erythrocyte indices Gene Set

Dataset GAD Gene-Disease Associations
Category disease or phenotype associations
Type disease
Description ERYTHROCYTE size and HEMOGLOBIN content or concentration, usually derived from ERYTHROCYTE COUNT; BLOOD hemoglobin concentration; and HEMATOCRIT. The indices include the mean corpuscular volume (MCV), the mean corpuscular hemoglobin (MCH), and the mean corpuscular hemoglobin concentration (MCHC). (Experimental Factor Ontology, EFO_0004306)
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Genes

60 genes associated with the disease erythrocyte indices in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

Symbol Name
ABO ABO blood group (transferase A, alpha 1-3-N-acetylgalactosaminyltransferase; transferase B, alpha 1-3-galactosyltransferase)
ALDH2 aldehyde dehydrogenase 2 family (mitochondrial)
CCDC102B coiled-coil domain containing 102B
CCND3 cyclin D3
CHAF1A chromatin assembly factor 1, subunit A (p150)
CTNNA3 catenin (cadherin-associated protein), alpha 3
DENND4A DENN/MADD domain containing 4A
DUSP27 dual specificity phosphatase 27 (putative)
FIG4 FIG4 phosphoinositide 5-phosphatase
FNBP1L formin binding protein 1-like
FNTB farnesyltransferase, CAAX box, beta
GALNT13 polypeptide N-acetylgalactosaminyltransferase 13
GALNTL6 polypeptide N-acetylgalactosaminyltransferase-like 6
GCDH glutaryl-CoA dehydrogenase
HFE hemochromatosis
HHAT hedgehog acyltransferase
HK1 hexokinase 1
HNF1B HNF1 homeobox B
IKZF1 IKAROS family zinc finger 1 (Ikaros)
ITFG3 integrin alpha FG-GAP repeat containing 3
ITGBL1 integrin, beta-like 1 (with EGF-like repeat domains)
KCMF1 potassium channel modulatory factor 1
KCNH8 potassium channel, voltage gated eag related subfamily H, member 8
KCNJ6 potassium channel, inwardly rectifying subfamily J, member 6
MARCH8 membrane-associated ring finger (C3HC4) 8, E3 ubiquitin protein ligase
MAX MYC associated factor X
MEGF10 multiple EGF-like-domains 10
MID1 midline 1
NOVA1 neuro-oncological ventral antigen 1
NOX3 NADPH oxidase 3
NUDCD1 NudC domain containing 1
ODF1 outer dense fiber of sperm tails 1
ODF3B outer dense fiber of sperm tails 3B
OR9G1 olfactory receptor, family 9, subfamily G, member 1
PLXNC1 plexin C1
PRKAG2 protein kinase, AMP-activated, gamma 2 non-catalytic subunit
PRKCE protein kinase C, epsilon
PTPRQ protein tyrosine phosphatase, receptor type, Q
PUS7 pseudouridylate synthase 7 (putative)
RCL1 RNA terminal phosphate cyclase-like 1
ROBO2 roundabout, axon guidance receptor, homolog 2 (Drosophila)
SLC12A7 solute carrier family 12 (potassium/chloride transporter), member 7
SLC17A1 solute carrier family 17 (organic anion transporter), member 1
SLC25A37 solute carrier family 25 (mitochondrial iron transporter), member 37
SLC39A11 solute carrier family 39, member 11
SPTA1 spectrin, alpha, erythrocytic 1
SYNE1 spectrin repeat containing, nuclear envelope 1
TENM1 teneurin transmembrane protein 1
TFRC transferrin receptor
THRB thyroid hormone receptor, beta
TIMM23 translocase of inner mitochondrial membrane 23 homolog (yeast)
TMEM79 transmembrane protein 79
TMPRSS6 transmembrane protease, serine 6
TNRC6B trinucleotide repeat containing 6B
TYMP thymidine phosphorylase
UBE2L3 ubiquitin-conjugating enzyme E2L 3
WWTR1 WW domain containing transcription regulator 1
XPO7 exportin 7
ZFPM2 zinc finger protein, FOG family member 2
ZNF286B zinc finger protein 286B