LYST, lysosomal trafficking regulator, 1130

N. diseases: 114; N. variants: 18
Disease: Albinism ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0001916
Disease: Albinism
Albinism 		0.300 Biomarker disease GENOMICS_ENGLAND [Clinical aspects of hereditary spastic paraplegias]. 25519961 2014
CUI: C0001916
Disease: Albinism
Albinism 		0.300 Biomarker disease GENOMICS_ENGLAND Chediak-Higashi syndrome presenting as young-onset levodopa-responsive parkinsonism. 23436631 2013
CUI: C0001916
Disease: Albinism
Albinism 		0.300 Biomarker disease GENOMICS_ENGLAND Apparent genotype-phenotype correlation in childhood, adolescent, and adult Chediak-Higashi syndrome. 11857544 2002