COL2A1, collagen type II alpha 1 chain, 1280

N. diseases: 496; N. variants: 96
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0220685
Disease: Achondrogenesis type 2
Achondrogenesis type 2 		1.000 Biomarker disease GENOMICS_ENGLAND
CUI: C0220685
Disease: Achondrogenesis type 2
Achondrogenesis type 2 		1.000 CausalMutation disease CLINVAR
CUI: C0220685
Disease: Achondrogenesis type 2
Achondrogenesis type 2 		1.000 GeneticVariation disease CLINVAR
CUI: C2745959
Disease: Spondyloepiphyseal dysplasia, congenita
Spondyloepiphyseal dysplasia, congenita 		1.000 Biomarker disease CTD_human
CUI: C2745959
Disease: Spondyloepiphyseal dysplasia, congenita
Spondyloepiphyseal dysplasia, congenita 		1.000 GeneticVariation disease CLINVAR
CUI: C0265279
Disease: Kniest dysplasia
Kniest dysplasia 		0.800 CausalMutation disease CLINVAR
CUI: C2020284
Disease: Stickler syndrome, type 1
Stickler syndrome, type 1 		0.800 GeneticVariation disease CLINVAR
CUI: C2020284
Disease: Stickler syndrome, type 1
Stickler syndrome, type 1 		0.800 CausalMutation disease CLINVAR
CUI: C2020284
Disease: Stickler syndrome, type 1
Stickler syndrome, type 1 		0.800 GermlineCausalMutation disease ORPHANET
CUI: C2020284
Disease: Stickler syndrome, type 1
Stickler syndrome, type 1 		0.800 Biomarker disease CTD_human
CUI: C0796173
Disease: Spondyloperipheral dysplasia short ulna
Spondyloperipheral dysplasia short ulna 		0.750 Biomarker disease CTD_human
CUI: C0796173
Disease: Spondyloperipheral dysplasia short ulna
Spondyloperipheral dysplasia short ulna 		0.750 CausalMutation disease CLINVAR
CUI: C0796173
Disease: Spondyloperipheral dysplasia short ulna
Spondyloperipheral dysplasia short ulna 		0.750 Biomarker disease GENOMICS_ENGLAND
CUI: C0023234
Disease: Legg-Calve-Perthes Disease
Legg-Calve-Perthes Disease 		0.740 Biomarker disease HPO
CUI: C0023234
Disease: Legg-Calve-Perthes Disease
Legg-Calve-Perthes Disease 		0.740 Biomarker disease GENOMICS_ENGLAND
CUI: C0023234
Disease: Legg-Calve-Perthes Disease
Legg-Calve-Perthes Disease 		0.740 Biomarker disease GENOMICS_ENGLAND
CUI: C0023234
Disease: Legg-Calve-Perthes Disease
Legg-Calve-Perthes Disease 		0.740 Biomarker disease CTD_human
CUI: C0023234
Disease: Legg-Calve-Perthes Disease
Legg-Calve-Perthes Disease 		0.740 Biomarker disease GENOMICS_ENGLAND
CUI: C0023234
Disease: Legg-Calve-Perthes Disease
Legg-Calve-Perthes Disease 		0.740 CausalMutation disease CLINVAR
CUI: C0700635
Disease: Strudwick syndrome
Strudwick syndrome 		0.730 Biomarker disease GENOMICS_ENGLAND
CUI: C0700635
Disease: Strudwick syndrome
Strudwick syndrome 		0.730 CausalMutation disease CLINVAR
CUI: C0700635
Disease: Strudwick syndrome
Strudwick syndrome 		0.730 Biomarker disease CTD_human
CUI: C0700635
Disease: Strudwick syndrome
Strudwick syndrome 		0.730 Biomarker disease HPO
CUI: C1835437
Disease: Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type 		0.730 CausalMutation disease CLINVAR
CUI: C1835437
Disease: Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type 		0.730 Biomarker disease CTD_human