Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	4921
Gene name	Discoidin domain receptor tyrosine kinase 2
Gene symbol	DDR2
Synonyms (NCBI Gene)	MIG20aNTRKR3TKTTYRO10WRCN
Chromosome	1
Chromosome location	1q23.3
Summary	This gene encodes a member of the discoidin domain receptor subclass of the receptor tyrosine kinase (RTKs) protein family. RTKs play a key role in the communication of cells with their microenvironment. The encoded protein is a collagen-induced receptor

Show/Hide all (16)

SNP ID	Visualize variation	Clinical significance	Consequence
rs115169993	G>A	Likely-pathogenic, benign, not-provided	Genic downstream transcript variant, downstream transcript variant, missense variant, coding sequence variant
rs121964863	C>T	Pathogenic	Genic downstream transcript variant, missense variant, coding sequence variant
rs121964864	T>G	Pathogenic	Genic downstream transcript variant, missense variant, coding sequence variant
rs121964865	C>A,T	Pathogenic	Genic downstream transcript variant, missense variant, coding sequence variant
rs141801107	C>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, synonymous variant
rs144594252	C>G	Likely-pathogenic, not-provided	Coding sequence variant, missense variant
rs267598140	T>A,G	Not-provided, pathogenic	Missense variant, coding sequence variant, genic downstream transcript variant
rs376303676	G>A,T	Not-provided, likely-pathogenic	Coding sequence variant, missense variant
rs397514747	G>A	Pathogenic	Coding sequence variant, missense variant
rs578015216	T>C,G	Uncertain-significance, likely-pathogenic	Coding sequence variant, missense variant
rs1057519789	A>G,T	Likely-pathogenic, not-provided	Genic downstream transcript variant, missense variant, coding sequence variant
rs1057519790	G>T	Likely-pathogenic, not-provided	Genic downstream transcript variant, missense variant, coding sequence variant
rs1558079436	T>C	Pathogenic	Missense variant, coding sequence variant, genic downstream transcript variant
rs1558081627	A>G	Pathogenic	Missense variant, coding sequence variant, genic downstream transcript variant
rs1571295161	->C	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1571325076	G>A	Pathogenic	Splice donor variant, genic downstream transcript variant

110

Show/Hide all (110)

