Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4015301
Disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 17
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 17 		0.600 GeneticVariation disease CLINVAR
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.110 GeneticVariation disease BEFREE Our results suggest that CWF19L1 mutations may be a novel cause of recessive ataxia with developmental delay. 25361784 2014
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.110 GeneticVariation group BEFREE We identified a homozygous frameshift mutation in CWF19L1 (c.467delC; p.(P156Hfs*33)) by a combination of linkage analysis and Whole Exome Sequencing in a consanguineous Turkish family with a 9-year-old boy affected by early onset cerebellar ataxia and mild ID. 27016154 2016
CUI: C0392885
Disease: High density lipoprotein measurement
High density lipoprotein measurement 		0.100 GeneticVariation phenotype GWASCAT A large electronic-health-record-based genome-wide study of serum lipids. 29507422 2018
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement 		0.100 GeneticVariation phenotype GWASCAT A large electronic-health-record-based genome-wide study of serum lipids. 29507422 2018
CUI: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia 		0.030 GeneticVariation phenotype BEFREE Pathogenic CWF19L1 variants as a novel cause of autosomal recessive cerebellar ataxia and atrophy. 26197978 2016
CUI: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia 		0.030 GeneticVariation phenotype BEFREE So far, homozygous or compound heterozygous mutations in CWF19L1 have been identified in two Turkish siblings and a Dutch girl, respectively, affected by cerebellar ataxia and ID. 27016154 2016
CUI: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia 		0.030 GeneticVariation phenotype BEFREE Our results suggest that CWF19L1 mutations may be a novel cause of recessive ataxia with developmental delay. 25361784 2014
CUI: C0004134
Disease: Ataxia
Ataxia 		0.010 GeneticVariation phenotype BEFREE Our results suggest that CWF19L1 mutations may be a novel cause of recessive ataxia with developmental delay. 25361784 2014
CUI: C0015695
Disease: Fatty Liver
Fatty Liver 		0.010 GeneticVariation disease BEFREE Our findings suggest ERLIN1-CHUK-CWF19L1 variants are associated with early stage of FL accumulation (measured by CT) to hepatic inflammation (ALT levels), and the association enhances when accounting for the correlations between their scans. 23477746 2013
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.010 GeneticVariation group BEFREE A zebrafish model showed that CWF19L1 loss-of-function mutations result in abnormal cerebellar morphology and movement disorders. 27016154 2016
CUI: C0393519
Disease: Cerebellar Ataxia, Early Onset
Cerebellar Ataxia, Early Onset 		0.010 GeneticVariation disease BEFREE We identified a homozygous frameshift mutation in CWF19L1 (c.467delC; p.(P156Hfs*33)) by a combination of linkage analysis and Whole Exome Sequencing in a consanguineous Turkish family with a 9-year-old boy affected by early onset cerebellar ataxia and mild ID. 27016154 2016
CUI: C0400966
Disease: Non-alcoholic Fatty Liver Disease
Non-alcoholic Fatty Liver Disease 		0.010 GeneticVariation disease BEFREE CMA approach enhanced the ability to identify novel variants of the ERLIN1-CHUK-CWF19L1 influencing both simple steatosis and hepatic steatosis with inflammation, which suggest that this gene cluster may regulate the susceptibility of NAFLD in a wide spectrum of disease. 23477746 2013
CUI: C0424605
Disease: Developmental delay (disorder)
Developmental delay (disorder) 		0.010 GeneticVariation phenotype BEFREE Our results suggest that CWF19L1 mutations may be a novel cause of recessive ataxia with developmental delay. 25361784 2014
CUI: C0740279
Disease: Cerebellar atrophy
Cerebellar atrophy 		0.010 GeneticVariation disease BEFREE Exome sequencing reveals a novel CWF19L1 mutation associated with intellectual disability and cerebellar atrophy. 27016154 2016
CUI: C2711227
Disease: Steatohepatitis
Steatohepatitis 		0.010 GeneticVariation disease BEFREE Our findings suggest ERLIN1-CHUK-CWF19L1 variants are associated with early stage of FL accumulation (measured by CT) to hepatic inflammation (ALT levels), and the association enhances when accounting for the correlations between their scans. 23477746 2013
CUI: C4015301
Disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 17
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 17 		0.600 Biomarker disease GENOMICS_ENGLAND Novel candidate genes and variants underlying autosomal recessive neurodevelopmental disorders with intellectual disability. 30167849 2018
CUI: C4015301
Disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 17
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 17 		0.600 Biomarker disease GENOMICS_ENGLAND Pathogenic CWF19L1 variants as a novel cause of autosomal recessive cerebellar ataxia and atrophy. 26197978 2016
CUI: C4015301
Disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 17
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 17 		0.600 Biomarker disease GENOMICS_ENGLAND
CUI: C4015301
Disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 17
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 17 		0.600 Biomarker disease GENOMICS_ENGLAND
CUI: C0087012
Disease: Ataxia, Spinocerebellar
Ataxia, Spinocerebellar 		0.300 Biomarker disease CTD_human
CUI: C0752120
Disease: Spinocerebellar Ataxia Type 1
Spinocerebellar Ataxia Type 1 		0.300 Biomarker disease CTD_human
CUI: C0752121
Disease: Spinocerebellar Ataxia Type 2
Spinocerebellar Ataxia Type 2 		0.300 Biomarker disease CTD_human
CUI: C0752122
Disease: Spinocerebellar Ataxia Type 4
Spinocerebellar Ataxia Type 4 		0.300 Biomarker disease CTD_human
CUI: C0752123
Disease: Spinocerebellar Ataxia Type 5
Spinocerebellar Ataxia Type 5 		0.300 Biomarker disease CTD_human