abnormality of the ear Gene Set

Dataset GWASdb SNP-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description An abnormality of the ear. (Human Phenotype Ontology, HP_0000598)
External Link http://jjwanglab.org/gwasdb/gwasdb2/gwasdb2/go_trait/HP:0000598
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Genes

201 genes associated with the abnormality of the ear phenotype in GWAS datasets from the GWASdb SNP-Phenotype Associations dataset.

Symbol Name Standardized Value
HLA-DRA major histocompatibility complex, class II, DR alpha 1.1263
NOTCH4 notch 4 0.847016
HLA-DPA1 major histocompatibility complex, class II, DP alpha 1 0.826407
DMD dystrophin 0.515356
TNPO3 transportin 3 0.446935
STAT4 signal transducer and activator of transcription 4 0.446935
WBSCR17 Williams-Beuren syndrome chromosome region 17 0.43375
MIR99AHG mir-99a-let-7c cluster host gene 0.408692
PSORS1C1 psoriasis susceptibility 1 candidate 1 0.393683
PTPRO protein tyrosine phosphatase, receptor type, O 0.387862
AGER advanced glycosylation end product-specific receptor 0.385188
TNXB tenascin XB 0.385071
CD247 CD247 molecule 0.384433
TNIP1 TNFAIP3 interacting protein 1 0.381141
HLA-DPB1 major histocompatibility complex, class II, DP beta 1 0.379619
SLC24A4 solute carrier family 24 (sodium/potassium/calcium exchanger), member 4 0.375021
HIP1 huntingtin interacting protein 1 0.3742
RELN reelin 0.372031
CDH12 cadherin 12, type 2 (N-cadherin 2) 0.363655
FAT3 FAT atypical cadherin 3 0.361805
SOX5 SRY (sex determining region Y)-box 5 0.361532
HSPA1L heat shock 70kDa protein 1-like 0.358411
PRKCB protein kinase C, beta 0.358241
PAK1 p21 protein (Cdc42/Rac)-activated kinase 1 0.356124
STK19 serine/threonine kinase 19 0.355724
PKNOX2 PBX/knotted 1 homeobox 2 0.354074
ETV1 ets variant 1 0.353819
HLA-DQB2 major histocompatibility complex, class II, DQ beta 2 0.353573
PTPRD protein tyrosine phosphatase, receptor type, D 0.352904
FAM155A family with sequence similarity 155, member A 0.352838
TRPC4 transient receptor potential cation channel, subfamily C, member 4 0.35223
IQGAP2 IQ motif containing GTPase activating protein 2 0.351596
ZNF383 zinc finger protein 383 0.350532
PDE9A phosphodiesterase 9A 0.349536
MSH5 mutS homolog 5 0.347735
DTD1 D-tyrosyl-tRNA deacylase 1 0.345521
CMIP c-Maf inducing protein 0.344661
GRB10 growth factor receptor-bound protein 10 0.34437
C6ORF10 chromosome 6 open reading frame 10 0.341397
PTPRK protein tyrosine phosphatase, receptor type, K 0.338502
EPAS1 endothelial PAS domain protein 1 0.337762
PRCP prolylcarboxypeptidase (angiotensinase C) 0.337723
YAP1 Yes-associated protein 1 0.337684
PRRC2A proline-rich coiled-coil 2A 0.336622
KLHL25 kelch-like family member 25 0.335993
RBFOX1 RNA binding protein, fox-1 homolog (C. elegans) 1 0.333989
MMP8 matrix metallopeptidase 8 0.333989
MGAT5B mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase, isozyme B 0.333707
SLCO6A1 solute carrier organic anion transporter family, member 6A1 0.332582
SLC7A1 solute carrier family 7 (cationic amino acid transporter, y+ system), member 1 0.33246
VPS13C vacuolar protein sorting 13 homolog C (S. cerevisiae) 0.331468
FMN1 formin 1 0.33136
PTPRG protein tyrosine phosphatase, receptor type, G 0.331167
RIMBP2 RIMS binding protein 2 0.330652
QRFPR pyroglutamylated RFamide peptide receptor 0.330454
COMMD10 COMM domain containing 10 0.330183
SIPA1L3 signal-induced proliferation-associated 1 like 3 0.32992
DIAPH3 diaphanous-related formin 3 0.329902
LOC284379 solute carrier family 7 (cationic amino acid transporter, y+ system), member 3 pseudogene 0.329592
