Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
HYDROPS, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA
CUI: C4310761
Disease: HYDROPS, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA
0.800 GeneticVariation UNIPROT LARS2 Variants Associated with Hydrops, Lactic Acidosis, Sideroblastic Anemia, and Multisystem Failure. 26537577 2016
PERRAULT SYNDROME 4
CUI: C3809105
Disease: PERRAULT SYNDROME 4
0.800 GeneticVariation UNIPROT Mutations in LARS2, encoding mitochondrial leucyl-tRNA synthetase, lead to premature ovarian failure and hearing loss in Perrault syndrome. 23541342 2013
HYDROPS, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA
CUI: C4310761
Disease: HYDROPS, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA
0.800 CausalMutation CLINVAR
PERRAULT SYNDROME 4
CUI: C3809105
Disease: PERRAULT SYNDROME 4
0.800 CausalMutation CLINVAR
Gonadal dysgenesis XX type deafness
CUI: C0685838
Disease: Gonadal dysgenesis XX type deafness
0.710 GeneticVariation BEFREE A family was homozygous for mitochondrial leucyl aminocyl tRNA synthetase (mtLeuRS) (LARS2) p.(Thr522Asn), previously associated with Perrault syndrome. 26970254 2017
Gonadal dysgenesis XX type deafness
CUI: C0685838
Disease: Gonadal dysgenesis XX type deafness
0.710 CausalMutation CLINVAR