miRTarBase ID	miRNA	Experiments	Reference
MIRT030671	hsa-miR-21-5p	Microarray	18591254
MIRT668768	hsa-miR-4687-5p	HITS-CLIP	23824327
MIRT668767	hsa-miR-6779-3p	HITS-CLIP	23824327
MIRT668766	hsa-miR-129-1-3p	HITS-CLIP	23824327
MIRT668765	hsa-miR-129-2-3p	HITS-CLIP	23824327
MIRT668764	hsa-miR-892c-5p	HITS-CLIP	23824327
MIRT668763	hsa-miR-506-5p	HITS-CLIP	23824327
MIRT668762	hsa-miR-4704-3p	HITS-CLIP	23824327
MIRT668761	hsa-miR-6756-3p	HITS-CLIP	23824327
MIRT668760	hsa-miR-454-5p	HITS-CLIP	23824327
MIRT668759	hsa-miR-4732-3p	HITS-CLIP	23824327
MIRT668758	hsa-miR-6759-3p	HITS-CLIP	23824327
MIRT668757	hsa-miR-7976	HITS-CLIP	23824327
MIRT668755	hsa-miR-6883-3p	HITS-CLIP	23824327
MIRT668756	hsa-miR-4691-5p	HITS-CLIP	23824327
MIRT668754	hsa-miR-6792-3p	HITS-CLIP	23824327
MIRT668753	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT659143	hsa-miR-645	HITS-CLIP	23824327
MIRT659142	hsa-miR-3119	HITS-CLIP	23824327
MIRT659140	hsa-miR-3125	HITS-CLIP	23824327
MIRT659141	hsa-miR-3916	HITS-CLIP	23824327
MIRT659139	hsa-miR-6859-5p	HITS-CLIP	23824327
MIRT659138	hsa-miR-302a-5p	HITS-CLIP	23824327
MIRT659137	hsa-miR-3928-3p	HITS-CLIP	23824327
MIRT659136	hsa-miR-6826-3p	HITS-CLIP	23824327
MIRT497471	hsa-miR-618	PAR-CLIP	22291592
MIRT497470	hsa-miR-519a-3p	PAR-CLIP	22291592
MIRT497469	hsa-miR-519b-3p	PAR-CLIP	22291592
MIRT497468	hsa-miR-519c-3p	PAR-CLIP	22291592
MIRT497467	hsa-miR-302a-3p	PAR-CLIP	22291592
MIRT497466	hsa-miR-302b-3p	PAR-CLIP	22291592
MIRT497465	hsa-miR-302c-3p	PAR-CLIP	22291592
MIRT497464	hsa-miR-302d-3p	PAR-CLIP	22291592
MIRT497463	hsa-miR-302e	PAR-CLIP	22291592
MIRT497462	hsa-miR-372-3p	PAR-CLIP	22291592
MIRT497461	hsa-miR-373-3p	PAR-CLIP	22291592
MIRT497460	hsa-miR-520a-3p	PAR-CLIP	22291592
MIRT497459	hsa-miR-520b	PAR-CLIP	22291592
MIRT497458	hsa-miR-520c-3p	PAR-CLIP	22291592
MIRT497457	hsa-miR-520d-3p	PAR-CLIP	22291592
MIRT497456	hsa-miR-520e	PAR-CLIP	22291592
MIRT497455	hsa-miR-4637	PAR-CLIP	22291592
MIRT497454	hsa-miR-4513	PAR-CLIP	22291592
MIRT497453	hsa-miR-6855-3p	PAR-CLIP	22291592
MIRT497452	hsa-miR-6857-3p	PAR-CLIP	22291592
MIRT497451	hsa-miR-5189-3p	PAR-CLIP	22291592
MIRT497450	hsa-miR-3136-5p	PAR-CLIP	22291592
MIRT497449	hsa-miR-4439	PAR-CLIP	22291592
MIRT497448	hsa-miR-943	PAR-CLIP	22291592
MIRT030671	hsa-miR-21-5p	Microarray	33439992
MIRT668768	hsa-miR-4687-5p	HITS-CLIP	23824327
MIRT668767	hsa-miR-6779-3p	HITS-CLIP	23824327
MIRT668766	hsa-miR-129-1-3p	HITS-CLIP	23824327
