abnormality of the spleen Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description An abnormality of the spleen. (Human Phenotype Ontology, HP_0001743)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0001743
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Genes

300 genes associated with the abnormality of the spleen phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
A2ML1 alpha-2-macroglobulin-like 1
ABCA1 ATP-binding cassette, sub-family A (ABC1), member 1
ABCB11 ATP-binding cassette, sub-family B (MDR/TAP), member 11
ABCB4 ATP-binding cassette, sub-family B (MDR/TAP), member 4
ABCD3 ATP-binding cassette, sub-family D (ALD), member 3
ABCG5 ATP-binding cassette, sub-family G (WHITE), member 5
ABCG8 ATP-binding cassette, sub-family G (WHITE), member 8
ACVR2B activin A receptor, type IIB
ADA adenosine deaminase
AGA aspartylglucosaminidase
AGPAT2 1-acylglycerol-3-phosphate O-acyltransferase 2
AIRE autoimmune regulator
AKR1D1 aldo-keto reductase family 1, member D1
AKT1 v-akt murine thymoma viral oncogene homolog 1
ALAS2 5'-aminolevulinate synthase 2
ALDOA aldolase A, fructose-bisphosphate
ALG1 ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase
ALMS1 Alstrom syndrome protein 1
ANK1 ankyrin 1, erythrocytic
AP3B1 adaptor-related protein complex 3, beta 1 subunit
APOA1 apolipoprotein A-I
APOC2 apolipoprotein C-II
APOE apolipoprotein E
ARSB arylsulfatase B
ARVCF armadillo repeat gene deleted in velocardiofacial syndrome
ASAH1 N-acylsphingosine amidohydrolase (acid ceramidase) 1
ATM ATM serine/threonine kinase
ATP8B1 ATPase, aminophospholipid transporter, class I, type 8B, member 1
ATRX alpha thalassemia/mental retardation syndrome X-linked
B9D1 B9 protein domain 1
B9D2 B9 protein domain 2
BCL11A B-cell CLL/lymphoma 11A (zinc finger protein)
BCL2 B-cell CLL/lymphoma 2
BCL6 B-cell CLL/lymphoma 6
BPGM 2,3-bisphosphoglycerate mutase
BRAF B-Raf proto-oncogene, serine/threonine kinase
BSCL2 Berardinelli-Seip congenital lipodystrophy 2 (seipin)
BTD biotinidase
C15ORF41 chromosome 15 open reading frame 41
C4A complement component 4A (Rodgers blood group)
CA2 carbonic anhydrase II
CALR calreticulin
CARD11 caspase recruitment domain family, member 11
CASP10 caspase 10, apoptosis-related cysteine peptidase
CASP8 caspase 8, apoptosis-related cysteine peptidase
CASR calcium-sensing receptor
CAV1 caveolin 1, caveolae protein, 22kDa
CC2D2A coiled-coil and C2 domain containing 2A
CCBE1 collagen and calcium binding EGF domains 1
CCDC39 coiled-coil domain containing 39
CCND1 cyclin D1
CD19 CD19 molecule
CD27 CD27 molecule
CD40LG CD40 ligand
CD81 CD81 molecule
CDAN1 codanin 1
CECR1 cat eye syndrome chromosome region, candidate 1
CEP290 centrosomal protein 290kDa
CHD7 chromodomain helicase DNA binding protein 7
CLCN7 chloride channel, voltage-sensitive 7
CLDN1 claudin 1
COG4 component of oligomeric golgi complex 4
COMT catechol-O-methyltransferase
COX4I2 cytochrome c oxidase subunit IV isoform 2 (lung)
CPOX coproporphyrinogen oxidase
CR2 complement component (3d/Epstein Barr virus) receptor 2
CSF3R colony stimulating factor 3 receptor (granulocyte)
CTC1 CTS telomere maintenance complex component 1
