Disease: CEREBELLAR ATAXIA, NONPROGRESSIVE, WITH MENTAL RETARDATION ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3553661
Disease: CEREBELLAR ATAXIA, NONPROGRESSIVE, WITH MENTAL RETARDATION
CEREBELLAR ATAXIA, NONPROGRESSIVE, WITH MENTAL RETARDATION 		0.700 GeneticVariation disease CLINVAR Intragenic CAMTA1 deletions are associated with a spectrum of neurobehavioral phenotypes. 24738973 2015
CUI: C3553661
Disease: CEREBELLAR ATAXIA, NONPROGRESSIVE, WITH MENTAL RETARDATION
CEREBELLAR ATAXIA, NONPROGRESSIVE, WITH MENTAL RETARDATION 		0.700 Biomarker disease GENOMICS_ENGLAND Intragenic CAMTA1 rearrangements cause non-progressive congenital ataxia with or without intellectual disability. 22693284 2012
CUI: C3553661
Disease: CEREBELLAR ATAXIA, NONPROGRESSIVE, WITH MENTAL RETARDATION
CEREBELLAR ATAXIA, NONPROGRESSIVE, WITH MENTAL RETARDATION 		0.700 Biomarker disease GENOMICS_ENGLAND Intragenic CAMTA1 rearrangements cause non-progressive congenital ataxia with or without intellectual disability. 22693284 2012
CUI: C3553661
Disease: CEREBELLAR ATAXIA, NONPROGRESSIVE, WITH MENTAL RETARDATION
CEREBELLAR ATAXIA, NONPROGRESSIVE, WITH MENTAL RETARDATION 		0.700 GermlineCausalMutation disease ORPHANET Intragenic CAMTA1 rearrangements cause non-progressive congenital ataxia with or without intellectual disability. 22693284 2012
CUI: C3553661
Disease: CEREBELLAR ATAXIA, NONPROGRESSIVE, WITH MENTAL RETARDATION
CEREBELLAR ATAXIA, NONPROGRESSIVE, WITH MENTAL RETARDATION 		0.700 Biomarker disease CTD_human
CUI: C3553661
Disease: CEREBELLAR ATAXIA, NONPROGRESSIVE, WITH MENTAL RETARDATION
CEREBELLAR ATAXIA, NONPROGRESSIVE, WITH MENTAL RETARDATION 		0.700 Biomarker disease GENOMICS_ENGLAND