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 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 CausalMutation disease CLINVAR
CUI: C4015301
Disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 17
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 17 		0.600 GeneticVariation disease CLINVAR
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 GermlineCausalMutation disease ORPHANET Homozygous splice mutation in CWF19L1 in a Turkish family with recessive ataxia syndrome. 25361784 2014
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
CUI: C0752124
Disease: Spinocerebellar Ataxia Type 6 (disorder)
Spinocerebellar Ataxia Type 6 (disorder) 		0.300 Biomarker disease CTD_human
CUI: C0752125
Disease: Spinocerebellar Ataxia Type 7
Spinocerebellar Ataxia Type 7 		0.300 Biomarker disease CTD_human
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.110 Biomarker disease HPO
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: C0013362
Disease: Dysarthria
Dysarthria 		0.100 Biomarker disease HPO
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability 		0.100 Biomarker disease HPO
CUI: C0175754
Disease: Agenesis of corpus callosum
Agenesis of corpus callosum 		0.100 Biomarker disease HPO
CUI: C0266470
Disease: Cerebellar Hypoplasia
Cerebellar Hypoplasia 		0.100 Biomarker disease HPO
CUI: C0271270
Disease: Oculovestibuloauditory syndrome
Oculovestibuloauditory syndrome 		0.100 Biomarker disease HPO
CUI: C0271385
Disease: Horizontal Nystagmus
Horizontal Nystagmus 		0.100 Biomarker disease HPO
CUI: C0431447
Disease: Synophrys
Synophrys 		0.100 Biomarker disease HPO
CUI: C3489733
Disease: Oculomotor apraxia
Oculomotor apraxia 		0.100 Biomarker disease HPO
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