Annotation Detail

Information
Associated Genes
SFTPA2
Associated Variants
SFTPA2 MUTATION
SFTPA2 MUTATION
Associated Disease
Lung diseases
Source Database
DisGeNET
Description
Humans express a repertoire of single-amino acid genetic variants of SP-A that may be associated with lung disease, and our findings demonstrate that allelic differences in SP-A2 (Gln223Lys) affect the binding to MMF.
Pubmed
25957169
Section of the abstract supporting the evidence
ALL_TEXT_1/3
Number of the section of the abstract supporting the evidence
1
Number of the sentence supporting the evidence
3
Original source reporting the Gene Disease association
BeFree,GAD,LHGDN
DisGENET score for the Gene Disease association
0.00672003345355102
Drugs