COL1A2, collagen type I alpha 2 chain, 1278

N. diseases: 271; N. variants: 178
Disease: Cystic Fibrosis ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		0.040 GeneticVariation disease BEFREE Two were detected because they were homozygous for a cystic fibrosis mutation for which only the mother was heterozygous, and one because he was homozygous for a rare COL1A2 mutation. 7633407 1995
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		0.040 Biomarker disease BEFREE Genetic linkage has been analyzed between cystic fibrosis (CF) and a number of markers on the long arm of chromosome 7, including D7S15, COL1A2, PON, MET, D7S8, and TCRB, using a cohort of 47 Canadian and 13 Danish CF families. 3467587 1986
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		0.040 Biomarker disease BEFREE The results of the two-point and three-point linkage analyses indicate that the most probable order of these four genetic loci is COL1A2-D7S15 - PON - CF. 3011363 1986
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		0.040 GeneticVariation disease BEFREE The linkage of cystic fibrosis (CF) and the polymorphic DNA markers pJ3.11, met, 7C22, DOCR1-917, COL1A2, and TCRB have jointly localized the mutation causing CF to chromosome 7q2.1-3.1. 3467586 1986