CARS1, cysteinyl-tRNA synthetase 1, 833

N. diseases: 28; N. variants: 7
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0334121
Disease: Inflammatory Myofibroblastic Tumor
Inflammatory Myofibroblastic Tumor
0.310 FusionGene disease ORPHANET Identification of CARS-ALK fusion in primary and metastatic lesions of an inflammatory myofibroblastic tumor. 13679433 2003
CUI: C0334121
Disease: Inflammatory Myofibroblastic Tumor
Inflammatory Myofibroblastic Tumor
0.310 Biomarker disease BEFREE Identification of CARS-ALK fusion in primary and metastatic lesions of an inflammatory myofibroblastic tumor. 13679433 2003
CUI: C0334121
Disease: Inflammatory Myofibroblastic Tumor
Inflammatory Myofibroblastic Tumor
0.310 FusionGene disease ORPHANET Identification of novel fusion partners of ALK, the anaplastic lymphoma kinase, in anaplastic large-cell lymphoma and inflammatory myofibroblastic tumor. 12112524 2002
CUI: C0025958
Disease: Microcephaly
Microcephaly
0.300 Biomarker disease GENOMICS_ENGLAND Cysteinyl-tRNA Synthetase Mutations Cause a Multi-System, Recessive Disease That Includes Microcephaly, Developmental Delay, and Brittle Hair and Nails. 30824121 2019
CUI: C0263490
Disease: Brittle hair
Brittle hair
0.300 Biomarker disease GENOMICS_ENGLAND Compared to subjects with previously reported ARS-related diseases, individuals with bi-allelic CARS variants are unique in presenting with a brittle-hair-and-nail phenotype, which most likely reflects the high cysteine content in human keratins. 30824121 2019
CUI: C1856963
Disease: Fragile nails
Fragile nails
0.300 Biomarker phenotype GENOMICS_ENGLAND Cysteinyl-tRNA Synthetase Mutations Cause a Multi-System, Recessive Disease That Includes Microcephaly, Developmental Delay, and Brittle Hair and Nails. 30824121 2019
CUI: C4022738
Disease: Neurodevelopmental delay
Neurodevelopmental delay
0.300 Biomarker phenotype GENOMICS_ENGLAND Cysteinyl-tRNA Synthetase Mutations Cause a Multi-System, Recessive Disease That Includes Microcephaly, Developmental Delay, and Brittle Hair and Nails. 30824121 2019
CUI: C0001973
Disease: Alcoholic Intoxication, Chronic
Alcoholic Intoxication, Chronic
0.300 Biomarker disease PSYGENET Combining evidence from the case-control study, the follow-up in families, and gene expression provided strongest support for the association of a cluster of genes on chromosome 11 (SLC22A18, PHLDA2, NAP1L4, SNORA54, CARS, and OSBPL5) with alcohol dependence. 20201924 2010
CUI: C0005890
Disease: Body Height
Body Height
0.100 GeneticVariation phenotype GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
CUI: C0201925
Disease: Calcium measurement
Calcium measurement
0.100 GeneticVariation phenotype GWASDB Meta-analysis of genome-wide association studies identifies six new Loci for serum calcium concentrations. 24068962 2013
CUI: C0201925
Disease: Calcium measurement
Calcium measurement
0.100 GeneticVariation phenotype GWASCAT Meta-analysis of genome-wide association studies identifies six new Loci for serum calcium concentrations. 24068962 2013
CUI: C0428302
Disease: Calcium level result
Calcium level result
0.100 GeneticVariation phenotype GWASDB Meta-analysis of genome-wide association studies identifies six new Loci for serum calcium concentrations. 24068962 2013
CUI: C0023980
Disease: Longevity
Longevity
0.100 GeneticVariation phenotype GWASDB Joint influence of small-effect genetic variants on human longevity. 20834067 2010
CUI: C0023980
Disease: Longevity
Longevity
0.100 GeneticVariation phenotype GWASCAT Joint influence of small-effect genetic variants on human longevity. 20834067 2010
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders
0.050 Biomarker disease BEFREE After controlling for the course of regression, the CARS scores were significantly correlated with the regional efficiency of the right precuneus in the ASD-R group. 31562903 2020
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders
0.050 GeneticVariation disease BEFREE In the female ASD group(n = 15), CARS-TV Nonverbal communication subscale scores and RBS-R Compulsive subscale scores were seen to positively correlate with serum OXT concentrations. 30640053 2019
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders
0.050 Biomarker disease BEFREE The diagnosis and severity of ASD for participants (N=80) was performed by DSM-5, ADIR and CARS. 29216607 2018
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders
0.050 Biomarker disease BEFREE A total of 30 children were included.The distribution of the number of children with mild to moderate versus severe ASD was nearly equal based on CARS autism scores. 30031872 2018
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders
0.050 AlteredExpression disease BEFREE Even though the 5-HT level was not associated with severity of behavioral CARS score, a significant negative relationship was observed for 5-HT levels and level and consistency of intellectual response and general impression in ASD children. 25261775 2015
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder
0.040 GeneticVariation disease BEFREE Forty-one children with CdLS (23 females, 18 males) were classified as having "no autism" (n = 7; 17.1%), "mild autism" (n = 17; 41.4%), and "severe autism" (n = 17; 41.4%), using CARS scores. 24718998 2014
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder
0.040 Biomarker disease BEFREE The boys completed probes from the Test of Early Grammatical Impairment (TEGI; Rice & Wexler, 2001), a language sample, a nonverbal IQ test (Leiter-R; Roid & Miller, 1997), a receptive vocabulary test (the Pearson Picture Vocabulary Test-Fourth Edition [PPVT-IV]; Dunn & Dunn, 2007), and a measure of autistic symptoms (the Childhood Autism Rating Scale [CARS]; Schopler, Reichler, & Renner, 2002). 22562829 2012
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder
0.040 Biomarker disease BEFREE We have followed DSM-IV criteria and the screening for autism was carried out using CARS. 18597938 2008
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder
0.040 Biomarker disease BEFREE The 71% (94/133) who fulfilled DSM-IV and CARS autism diagnostic criteria were included in this study. 10766977 2000
CUI: C0036690
Disease: Septicemia
Septicemia
0.030 Biomarker disease BEFREE Sepsis-3 brings a considerable shift regarding the experimental focal point: from inflammatory states (SIRS/CARS) to organ failure (single and multiple) as the decisive factor. 28410332 2017
CUI: C0243026
Disease: Sepsis
Sepsis
0.030 Biomarker disease BEFREE Sepsis-3 brings a considerable shift regarding the experimental focal point: from inflammatory states (SIRS/CARS) to organ failure (single and multiple) as the decisive factor. 28410332 2017