TRNS1, tRNA, 4574

N. diseases: 186; N. variants: 7
Disease: Ptosis ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0033377
Disease: Ptosis
Ptosis 		0.110 Biomarker disease BEFREE An A to G transition at position 7495 (MT-TS1 (MT-tRNSer(UCN))) was identified at 83% heteroplasmy in the muscle of a four year old female with ptosis, hypotonia, seizures, and dilated cardiomyopathy (Case 1). 27693765 2016
CUI: C0033377
Disease: Ptosis
Ptosis 		0.110 Biomarker disease HPO