CTNS cystinosin, lysosomal cystine transporter
CTSA cathepsin A
CTSK cathepsin K
CYBA cytochrome b-245, alpha polypeptide
CYBB cytochrome b-245, beta polypeptide
CYP7B1 cytochrome P450, family 7, subfamily B, polypeptide 1
DCLRE1C DNA cross-link repair 1C
DGUOK deoxyguanosine kinase
DHCR24 24-dehydrocholesterol reductase
DHCR7 7-dehydrocholesterol reductase
DKC1 dyskeratosis congenita 1, dyskerin
DNAI1 dynein, axonemal, intermediate chain 1
DNASE1L3 deoxyribonuclease I-like 3
DOLK dolichol kinase
DPM1 dolichyl-phosphate mannosyltransferase polypeptide 1, catalytic subunit
ERCC6 excision repair cross-complementation group 6
ERCC8 excision repair cross-complementation group 8
ESCO2 establishment of sister chromatid cohesion N-acetyltransferase 2
F5 coagulation factor V (proaccelerin, labile factor)
FAH fumarylacetoacetate hydrolase (fumarylacetoacetase)
FAM111A family with sequence similarity 111, member A
FAS Fas cell surface death receptor
FASLG Fas ligand (TNF superfamily, member 6)
FAT4 FAT atypical cadherin 4
FERMT3 fermitin family member 3
FGA fibrinogen alpha chain
FGB fibrinogen beta chain
FGFR2 fibroblast growth factor receptor 2
FGG fibrinogen gamma chain
FMO3 flavin containing monooxygenase 3
FOXF1 forkhead box F1
FUCA1 fucosidase, alpha-L- 1, tissue
G6PC3 glucose 6 phosphatase, catalytic, 3
GAA glucosidase, alpha; acid
GABRD gamma-aminobutyric acid (GABA) A receptor, delta
GALE UDP-galactose-4-epimerase
GATA1 GATA binding protein 1 (globin transcription factor 1)
GATA2 GATA binding protein 2
GBA glucosidase, beta, acid
GBE1 glucan (1,4-alpha-), branching enzyme 1
GDF1 growth differentiation factor 1
GFI1B growth factor independent 1B transcription repressor
GLB1 galactosidase, beta 1
GNE glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase
GNPTAB N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits
GNS glucosamine (N-acetyl)-6-sulfatase
GP1BA glycoprotein Ib (platelet), alpha polypeptide
GP1BB glycoprotein Ib (platelet), beta polypeptide
GPC3 glypican 3
GPC4 glypican 4
GPD1 glycerol-3-phosphate dehydrogenase 1 (soluble)
GPI glucose-6-phosphate isomerase
GUSB glucuronidase, beta
HBA1 hemoglobin, alpha 1
HBA2 hemoglobin, alpha 2
HBB hemoglobin, beta
HBG1 hemoglobin, gamma A
HBG2 hemoglobin, gamma G
HEXB hexosaminidase B (beta polypeptide)
HFE hemochromatosis
HGSNAT heparan-alpha-glucosaminide N-acetyltransferase
HIRA histone cell cycle regulator
HK1 hexokinase 1
HLA-B major histocompatibility complex, class I, B
HLA-DRB1 major histocompatibility complex, class II, DR beta 1
HMGA2 high mobility group AT-hook 2
HPGD hydroxyprostaglandin dehydrogenase 15-(NAD)
HSD3B7 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7
HYLS1 hydrolethalus syndrome 1
ICOS inducible T-cell co-stimulator
IDS iduronate 2-sulfatase
IDUA iduronidase, alpha-L-
IFIH1 interferon induced with helicase C domain 1
IFT172 intraflagellar transport 172
IGHV4-34 immunoglobulin heavy variable 4-34
IL10 interleukin 10
IL12RB2 interleukin 12 receptor, beta 2
IL1RN interleukin 1 receptor antagonist
IL23R interleukin 23 receptor
IL2RA interleukin 2 receptor, alpha
IL2RG interleukin 2 receptor, gamma
IL6 interleukin 6
