Disease: CEREBELLAR ATAXIA, CAYMAN TYPE ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1832585
Disease: CEREBELLAR ATAXIA, CAYMAN TYPE
CEREBELLAR ATAXIA, CAYMAN TYPE 		0.810 Biomarker disease BEFREE Human Cayman ataxia and mouse or rat dystonia are linked to mutations in the genes ATCAY (Atcay) that encode BNIP-H or Caytaxin, a brain-specific member of the BNIP-2 family. 16899818 2006
CUI: C1832585
Disease: CEREBELLAR ATAXIA, CAYMAN TYPE
CEREBELLAR ATAXIA, CAYMAN TYPE 		0.810 Biomarker disease MGD Mutations in a novel gene encoding a CRAL-TRIO domain cause human Cayman ataxia and ataxia/dystonia in the jittery mouse. 14556008 2003
CUI: C1832585
Disease: CEREBELLAR ATAXIA, CAYMAN TYPE
CEREBELLAR ATAXIA, CAYMAN TYPE 		0.810 GeneticVariation disease UNIPROT Mutations in a novel gene encoding a CRAL-TRIO domain cause human Cayman ataxia and ataxia/dystonia in the jittery mouse. 14556008 2003
CUI: C1832585
Disease: CEREBELLAR ATAXIA, CAYMAN TYPE
CEREBELLAR ATAXIA, CAYMAN TYPE 		0.810 GermlineCausalMutation disease ORPHANET Mutations in a novel gene encoding a CRAL-TRIO domain cause human Cayman ataxia and ataxia/dystonia in the jittery mouse. 14556008 2003
CUI: C1832585
Disease: CEREBELLAR ATAXIA, CAYMAN TYPE
CEREBELLAR ATAXIA, CAYMAN TYPE 		0.810 Biomarker disease GENOMICS_ENGLAND Mutations in a novel gene encoding a CRAL-TRIO domain cause human Cayman ataxia and ataxia/dystonia in the jittery mouse. 14556008 2003
CUI: C1832585
Disease: CEREBELLAR ATAXIA, CAYMAN TYPE
CEREBELLAR ATAXIA, CAYMAN TYPE 		0.810 Biomarker disease GENOMICS_ENGLAND
CUI: C1832585
Disease: CEREBELLAR ATAXIA, CAYMAN TYPE
CEREBELLAR ATAXIA, CAYMAN TYPE 		0.810 Biomarker disease CTD_human
CUI: C1832585
Disease: CEREBELLAR ATAXIA, CAYMAN TYPE
CEREBELLAR ATAXIA, CAYMAN TYPE 		0.810 Biomarker disease GENOMICS_ENGLAND