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 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: 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 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: 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: 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 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 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 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: 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 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