abnormality of cells of the erythroid lineage Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description An anomaly of erythroid lineage cells, that is, of the erythropoietic cells in the lineage leading to and including erythrocytes. (Human Phenotype Ontology, HP_0012130)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0012130
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Genes

333 genes associated with the abnormality of cells of the erythroid lineage phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
AASS aminoadipate-semialdehyde synthase
ABCA1 ATP-binding cassette, sub-family A (ABC1), member 1
ABCB7 ATP-binding cassette, sub-family B (MDR/TAP), member 7
ABCD4 ATP-binding cassette, sub-family D (ALD), member 4
ABCG5 ATP-binding cassette, sub-family G (WHITE), member 5
ABCG8 ATP-binding cassette, sub-family G (WHITE), member 8
ACAD8 acyl-CoA dehydrogenase family, member 8
ACSL4 acyl-CoA synthetase long-chain family member 4
ACTN1 actinin, alpha 1
ACVR1 activin A receptor, type I
ACVRL1 activin A receptor type II-like 1
ADA adenosine deaminase
ADAMTS13 ADAM metallopeptidase with thrombospondin type 1 motif, 13
ADAR adenosine deaminase, RNA-specific
AGGF1 angiogenic factor with G patch and FHA domains 1
AIRE autoimmune regulator
AK1 adenylate kinase 1
AK2 adenylate kinase 2
AKT1 v-akt murine thymoma viral oncogene homolog 1
ALAD aminolevulinate dehydratase
ALAS2 5'-aminolevulinate synthase 2
ALDOA aldolase A, fructose-bisphosphate
ALPL alkaline phosphatase, liver/bone/kidney
AMMECR1 Alport syndrome, mental retardation, midface hypoplasia and elliptocytosis chromosomal region gene 1
AMN amnion associated transmembrane protein
ANK1 ankyrin 1, erythrocytic
ANKRD11 ankyrin repeat domain 11
APOA1 apolipoprotein A-I
APOB apolipoprotein B
ATP7B ATPase, Cu++ transporting, beta polypeptide
ATRX alpha thalassemia/mental retardation syndrome X-linked
BCL11A B-cell CLL/lymphoma 11A (zinc finger protein)
BMPR1A bone morphogenetic protein receptor, type IA
BPGM 2,3-bisphosphoglycerate mutase
BRCA2 breast cancer 2, early onset
BRIP1 BRCA1 interacting protein C-terminal helicase 1
BTK Bruton agammaglobulinemia tyrosine kinase
C15ORF41 chromosome 15 open reading frame 41
C1GALT1C1 C1GALT1-specific chaperone 1
CA2 carbonic anhydrase II
CASP10 caspase 10, apoptosis-related cysteine peptidase
CASR calcium-sensing receptor
CD151 CD151 molecule (Raph blood group)
CD19 CD19 molecule
CD3G CD3g molecule, gamma (CD3-TCR complex)
CD40LG CD40 ligand
CD59 CD59 molecule, complement regulatory protein
CD81 CD81 molecule
CDAN1 codanin 1
CECR1 cat eye syndrome chromosome region, candidate 1
CHD7 chromodomain helicase DNA binding protein 7
CISD2 CDGSH iron sulfur domain 2
CLCN7 chloride channel, voltage-sensitive 7
COA5 cytochrome c oxidase assembly factor 5
COL4A1 collagen, type IV, alpha 1
COL7A1 collagen, type VII, alpha 1
COQ2 coenzyme Q2 4-hydroxybenzoate polyprenyltransferase
COX10 COX10 heme A:farnesyltransferase cytochrome c oxidase assembly factor
COX14 COX14 cytochrome c oxidase assembly factor
COX20 COX20 cytochrome c oxidase assembly factor
COX4I2 cytochrome c oxidase subunit IV isoform 2 (lung)
COX6B1 cytochrome c oxidase subunit VIb polypeptide 1 (ubiquitous)
CP ceruloplasmin (ferroxidase)
CPOX coproporphyrinogen oxidase
CR2 complement component (3d/Epstein Barr virus) receptor 2
CTC1 CTS telomere maintenance complex component 1
CTSK cathepsin K
CUBN cubilin (intrinsic factor-cobalamin receptor)
CYB5A cytochrome b5 type A (microsomal)
CYB5R3 cytochrome b5 reductase 3
CYP4F22 cytochrome P450, family 4, subfamily F, polypeptide 22
DCLRE1C DNA cross-link repair 1C
