SYP, synaptophysin, 6855

N. diseases: 243; N. variants: 3
Disease: Kearns-Sayre syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0022541
Disease: Kearns-Sayre syndrome
Kearns-Sayre syndrome 		0.010 Biomarker disease BEFREE To gain further insight into the pathogenesis of cerebellar dysfunction in KSS, antibodies against synaptophysin (SY) were used to identify presynaptic terminals and antibodies to calbindin D (CB) to identify Purkinje cells in the cerebellar cortex and in the dentate nucleus from two autopsied cases of KSS. 10465502 1999