Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 6399
Gene Symbol: TRAPPC2
TRAPPC2 		0.800 Biomarker disease GENOMICS_ENGLAND
Entrez Id: 6399
Gene Symbol: TRAPPC2
TRAPPC2 		0.800 GeneticVariation disease CLINVAR
Entrez Id: 6399
Gene Symbol: TRAPPC2
TRAPPC2 		0.800 Biomarker disease CTD_human
Entrez Id: 50964
Gene Symbol: SOST
SOST 		0.300 Biomarker disease CTD_human
Entrez Id: 6399
Gene Symbol: TRAPPC2
TRAPPC2 		0.800 GeneticVariation disease BEFREE X-linked spondyloepiphyseal dysplasia tarda: a novel SEDL mutation in a Jewish Ashkenazi family and clinical intervention considerations. 14755465 2004
Entrez Id: 10597
Gene Symbol: TRAPPC2B
TRAPPC2B 		0.100 GeneticVariation disease BEFREE X-linked spondyloepiphyseal dysplasia tarda: a novel SEDL mutation in a Jewish Ashkenazi family and clinical intervention considerations. 14755465 2004
Entrez Id: 6399
Gene Symbol: TRAPPC2
TRAPPC2 		0.800 GeneticVariation disease BEFREE SEDLIN mutations have been observed in SEDT patients, and we have undertaken studies to characterize such mutations in four unrelated SEDT kindreds by DNA sequence analysis. 11443194 2001
Entrez Id: 10597
Gene Symbol: TRAPPC2B
TRAPPC2B 		0.100 GeneticVariation disease BEFREE SEDLIN mutations have been observed in SEDT patients, and we have undertaken studies to characterize such mutations in four unrelated SEDT kindreds by DNA sequence analysis. 11443194 2001
Entrez Id: 6399
Gene Symbol: TRAPPC2
TRAPPC2 		0.800 GeneticVariation disease BEFREE A trs20 mutation that mimics an SEDT-causing mutation blocks selective and non-selective autophagy: a model for TRAPP III organization. 23898804 2013
Entrez Id: 10597
Gene Symbol: TRAPPC2B
TRAPPC2B 		0.100 GeneticVariation disease BEFREE A trs20 mutation that mimics an SEDT-causing mutation blocks selective and non-selective autophagy: a model for TRAPP III organization. 23898804 2013
Entrez Id: 6399
Gene Symbol: TRAPPC2
TRAPPC2 		0.800 GeneticVariation disease UNIPROT A missense mutation in the SEDL gene results in delayed onset of X linked spondyloepiphyseal dysplasia in a large pedigree. 11424925 2001
Entrez Id: 1297
Gene Symbol: COL9A1
COL9A1 		0.300 Biomarker disease CTD_human A mutation in COL9A1 causes multiple epiphyseal dysplasia: further evidence for locus heterogeneity. 11565064 2001
Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1 		0.310 Biomarker disease CTD_human A mutation in the amino-terminal end of the triple helix of type II collagen causing severe osteochondrodysplasia. 8486375 1993
Entrez Id: 1297
Gene Symbol: COL9A1
COL9A1 		0.300 Biomarker disease CTD_human A new autosomal recessive form of Stickler syndrome is caused by a mutation in the COL9A1 gene. 16909383 2006
Entrez Id: 6399
Gene Symbol: TRAPPC2
TRAPPC2 		0.800 GeneticVariation disease BEFREE A novel insertion mutation in the SEDL gene results in X-linked spondyloepiphyseal dysplasia tarda in a large Chinese pedigree. 19766614 2009
Entrez Id: 10597
Gene Symbol: TRAPPC2B
TRAPPC2B 		0.100 GeneticVariation disease BEFREE A novel insertion mutation in the SEDL gene results in X-linked spondyloepiphyseal dysplasia tarda in a large Chinese pedigree. 19766614 2009
Entrez Id: 6399
Gene Symbol: TRAPPC2
TRAPPC2 		0.800 GeneticVariation disease BEFREE A novel nonsense mutation of the sedlin gene in a family with spondyloepiphyseal dysplasia tarda. 12446987 2002
Entrez Id: 10597
Gene Symbol: TRAPPC2B
TRAPPC2B 		0.100 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 		0.800 GeneticVariation disease BEFREE A novel splicing mutation in the SEDL gene causes spondyloepiphyseal dysplasia tarda in a large Chinese pedigree. 23876379 2013
Entrez Id: 10597
Gene Symbol: TRAPPC2B
TRAPPC2B 		0.100 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 		0.800 GeneticVariation disease BEFREE A recurrent RNA-splicing mutation in the SEDL gene causes X-linked spondyloepiphyseal dysplasia tarda. 11326333 2001
Entrez Id: 10597
Gene Symbol: TRAPPC2B
TRAPPC2B 		0.100 GeneticVariation disease BEFREE A recurrent RNA-splicing mutation in the SEDL gene causes X-linked spondyloepiphyseal dysplasia tarda. 11326333 2001
Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1 		0.310 GeneticVariation disease BEFREE A single base mutation in the type II procollagen gene (COL2A1) that converts glycine alpha 1-247 to serine in a family with late-onset spondyloepiphyseal dysplasia. 8019561 1994
Entrez Id: 6399
Gene Symbol: TRAPPC2
TRAPPC2 		0.800 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: 10597
Gene Symbol: TRAPPC2B
TRAPPC2B 		0.100 GeneticVariation disease BEFREE A single nucleotide deletion of 293delT in SEDL gene causing spondyloepiphyseal dysplasia tarda in a four-generation Chinese family. 12650905 2003