EPHB4 (EPH receptor B4)

Gene

• Entrez ID: 2050
• Gene name: EPH receptor B4
• Gene symbol: EPHB4
• Synonyms (NCBI Gene): CMAVM2, HFASD, HTK, LMPHM7, MYK1, TYRO11
• Disease Acronyms (UniProt): CMAVM2, LMPHM7
• Chromosome: 7
• Chromosome location: 7q22.1
• Summary: Ephrin receptors and their ligands, the ephrins, mediate numerous developmental processes, particularly in the nervous system. Based on their structures and sequence relationships, ephrins are divided into the ephrin-A (EFNA) class, which are anchored to

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs377702127	G>A,C	Likely-pathogenic, pathogenic	Synonymous variant, coding sequence variant, stop gained
rs764827256	G>A,C	Likely-pathogenic	Coding sequence variant, missense variant
rs769965440	G>A	Likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs776410552	T>C	Likely-pathogenic	Coding sequence variant, missense variant
rs927772349	C>A,T	Pathogenic	Splice donor variant
rs994651018	G>A,T	Pathogenic	Stop gained, coding sequence variant, synonymous variant
rs1057515420	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs1057519263	C>T	Pathogenic	Missense variant, coding sequence variant
rs1057519264	A>C	Pathogenic	Missense variant, coding sequence variant
rs1484547615	C>A,T	Pathogenic	Coding sequence variant, stop gained, missense variant
rs1562967463	C>G	Pathogenic	Splice donor variant
rs1562969219	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs1562973541	CA>-	Pathogenic	Coding sequence variant, frameshift variant
rs1562973614	->C	Pathogenic	Coding sequence variant, frameshift variant
rs1584651110	AG>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1584652949	A>G	Likely-pathogenic	Missense variant, coding sequence variant
rs1584653005	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs1584653054	A>G	Likely-pathogenic	Missense variant, coding sequence variant
rs1584653620	->A	Pathogenic	Splice donor variant
rs1584653660	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs1584654433	T>C	Likely-pathogenic	Missense variant, coding sequence variant
rs1584658113	C>A	Likely-pathogenic	Missense variant, coding sequence variant
rs1584666961	C>T	Pathogenic	Stop gained, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT006338	hsa-miR-20b-5p	Luciferase reporter assay	22438230
MIRT006338	hsa-miR-20b-5p	Luciferase reporter assay	22438230
MIRT006338	hsa-miR-20b-5p	Luciferase reporter assay	22438230
MIRT017978	hsa-miR-335-5p	Microarray	18185580
MIRT038783	hsa-miR-93-3p	CLASH	23622248
MIRT052757	hsa-miR-1260b	CLASH	23622248
MIRT715569	hsa-miR-6748-3p	HITS-CLIP	19536157
MIRT715568	hsa-miR-4421	HITS-CLIP	19536157
MIRT715567	hsa-miR-5699-3p	HITS-CLIP	19536157
MIRT715566	hsa-miR-519d-5p	HITS-CLIP	19536157
MIRT715565	hsa-miR-5695	HITS-CLIP	19536157
MIRT715564	hsa-miR-6845-3p	HITS-CLIP	19536157
MIRT715563	hsa-miR-6895-3p	HITS-CLIP	19536157
MIRT715562	hsa-miR-593-3p	HITS-CLIP	19536157
MIRT715561	hsa-miR-515-5p	HITS-CLIP	19536157
MIRT715560	hsa-miR-519e-5p	HITS-CLIP	19536157
MIRT715559	hsa-miR-6818-3p	HITS-CLIP	19536157
MIRT499371	hsa-miR-3662	PAR-CLIP	24398324
MIRT499370	hsa-miR-580-5p	PAR-CLIP	24398324
MIRT499369	hsa-miR-624-3p	PAR-CLIP	24398324
MIRT499368	hsa-miR-5584-5p	PAR-CLIP	24398324
MIRT499367	hsa-miR-2277-3p	PAR-CLIP	24398324
MIRT499366	hsa-miR-3148	PAR-CLIP	24398324
MIRT499365	hsa-miR-4668-5p	PAR-CLIP	24398324
