myelodysplasia Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0002863
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Genes

46 genes associated with the myelodysplasia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
ASXL1 additional sex combs like transcriptional regulator 1
ATRX alpha thalassemia/mental retardation syndrome X-linked
BRAF B-Raf proto-oncogene, serine/threonine kinase
BRCA2 breast cancer 2, early onset
BRIP1 BRCA1 interacting protein C-terminal helicase 1
BUB1 BUB1 mitotic checkpoint serine/threonine kinase
BUB1B BUB1 mitotic checkpoint serine/threonine kinase B
BUB3 BUB3 mitotic checkpoint protein
CALR calreticulin
CEP57 centrosomal protein 57kDa
CSF3R colony stimulating factor 3 receptor (granulocyte)
DKC1 dyskeratosis congenita 1, dyskerin
ERCC4 excision repair cross-complementation group 4
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
GATA2 GATA binding protein 2
GFI1B growth factor independent 1B transcription repressor
HAX1 HCLS1 associated protein X-1
JAK2 Janus kinase 2
MPL MPL proto-oncogene, thrombopoietin receptor
NBEAL2 neurobeachin-like 2
PALB2 partner and localizer of BRCA2
PTPN11 protein tyrosine phosphatase, non-receptor type 11
RAD51C RAD51 paralog C
RAF1 Raf-1 proto-oncogene, serine/threonine kinase
RECQL4 RecQ protein-like 4
RPS14 ribosomal protein S14
RPS19 ribosomal protein S19
RUNX1 runt-related transcription factor 1
SBDS Shwachman-Bodian-Diamond syndrome
SF3B1 splicing factor 3b, subunit 1, 155kDa
SH2B3 SH2B adaptor protein 3
SLX4 SLX4 structure-specific endonuclease subunit
SRP72 signal recognition particle 72kDa
TERC telomerase RNA component
TET2 tet methylcytosine dioxygenase 2
THPO thrombopoietin
TP53 tumor protein p53