mineral metabolism disease Gene Set

Dataset GWASdb SNP-Disease Associations
Category disease or phenotype associations
Type disease
Description An acquired metabolic disease that is characterized by abnormal mineral metabolism. (Human Disease Ontology, DOID_0050032)
External Link http://jjwanglab.org/gwasdb/gwasdb2/gwasdb2/go_trait/DOID:0050032
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Genes

304 genes associated with the disease mineral metabolism disease in GWAS and other genetic association datasets from the GWASdb SNP-Disease Associations dataset.

Symbol Name Standardized Value
CASR calcium-sensing receptor 2.2483
TF transferrin 1.8574
PCSK7 proprotein convertase subtilisin/kexin type 7 1.50906
SIK3 SIK family kinase 3 1.49022
CSTA cystatin A (stefin A) 1.48839
PAFAH1B2 platelet-activating factor acetylhydrolase 1b, catalytic subunit 2 (30kDa) 1.45512
SIDT2 SID1 transmembrane family, member 2 1.40676
SELENBP1 selenium binding protein 1 1.2678
PPCDC phosphopantothenoylcysteine decarboxylase 1.17795
ZPR1 ZPR1 zinc finger 1.12467
RAB6B RAB6B, member RAS oncogene family 1.11618
TAGLN transgelin 1.06505
TMPRSS6 transmembrane protease, serine 6 0.931906
HFE hemochromatosis 0.917276
SRPRB signal recognition particle receptor, B subunit 0.898523
APOA5 apolipoprotein A-V 0.828471
BUD13 BUD13 homolog (S. cerevisiae) 0.744737
RGS14 regulator of G-protein signaling 14 0.720828
APOA4 apolipoprotein A-IV 0.697642
CCDC58 coiled-coil domain containing 58 0.651371
CA1 carbonic anhydrase I 0.621333
CYP24A1 cytochrome P450, family 24, subfamily A, polypeptide 1 0.612354
IP6K3 inositol hexakisphosphate kinase 3 0.609897
CP ceruloplasmin (ferroxidase) 0.593633
FAM162A family with sequence similarity 162, member A 0.578591
DGKD diacylglycerol kinase, delta 130kDa 0.558881
GCKR glucokinase (hexokinase 4) regulator 0.553014
CARS cysteinyl-tRNA synthetase 0.553014
SERPINF2 serpin peptidase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 2 0.538635
CD109 CD109 molecule 0.525915
SLC17A1 solute carrier family 17 (organic anion transporter), member 1 0.498333
PARP9 poly (ADP-ribose) polymerase family, member 9 0.496866
KPNA1 karyopherin alpha 1 (importin alpha 5) 0.49221
CSMD1 CUB and Sushi multiple domains 1 0.484529
NELL1 NEL-like 1 (chicken) 0.483954
C12ORF4 chromosome 12 open reading frame 4 0.482571
CDV3 CDV3 homolog (mouse) 0.479082
FAM13A family with sequence similarity 13, member A 0.47619
KCNQ5 potassium channel, voltage gated KQT-like subfamily Q, member 5 0.472512
WDR5B WD repeat domain 5B 0.471437
SGCZ sarcoglycan, zeta 0.470131
TFR2 transferrin receptor 2 0.464584
FNTB farnesyltransferase, CAAX box, beta 0.461977
LRRC16A leucine rich repeat containing 16A 0.452375
EPHA6 EPH receptor A6 0.452375
LINC00536 long intergenic non-protein coding RNA 536 0.451162
ENPP3 ectonucleotide pyrophosphatase/phosphodiesterase 3 0.450528
TYR tyrosinase 0.446919
WDR81 WD repeat domain 81 0.442803
ARID1B AT rich interactive domain 1B (SWI1-like) 0.439762
ABCG5 ATP-binding cassette, sub-family G (WHITE), member 5 0.43886
ANK2 ankyrin 2, neuronal 0.438494
ADRA1A adrenoceptor alpha 1A 0.436307
MDN1 MDN1, midasin homolog (yeast) 0.434468
TRAK1 trafficking protein, kinesin binding 1 0.433661
