Source: UNIPROT

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 1289
Gene Symbol: COL5A1
COL5A1
CUI: C4552122
Disease: EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1
EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1 		0.600 GeneticVariation UNIPROT COL5A1 signal peptide mutations interfere with protein secretion and cause classic Ehlers-Danlos syndrome. 18972565

2009
Entrez Id: 1289
Gene Symbol: COL5A1
COL5A1
CUI: C4552122
Disease: EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1
EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1 		0.600 GeneticVariation UNIPROT The molecular basis of classic Ehlers-Danlos syndrome: a comprehensive study of biochemical and molecular findings in 48 unrelated patients. 15580559

2005
Entrez Id: 1289
Gene Symbol: COL5A1
COL5A1
CUI: C4552122
Disease: EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1
EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1 		0.600 GeneticVariation UNIPROT Homozygous Gly530Ser substitution in COL5A1 causes mild classical Ehlers-Danlos syndrome. 11992482

2002
Entrez Id: 1289
Gene Symbol: COL5A1
COL5A1
CUI: C4552122
Disease: EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1
EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1 		0.600 GeneticVariation UNIPROT Compound heterozygosity for a disease-causing G1489E [corrected] and disease-modifying G530S substitution in COL5A1 of a patient with the classical type of Ehlers-Danlos syndrome: an explanation of intrafamilial variability? 10602121

2000
Entrez Id: 1289
Gene Symbol: COL5A1
COL5A1
CUI: C4552122
Disease: EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1
EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1 		0.600 GeneticVariation UNIPROT Mutations in the COL5A1 gene are causal in the Ehlers-Danlos syndromes I and II. 9042913

1997