Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121964863
rs121964863
Entrez Id: 4921
Gene Symbol: DDR2
DDR2
CUI: C1849011
Disease:
SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE 		T 0.810 CausalMutation CLINVAR
dbSNP: rs121964863
rs121964863
Entrez Id: 4921
Gene Symbol: DDR2
DDR2
CUI: C1849011
Disease:
SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE 		0.810 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: rs121964863
rs121964863
Entrez Id: 4921
Gene Symbol: DDR2
DDR2
CUI: C1849011
Disease:
SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE 		0.810 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: rs121964863
rs121964863
Entrez Id: 4921
Gene Symbol: DDR2
DDR2
CUI: C1849011
Disease:
SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE 		0.810 GeneticVariation UNIPROT Mutations in DDR2 gene cause SMED with short limbs and abnormal calcifications. 19110212 2009
dbSNP: rs121964863
rs121964863
Entrez Id: 4921
Gene Symbol: DDR2
DDR2
CUI: C1849011
Disease:
SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE 		0.810 GeneticVariation BEFREE 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: rs121964865
rs121964865
Entrez Id: 4921
Gene Symbol: DDR2
DDR2
CUI: C1849011
Disease:
SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE 		0.810 GeneticVariation UNIPROT Mutations in DDR2 gene cause SMED with short limbs and abnormal calcifications. 19110212 2009
dbSNP: rs121964865
rs121964865
Entrez Id: 4921
Gene Symbol: DDR2
DDR2
CUI: C1849011
Disease:
SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE 		0.810 GeneticVariation BEFREE 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: rs121964865
rs121964865
Entrez Id: 4921
Gene Symbol: DDR2
DDR2
CUI: C1849011
Disease:
SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE 		T 0.810 CausalMutation CLINVAR
dbSNP: rs121964865
rs121964865
Entrez Id: 4921
Gene Symbol: DDR2
DDR2
CUI: C1849011
Disease:
SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE 		0.810 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: rs121964865
rs121964865
Entrez Id: 4921
Gene Symbol: DDR2
DDR2
CUI: C1849011
Disease:
SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE 		0.810 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: rs397514747
rs397514747
Entrez Id: 4921
Gene Symbol: DDR2
DDR2
CUI: C1849011
Disease:
SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE 		0.810 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: rs397514747
rs397514747
Entrez Id: 4921
Gene Symbol: DDR2
DDR2
CUI: C1849011
Disease:
SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE 		0.810 GeneticVariation UNIPROT Here we report a novel DDR2 missense mutation, c.337G>A (p.E113K), that causes SMED-SL in two siblings in the United Arab Emirates. 20223752 2010
dbSNP: rs397514747
rs397514747
Entrez Id: 4921
Gene Symbol: DDR2
DDR2
CUI: C1849011
Disease:
SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE 		A 0.810 CausalMutation CLINVAR
dbSNP: rs397514747
rs397514747
Entrez Id: 4921
Gene Symbol: DDR2
DDR2
CUI: C1849011
Disease:
SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE 		0.810 GeneticVariation BEFREE Here we report a novel DDR2 missense mutation, c.337G>A (p.E113K), that causes SMED-SL in two siblings in the United Arab Emirates. 20223752 2010
dbSNP: rs397514747
rs397514747
Entrez Id: 4921
Gene Symbol: DDR2
DDR2
CUI: C1849011
Disease:
SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE 		0.810 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 		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 		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 		G 0.800 CausalMutation CLINVAR
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: rs1057519789
rs1057519789
Entrez Id: 4921
Gene Symbol: DDR2
DDR2
CUI: C0149782
Disease:
Squamous cell carcinoma of lung 		T 0.700 GeneticVariation CLINVAR Mutations in the DDR2 kinase gene identify a novel therapeutic target in squamous cell lung cancer. 22328973 2011
dbSNP: rs1057519790
rs1057519790
Entrez Id: 4921
Gene Symbol: DDR2
DDR2
CUI: C0149782
Disease:
Squamous cell carcinoma of lung 		T 0.700 GeneticVariation CLINVAR Mutations in the DDR2 kinase gene identify a novel therapeutic target in squamous cell lung cancer. 22328973 2011
dbSNP: rs10917587
rs10917587
Entrez Id: 4921
Gene Symbol: DDR2
DDR2
CUI: C0023508
Disease:
White Blood Cell Count procedure 		0.700 GeneticVariation GWASDB Genome-wide association study of white blood cell count in 16,388 African Americans: the continental origins and genetic epidemiology network (COGENT). 21738479 2011
dbSNP: rs144594252
rs144594252
Entrez Id: 4921
Gene Symbol: DDR2
DDR2
CUI: C0149782
Disease:
Squamous cell carcinoma of lung 		G 0.700 GeneticVariation CLINVAR Mutations in the DDR2 kinase gene identify a novel therapeutic target in squamous cell lung cancer. 22328973 2011
dbSNP: rs1558079436
rs1558079436
Entrez Id: 4921
Gene Symbol: DDR2
DDR2
CUI: C4024579
Disease:
Osteolysis involving bones of the feet 		C 0.700 CausalMutation CLINVAR
dbSNP: rs1558079436
rs1558079436
Entrez Id: 4921
Gene Symbol: DDR2
DDR2
CUI: C3149494
Disease:
KELOID FORMATION 		C 0.700 CausalMutation CLINVAR