abnormal hemoglobin Gene Set

Dataset GWASdb SNP-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description Anomaly in the level or the function of hemoglobin, the oxygen-carrying protein of erythrocytes. (Human Phenotype Ontology, HP_0011902)
External Link http://jjwanglab.org/gwasdb/gwasdb2/gwasdb2/go_trait/HP:0011902
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Genes

362 genes associated with the abnormal hemoglobin 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
NPRL3 nitrogen permease regulator-like 3 (S. cerevisiae) 2.67378
GGT1 gamma-glutamyltransferase 1 2.63404
HK1 hexokinase 1 2.59582
TMPRSS6 transmembrane protease, serine 6 2.31321
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
FN3KRP fructosamine 3 kinase related protein 2.13087
SLC2A9 solute carrier family 2 (facilitated glucose transporter), member 9 2.07915
G6PD glucose-6-phosphate dehydrogenase 2.00923
GCK glucokinase (hexokinase 4) 1.99238
HFE hemochromatosis 1.95577
SH2B3 SH2B adaptor protein 3 1.91141
ABCB11 ATP-binding cassette, sub-family B (MDR/TAP), member 11 1.86166
PRKAG2 protein kinase, AMP-activated, gamma 2 non-catalytic subunit 1.73304
HBBP1 hemoglobin, beta pseudogene 1 1.73304
LIPC lipase, hepatic 1.68604
RCL1 RNA terminal phosphate cyclase-like 1 1.67051
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
PRKCE protein kinase C, epsilon 1.57384
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
CDKAL1 CDK5 regulatory subunit associated protein 1-like 1 1.53296
ANK1 ankyrin 1, erythrocytic 1.5239
GCDH glutaryl-CoA dehydrogenase 1.51005
GCKR glucokinase (hexokinase 4) regulator 1.50656
GPLD1 glycosylphosphatidylinositol specific phospholipase D1 1.48419
CAPN15 calpain 15 1.47083
THPO thrombopoietin 1.45654
BCL11A B-cell CLL/lymphoma 11A (zinc finger protein) 1.43716
SLC14A2 solute carrier family 14 (urea transporter), member 2 1.41863
ITFG3 integrin alpha FG-GAP repeat containing 3 1.40061
TNFRSF13B tumor necrosis factor receptor superfamily, member 13B 1.40061
THRB thyroid hormone receptor, beta 1.39376
G6PC2 glucose-6-phosphatase, catalytic, 2 1.37994
TIMM23 translocase of inner mitochondrial membrane 23 homolog (yeast) 1.37339
ALDH2 aldehyde dehydrogenase 2 family (mitochondrial) 1.36671
MYO9B myosin IXB 1.34581
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
SPTA1 spectrin, alpha, erythrocytic 1 1.30781
ATP11AUN ATP11A upstream neighbor 1.28282
BRAP BRCA1 associated protein 1.28282
SYNPO synaptopodin 1.27461
SAMM50 SAMM50 sorting and assembly machinery component 1.26441
CRIPT cysteine-rich PDZ-binding protein 1.25178
UBE2L3 ubiquitin-conjugating enzyme E2L 3 1.24751
WDR72 WD repeat domain 72 1.22485
CDK6 cyclin-dependent kinase 6 1.21853
YKT6 YKT6 v-SNARE homolog (S. cerevisiae) 1.21006
XPO7 exportin 7 1.19958
TERT telomerase reverse transcriptase 1.19958
RPS11 ribosomal protein S11 1.19958
MPST mercaptopyruvate sulfurtransferase 1.19262
LRP2 low density lipoprotein receptor-related protein 2 1.1898
