POTEF, POTE ankyrin domain family member F, 728378

N. diseases: 215; N. variants: 2
Disease: Qualitative abnormality of granulocyte ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0272183
Disease: Qualitative abnormality of granulocyte
Qualitative abnormality of granulocyte 		0.010 GeneticVariation disease BEFREE A heterozygous mutation of beta-actin associated with neutrophil dysfunction and recurrent infection. 10411937 1999