TTC7B tetratricopeptide repeat domain 7B 0.433583
KLHL13 kelch-like family member 13 0.430311
TCERG1L transcription elongation regulator 1-like 0.430311
LUZP2 leucine zipper protein 2 0.430311
TMEM132C transmembrane protein 132C 0.429745
KLF12 Kruppel-like factor 12 0.429745
AGBL1 ATP/GTP binding protein-like 1 0.429206
KIRREL kin of IRRE like (Drosophila) 0.428692
SERPINA9 serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 9 0.428201
PLXDC2 plexin domain containing 2 0.427278
MIR22HG MIR22 host gene 0.426843
PARD3B par-3 family cell polarity regulator beta 0.426003
PLEKHH2 pleckstrin homology domain containing, family H (with MyTH4 domain) member 2 0.425181
PRPSAP2 phosphoribosyl pyrophosphate synthetase-associated protein 2 0.424045
C11ORF40 chromosome 11 open reading frame 40 0.423344
MAD1L1 MAD1 mitotic arrest deficient-like 1 (yeast) 0.422617
PYGB phosphorylase, glycogen; brain 0.419335
LRRC17 leucine rich repeat containing 17 0.419335
RUNX1 runt-related transcription factor 1 0.418401
RFC3 replication factor C (activator 1) 3, 38kDa 0.418179
TENM4 teneurin transmembrane protein 4 0.41796
TUBA3C tubulin, alpha 3c 0.41679
LMBRD1 LMBR1 domain containing 1 0.416611
GPHN gephyrin 0.41419
DLG2 discs, large homolog 2 (Drosophila) 0.413472
ARSB arylsulfatase B 0.413127
GHR growth hormone receptor 0.413127
OPCML opioid binding protein/cell adhesion molecule-like 0.411971
TAF15 TAF15 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 68kDa 0.411081
SYT6 synaptotagmin VI 0.410276
KIAA1217 KIAA1217 0.410153
SLCO3A1 solute carrier organic anion transporter family, member 3A1 0.410099
SOX5 SRY (sex determining region Y)-box 5 0.40845
UNC5C unc-5 homolog C (C. elegans) 0.407209
SHC4 SHC (Src homology 2 domain containing) family, member 4 0.406958
AKAP6 A kinase (PRKA) anchor protein 6 0.406348
ITPR2 inositol 1,4,5-trisphosphate receptor, type 2 0.406348
ST6GALNAC6 ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 6 0.406229
ACBD3 acyl-CoA binding domain containing 3 0.405994
STOM stomatin 0.405421
TRIM6 tripartite motif containing 6 0.405198
SERPINA5 serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 5 0.405198
PLXNA4 plexin A4 0.404978
ATXN1 ataxin 1 0.404129
RBFOX1 RNA binding protein, fox-1 homolog (C. elegans) 1 0.403132
DOCK1 dedicator of cytokinesis 1 0.402198
COL27A1 collagen, type XXVII, alpha 1 0.402198
PHIP pleckstrin homology domain interacting protein 0.402198
LRRC3B leucine rich repeat containing 3B 0.402198
TTC27 tetratricopeptide repeat domain 27 0.402018
NCKAP5 NCK-associated protein 5 0.401319
GRM7 glutamate receptor, metabotropic 7 0.401065
RALA v-ral simian leukemia viral oncogene homolog A (ras related) 0.401065
ANKS1B ankyrin repeat and sterile alpha motif domain containing 1B 0.400489
SLC44A3 solute carrier family 44, member 3 0.40009
USP13 ubiquitin specific peptidase 13 (isopeptidase T-3) 0.399779
OFCC1 orofacial cleft 1 candidate 1 0.399103
CACHD1 cache domain containing 1 0.398956
RASSF6 Ras association (RalGDS/AF-6) domain family member 6 0.398884
SPOCK3 sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 3 0.398246
ZBTB20 zinc finger and BTB domain containing 20 0.397048
RPH3AL rabphilin 3A-like (without C2 domains) 0.396908
