DDR1 (discoidin domain receptor tyrosine kinase 1)

Gene

• Entrez ID: 780
• Gene name: Discoidin domain receptor tyrosine kinase 1
• Gene symbol: DDR1
• Synonyms: CAK, CD167, DDR, EDDR1, HGK2, MCK10, NEP, NTRK4, PTK3, PTK3A, RTK6, TRKE
• Chromosome: 6
• Chromosome location: 6p21.33
• Summary: Receptor tyrosine kinases play a key role in the communication of cells with their microenvironment. These kinases are involved in the regulation of cell growth, differentiation and metabolism. The protein encoded by this gene belongs to a subfamily of ty

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT004674	hsa-miR-199a-5p	Luciferase reporter assay, qRT-PCR, Western blot	20799954
MIRT004674	hsa-miR-199a-5p	Luciferase reporter assay, qRT-PCR, Western blot	20799954
MIRT004674	hsa-miR-199a-5p	Luciferase reporter assay, qRT-PCR, Western blot	20799954
MIRT004674	hsa-miR-199a-5p	Luciferase reporter assay, qRT-PCR, Western blot	20799954
MIRT006812	hsa-miR-199b-5p	Immunohistochemistry, Luciferase reporter assay, Northern blot, qRT-PCR, Western blot	22374871
MIRT006812	hsa-miR-199b-5p	Immunohistochemistry, Luciferase reporter assay, Northern blot, qRT-PCR, Western blot	22374871
MIRT017205	hsa-miR-335-5p	Microarray	18185580
MIRT004674	hsa-miR-199a-5p	Luciferase reporter assay, qRT-PCR, Western blot	26655502
MIRT929456	hsa-miR-125a-3p	CLIP-seq
MIRT929457	hsa-miR-1825	CLIP-seq
MIRT929458	hsa-miR-1908	CLIP-seq
MIRT929459	hsa-miR-3134	CLIP-seq
MIRT929460	hsa-miR-361-3p	CLIP-seq
MIRT929461	hsa-miR-3934	CLIP-seq
MIRT929462	hsa-miR-4489	CLIP-seq
MIRT929463	hsa-miR-4508	CLIP-seq
MIRT929464	hsa-miR-4534	CLIP-seq
MIRT929465	hsa-miR-4640-3p	CLIP-seq
MIRT929466	hsa-miR-4726-3p	CLIP-seq
MIRT929467	hsa-miR-4802-5p	CLIP-seq
MIRT929468	hsa-miR-663	CLIP-seq
MIRT929469	hsa-miR-744	CLIP-seq
MIRT929470	hsa-miR-764	CLIP-seq
MIRT929471	hsa-miR-765	CLIP-seq
MIRT929472	hsa-miR-1207-3p	CLIP-seq
MIRT929473	hsa-miR-1224-5p	CLIP-seq
MIRT929474	hsa-miR-1237	CLIP-seq
MIRT929475	hsa-miR-1238	CLIP-seq
MIRT929476	hsa-miR-1248	CLIP-seq
MIRT929477	hsa-miR-1252	CLIP-seq
MIRT929456	hsa-miR-125a-3p	CLIP-seq
MIRT929478	hsa-miR-1273	CLIP-seq
MIRT929479	hsa-miR-1293	CLIP-seq
MIRT929480	hsa-miR-130a	CLIP-seq
MIRT929481	hsa-miR-130b	CLIP-seq
MIRT929482	hsa-miR-134	CLIP-seq
MIRT929457	hsa-miR-1825	CLIP-seq
MIRT929483	hsa-miR-185	CLIP-seq
MIRT929458	hsa-miR-1908	CLIP-seq
MIRT929484	hsa-miR-1909	CLIP-seq
MIRT929485	hsa-miR-198	CLIP-seq
