Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 23395
Gene Symbol: LARS2
LARS2
0.600 GeneticVariation disease CLINVAR
Entrez Id: 23395
Gene Symbol: LARS2
LARS2
0.600 Biomarker disease GENOMICS_ENGLAND Human/mouse microcell hybrid based elimination test reduces the putative tumor suppressor region at 3p21.3 to 1.6 cM. 9408748 1997
Entrez Id: 23395
Gene Symbol: LARS2
LARS2
0.600 GeneticVariation disease UNIPROT Mutations in LARS2, encoding mitochondrial leucyl-tRNA synthetase, lead to premature ovarian failure and hearing loss in Perrault syndrome. 23541342 2013
Entrez Id: 23395
Gene Symbol: LARS2
LARS2
0.600 Biomarker disease GENOMICS_ENGLAND Mutations in LARS2, encoding mitochondrial leucyl-tRNA synthetase, lead to premature ovarian failure and hearing loss in Perrault syndrome. 23541342 2013
Entrez Id: 8192
Gene Symbol: CLPP
CLPP
0.200 Biomarker disease MGD Loss of mitochondrial peptidase Clpp leads to infertility, hearing loss plus growth retardation via accumulation of CLPX, mtDNA and inflammatory factors. 23851121 2013
Entrez Id: 23395
Gene Symbol: LARS2
LARS2
0.600 CausalMutation disease CLINVAR First independent replication of the involvement of LARS2 in Perrault syndrome by whole-exome sequencing of an Italian family. 26657938 2016
Entrez Id: 23395
Gene Symbol: LARS2
LARS2
0.600 Biomarker disease GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308 2016