LYST, lysosomal trafficking regulator, 1130

N. diseases: 114; N. variants: 18
Disease: Attenuated Chédiak-Higashi syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4304022
Disease: Attenuated Chédiak-Higashi syndrome
Attenuated Chédiak-Higashi syndrome 		0.300 GermlineCausalMutation disease ORPHANET Atypical Chédiak-Higashi syndrome with attenuated phenotype: three adult siblings homozygous for a novel LYST deletion and with neurodegenerative disease. 23521865 2013