ABO ABO blood group (transferase A, alpha 1-3-N-acetylgalactosaminyltransferase; transferase B, alpha 1-3-galactosyltransferase) 1.18704
TYMP thymidine phosphorylase 1.18704
CCDC162P coiled-coil domain containing 162, pseudogene 1.17972
SLC30A8 solute carrier family 30 (zinc transporter), member 8 1.1784
ATP6V1E2 ATPase, H+ transporting, lysosomal 31kDa, V1 subunit E2 1.15763
ATP2B4 ATPase, Ca++ transporting, plasma membrane 4 1.15743
TCF7L2 transcription factor 7-like 2 (T-cell specific, HMG-box) 1.15352
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
SCN2B sodium channel, voltage gated, type II beta subunit 1.05775
GALP galanin-like peptide 1.05616
TNFRSF11A tumor necrosis factor receptor superfamily, member 11a, NFKB activator 1.05157
NCAPH2 non-SMC condensin II complex, subunit H2 1.04365
SLIT3 slit homolog 3 (Drosophila) 1.03818
CMTM8 CKLF-like MARVEL transmembrane domain containing 8 1.03704
EPO erythropoietin 1.02729
MMP25 matrix metallopeptidase 25 1.02729
SMAD1 SMAD family member 1 1.02289
SULT1C2P1 sulfotransferase family, cytosolic, 1C, member 2 pseudogene 1 0.977911
HPCAL1 hippocalcin-like 1 0.968323
ALX4 ALX homeobox 4 0.952642
SGCZ sarcoglycan, zeta 0.939379
NTMT1 N-terminal Xaa-Pro-Lys N-methyltransferase 1 0.929444
C11ORF74 chromosome 11 open reading frame 74 0.90474
UBN1 ubinuclein 1 0.902478
MAEL maelstrom spermatogenic transposon silencer 0.902478
LOC643339 uncharacterized LOC643339 0.900455
PPL periplakin 0.898124
EPAS1 endothelial PAS domain protein 1 0.897419
PSD3 pleckstrin and Sec7 domain containing 3 0.896546
OCA2 oculocutaneous albinism II 0.894996
FLJ41278 uncharacterized LOC400046 0.893139
PNMA2 paraneoplastic Ma antigen 2 0.890162
CTNND2 catenin (cadherin-associated protein), delta 2 0.882504
HGF hepatocyte growth factor (hepapoietin A; scatter factor) 0.882344
PDGFRL platelet-derived growth factor receptor-like 0.879522
PIGF phosphatidylinositol glycan anchor biosynthesis, class F 0.856777
MGAT5 mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase 0.853555
SDHAP3 succinate dehydrogenase complex, subunit A, flavoprotein pseudogene 3 0.853555
GYPC glycophorin C (Gerbich blood group) 0.853204
OLAH oleoyl-ACP hydrolase 0.849998
NUDT8 nudix (nucleoside diphosphate linked moiety X)-type motif 8 0.849774
MSRB3 methionine sulfoxide reductase B3 0.846476
NRXN3 neurexin 3 0.841148
UNC13A unc-13 homolog A (C. elegans) 0.840142
CAMKMT calmodulin-lysine N-methyltransferase 0.831588
GRXCR1 glutaredoxin, cysteine rich 1 0.827192
CAB39L calcium binding protein 39-like 0.81601
GALNS galactosamine (N-acetyl)-6-sulfatase 0.814503
TCF7L1 transcription factor 7-like 1 (T-cell specific, HMG-box) 0.807106
USH2A Usher syndrome 2A (autosomal recessive, mild) 0.800318
ASPDH aspartate dehydrogenase domain containing 0.799025
MARCH1 membrane-associated ring finger (C3HC4) 1, E3 ubiquitin protein ligase 0.792855
CAMK2D calcium/calmodulin-dependent protein kinase II delta 0.792263
WDR7 WD repeat domain 7 0.789787
CACNA1C calcium channel, voltage-dependent, L type, alpha 1C subunit 0.789787