MIRT499364	hsa-miR-323a-5p	PAR-CLIP	24398324
MIRT499363	hsa-miR-876-3p	PAR-CLIP	24398324
MIRT499362	hsa-miR-542-3p	PAR-CLIP	24398324
MIRT715569	hsa-miR-6748-3p	HITS-CLIP	19536157
MIRT715568	hsa-miR-4421	HITS-CLIP	19536157
MIRT715567	hsa-miR-5699-3p	HITS-CLIP	19536157
MIRT715566	hsa-miR-519d-5p	HITS-CLIP	19536157
MIRT715565	hsa-miR-5695	HITS-CLIP	19536157
MIRT715564	hsa-miR-6845-3p	HITS-CLIP	19536157
MIRT715563	hsa-miR-6895-3p	HITS-CLIP	19536157
MIRT715562	hsa-miR-593-3p	HITS-CLIP	19536157
MIRT715561	hsa-miR-515-5p	HITS-CLIP	19536157
MIRT715560	hsa-miR-519e-5p	HITS-CLIP	19536157
MIRT715559	hsa-miR-6818-3p	HITS-CLIP	19536157
MIRT499371	hsa-miR-3662	PAR-CLIP	24398324
MIRT499370	hsa-miR-580-5p	PAR-CLIP	24398324
MIRT499369	hsa-miR-624-3p	PAR-CLIP	24398324
MIRT499368	hsa-miR-5584-5p	PAR-CLIP	24398324
MIRT499367	hsa-miR-2277-3p	PAR-CLIP	24398324
MIRT499366	hsa-miR-3148	PAR-CLIP	24398324
MIRT499365	hsa-miR-4668-5p	PAR-CLIP	24398324
MIRT499364	hsa-miR-323a-5p	PAR-CLIP	24398324
MIRT499363	hsa-miR-876-3p	PAR-CLIP	24398324
MIRT499362	hsa-miR-542-3p	PAR-CLIP	24398324
MIRT966719	hsa-miR-106a	CLIP-seq
MIRT966720	hsa-miR-106b	CLIP-seq
MIRT966721	hsa-miR-1197	CLIP-seq
MIRT966722	hsa-miR-124	CLIP-seq
MIRT966723	hsa-miR-1248	CLIP-seq
MIRT966724	hsa-miR-1275	CLIP-seq
MIRT966725	hsa-miR-1302	CLIP-seq
MIRT966726	hsa-miR-130a	CLIP-seq
MIRT966727	hsa-miR-130b	CLIP-seq
MIRT966728	hsa-miR-15a	CLIP-seq
MIRT966729	hsa-miR-15b	CLIP-seq
MIRT966730	hsa-miR-16	CLIP-seq
MIRT966731	hsa-miR-17	CLIP-seq
MIRT966732	hsa-miR-1908	CLIP-seq
MIRT966733	hsa-miR-1913	CLIP-seq
MIRT966734	hsa-miR-1915	CLIP-seq
MIRT966735	hsa-miR-195	CLIP-seq
MIRT966736	hsa-miR-20a	CLIP-seq
MIRT966737	hsa-miR-20b	CLIP-seq
MIRT966738	hsa-miR-299-3p	CLIP-seq
MIRT966739	hsa-miR-301a	CLIP-seq
MIRT966740	hsa-miR-301b	CLIP-seq
MIRT966741	hsa-miR-3122	CLIP-seq
MIRT966742	hsa-miR-3127-3p	CLIP-seq
MIRT966743	hsa-miR-3150a-3p	CLIP-seq
MIRT966744	hsa-miR-3173-3p	CLIP-seq
MIRT966745	hsa-miR-3175	CLIP-seq
MIRT966746	hsa-miR-3199	CLIP-seq
MIRT966747	hsa-miR-323-5p	CLIP-seq
MIRT966748	hsa-miR-324-3p	CLIP-seq
MIRT966749	hsa-miR-331-3p	CLIP-seq
MIRT966750	hsa-miR-342-5p	CLIP-seq
MIRT966751	hsa-miR-3606	CLIP-seq
MIRT966752	hsa-miR-3657	CLIP-seq
MIRT966753	hsa-miR-3666	CLIP-seq
MIRT966754	hsa-miR-3913-5p	CLIP-seq
MIRT966755	hsa-miR-3937	CLIP-seq
MIRT966756	hsa-miR-3943	CLIP-seq
MIRT966757	hsa-miR-3973	CLIP-seq
MIRT966758	hsa-miR-424	CLIP-seq
MIRT966759	hsa-miR-4254	CLIP-seq
MIRT966760	hsa-miR-4259	CLIP-seq
MIRT966761	hsa-miR-4286	CLIP-seq
MIRT966762	hsa-miR-4292	CLIP-seq
MIRT966763	hsa-miR-4295	CLIP-seq
MIRT966764	hsa-miR-4298	CLIP-seq
MIRT966765	hsa-miR-4308	CLIP-seq
MIRT966766	hsa-miR-4313	CLIP-seq
MIRT966767	hsa-miR-4425	CLIP-seq
MIRT966768	hsa-miR-4437	CLIP-seq
MIRT966769	hsa-miR-4453	CLIP-seq
MIRT966770	hsa-miR-4487	CLIP-seq
MIRT966771	hsa-miR-4488	CLIP-seq
MIRT966772	hsa-miR-4538	CLIP-seq
MIRT966773	hsa-miR-454	CLIP-seq
MIRT966774	hsa-miR-4633-3p	CLIP-seq
MIRT966775	hsa-miR-4648	CLIP-seq
MIRT966776	hsa-miR-4651	CLIP-seq
MIRT966777	hsa-miR-4654	CLIP-seq
MIRT966778	hsa-miR-4664-5p	CLIP-seq
MIRT966779	hsa-miR-4665-5p	CLIP-seq
MIRT966780	hsa-miR-4677-3p	CLIP-seq
MIRT966781	hsa-miR-4679	CLIP-seq
MIRT966782	hsa-miR-4695-5p	CLIP-seq
MIRT966783	hsa-miR-4697-5p	CLIP-seq
MIRT966784	hsa-miR-4726-3p	CLIP-seq
MIRT966785	hsa-miR-4738-5p	CLIP-seq
MIRT966786	hsa-miR-4757-5p	CLIP-seq