MIRT668765	hsa-miR-129-2-3p	HITS-CLIP	23824327
MIRT668764	hsa-miR-892c-5p	HITS-CLIP	23824327
MIRT668763	hsa-miR-506-5p	HITS-CLIP	23824327
MIRT668762	hsa-miR-4704-3p	HITS-CLIP	23824327
MIRT668761	hsa-miR-6756-3p	HITS-CLIP	23824327
MIRT668760	hsa-miR-454-5p	HITS-CLIP	23824327
MIRT668759	hsa-miR-4732-3p	HITS-CLIP	23824327
MIRT668758	hsa-miR-6759-3p	HITS-CLIP	23824327
MIRT668757	hsa-miR-7976	HITS-CLIP	23824327
MIRT668755	hsa-miR-6883-3p	HITS-CLIP	23824327
MIRT668756	hsa-miR-4691-5p	HITS-CLIP	23824327
MIRT668754	hsa-miR-6792-3p	HITS-CLIP	23824327
MIRT668753	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT659143	hsa-miR-645	HITS-CLIP	23824327
MIRT659142	hsa-miR-3119	HITS-CLIP	23824327
MIRT659140	hsa-miR-3125	HITS-CLIP	23824327
MIRT659141	hsa-miR-3916	HITS-CLIP	23824327
MIRT659139	hsa-miR-6859-5p	HITS-CLIP	23824327
MIRT659138	hsa-miR-302a-5p	HITS-CLIP	23824327
MIRT659137	hsa-miR-3928-3p	HITS-CLIP	23824327
MIRT659136	hsa-miR-6826-3p	HITS-CLIP	23824327
MIRT497471	hsa-miR-618	PAR-CLIP	22291592
MIRT497470	hsa-miR-519a-3p	PAR-CLIP	22291592
MIRT497469	hsa-miR-519b-3p	PAR-CLIP	22291592
MIRT497468	hsa-miR-519c-3p	PAR-CLIP	22291592
MIRT497467	hsa-miR-302a-3p	PAR-CLIP	22291592
MIRT497466	hsa-miR-302b-3p	PAR-CLIP	22291592
MIRT497465	hsa-miR-302c-3p	PAR-CLIP	22291592
MIRT497464	hsa-miR-302d-3p	PAR-CLIP	22291592
MIRT497463	hsa-miR-302e	PAR-CLIP	22291592
MIRT497462	hsa-miR-372-3p	PAR-CLIP	22291592
MIRT497461	hsa-miR-373-3p	PAR-CLIP	22291592
MIRT497460	hsa-miR-520a-3p	PAR-CLIP	22291592
MIRT497459	hsa-miR-520b	PAR-CLIP	22291592
MIRT497458	hsa-miR-520c-3p	PAR-CLIP	22291592
MIRT497457	hsa-miR-520d-3p	PAR-CLIP	22291592
MIRT497456	hsa-miR-520e	PAR-CLIP	22291592
MIRT497455	hsa-miR-4637	PAR-CLIP	22291592
MIRT497454	hsa-miR-4513	PAR-CLIP	22291592
MIRT497453	hsa-miR-6855-3p	PAR-CLIP	22291592
MIRT497452	hsa-miR-6857-3p	PAR-CLIP	22291592
MIRT497451	hsa-miR-5189-3p	PAR-CLIP	22291592
MIRT497450	hsa-miR-3136-5p	PAR-CLIP	22291592
MIRT497449	hsa-miR-4439	PAR-CLIP	22291592
MIRT497448	hsa-miR-943	PAR-CLIP	22291592
MIRT1975220	hsa-miR-1321	CLIP-seq
MIRT1975221	hsa-miR-3162-5p	CLIP-seq
MIRT1975222	hsa-miR-4739	CLIP-seq
MIRT1975223	hsa-miR-4756-5p	CLIP-seq
MIRT1975220	hsa-miR-1321	CLIP-seq
MIRT1975221	hsa-miR-3162-5p	CLIP-seq
MIRT2210604	hsa-miR-4537	CLIP-seq
MIRT1975222	hsa-miR-4739	CLIP-seq
MIRT2210605	hsa-miR-4751	CLIP-seq
MIRT1975223	hsa-miR-4756-5p	CLIP-seq
MIRT2210606	hsa-miR-492	CLIP-seq
MIRT2210607	hsa-miR-643	CLIP-seq

