Disease: SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121964864
rs121964864
Entrez Id: 4921
Gene Symbol: DDR2
DDR2
CUI: C1849011
Disease:
SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE 		0.800 GeneticVariation UNIPROT Novel DDR2 mutation identified by whole exome sequencing in a Moroccan patient with spondylo-meta-epiphyseal dysplasia, short limb-abnormal calcification type. 26463668 2016
dbSNP: rs121964864
rs121964864
Entrez Id: 4921
Gene Symbol: DDR2
DDR2
CUI: C1849011
Disease:
SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE 		0.800 GeneticVariation UNIPROT We found that all SMED-SL missense mutants were defective in collagen-induced receptor activation and that the three previously reported mutants (p.T713I, p.I726R and p.R752C) were retained in the endoplasmic reticulum. 20223752 2010
dbSNP: rs121964864
rs121964864
Entrez Id: 4921
Gene Symbol: DDR2
DDR2
CUI: C1849011
Disease:
SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE 		0.800 GeneticVariation UNIPROT Mutations in DDR2 gene cause SMED with short limbs and abnormal calcifications. 19110212 2009
dbSNP: rs121964864
rs121964864
Entrez Id: 4921
Gene Symbol: DDR2
DDR2
CUI: C1849011
Disease:
SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE 		G 0.800 CausalMutation CLINVAR