MIRT966787	hsa-miR-4764-5p	CLIP-seq
MIRT966788	hsa-miR-4769-5p	CLIP-seq
MIRT966789	hsa-miR-497	CLIP-seq
MIRT966790	hsa-miR-506	CLIP-seq
MIRT966791	hsa-miR-519a	CLIP-seq
MIRT966792	hsa-miR-519b-3p	CLIP-seq
MIRT966793	hsa-miR-519c-3p	CLIP-seq
MIRT966794	hsa-miR-519d	CLIP-seq
MIRT966795	hsa-miR-520g	CLIP-seq
MIRT966796	hsa-miR-520h	CLIP-seq
MIRT966797	hsa-miR-542-5p	CLIP-seq
MIRT966798	hsa-miR-608	CLIP-seq
MIRT966799	hsa-miR-615-5p	CLIP-seq
MIRT966800	hsa-miR-635	CLIP-seq
MIRT966801	hsa-miR-663	CLIP-seq
MIRT966802	hsa-miR-93	CLIP-seq
MIRT966803	hsa-miR-939	CLIP-seq
MIRT966719	hsa-miR-106a	CLIP-seq
MIRT966720	hsa-miR-106b	CLIP-seq
MIRT966721	hsa-miR-1197	CLIP-seq
MIRT1986311	hsa-miR-1207-3p	CLIP-seq
MIRT1986312	hsa-miR-1208	CLIP-seq
MIRT966722	hsa-miR-124	CLIP-seq
MIRT966723	hsa-miR-1248	CLIP-seq
MIRT966724	hsa-miR-1275	CLIP-seq
MIRT1986313	hsa-miR-1292	CLIP-seq
MIRT1986314	hsa-miR-1299	CLIP-seq
MIRT966725	hsa-miR-1302	CLIP-seq
MIRT1986315	hsa-miR-1305	CLIP-seq
MIRT966726	hsa-miR-130a	CLIP-seq
MIRT966727	hsa-miR-130b	CLIP-seq
MIRT966731	hsa-miR-17	CLIP-seq
MIRT966732	hsa-miR-1908	CLIP-seq
MIRT966734	hsa-miR-1915	CLIP-seq
MIRT1986316	hsa-miR-205	CLIP-seq
MIRT966736	hsa-miR-20a	CLIP-seq
MIRT966737	hsa-miR-20b	CLIP-seq
MIRT1986317	hsa-miR-296-5p	CLIP-seq
MIRT966738	hsa-miR-299-3p	CLIP-seq
MIRT966739	hsa-miR-301a	CLIP-seq
MIRT966740	hsa-miR-301b	CLIP-seq
MIRT966742	hsa-miR-3127-3p	CLIP-seq
MIRT1986318	hsa-miR-3147	CLIP-seq
MIRT966744	hsa-miR-3173-3p	CLIP-seq
MIRT1986319	hsa-miR-3184	CLIP-seq
MIRT966747	hsa-miR-323-5p	CLIP-seq
MIRT966749	hsa-miR-331-3p	CLIP-seq
MIRT966751	hsa-miR-3606	CLIP-seq
MIRT1986320	hsa-miR-3652	CLIP-seq
MIRT966753	hsa-miR-3666	CLIP-seq
MIRT1986321	hsa-miR-3679-3p	CLIP-seq
MIRT1986322	hsa-miR-376a	CLIP-seq
MIRT1986323	hsa-miR-376b	CLIP-seq
MIRT966755	hsa-miR-3937	CLIP-seq
MIRT966756	hsa-miR-3943	CLIP-seq
MIRT966757	hsa-miR-3973	CLIP-seq
MIRT1986324	hsa-miR-423-5p	CLIP-seq
MIRT1986325	hsa-miR-425	CLIP-seq
MIRT1986326	hsa-miR-4261	CLIP-seq
MIRT966761	hsa-miR-4286	CLIP-seq
MIRT966762	hsa-miR-4292	CLIP-seq
MIRT966763	hsa-miR-4295	CLIP-seq
MIRT966764	hsa-miR-4298	CLIP-seq
MIRT966766	hsa-miR-4313	CLIP-seq
MIRT966767	hsa-miR-4425	CLIP-seq
MIRT1986327	hsa-miR-4430	CLIP-seq
MIRT966768	hsa-miR-4437	CLIP-seq
MIRT1986328	hsa-miR-4446-3p	CLIP-seq
MIRT1986329	hsa-miR-4446-5p	CLIP-seq
MIRT966769	hsa-miR-4453	CLIP-seq
MIRT966770	hsa-miR-4487	CLIP-seq
MIRT966771	hsa-miR-4488	CLIP-seq
MIRT1986330	hsa-miR-4492	CLIP-seq
MIRT1986331	hsa-miR-4498	CLIP-seq
MIRT1986332	hsa-miR-4505	CLIP-seq
MIRT1986333	hsa-miR-4525	CLIP-seq
MIRT1986334	hsa-miR-4527	CLIP-seq
MIRT966772	hsa-miR-4538	CLIP-seq
MIRT966773	hsa-miR-454	CLIP-seq
MIRT966774	hsa-miR-4633-3p	CLIP-seq
MIRT1986335	hsa-miR-4639-3p	CLIP-seq
MIRT966775	hsa-miR-4648	CLIP-seq
MIRT1986336	hsa-miR-4653-3p	CLIP-seq
MIRT966777	hsa-miR-4654	CLIP-seq
MIRT966779	hsa-miR-4665-5p	CLIP-seq
MIRT1986337	hsa-miR-4688	CLIP-seq
MIRT966782	hsa-miR-4695-5p	CLIP-seq
MIRT966783	hsa-miR-4697-5p	CLIP-seq
MIRT1986338	hsa-miR-4723-5p	CLIP-seq
MIRT966784	hsa-miR-4726-3p	CLIP-seq
MIRT1986339	hsa-miR-4728-5p	CLIP-seq
MIRT1986340	hsa-miR-4731-5p	CLIP-seq
MIRT966785	hsa-miR-4738-5p	CLIP-seq
MIRT966787	hsa-miR-4764-5p	CLIP-seq
MIRT966788	hsa-miR-4769-5p	CLIP-seq
MIRT1986341	hsa-miR-4777-3p	CLIP-seq
MIRT1986342	hsa-miR-4781-3p	CLIP-seq
MIRT1986343	hsa-miR-4781-5p	CLIP-seq
