abnormality of the biliary system Gene Set

Dataset GWASdb SNP-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description An abnormality of the biliary system. (Human Phenotype Ontology, HP_0004297)
External Link http://jjwanglab.org/gwasdb/gwasdb2/gwasdb2/go_trait/HP:0004297
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Genes

358 genes associated with the abnormality of the biliary system phenotype in GWAS datasets from the GWASdb SNP-Phenotype Associations dataset.

Symbol Name Standardized Value
ACKR1 atypical chemokine receptor 1 (Duffy blood group) 3.01244
GGT1 gamma-glutamyltransferase 1 2.63404
LUC7L LUC7-like (S. cerevisiae) 2.31025
SLC22A12 solute carrier family 22 (organic anion/urate transporter), member 12 2.24728
NRXN2 neurexin 2 2.2397
CCND3 cyclin D3 2.20594
TMPRSS6 transmembrane protease, serine 6 2.10221
SLC2A9 solute carrier family 2 (facilitated glucose transporter), member 9 2.07915
ABO ABO blood group (transferase A, alpha 1-3-N-acetylgalactosaminyltransferase; transferase B, alpha 1-3-galactosyltransferase) 2.01405
G6PD glucose-6-phosphate dehydrogenase 2.00923
SH2B3 SH2B adaptor protein 3 1.91141
HFE hemochromatosis 1.75707
LIPC lipase, hepatic 1.68604
RCL1 RNA terminal phosphate cyclase-like 1 1.66651
PSMD3 proteasome (prosome, macropain) 26S subunit, non-ATPase, 3 1.66327
ABCG2 ATP-binding cassette, sub-family G (WHITE), member 2 (Junior blood group) 1.63258
ALPL alkaline phosphatase, liver/bone/kidney 1.58488
PNPLA3 patatin-like phospholipase domain containing 3 1.54757
GP1BA glycoprotein Ib (platelet), alpha polypeptide 1.54733
MARCH8 membrane-associated ring finger (C3HC4) 8, E3 ubiquitin protein ligase 1.53426
GCKR glucokinase (hexokinase 4) regulator 1.50656
GPLD1 glycosylphosphatidylinositol specific phospholipase D1 1.48419
THPO thrombopoietin 1.45654
PRKAG2 protein kinase, AMP-activated, gamma 2 non-catalytic subunit 1.42629
SLC14A2 solute carrier family 14 (urea transporter), member 2 1.41863
TNFRSF13B tumor necrosis factor receptor superfamily, member 13B 1.40061
THRB thyroid hormone receptor, beta 1.39376
TIMM23 translocase of inner mitochondrial membrane 23 homolog (yeast) 1.37339
ALDH2 aldehyde dehydrogenase 2 family (mitochondrial) 1.36671
DOCK7 dedicator of cytokinesis 7 1.32884
HBA1 hemoglobin, alpha 1 1.31069
DENND4A DENN/MADD domain containing 4A 1.30983
TMEM79 transmembrane protein 79 1.30781
BRAP BRCA1 associated protein 1.28282
SAMM50 SAMM50 sorting and assembly machinery component 1.26441
UBE2L3 ubiquitin-conjugating enzyme E2L 3 1.24751
WDR72 WD repeat domain 72 1.22485
CDK6 cyclin-dependent kinase 6 1.21853
TERT telomerase reverse transcriptase 1.19958
RPS11 ribosomal protein S11 1.19958
XPO7 exportin 7 1.19958
LRP2 low density lipoprotein receptor-related protein 2 1.1898
PRKCE protein kinase C, epsilon 1.18904
TYMP thymidine phosphorylase 1.18704
CCDC162P coiled-coil domain containing 162, pseudogene 1.17972
TFR2 transferrin receptor 2 1.13677
CETP cholesteryl ester transfer protein, plasma 1.13544
BAZ1B bromodomain adjacent to zinc finger domain, 1B 1.11203
MMP26 matrix metallopeptidase 26 1.08891
ITGA4 integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor) 1.08659