MIRT929486	hsa-miR-2355-3p	CLIP-seq
MIRT929487	hsa-miR-2467-3p	CLIP-seq
MIRT929488	hsa-miR-301a	CLIP-seq
MIRT929489	hsa-miR-301b	CLIP-seq
MIRT929490	hsa-miR-3118	CLIP-seq
MIRT929459	hsa-miR-3134	CLIP-seq
MIRT929491	hsa-miR-3135	CLIP-seq
MIRT929492	hsa-miR-3136-5p	CLIP-seq
MIRT929493	hsa-miR-3152-5p	CLIP-seq
MIRT929494	hsa-miR-3179	CLIP-seq
MIRT929495	hsa-miR-3180	CLIP-seq
MIRT929496	hsa-miR-3180-3p	CLIP-seq
MIRT929497	hsa-miR-3183	CLIP-seq
MIRT929498	hsa-miR-3185	CLIP-seq
MIRT929499	hsa-miR-3196	CLIP-seq
MIRT929500	hsa-miR-3202	CLIP-seq
MIRT929501	hsa-miR-337-3p	CLIP-seq
MIRT929502	hsa-miR-3591-5p	CLIP-seq
MIRT929460	hsa-miR-361-3p	CLIP-seq
MIRT929503	hsa-miR-3616-3p	CLIP-seq
MIRT929504	hsa-miR-3655	CLIP-seq
MIRT929505	hsa-miR-3657	CLIP-seq
MIRT929506	hsa-miR-3666	CLIP-seq
MIRT929507	hsa-miR-3909	CLIP-seq
MIRT929461	hsa-miR-3934	CLIP-seq
MIRT929508	hsa-miR-4261	CLIP-seq
MIRT929509	hsa-miR-4269	CLIP-seq
MIRT929510	hsa-miR-4271	CLIP-seq
MIRT929511	hsa-miR-4280	CLIP-seq
MIRT929512	hsa-miR-4282	CLIP-seq
MIRT929513	hsa-miR-4289	CLIP-seq
MIRT929514	hsa-miR-4295	CLIP-seq
MIRT929515	hsa-miR-4306	CLIP-seq
MIRT929516	hsa-miR-4436b-3p	CLIP-seq
MIRT929517	hsa-miR-4439	CLIP-seq
MIRT929518	hsa-miR-4446-3p	CLIP-seq
MIRT929519	hsa-miR-4450	CLIP-seq
MIRT929520	hsa-miR-4457	CLIP-seq
MIRT929521	hsa-miR-4476	CLIP-seq
MIRT929522	hsa-miR-4483	CLIP-seq
MIRT929462	hsa-miR-4489	CLIP-seq
MIRT929523	hsa-miR-4492	CLIP-seq
MIRT929524	hsa-miR-4496	CLIP-seq
MIRT929525	hsa-miR-4498	CLIP-seq
MIRT929526	hsa-miR-4505	CLIP-seq
MIRT929463	hsa-miR-4508	CLIP-seq
MIRT929527	hsa-miR-4513	CLIP-seq
MIRT929528	hsa-miR-4533	CLIP-seq
MIRT929464	hsa-miR-4534	CLIP-seq
MIRT929529	hsa-miR-454	CLIP-seq
MIRT929465	hsa-miR-4640-3p	CLIP-seq
MIRT929530	hsa-miR-4640-5p	CLIP-seq
MIRT929531	hsa-miR-4644	CLIP-seq
MIRT929532	hsa-miR-4649-5p	CLIP-seq
MIRT929533	hsa-miR-4661-3p	CLIP-seq
MIRT929534	hsa-miR-4669	CLIP-seq
MIRT929535	hsa-miR-4671-3p	CLIP-seq
MIRT929536	hsa-miR-4690-5p	CLIP-seq
MIRT929537	hsa-miR-4693-3p	CLIP-seq
MIRT929538	hsa-miR-4700-3p	CLIP-seq
MIRT929539	hsa-miR-4711-3p	CLIP-seq
MIRT929540	hsa-miR-4712-3p	CLIP-seq
MIRT929541	hsa-miR-4721	CLIP-seq
MIRT929542	hsa-miR-4723-3p	CLIP-seq
MIRT929543	hsa-miR-4725-3p	CLIP-seq
MIRT929466	hsa-miR-4726-3p	CLIP-seq
MIRT929544	hsa-miR-4726-5p	CLIP-seq
MIRT929545	hsa-miR-4731-5p	CLIP-seq
MIRT929546	hsa-miR-4747-5p	CLIP-seq
MIRT929547	hsa-miR-4751	CLIP-seq
MIRT929548	hsa-miR-4773	CLIP-seq
MIRT929549	hsa-miR-4795-3p	CLIP-seq
