Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0752122
Disease: Spinocerebellar Ataxia Type 4
Spinocerebellar Ataxia Type 4 		0.300 GeneticVariation disease ORPHANET Two dominantly inherited ataxias linked to chromosome 16q22.1: SCA4 and SCA31 are not allelic. 21267591 2011
CUI: C0752122
Disease: Spinocerebellar Ataxia Type 4
Spinocerebellar Ataxia Type 4 		0.300 GeneticVariation disease ORPHANET Spinocerebellar ataxia type 4 and 16q22.1-linked Japanese ataxia are not allelic. 18293026 2008
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: C0004134
Disease: Ataxia
Ataxia 		0.120 GeneticVariation phenotype BEFREE We found the C-to-T substitution in the puratrophin-1 gene in 20 patients with ataxia (16 heterozygotes and four homozygotes) and four asymptomatic carriers in 9 of 24 families with an unknown type of ADCA. 16780885 2006
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: 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: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia 		0.080 GeneticVariation phenotype BEFREE We found the C-to-T substitution in the puratrophin-1 gene in 20 patients with ataxia (16 heterozygotes and four homozygotes) and four asymptomatic carriers in 9 of 24 families with an unknown type of ADCA. 16780885 2006
CUI: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia 		0.080 GeneticVariation phenotype BEFREE A single nucleotide substitution in the puratrophin-1 gene is associated with 16q22.1-linked ADCA showing pure cerebellar ataxia. 17661799 2007
CUI: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia 		0.080 GeneticVariation phenotype LHGDN Redefining the disease locus of 16q22.1-linked autosomal dominant cerebellar ataxia. 17611710 2007
CUI: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia 		0.080 GeneticVariation phenotype BEFREE Mutations of the puratrophin-1 (PLEKHG4) gene on chromosome 16q22.1 are not a common genetic cause of cerebellar ataxia in a European population. 16491300 2006
CUI: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia 		0.080 GeneticVariation phenotype LHGDN Fine mapping of 16q-linked autosomal dominant cerebellar ataxia type III in Japanese families. 15455264 2004
CUI: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia 		0.080 GeneticVariation phenotype BEFREE 16q-ADCA (OMIM no.117210) is an autosomal dominant spinocerebellar ataxia (AD-SCA) characterized by late-onset pure cerebellar ataxia and -16C>T substitution of the puratrophin-1 gene. 19444286 2009
CUI: C4087347
Disease: Autosomal dominant cerebellar ataxia
Autosomal dominant cerebellar ataxia 		0.070 GeneticVariation disease BEFREE A single nucleotide substitution in the puratrophin-1 gene is associated with 16q22.1-linked ADCA showing pure cerebellar ataxia. 17661799 2007
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: 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: C4087347
Disease: Autosomal dominant cerebellar ataxia
Autosomal dominant cerebellar ataxia 		0.070 GeneticVariation disease BEFREE Recently, a single nucleotide substitution in the 5'-untranslated region (UTR) of the puratrophin-1 (PLEKHG4) gene on chromosome 16q22.1 has been shown to be associated with ADCA in 52 unrelated Japanese families. 16491300 2006
CUI: C4087347
Disease: Autosomal dominant cerebellar ataxia
Autosomal dominant cerebellar ataxia 		0.070 GeneticVariation disease BEFREE In this study we investigated 67 genetically undefined ADCA families from the Nagano prefecture, and found that 63 patients from 51 families possessed the -16C>T change in the puratrophin-1 gene, which was recently found to be pathogenic for 16q22-linked ADCA. 16614795 2006
CUI: C4087347
Disease: Autosomal dominant cerebellar ataxia
Autosomal dominant cerebellar ataxia 		0.070 GeneticVariation disease BEFREE We also detected the heterozygous -16C --> T single nucleotide substitution within the puratrophin-1 gene responsible for 16q22.1-linked ADCA in ten families. 17805477 2007
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
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: 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: C0087012
Disease: Ataxia, Spinocerebellar
Ataxia, Spinocerebellar 		0.040 GeneticVariation disease LHGDN Clinical and genetic characterizations of 16q-linked autosomal dominant spinocerebellar ataxia (AD-SCA) and frequency analysis of AD-SCA in the Japanese population. 17357132 2007
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: C0018790
Disease: Cardiac Arrest
Cardiac Arrest 		0.030 GeneticVariation disease BEFREE However, mutations of the PLEKHG4 gene and the SPTBN2 gene are not the causes of SCAs in this family. 20641168 2010
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