Bone Marrow Failure Syndromes Gene Set

Dataset DisGeNET Gene-Disease Associations
Category disease or phenotype associations
Type disease
External Link https://www.disgenet.org/browser/0/1/0/C2931245
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Genes

40 genes associated with the disease Bone Marrow Failure Syndromes in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Symbol Name
ASXL1 additional sex combs like transcriptional regulator 1
CCL2 chemokine (C-C motif) ligand 2
CCL20 chemokine (C-C motif) ligand 20
CCR2 chemokine (C-C motif) receptor 2
CCR6 chemokine (C-C motif) receptor 6
CSF2 colony stimulating factor 2 (granulocyte-macrophage)
CSF3 colony stimulating factor 3 (granulocyte)
CTC1 CTS telomere maintenance complex component 1
CXCL10 chemokine (C-X-C motif) ligand 10
CXCR3 chemokine (C-X-C motif) receptor 3
DKC1 dyskeratosis congenita 1, dyskerin
DNAJC21 DnaJ (Hsp40) homolog, subfamily C, member 21
ELANE elastase, neutrophil expressed
ERCC6L2 excision repair cross-complementation group 6-like 2
FANCD2 Fanconi anemia, complementation group D2
GATA2 GATA binding protein 2
GEM GTP binding protein overexpressed in skeletal muscle
HP haptoglobin
IFNG interferon, gamma
KIR2DS1 killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 1
KIR3DL1 killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1
KIR3DL2 killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 2
KLRC4-KLRK1 KLRC4-KLRK1 readthrough
KLRK1 killer cell lectin-like receptor subfamily K, member 1
MPL MPL proto-oncogene, thrombopoietin receptor
PAFAH1B1 platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa)
PIGA phosphatidylinositol glycan anchor biosynthesis, class A
PRDM8 PR domain containing 8
RPS19 ribosomal protein S19
RPS28 ribosomal protein S28
S100A8 S100 calcium binding protein A8
SF3B1 splicing factor 3b, subunit 1, 155kDa
SHQ1 SHQ1, H/ACA ribonucleoprotein assembly factor
SRP72 signal recognition particle 72kDa
TERT telomerase reverse transcriptase
TET2 tet methylcytosine dioxygenase 2
TINF2 TERF1 (TRF1)-interacting nuclear factor 2
TP53 tumor protein p53
WT1 Wilms tumor 1
YWHAE tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon