Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Spondyloperipheral dysplasia short ulna
0.750 GeneticVariation disease BEFREE Identification of one novel mutation in the C-propeptide of COL2A1 in a Chinese family with spondyloperipheral dysplasia. 23545312 2013
Spondyloperipheral dysplasia short ulna
0.750 GermlineCausalMutation disease ORPHANET Identification of one novel mutation in the C-propeptide of COL2A1 in a Chinese family with spondyloperipheral dysplasia. 23545312 2013
Spondyloperipheral dysplasia short ulna
0.750 GeneticVariation disease BEFREE Spondyloperipheral dysplasia as the mosaic form of platyspondylic lethal skeletal dyplasia torrance type in mother and fetus with the same COL2A1 mutation. 22495950 2012
Spondyloperipheral dysplasia short ulna
0.750 Biomarker disease GENOMICS_ENGLAND Pseudoachondroplasia and multiple epiphyseal dysplasia: a 7-year comprehensive analysis of the known disease genes identify novel and recurrent mutations and provides an accurate assessment of their relative contribution. 21922596 2012
Spondyloperipheral dysplasia short ulna
0.750 GeneticVariation disease BEFREE Prenatal manifestation and management of a mother and child affected by spondyloperipheral dysplasia with a C-propeptide mutation in COL2A1: case report. 21356074 2011
Spondyloperipheral dysplasia short ulna
0.750 Biomarker disease GENOMICS_ENGLAND Spondyloperipheral dysplasia is caused by truncating mutations in the C-propeptide of COL2A1. 15316962 2004
Spondyloperipheral dysplasia short ulna
0.750 GermlineCausalMutation disease ORPHANET Spondyloperipheral dysplasia is caused by truncating mutations in the C-propeptide of COL2A1. 15316962 2004
Spondyloperipheral dysplasia short ulna
0.750 GeneticVariation disease BEFREE These manifestations overlap with those of spondyloperipheral dysplasia (SPD), in which a sporadic case with a mutation of COL2A1 has been reported. 12884428 2003
Spondyloperipheral dysplasia short ulna
0.750 GeneticVariation disease CLINVAR Double heterozygosity for pseudoachondroplasia and spondyloepiphyseal dysplasia congenita. 11746045 2001
Spondyloperipheral dysplasia short ulna
0.750 GeneticVariation disease BEFREE A specific collagen type II gene (COL2A1) mutation presenting as spondyloperipheral dysplasia. 8723097 1996
Spondyloperipheral dysplasia short ulna
0.750 Biomarker disease GENOMICS_ENGLAND Identification of the molecular defect in a family with spondyloepiphyseal dysplasia. 2543071 1989
Spondyloperipheral dysplasia short ulna
0.750 Biomarker disease CTD_human
Spondyloperipheral dysplasia short ulna
0.750 CausalMutation disease CLINVAR
Spondyloperipheral dysplasia short ulna
0.750 Biomarker disease GENOMICS_ENGLAND