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1 records shown · first 60Increased brain expression of GPNMB is associated with genome wide significant risk for Parkinson's disease on chromosome 7p15.3.
PMID 28391543 | PMCID PMC5522530 | DOI 10.1007/s10048-017-0514-8 · Neurogenetics · 2017 · 4 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| variant | rs199347 | “Top risk SNP rs199347 eQTLs demonstrated increased expressions of GPNMB, KLHL7, and NUPL2 with the major allele (AA) in brain, with most significant eQTLs in cortical regions, followed by putamen.” | 0.90 | hgvs_regex_v1 |
| gene | GPNMB | “Increased brain expression of GPNMB is associated with genome wide significant risk for Parkinson's disease on chromosome 7p15.3.” | 0.98 | hgnc_dict_v1 |
| gene | KLHL7 | “Top risk SNP rs199347 eQTLs demonstrated increased expressions of GPNMB, KLHL7, and NUPL2 with the major allele (AA) in brain, with most significant eQTLs in cortical regions, followed by putamen.” | 0.98 | hgnc_dict_v1 |
| phenotype | Parkinson disease | “Increased brain expression of GPNMB is associated with genome wide significant risk for Parkinson's disease on chromosome 7p15.3.” | 0.93 | phenotype_alias_lexicon_v2 |