GALP galanin-like peptide 1.05616
NCAPH2 non-SMC condensin II complex, subunit H2 1.04365
MMP25 matrix metallopeptidase 25 1.02729
EPO erythropoietin 1.02729
ITFG3 integrin alpha FG-GAP repeat containing 3 0.854024
HBB hemoglobin, beta 0.78092
ABCA1 ATP-binding cassette, sub-family A (ABC1), member 1 0.760343
APOC1 apolipoprotein C-I 0.690896
TPM4 tropomyosin 4 0.576102
ZAN zonadhesin (gene/pseudogene) 0.564644
HLA-DPB1 major histocompatibility complex, class II, DP beta 1 0.520965
MYB v-myb avian myeloblastosis viral oncogene homolog 0.470822
SLC17A3 solute carrier family 17 (organic anion transporter), member 3 0.466034
TFRC transferrin receptor 0.449892
SPTA1 spectrin, alpha, erythrocytic 1 0.443596
UGT1A10 UDP glucuronosyltransferase 1 family, polypeptide A10 0.427958
NAB1 NGFI-A binding protein 1 (EGR1 binding protein 1) 0.395007
IL12RB2 interleukin 12 receptor, beta 2 0.391046
DPP4 dipeptidyl-peptidase 4 0.385748
LINC01549 long intergenic non-protein coding RNA 1549 0.378039
TNPO3 transportin 3 0.376877
MST1 macrophage stimulating 1 0.376528
OR51F1 olfactory receptor, family 51, subfamily F, member 1 (gene/pseudogene) 0.374272
NTM neurotrimin 0.371602
ANKRD44 ankyrin repeat domain 44 0.367317
ABCG8 ATP-binding cassette, sub-family G (WHITE), member 8 0.361532
HS6ST3 heparan sulfate 6-O-sulfotransferase 3 0.360852
TNFSF15 tumor necrosis factor (ligand) superfamily, member 15 0.357786
OR51B5 olfactory receptor, family 51, subfamily B, member 5 0.355223
SPIB Spi-B transcription factor (Spi-1/PU.1 related) 0.350774
RPL3 ribosomal protein L3 0.343993
CLEC16A C-type lectin domain family 16, member A 0.339741
EXOC3L4 exocyst complex component 3-like 4 0.338792
PLXNA4 plexin A4 0.332474
RAD51B RAD51 paralog B 0.331226
TNFSF8 tumor necrosis factor (ligand) superfamily, member 8 0.329525
TIMMDC1 translocase of inner mitochondrial membrane domain containing 1 0.329298
GRID1 glutamate receptor, ionotropic, delta 1 0.326663
C6ORF10 chromosome 6 open reading frame 10 0.32319
KIRREL3 kin of IRRE like 3 (Drosophila) 0.323165
DACH1 dachshund family transcription factor 1 0.32047
ATP2B4 ATPase, Ca++ transporting, plasma membrane 4 0.319337
RPS6KA4 ribosomal protein S6 kinase, 90kDa, polypeptide 4 0.319337
ARHGAP31 Rho GTPase activating protein 31 0.31912
MYPN myopalladin 0.318911
CNTN4 contactin 4 0.318469
TMEM39A transmembrane protein 39A 0.318398
IL7R interleukin 7 receptor 0.316813
CA10 carbonic anhydrase X 0.315382
SLC39A11 solute carrier family 39, member 11 0.315294
WDR70 WD repeat domain 70 0.31439
LOC100506272 uncharacterized LOC100506272 0.313342
PCBP3 poly(rC) binding protein 3 0.312523
PTPRT protein tyrosine phosphatase, receptor type, T 0.307639
TANC1 tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1 0.307605
GPR35 G protein-coupled receptor 35 0.304591
IKZF3 IKAROS family zinc finger 3 (Aiolos) 0.304591
TNFRSF1A tumor necrosis factor receptor superfamily, member 1A 0.304591
DENND1B DENN/MADD domain containing 1B 0.304359
L3MBTL4 l(3)mbt-like 4 (Drosophila) 0.296996
MYO10 myosin X 0.295385
RYR2 ryanodine receptor 2 (cardiac) 0.292354
GNA14 guanine nucleotide binding protein (G protein), alpha 14 0.291575