DGKE diacylglycerol kinase, epsilon 64kDa
DHFR dihydrofolate reductase
DKC1 dyskeratosis congenita 1, dyskerin
DNAJC19 DnaJ (Hsp40) homolog, subfamily C, member 19
DNMT3B DNA (cytosine-5-)-methyltransferase 3 beta
DST dystonin
EGLN1 egl-9 family hypoxia-inducible factor 1
ELANE elastase, neutrophil expressed
ENG endoglin
EPAS1 endothelial PAS domain protein 1
EPB41 erythrocyte membrane protein band 4.1
EPB42 erythrocyte membrane protein band 4.2
EPCAM epithelial cell adhesion molecule
EPOR erythropoietin receptor
ERCC4 excision repair cross-complementation group 4
ERCC6L2 excision repair cross-complementation group 6-like 2
EWSR1 EWS RNA-binding protein 1
FAM111A family with sequence similarity 111, member A
FANCA Fanconi anemia, complementation group A
FANCB Fanconi anemia, complementation group B
FANCC Fanconi anemia, complementation group C
FANCD2 Fanconi anemia, complementation group D2
FANCE Fanconi anemia, complementation group E
FANCF Fanconi anemia, complementation group F
FANCG Fanconi anemia, complementation group G
FANCI Fanconi anemia, complementation group I
FANCL Fanconi anemia, complementation group L
FANCM Fanconi anemia, complementation group M
FARS2 phenylalanyl-tRNA synthetase 2, mitochondrial
FAS Fas cell surface death receptor
FASLG Fas ligand (TNF superfamily, member 6)
FASTKD2 FAST kinase domains 2
FECH ferrochelatase
FERMT1 fermitin family member 1
FERMT3 fermitin family member 3
FH fumarate hydratase
FMO3 flavin containing monooxygenase 3
FOXP3 forkhead box P3
FTCD formimidoyltransferase cyclodeaminase
G6PC3 glucose 6 phosphatase, catalytic, 3
G6PD glucose-6-phosphate dehydrogenase
GALT galactose-1-phosphate uridylyltransferase
GATA1 GATA binding protein 1 (globin transcription factor 1)
GBA glucosidase, beta, acid
GCLC glutamate-cysteine ligase, catalytic subunit
GCNT2 glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (I blood group)
GDF2 growth differentiation factor 2
GIF gastric intrinsic factor (vitamin B synthesis)
GLA galactosidase, alpha
GLRX5 glutaredoxin 5
GP1BA glycoprotein Ib (platelet), alpha polypeptide
GPI glucose-6-phosphate isomerase
GPX1 glutathione peroxidase 1
GSR glutathione reductase
GSS glutathione synthetase
HBA1 hemoglobin, alpha 1
HBA2 hemoglobin, alpha 2
HBB hemoglobin, beta
HBD hemoglobin, delta
HBG1 hemoglobin, gamma A
HBG2 hemoglobin, gamma G
HBZ hemoglobin, zeta
HK1 hexokinase 1
HLA-B major histocompatibility complex, class I, B
HMOX1 heme oxygenase 1
HOXA11 homeobox A11
HPGD hydroxyprostaglandin dehydrogenase 15-(NAD)
HPRT1 hypoxanthine phosphoribosyltransferase 1
ICOS inducible T-cell co-stimulator
IDH1 isocitrate dehydrogenase 1 (NADP+), soluble
IDH2 isocitrate dehydrogenase 2 (NADP+), mitochondrial
IFT140 intraflagellar transport 140
IGHV4-34 immunoglobulin heavy variable 4-34
IL12B interleukin 12B
IL2RG interleukin 2 receptor, gamma
IL7R interleukin 7 receptor
IRX5 iroquois homeobox 5
ISCU iron-sulfur cluster assembly enzyme
ITGA2B integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41)
ITGB3 integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)
ITGB4 integrin, beta 4
ITK IL2-inducible T-cell kinase
JAK2 Janus kinase 2
KCNE5 potassium channel, voltage gated subfamily E regulatory beta subunit 5
KIT v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog
KLF1 Kruppel-like factor 1 (erythroid)
KLLN killin, p53-regulated DNA replication inhibitor
KMT2D lysine (K)-specific methyltransferase 2D
KRAS Kirsten rat sarcoma viral oncogene homolog
KRT14 keratin 14, type I
LBR lamin B receptor
LCAT lecithin-cholesterol acyltransferase
LCRB locus control region, beta
