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 		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 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 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 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 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 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 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 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 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: 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: 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: 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: rs121964863
rs121964863
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 		T 0.810 CausalMutation CLINVAR
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: 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
dbSNP: rs7512080
rs7512080
Entrez Id: 4921
Gene Symbol: DDR2
DDR2
CUI: C0346388
Disease:
Malignant melanoma of choroid 		G 0.700 GeneticVariation GWASCAT Genome-wide study on uveal melanoma patients finds association to DNA repair gene TDP1. 31626034 2020
dbSNP: rs2806424
rs2806424
Entrez Id: 4921
Gene Symbol: DDR2
DDR2
CUI: C0023508
Disease:
White Blood Cell Count procedure 		0.700 GeneticVariation GWASCAT Genetic analyses of diverse populations improves discovery for complex traits. 31217584 2019
dbSNP: rs6697469
rs6697469
Entrez Id: 4921
Gene Symbol: DDR2
DDR2
CUI: C0005890
Disease:
Body Height 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs6702820
rs6702820
Entrez Id: 4921
Gene Symbol: DDR2
DDR2
CUI: C0005890
Disease:
Body Height 		0.700 GeneticVariation GWASCAT Characterizing rare and low-frequency height-associated variants in the Japanese population. 31562340 2019
dbSNP: rs17433710
rs17433710
Entrez Id: 4921
Gene Symbol: DDR2
DDR2
CUI: C0013312
Disease:
Dupuytren Contracture 		0.700 GeneticVariation GWASCAT A Genome-wide Association Study of Dupuytren Disease Reveals 17 Additional Variants Implicated in Fibrosis. 28886342 2017
dbSNP: rs267598140
rs267598140
Entrez Id: 4921
Gene Symbol: DDR2
DDR2
CUI: C0007137
Disease:
Squamous cell carcinoma 		A 0.700 CausalMutation CLINVAR Response to dasatinib in a patient with SQCC of the lung harboring a discoid-receptor-2 and synchronous chronic myelogenous leukemia. 23932362 2013