SATB2 SATB homeobox 2 0.39618
RIMS2 regulating synaptic membrane exocytosis 2 0.395481
MYEOV2 myeloma overexpressed 2 0.395481
ZNF202 zinc finger protein 202 0.395481
TMEM225 transmembrane protein 225 0.392942
IRF6 interferon regulatory factor 6 0.392477
MADCAM1 mucosal vascular addressin cell adhesion molecule 1 0.38878
RNF152 ring finger protein 152 0.388643
FAM187B family with sequence similarity 187, member B 0.388236
ITGA11 integrin, alpha 11 0.388014
SLC13A5 solute carrier family 13 (sodium-dependent citrate transporter), member 5 0.38797
TMEM14A transmembrane protein 14A 0.387622
BCKDHB branched chain keto acid dehydrogenase E1, beta polypeptide 0.387536
KYNU kynureninase 0.387451
ZNF415 zinc finger protein 415 0.387408
CPEB3 cytoplasmic polyadenylation element binding protein 3 0.386219
ERC2 ELKS/RAB6-interacting/CAST family member 2 0.385446
EGFLAM EGF-like, fibronectin type III and laminin G domains 0.385295
TUBGCP3 tubulin, gamma complex associated protein 3 0.384998
RYR2 ryanodine receptor 2 (cardiac) 0.384706
DIEXF digestive organ expansion factor homolog (zebrafish) 0.38467
LINC00371 long intergenic non-protein coding RNA 371 0.384332
DLGAP1 discs, large (Drosophila) homolog-associated protein 1 0.384019
ZNF676 zinc finger protein 676 0.383673
OR6T1 olfactory receptor, family 6, subfamily T, member 1 0.383185
PTPRM protein tyrosine phosphatase, receptor type, M 0.382855
DPYSL2 dihydropyrimidinase-like 2 0.382818
C10ORF11 chromosome 10 open reading frame 11 0.38253
LINC00189 long intergenic non-protein coding RNA 189 0.381966
CAPN13 calpain 13 0.381863
ADAM12 ADAM metallopeptidase domain 12 0.381186
CHST9 carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 9 0.381086
PTPRG protein tyrosine phosphatase, receptor type, G 0.380922
DSCAM Down syndrome cell adhesion molecule 0.380889
TGFBI transforming growth factor, beta-induced, 68kDa 0.380661
CASC15 cancer susceptibility candidate 15 (non-protein coding) 0.3805
CNTN5 contactin 5 0.380373
STAB2 stabilin 2 0.380152
DAPK1 death-associated protein kinase 1 0.379933
KDSR 3-ketodihydrosphingosine reductase 0.378644
FLT1 fms-related tyrosine kinase 1 0.3785
GLI3 GLI family zinc finger 3 0.377495
NCK2 NCK adaptor protein 2 0.377172
TMCC3 transmembrane and coiled-coil domain family 3 0.376672
EPHX1 epoxide hydrolase 1, microsomal (xenobiotic) 0.376185
PAK7 p21 protein (Cdc42/Rac)-activated kinase 7 0.37576
LPL lipoprotein lipase 0.374939
ARHGAP10 Rho GTPase activating protein 10 0.374381
COL23A1 collagen, type XXIII, alpha 1 0.374222
COG5 component of oligomeric golgi complex 5 0.374131
DIRC3 disrupted in renal carcinoma 3 0.374041
MED27 mediator complex subunit 27 0.373818
PTPRB protein tyrosine phosphatase, receptor type, B 0.373818
CTIF CBP80/20-dependent translation initiation factor 0.373358
PDE10A phosphodiesterase 10A 0.373079
GFRA2 GDNF family receptor alpha 2 0.372846
KCNJ11 potassium channel, inwardly rectifying subfamily J, member 11 0.372247
SPTBN1 spectrin, beta, non-erythrocytic 1 0.372085
MAST2 microtubule associated serine/threonine kinase 2 0.372045
ABTB2 ankyrin repeat and BTB (POZ) domain containing 2 0.371904
PTPN9 protein tyrosine phosphatase, non-receptor type 9 0.371845
