abnormal platelet count Gene Set

Dataset GWASdb SNP-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description Abnormal number of platelets per volume of blood. In a healthy adult, a normal platelet count is between 150,000 and 450,000 per microliter of blood. (Human Phenotype Ontology, HP_0011873)
External Link http://jjwanglab.org/gwasdb/gwasdb2/gwasdb2/go_trait/HP:0011873
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Genes

148 genes associated with the abnormal platelet count 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
ARHGEF3 Rho guanine nucleotide exchange factor (GEF) 3 2.59582
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
RCL1 RNA terminal phosphate cyclase-like 1 2.21785
CCND3 cyclin D3 2.20594
SH2B3 SH2B adaptor protein 3 2.13576
TMPRSS6 transmembrane protease, serine 6 2.10221
PSMD13 proteasome (prosome, macropain) 26S subunit, non-ATPase, 13 2.09881
JMJD1C jumonji domain containing 1C 2.09177
SLC2A9 solute carrier family 2 (facilitated glucose transporter), member 9 2.07915
G6PD glucose-6-phosphate dehydrogenase 2.00923
TAOK1 TAO kinase 1 1.87544
LRRC16A leucine rich repeat containing 16A 1.85941
ZFPM2 zinc finger protein, FOG family member 2 1.83896
HFE hemochromatosis 1.75707
LIPC lipase, hepatic 1.68604
SLFN14 schlafen family member 14 1.67051
PSMD3 proteasome (prosome, macropain) 26S subunit, non-ATPase, 3 1.66327
TMCC2 transmembrane and coiled-coil domain family 2 1.66286
CDKN2A cyclin-dependent kinase inhibitor 2A 1.6456
EHD3 EH-domain containing 3 1.63535
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
DNM3 dynamin 3 1.54733
BAK1 BCL2-antagonist/killer 1 1.54733
GP1BA glycoprotein Ib (platelet), alpha polypeptide 1.54733
MARCH8 membrane-associated ring finger (C3HC4) 8, E3 ubiquitin protein ligase 1.53426
ABCC4 ATP-binding cassette, sub-family C (CFTR/MRP), member 4 1.52026
GCKR glucokinase (hexokinase 4) regulator 1.50656
GPLD1 glycosylphosphatidylinositol specific phospholipase D1 1.48419
THPO thrombopoietin 1.45654
CABLES1 Cdk5 and Abl enzyme substrate 1 1.45654
CBL Cbl proto-oncogene, E3 ubiquitin protein ligase 1.44286
IRF1 interferon regulatory factor 1 1.43716
THADA thyroid adenoma associated 1.43716
WDR66 WD repeat domain 66 1.43716
HLA-DOA major histocompatibility complex, class II, DO alpha 1.43716
ITPK1 inositol-tetrakisphosphate 1-kinase 1.43716
PRKAG2 protein kinase, AMP-activated, gamma 2 non-catalytic subunit 1.42629
BAZ2A bromodomain adjacent to zinc finger domain, 2A 1.41863
EXOC3L4 exocyst complex component 3-like 4 1.41863
BRD3 bromodomain containing 3 1.41863
RAD51B RAD51 paralog B 1.41863
SLC14A2 solute carrier family 14 (urea transporter), member 2 1.41863
TNFRSF13B tumor necrosis factor receptor superfamily, member 13B 1.40061
TPM4 tropomyosin 4 1.40061
FEN1 flap structure-specific endonuclease 1 1.40061
THRB thyroid hormone receptor, beta 1.39376
PLEC plectin 1.37994
TIMM23 translocase of inner mitochondrial membrane 23 homolog (yeast) 1.37339
ALDH2 aldehyde dehydrogenase 2 family (mitochondrial) 1.36671
HLA-B major histocompatibility complex, class I, B 1.35901
MEF2C myocyte enhancer factor 2C 1.35521
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
PDIA5 protein disulfide isomerase family A, member 5 1.29386
BRAP BRCA1 associated protein 1.28282
TRIM58 tripartite motif containing 58 1.27347
SAMM50 SAMM50 sorting and assembly machinery component 1.26441
MFN2 mitofusin 2 1.24751
UBE2L3 ubiquitin-conjugating enzyme E2L 3 1.24751
WDR72 WD repeat domain 72 1.22485
CDK6 cyclin-dependent kinase 6 1.21853
XPO7 exportin 7 1.19958
ARVCF armadillo repeat gene deleted in velocardiofacial syndrome 1.19958
RPS11 ribosomal protein S11 1.19958
