Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		0.140 GeneticVariation disease BEFREE In conclusion, our study together with meta-analyses demonstrates that the variants of SIPA1L2 and VPS13C, potentially GCH1, but not of MIR4697 and DDRGK1, are associated with PD susceptibility in East Asians. 29622492 2018
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		0.140 GeneticVariation disease GWASCAT A meta-analysis of genome-wide association studies identifies 17 new Parkinson's disease risk loci. 28892059 2017
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		0.140 GeneticVariation disease BEFREE Polymorphism in MIR4697 but not VPS13C, GCH1, or SIPA1L2 is associated with risk of Parkinson's disease in a Han Chinese population. 28380328 2017
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		0.140 GeneticVariation disease BEFREE Our findings first demonstrated that VPS13C rs2414739, MIR4697 rs329648, GCH1 rs11158026, and SIPA1L2 rs10797576 do not confer a significant risk for PD in Chinese population. 26678010 2016
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		0.140 GeneticVariation disease BEFREE Because ethnic-specific effect is an important concern for GWAS analysis, we genotyped single-nucleotide polymorphisms in the new genetic loci, GCH1 (rs11158026), SIPA1L2 (rs10797576), VPS13C (rs2414739), and MIR4697 (rs329648), to investigate their associations with risk of PD in Taiwan. 26804608 2016
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		0.140 GeneticVariation disease GWASCAT Large-scale meta-analysis of genome-wide association data identifies six new risk loci for Parkinson's disease. 25064009 2014
CUI: C0270911
Disease: Charcot-Marie-Tooth Disease, Type Ia (disorder)
Charcot-Marie-Tooth Disease, Type Ia (disorder) 		0.110 Biomarker disease BEFREE SIPA1L2 is a potential genetic modifier of CMT1A phenotypic expressions and offers a new pathway to therapeutic interventions.ANN NEUROL 2019;85:316-330. 30706531 2019
CUI: C0270911
Disease: Charcot-Marie-Tooth Disease, Type Ia (disorder)
Charcot-Marie-Tooth Disease, Type Ia (disorder) 		0.110 GeneticVariation disease GWASCAT Variation in SIPA1L2 is correlated with phenotype modification in Charcot- Marie- Tooth disease type 1A. 30706531 2019
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		0.100 GeneticVariation disease GWASCAT Genome-Wide Association Study Detected Novel Susceptibility Genes for Schizophrenia and Shared Trans-Populations/Diseases Genetic Effect. 30285260 2019
CUI: C0410702
Disease: Adolescent idiopathic scoliosis
Adolescent idiopathic scoliosis 		0.100 GeneticVariation disease GWASCAT The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease. 30019117 2018
CUI: C1837461
Disease: SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3
SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3 		0.100 GeneticVariation disease GWASCAT The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease. 30019117 2018
CUI: C0871470
Disease: Systolic Pressure
Systolic Pressure 		0.100 GeneticVariation phenotype GWASCAT Gene-smoking interactions identify several novel blood pressure loci in the Framingham Heart Study. 25189868 2015
CUI: C0027809
Disease: Neurilemmoma
Neurilemmoma 		0.010 Biomarker disease BEFREE Importantly, in vitro knockdown of SIPA1L2 in Schwannoma cells led to a significant reduction of PMP22 expression, hinting at a potential strategy for drug development. 30706531 2019