Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 1277
Gene Symbol: COL1A1
COL1A1
Osteogenesis imperfecta type IV (disorder)
0.970 GeneticVariation UNIPROT Mutations in type I collagen genes in Japanese osteogenesis imperfecta patients. 17875077

2007

Entrez Id: 1277
Gene Symbol: COL1A1
COL1A1
Osteogenesis imperfecta type IV (disorder)
0.970 GeneticVariation UNIPROT Osteogenesis imperfecta: clinical, biochemical and molecular findings. 16879195

2006

Entrez Id: 1277
Gene Symbol: COL1A1
COL1A1
Osteogenesis imperfecta type IV (disorder)
0.970 GeneticVariation UNIPROT Mutation analysis of COL1A1 and COL1A2 in patients diagnosed with osteogenesis imperfecta type I-IV. 16786509

2006

Entrez Id: 1277
Gene Symbol: COL1A1
COL1A1
Osteogenesis imperfecta type IV (disorder)
0.970 GeneticVariation UNIPROT Three novel type I collagen mutations in osteogenesis imperfecta type IV probands are associated with discrepancies between electrophoretic migration of osteoblast and fibroblast collagen. 9600458

1998

Entrez Id: 1277
Gene Symbol: COL1A1
COL1A1
Osteogenesis imperfecta type IV (disorder)
0.970 GeneticVariation UNIPROT Substitution of serine for glycine 883 in the triple helix of the pro alpha 1 (I) chain of type I procollagen produces osteogenesis imperfecta type IV and introduces a structural change in the triple helix that does not alter cleavage of the molecule by procollagen N-proteinase. 7982948

1994

Entrez Id: 1277
Gene Symbol: COL1A1
COL1A1
Osteogenesis imperfecta type IV (disorder)
0.970 GeneticVariation UNIPROT Serine for glycine substitutions in type I collagen in two cases of type IV osteogenesis imperfecta (OI). Additional evidence for a regional model of OI pathophysiology. 8094076

1993

Entrez Id: 1277
Gene Symbol: COL1A1
COL1A1
Osteogenesis imperfecta type IV (disorder)
0.970 GeneticVariation UNIPROT A cysteine for glycine substitution at position 175 in an alpha 1 (I) chain of type I collagen produces a clinically heterogeneous form of osteogenesis imperfecta. 8339541

1993

Entrez Id: 1277
Gene Symbol: COL1A1
COL1A1
Osteogenesis imperfecta type IV (disorder)
0.970 GeneticVariation UNIPROT An RT-PCR-SSCP screening strategy for detection of mutations in the gene encoding the alpha 1 chain of type I collagen: application to four patients with osteogenesis imperfecta. 7691343

1993

Entrez Id: 1277
Gene Symbol: COL1A1
COL1A1
Osteogenesis imperfecta type IV (disorder)
0.970 GeneticVariation UNIPROT Substitution of cysteine for glycine at residue 415 of one allele of the alpha 1(I) chain of type I procollagen in type III/IV osteogenesis imperfecta. 1770532

1991

Entrez Id: 1277
Gene Symbol: COL1A1
COL1A1
Osteogenesis imperfecta type IV (disorder)
0.970 GeneticVariation UNIPROT A de novo G to T transversion in a pro-alpha 1 (I) collagen gene for a moderate case of osteogenesis imperfecta. Substitution of cysteine for glycine 178 in the triple helical domain. 1988452

1991

Entrez Id: 1277
Gene Symbol: COL1A1
COL1A1
Osteogenesis imperfecta type IV (disorder)
0.970 GeneticVariation UNIPROT Osteogenesis imperfecta type IV. Detection of a point mutation in one alpha 1(I) collagen allele (COL1A1) by RNA/RNA hybrid analysis. 2745420

1989