LIG4 ligase IV, DNA, ATP-dependent
LIPA lipase A, lysosomal acid, cholesterol esterase
LMBRD1 LMBR1 domain containing 1
LPIN2 lipin 2
LRBA LPS-responsive vesicle trafficking, beach and anchor containing
LRRFIP2 leucine rich repeat (in FLII) interacting protein 2
LYRM7 LYR motif containing 7
LYST lysosomal trafficking regulator
MLH1 mutL homolog 1
MLH3 mutL homolog 3
MLX MLX, MAX dimerization protein
MMAA methylmalonic aciduria (cobalamin deficiency) cblA type
MMAB methylmalonic aciduria (cobalamin deficiency) cblB type
MMACHC methylmalonic aciduria (cobalamin deficiency) cblC type, with homocystinuria
MMADHC methylmalonic aciduria (cobalamin deficiency) cblD type, with homocystinuria
MMP1 matrix metallopeptidase 1
MPL MPL proto-oncogene, thrombopoietin receptor
MS4A1 membrane-spanning 4-domains, subfamily A, member 1
MSH2 mutS homolog 2
MSH6 mutS homolog 6
MTR 5-methyltetrahydrofolate-homocysteine methyltransferase
MTRR 5-methyltetrahydrofolate-homocysteine methyltransferase reductase
MTTP microsomal triglyceride transfer protein
MUC1 mucin 1, cell surface associated
MUT methylmalonyl CoA mutase
MVK mevalonate kinase
MYD88 myeloid differentiation primary response 88
NBN nibrin
NFKB2 nuclear factor of kappa light polypeptide gene enhancer in B-cells 2 (p49/p100)
NHEJ1 nonhomologous end-joining factor 1
NHP2 NHP2 ribonucleoprotein
NLRP3 NLR family, pyrin domain containing 3
NME1 NME/NM23 nucleoside diphosphate kinase 1
NOD2 nucleotide-binding oligomerization domain containing 2
NOP10 NOP10 ribonucleoprotein
NPHP1 nephronophthisis 1 (juvenile)
NPHP4 nephronophthisis 4
NSUN2 NOP2/Sun RNA methyltransferase family, member 2
NT5C3A 5'-nucleotidase, cytosolic IIIA
OCRL oculocerebrorenal syndrome of Lowe
PALB2 partner and localizer of BRCA2
PANK2 pantothenate kinase 2
PCCA propionyl CoA carboxylase, alpha polypeptide
PCCB propionyl CoA carboxylase, beta polypeptide
PCNT pericentrin
PDGFRA platelet-derived growth factor receptor, alpha polypeptide
PEPD peptidase D
PET100 PET100 homolog (S. cerevisiae)
PFKM phosphofructokinase, muscle
PGK1 phosphoglycerate kinase 1
PGM3 phosphoglucomutase 3
PHGDH phosphoglycerate dehydrogenase
PIEZO1 piezo-type mechanosensitive ion channel component 1
PIGT phosphatidylinositol glycan anchor biosynthesis, class T
PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha
PKLR pyruvate kinase, liver and RBC
PLEC plectin
PMS1 PMS1 postmeiotic segregation increased 1 (S. cerevisiae)
PMS2 PMS2 postmeiotic segregation increased 2 (S. cerevisiae)
PNP purine nucleoside phosphorylase
PNPO pyridoxamine 5'-phosphate oxidase
PRF1 perforin 1 (pore forming protein)
PRKAR1A protein kinase, cAMP-dependent, regulatory, type I, alpha
PRKCD protein kinase C, delta
PSAP prosaposin
PSMB8 proteasome (prosome, macropain) subunit, beta type, 8
PTEN phosphatase and tensin homolog
PTH1R parathyroid hormone 1 receptor
PUS1 pseudouridylate synthase 1
RAD51C RAD51 paralog C
RAG1 recombination activating gene 1
RAG2 recombination activating gene 2
RBM8A RNA binding motif protein 8A
RECQL4 RecQ protein-like 4
REN renin
RHAG Rh-associated glycoprotein
RMRP RNA component of mitochondrial RNA processing endoribonuclease
RPL11 ribosomal protein L11
RPL15 ribosomal protein L15
RPL26 ribosomal protein L26
RPL35A ribosomal protein L35a
RPL5 ribosomal protein L5
RPS10 ribosomal protein S10
RPS14 ribosomal protein S14
RPS17 ribosomal protein S17
RPS19 ribosomal protein S19
RPS24 ribosomal protein S24
RPS26 ribosomal protein S26
RPS29 ribosomal protein S29
RPS7 ribosomal protein S7
RTEL1 regulator of telomere elongation helicase 1
SARS2 seryl-tRNA synthetase 2, mitochondrial