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Transcription factor	Regulation	Reference
ATF4	Activation	20564243

Show/Hide all (75)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0001503	Process	Ossification	IEA
GO:0003416	Process	Endochondral bone growth	IEA
GO:0003416	Process	Endochondral bone growth	ISS
GO:0004672	Function	Protein kinase activity	IEA
GO:0004713	Function	Protein tyrosine kinase activity	IEA
GO:0004714	Function	Transmembrane receptor protein tyrosine kinase activity	IDA	20004161
GO:0004714	Function	Transmembrane receptor protein tyrosine kinase activity	IEA
GO:0004714	Function	Transmembrane receptor protein tyrosine kinase activity	TAS	9659899
GO:0005515	Function	Protein binding	IPI	17703188, 22939624, 25036637, 33961781, 35384245
GO:0005518	Function	Collagen binding	IBA
GO:0005518	Function	Collagen binding	IDA	20004161
GO:0005518	Function	Collagen binding	IEA
GO:0005524	Function	ATP binding	IEA
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IDA
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS	9659899
GO:0005925	Component	Focal adhesion	HDA	21423176
GO:0007155	Process	Cell adhesion	TAS	9659899
GO:0007165	Process	Signal transduction	TAS	9659899
GO:0007169	Process	Cell surface receptor protein tyrosine kinase signaling pathway	IBA
GO:0007169	Process	Cell surface receptor protein tyrosine kinase signaling pathway	IEA
GO:0007169	Process	Cell surface receptor protein tyrosine kinase signaling pathway	IEA
GO:0008284	Process	Positive regulation of cell population proliferation	IEA
GO:0010715	Process	Regulation of extracellular matrix disassembly	IEA
GO:0010715	Process	Regulation of extracellular matrix disassembly	TAS	16626936
GO:0010763	Process	Positive regulation of fibroblast migration	IEA
GO:0010763	Process	Positive regulation of fibroblast migration	ISS
GO:0010763	Process	Positive regulation of fibroblast migration	TAS	16626936
GO:0010976	Process	Positive regulation of neuron projection development	IBA
GO:0015629	Component	Actin cytoskeleton	IDA
GO:0016020	Component	Membrane	IEA
GO:0016301	Function	Kinase activity	IEA
GO:0016324	Component	Apical plasma membrane	IEA
GO:0016740	Function	Transferase activity	IEA
GO:0018108	Process	Peptidyl-tyrosine phosphorylation	IDA	20004161
GO:0030199	Process	Collagen fibril organization	IEA
GO:0030199	Process	Collagen fibril organization	ISS
GO:0030500	Process	Regulation of bone mineralization	IMP	20564243
GO:0031214	Process	Biomineral tissue development	IEA
GO:0031214	Process	Biomineral tissue development	ISS
GO:0032967	Process	Positive regulation of collagen biosynthetic process	IEA
GO:0034103	Process	Regulation of tissue remodeling	IMP	30449416
GO:0035988	Process	Chondrocyte proliferation	IEA
GO:0035988	Process	Chondrocyte proliferation	ISS
GO:0035988	Process	Chondrocyte proliferation	TAS	16626936
GO:0035994	Process	Response to muscle stretch	IEA
GO:0038062	Function	Protein tyrosine kinase collagen receptor activity	IBA
GO:0038062	Function	Protein tyrosine kinase collagen receptor activity	IDA	9659899
GO:0038062	Function	Protein tyrosine kinase collagen receptor activity	IEA
GO:0038063	Process	Collagen-activated tyrosine kinase receptor signaling pathway	IDA	16186108
GO:0038063	Process	Collagen-activated tyrosine kinase receptor signaling pathway	IEA
GO:0043066	Process	Negative regulation of apoptotic process	IEA
GO:0043235	Component	Receptor complex	IBA
GO:0045669	Process	Positive regulation of osteoblast differentiation	IMP	20564243
GO:0045860	Process	Positive regulation of protein kinase activity	IMP	20564243
GO:0046777	Process	Protein autophosphorylation	IDA	16186108
GO:0048146	Process	Positive regulation of fibroblast proliferation	IEA
GO:0048146	Process	Positive regulation of fibroblast proliferation	ISS
GO:0051091	Process	Positive regulation of DNA-binding transcription factor activity	IMP	20564243
GO:0051897	Process	Positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction	IBA
GO:0070374	Process	Positive regulation of ERK1 and ERK2 cascade	IEA
GO:0071456	Process	Cellular response to hypoxia	IEA
GO:0071560	Process	Cellular response to transforming growth factor beta stimulus	IEA
GO:0090091	Process	Positive regulation of extracellular matrix disassembly	IEA
GO:0090091	Process	Positive regulation of extracellular matrix disassembly	ISS
GO:0090303	Process	Positive regulation of wound healing	IEA
GO:1900087	Process	Positive regulation of G1/S transition of mitotic cell cycle	IEA
GO:1901299	Process	Negative regulation of hydrogen peroxide-mediated programmed cell death	IEA
GO:1904385	Process	Cellular response to angiotensin	IEA
GO:1904707	Process	Positive regulation of vascular associated smooth muscle cell proliferation	IEA
GO:1904754	Process	Positive regulation of vascular associated smooth muscle cell migration	IEA
GO:1904899	Process	Positive regulation of hepatic stellate cell proliferation	IEA
GO:2000491	Process	Positive regulation of hepatic stellate cell activation	IEA