TACC2 transforming, acidic coiled-coil containing protein 2 0.329557
LUZP2 leucine zipper protein 2 0.32887
FGF14 fibroblast growth factor 14 0.328821
SALL3 spalt-like transcription factor 3 0.328324
KIAA0895 KIAA0895 0.328262
OPCML opioid binding protein/cell adhesion molecule-like 0.328139
PCDH15 protocadherin-related 15 0.327618
ANGPT4 angiopoietin 4 0.327575
CLSTN2 calsyntenin 2 0.327334
ALPK2 alpha-kinase 2 0.326555
PIBF1 progesterone immunomodulatory binding factor 1 0.326127
ZNF527 zinc finger protein 527 0.325932
KRT82 keratin 82, type II 0.325061
MFSD1 major facilitator superfamily domain containing 1 0.324722
UBE2Q2P1 ubiquitin-conjugating enzyme E2Q family member 2 pseudogene 1 0.324257
PARK2 parkin RBR E3 ubiquitin protein ligase 0.323846
LOC100129620 uncharacterized LOC100129620 0.323496
TNFSF12 tumor necrosis factor (ligand) superfamily, member 12 0.323473
GABRG3 gamma-aminobutyric acid (GABA) A receptor, gamma 3 0.323257
CDH18 cadherin 18, type 2 0.322752
DYSF dysferlin 0.322331
ROR1 receptor tyrosine kinase-like orphan receptor 1 0.321535
SMAD3 SMAD family member 3 0.317633
CNDP2 CNDP dipeptidase 2 (metallopeptidase M20 family) 0.316675
KIF26B kinesin family member 26B 0.316139
DGKQ diacylglycerol kinase, theta 110kDa 0.315572
LRRN1 leucine rich repeat neuronal 1 0.315354
RBMS3 RNA binding motif, single stranded interacting protein 3 0.315152
ASAP1 ArfGAP with SH3 domain, ankyrin repeat and PH domain 1 0.314953
CSMD1 CUB and Sushi multiple domains 1 0.313165
MSRA methionine sulfoxide reductase A 0.313165
ZNF423 zinc finger protein 423 0.312545
PLCE1 phospholipase C, epsilon 1 0.311796
SLIT3 slit homolog 3 (Drosophila) 0.31065
TRMT11 tRNA methyltransferase 11 homolog (S. cerevisiae) 0.308497
WDR33 WD repeat domain 33 0.308137
ZNF496 zinc finger protein 496 0.308058
TFDP2 transcription factor Dp-2 (E2F dimerization partner 2) 0.307634
CACNA2D1 calcium channel, voltage-dependent, alpha 2/delta subunit 1 0.307371
GPHN gephyrin 0.307223
LOC100287944 uncharacterized LOC100287944 0.306163
KIF7 kinesin family member 7 0.305795
ZNF146 zinc finger protein 146 0.305795
FLJ45872 0.305341
PEX14 peroxisomal biogenesis factor 14 0.304358
TMEM135 transmembrane protein 135 0.303118
PTPRT protein tyrosine phosphatase, receptor type, T 0.303011
CD209 CD209 molecule 0.301442
SFSWAP splicing factor, suppressor of white-apricot family 0.299346
EFNA5 ephrin-A5 0.298831
APBB2 amyloid beta (A4) precursor protein-binding, family B, member 2 0.298282
LMO7 LIM domain 7 0.297991
CDKAL1 CDK5 regulatory subunit associated protein 1-like 1 0.297871
TPPP tubulin polymerization promoting protein 0.2978
GPR155 G protein-coupled receptor 155 0.296809
FGD4 FYVE, RhoGEF and PH domain containing 4 0.29626
ARMC9 armadillo repeat containing 9 0.296153
TSPAN16 tetraspanin 16 0.295898
IRAK2 interleukin-1 receptor-associated kinase 2 0.295751
ASXL2 additional sex combs like transcriptional regulator 2 0.295482
NOL10 nucleolar protein 10 0.295359
CHODL chondrolectin 0.294917
NPAS3 neuronal PAS domain protein 3 0.294779
ZNF585A zinc finger protein 585A 0.294759
ROBO2 roundabout, axon guidance receptor, homolog 2 (Drosophila) 0.29474
C1QB complement component 1, q subcomponent, B chain 0.2939
CDYL2 chromodomain protein, Y-like 2 0.293734
SUSD3 sushi domain containing 3 0.293388
CADPS2 Ca++-dependent secretion activator 2 0.293015
FBXO32 F-box protein 32 0.29298
PAK7 p21 protein (Cdc42/Rac)-activated kinase 7 0.292806
FOXP1 forkhead box P1 0.292685