MIRT1986344	hsa-miR-4782-5p	CLIP-seq
MIRT966790	hsa-miR-506	CLIP-seq
MIRT1986345	hsa-miR-5096	CLIP-seq
MIRT1986346	hsa-miR-516b	CLIP-seq
MIRT966791	hsa-miR-519a	CLIP-seq
MIRT966792	hsa-miR-519b-3p	CLIP-seq
MIRT966793	hsa-miR-519c-3p	CLIP-seq
MIRT966794	hsa-miR-519d	CLIP-seq
MIRT966795	hsa-miR-520g	CLIP-seq
MIRT966796	hsa-miR-520h	CLIP-seq
MIRT966797	hsa-miR-542-5p	CLIP-seq
MIRT966799	hsa-miR-615-5p	CLIP-seq
MIRT1986347	hsa-miR-625	CLIP-seq
MIRT966800	hsa-miR-635	CLIP-seq
MIRT1986348	hsa-miR-637	CLIP-seq
MIRT1986349	hsa-miR-646	CLIP-seq
MIRT966801	hsa-miR-663	CLIP-seq
MIRT1986350	hsa-miR-744	CLIP-seq
MIRT1986351	hsa-miR-762	CLIP-seq
MIRT1986352	hsa-miR-875-3p	CLIP-seq
MIRT966802	hsa-miR-93	CLIP-seq
MIRT966725	hsa-miR-1302	CLIP-seq
MIRT1986315	hsa-miR-1305	CLIP-seq
MIRT1986317	hsa-miR-296-5p	CLIP-seq
MIRT966744	hsa-miR-3173-3p	CLIP-seq
MIRT966749	hsa-miR-331-3p	CLIP-seq
MIRT966756	hsa-miR-3943	CLIP-seq
MIRT966761	hsa-miR-4286	CLIP-seq
MIRT966762	hsa-miR-4292	CLIP-seq
MIRT966764	hsa-miR-4298	CLIP-seq
MIRT966766	hsa-miR-4313	CLIP-seq
MIRT966782	hsa-miR-4695-5p	CLIP-seq
MIRT1986346	hsa-miR-516b	CLIP-seq
MIRT966800	hsa-miR-635	CLIP-seq
MIRT966742	hsa-miR-3127-3p	CLIP-seq
MIRT966743	hsa-miR-3150a-3p	CLIP-seq
MIRT966744	hsa-miR-3173-3p	CLIP-seq
MIRT966745	hsa-miR-3175	CLIP-seq
MIRT966752	hsa-miR-3657	CLIP-seq
MIRT966761	hsa-miR-4286	CLIP-seq
MIRT966782	hsa-miR-4695-5p	CLIP-seq
MIRT966800	hsa-miR-635	CLIP-seq
MIRT966803	hsa-miR-939	CLIP-seq
MIRT1986313	hsa-miR-1292	CLIP-seq
MIRT2442139	hsa-miR-133a	CLIP-seq
MIRT2442140	hsa-miR-133b	CLIP-seq
MIRT1986334	hsa-miR-4527	CLIP-seq
MIRT1986335	hsa-miR-4639-3p	CLIP-seq
MIRT2442141	hsa-miR-4734	CLIP-seq
MIRT2442142	hsa-miR-4753-3p	CLIP-seq
MIRT2442143	hsa-miR-9	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001525	Process	Angiogenesis	ISS
GO:0002042	Process	Cell migration involved in sprouting angiogenesis	IDA	12734395
GO:0003007	Process	Heart morphogenesis	ISS
GO:0004714	Function	Transmembrane receptor protein tyrosine kinase activity	IBA	21873635
GO:0004714	Function	Transmembrane receptor protein tyrosine kinase activity	IDA	8188704
GO:0005003	Function	Ephrin receptor activity	IDA	12734395, 15930280
GO:0005005	Function	Transmembrane-ephrin receptor activity	IBA	21873635
GO:0005515	Function	Protein binding	IPI	16867992, 26481148, 28514442, 30578106
GO:0005524	Function	ATP binding	IEA
GO:0005576	Component	Extracellular region	TAS
GO:0005829	Component	Cytosol	TAS
GO:0005886	Component	Plasma membrane	TAS
GO:0005887	Component	Integral component of plasma membrane	IBA	21873635
GO:0005887	Component	Integral component of plasma membrane	IDA	8188704
GO:0007155	Process	Cell adhesion	IDA	12734395
GO:0007169	Process	Transmembrane receptor protein tyrosine kinase signaling pathway	IBA	21873635
GO:0007275	Process	Multicellular organism development	IBA	21873635
GO:0007411	Process	Axon guidance	IBA	21873635
GO:0018108	Process	Peptidyl-tyrosine phosphorylation	IEA
GO:0033674	Process	Positive regulation of kinase activity	IBA	21873635
GO:0043005	Component	Neuron projection	IBA	21873635
GO:0043235	Component	Receptor complex	IBA	21873635
GO:0046777	Process	Protein autophosphorylation	IDA	8188704
GO:0048013	Process	Ephrin receptor signaling pathway	IDA	12734395
GO:0048013	Process	Ephrin receptor signaling pathway	TAS
GO:0070062	Component	Extracellular exosome	HDA	23533145