GRAMD1B GRAM domain containing 1B 0.787244
PTGES prostaglandin E synthase 0.784773
NFASC neurofascin 0.782369
NUP35 nucleoporin 35kDa 0.782369
PARVB parvin, beta 0.781779
PRDM16 PR domain containing 16 0.777194
RYR2 ryanodine receptor 2 (cardiac) 0.771265
ASTN2 astrotactin 2 0.768701
BRE brain and reproductive organ-expressed (TNFRSF1A modulator) 0.768701
CEP128 centrosomal protein 128kDa 0.768197
BANK1 B-cell scaffold protein with ankyrin repeats 1 0.767696
ADH4 alcohol dehydrogenase 4 (class II), pi polypeptide 0.766212
UNQ6494 uncharacterized LOC100129066 0.762459
ABCA1 ATP-binding cassette, sub-family A (ABC1), member 1 0.760343
CSF3R colony stimulating factor 3 receptor (granulocyte) 0.755753
FSTL4 follistatin-like 4 0.754763
ARHGAP15 Rho GTPase activating protein 15 0.753784
IFNGR1 interferon gamma receptor 1 0.750909
PALLD palladin, cytoskeletal associated protein 0.750439
CHADL chondroadherin-like 0.74997
OTULIN OTU deubiquitinase with linear linkage specificity 0.747212
DTHD1 death domain containing 1 0.747212
SLC38A7 solute carrier family 38, member 7 0.744976
NOSTRIN nitric oxide synthase trafficking 0.742794
AGAP1 ArfGAP with GTPase domain, ankyrin repeat and PH domain 1 0.741936
PAX9 paired box 9 0.738997
L3MBTL2 l(3)mbt-like 2 (Drosophila) 0.737224
PACRG PARK2 co-regulated 0.734094
CSMD1 CUB and Sushi multiple domains 1 0.729791
MTUS1 microtubule associated tumor suppressor 1 0.727711
RBFOX1 RNA binding protein, fox-1 homolog (C. elegans) 1 0.725273
PPP2R2C protein phosphatase 2, regulatory subunit B, gamma 0.722505
PPM1H protein phosphatase, Mg2+/Mn2+ dependent, 1H 0.722116
RGS21 regulator of G-protein signaling 21 0.717572
DUSP19 dual specificity phosphatase 19 0.713947
TBX10 T-box 10 0.713239
KCNK17 potassium channel, two pore domain subfamily K, member 17 0.712186
ASB2 ankyrin repeat and SOCS box containing 2 0.710801
DMRT1 doublesex and mab-3 related transcription factor 1 0.709012
MBNL2 muscleblind-like splicing regulator 2 0.707154
PCCA propionyl CoA carboxylase, alpha polypeptide 0.704969
DLG2 discs, large homolog 2 (Drosophila) 0.702479
MYO3B myosin IIIB 0.701084
LOC339529 uncharacterized LOC339529 0.70005
PHTF2 putative homeodomain transcription factor 2 0.696351
CD200R1 CD200 receptor 1 0.695366
APOC1 apolipoprotein C-I 0.690896
EXT2 exostosin glycosyltransferase 2 0.690896
SEZ6L seizure related 6 homolog (mouse)-like 0.683974
CLVS1 clavesin 1 0.683974
GRIK2 glutamate receptor, ionotropic, kainate 2 0.682247
PPFIBP2 PTPRF interacting protein, binding protein 2 (liprin beta 2) 0.681963
WNT3 wingless-type MMTV integration site family, member 3 0.680832
WDPCP WD repeat containing planar cell polarity effector 0.680552
TRHDE thyrotropin-releasing hormone degrading enzyme 0.67542
CWC22 CWC22 spliceosome-associated protein 0.67307
DNER delta/notch-like EGF repeat containing 0.672779
OTX2-AS1 OTX2 antisense RNA 1 (head to head) 0.672779
MYRIP myosin VIIA and Rab interacting protein 0.671056
CRTAC1 cartilage acidic protein 1 0.671056
NRG3 neuregulin 3 0.669082
