COL1A1, collagen type I alpha 1 chain, 1277

N. diseases: 487; N. variants: 337
Disease: EHLERS-DANLOS SYNDROME, ARTHROCHALASIA TYPE ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0268345
Disease: EHLERS-DANLOS SYNDROME, ARTHROCHALASIA TYPE
EHLERS-DANLOS SYNDROME, ARTHROCHALASIA TYPE 		0.310 GermlineCausalMutation disease ORPHANET Ehlers-Danlos syndrome type VIIA and VIIB result from splice-junction mutations or genomic deletions that involve exon 6 in the COL1A1 and COL1A2 genes of type I collagen. 9295084 1997
CUI: C0268345
Disease: EHLERS-DANLOS SYNDROME, ARTHROCHALASIA TYPE
EHLERS-DANLOS SYNDROME, ARTHROCHALASIA TYPE 		0.310 GermlineCausalMutation disease ORPHANET Characterization of a COL1A1 splicing defect in a case of Ehlers-Danlos syndrome type VII: further evidence of molecular homogeneity. 1867198 1991
CUI: C0268345
Disease: EHLERS-DANLOS SYNDROME, ARTHROCHALASIA TYPE
EHLERS-DANLOS SYNDROME, ARTHROCHALASIA TYPE 		0.310 Biomarker disease BEFREE Characterization of a COL1A1 splicing defect in a case of Ehlers-Danlos syndrome type VII: further evidence of molecular homogeneity. 1867198 1991