Other IDs

• MIM: 600011
• HGNC: 3395
• e!Ensembl: ENSG00000196411

Protein

• UniProt ID: P54760
• Protein name: Ephrin type-B receptor 4 (EC 2.7.10.1) (Hepatoma transmembrane kinase) (Tyrosine-protein kinase TYRO11)
• Protein function: Receptor tyrosine kinase which binds promiscuously transmembrane ephrin-B family ligands residing on adjacent cells, leading to contact-dependent bidirectional signaling into neighboring cells. The signaling pathway downstream of the receptor is
• PDB: 2BBA, 2E7H, 2HLE, 2QKQ, 2VWU, 2VWV, 2VWW, 2VWX, 2VWY, 2VWZ, 2VX0, 2VX1, 2X9F, 2XVD, 2YN8, 3ZEW, 4AW5, 4BB4, 6FNI, 6FNJ, 6FNK, 6FNL, 6FNM
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF01404	Ephrin_lbd	18 → 197	Ephrin receptor ligand binding domain	Domain
  PF07699	Ephrin_rec_like	258 → 304	Putative ephrin-receptor like	Family
  PF00041	fn3	325 → 417	Fibronectin type III domain	Domain
  PF00041	fn3	435 → 519	Fibronectin type III domain	Domain
  PF14575	EphA2_TM	541 → 612	Ephrin type-A receptor 2 transmembrane domain	Domain
  PF07714	PK_Tyr_Ser-Thr	615 → 874	Protein tyrosine and serine/threonine kinase	Domain
  PF00536	SAM_1	905 → 969	SAM domain (Sterile alpha motif)	Domain

• Tissue specificity: TISSUE SPECIFICITY: Abundantly expressed in placenta but also detected in kidney, liver, lung, pancreas, skeletal muscle and heart. Expressed in primitive and myeloid, but not lymphoid, hematopoietic cells. Also observed in cell lines derived from liver,
• Sequence:

  MELRVLLCWASLAAALEETLLNTKLETADLKWVTFPQVDGQWEELSGLDEEQHSVRTYEV
  CDVQRAPGQAHWLRTGWVPRRGAVHVYATLRFTMLECLSLPRAGRSCKETFTVFYYESDA
  DTATALTPAWMENPYIKVDTVAAEHLTRKRPGAEATGKVNVKTLRLGPLSKAGFYLAFQD
  QGACMALLSLHLFYKKCAQLTVNLTRFPETVPRELVVPVAGSCVVDAVPAPGPSPSLYCR
  EDGQWAEQPVTGCSCAPGFEAAEGNTKCRACAQGTFKPLSGEGSCQPCPANSHSNTIGSA
  VCQCRVGYFRARTDPRGAPCTTPPSAPRSVVSRLNGSSLHLEWSAPLESGGREDLTYALR
  CRECRPGGSCAPCGGDLTFDPGPRDLVEPWVVVRGLRPDFTYTFEVTALNGVSSLATGPV
  PFEPVNVTTDREVPPAVSDIRVTRSSPSSLSLAWAVPRAPSGAVLDYEVKYHEKGAEGPS
  SVRFLKTSENRAELRGLKRGASYLVQVRARSEAGYGPFGQEHHSQTQLDESEGWREQLAL
  IAGTAVVGVVLVLVVIVVAVLCLRKQSNGREAEYSDKHGQYLIGHGTKVYIDPFTYEDPN
  EAVREFAKEIDVSYVKIEEVIGAGEFGEVCRGRLKAPGKKESCVAIKTLKGGYTERQRRE
  FLSEASIMGQFEHPNIIRLEGVVTNSMPVMILTEFMENGALDSFLRLNDGQFTVIQLVGM
  LRGIASGMRYLAEMSYVHRDLAARNILVNSNLVCKVSDFGLSRFLEENSSDPTYTSSLGG
  KIPIRWTAPEAIAFRKFTSASDAWSYGIVMWEVMSFGERPYWDMSNQDVINAIEQDYRLP
  PPPDCPTSLHQLMLDCWQKDRNARPRFPQVVSALDKMIRNPASLKIVARENGGASHPLLD
  QRQPHYSAFGSVGEWLRAIKMGRYEESFAAAGFGSFELVSQISAEDLLRIGVTLAGHQKK
  ILASVQHMKSQAKPGTPGGTGGPAPQY

• Sequence length: 987

Pathways

KEGG:

Axon guidance

Reactome:

EPH-Ephrin signaling
EPHB-mediated forward signaling
Ephrin signaling
EPH-ephrin mediated repulsion of cells

Associated diseases

Causal
Disease term	Disease name	dbSNP ID	References
Breast cancer	Malignant neoplasm of breast	rs587776547, rs1137887, rs137853007, rs587776650, rs80359351, rs80359714, rs121917783, rs104886456, rs121964878, rs80359874, rs80357868, rs80357508, rs387906843, rs80357569, rs80358158, rs80357524, rs80357115, rs80357945, rs80357729, rs80357609, rs80357259, rs80357981, rs80358063, rs80357389, rs80356862, rs80359876, rs80357580, rs80358053, rs80358089, rs80187739, rs397507241, rs80358069, rs80357590, rs80357284, rs80357941, rs80359261, rs80359272, rs80359276, rs276174813, rs80358474, rs80359316, rs1555282969, rs80359388, rs80359499, rs80359505, rs80359520, rs80359526, rs80359533, rs56253082, rs80358824, rs80359554, rs80359636, rs80359651, rs80359659, rs80359011, rs80359012, rs80359013, rs80359718, rs397507410, rs81002812, rs80359730, rs80359152, rs80359159, rs397507419, rs28897759, rs80359211, rs80359775, rs397514577, rs397507584, rs80358435, rs80358456, rs80359340, rs80359343, rs80359365, rs80358579, rs397507670, rs80358593, rs80359406, rs80359444, rs80359454, rs276174853, rs276174854, rs80359483, rs80359537, rs80358815, rs80358843, rs80359558, rs80359560, rs80359594, rs80358893, rs28897743, rs397507900, rs397507906, rs397507918, rs80358971, rs80358981, rs397507941, rs80359030, rs80359035, rs41293511, rs397507396, rs81002806, rs80359112, rs397508006, rs81002893, rs45580035, rs80359760, rs397508051, rs80359772, rs4987049, rs80359777, rs80357770, rs397508867, rs62625303, rs397508874, rs80357506, rs80357287, rs273898674, rs80358042, rs80358083, rs80357058, rs41286296, rs80357960, rs80356945, rs80357223, rs386134270, rs80358116, rs80357856, rs80357424, rs397509050, rs80357485, rs80357966, rs397509067, rs80357310, rs80356866, rs80357260, rs80357437, rs80358023, rs80358086, rs80357133, rs80356993, rs80357997, rs80357239, rs80357227, rs397509243, rs80356969, rs80356959, rs63750617, rs63751319, rs587779315, rs200640585, rs398122546, rs80357543, rs398122687, rs80359328, rs398122779, rs398122783, rs62517194, rs80358029, rs515726060, rs180177103, rs180177111, rs180177133, rs587776527, rs180177135, rs180177136, rs515726117, rs587779813, rs587779909, rs587780024, rs587780100, rs28909982, rs121908698, rs180177100, rs587780210, rs587780240, rs587780639, rs587781269, rs587781353, rs587781471, rs587781658, rs587781697, rs587781730, rs587781894, rs587781948, rs587782005, rs587782011, rs200928781, rs587781558, rs370228071, rs587782245, rs587782401, rs180177110, rs587782504, rs72552322, rs587782531, rs587782620, rs587782680, rs587782774, rs587782818, rs730881411, rs730881389, rs564652222, rs397507768, rs587776419, rs730881868, rs730881940, rs56383036, rs758972589, rs201089102, rs730881348, rs786202608, rs786201886, rs786203318, rs786203775, rs786203714, rs786202033, rs750621215, rs786203884, rs786203650, rs772821016, rs863224521, rs864622223, rs864622655, rs375699023, rs876659572, rs768362387, rs876659535, rs876658957, rs483353072, rs876659435, rs267608041, rs876661113, rs730881369, rs878853535, rs772228129, rs878855122, rs760551339, rs80359596, rs397509222, rs886039630, rs886039683, rs886040828, rs587781799, rs886040374, rs886040649, rs397507967, rs878854957, rs886040043, rs1057517589, rs1060502769, rs866380588, rs863224765, rs1064793243, rs747563556, rs1555074976, rs1064795885, rs753961188, rs1064794708, rs869312772, rs1064793887, rs1131690820, rs1135401928, rs1135401868, rs1135401859, rs1553370324, rs397507630, rs1555283160, rs1555283251, rs1555283262, rs1555283361, rs1555286298, rs1555288462, rs886040950, rs1555289566, rs776323117, rs80357123, rs1555579627, rs1555580697, rs80358054, rs1555593302, rs1328985852, rs763470424, rs1555139694, rs878854697, rs1555461217, rs1555461765, rs774684620, rs766416564, rs1554558613, rs1305740166, rs1555461460, rs1555461407, rs1555461586, rs1555567202, rs1555607022, rs1555069815, rs1442299125, rs1474786480, rs1555084947, rs1555457867, rs141087784, rs1482641121, rs1564830522, rs1565469955, rs1565503137, rs864622613, rs755263466, rs757679199, rs1593903166, rs1597801649, rs1603293306, rs879253880, rs80358754, rs1597062038, rs45494092, rs1603275367, rs887358871, rs1597091518, rs1966967065, rs1064793049, rs2082872908, rs2085078278, rs2072475243	23063927