P3H2 prolyl 3-hydroxylase 2 0.371374
GBP6 guanylate binding protein family, member 6 0.371335
ARHGEF3 Rho guanine nucleotide exchange factor (GEF) 3 0.371296
ZNF592 zinc finger protein 592 0.369791
UHRF1 ubiquitin-like with PHD and ring finger domains 1 0.367667
FAM19A2 family with sequence similarity 19 (chemokine (C-C motif)-like), member A2 0.365759
CHCHD6 coiled-coil-helix-coiled-coil-helix domain containing 6 0.36322
CTTNBP2 cortactin binding protein 2 0.362319
LOC100505776 0.361702
IST1 increased sodium tolerance 1 homolog (yeast) 0.361341
LIPC lipase, hepatic 0.359527
EPB41L3 erythrocyte membrane protein band 4.1-like 3 0.359206
GRM1 glutamate receptor, metabotropic 1 0.356162
MLLT3 myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 0.355961
TSHZ3 teashirt zinc finger homeobox 3 0.35508
NCS1 neuronal calcium sensor 1 0.354606
F13A1 coagulation factor XIII, A1 polypeptide 0.353962
MOB3B MOB kinase activator 3B 0.353781
MYO10 myosin X 0.353513
SIRPB2 signal-regulatory protein beta 2 0.353249
CDK5RAP1 CDK5 regulatory subunit associated protein 1 0.352816
SLC4A7 solute carrier family 4, sodium bicarbonate cotransporter, member 7 0.352477
KCNMA1 potassium channel, calcium activated large conductance subfamily M alpha, member 1 0.352225
LRTM2 leucine-rich repeats and transmembrane domains 2 0.351814
CHSY3 chondroitin sulfate synthase 3 0.350627
ATXN7L1 ataxin 7-like 1 0.350398
ALMS1 Alstrom syndrome protein 1 0.350171
WRN Werner syndrome, RecQ helicase-like 0.349507
PLXNC1 plexin C1 0.348653
SLC8A3 solute carrier family 8 (sodium/calcium exchanger), member 3 0.348653
ESD esterase D 0.348584
LOC100506474 uncharacterized LOC100506474 0.348308
SHISA6 shisa family member 6 0.347178
CCDC162P coiled-coil domain containing 162, pseudogene 0.347049
TREM1 triggering receptor expressed on myeloid cells 1 0.346985
KCTD17 potassium channel tetramerization domain containing 17 0.346794
LPAR5 lysophosphatidic acid receptor 5 0.346667
FABP3 fatty acid binding protein 3, muscle and heart 0.346355
THSD7A thrombospondin, type I, domain containing 7A 0.346355
EDAR ectodysplasin A receptor 0.346108
SLC8A1 solute carrier family 8 (sodium/calcium exchanger), member 1 0.345327
MMRN1 multimerin 1 0.345093
NFASC neurofascin 0.344919
ALPK3 alpha-kinase 3 0.344406
COLQ collagen-like tail subunit (single strand of homotrimer) of asymmetric acetylcholinesterase 0.343743
PAK6 p21 protein (Cdc42/Rac)-activated kinase 6 0.342479
ELMOD2 ELMO/CED-12 domain containing 2 0.342428
DLGAP3 discs, large (Drosophila) homolog-associated protein 3 0.342098
NUMB numb homolog (Drosophila) 0.341804
SH3GL2 SH3-domain GRB2-like 2 0.341688
PTPRD protein tyrosine phosphatase, receptor type, D 0.341457
MRPL3 mitochondrial ribosomal protein L3 0.341457
SOGA1 suppressor of glucose, autophagy associated 1 0.341286
PARK2 parkin RBR E3 ubiquitin protein ligase 0.341286
SIM2 single-minded family bHLH transcription factor 2 0.341229
ADGB androglobin 0.340556
FARP1 FERM, RhoGEF (ARHGEF) and pleckstrin domain protein 1 (chondrocyte-derived) 0.340282
GCM1 glial cells missing homolog 1 (Drosophila) 0.340064
TSPEAR thrombospondin-type laminin G domain and EAR repeats 0.33953
ALOX5AP arachidonate 5-lipoxygenase-activating protein 0.33932