MIRT929550	hsa-miR-4796-5p	CLIP-seq
MIRT929467	hsa-miR-4802-5p	CLIP-seq
MIRT929551	hsa-miR-494	CLIP-seq
MIRT929552	hsa-miR-541	CLIP-seq
MIRT929553	hsa-miR-548c-3p	CLIP-seq
MIRT929554	hsa-miR-556-3p	CLIP-seq
MIRT929555	hsa-miR-574-5p	CLIP-seq
MIRT929556	hsa-miR-578	CLIP-seq
MIRT929557	hsa-miR-592	CLIP-seq
MIRT929558	hsa-miR-593	CLIP-seq
MIRT929559	hsa-miR-599	CLIP-seq
MIRT929560	hsa-miR-654-5p	CLIP-seq
MIRT929468	hsa-miR-663	CLIP-seq
MIRT929561	hsa-miR-665	CLIP-seq
MIRT929562	hsa-miR-676	CLIP-seq
MIRT929469	hsa-miR-744	CLIP-seq
MIRT929563	hsa-miR-762	CLIP-seq
MIRT929470	hsa-miR-764	CLIP-seq
MIRT929471	hsa-miR-765	CLIP-seq
MIRT929474	hsa-miR-1237	CLIP-seq
MIRT929476	hsa-miR-1248	CLIP-seq
MIRT929457	hsa-miR-1825	CLIP-seq
MIRT929485	hsa-miR-198	CLIP-seq
MIRT929486	hsa-miR-2355-3p	CLIP-seq
MIRT929504	hsa-miR-3655	CLIP-seq
MIRT1975216	hsa-miR-3907	CLIP-seq
MIRT929507	hsa-miR-3909	CLIP-seq
MIRT929530	hsa-miR-4640-5p	CLIP-seq
MIRT929544	hsa-miR-4726-5p	CLIP-seq
MIRT929556	hsa-miR-578	CLIP-seq
MIRT929562	hsa-miR-676	CLIP-seq
MIRT929472	hsa-miR-1207-3p	CLIP-seq
MIRT929479	hsa-miR-1293	CLIP-seq
MIRT929457	hsa-miR-1825	CLIP-seq
MIRT1975217	hsa-miR-3168	CLIP-seq
MIRT929502	hsa-miR-3591-5p	CLIP-seq
MIRT1975218	hsa-miR-4302	CLIP-seq
MIRT929522	hsa-miR-4483	CLIP-seq
MIRT1975219	hsa-miR-4699-3p	CLIP-seq
MIRT929472	hsa-miR-1207-3p	CLIP-seq
MIRT2210591	hsa-miR-1287	CLIP-seq
MIRT929479	hsa-miR-1293	CLIP-seq
MIRT929480	hsa-miR-130a	CLIP-seq
MIRT929481	hsa-miR-130b	CLIP-seq
MIRT929457	hsa-miR-1825	CLIP-seq
MIRT2210592	hsa-miR-2276	CLIP-seq
MIRT929488	hsa-miR-301a	CLIP-seq
MIRT929489	hsa-miR-301b	CLIP-seq
MIRT2210593	hsa-miR-3145-5p	CLIP-seq
MIRT2210594	hsa-miR-3154	CLIP-seq
MIRT2210595	hsa-miR-3184	CLIP-seq
MIRT929506	hsa-miR-3666	CLIP-seq
MIRT2210596	hsa-miR-423-5p	CLIP-seq
MIRT929514	hsa-miR-4295	CLIP-seq
MIRT2210597	hsa-miR-4434	CLIP-seq
MIRT929522	hsa-miR-4483	CLIP-seq
MIRT2210598	hsa-miR-4516	CLIP-seq
MIRT929529	hsa-miR-454	CLIP-seq
MIRT929535	hsa-miR-4671-3p	CLIP-seq
MIRT2210599	hsa-miR-4688	CLIP-seq
MIRT1975219	hsa-miR-4699-3p	CLIP-seq
MIRT2210600	hsa-miR-4728-5p	CLIP-seq
MIRT2210601	hsa-miR-4764-5p	CLIP-seq
MIRT2210602	hsa-miR-486-3p	CLIP-seq
MIRT2210603	hsa-miR-508-5p	CLIP-seq
MIRT929472	hsa-miR-1207-3p	CLIP-seq
MIRT929457	hsa-miR-1825	CLIP-seq
MIRT929540	hsa-miR-4712-3p	CLIP-seq
MIRT929479	hsa-miR-1293	CLIP-seq
MIRT929482	hsa-miR-134	CLIP-seq
MIRT929457	hsa-miR-1825	CLIP-seq
MIRT929458	hsa-miR-1908	CLIP-seq