Breast carcinoma	Breast Carcinoma	rs80359671, rs11540652, rs28934575, rs28897672, rs137886232, rs193922376, rs80357783, rs80359306, rs80359405, rs80359507, rs80359598, rs80358429, rs397507683, rs397515636, rs80359451, rs397507859, rs80359709, rs80359742, rs80359205, rs80357627, rs80357004, rs80357571, rs80357767, rs80357653, rs80358086, rs80357608, rs28897696, rs41293465, rs146650273, rs63751017, rs63750617, rs63750726, rs63750199, rs63749848, rs398122618, rs398122653, rs397509211, rs80357791, rs121912666, rs587778541, rs121908698, rs536907995, rs587781302, rs140342925, rs587781506, rs587782652, rs587782849, rs587783057, rs139770721, rs374950566, rs786202800, rs863224451, rs377153250, rs747727055, rs876658804, rs780001540, rs760815829, rs878854926, rs775248597, rs886040658, rs886040192, rs786203523, rs886040319, rs397508006, rs587782011, rs1060502772, rs1555461727, rs1553333072, rs1114167702, rs1257401983, rs886040950, rs1060502759, rs774684620, rs142947311, rs1555580883, rs748513310, rs376170600, rs863224499, rs1593909229, rs748453607, rs1294578913, rs1574737047, rs1593909960, rs2081922847, rs2082559544, rs2053694038	23063927
Capillary malformation-arteriovenous malformation	CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION 2	rs797044451, rs137853217, rs137853218, rs1348578241, rs1580386963, rs878854569, rs1060503441, rs1060503439, rs1554049394, rs1554050230, rs1554050584, rs1384480619, rs1554045819, rs983011713, rs1204340475, rs1561331089, rs776410552, rs1562976493, rs1562973541, rs1562969219, rs927772349, rs1584653620, rs1562973614, rs377702127, rs1584653054, rs1584658113, rs1484547615, rs1584666961, rs1758886343	28730721, 29444212, 28687708, 30760892, 30578106
Gastric cancer	Gastric Adenocarcinoma	rs137854571, rs63751108, rs34612342, rs121908383, rs121909144, rs121909775, rs121909219, rs121909223, rs63750871, rs80359530, rs121964873, rs121913530, rs606231203, rs121918505, rs587776802, rs28933369, rs121912469, rs80358011, rs397507262, rs80359439, rs397507333, rs80359543, rs80358831, rs80359596, rs80358920, rs80358972, rs80359659, rs397507404, rs397514661, rs80359516, rs200495564, rs80358419, rs80359274, rs80359283, rs80358427, rs80358428, rs80358435, rs81002805, rs397507660, rs397507663, rs80359391, rs80359443, rs81002797, rs80359466, rs397507752, rs80359484, rs80359603, rs397507954, rs80359058, rs80359071, rs397507981, rs80359121, rs80357086, rs80357064, rs397508936, rs80357695, rs80357661, rs397509035, rs80357544, rs80357577, rs80357881, rs80357296, rs80356923, rs80356866, rs80357504, rs80357390, rs80357239, rs80358099, rs397509284, rs80357258, rs199474738, rs199474747, rs587779204, rs63750439, rs267608076, rs587779246, rs63749999, rs267608078, rs63751327, rs267607719, rs267607734, rs63750706, rs63751711, rs587779047, rs587779075, rs267607949, rs63750633, rs63750803, rs63751618, rs267608154, rs200640585, rs80358018, rs80357857, rs80357882, rs180177103, rs587779815, rs587779865, rs587779872, rs587780059, rs121912666, rs587780088, rs587780104, rs200432447, rs180177100, rs587780226, rs587780784, rs587776416, rs587781276, rs587781629, rs587781694, rs587781727, rs587781730, rs587781807, rs587781894, rs587781948, rs121913344, rs587782292, rs587782350, rs587782558, rs587782719, rs587782885, rs587783057, rs730881833, rs730881411, rs730881336, rs139770721, rs730881869, rs730881633, rs730882007, rs786203115, rs765123255, rs1553333738, rs762083530, rs786202800, rs17174393, rs55996097, rs750621215, rs786203451, rs747604569, rs764389018, rs786204433, rs786204862, rs772821016, rs779582317, rs863225406, rs193922343, rs759965045, rs63749919, rs760228510, rs746481984, rs762307622, rs876659736, rs876660933, rs747727055, rs1450394308, rs876658348, rs876658431, rs876659326, rs876660444, rs730881369, rs878853865, rs753862052, rs587780024, rs138941496, rs886040739, rs886040744, rs886040347, rs878854957, rs886040123, rs398122662, rs886040942, rs1057517104, rs1057516320, rs1057516683, rs879254046, rs1057517253, rs587781927, rs985033810, rs1057519989, rs775464903, rs374230313, rs758304323, rs1060501599, rs758081262, rs1060500126, rs1060502734, rs587776408, rs1060501695, rs1114167816, rs1114167596, rs1114167667, rs1555460315, rs1135402788, rs1554086196, rs730881919, rs773356478, rs769237459, rs1553653158, rs587782087, rs1555107263, rs1555119940, rs1403784434, rs1342519012, rs751710099, rs1553616361, rs1553619721, rs1270783041, rs775036118, rs1555288557, rs1555460548, rs1555461154, rs1298667185, rs1553622218, rs63751101, rs1349928568, rs771936821, rs1021662947, rs1555921011, rs81002831, rs1555124506, rs1555574803, rs1060502716, rs1555605362, rs747057367, rs1565385010, rs1567554500, rs1567516230, rs1558644995, rs1555591308, rs778306619, rs1566231194, rs1603328466, rs1570406302, rs1586108714, rs768362387, rs1597713777, rs1060502926, rs1597867185, rs1591517571, rs1591663236, rs1593903006, rs1555284779, rs1597096243, rs45459799, rs1597360340, rs587781905, rs864622481, rs1601753141, rs1966858562, rs1966967065, rs1967016153, rs1967113484, rs2080473458, rs1591387978, rs1224428422, rs1597747184, rs2082309297, rs2051929740, rs147542208
