rs121912889, COL2A1

N. diseases: 4
Disease: Platyspondylic Lethal Skeletal Dysplasia, Torrance Type ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
CUI: C1835437
Disease: Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
0.800 GeneticVariation UNIPROT Dominant negative mutations in the C-propeptide of COL2A1 cause platyspondylic lethal skeletal dysplasia, torrance type, and define a novel subfamily within the type 2 collagenopathies. 15643621 2005
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
CUI: C1835437
Disease: Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
0.800 GeneticVariation UNIPROT Identification of COL2A1 mutations in platyspondylic skeletal dysplasia, Torrance type. 14729840 2004
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
CUI: C1835437
Disease: Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
0.800 GeneticVariation UNIPROT Report of five novel and one recurrent COL2A1 mutations with analysis of genotype-phenotype correlation in patients with a lethal type II collagen disorder. 10745044 2000
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
CUI: C1835437
Disease: Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
0.800 CausalMutation CLINVAR