Source: INFERRED

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1
CUI: C2745959
Disease: Spondyloepiphyseal dysplasia, congenita
Spondyloepiphyseal dysplasia, congenita 		1.000 CausalMutation CLINVAR Use of Targeted Exome Sequencing for Molecular Diagnosis of Skeletal Disorders. 26380986

2015
Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1
CUI: C0220685
Disease: Achondrogenesis type 2
Achondrogenesis type 2 		1.000 CausalMutation CLINVAR

Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1
CUI: C0220685
Disease: Achondrogenesis type 2
Achondrogenesis type 2 		1.000 GeneticVariation CLINVAR

Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1
CUI: C2745959
Disease: Spondyloepiphyseal dysplasia, congenita
Spondyloepiphyseal dysplasia, congenita 		1.000 GeneticVariation CLINVAR

Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1
CUI: C0265279
Disease: Kniest dysplasia
Kniest dysplasia 		0.800 GeneticVariation CLINVAR Novel splice (IVS18+1G>C) mutation in COL2A1 causing Kniest dysplasia. 23188137

2013
Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1
CUI: C0265279
Disease: Kniest dysplasia
Kniest dysplasia 		0.800 CausalMutation CLINVAR

Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1
CUI: C2020284
Disease: Stickler syndrome, type 1
Stickler syndrome, type 1 		0.800 GeneticVariation CLINVAR

Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1
CUI: C2020284
Disease: Stickler syndrome, type 1
Stickler syndrome, type 1 		0.800 CausalMutation CLINVAR

Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1
CUI: C0796173
Disease: Spondyloperipheral dysplasia short ulna
Spondyloperipheral dysplasia short ulna 		0.750 GeneticVariation CLINVAR Double heterozygosity for pseudoachondroplasia and spondyloepiphyseal dysplasia congenita. 11746045

2001
Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1
CUI: C0796173
Disease: Spondyloperipheral dysplasia short ulna
Spondyloperipheral dysplasia short ulna 		0.750 CausalMutation CLINVAR

Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1
CUI: C0023234
Disease: Legg-Calve-Perthes Disease
Legg-Calve-Perthes Disease 		0.740 Biomarker HPO

Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1
CUI: C0023234
Disease: Legg-Calve-Perthes Disease
Legg-Calve-Perthes Disease 		0.740 CausalMutation CLINVAR

Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1
CUI: C0700635
Disease: Strudwick syndrome
Strudwick syndrome 		0.730 CausalMutation CLINVAR

Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1
CUI: C0700635
Disease: Strudwick syndrome
Strudwick syndrome 		0.730 Biomarker HPO

Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1
CUI: C1835437
Disease: Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type 		0.730 CausalMutation CLINVAR

Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1
CUI: C1836683
Disease: Czech dysplasia, metatarsal type
Czech dysplasia, metatarsal type 		0.730 CausalMutation CLINVAR

Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1
CUI: C1836080
Disease: Stickler Syndrome, Type I, Nonsyndromic Ocular
Stickler Syndrome, Type I, Nonsyndromic Ocular 		0.710 CausalMutation CLINVAR

Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1
CUI: C4225273
Disease: SPONDYLOEPIPHYSEAL DYSPLASIA, STANESCU TYPE
SPONDYLOEPIPHYSEAL DYSPLASIA, STANESCU TYPE 		0.710 CausalMutation CLINVAR

Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1
CUI: C0432214
Disease: Namaqualand hip dysplasia
Namaqualand hip dysplasia 		0.700 CausalMutation CLINVAR

Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1
CUI: C1851536
Disease: Epiphyseal Dysplasia, Multiple, with Myopia and Conductive Deafness
Epiphyseal Dysplasia, Multiple, with Myopia and Conductive Deafness 		0.700 CausalMutation CLINVAR

Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1
CUI: C4551562
Disease: AVASCULAR NECROSIS OF FEMORAL HEAD, PRIMARY, 1
AVASCULAR NECROSIS OF FEMORAL HEAD, PRIMARY, 1 		0.700 GeneticVariation CLINVAR

Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1
CUI: C4551562
Disease: AVASCULAR NECROSIS OF FEMORAL HEAD, PRIMARY, 1
AVASCULAR NECROSIS OF FEMORAL HEAD, PRIMARY, 1 		0.700 CausalMutation CLINVAR

Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1
CUI: C0542428
Disease: Hypochondrogenesis
Hypochondrogenesis 		0.660 CausalMutation CLINVAR

Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1
CUI: C0008925
Disease: Cleft Palate
Cleft Palate 		0.640 Biomarker HPO

Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1
CUI: C4520892
Disease: Otospondylomegaepiphyseal dysplasia
Otospondylomegaepiphyseal dysplasia 		0.610 CausalMutation CLINVAR