MMP1, matrix metallopeptidase 1, 4312

N. diseases: 589; N. variants: 19
Disease: Hallopeau-Siemens Disease ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0079474
Disease: Hallopeau-Siemens Disease
Hallopeau-Siemens Disease 		0.630 GeneticVariation disease BEFREE An investigation into the MMP1 gene promoter region polymorphism--1607 2G with recessive dystrophic epidermolysis bullosa disease severity in northeastern Mexican patients. 24899116 2014
CUI: C0079474
Disease: Hallopeau-Siemens Disease
Hallopeau-Siemens Disease 		0.630 Biomarker disease BEFREE Type VII collagen is a substrate of MMP1 and an imbalance between its synthesis and degradation could conceivably worsen the RDEB phenotype. 18030675 2008
CUI: C0079474
Disease: Hallopeau-Siemens Disease
Hallopeau-Siemens Disease 		0.630 GeneticVariation disease BEFREE Exclusion of stromelysin-1, stromelysin-2, interstitial collagenase and fibronectin genes as the mutant loci in a family with recessive epidermolysis bullosa dystrophica and a form of cerebellar ataxia. 1353052 1992
CUI: C0079474
Disease: Hallopeau-Siemens Disease
Hallopeau-Siemens Disease 		0.630 Biomarker disease GENOMICS_ENGLAND
CUI: C0079474
Disease: Hallopeau-Siemens Disease
Hallopeau-Siemens Disease 		0.630 Biomarker disease GENOMICS_ENGLAND
CUI: C0079474
Disease: Hallopeau-Siemens Disease
Hallopeau-Siemens Disease 		0.630 GermlineModifyingMutation disease ORPHANET
CUI: C0079474
Disease: Hallopeau-Siemens Disease
Hallopeau-Siemens Disease 		0.630 Biomarker disease CTD_human