DAO D-amino-acid oxidase 0.66233
OSBPL6 oxysterol binding protein-like 6 0.660518
MDGA2 MAM domain containing glycosylphosphatidylinositol anchor 2 0.660518
C8B complement component 8, beta polypeptide 0.657985
ZNF652 zinc finger protein 652 0.655272
MECOM MDS1 and EVI1 complex locus 0.654304
SERGEF secretion regulating guanine nucleotide exchange factor 0.653584
GLDC glycine dehydrogenase (decarboxylating) 0.652159
SULT1C4 sulfotransferase family, cytosolic, 1C, member 4 0.65006
FAM134B family with sequence similarity 134, member B 0.645377
CASP3 caspase 3, apoptosis-related cysteine peptidase 0.641033
NDST4 N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4 0.638234
NELL1 NEL-like 1 (chicken) 0.636635
LINC00578 long intergenic non-protein coding RNA 578 0.636183
ACVR1B activin A receptor, type IB 0.634615
OR2L13 olfactory receptor, family 2, subfamily L, member 13 0.631333
ZDHHC19 zinc finger, DHHC-type containing 19 0.629202
IGF2BP3 insulin-like growth factor 2 mRNA binding protein 3 0.626701
FAM19A5 family with sequence similarity 19 (chemokine (C-C motif)-like), member A5 0.626086
DGKB diacylglycerol kinase, beta 90kDa 0.625677
FXYD1 FXYD domain containing ion transport regulator 1 0.625067
NBEA neurobeachin 0.624663
CLSTN2 calsyntenin 2 0.620125
PTPRD protein tyrosine phosphatase, receptor type, D 0.620125
TNIK TRAF2 and NCK interacting kinase 0.619547
TBCA tubulin folding cofactor A 0.616311
OTOG otogelin 0.615542
SLC25A37 solute carrier family 25 (mitochondrial iron transporter), member 37 0.61516
SLC16A9 solute carrier family 16, member 9 0.61421
NRIP1 nuclear receptor interacting protein 1 0.611966
DPYSL2 dihydropyrimidinase-like 2 0.611413
EPHA7 EPH receptor A7 0.607797
LHPP phospholysine phosphohistidine inorganic pyrophosphate phosphatase 0.607266
WDR66 WD repeat domain 66 0.606562
LOC400682 zinc finger protein 100-like 0.605688
CPAMD8 C3 and PZP-like, alpha-2-macroglobulin domain containing 8 0.603964
NPM2 nucleophosmin/nucleoplasmin 2 0.600766
ARSB arylsulfatase B 0.596389
KCNQ3 potassium channel, voltage gated KQT-like subfamily Q, member 3 0.595757
FAM171A1 family with sequence similarity 171, member A1 0.594816
GLYR1 glyoxylate reductase 1 homolog (Arabidopsis) 0.591742
AVL9 AVL9 homolog (S. cerevisiase) 0.59159
EP300 E1A binding protein p300 0.590389
CTBP2 C-terminal binding protein 2 0.590389
HDAC4 histone deacetylase 4 0.590091
THSD4 thrombospondin, type I, domain containing 4 0.589054
PRAMEF12 PRAME family member 12 0.588613
NCOA1 nuclear receptor coactivator 1 0.587592
ITGA9 integrin, alpha 9 0.586295
ATP6V1B2 ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B2 0.585259
SYT17 synaptotagmin XVII 0.581386
RTFDC1 replication termination factor 2 domain containing 1 0.581149
ENTPD3 ectonucleoside triphosphate diphosphohydrolase 3 0.57928
CEP63 centrosomal protein 63kDa 0.578132
ANP32C acidic (leucine-rich) nuclear phosphoprotein 32 family, member C 0.578018
ANO6 anoctamin 6 0.577337
FBLN2 fibulin 2 0.577111
TPM4 tropomyosin 4 0.576102