NALCN sodium leak channel, non selective 0.339008
CNTNAP5 contactin associated protein-like 5 0.338447
CHSY1 chondroitin sulfate synthase 1 0.337899
MEGF11 multiple EGF-like-domains 11 0.337899
CFAP54 cilia and flagella associated 54 0.33785
KLHL14 kelch-like family member 14 0.33785
OLFM1 olfactomedin 1 0.337461
EIF6 eukaryotic translation initiation factor 6 0.336424
SUGP1 SURP and G patch domain containing 1 0.335787
CACNA2D3 calcium channel, voltage-dependent, alpha 2/delta subunit 3 0.335743
AGPAT4 1-acylglycerol-3-phosphate O-acyltransferase 4 0.3353
TBX5 T-box 5 0.335256
ENPP4 ectonucleotide pyrophosphatase/phosphodiesterase 4 (putative) 0.335125
KDM4B lysine (K)-specific demethylase 4B 0.334062
PALLD palladin, cytoskeletal associated protein 0.334062
LYSMD2 LysM, putative peptidoglycan-binding, domain containing 2 0.33402
C1ORF100 chromosome 1 open reading frame 100 0.332809
DLC1 DLC1 Rho GTPase activating protein 0.332497
TTL tubulin tyrosine ligase 0.332342
IGF1R insulin-like growth factor 1 receptor 0.331999
CLIC5 chloride intracellular channel 5 0.33181
INADL InaD-like (Drosophila) 0.331735
FMN1 formin 1 0.331735
FAM71B family with sequence similarity 71, member B 0.331143
GRIK2 glutamate receptor, ionotropic, kainate 2 0.331143
ATP2B4 ATPase, Ca++ transporting, plasma membrane 4 0.33107
TTC17 tetratricopeptide repeat domain 17 0.331034
ZIC5 Zic family member 5 0.330997
ETV1 ets variant 1 0.330817
LRRC8A leucine rich repeat containing 8 family, member A 0.330638
TCF12 transcription factor 12 0.329626
PRPF18 pre-mRNA processing factor 18 0.328756
LOC401324 uncharacterized LOC401324 0.32869
PTTG1 pituitary tumor-transforming 1 0.328625
NCOR2 nuclear receptor corepressor 2 0.328462
BBOX1 butyrobetaine (gamma), 2-oxoglutarate dioxygenase (gamma-butyrobetaine hydroxylase) 1 0.328077
NBAS neuroblastoma amplified sequence 0.32795
KLK14 kallikrein-related peptidase 14 0.327449
C9 complement component 9 0.327142
CPN1 carboxypeptidase N, polypeptide 1 0.32699
SUSD1 sushi domain containing 1 0.32699
PZP pregnancy-zone protein 0.326959
METTL13 methyltransferase like 13 0.326959
TGM5 transglutaminase 5 0.326839
RNF157 ring finger protein 157 0.326689
NBEA neurobeachin 0.326391
CORO2A coronin, actin binding protein, 2A 0.326303
RAPGEF5 Rap guanine nucleotide exchange factor (GEF) 5 0.326069
PARVA parvin, alpha 0.325466
SOX13 SRY (sex determining region Y)-box 13 0.325193
CPNE4 copine IV 0.324803
TMOD2 tropomodulin 2 (neuronal) 0.324135
SMCHD1 structural maintenance of chromosomes flexible hinge domain containing 1 0.323978
CCDC172 coiled-coil domain containing 172 0.323792
VIMP VCP-interacting membrane selenoprotein 0.323792
BCAS1 breast carcinoma amplified sequence 1 0.323361
CAMK1D calcium/calmodulin-dependent protein kinase ID 0.323149
CADPS Ca++-dependent secretion activator 0.323028
KIAA0319 KIAA0319 0.322818
DDX27 DEAD (Asp-Glu-Ala-Asp) box polypeptide 27 0.322141
LTBP1 latent transforming growth factor beta binding protein 1 0.321425
LRRTM4 leucine rich repeat transmembrane neuronal 4 0.321425
PRLR prolactin receptor 0.321284
TSHZ2 teashirt zinc finger homeobox 2 0.321032
DTNB dystrobrevin, beta 0.32081
ZNF12 zinc finger protein 12 0.320427