Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1558079436
rs1558079436
Entrez Id: 4921
Gene Symbol: DDR2
DDR2
CUI: C0158113
Disease:
Contracture of joint of hand
C 0.700 CausalMutation CLINVAR
dbSNP: rs1558081627
rs1558081627
Entrez Id: 4921
Gene Symbol: DDR2
DDR2
CUI: C3149494
Disease:
KELOID FORMATION
G 0.700 CausalMutation CLINVAR
dbSNP: rs1558081627
rs1558081627
Entrez Id: 4921
Gene Symbol: DDR2
DDR2
CUI: C0158113
Disease:
Contracture of joint of hand
G 0.700 CausalMutation CLINVAR
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: rs1780007
rs1780007
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: 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
dbSNP: rs267598140
rs267598140
Entrez Id: 4921
Gene Symbol: DDR2
DDR2
CUI: C0007137
Disease:
Squamous cell carcinoma
A 0.700 CausalMutation CLINVAR Inhibition of collagen-induced discoidin domain receptor 1 and 2 activation by imatinib, nilotinib and dasatinib. 18938156 2008
dbSNP: rs267598140
rs267598140
Entrez Id: 4921
Gene Symbol: DDR2
DDR2
CUI: C0007137
Disease:
Squamous cell carcinoma
A 0.700 CausalMutation CLINVAR Mutations in the DDR2 kinase gene identify a novel therapeutic target in squamous cell lung cancer. 22328973 2011
dbSNP: rs2684866
rs2684866
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: rs2805025
rs2805025
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: 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: rs376303676
rs376303676
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: rs578015216
rs578015216
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: 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: 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: rs115169993
rs115169993
Entrez Id: 4921
Gene Symbol: DDR2
DDR2
CUI: C0007137
Disease:
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
Entrez Id: 4921
Gene Symbol: DDR2
DDR2
CUI: C0007137
Disease:
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
Entrez Id: 4921
Gene Symbol: DDR2
DDR2
CUI: C0152013
Disease:
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: rs201701502
rs201701502
Entrez Id: 4921
Gene Symbol: DDR2
DDR2
CUI: C1269955
Disease:
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
Entrez Id: 4921
Gene Symbol: DDR2
DDR2
CUI: C0153676
Disease:
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
Entrez Id: 4921
Gene Symbol: DDR2
DDR2
CUI: C0751688
Disease:
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
Entrez Id: 4921
Gene Symbol: DDR2
DDR2
CUI: C0007137
Disease:
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: rs201701502
rs201701502
Entrez Id: 4921
Gene Symbol: DDR2
DDR2
CUI: C0149782
Disease:
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: rs267598140
rs267598140
Entrez Id: 4921
Gene Symbol: DDR2
DDR2
CUI: C0007131
Disease:
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