MIM	HGNC	e!Ensembl
191311	2731	ENSG00000162733

Q16832

Protein name

Discoidin domain-containing receptor 2 (Discoidin domain receptor 2) (EC 2.7.10.1) (CD167 antigen-like family member B) (Discoidin domain-containing receptor tyrosine kinase 2) (Neurotrophic tyrosine kinase, receptor-related 3) (Receptor protein-tyrosine

Protein function

Tyrosine kinase involved in the regulation of tissues remodeling (PubMed:30449416). It functions as a cell surface receptor for fibrillar collagen and regulates cell differentiation, remodeling of the extracellular matrix, cell migration and cel

PDB

2WUH , 2Z4F , 6FER , 7AZB

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00754	F5_F8_type_C	45 → 182	F5/8 type C domain	Domain
PF07714	PK_Tyr_Ser-Thr	563 → 849	Protein tyrosine and serine/threonine kinase	Domain

Tissue specificity

TISSUE SPECIFICITY: Detected in osteocytes, osteoblastic cells in subchondral bone, bone lining cells, tibia and cartilage (at protein level). Detected at high levels in heart and lung, and at low levels in brain, placenta, liver, skeletal muscle, pancrea

Sequence

MILIPRMLLVLFLLLPILSSAKAQVNPAICRYPLGMSGGQIPDEDITASSQWSESTAAKY
GRLDSEEGDGAWCPEIPVEPDDLKEFLQIDLHTLHFITLVGTQGRHAGGHGIEFAPMYKI
NYSRDGTRWISWRNRHGKQVLDGNSNPYDIFLKDLEPPIVARFVRFIPVTDHSMNVCMRV
ELYGCVWLDGLVSYNAPAGQQFVLPGGSIIYLNDSVYDGAVGYSMTEGLGQLTDGVSGLD
DFTQTHEYHVWPGYDYVGWRNESATNGYIEIMFEFDRIRNFTTMKVHCNNMFAKGVKIFK
EVQCYFRSEASEWEPNAISFPLVLDDVNPSARFVTVPLHHRMASAIKCQYHFADTWMMFS
EITFQSDAAMYNNSEALPTSPMAPTTYDPMLKVDDSNTRILIGCLVAIIFILLAIIVIIL
WRQFWQKMLEKASRRMLDDEMTVSLSLPSDSSMFNNNRSSSPSEQGSNSTYDRIFPLRPD
YQEPSRLIRKLPEFAPGEEESGCSGVVKPVQPSGPEGVPHYAEADIVNLQGVTGGNTYSV
PAVTMDLLSGKDVAVEEFPRKLLTFKEKLGEGQFGEVHLCEVEGMEKFKDKDFALDVSAN
QPVLVAVKMLRADANKNARNDFLKEIKIMSRLKDPNIIHLLAVCITDDPLCMITEYMENG
DLNQFLSRHEPPNSSSSDVRTVSYTNLKFMATQIASGMKYLSSLNFVHRDLATRNCLVGK
NYTIKIADFGMSRNLYSGDYYRIQGRAVLPIRWMSWESILLGKFTTASDVWAFGVTLWET
FTFCQEQPYSQLSDEQVIENTGEFFRDQGRQTYLPQPAICPDSVYKLMLSCWRRDTKNRP
SFQEIHLLLLQQGDE

