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 GermlineCausalMutation disease ORPHANET Homozygous splice mutation in CWF19L1 in a Turkish family with recessive ataxia syndrome. 25361784 2014
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: 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: 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: 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: C0557874
Disease: Global developmental delay
Global developmental delay 		0.110 Biomarker disease HPO
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.110 Biomarker group HPO
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: C0013362
Disease: Dysarthria
Dysarthria 		0.100 Biomarker disease HPO
CUI: C0013421
Disease: Dystonia
Dystonia 		0.100 Biomarker phenotype HPO
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability 		0.100 Biomarker disease HPO
CUI: C0034935
Disease: Babinski Reflex
Babinski Reflex 		0.100 Biomarker phenotype HPO
CUI: C0040822
Disease: Tremor
Tremor 		0.100 Biomarker phenotype HPO