Pyridoxine-Responsive Sideroblastic Anemia Gene Set

Dataset DisGeNET Gene-Disease Associations
Category disease or phenotype associations
Type disease
Description OMIM mapping confirmed by DO. [LS]. (Human Disease Ontology, DOID_0060066)
External Link https://www.disgenet.org/browser/0/1/0/C0272027
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Genes

24 genes associated with the disease Pyridoxine-Responsive Sideroblastic Anemia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Symbol Name
ALAS2 5'-aminolevulinate synthase 2
BRCA1 breast cancer 1, early onset
BRCA2 breast cancer 2, early onset
BRIP1 BRCA1 interacting protein C-terminal helicase 1
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
MAD2L2 MAD2 mitotic arrest deficient-like 2 (yeast)
PALB2 partner and localizer of BRCA2
PNPO pyridoxamine 5'-phosphate oxidase
RAD51 RAD51 recombinase
RAD51C RAD51 paralog C
RFWD3 ring finger and WD repeat domain 3
SLX4 SLX4 structure-specific endonuclease subunit
UBE2T ubiquitin-conjugating enzyme E2T
XRCC2 X-ray repair complementing defective repair in Chinese hamster cells 2