Annotation Detail
Information
- Associated Genes
- SFTPA1
- Associated Variants
-
ENSG00000264813 p.Ile104Val (p.I104V), ACE p.Ile678Val (p.I678V)
(
ENST00000290866.10,
ENST00000428043.5,
ENST00000290863.10,
ENST00000413513.7 )
SELL p.Pro213Ser (p.P213S) ( ENST00000236147.6, ENST00000650983.1 )
SELL p.Pro213Thr (p.P213T) ( ENST00000650983.1, ENST00000236147.6 )
ENSG00000264813 p.Ile104Val (p.I104V), ACE p.Ile678Val (p.I678V) ( ENST00000290863.10, ENST00000290866.10, ENST00000413513.7, ENST00000428043.5 )
SELL p.Pro213Ser (p.P213S) ( ENST00000236147.6, ENST00000650983.1 )
SELL p.Pro213Thr (p.P213T) ( ENST00000236147.6, ENST00000650983.1 ) - Associated Disease
- bronchopulmonary dysplasia
- Source Database
- DisGeNET
- Description
- Indeed, carrier states of genetic variants of cytokines (IFNgamma T+874A), adhesion molecules (L-selectin-Pro213Ser), elements of renin-angiotensin system (ACE-I/D), antioxidant enzymes (GST-P1 Val105Ile), and surfactant proteins (SPA1, SPB intron 4) has been identified as risk factors to BPD.
- Pubmed
- 17726703
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.00108576748832121
- Year of publication
- 2007
Drugs