IL7R interleukin 7 receptor
INPP5E inositol polyphosphate-5-phosphatase, 72 kDa
INPPL1 inositol polyphosphate phosphatase-like 1
ITCH itchy E3 ubiquitin protein ligase
ITK IL2-inducible T-cell kinase
JAK2 Janus kinase 2
KAT6B K(lysine) acetyltransferase 6B
KCNAB2 potassium channel, voltage gated subfamily A regulatory beta subunit 2
KLF1 Kruppel-like factor 1 (erythroid)
KRAS Kirsten rat sarcoma viral oncogene homolog
LBR lamin B receptor
LCAT lecithin-cholesterol acyltransferase
LEMD3 LEM domain containing 3
LIG4 ligase IV, DNA, ATP-dependent
LIPA lipase A, lysosomal acid, cholesterol esterase
LMNA lamin A/C
LPIN2 lipin 2
LPL lipoprotein lipase
LRBA LPS-responsive vesicle trafficking, beach and anchor containing
LYST lysosomal trafficking regulator
LYZ lysozyme
MAN2B1 mannosidase, alpha, class 2B, member 1
MCM4 minichromosome maintenance complex component 4
MEFV Mediterranean fever
MIF macrophage migration inhibitory factor (glycosylation-inhibiting factor)
MKS1 Meckel syndrome, type 1
MPL MPL proto-oncogene, thrombopoietin receptor
MS4A1 membrane-spanning 4-domains, subfamily A, member 1
MUT methylmalonyl CoA mutase
MVK mevalonate kinase
MYCN v-myc avian myelocytomatosis viral oncogene neuroblastoma derived homolog
MYD88 myeloid differentiation primary response 88
NAGLU N-acetylglucosaminidase, alpha
NBEAL2 neurobeachin-like 2
NCF1 neutrophil cytosolic factor 1
NCF2 neutrophil cytosolic factor 2
NCF4 neutrophil cytosolic factor 4, 40kDa
NEK8 NIMA-related kinase 8
NEU1 sialidase 1 (lysosomal sialidase)
NFKB2 nuclear factor of kappa light polypeptide gene enhancer in B-cells 2 (p49/p100)
NHP2 NHP2 ribonucleoprotein
NLRP3 NLR family, pyrin domain containing 3
NOD2 nucleotide-binding oligomerization domain containing 2
NOP10 NOP10 ribonucleoprotein
NOTCH1 notch 1
NOTCH2 notch 2
NPC1 Niemann-Pick disease, type C1
NPC2 Niemann-Pick disease, type C2
NPHP3 nephronophthisis 3 (adolescent)
NRAS neuroblastoma RAS viral (v-ras) oncogene homolog
OCLN occludin
OTC ornithine carbamoyltransferase
PDGFRA platelet-derived growth factor receptor, alpha polypeptide
PEPD peptidase D
PEX2 peroxisomal biogenesis factor 2
PEX7 peroxisomal biogenesis factor 7
PHKG2 phosphorylase kinase, gamma 2 (testis)
PHYH phytanoyl-CoA 2-hydroxylase
PIEZO1 piezo-type mechanosensitive ion channel component 1
PIGM phosphatidylinositol glycan anchor biosynthesis, class M
PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha
PIK3CD phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta
PKHD1 polycystic kidney and hepatic disease 1 (autosomal recessive)
PKLR pyruvate kinase, liver and RBC
PNP purine nucleoside phosphorylase
PRDM16 PR domain containing 16
PRF1 perforin 1 (pore forming protein)
PRKCD protein kinase C, delta
PSAP prosaposin
PSMB8 proteasome (prosome, macropain) subunit, beta type, 8
PTEN phosphatase and tensin homolog
PTPN11 protein tyrosine phosphatase, non-receptor type 11
PTPRC protein tyrosine phosphatase, receptor type, C
PTRF polymerase I and transcript release factor
RAB23 RAB23, member RAS oncogene family
RAB27A RAB27A, member RAS oncogene family
RAF1 Raf-1 proto-oncogene, serine/threonine kinase
