IARS2, isoleucyl-tRNA synthetase 2, mitochondrial, 55699
N. diseases: 95; N. variants: 3
Source: ALL
| Disease | Score gda | Association Type | Type | Original DB | Sentence supporting the association | PMID | PMID Year |
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0.730 | Biomarker | disease | BEFREE | These phenotypes range from Leigh and West syndrome to a new syndrome abbreviated CAGSSS that is characterised by cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia, as well as cataract with no additional anomalies. | 30419932 | 2018 |
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0.730 | GeneticVariation | disease | BEFREE | IARS2 mutations are reported to cause Leigh syndrome or cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysphasia syndrome (CAGSSS). | 30041933 | 2018 |
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0.730 | Biomarker | disease | GENOMICS_ENGLAND | Here we report a case of two Japanese siblings with Leigh syndrome, some features of CAGSSS, and West syndrome that are found to have compound heterozygous novel IARS2 mutations. | 30041933 | 2018 |
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0.730 | Biomarker | disease | GENOMICS_ENGLAND | These phenotypes range from Leigh and West syndrome to a new syndrome abbreviated CAGSSS that is characterised by cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia, as well as cataract with no additional anomalies. | 30419932 | 2018 |
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0.730 | Biomarker | disease | GENOMICS_ENGLAND | Confirmation of CAGSSS syndrome as a distinct entity in a Danish patient with a novel homozygous mutation in IARS2. | 28328135 | 2017 |
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0.730 | GeneticVariation | disease | BEFREE | Confirmation of CAGSSS syndrome as a distinct entity in a Danish patient with a novel homozygous mutation in IARS2. | 28328135 | 2017 |
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0.730 | Biomarker | disease | GENOMICS_ENGLAND | Recessive Mutation in a Nuclear-Encoded Mitochondrial tRNA Synthetase Associated With Infantile Cataract, Congenital Neurotrophic Keratitis, and Orbital Myopathy. | 27078007 | 2016 |
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0.730 | Biomarker | disease | GENOMICS_ENGLAND | Mutation in the nuclear-encoded mitochondrial isoleucyl-tRNA synthetase IARS2 in patients with cataracts, growth hormone deficiency with short stature, partial sensorineural deafness, and peripheral neuropathy or with Leigh syndrome. | 25130867 | 2014 |
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0.730 | Biomarker | disease | GENOMICS_ENGLAND | Mutation in the nuclear-encoded mitochondrial isoleucyl-tRNA synthetase IARS2 in patients with cataracts, growth hormone deficiency with short stature, partial sensorineural deafness, and peripheral neuropathy or with Leigh syndrome. | 25130867 | 2014 |
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0.730 | GermlineCausalMutation | disease | ORPHANET | Mutation in the nuclear-encoded mitochondrial isoleucyl-tRNA synthetase IARS2 in patients with cataracts, growth hormone deficiency with short stature, partial sensorineural deafness, and peripheral neuropathy or with Leigh syndrome. | 25130867 | 2014 |
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0.730 | GeneticVariation | disease | UNIPROT | Mutation in the nuclear-encoded mitochondrial isoleucyl-tRNA synthetase IARS2 in patients with cataracts, growth hormone deficiency with short stature, partial sensorineural deafness, and peripheral neuropathy or with Leigh syndrome. | 25130867 | 2014 |
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0.730 | Biomarker | disease | CTD_human | |||
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0.730 | CausalMutation | disease | CLINVAR |