recurrent abscess formation Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description An increased susceptibility to abscess formation, as manifested by a medical history of recurrent abscesses. (Human Phenotype Ontology, HP_0002722)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0002722
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Genes

17 genes associated with the recurrent abscess formation phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
BTK Bruton agammaglobulinemia tyrosine kinase
CTSC cathepsin C
CYBA cytochrome b-245, alpha polypeptide
CYBB cytochrome b-245, beta polypeptide
FCN3 ficolin (collagen/fibrinogen domain containing) 3
IL10RA interleukin 10 receptor, alpha
IL10RB interleukin 10 receptor, beta
ITGB2 integrin, beta 2 (complement component 3 receptor 3 and 4 subunit)
LYST lysosomal trafficking regulator
MNX1 motor neuron and pancreas homeobox 1
NCF1 neutrophil cytosolic factor 1
NCF2 neutrophil cytosolic factor 2
NCF4 neutrophil cytosolic factor 4, 40kDa
PSEN1 presenilin 1
PSENEN presenilin enhancer gamma secretase subunit
PSTPIP1 proline-serine-threonine phosphatase interacting protein 1
VANGL1 VANGL planar cell polarity protein 1
Funding