CBLN1, cerebellin 1 precursor, 869

N. diseases: 5; N. variants: 0
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0004134
Disease: Ataxia
Ataxia 		0.010 Biomarker phenotype BEFREE Cbln4 partially rescued and both glycosylation mutants completely rescued ataxia in cbln1-null mice. 29782851 2018
CUI: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia 		0.010 Biomarker phenotype BEFREE Cbln4 partially rescued and both glycosylation mutants completely rescued ataxia in cbln1-null mice. 29782851 2018
CUI: C0751837
Disease: Gait Ataxia
Gait Ataxia 		0.010 GeneticVariation phenotype BEFREE Here, gait ataxia in mice with a null mutation of the gene for the cerebellin 1 precursor protein (cbln1-null mice) was investigated by kinematic analysis of hindlimb movements during locomotion. 29670152 2018
CUI: C0036572
Disease: Seizures
Seizures 		0.010 Biomarker phenotype BEFREE Our results suggest that gene and seizure interactions in VTA glutamatergic neurons impair sociability by downregulating Cbln1, a key node in the expanding protein interaction network of autism genes. 28297715 2017
CUI: C0431404
Disease: Cerebellar cortical dysplasia
Cerebellar cortical dysplasia 		0.010 Biomarker disease BEFREE The genes ZNF423 and CBLN1 found in the duplicated region play a role in the development of the cerebellum and may be responsible for the cerebellar cortical dysplasia. 22052843 2011