PRDM16 PR domain containing 16 0.290894
AK8 adenylate kinase 8 0.289201
PLCL2 phospholipase C-like 2 0.286065
MED1 mediator complex subunit 1 0.284725
ERC1 ELKS/RAB6-interacting/CAST family member 1 0.284725
TCF4 transcription factor 4 0.282188
PRICKLE1 prickle homolog 1 (Drosophila) 0.280196
COL17A1 collagen, type XVII, alpha 1 0.279529
ELMO1 engulfment and cell motility 1 0.279457
FRMD4A FERM domain containing 4A 0.279387
DCC DCC netrin 1 receptor 0.278973
TP63 tumor protein p63 0.278471
TNC tenascin C 0.274902
STX12 syntaxin 12 0.274788
CDK12 cyclin-dependent kinase 12 0.26999
SDK1 sidekick cell adhesion molecule 1 0.269824
BAZ2B bromodomain adjacent to zinc finger domain, 2B 0.268768
GUSBP11 glucuronidase, beta pseudogene 11 0.263961
PLCB1 phospholipase C, beta 1 (phosphoinositide-specific) 0.262868
FBXL20 F-box and leucine-rich repeat protein 20 0.261966
SLC17A8 solute carrier family 17 (vesicular glutamate transporter), member 8 0.260943
PAX3 paired box 3 0.257764
HMCN1 hemicentin 1 0.257347
GRIK1 glutamate receptor, ionotropic, kainate 1 0.256946
CNTN5 contactin 5 0.256791
HPCAL1 hippocalcin-like 1 0.255512
GLI3 GLI family zinc finger 3 0.255489
MANBA mannosidase, beta A, lysosomal 0.254624
CDH13 cadherin 13 0.254439
LOC729296 uncharacterized LOC729296 0.253162
SH2D4B SH2 domain containing 4B 0.251842
LY86-AS1 LY86 antisense RNA 1 0.250974
POMGNT2 protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-) 0.250203
GAS7 growth arrest-specific 7 0.249023
IL2RA interleukin 2 receptor, alpha 0.249023
SGCZ sarcoglycan, zeta 0.247446
STAT4 signal transducer and activator of transcription 4 0.247235
ZNF804A zinc finger protein 804A 0.247235
HDAC7 histone deacetylase 7 0.247235
CCDC88B coiled-coil domain containing 88B 0.24609
ADAMTS13 ADAM metallopeptidase with thrombospondin type 1 motif, 13 0.245237
APP amyloid beta (A4) precursor protein 0.243401
PTPRU protein tyrosine phosphatase, receptor type, U 0.242104
LBH limb bud and heart development 0.240708
TMEM117 transmembrane protein 117 0.240243
MAGI2 membrane associated guanylate kinase, WW and PDZ domain containing 2 0.239163
LRRC69 leucine rich repeat containing 69 0.237726
VPS26B vacuolar protein sorting 26 homolog B (S. pombe) 0.237726
MAMDC2 MAM domain containing 2 0.237033
ITPK1 inositol-tetrakisphosphate 1-kinase 0.236703
BSPRY B-box and SPRY domain containing 0.236462
HECTD4 HECT domain containing E3 ubiquitin protein ligase 4 0.234679
HNRNPK heterogeneous nuclear ribonucleoprotein K 0.23448
ZC3H12D zinc finger CCCH-type containing 12D 0.229995
LMF1 lipase maturation factor 1 0.229296
C5ORF30 chromosome 5 open reading frame 30 0.22809
MAPT microtubule-associated protein tau 0.227908
DDC dopa decarboxylase (aromatic L-amino acid decarboxylase) 0.227828
NOTCH4 notch 4 0.227631
NR1I2 nuclear receptor subfamily 1, group I, member 2 0.226339
CUBN cubilin (intrinsic factor-cobalamin receptor) 0.22608
KIAA0825 KIAA0825 0.225995
COLEC12 collectin sub-family member 12 0.225927
OR51E2 olfactory receptor, family 51, subfamily E, member 2 0.225826
ARNT2 aryl-hydrocarbon receptor nuclear translocator 2 0.225035
DDX21 DEAD (Asp-Glu-Ala-Asp) box helicase 21 0.223354
