Annotation Detail

Information
Associated Genes
MMP12
Associated Variants
MMP12 MUTATION
MMP12 MUTATION
Associated Disease
Chronic Obstructive Airway Disease
Source Database
DisGeNET
Description
We compared the frequency of single nucleotide polymorphisms in genes coding for matrix proteinases (MMP1, MMP2, MMP3, MMP9, MMP12) as well as tissue inhibitor of metalloproteinases (TIMP1) in two groups of subjects: COPD patients (54 subjects) and COPD patients diagnosed for lung cancer occurrence (53 subjects).The levels of the respective proteins in blood serum were also analyzed.
Pubmed
25292126
Section of the abstract supporting the evidence
MATERIALS AND METHODS
Number of the section of the abstract supporting the evidence
2
Number of the sentence supporting the evidence
4
Original source reporting the Gene Disease association
BeFree,GAD,LHGDN
DisGENET score for the Gene Disease association
0.0247323430559516
Drugs