COL1A2, collagen type I alpha 2 chain, 1278

N. diseases: 271; N. variants: 178
Disease: Marfan Syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome 		0.060 Biomarker disease BEFREE The data obtained exclude linkage of Marfan syndrome to the two major fibrillar collagen (COL1A1, COL1A2, and COL2A1) genes. 1969488 1990
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome 		0.060 GeneticVariation disease BEFREE A substitution at a non-glycine position in the triple-helical domain of pro alpha 2(I) collagen chains present in an individual with a variant of the Marfan syndrome. 1978725 1990
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome 		0.060 Biomarker disease BEFREE The inheritance of restriction fragment length polymorphisms for two fibrillar collagen genes (COL1A2 and COL3A1) has been studied in a large Marfan syndrome kindred. 2883320 1987
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome 		0.060 GeneticVariation disease BEFREE Length polymorphism in the pro alpha 2(I) collagen gene: an alternative explanation in a case of Marfan syndrome. 3011649 1986
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome 		0.060 GeneticVariation disease BEFREE Marfan syndrome: exclusion of genetic linkage to the COL1A2 gene. 2879657 1986
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome 		0.060 GeneticVariation disease BEFREE A 38 base pair insertion in the pro alpha 2(I) collagen gene of a patient with Marfan syndrome. 2985635 1985