Gene: TRAPPC2 ×
Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 6399
Gene Symbol: TRAPPC2
TRAPPC2 		0.700 GeneticVariation disease BEFREE A novel nonsense mutation in the sedlin gene (SEDL) causes severe spondyloepiphyseal dysplasia tarda in a five-generation Chinese pedigree. 24841781 2014
Entrez Id: 6399
Gene Symbol: TRAPPC2
TRAPPC2 		0.700 GeneticVariation disease BEFREE A novel splicing mutation in the SEDL gene causes spondyloepiphyseal dysplasia tarda in a large Chinese pedigree. 23876379 2013
Entrez Id: 6399
Gene Symbol: TRAPPC2
TRAPPC2 		0.700 GeneticVariation disease BEFREE Molecular basis for SEDL has been elucidated by the identification of various mutations (currently >30) in the SEDL gene from Xp22 region. 12939648 2003
Entrez Id: 6399
Gene Symbol: TRAPPC2
TRAPPC2 		0.700 GeneticVariation disease BEFREE A single nucleotide deletion of 293delT in SEDL gene causing spondyloepiphyseal dysplasia tarda in a four-generation Chinese family. 12650905 2003
Entrez Id: 6399
Gene Symbol: TRAPPC2
TRAPPC2 		0.700 Biomarker disease BEFREE Crystal structure of SEDL and its implications for a genetic disease spondyloepiphyseal dysplasia tarda. 12361953 2002
Entrez Id: 6399
Gene Symbol: TRAPPC2
TRAPPC2 		0.700 GeneticVariation disease BEFREE A novel nonsense mutation of the sedlin gene in a family with spondyloepiphyseal dysplasia tarda. 12446987 2002
Entrez Id: 6399
Gene Symbol: TRAPPC2
TRAPPC2 		0.700 Biomarker disease BEFREE The sedlin gene for spondyloepiphyseal dysplasia tarda escapes X-inactivation and contains a non-canonical splice site. 11595175 2001
Entrez Id: 6399
Gene Symbol: TRAPPC2
TRAPPC2 		0.700 GeneticVariation disease BEFREE The X-linked form of spondyloepiphyseal dysplasia tarda (SEDL), a radiologically distinct skeletal dysplasia affecting the vertebrae and epiphyses, is caused by mutations in the SEDL gene. 11349230 2001
Entrez Id: 6399
Gene Symbol: TRAPPC2
TRAPPC2 		0.700 GeneticVariation disease BEFREE A five-base pair deletion in the sedlin gene causes spondyloepiphyseal dysplasia tarda in a six-generation Arkansas kindred. 10999831 2000
Entrez Id: 6399
Gene Symbol: TRAPPC2
TRAPPC2 		0.700 Biomarker disease BEFREE Based on the knowledge of the yeast SEDL ortholog we speculated that the SEDL protein may participate along the ER-to-Golgi transport compartments. 11031107 2000
Entrez Id: 6399
Gene Symbol: TRAPPC2
TRAPPC2 		0.700 Biomarker disease CTD_human
Entrez Id: 6399
Gene Symbol: TRAPPC2
TRAPPC2 		0.700 Biomarker disease HPO
Entrez Id: 6399
Gene Symbol: TRAPPC2
TRAPPC2 		0.700 Biomarker disease GENOMICS_ENGLAND