FLCN, folliculin, 201163

N. diseases: 160; N. variants: 127
Disease: Pulmonary Emphysema ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0034067
Disease: Pulmonary Emphysema
Pulmonary Emphysema 		0.020 Biomarker disease BEFREE Because the majority of patients with folliculin mutations have radiographic evidence of pulmonary cysts, folliculin has been hypothesized to contribute to the development of emphysema. 19116017 2008
CUI: C0034067
Disease: Pulmonary Emphysema
Pulmonary Emphysema 		0.020 GeneticVariation disease BEFREE Because development of a pneumothorax and/or pulmonary blebs may be the earliest or the only clinical manifestation of FLCN mutations, pulmonologists should be alert to the contribution of this gene toward this familial form of emphysema. 15805188 2005