Annotation Detail

Information
Associated Genes
HIF1A
Associated Variants
HIF1A MUTATION
HIF1A MUTATION
Associated Disease
pulmonary fibrosis
Source Database
DisGeNET
Description
Overexpression of angiogenic factors (activation of VEGF through HIF-1A) may predispose to chronic course and lung fibrosis, whereas immunoangiostasis (related to an overexpression of inhibitory ING-4) may be involved in granuloma formation in early sarcoid inflammation, or sustained or recurrent formation of granulomas.
Pubmed
26022899
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
2
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.000542883744160607
Drugs