein 12 0.216477