SBDS Shwachman-Bodian-Diamond syndrome
SC5D sterol-C5-desaturase
SCARB2 scavenger receptor class B, member 2
SDHA succinate dehydrogenase complex, subunit A, flavoprotein (Fp)
SDHB succinate dehydrogenase complex, subunit B, iron sulfur (Ip)
SDHC succinate dehydrogenase complex, subunit C, integral membrane protein, 15kDa
SDHD succinate dehydrogenase complex, subunit D, integral membrane protein
SEC23B Sec23 homolog B (S. cerevisiae)
SFXN4 sideroflexin 4
SH2B3 SH2B adaptor protein 3
SH2D1A SH2 domain containing 1A
SLC11A2 solute carrier family 11 (proton-coupled divalent metal ion transporter), member 2
SLC19A2 solute carrier family 19 (thiamine transporter), member 2
SLC25A38 solute carrier family 25, member 38
SLC2A1 solute carrier family 2 (facilitated glucose transporter), member 1
SLC30A10 solute carrier family 30, member 10
SLC46A1 solute carrier family 46 (folate transporter), member 1
SLC4A1 solute carrier family 4 (anion exchanger), member 1 (Diego blood group)
SLC4A4 solute carrier family 4 (sodium bicarbonate cotransporter), member 4
SLC7A7 solute carrier family 7 (amino acid transporter light chain, y+L system), member 7
SLCO2A1 solute carrier organic anion transporter family, member 2A1
SLX4 SLX4 structure-specific endonuclease subunit
SMAD4 SMAD family member 4
SMARCAL1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1
SMPD1 sphingomyelin phosphodiesterase 1, acid lysosomal
SNX10 sorting nexin 10
SPTA1 spectrin, alpha, erythrocytic 1
SPTB spectrin, beta, erythrocytic
SRD5A3 steroid 5 alpha-reductase 3
STEAP3 STEAP family member 3, metalloreductase
STIM1 stromal interaction molecule 1
STK11 serine/threonine kinase 11
STOM stomatin
STX11 syntaxin 11
TACO1 translational activator of mitochondrially encoded cytochrome c oxidase I
TBCE tubulin folding cofactor E
TBXAS1 thromboxane A synthase 1 (platelet)
TCIRG1 T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 subunit A3
TCN2 transcobalamin II
TERC telomerase RNA component
TERT telomerase reverse transcriptase
TF transferrin
TGFB1 transforming growth factor, beta 1
TGFBR2 transforming growth factor, beta receptor II (70/80kDa)
TINF2 TERF1 (TRF1)-interacting nuclear factor 2
TMEM173 transmembrane protein 173
TMEM67 transmembrane protein 67
TMPRSS6 transmembrane protease, serine 6
TNFRSF11A tumor necrosis factor receptor superfamily, member 11a, NFKB activator
TNFRSF13B tumor necrosis factor receptor superfamily, member 13B
TNFRSF13C tumor necrosis factor receptor superfamily, member 13C
TNFSF11 tumor necrosis factor (ligand) superfamily, member 11
TNFSF12 tumor necrosis factor (ligand) superfamily, member 12
TPI1 triosephosphate isomerase 1
TREX1 three prime repair exonuclease 1
UBR1 ubiquitin protein ligase E3 component n-recognin 1
UMPS uridine monophosphate synthetase
UNC13D unc-13 homolog D (C. elegans)
UROD uroporphyrinogen decarboxylase
UROS uroporphyrinogen III synthase
USB1 U6 snRNA biogenesis 1
VHL von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase
VIPAS39 VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog
VPS13A vacuolar protein sorting 13 homolog A (S. cerevisiae)
VPS33B vacuolar protein sorting 33 homolog B (yeast)
VPS45 vacuolar protein sorting 45 homolog (S. cerevisiae)
WAS Wiskott-Aldrich syndrome
WFS1 Wolfram syndrome 1 (wolframin)
WIPF1 WAS/WASL interacting protein family, member 1
WRAP53 WD repeat containing, antisense to TP53
WT1 Wilms tumor 1
XIAP X-linked inhibitor of apoptosis, E3 ubiquitin protein ligase
XK X-linked Kx blood group
YARS2 tyrosyl-tRNA synthetase 2, mitochondrial
ZBTB20 zinc finger and BTB domain containing 20
ZBTB24 zinc finger and BTB domain containing 24