YARS2, tyrosyl-tRNA synthetase 2, 51067

N. diseases: 55; N. variants: 19
Disease: Abnormality of the endocrine system ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs863223953
rs863223953
Entrez Id: 10059;51067
Gene Symbol: DNM1L;YARS2
DNM1L;YARS2
CUI: C4025823
Disease:
Abnormality of the endocrine system 		T 0.700 CausalMutation CLINVAR A novel de novo dominant negative mutation in DNM1L impairs mitochondrial fission and presents as childhood epileptic encephalopathy. 27145208 2016
dbSNP: rs863223953
rs863223953
Entrez Id: 10059;51067
Gene Symbol: DNM1L;YARS2
DNM1L;YARS2
CUI: C4025823
Disease:
Abnormality of the endocrine system 		T 0.700 CausalMutation CLINVAR DNM1L-related mitochondrial fission defect presenting as refractory epilepsy. 26604000 2016