TNFSF13B tumor necrosis factor (ligand) superfamily, member 13b 0.223022
ADAMTS17 ADAM metallopeptidase with thrombospondin type 1 motif, 17 0.222623
PDIA5 protein disulfide isomerase family A, member 5 0.222573
MAST2 microtubule associated serine/threonine kinase 2 0.22251
DIS3L2 DIS3 like 3'-5' exoribonuclease 2 0.221782
SLC24A3 solute carrier family 24 (sodium/potassium/calcium exchanger), member 3 0.221782
PLEKHG1 pleckstrin homology domain containing, family G (with RhoGef domain) member 1 0.220878
MTHFD1L methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1-like 0.220663
SEMA6A sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6A 0.220557
KANK1 KN motif and ankyrin repeat domains 1 0.219355
VWC2L von Willebrand factor C domain containing protein 2-like 0.219261
CNNM1 cyclin and CBS domain divalent metal cation transport mediator 1 0.218709
PLEKHA6 pleckstrin homology domain containing, family A member 6 0.217845
PARK2 parkin RBR E3 ubiquitin protein ligase 0.217845
TFCP2L1 transcription factor CP2-like 1 0.217517
CELF2 CUGBP, Elav-like family member 2 0.216964
RHBDL3 rhomboid, veinlet-like 3 (Drosophila) 0.216512
FAM53B family with sequence similarity 53, member B 0.216292
TENM4 teneurin transmembrane protein 4 0.216292
NTRK2 neurotrophic tyrosine kinase, receptor, type 2 0.215056
UST uronyl-2-sulfotransferase 0.214181
STAM signal transducing adaptor molecule (SH3 domain and ITAM motif) 1 0.213147
ST6GAL2 ST6 beta-galactosamide alpha-2,6-sialyltranferase 2 0.211902
NLRP5 NLR family, pyrin domain containing 5 0.211707
CIAPIN1 cytokine induced apoptosis inhibitor 1 0.211143
PSD3 pleckstrin and Sec7 domain containing 3 0.210871
ATP10B ATPase, class V, type 10B 0.210826
GLIS3 GLIS family zinc finger 3 0.210432
MAML2 mastermind-like 2 (Drosophila) 0.209845
STON2 stonin 2 0.209845
PSORS1C1 psoriasis susceptibility 1 candidate 1 0.209018
WWOX WW domain containing oxidoreductase 0.208682
TAB2 TGF-beta activated kinase 1/MAP3K7 binding protein 2 0.208464
ADD3 adducin 3 (gamma) 0.208249
MEIS1 Meis homeobox 1 0.206951
MTMR10 myotubularin related protein 10 0.206951
HNMT histamine N-methyltransferase 0.206209
POLR2C polymerase (RNA) II (DNA directed) polypeptide C, 33kDa 0.205168
TSHZ2 teashirt zinc finger homeobox 2 0.204517
STK35 serine/threonine kinase 35 0.204517
STAC SH3 and cysteine rich domain 0.204517
CPA6 carboxypeptidase A6 0.204265
BIN2 bridging integrator 2 0.203745
TDRD5 tudor domain containing 5 0.203596
HNRNPUL1 heterogeneous nuclear ribonucleoprotein U-like 1 0.202461
FHAD1 forkhead-associated (FHA) phosphopeptide binding domain 1 0.20185
ACAD9 acyl-CoA dehydrogenase family, member 9 0.201415
OR13D1 olfactory receptor, family 13, subfamily D, member 1 0.200216
FAM155A family with sequence similarity 155, member A 0.199699
C20ORF194 chromosome 20 open reading frame 194 0.199415
SCML4 sex comb on midleg-like 4 (Drosophila) 0.198991
PRKCA protein kinase C, alpha 0.198887
CHST11 carbohydrate (chondroitin 4) sulfotransferase 11 0.198701
GABRG3 gamma-aminobutyric acid (GABA) A receptor, gamma 3 0.198499
ITPR1 inositol 1,4,5-trisphosphate receptor, type 1 0.198122
LRRTM4 leucine rich repeat transmembrane neuronal 4 0.19753
