HS1BP3, HCLS1 binding protein 3, 64342

N. diseases: 7; N. variants: 3
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases 		0.100 GeneticVariation group GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.100 GeneticVariation phenotype GWASCAT Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases. 29403010 2018
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement 		0.100 GeneticVariation phenotype GWASCAT Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases. 29403010 2018
CUI: C0270736
Disease: Essential Tremor
Essential Tremor 		0.060 Biomarker disease BEFREE Variants in the dopamine receptor D3 (DRD3) and HCLS1 binding protein 3 (HS1BP3) have been nominated as risk factors for essential tremor (ET). 19524641 2009
CUI: C0270736
Disease: Essential Tremor
Essential Tremor 		0.060 GeneticVariation disease BEFREE Seven heterozygous A265G variants in the HS1BP3 gene were found in this pedigree, but they did not cosegregate with ET, Parkinson disease, or Bell palsy, supporting the conclusion that this variant is not associated with ET. 17353387 2007
CUI: C0270736
Disease: Essential Tremor
Essential Tremor 		0.060 GeneticVariation disease BEFREE Two genetic loci have been identified in autosomal dominant (AD) ET and polymorphisms in the DRD3 and HS1-BP3 genes have been proposed as the possible susceptibility factors for ET. 16721753 2006
CUI: C0270736
Disease: Essential Tremor
Essential Tremor 		0.060 GeneticVariation disease BEFREE The 828C-->G genetic variant in the HS1-BP3 gene occurs relatively frequently in subjects with ET. 16211613 2006
CUI: C0270736
Disease: Essential Tremor
Essential Tremor 		0.060 GeneticVariation disease BEFREE A rare variant in the HS1-BP3 gene that is associated with essential tremor (ET) in two families is reported. 15699368 2005
CUI: C0270736
Disease: Essential Tremor
Essential Tremor 		0.060 GeneticVariation disease LHGDN Extended study of A265G variant of HS1BP3 in essential tremor and Parkinson disease. 16116142 2005
CUI: C0270736
Disease: Essential Tremor
Essential Tremor 		0.060 Biomarker disease LHGDN A variant in the HS1-BP3 gene is associated with familial essential tremor. 15699368 2005
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		0.020 GeneticVariation disease BEFREE Statistical analysis failed to identify significant differences in the frequency of these variants between the case and control groups; therefore our results do not support a role for these DRD3 and HS1BP3 variants in PD. 19524641 2009
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		0.020 GeneticVariation disease LHGDN Extended study of A265G variant of HS1BP3 in essential tremor and Parkinson disease. 16116142 2005
CUI: C0005747
Disease: Blepharospasm
Blepharospasm 		0.010 GeneticVariation disease BEFREE Deleterious variants in HS1BP3 (NM_022460.3: c.94C>A, p.Gly32Cys) and GNA14 (NM_004297.3: c.989_990del, p.Thr330ArgfsTer67) were identified in a father and son with segmental cranio-cervical dystonia first manifest as BSP. 29770609 2018
CUI: C4275179
Disease: Young onset Parkinson disease
Young onset Parkinson disease 		0.010 GeneticVariation disease BEFREE To investigate the presence of mutations in the parkin gene and the A265G variant in the HS1BP3 gene in a Mexican family with EOPD, ET, and Bell palsy. 17353387 2007