HPGDS hematopoietic prostaglandin D synthase 0.292685
RALGAPA2 Ral GTPase activating protein, alpha subunit 2 (catalytic) 0.29248
DPYSL3 dihydropyrimidinase-like 3 0.292379
LINC00486 long intergenic non-protein coding RNA 486 0.291913
C1ORF87 chromosome 1 open reading frame 87 0.291178
STIM2 stromal interaction molecule 2 0.291022
FRMD4A FERM domain containing 4A 0.290716
TP63 tumor protein p63 0.290416
LOC100507462 uncharacterized LOC100507462 0.290267
CREB5 cAMP responsive element binding protein 5 0.288725
REN renin 0.28833
ABCD1 ATP-binding cassette, sub-family D (ALD), member 1 0.286959
TENM1 teneurin transmembrane protein 1 0.284935
KISS1 KiSS-1 metastasis-suppressor 0.284556
CELSR1 cadherin, EGF LAG seven-pass G-type receptor 1 0.284556
TMEM260 transmembrane protein 260 0.28382
TSPAN9 tetraspanin 9 0.2837
MYOM2 myomesin 2 0.283346
CHN2 chimerin 2 0.282997
AIRE autoimmune regulator 0.282321
COL23A1 collagen, type XXIII, alpha 1 0.28221
CADPS Ca++-dependent secretion activator 0.281883
LGMN legumain 0.281561
PTPRN2 protein tyrosine phosphatase, receptor type, N polypeptide 2 0.280132
IL12RB2 interleukin 12 receptor, beta 2 0.279743
PDZD8 PDZ domain containing 8 0.279176
STK3 serine/threonine kinase 3 0.27899
DAB1 Dab, reelin signal transducer, homolog 1 (Drosophila) 0.278898
TTLL11 tubulin tyrosine ligase-like family member 11 0.278535
PRMT3 protein arginine methyltransferase 3 0.278356
EGFEM1P EGF-like and EMI domain containing 1, pseudogene 0.278179
MLLT4 myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4 0.278179
TNIK TRAF2 and NCK interacting kinase 0.278179
TRIM23 tripartite motif containing 23 0.278091
NUB1 negative regulator of ubiquitin-like proteins 1 0.277916
TGFB2 transforming growth factor, beta 2 0.277916
T T, brachyury homolog (mouse) 0.27783
GTPBP8 GTP-binding protein 8 (putative) 0.277234
CHL1 cell adhesion molecule L1-like 0.277234
KCNK9 potassium channel, two pore domain subfamily K, member 9 0.276497
ACSS1 acyl-CoA synthetase short-chain family member 1 0.276337
KIN Kin17 DNA and RNA binding protein 0.275634
GRID2 glutamate receptor, ionotropic, delta 2 0.275255
ASTN2 astrotactin 2 0.275181
LPP LIM domain containing preferred translocation partner in lipoma 0.275032
LASP1 LIM and SH3 protein 1 0.274811
BCAP31 B-cell receptor-associated protein 31 0.274665
DPP10 dipeptidyl-peptidase 10 (non-functional) 0.273609
TTC27 tetratricopeptide repeat domain 27 0.273338
NKAIN2 Na+/K+ transporting ATPase interacting 2 0.272807
NAA16 N(alpha)-acetyltransferase 16, NatA auxiliary subunit 0.272807
CABS1 calcium-binding protein, spermatid-specific 1 0.272676
BMPER BMP binding endothelial regulator 0.272676
TICRR TOPBP1-interacting checkpoint and replication regulator 0.271852
PALLD palladin, cytoskeletal associated protein 0.271728
COL4A2 collagen, type IV, alpha 2 0.271363
BICC1 BicC family RNA binding protein 1 0.271183
ANK2 ankyrin 2, neuronal 0.270887
CFAP43 cilia and flagella associated protein 43 0.270423
NSRP1 nuclear speckle splicing regulatory protein 1 0.270309
AMPH amphiphysin 0.270309
HLX H2.0-like homeobox 0.270027
NDUFA10 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 10, 42kDa 0.269916
LIPC lipase, hepatic 0.26986
CARD6 caspase recruitment domain family, member 6 0.26886
GRAMD1B GRAM domain containing 1B 0.267984
PIK3R3 phosphoinositide-3-kinase, regulatory subunit 3 (gamma) 0.267644
MAST2 microtubule associated serine/threonine kinase 2 0.26709
DDIAS DNA damage-induced apoptosis suppressor 0.261257
SLC44A4 solute carrier family 44, member 4 0.255446