Sequence length

855

Interactions

View interactions

	Reactome
			Non-integrin membrane-ECM interactions

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Causal Diseases (3)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Ovarian serous cystadenocarcinoma	Pathogenic	rs1056323839	RCV005931637	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome	Likely pathogenic; Pathogenic	rs2102206250, rs121964863, rs121964864, rs121964865, rs1571325076, rs1647819392, rs397514747	RCV002279764 RCV000013106 RCV000013107 RCV000013108 RCV000013109 RCV003993619 RCV000054530 View all (2 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Warburg-cinotti syndrome	Pathogenic	rs1558079436	RCV000714481	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (17)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
CERVICAL CANCER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CERVICAL CARCINOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHOROIDAL MELANOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONNECTIVE TISSUE DISEASES	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Connective tissue disorder	Uncertain significance; Conflicting classifications of pathogenicity; Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORONARY ARTERY DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DDR2-related disorder	Benign; Likely benign; Conflicting classifications of pathogenicity; Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DESBUQUOIS SYNDROME	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DUPUYTREN CONTRACTURE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GOUT	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung adenocarcinoma	Benign; Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OPEN-ANGLE GLAUCOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RHEUMATOID ARTHRITIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Spondyloepimetaphyseal dysplasia	Uncertain significance; Benign; Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPONDYLOEPIMETAPHYSEAL DYSPLASIA, SHORT LIMB, ABNORMAL CALCIFICATION SYNDROME	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Squamous cell lung carcinoma	Benign; Uncertain significance; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (123)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Adenocarcinoma	Adenocarcinoma	BEFREE	26102443, 29043607		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	BEFREE	26206333		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	CTD_human_DG	26206333		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ameloblastoma	Ameloblastoma	BEFREE	24723326		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ameloblastoma	Ameloblastoma	Pubtator	24723326	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Arteriosclerosis	Arteriosclerosis	BEFREE	15111304		★★★★★ ★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	BEFREE	15111304		★★★★★ ★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	Pubtator	15111304, 15136580, 24723326, 24768818	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Atlantoaxial instability	Atlantoaxial abnormality	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Atrial Fibrillation	Atrial fibrillation	Pubtator	23593175	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Azoospermia	Azoospermia	Pubtator	40215689	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	23644467, 25955408, 28147276, 30061414		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	25667101, 25955408, 28590426, 31570520, 33439992, 35711892, 36404592	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Byzanthine arch palate	High palate	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Calcification of falx cerebri	Calcification of falx cerebri	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Calcification of trachea	Calcification Of Trachea	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Calcinosis	Calcinosis	Pubtator	19110212	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	25667101		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	26362312, 34335575, 36471363	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Intraductal Noninfiltrating	Intraductal noninfiltrating carcinoma	Pubtator	25667101	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	23822953, 24296828, 26206333, 26390252, 28161936, 28676216, 28754957		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Ovarian Epithelial	Epithelial ovarian carcinoma	Pubtator	36149163	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	22768234, 23822953, 24296828, 25173530, 29043607, 29129434, 30048458	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	29348456		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cartilage Diseases	Cartilage disease	Pubtator	17968949	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	21701781		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	28476831, 30711966		★★★★★ ★☆☆☆☆ Found in Text Mining only
