Source: BEFREE

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121964863
rs121964863
DDR2
CUI: C1849011
Disease: SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE
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
DDR2
CUI: C1849011
Disease: SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE
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: rs397514747
rs397514747
DDR2
CUI: C1849011
Disease: SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE
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: rs115169993
rs115169993
DDR2
CUI: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma 		0.010 GeneticVariation BEFREE Targeted proteomic profiling of a panel of lung SCC (squamous cell carcinoma) DDR2 mutants demonstrated that SHP-2 is tyrosine-phosphorylated by the L63V and G505S mutants. 23822953

2013
dbSNP: rs144594252
rs144594252
DDR2
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder) 		0.010 GeneticVariation BEFREE DDR2(L63V);TP53(L/L) mice developed poorly differentiated lung adenocarcinomas in all transgenic animals analyzed with a latency of 40 to 50 weeks and a median survival of 67.5 weeks. 26206333

2015
dbSNP: rs144594252
rs144594252
DDR2
CUI: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma 		0.010 GeneticVariation BEFREE Targeted proteomic profiling of a panel of lung SCC (squamous cell carcinoma) DDR2 mutants demonstrated that SHP-2 is tyrosine-phosphorylated by the L63V and G505S mutants. 23822953

2013
dbSNP: rs201701502
rs201701502
DDR2
CUI: C0149782
Disease: Squamous cell carcinoma of lung
Squamous cell carcinoma of lung 		0.010 GeneticVariation BEFREE A mutation (T681I) identified in lung SQCC and the cell line EBC-1 was detected among 44 primary lung SQCC samples and 7 lung SQCC cell lines. 28676216

2017
dbSNP: rs201701502
rs201701502
DDR2
CUI: C0153676
Disease: Secondary malignant neoplasm of lung
Secondary malignant neoplasm of lung 		0.010 GeneticVariation BEFREE Although Forced expression of DDR2 and its mutant (T681I) led to induce SQCC cell invasion in vitro, only wild type DDR2 enhanced lung metastasis in an animal model. 28676216

2017
dbSNP: rs201701502
rs201701502
DDR2
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion 		0.010 GeneticVariation BEFREE Although Forced expression of DDR2 and its mutant (T681I) led to induce SQCC cell invasion in vitro, only wild type DDR2 enhanced lung metastasis in an animal model. 28676216

2017
dbSNP: rs201701502
rs201701502
DDR2
CUI: C0751688
Disease: Malignant Squamous Cell Neoplasm
Malignant Squamous Cell Neoplasm 		0.010 GeneticVariation BEFREE Moreover, there were 3 novel DDR2 mutations (G531V, S131C, T681I) in 4 patients and provide the mutation rate of 4.6% in the 86 patients with lung SCC. 24885564

2014
dbSNP: rs201701502
rs201701502
DDR2
CUI: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma 		0.010 GeneticVariation BEFREE Moreover, there were 3 novel DDR2 mutations (G531V, S131C, T681I) in 4 patients and provide the mutation rate of 4.6% in the 86 patients with lung SCC. 24885564

2014
dbSNP: rs267598140
rs267598140
DDR2
CUI: C0686377
Disease: CNS metastases
CNS metastases 		0.010 GeneticVariation BEFREE Sensitive methods for detection of the S768R substitution in exon 18 of the DDR2 gene in patients with central nervous system metastases of non-small cell lung cancer. 25173530

2014
dbSNP: rs267598140
rs267598140
DDR2
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		0.010 GeneticVariation BEFREE Sensitive methods for detection of the S768R substitution in exon 18 of the DDR2 gene in patients with central nervous system metastases of non-small cell lung cancer. 25173530

2014
dbSNP: rs765660823
rs765660823
DDR2
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		0.010 GeneticVariation BEFREE The Q808H variation in the DDR2 gene was detected in one SCC sample, while no variant was seen in the ADC and LCC subtypes. 30048458

2018
dbSNP: rs765660823
rs765660823
DDR2
CUI: C3281200
Disease: LEUKOENCEPHALOPATHY, BRAIN CALCIFICATIONS, AND CYSTS
LEUKOENCEPHALOPATHY, BRAIN CALCIFICATIONS, AND CYSTS 		0.010 GeneticVariation BEFREE The Q808H variation in the DDR2 gene was detected in one SCC sample, while no variant was seen in the ADC and LCC subtypes. 30048458

2018
dbSNP: rs765660823
rs765660823
DDR2
CUI: C0001418
Disease: Adenocarcinoma
Adenocarcinoma 		0.010 GeneticVariation BEFREE The Q808H variation in the DDR2 gene was detected in one SCC sample, while no variant was seen in the ADC and LCC subtypes. 30048458

2018
dbSNP: rs765660823
rs765660823
DDR2
CUI: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma 		0.010 GeneticVariation BEFREE The Q808H variation in the DDR2 gene was detected in one SCC sample, while no variant was seen in the ADC and LCC subtypes. 30048458

2018