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
CUI: C0013421
Disease: Dystonia
Dystonia 		0.220 Biomarker phenotype BEFREE Mutations in Atcay/ATCAY have been identified as causative of cerebellar disorders such as the rare hereditary disease Cayman ataxia in humans, generalized dystonia in the dystonic (dt) rat, and marked motor defects in three ataxic mouse lines. 23226316 2012
CUI: C0393593
Disease: Dystonia Disorders
Dystonia Disorders 		0.220 Biomarker group BEFREE Mutations in Atcay/ATCAY have been identified as causative of cerebellar disorders such as the rare hereditary disease Cayman ataxia in humans, generalized dystonia in the dystonic (dt) rat, and marked motor defects in three ataxic mouse lines. 23226316 2012
CUI: C0013421
Disease: Dystonia
Dystonia 		0.220 Biomarker phenotype RGD Caytaxin deficiency causes generalized dystonia in rats. 16246457 2005
CUI: C0013421
Disease: Dystonia
Dystonia 		0.220 Biomarker phenotype BEFREE Caytaxin deficiency causes generalized dystonia in rats. 16246457 2005
CUI: C0393593
Disease: Dystonia Disorders
Dystonia Disorders 		0.220 Biomarker group RGD Caytaxin deficiency causes generalized dystonia in rats. 16246457 2005
CUI: C0393593
Disease: Dystonia Disorders
Dystonia Disorders 		0.220 Biomarker group BEFREE Caytaxin deficiency causes generalized dystonia in rats. 16246457 2005
CUI: C0013362
Disease: Dysarthria
Dysarthria 		0.100 Biomarker disease HPO
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 Biomarker phenotype HPO
CUI: C0028738
Disease: Nystagmus
Nystagmus 		0.100 Biomarker disease HPO
CUI: C0234376
Disease: Action Tremor
Action Tremor 		0.100 Biomarker phenotype HPO
CUI: C0266470
Disease: Cerebellar Hypoplasia
Cerebellar Hypoplasia 		0.100 Biomarker disease HPO
CUI: C0424230
Disease: Motor retardation
Motor retardation 		0.100 Biomarker phenotype HPO
CUI: C0427190
Disease: Ataxia, Truncal
Ataxia, Truncal 		0.100 Biomarker phenotype HPO
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.100 Biomarker disease HPO
CUI: C0751837
Disease: Gait Ataxia
Gait Ataxia 		0.100 Biomarker phenotype HPO
CUI: C0856863
Disease: Broad-based gait
Broad-based gait 		0.100 Biomarker phenotype HPO
CUI: C1845029
Disease: Nonprogressive cerebellar ataxia
Nonprogressive cerebellar ataxia 		0.100 Biomarker phenotype HPO