Source: ALL

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 1277
Gene Symbol: COL1A1
COL1A1
CUI: C4552122
Disease: EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1
EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1 		0.500 GeneticVariation UNIPROT Three arginine to cysteine substitutions in the pro-alpha (I)-collagen chain cause Ehlers-Danlos syndrome with a propensity to arterial rupture in early adulthood. 17211858

2007
Entrez Id: 1277
Gene Symbol: COL1A1
COL1A1
CUI: C4552122
Disease: EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1
EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1 		0.500 Biomarker GENOMICS_ENGLAND Mice with a deletion in the first intron of the Col1a1 gene develop age-dependent aortic dissection and rupture. 14630726

2004
Entrez Id: 1277
Gene Symbol: COL1A1
COL1A1
CUI: C4552122
Disease: EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1
EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1 		0.500 GeneticVariation UNIPROT Classical Ehlers-Danlos syndrome caused by a mutation in type I collagen. 10739762

2000
Entrez Id: 1277
Gene Symbol: COL1A1
COL1A1
CUI: C4552122
Disease: EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1
EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1 		0.500 Biomarker GENOMICS_ENGLAND Characterization of a COL1A1 splicing defect in a case of Ehlers-Danlos syndrome type VII: further evidence of molecular homogeneity. 1867198

1991
Entrez Id: 1277
Gene Symbol: COL1A1
COL1A1
CUI: C4552122
Disease: EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1
EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1 		0.500 Biomarker GENOMICS_ENGLAND

Entrez Id: 1277
Gene Symbol: COL1A1
COL1A1
CUI: C4552122
Disease: EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1
EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1 		0.500 Biomarker GENOMICS_ENGLAND