MIRT929490	hsa-miR-3118	CLIP-seq
MIRT929492	hsa-miR-3136-5p	CLIP-seq
MIRT929495	hsa-miR-3180	CLIP-seq
MIRT929496	hsa-miR-3180-3p	CLIP-seq
MIRT929499	hsa-miR-3196	CLIP-seq
MIRT929503	hsa-miR-3616-3p	CLIP-seq
MIRT929505	hsa-miR-3657	CLIP-seq
MIRT929517	hsa-miR-4439	CLIP-seq
MIRT929518	hsa-miR-4446-3p	CLIP-seq
MIRT929522	hsa-miR-4483	CLIP-seq
MIRT929462	hsa-miR-4489	CLIP-seq
MIRT929523	hsa-miR-4492	CLIP-seq
MIRT929525	hsa-miR-4498	CLIP-seq
MIRT929526	hsa-miR-4505	CLIP-seq
MIRT929463	hsa-miR-4508	CLIP-seq
MIRT929527	hsa-miR-4513	CLIP-seq
MIRT929534	hsa-miR-4669	CLIP-seq
MIRT929541	hsa-miR-4721	CLIP-seq
MIRT929545	hsa-miR-4731-5p	CLIP-seq
MIRT929468	hsa-miR-663	CLIP-seq
MIRT929469	hsa-miR-744	CLIP-seq
MIRT929563	hsa-miR-762	CLIP-seq
MIRT929457	hsa-miR-1825	CLIP-seq
MIRT929483	hsa-miR-185	CLIP-seq
MIRT929485	hsa-miR-198	CLIP-seq
MIRT2514546	hsa-miR-3151	CLIP-seq
MIRT2514547	hsa-miR-320e	CLIP-seq
MIRT1975216	hsa-miR-3907	CLIP-seq
MIRT2514548	hsa-miR-3925-3p	CLIP-seq
MIRT2514549	hsa-miR-4270	CLIP-seq
MIRT1975218	hsa-miR-4302	CLIP-seq
MIRT929515	hsa-miR-4306	CLIP-seq
MIRT2514550	hsa-miR-4441	CLIP-seq
MIRT2514551	hsa-miR-4488	CLIP-seq
MIRT929530	hsa-miR-4640-5p	CLIP-seq
MIRT929531	hsa-miR-4644	CLIP-seq
MIRT2514552	hsa-miR-4691-3p	CLIP-seq
MIRT2514553	hsa-miR-4697-5p	CLIP-seq
MIRT929466	hsa-miR-4726-3p	CLIP-seq
MIRT929544	hsa-miR-4726-5p	CLIP-seq
MIRT929545	hsa-miR-4731-5p	CLIP-seq
MIRT929550	hsa-miR-4796-5p	CLIP-seq
MIRT2514554	hsa-miR-637	CLIP-seq
MIRT929561	hsa-miR-665	CLIP-seq
MIRT929470	hsa-miR-764	CLIP-seq
MIRT2514555	hsa-miR-766	CLIP-seq
MIRT929457	hsa-miR-1825	CLIP-seq
MIRT929483	hsa-miR-185	CLIP-seq
MIRT929485	hsa-miR-198	CLIP-seq
MIRT2514546	hsa-miR-3151	CLIP-seq
MIRT2514547	hsa-miR-320e	CLIP-seq
MIRT929501	hsa-miR-337-3p	CLIP-seq
MIRT1975216	hsa-miR-3907	CLIP-seq
MIRT2514548	hsa-miR-3925-3p	CLIP-seq
MIRT2514549	hsa-miR-4270	CLIP-seq
MIRT2679143	hsa-miR-4286	CLIP-seq
MIRT1975218	hsa-miR-4302	CLIP-seq
MIRT929515	hsa-miR-4306	CLIP-seq
MIRT2514550	hsa-miR-4441	CLIP-seq
MIRT2514551	hsa-miR-4488	CLIP-seq
MIRT929530	hsa-miR-4640-5p	CLIP-seq
MIRT929531	hsa-miR-4644	CLIP-seq
MIRT2514552	hsa-miR-4691-3p	CLIP-seq
MIRT2514553	hsa-miR-4697-5p	CLIP-seq
MIRT2679144	hsa-miR-4713-5p	CLIP-seq
MIRT929466	hsa-miR-4726-3p	CLIP-seq
MIRT929544	hsa-miR-4726-5p	CLIP-seq
MIRT929545	hsa-miR-4731-5p	CLIP-seq
MIRT929550	hsa-miR-4796-5p	CLIP-seq
MIRT2514554	hsa-miR-637	CLIP-seq
MIRT929561	hsa-miR-665	CLIP-seq