LOC648987 uncharacterized LOC648987 0.197162
ACER2 alkaline ceramidase 2 0.196507
CCDC38 coiled-coil domain containing 38 0.196472
ZNF329 zinc finger protein 329 0.196455
SESTD1 SEC14 and spectrin domains 1 0.196301
LPIN2 lipin 2 0.196099
RORA RAR-related orphan receptor A 0.196065
MAPRE3 microtubule-associated protein, RP/EB family, member 3 0.196015
HIVEP3 human immunodeficiency virus type I enhancer binding protein 3 0.195949
FXR1 fragile X mental retardation, autosomal homolog 1 0.195932
HERC6 HECT and RLD domain containing E3 ubiquitin protein ligase family member 6 0.195834
OPCML opioid binding protein/cell adhesion molecule-like 0.195622
CIITA class II, major histocompatibility complex, transactivator 0.195574
LOC400927 TPTE and PTEN homologous inositol lipid phosphatase pseudogene 0.195462
LINC01587 long intergenic non-protein coding RNA 1587 0.195304
GFOD1 glucose-fructose oxidoreductase domain containing 1 0.195288
SLCO3A1 solute carrier organic anion transporter family, member 3A1 0.19507
OTOA otoancorin 0.19507
DPYSL5 dihydropyrimidinase-like 5 0.194436
DCLK1 doublecortin-like kinase 1 0.194102
CNTN6 contactin 6 0.193945
C2ORF66 chromosome 2 open reading frame 66 0.19361
PGAP1 post-GPI attachment to proteins 1 0.19361
FAM183A family with sequence similarity 183, member A 0.193404
REV3L REV3-like, polymerase (DNA directed), zeta, catalytic subunit 0.193323
PHACTR3 phosphatase and actin regulator 3 0.192742
PVT1 Pvt1 oncogene (non-protein coding) 0.19199
TTL tubulin tyrosine ligase 0.191868
TNFRSF11B tumor necrosis factor receptor superfamily, member 11b 0.191868
DEPTOR DEP domain containing MTOR-interacting protein 0.191868
AJAP1 adherens junctions associated protein 1 0.191868
GCOM1 GRINL1A complex locus 1 0.191395
GPM6A glycoprotein M6A 0.190938
UNC93B1 unc-93 homolog B1 (C. elegans) 0.190281
MTUS2 microtubule associated tumor suppressor candidate 2 0.189657
PDE1A phosphodiesterase 1A, calmodulin-dependent 0.187771
LMAN1 lectin, mannose-binding, 1 0.186924
ZPR1 ZPR1 zinc finger 0.186924
SSBP3 single stranded DNA binding protein 3 0.186761
PLCL1 phospholipase C-like 1 0.186761
RMND5B required for meiotic nuclear division 5 homolog B (S. cerevisiae) 0.186761
SEMA5A sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A 0.18652
GLDC glycine dehydrogenase (decarboxylating) 0.186129
JAZF1 JAZF zinc finger 1 0.1859
IRF2 interferon regulatory factor 2 0.185824
LY9 lymphocyte antigen 9 0.185381
TUFT1 tuftelin 1 0.185023
ASIC2 acid sensing (proton gated) ion channel 2 0.184743
THSD7A thrombospondin, type I, domain containing 7A 0.184675
DLEU7 deleted in lymphocytic leukemia, 7 0.184269
MAK16 MAK16 homolog (S. cerevisiae) 0.184071
CNTFR ciliary neurotrophic factor receptor 0.183941
C2ORF54 chromosome 2 open reading frame 54 0.183812
CTNND2 catenin (cadherin-associated protein), delta 2 0.18362
CORO2A coronin, actin binding protein, 2A 0.183495
TSC1 tuberous sclerosis 1 0.18337
KDM4C lysine (K)-specific demethylase 4C 0.18337
PEX14 peroxisomal biogenesis factor 14 0.18337
KLHL29 kelch-like family member 29 0.182765
CALCRL calcitonin receptor-like 0.182589
LRFN2 leucine rich repeat and fibronectin type III domain containing 2 0.182188
