Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
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
PERRAULT SYNDROME 4
CUI: C3809105
Disease: PERRAULT SYNDROME 4
0.800 CausalMutation CLINVAR