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 		0.310 GermlineCausalMutation disease ORPHANET To report the RRM2B mutation frequency in adults with multiple mtDNA deletions and examine RNR assembly in a patient with Kearns-Sayre syndrome (KSS) caused by two novel RRM2B mutations. 21378381 2011
CUI: C0022541
Disease: Kearns-Sayre syndrome
Kearns-Sayre syndrome 		0.310 GeneticVariation disease BEFREE To report the RRM2B mutation frequency in adults with multiple mtDNA deletions and examine RNR assembly in a patient with Kearns-Sayre syndrome (KSS) caused by two novel RRM2B mutations. 21378381 2011