GPC6 glypican 6 0.57588
FRMD4A FERM domain containing 4A 0.574776
DHRS3 dehydrogenase/reductase (SDR family) member 3 0.574338
LOC100507424 uncharacterized LOC100507424 0.574229
NRXN1 neurexin 1 0.569663
SH3BP5 SH3-domain binding protein 5 (BTK-associated) 0.568635
ZBP1 Z-DNA binding protein 1 0.56762
WWC1 WW and C2 domain containing 1 0.56762
LOC643770 uncharacterized LOC643770 0.56762
ATXN8OS ATXN8 opposite strand (non-protein coding) 0.566616
ZAN zonadhesin (gene/pseudogene) 0.564644
ITGA8 integrin, alpha 8 0.563675
ADH7 alcohol dehydrogenase 7 (class IV), mu or sigma polypeptide 0.563675
TIMP3 TIMP metallopeptidase inhibitor 3 0.562717
PRICKLE2 prickle homolog 2 (Drosophila) 0.558686
LARGE like-glycosyltransferase 0.558007
PIGB phosphatidylinositol glycan anchor biosynthesis, class B 0.55536
CCDC138 coiled-coil domain containing 138 0.554715
DUOXA1 dual oxidase maturation factor 1 0.554715
TMEM2 transmembrane protein 2 0.554075
LIMCH1 LIM and calponin homology domains 1 0.553442
PLXNA4 plexin A4 0.552194
NAV2 neuron navigator 2 0.551579
LOC100128714 uncharacterized LOC100128714 0.551579
RFC2 replication factor C (activator 1) 2, 40kDa 0.550365
DPP8 dipeptidyl-peptidase 8 0.549767
PTPRM protein tyrosine phosphatase, receptor type, M 0.546287
COL26A1 collagen, type XXVI, alpha 1 0.544615
IQSEC3 IQ motif and Sec7 domain 3 0.543523
RNF212 ring finger protein 212 0.541144
PDE10A phosphodiesterase 10A 0.539897
GBE1 glucan (1,4-alpha-), branching enzyme 1 0.53868
TDO2 tryptophan 2,3-dioxygenase 0.53671
HACE1 HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1 0.534439
FOCAD focadhesin 0.534439
FXYD3 FXYD domain containing ion transport regulator 3 0.53407
ABCB1 ATP-binding cassette, sub-family B (MDR/TAP), member 1 0.53334
DSCAML1 Down syndrome cell adhesion molecule like 1 0.53334
CTNNA2 catenin (cadherin-associated protein), alpha 2 0.532619
MYO19 myosin XIX 0.532619
TMEM201 transmembrane protein 201 0.531207
IGF1R insulin-like growth factor 1 receptor 0.529832
RIMS1 regulating synaptic membrane exocytosis 1 0.529832
TCP11 t-complex 11, testis-specific 0.529494
DUOX2 dual oxidase 2 0.528162
CAPN2 calpain 2, (m/II) large subunit 0.527524
FSTL5 follistatin-like 5 0.527524
GSDMC gasdermin C 0.526896
OSBPL5 oxysterol binding protein-like 5 0.526896
GLIS3 GLIS family zinc finger 3 0.524758
LTA lymphotoxin alpha 0.524758
CFAP47 cilia and flagella associated protein 47 0.523576
TLL1 tolloid-like 1 0.523285
MAP7 microtubule-associated protein 7 0.51884
MCTP2 multiple C2 domains, transmembrane 2 0.517271
MAK male germ cell-associated kinase 0.516758
KDM4B lysine (K)-specific demethylase 4B 0.515749
STK40 serine/threonine kinase 40 0.515252
ZNF804B zinc finger protein 804B 0.515005
DAB1 Dab, reelin signal transducer, homolog 1 (Drosophila) 0.51476
ABCA13 ATP-binding cassette, sub-family A (ABC1), member 13 0.514509
WWOX WW domain containing oxidoreductase 0.514509
NT5DC3 5'-nucleotidase domain containing 3 0.513999
AKAP12 A kinase (PRKA) anchor protein 12 0.513746
