Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4021422
Disease: Abnormality of the distal phalanx of the thumb
Abnormality of the distal phalanx of the thumb 		0.100 Biomarker phenotype HPO
CUI: C0234376
Disease: Action Tremor
Action Tremor 		0.100 Biomarker phenotype HPO
CUI: C0175754
Disease: Agenesis of corpus callosum
Agenesis of corpus callosum 		0.100 Biomarker disease HPO
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: C0087012
Disease: Ataxia, Spinocerebellar
Ataxia, Spinocerebellar 		0.300 Biomarker disease CTD_human
CUI: C0427190
Disease: Ataxia, Truncal
Ataxia, Truncal 		0.100 Biomarker phenotype HPO
CUI: C0034935
Disease: Babinski Reflex
Babinski Reflex 		0.100 Biomarker phenotype HPO
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: 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: 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: C0234162
Disease: Cerebellar Dysmetria
Cerebellar Dysmetria 		0.100 Biomarker phenotype HPO
CUI: C0266470
Disease: Cerebellar Hypoplasia
Cerebellar Hypoplasia 		0.100 Biomarker disease HPO
CUI: C1840379
Disease: Cerebellar vermis hypoplasia
Cerebellar vermis hypoplasia 		0.100 Biomarker phenotype HPO
CUI: C0233844
Disease: Clumsiness
Clumsiness 		0.100 Biomarker phenotype HPO
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		0.100 Biomarker phenotype HPO
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: C0013362
Disease: Dysarthria
Dysarthria 		0.100 Biomarker disease HPO
CUI: C0013421
Disease: Dystonia
Dystonia 		0.100 Biomarker phenotype 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
CUI: C0850703
Disease: Frequent falls
Frequent falls 		0.100 Biomarker phenotype HPO
CUI: C0751837
Disease: Gait Ataxia
Gait Ataxia 		0.100 Biomarker phenotype HPO
CUI: C0231686
Disease: Gait, Unsteady
Gait, Unsteady 		0.100 Biomarker phenotype HPO
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		0.100 Biomarker phenotype HPO