MIRT929470	hsa-miR-764	CLIP-seq
MIRT2514555	hsa-miR-766	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001558	Process	Regulation of cell growth	IEA
GO:0001952	Process	Regulation of cell-matrix adhesion	IEA
GO:0004714	Function	Transmembrane receptor protein tyrosine kinase activity	IBA	21873635
GO:0005515	Function	Protein binding	IPI	16337946, 18190796
GO:0005518	Function	Collagen binding	IBA	21873635
GO:0005518	Function	Collagen binding	IDA	9659899
GO:0005518	Function	Collagen binding	IMP	12065315
GO:0005524	Function	ATP binding	IEA
GO:0005615	Component	Extracellular space	HDA	16502470
GO:0005886	Component	Plasma membrane	TAS
GO:0005887	Component	Integral component of plasma membrane	IBA	21873635
GO:0007155	Process	Cell adhesion	TAS	8302582
GO:0007169	Process	Transmembrane receptor protein tyrosine kinase signaling pathway	IBA	21873635
GO:0007275	Process	Multicellular organism development	IBA	21873635
GO:0007566	Process	Embryo implantation	IEA
GO:0007595	Process	Lactation	IEA
GO:0008285	Process	Negative regulation of cell population proliferation	IEA
GO:0010715	Process	Regulation of extracellular matrix disassembly	IMP	12065315
GO:0014909	Process	Smooth muscle cell migration	IMP	12065315
GO:0030198	Process	Extracellular matrix organization	TAS
GO:0033674	Process	Positive regulation of kinase activity	IBA	21873635
GO:0038062	Function	Protein tyrosine kinase collagen receptor activity	IBA	21873635
GO:0038062	Function	Protein tyrosine kinase collagen receptor activity	IDA	9659899, 21044884
GO:0038063	Process	Collagen-activated tyrosine kinase receptor signaling pathway	IDA	9659899, 21044884
GO:0038063	Process	Collagen-activated tyrosine kinase receptor signaling pathway	IMP	12065315
GO:0038083	Process	Peptidyl-tyrosine autophosphorylation	IDA	21044884
GO:0043235	Component	Receptor complex	IBA	21873635
GO:0043235	Component	Receptor complex	IDA	23382219
GO:0043583	Process	Ear development	IEA
GO:0044319	Process	Wound healing, spreading of cells	IMP	12065315
GO:0046777	Process	Protein autophosphorylation	IDA	9659899
GO:0046872	Function	Metal ion binding	IEA
GO:0060444	Process	Branching involved in mammary gland duct morphogenesis	IEA
GO:0060749	Process	Mammary gland alveolus development	IEA
GO:0061302	Process	Smooth muscle cell-matrix adhesion	IMP	12065315
GO:0061564	Process	Axon development	IEA
GO:0070062	Component	Extracellular exosome	HDA	19199708
GO:1990138	Process	Neuron projection extension	IEA

