abnormality of chromosome stability Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description A type of chromosomal aberration characterized by an increased susceptibility to chromosomal breakage induced by treatment of cultured lymphocytes with agents such as chemical mutagens, irradiation, and alkylating agents. (Human Phenotype Ontology, HP_0003220)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0003220
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Genes

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

Symbol Name
ATM ATM serine/threonine kinase
BLM Bloom syndrome, RecQ helicase-like
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
FMR1 fragile X mental retardation 1
LIG4 ligase IV, DNA, ATP-dependent
NBN nibrin
PALB2 partner and localizer of BRCA2
POLA1 polymerase (DNA directed), alpha 1, catalytic subunit
RAD50 RAD50 homolog (S. cerevisiae)
RAD51C RAD51 paralog C
RMRP RNA component of mitochondrial RNA processing endoribonuclease
SLX4 SLX4 structure-specific endonuclease subunit
TCN2 transcobalamin II
Funding