rs149989682, ABCA3

N. diseases: 10
Disease: Respiratory Distress Syndrome ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Respiratory Distress Syndrome
CUI: C0852283
Disease: Respiratory Distress Syndrome
0.010 GeneticVariation BEFREE Term infants carrying the E292V missense mutation of the gene encoding ABCA3 are likely to develop respiratory distress syndrome, and the mutation has also been linked to interstitial lung disease in paediatric patients. 22145626 2012