Disease: Pulmonary Emphysema ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1435682678
rs1435682678
Entrez Id: 5777
Gene Symbol: PTPN6
PTPN6
CUI: C0034067
Disease:
Pulmonary Emphysema 		0.010 GeneticVariation BEFREE The Ala455Thr mutation in SHP-1 caused a reduction in phosphatase activity in vitro, confirming the loss-of-function effect of the mutation. mRNA and protein expression of PTPN6 were upregulated in smokers, but were not associated with emphysema or severity of airflow limitation. 31000475 2019