ITGA5 integrin, alpha 5 (fibronectin receptor, alpha polypeptide) 0.181583
CLMP CXADR-like membrane protein 0.181378
NDUFC2-KCTD14 NDUFC2-KCTD14 readthrough 0.180909
AGBL4 ATP/GTP binding protein-like 4 0.180909
HIBADH 3-hydroxyisobutyrate dehydrogenase 0.180909
LPP LIM domain containing preferred translocation partner in lipoma 0.180647
PKHD1L1 polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 0.180263
GPC6 glypican 6 0.179641
LYZL2 lysozyme-like 2 0.179641
CBLB Cbl proto-oncogene B, E3 ubiquitin protein ligase 0.179044
ONECUT1 one cut homeobox 1 0.178468
MPP4 membrane protein, palmitoylated 4 (MAGUK p55 subfamily member 4) 0.178412
LRRC48 leucine rich repeat containing 48 0.178299
ARHGAP12 Rho GTPase activating protein 12 0.178077
ATG10 autophagy related 10 0.177011
ULK4 unc-51 like kinase 4 0.176908
WWTR1 WW domain containing transcription regulator 1 0.175629
GLI2 GLI family zinc finger 2 0.175629
KDSR 3-ketodihydrosphingosine reductase 0.175629
EFNA5 ephrin-A5 0.175535
ASTN2 astrotactin 2 0.175395
MORC1 MORC family CW-type zinc finger 1 0.17521
TTBK1 tau tubulin kinase 1 0.174491
EPHB2 EPH receptor B2 0.174447
CEP85 centrosomal protein 85kDa 0.174058
ZNF841 zinc finger protein 841 0.173471
CES1P2 carboxylesterase 1 pseudogene 2 0.173307
SLCO1B7 solute carrier organic anion transporter family, member 1B7 (non-functional) 0.172436
GALNT18 polypeptide N-acetylgalactosaminyltransferase 18 0.172436
TMEM163 transmembrane protein 163 0.171906
HDAC9 histone deacetylase 9 0.171869
CTSF cathepsin F 0.171575
SYT9 synaptotagmin IX 0.17125
IL4R interleukin 4 receptor 0.171179
EIF4E3 eukaryotic translation initiation factor 4E family member 3 0.171002
ANKS1A ankyrin repeat and sterile alpha motif domain containing 1A 0.170758
SDCCAG8 serologically defined colon cancer antigen 8 0.170621
ACE angiotensin I converting enzyme 0.170417
LOC283177 uncharacterized LOC283177 0.170383
LMX1B LIM homeobox transcription factor 1, beta 0.170282
TSHR thyroid stimulating hormone receptor 0.170049
LIPK lipase, family member K 0.16995
ELL elongation factor RNA polymerase II 0.169625
E2F3 E2F transcription factor 3 0.169561
RNF150 ring finger protein 150 0.169561
LRRC4C leucine rich repeat containing 4C 0.169466
CRTAC1 cartilage acidic protein 1 0.168097
DLGAP2 discs, large (Drosophila) homolog-associated protein 2 0.167808
ABCC8 ATP-binding cassette, sub-family C (CFTR/MRP), member 8 0.167247
RBFOX1 RNA binding protein, fox-1 homolog (C. elegans) 1 0.166705
PPFIA2 protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2 0.165677
CSMD1 CUB and Sushi multiple domains 1 0.165677
LPPR1 lipid phosphate phosphatase-related protein type 1 0.164252
TGFBR1 transforming growth factor, beta receptor 1 0.163982
DSCAML1 Down syndrome cell adhesion molecule like 1 0.163457
FBXL13 F-box and leucine-rich repeat protein 13 0.162742
HIP1 huntingtin interacting protein 1 0.162538
FGF14 fibroblast growth factor 14 0.162337
PTPN13 protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase) 0.161748
CSMD2 CUB and Sushi multiple domains 2 0.161368
ADAM17 ADAM metallopeptidase domain 17 0.160997
LANCL2 LanC lantibiotic synthetase component C-like 2 (bacterial) 0.159936