TERT telomerase reverse transcriptase 1.19958
LRP2 low density lipoprotein receptor-related protein 2 1.1898
PRKCE protein kinase C, epsilon 1.18904
TYMP thymidine phosphorylase 1.18704
ABO ABO blood group (transferase A, alpha 1-3-N-acetylgalactosaminyltransferase; transferase B, alpha 1-3-galactosyltransferase) 1.18704
CCDC162P coiled-coil domain containing 162, pseudogene 1.17972
COPZ1 coatomer protein complex, subunit zeta 1 1.1784
TFR2 transferrin receptor 2 1.13677
CETP cholesteryl ester transfer protein, plasma 1.13544
BAZ1B bromodomain adjacent to zinc finger domain, 1B 1.11203
GPC6 glypican 6 1.09234
MMP26 matrix metallopeptidase 26 1.08891
ITGA4 integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor) 1.08659
BCAS3 breast carcinoma amplified sequence 3 1.06759
GALP galanin-like peptide 1.05616
NCAPH2 non-SMC condensin II complex, subunit H2 1.04365
EPO erythropoietin 1.02729
MMP25 matrix metallopeptidase 25 1.02729
ABCB9 ATP-binding cassette, sub-family B (MDR/TAP), member 9 1.00059
PITPNM2 phosphatidylinositol transfer protein, membrane-associated 2 0.969142
SGCZ sarcoglycan, zeta 0.885919
FGGY FGGY carbohydrate kinase domain containing 0.873412
DPYD dihydropyrimidine dehydrogenase 0.855449
ITFG3 integrin alpha FG-GAP repeat containing 3 0.854024
EYS eyes shut homolog (Drosophila) 0.847234
PTGER3 prostaglandin E receptor 3 (subtype EP3) 0.837193
DCC DCC netrin 1 receptor 0.81905
PLCB4 phospholipase C, beta 4 0.808534
PRKG1 protein kinase, cGMP-dependent, type I 0.805703
SOX5 SRY (sex determining region Y)-box 5 0.799025
PLA2G2C phospholipase A2, group IIC 0.798387
MYOF myoferlin 0.7965
MPL MPL proto-oncogene, thrombopoietin receptor 0.794052
CDC20 cell division cycle 20 0.794052
FOXP2 forkhead box P2 0.789144
CCDC102B coiled-coil domain containing 102B 0.78662
PARD3B par-3 family cell polarity regulator beta 0.784165
ABCA1 ATP-binding cassette, sub-family A (ABC1), member 1 0.760343
RPS6KA2 ribosomal protein S6 kinase, 90kDa, polypeptide 2 0.743226
MIA2 melanoma inhibitory activity 2 0.736319
SP140L SP140 nuclear body protein-like 0.709765
PARK2 parkin RBR E3 ubiquitin protein ligase 0.704609
GCDH glutaryl-CoA dehydrogenase 0.700393
LRRC4B leucine rich repeat containing 4B 0.70005
NPAS3 neuronal PAS domain protein 3 0.690896
APOC1 apolipoprotein C-I 0.690896
NAALADL2 N-acetylated alpha-linked acidic dipeptidase-like 2 0.682819
MICA MHC class I polypeptide-related sequence A 0.676917
KCNQ1 potassium channel, voltage gated KQT-like subfamily Q, member 1 0.671627
CNNM1 cyclin and CBS domain divalent metal cation transport mediator 1 0.659497
CAPN9 calpain 9 0.65625
TRPV4 transient receptor potential cation channel, subfamily V, member 4 0.655272
MRAS muscle RAS oncogene homolog 0.647367
CECR6 cat eye syndrome chromosome region, candidate 6 0.645131
NELL1 NEL-like 1 (chicken) 0.643183
COL24A1 collagen, type XXIV, alpha 1 0.641983
CD109 CD109 molecule 0.641507
TRAPPC6B trafficking protein particle complex 6B 0.631549
SLMO2 slowmo homolog 2 (Drosophila) 0.627944
SLC6A1 solute carrier family 6 (neurotransmitter transporter), member 1 0.625067
SP140 SP140 nuclear body protein 0.62227
GRIP1 glutamate receptor interacting protein 1 0.616311
MAK male germ cell-associated kinase 0.602605
OSBPL6 oxysterol binding protein-like 6 0.599122
CD36 CD36 molecule (thrombospondin receptor) 0.598311
TSG101 tumor susceptibility 101 0.589349
MED24 mediator complex subunit 24 0.587883
SORBS1 sorbin and SH3 domain containing 1 0.584643
CNTN4 contactin 4 0.582458
PIEZO1 piezo-type mechanosensitive ion channel component 1 0.582219
RALYL RALY RNA binding protein-like 0.57412
ZAN zonadhesin (gene/pseudogene) 0.564644
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