Other IDs

• MIM: 600408
• HGNC: 2730
• e!Ensembl: ENSG00000204580

Protein

• UniProt ID: Q08345
• Protein name: Epithelial discoidin domain-containing receptor 1 (Epithelial discoidin domain receptor 1) (EC 2.7.10.1) (CD167 antigen-like family member A) (Cell adhesion kinase) (Discoidin receptor tyrosine kinase) (HGK2) (Mammary carcinoma kinase 10) (MCK-10) (Protei
• Protein function: Tyrosine kinase that functions as a cell surface receptor for fibrillar collagen and regulates cell attachment to the extracellular matrix, remodeling of the extracellular matrix, cell migration, differentiation, survival and cell proliferation.
• PDB: 3ZOS, 4AG4, 4BKJ, 4CKR, 5BVK, 5BVN, 5BVO, 5BVW, 5FDP, 5FDX, 5SAU, 5SAV, 5SAW, 5SAX, 5SAY, 5SAZ, 5SB0, 5SB1, 5SB2, 6BRJ, 6BSD, 6FEW, 6FEX, 6FIL, 6FIN, 6FIO, 6FIQ, 6GWR, 6HP9, 6Y23, 7BCM, 7BE6, 7FEH, 8PE9
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00754	F5_F8_type_C	46 → 182	F5/8 type C domain	Domain
  PF07714	PK_Tyr_Ser-Thr	610 → 905	Protein tyrosine and serine/threonine kinase	Domain

• Sequence:

  MGPEALSSLLLLLLVASGDADMKGHFDPAKCRYALGMQDRTIPDSDISASSSWSDSTAAR
  HSRLESSDGDGAWCPAGSVFPKEEEYLQVDLQRLHLVALVGTQGRHAGGLGKEFSRSYRL
  RYSRDGRRWMGWKDRWGQEVISGNEDPEGVVLKDLGPPMVARLVRFYPRADRVMSVCLRV
  ELYGCLWRDGLLSYTAPVGQTMYLSEAVYLNDSTYDGHTVGGLQYGGLGQLADGVVGLDD
  FRKSQELRVWPGYDYVGWSNHSFSSGYVEMEFEFDRLRAFQAMQVHCNNMHTLGARLPGG
  VECRFRRGPAMAWEGEPMRHNLGGNLGDPRARAVSVPLGGRVARFLQCRFLFAGPWLLFS
  EISFISDVVNNSSPALGGTFPPAPWWPPGPPPTNFSSLELEPRGQQPVAKAEGSPTAILI
  GCLVAIILLLLLIIALMLWRLHWRRLLSKAERRVLEEELTVHLSVPGDTILINNRPGPRE
  PPPYQEPRPRGNPPHSAPCVPNGSALLLSNPAYRLLLATYARPPRGPGPPTPAWAKPTNT
  QAYSGDYMEPEKPGAPLLPPPPQNSVPHYAEADIVTLQGVTGGNTYAVPALPPGAVGDGP
  PRVDFPRSRLRFKEKLGEGQFGEVHLCEVDSPQDLVSLDFPLNVRKGHPLLVAVKILRPD
  ATKNARNDFLKEVKIMSRLKDPNIIRLLGVCVQDDPLCMITDYMENGDLNQFLSAHQLED
  KAAEGAPGDGQAAQGPTISYPMLLHVAAQIASGMRYLATLNFVHRDLATRNCLVGENFTI
  KIADFGMSRNLYAGDYYRVQGRAVLPIRWMAWECILMGKFTTASDVWAFGVTLWEVLMLC
  RAQPFGQLTDEQVIENAGEFFRDQGRQVYLSRPPACPQGLYELMLRCWSRESEQRPPFSQ
  LHRFLAEDALNTV