GRIA4 glutamate receptor, ionotropic, AMPA 4 0.512746
TMEM132D transmembrane protein 132D 0.512253
CDCP1 CUB domain containing protein 1 0.512253
GABBR2 gamma-aminobutyric acid (GABA) B receptor, 2 0.512253
KALRN kalirin, RhoGEF kinase 0.512008
MKKS McKusick-Kaufman syndrome 0.511041
SMARCA2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 0.510802
PDE4D phosphodiesterase 4D, cAMP-specific 0.510327
UBTD1 ubiquitin domain containing 1 0.510092
DAGLB diacylglycerol lipase, beta 0.509159
CNOT1 CCR4-NOT transcription complex, subunit 1 0.508929
ZBTB20 zinc finger and BTB domain containing 20 0.508929
RAB27A RAB27A, member RAS oncogene family 0.507568
DEPDC1B DEP domain containing 1B 0.506901
KCNH5 potassium channel, voltage gated eag related subfamily H, member 5 0.505808
SLC45A2 solute carrier family 45, member 2 0.50369
NFATC4 nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 4 0.501459
ISPD isoprenoid synthase domain containing 0.501459
ARL15 ADP-ribosylation factor-like 15 0.498187
SOCS5 suppressor of cytokine signaling 5 0.497589
FAM188B family with sequence similarity 188, member B 0.497193
FREM2 FRAS1 related extracellular matrix protein 2 0.49545
RPL34 ribosomal protein L34 0.493763
PDE7B phosphodiesterase 7B 0.489341
FAT3 FAT atypical cadherin 3 0.487671
FAM161A family with sequence similarity 161, member A 0.485988
ITPR2 inositol 1,4,5-trisphosphate receptor, type 2 0.485988
DTX3L deltex 3 like, E3 ubiquitin ligase 0.483588
CFH complement factor H 0.482921
FGFR2 fibroblast growth factor receptor 2 0.480329
URB1 URB1 ribosome biogenesis 1 homolog (S. cerevisiae) 0.4797
C5 complement component 5 0.478614
B3GAT2 beta-1,3-glucuronyltransferase 2 0.477701
ADRA1A adrenoceptor alpha 1A 0.474332
SLC4A7 solute carrier family 4, sodium bicarbonate cotransporter, member 7 0.472653
RANGAP1 Ran GTPase activating protein 1 0.471968
MYB v-myb avian myeloblastosis viral oncogene homolog 0.470822
NUDT3 nudix (nucleoside diphosphate linked moiety X)-type motif 3 0.469948
PHF21B PHD finger protein 21B 0.469948
DFNB31 deafness, autosomal recessive 31 0.468945
ASRGL1 asparaginase like 1 0.46768
SORD sorbitol dehydrogenase 0.467403
SGCD sarcoglycan, delta (35kDa dystrophin-associated glycoprotein) 0.467403
CDH22 cadherin 22, type 2 0.467264
TRAPPC9 trafficking protein particle complex 9 0.466851
SLC17A3 solute carrier family 17 (organic anion transporter), member 3 0.466034
MOV10L1 Mov10 RISC complex RNA helicase like 1 0.465899
POU2F3 POU class 2 homeobox 3 0.465899
CCT4 chaperonin containing TCP1, subunit 4 (delta) 0.46404
ALG6 ALG6, alpha-1,3-glucosyltransferase 0.45796
TFRC transferrin receptor 0.449892
RNF181 ring finger protein 181 0.448022
MLX MLX, MAX dimerization protein 0.44303
HLTF helicase-like transcription factor 0.438063
SCN7A sodium channel, voltage gated, type VII alpha subunit 0.437914
PLA2G4C phospholipase A2, group IVC (cytosolic, calcium-independent) 0.435801
QSER1 glutamine and serine rich 1 0.42808
USP53 ubiquitin specific peptidase 53 0.424692