RAG1 recombination activating gene 1
RAG2 recombination activating gene 2
RARB retinoic acid receptor, beta
RBM8A RNA binding motif protein 8A
RIT1 Ras-like without CAAX 1
RMRP RNA component of mitochondrial RNA processing endoribonuclease
RNASEH2A ribonuclease H2, subunit A
RNASEH2C ribonuclease H2, subunit C
RPGRIP1 retinitis pigmentosa GTPase regulator interacting protein 1
RPGRIP1L RPGRIP1-like
RPSA ribosomal protein SA
RTEL1 regulator of telomere elongation helicase 1
SC5D sterol-C5-desaturase
SCARB2 scavenger receptor class B, member 2
SEC23B Sec23 homolog B (S. cerevisiae)
SGSH N-sulfoglucosamine sulfohydrolase
SH2B3 SH2B adaptor protein 3
SH2D1A SH2 domain containing 1A
SKI SKI proto-oncogene
SLC17A5 solute carrier family 17 (acidic sugar transporter), member 5
SLC29A3 solute carrier family 29 (equilibrative nucleoside transporter), member 3
SLC39A4 solute carrier family 39 (zinc transporter), member 4
SLC4A1 solute carrier family 4 (anion exchanger), member 1 (Diego blood group)
SLC7A7 solute carrier family 7 (amino acid transporter light chain, y+L system), member 7
SLCO2A1 solute carrier organic anion transporter family, member 2A1
SMPD1 sphingomyelin phosphodiesterase 1, acid lysosomal
SNX10 sorting nexin 10
SOS1 son of sevenless homolog 1 (Drosophila)
SOX10 SRY (sex determining region Y)-box 10
STAT4 signal transducer and activator of transcription 4
STEAP3 STEAP family member 3, metalloreductase
STIM1 stromal interaction molecule 1
STRA6 stimulated by retinoic acid 6
STX11 syntaxin 11
STXBP2 syntaxin binding protein 2
SUMF1 sulfatase modifying factor 1
TALDO1 transaldolase 1
TBX1 T-box 1
TBXAS1 thromboxane A synthase 1 (platelet)
TCIRG1 T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 subunit A3
TCTN2 tectonic family member 2
TERC telomerase RNA component
TERT telomerase reverse transcriptase
TET2 tet methylcytosine dioxygenase 2
TGFB1 transforming growth factor, beta 1
THPO thrombopoietin
TINF2 TERF1 (TRF1)-interacting nuclear factor 2
TLR4 toll-like receptor 4
TMEM216 transmembrane protein 216
TMEM231 transmembrane protein 231
TMEM67 transmembrane protein 67
TNFRSF13B tumor necrosis factor receptor superfamily, member 13B
TNFRSF13C tumor necrosis factor receptor superfamily, member 13C
TNFRSF1A tumor necrosis factor receptor superfamily, member 1A
TNFSF11 tumor necrosis factor (ligand) superfamily, member 11
TNFSF12 tumor necrosis factor (ligand) superfamily, member 12
TP53 tumor protein p53
TPI1 triosephosphate isomerase 1
TREX1 three prime repair exonuclease 1
UFD1L ubiquitin fusion degradation 1 like (yeast)
UMPS uridine monophosphate synthetase
UNC13D unc-13 homolog D (C. elegans)
UROS uroporphyrinogen III synthase
USB1 U6 snRNA biogenesis 1
VPS13A vacuolar protein sorting 13 homolog A (S. cerevisiae)
VPS45 vacuolar protein sorting 45 homolog (S. cerevisiae)
WDPCP WD repeat containing planar cell polarity effector
WNT3 wingless-type MMTV integration site family, member 3
WRAP53 WD repeat containing, antisense to TP53
WT1 Wilms tumor 1
XIAP X-linked inhibitor of apoptosis, E3 ubiquitin protein ligase
ZAP70 zeta-chain (TCR) associated protein kinase 70kDa
ZIC3 Zic family member 3