Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE
0.730 GeneticVariation disease BEFREE We report on a 5-year-old girl with the classic phenotype of SMED, SL-AC in whom a novel homozygous nonsense mutation in DDR2 was detected using exome sequencing. 29884795 2018
SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE
0.730 GeneticVariation disease BEFREE We report here a novel DDR2 missense mutation, c.370C > T (p.Arg124Trp) in a Moroccan girl with SMED, SL-AC, identified by whole exome sequencing. 26463668 2016
SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE
0.730 GeneticVariation disease UNIPROT We report here a novel DDR2 missense mutation, c.370C > T (p.Arg124Trp) in a Moroccan girl with SMED, SL-AC, identified by whole exome sequencing. 26463668 2016
SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE
0.730 GeneticVariation disease UNIPROT Another DDR2 missense mutation, c.2254C>T (p.R752C), matching one of the previously reported SMED-SL mutations, was found in a second affected family. 20223752 2010
SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE
0.730 GeneticVariation disease BEFREE Another DDR2 missense mutation, c.2254C>T (p.R752C), matching one of the previously reported SMED-SL mutations, was found in a second affected family. 20223752 2010
SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE
0.730 GermlineCausalMutation disease ORPHANET Mutations in DDR2 gene cause SMED with short limbs and abnormal calcifications. 19110212 2009
SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE
0.730 GeneticVariation disease UNIPROT Mutations in DDR2 gene cause SMED with short limbs and abnormal calcifications. 19110212 2009
SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE
0.730 Biomarker disease GENOMICS_ENGLAND Spondylo-meta-epiphyseal dysplasia (SMED), short limb-hand type: a congenital familial skeletal dysplasia with distinctive features and histopathology. 8434618 1993
SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE
0.730 CausalMutation disease CLINVAR
SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE
0.730 Biomarker disease CTD_human
CUI: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma
0.500 GeneticVariation disease 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
CUI: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma
0.500 Biomarker disease BEFREE Our data indicate that DDR2 is a potent biomarker that can be used as an effective therapeutic target for treating OSCC patients with lymph node metastasis. 29945346 2018
CUI: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma
0.500 GeneticVariation disease BEFREE We identified novel somatic mutations of DDR2 in two of the 100 SCC samples studied. 28161936 2017
CUI: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma
0.500 GeneticVariation disease BEFREE Furthermore we found potentially targetable DDR2 mutations at a frequency of 3% in both adenocarcinomas and squamous cell carcinomas. 26102443 2015
CUI: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma
0.500 GeneticVariation disease BEFREE Our results highlight potential RTK-driven adaptive-resistant mechanisms upon DDR2 targeting, and they suggest new, rationale cotargeting strategies for DDR2-mutant lung SCC. 25348954 2014
CUI: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma
0.500 Biomarker disease BEFREE This article summarizes the current state of knowledge of DDR2 biology and signaling in lung squamous cell cancer. 24828669 2014
CUI: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma
0.500 AlteredExpression disease BEFREE Expression of DDR2 mRNA was analyzed in 54 lung SCC tissues by qRT-PCR. 24885564 2014
CUI: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma
0.500 CausalMutation disease CLINVAR Response to dasatinib in a patient with SQCC of the lung harboring a discoid-receptor-2 and synchronous chronic myelogenous leukemia. 23932362 2013
CUI: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma
0.500 GeneticVariation disease BEFREE We report a patient with squamous cell carcinoma (SQCC) of the lung and a discoid-receptor-2 (DDR2) kinase domain mutation that responded to dasatinib treatment. 23932362 2013
CUI: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma
0.500 GeneticVariation disease 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
CUI: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma
0.500 Biomarker disease BEFREE DDR2 and FGFR2 only presented in smokers with SCC (4.4% and 2.2%, respectively). 22768234 2012
CUI: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma
0.500 CausalMutation disease CLINVAR Mutations in the DDR2 kinase gene identify a novel therapeutic target in squamous cell lung cancer. 22328973 2011
CUI: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma
0.500 CausalMutation disease CLINVAR Inhibition of collagen-induced discoidin domain receptor 1 and 2 activation by imatinib, nilotinib and dasatinib. 18938156 2008
CUI: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma
0.500 CausalMutation disease CGI
CUI: C0149782
Disease: Squamous cell carcinoma of lung
Squamous cell carcinoma of lung
0.490 Biomarker disease BEFREE We conducted further optimization of dual enzymatic inhibitions towards FGFR1 and DDR2, two important kinases in lung squamous cell carcinoma. 30572178 2019