Compression of spinal cord	Spinal cord compression	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital anomaly of neck	Congenital Anomaly Of Neck	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital pectus excavatum	Congenital Pectus Excavatum	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Degenerative polyarthritis	Arthritis	BEFREE	17665456, 17968949, 19267386, 24361528, 31003149, 31177815		★★★★★ ★☆☆☆☆ Found in Text Mining only
Degenerative polyarthritis	Arthritis	LHGDN	17968949		★★★★★ ★☆☆☆☆ Found in Text Mining only
Down Syndrome	Down syndrome	Pubtator	28590426	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Dupuytren Contracture	Dupuytren Contracture	GWASCAT_DG	28886342		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Epiphyseal dysplasia	Epiphyseal dysplasia	BEFREE	26463668		★★★★★ ★☆☆☆☆ Found in Text Mining only
Exophthalmos	Proptosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Flexion contracture - elbow	Elbow flexion contracture	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Frontal bossing	Frontal bossing	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hodgkin Disease	Hodgkin disease	Pubtator	15677564	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hyperglycemia	Hyperglycemia	BEFREE	31805124		★★★★★ ★☆☆☆☆ Found in Text Mining only
Large cell carcinoma of lung	Lung Carcinoma	UNIPROT_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
LEUKOENCEPHALOPATHY, BRAIN CALCIFICATIONS, AND CYSTS	LEUKOENCEPHALOPATHY, BRAIN CALCIFICATIONS, AND CYSTS	BEFREE	30048458		★★★★★ ★☆☆☆☆ Found in Text Mining only
liposarcoma	Liposarcoma	BEFREE	24505276		★★★★★ ★☆☆☆☆ Found in Text Mining only
Liposarcoma	Liposarcoma	Pubtator	24505276	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Liposarcoma, well differentiated	liposarcoma	BEFREE	24505276		★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	21701781, 25842034, 30048458		★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis	Liver cirrhosis	Pubtator	15136580, 15591520	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis Biliary	Liver cirrhosis	Pubtator	12765478	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver neoplasms	Liver neoplasms	BEFREE	21701781		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	23822953, 24296828, 24696502, 24768818, 26390252, 28754957, 30048458	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphangioleiomyomatosis	Lymphangiomyomatosis	BEFREE	15111304		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	25955408, 29945346	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant melanoma of choroid	Choroidal melanoma	GWASCAT_DG	31626034		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	23644467, 25955408, 28147276, 30061414		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of gallbladder	Gallbladder cancer	BEFREE	29043607		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	22328973, 23822953, 24296828, 26206333, 26390252, 28161936, 28676216, 28754957		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	29348456		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	24787381		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	26934957, 27010547		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	24293323, 24556606, 26619122, 26826182, 27589335, 31570520		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Squamous Cell Neoplasm	Neoplasm	BEFREE	24828669, 24885564, 25348954		★★★★★ ★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	21701781		★★★★★ ★☆☆☆☆ Found in Text Mining only
Metabolic Syndrome X	Metabolic Syndrome	BEFREE	31805124		★★★★★ ★☆☆☆☆ Found in Text Mining only
Micrognathism	Micrognathism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Micromelia	Micromelia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Mouth Neoplasms	Mouth neoplasm	Pubtator	29945346, 36849997	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Nasopharyngeal carcinoma	Nasopharyngeal Carcinoma	BEFREE	18023033		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	17299390, 17786355, 21701781, 24293323, 24556606, 25667101, 25842034, 26206333, 27010547, 29043607, 29616590, 30061414, 30801016, 30810094, 30862718, 31144616 View all (1 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
nervous system disorder	Nervous System Disorder	BEFREE	29550247		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	Pubtator	38538106	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	17299390, 25173530, 26390252, 26826182, 30048458, 31269869		★★★★★ ★☆☆☆☆ Found in Text Mining only
Noninfiltrating Intraductal Carcinoma	Ductal carcinoma	BEFREE	25667101		★★★★★ ★☆☆☆☆ Found in Text Mining only