• Sequence length: 913

Pathways

Reactome:

Non-integrin membrane-ECM interactions

Associated diseases

Causal
Disease name	Disease term	dbSNP ID	References
Adenocarcinoma	Adenocarcinoma, Adenocarcinoma, Basal Cell, Adenocarcinoma, Oxyphilic, Adenocarcinoma, Tubular	rs121913530, rs886039394, rs121913474	21552421
Carcinoma	Carcinoma, Cribriform, Carcinoma, Granular Cell	rs121912654, rs555607708, rs786202962, rs1564055259	21552421
Lung carcinoma	Squamous cell carcinoma of lung, Carcinoma of lung	rs1805076, rs121909071, rs121913530, rs112445441, rs121913529, rs121913535, rs121913297, rs121913279, rs104886003, rs397516975, rs11554290, rs121913364, rs121913351, rs121913369, rs121913355, rs121912470, rs121913273, rs121913281, rs121913348, rs727503093, rs121913353, rs397516890, rs397516896, rs121913378, rs397516897, rs397516977, rs397516978, rs397516979, rs397516980, rs397516981, rs397516982, rs121913240, rs17851045, rs397517086, rs121913428, rs397517094, rs397517098, rs397517106, rs121913465, rs397517108, rs397517111, rs397517112, rs397517114, rs397517116, rs1554350366, rs397517127, rs397517200, rs397517202, rs121913283, rs121913370, rs121913357, rs727503106, rs121913238, rs727503108, rs397517040, rs397516976, rs1555618025, rs1057519729, rs1584238193	28604730
Lung cancer	Malignant neoplasm of lung	rs121913530, rs121913529, rs878855122, rs1057519784, rs770315135	21552421
Prostate cancer	Malignant neoplasm of prostate	rs121909139, rs121909140, rs121909141, rs121909142, rs121909143, rs606231169, rs606231170, rs137852584, rs137852578, rs137852580, rs137852581, rs137852582	24763052
Rheumatoid arthritis	Rheumatoid Arthritis	rs3766379, rs3792876, rs2071592, rs3087456, rs587776843, rs1566328963, rs2240340, rs1557787212	17804836, 19503088
Schizophrenia	Schizophrenia	rs74315508, rs74315509, rs13447324, rs1558507406, rs387906932, rs387906933, rs863223354, rs863223355, rs776061422, rs863223349, rs748809996, rs759748655, rs863223353, rs863223350, rs863223356, rs781821239, rs863223348, rs863223346, rs863223347, rs863223351, rs863223352, rs61734270, rs797045205, rs869312829, rs869312830, rs770913157, rs869312832, rs869312831, rs781720548, rs1262969313	28540026, 17440435

Unknown
Disease name	Disease term	dbSNP ID	References
Development disorder	Child Development Disorders, Pervasive		28540026
Lung neoplasms	Lung Neoplasms		21552421
Prostatic neoplasms	Prostatic Neoplasms		24763052
Psoriatic arthritis	Arthritis, Psoriatic		30552173
Takayasu arteritis	Takayasu Arteritis		25604533