Annotation Detail

Information
Associated Genes
TIMP1
Associated Variants
TIMP1 MUTATION
TIMP1 MUTATION
Associated Disease
Carcinoma of lung
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
DisGENET score for the Gene Disease association
0.00190009310456212
Drugs