MMP13, matrix metallopeptidase 13, 4322

N. diseases: 328; N. variants: 14
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0432225
Disease: Metaphyseal chondrodysplasia Spahr type
Metaphyseal chondrodysplasia Spahr type 		0.710 CausalMutation disease CLINVAR
CUI: C0432225
Disease: Metaphyseal chondrodysplasia Spahr type
Metaphyseal chondrodysplasia Spahr type 		0.710 Biomarker disease CTD_human
CUI: C1865832
Disease: Spondyloepimetaphyseal Dysplasia, Missouri Type
Spondyloepimetaphyseal Dysplasia, Missouri Type 		0.710 GermlineCausalMutation disease ORPHANET
CUI: C1865832
Disease: Spondyloepimetaphyseal Dysplasia, Missouri Type
Spondyloepimetaphyseal Dysplasia, Missouri Type 		0.710 Biomarker disease GENOMICS_ENGLAND
CUI: C1865832
Disease: Spondyloepimetaphyseal Dysplasia, Missouri Type
Spondyloepimetaphyseal Dysplasia, Missouri Type 		0.710 Biomarker disease CTD_human
CUI: C1865832
Disease: Spondyloepimetaphyseal Dysplasia, Missouri Type
Spondyloepimetaphyseal Dysplasia, Missouri Type 		0.710 CausalMutation disease CLINVAR
CUI: C0878659
Disease: Disproportionate short stature
Disproportionate short stature 		0.400 CausalMutation phenotype CLINVAR
CUI: C0878659
Disease: Disproportionate short stature
Disproportionate short stature 		0.400 Biomarker phenotype GENOMICS_ENGLAND
CUI: C0878659
Disease: Disproportionate short stature
Disproportionate short stature 		0.400 Biomarker phenotype HPO
CUI: C0029408
Disease: Degenerative polyarthritis
Degenerative polyarthritis 		0.200 Biomarker disease HPO
CUI: C0011334
Disease: Dental caries
Dental caries 		0.130 Biomarker disease HPO
CUI: C0013336
Disease: Dwarfism
Dwarfism 		0.120 Biomarker disease HPO
CUI: C0035579
Disease: Rickets
Rickets 		0.120 CausalMutation disease CLINVAR
CUI: C0432211
Disease: Spondyloepimetaphyseal disorder
Spondyloepimetaphyseal disorder 		0.120 Biomarker disease HPO
CUI: C0024003
Disease: Lordosis
Lordosis 		0.100 Biomarker phenotype HPO
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified 		0.100 Biomarker disease HPO
CUI: C0162298
Disease: Joint stiffness
Joint stiffness 		0.100 Biomarker phenotype HPO
CUI: C0231712
Disease: Waddling gait
Waddling gait 		0.100 Biomarker phenotype HPO
CUI: C0239138
Disease: Hip joint varus deformity - observation
Hip joint varus deformity - observation 		0.100 Biomarker phenotype HPO
CUI: C0265290
Disease: Metaphyseal chondrodysplasia
Metaphyseal chondrodysplasia 		0.100 Biomarker disease HPO
CUI: C0349588
Disease: Short stature
Short stature 		0.100 Biomarker phenotype HPO
CUI: C0426901
Disease: Short leg
Short leg 		0.100 Biomarker phenotype HPO
CUI: C0520947
Disease: Clumsiness - motor delay
Clumsiness - motor delay 		0.100 Biomarker disease HPO
CUI: C0541764
Disease: Delayed bone age
Delayed bone age 		0.100 Biomarker phenotype HPO
CUI: C0544755
Disease: Genu varum
Genu varum 		0.100 Biomarker phenotype HPO