SFTPC, surfactant protein C, 6440

N. diseases: 89; N. variants: 11
Disease: Dementia ×
Source: BEFREE ×
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0497327
Disease: Dementia
Dementia 		0.020 GeneticVariation disease BEFREE Many of these mutations involve either missense or deletion mutations located in a region of the proSP-C molecule that has structural homology to the BRI family of proteins linked to inherited degenerative dementias. 15709974 2005
CUI: C0497327
Disease: Dementia
Dementia 		0.020 AlteredExpression disease BEFREE These include BRI(2), which is related to familial British and Danish dementia (FBD and FDD); Chondromodulin-I (ChM-I), related to chondrosarcoma; CA11, related to stomach cancer; and surfactant protein C (SP-C), related to respiratory distress syndrome (RDS). 12114016 2002