Optic Atrophy	Optic atrophy	Pubtator	24725993	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteoarthritis	Osteoarthritis	Pubtator	17968949, 39213112	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteoarthritis, Knee	Knee osteoarthritis	BEFREE	31258642		★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteolysis involving bones of the feet	Osteolysis involving bones of the feet	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	BEFREE	25658585, 25805889		★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	Pubtator	25658585, 39213112	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Ovarian Diseases	Ovarian diseases	Pubtator	38154356	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	BEFREE	29348456		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	30810094, 37303048, 37527178, 38154356	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	34065317	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Papillary thyroid carcinoma	Papillary thyroid carcinoma	BEFREE	17786355, 29250189		★★★★★ ★☆☆☆☆ Found in Text Mining only
Precursor Cell Lymphoblastic Leukemia Lymphoma	Lymphoblastic Leukemia	BEFREE	30922709		★★★★★ ★☆☆☆☆ Found in Text Mining only
Primary biliary cirrhosis	Biliary Cirrhosis	BEFREE	12765478		★★★★★ ★☆☆☆☆ Found in Text Mining only
Primary sclerosing cholangitis	Sclerosing Cholangitis	BEFREE	12765478		★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	24787381		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pulmonary Fibrosis	Pulmonary Fibrosis	BEFREE	28700752		★★★★★ ★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	16967187, 19415460, 27653023		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Sarcoma	Pubtator	22461510	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Scleroderma	Scleroderma	BEFREE	22832484		★★★★★ ★☆☆☆☆ Found in Text Mining only
Scoliosis, unspecified	Scoliosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Small cell carcinoma of lung	Lung carcinoma	BEFREE	30048458		★★★★★ ★☆☆☆☆ Found in Text Mining only
Spondyloepimetaphyseal disorder	Spondyloepimetaphyseal dysplasia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome	Spondyloepimetaphyseal Dysplasia-Short Limb-Abnormal Calcification Syndrome	Orphanet			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	Spondylometaphyseal dysplasia	ORPHANET_DG	19110212		★★★★★ ★☆☆☆☆ Found in Text Mining only
SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	Spondylometaphyseal dysplasia	UNIPROT_DG	19110212, 20223752, 26463668		★★★★★ ★☆☆☆☆ Found in Text Mining only
SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	Spondylometaphyseal dysplasia	BEFREE	20223752, 26463668, 29884795		★★★★★ ★☆☆☆☆ Found in Text Mining only
SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	Spondylometaphyseal dysplasia	GENOMICS_ENGLAND_DG	8434618		★★★★★ ★☆☆☆☆ Found in Text Mining only
SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	Spondylometaphyseal dysplasia	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	Spondylometaphyseal dysplasia	CTD_human_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	CLINVAR_DG	18938156, 22328973, 23932362		★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	BEFREE	22768234, 23822953, 23932362, 24828669, 24885564, 25348954, 26102443, 28161936, 29945346, 30048458		★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	CGI_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	25056374, 26619122, 29945346, 32009633	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of lung	Lung carcinoma	BEFREE	22328973, 22586316, 23930754, 24158231, 24296828, 24885564, 28676216, 29129434, 30572178		★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of lung	Lung carcinoma	CLINVAR_DG	22328973		★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of lung	Lung carcinoma	CGI_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of the head and neck	Carcinoma Of The Head And Neck	BEFREE	24556606		★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	26934957, 27010547		★★★★★ ★☆☆☆☆ Found in Text Mining only
Synovitis	Synovitis	BEFREE	21788902		★★★★★ ★☆☆☆☆ Found in Text Mining only
Syringomyelia	Syringomyelia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Systemic Scleroderma	Scleroderma	BEFREE	22832484		★★★★★ ★☆☆☆☆ Found in Text Mining only
Thoracic hypoplasia	Thoracic hypoplasia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Transitional cell carcinoma of bladder	Bladder carcinoma	BEFREE	27793038		★★★★★ ★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple Negative Breast Neoplasms	BEFREE	25667101		★★★★★ ★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple negative breast cancer	Pubtator	25667101, 28590426, 36713812, 40594223	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	27793038	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Urologic Neoplasms	Urologic neoplasm	Pubtator	27793038	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Urothelial Carcinoma	Urothelial Carcinoma	BEFREE	27793038		★★★★★ ★☆☆☆☆ Found in Text Mining only
Vascular System Injuries	Vascular system injury	Pubtator	31254341	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Vision Disorders	Visual disorder	Pubtator	24725993	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

DDR2 (discoidin domain receptor tyrosine kinase 2)