Disease: Skin Diseases, Genetic ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0037277
Disease: Skin Diseases, Genetic
Skin Diseases, Genetic 		0.030 GeneticVariation group BEFREE Poikiloderma with Neutropenia (PN) is inherited genodermatosis which results from a biallelic mutation in the USB1 gene (U Six Biogenesis 1). 28353165 2017
CUI: C0037277
Disease: Skin Diseases, Genetic
Skin Diseases, Genetic 		0.030 GeneticVariation group BEFREE Germline mutations of the U6 biogenesis 1 (USB1) gene underlie Poikiloderma with Neutropenia (PN), a rare autosomal recessive genodermatosis conferring an increased risk of myelodysplasia. 26306619 2015
CUI: C0037277
Disease: Skin Diseases, Genetic
Skin Diseases, Genetic 		0.030 GeneticVariation group BEFREE Clericuzio-type poikiloderma with neutropenia (PN) is a rare genodermatosis associated with mutations in the C16orf57 gene, which codes for the uncharacterized protein hMpn1. 23022480 2012