Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0004134
Disease: Ataxia
Ataxia 		0.120 Biomarker phenotype HPO
CUI: C0013362
Disease: Dysarthria
Dysarthria 		0.100 Biomarker disease HPO
CUI: C0558845
Disease: Reflex, Ankle, Absent
Reflex, Ankle, Absent 		0.100 Biomarker phenotype HPO
CUI: C0575081
Disease: Gait abnormality
Gait abnormality 		0.100 Biomarker group HPO
CUI: C1295585
Disease: Decreased vibratory sense
Decreased vibratory sense 		0.100 Biomarker phenotype HPO
CUI: C1842587
Disease: Sensory axonal neuropathy
Sensory axonal neuropathy 		0.100 Biomarker phenotype HPO
CUI: C1856691
Disease: Impaired proprioception
Impaired proprioception 		0.100 Biomarker phenotype HPO
CUI: C1866284
Disease: Motor deterioration
Motor deterioration 		0.100 Biomarker phenotype HPO
CUI: C2749625
Disease: Motor axonal neuropathy
Motor axonal neuropathy 		0.100 Biomarker phenotype HPO
CUI: C4021221
Disease: Impaired tactile sensation
Impaired tactile sensation 		0.100 Biomarker phenotype HPO
CUI: C4551915
Disease: Gait Disturbance, CTCAE
Gait Disturbance, CTCAE 		0.100 Biomarker phenotype HPO
CUI: C4087347
Disease: Autosomal dominant cerebellar ataxia
Autosomal dominant cerebellar ataxia 		0.070 GeneticVariation disease BEFREE During the last few years several types of ADCA type I have been localized and to date six genetically distinct forms have been identified including SCA1 (6p), SCA2 (12q), SCA3 and Machado-Joseph disease (MJD) (14q), SCA4 (16q), and finally SCA5 (11). 7581386 1995
CUI: C0024408
Disease: Machado-Joseph Disease
Machado-Joseph Disease 		0.010 GeneticVariation disease BEFREE During the last few years several types of ADCA type I have been localized and to date six genetically distinct forms have been identified including SCA1 (6p), SCA2 (12q), SCA3 and Machado-Joseph disease (MJD) (14q), SCA4 (16q), and finally SCA5 (11). 7581386 1995
CUI: C0751781
Disease: Dentatorubral-Pallidoluysian Atrophy
Dentatorubral-Pallidoluysian Atrophy 		0.010 Biomarker disease BEFREE Six different genes causing autosomal dominant SCA are mapped: SCA1, SCA2, Machado-Joseph disease (MJD)/SCA3, SCA4, SCA5, and dentatorubropallidoluysian atrophy (DRPLA). 8559378 1996
CUI: C0018790
Disease: Cardiac Arrest
Cardiac Arrest 		0.030 GeneticVariation disease BEFREE Two additional SCA loci on chromosomes 16 and 11 have been designated SCA4 and SCA5. 9818872 1998
CUI: C0087012
Disease: Ataxia, Spinocerebellar
Ataxia, Spinocerebellar 		0.040 GeneticVariation disease BEFREE No CAG repeat expansions were detected at the spinocerebellar ataxia (SCA) type 1, 2, 3, 6, or 7 locus, and SCAs 4 and 5 were excluded by linkage analysis. 10072060 1999
CUI: C0018790
Disease: Cardiac Arrest
Cardiac Arrest 		0.030 GeneticVariation disease BEFREE No CAG repeat expansions were detected at the spinocerebellar ataxia (SCA) type 1, 2, 3, 6, or 7 locus, and SCAs 4 and 5 were excluded by linkage analysis. 10072060 1999
CUI: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia 		0.080 GeneticVariation phenotype BEFREE A gene on SCA4 locus causes dominantly inherited pure cerebellar ataxia. 10822439 2000
CUI: C4087347
Disease: Autosomal dominant cerebellar ataxia
Autosomal dominant cerebellar ataxia 		0.070 GeneticVariation disease BEFREE The locus was exactly the candidate interval of SCA4, a rare form of ADCA clinically characterized by ataxia with sensory neuropathy and pyramidal tract signs. 10822439 2000
CUI: C0087012
Disease: Ataxia, Spinocerebellar
Ataxia, Spinocerebellar 		0.040 GeneticVariation disease BEFREE The autosomal dominant spinocerebellar ataxias (SCAs) are a group of late-onset, neurodegenerative disorders for which 10 loci have been mapped (SCA1, SCA2, SCA4-SCA8, SCA10, MJD, and DRPLA). 10712199 2000
CUI: C0007760
Disease: Cerebellar Diseases
Cerebellar Diseases 		0.010 GeneticVariation group BEFREE The current study provides evidence that a gene on the SCA4 locus causes a pure cerebellar syndrome. 10822439 2000
CUI: C0234132
Disease: Pyramidal sign
Pyramidal sign 		0.010 GeneticVariation phenotype BEFREE The locus was exactly the candidate interval of SCA4, a rare form of ADCA clinically characterized by ataxia with sensory neuropathy and pyramidal tract signs. 10822439 2000
CUI: C0004134
Disease: Ataxia
Ataxia 		0.120 GeneticVariation phenotype BEFREE Laboratory analysis showed that the disorder was not caused by mutations in genes that cause SCA-1, SCA-2, SCA-3, SCA-6, SCA-7, SCA-8, and SCA-12; not linked to other known loci for autosomal dominant ataxia (SCA-4, SCA-5, SCA-10, SCA-11, SCA-13, SCA-14, and SCA-16); and not linked to known loci for autosomal dominant hereditary spastic paraplegia (HSP) (SPG-3, SPG-4, SPG-6, SPG-8, SPG-9, SPG-10, SPG-12, and SPG-13) or autosomal recessive HSP SPG-7. 11839840 2002
CUI: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia 		0.080 GeneticVariation phenotype BEFREE Laboratory analysis showed that the disorder was not caused by mutations in genes that cause SCA-1, SCA-2, SCA-3, SCA-6, SCA-7, SCA-8, and SCA-12; not linked to other known loci for autosomal dominant ataxia (SCA-4, SCA-5, SCA-10, SCA-11, SCA-13, SCA-14, and SCA-16); and not linked to known loci for autosomal dominant hereditary spastic paraplegia (HSP) (SPG-3, SPG-4, SPG-6, SPG-8, SPG-9, SPG-10, SPG-12, and SPG-13) or autosomal recessive HSP SPG-7. 11839840 2002
CUI: C0087012
Disease: Ataxia, Spinocerebellar
Ataxia, Spinocerebellar 		0.040 GeneticVariation disease LHGDN Refinement of the spinocerebellar ataxia type 4 locus in a large German family and exclusion of CAG repeat expansions in this region. 12796826 2003