Hydrops fetalis	Hydrops Fetalis, Non-Immune	rs28935477, rs1131691986
Inflammatory bowel disease	Inflammatory Bowel Diseases	rs137853579, rs137853580, rs121909601, rs149491038, rs368287711, rs387907326, rs587777338, rs758439420, rs1329427406, rs1264862631, rs1192830343, rs1373354533, rs1419560997, rs1591263883, rs1989014468	26192919
Lymphatic malformation	LYMPHATIC MALFORMATION 7	rs267606847, rs267606846, rs587777566, rs587777567, rs786205669, rs869025596, rs869025597, rs869025598, rs869025599, rs869025600, rs869025601, rs1057519263, rs1057519264, rs587776992, rs934897228, rs1569227576, rs1569133268, rs1569226110, rs1569141899, rs1569124017, rs1562967463, rs1567659736, rs1166021430, rs1584651110, rs1574226259	27400125, 29905864
Marfan syndrome	Mammary Carcinoma, Human	rs137854456, rs137854457, rs267606796, rs137854458, rs137854459, rs137854460, rs137854470, rs137854471, rs267606797, rs137854461, rs137854462, rs137854463, rs869025419, rs137854464, rs137854465, rs137854466, rs137854467, rs387906547, rs387906548, rs137854469, rs137854473, rs1131692050, rs112989722, rs137854474, rs137854476, rs140593, rs1555395819, rs137854478, rs137854479, rs137854480, rs137854481, rs137854482, rs137854483, rs137854484, rs137854485, rs112289537, rs193922181, rs193922182, rs193922185, rs140603, rs193922187, rs193922188, rs193921256, rs112660651, rs193922193, rs193922194, rs193922197, rs193922198, rs193922199, rs193922203, rs193922204, rs193922205, rs193922206, rs111401431, rs193922207, rs113871094, rs111671429, rs193922216, rs193922219, rs193922220, rs193922223, rs193922224, rs193922225, rs193922226, rs193922227, rs193922228, rs193922230, rs193922235, rs147195031, rs193922236, rs193922239, rs193922240, rs193922241, rs193922246, rs397514558, rs398122934, rs397515753, rs397515754, rs397515755, rs397515756, rs397515757, rs113812345, rs397515758, rs397515759, rs397515762, rs25403, rs397515765, rs397515766, rs397515767, rs397515768, rs397515769, rs397515770, rs397515771, rs25404, rs397515773, rs397515774, rs397515775, rs397515776, rs397515778, rs397515779, rs397515781, rs112202622, rs397515782, rs397515784, rs397515785, rs397515786, rs397515788, rs397515789, rs397515790, rs397515791, rs397515792, rs397515793, rs397515794, rs397515797, rs397515798, rs397515799, rs397515801, rs397515802, rs397515803, rs397515804, rs397515805, rs397515808, rs397515810, rs397515811, rs397515812, rs111231312, rs267606798, rs397515814, rs113905529, rs397515816, rs397515817, rs397515818, rs397515819, rs397515820, rs363853, rs113249837, rs397515821, rs111929350, rs397515823, rs397515824, rs113086760, rs397515825, rs397515826, rs397515827, rs363807, rs397515828, rs397515829, rs397515830, rs397515831, rs397515833, rs111687884, rs113080385, rs397515834, rs397515836, rs113001196, rs397515840, rs397515845, rs397515846, rs397515847, rs397515848, rs397515851, rs397515852, rs397515853, rs397515854, rs111856492, rs397515859, rs397515861, rs397515863, rs397515864, rs397515865, rs397515866, rs397515867, rs137854855, rs199474693, rs587782944, rs587782947, rs587782948, rs672601352, rs876658120, rs727504651, rs727503054, rs727504315, rs727504411, rs727503057, rs727504454, rs200309328, rs363811, rs727504410, rs363821, rs727504347, rs727505006, rs727505110, rs730880356, rs727505269, rs727503058, rs727504421, rs730880107, rs730880104, rs730880103, rs730880102, rs730880101, rs730880106, rs730880100, rs730880105, rs730880099, rs112645512, rs730880108, rs730880098, rs730880097, rs794728321, rs794728283, rs794728280, rs794728336, rs794728272, rs794728160, rs794728271, rs794728270, rs794728319, rs794728262, rs794728251, rs76702162, rs794728335, rs794728334, rs794728246, rs763091520, rs794728333, rs794728237, rs761857514, rs794728234, rs140630, rs794728231, rs794728228, rs794728225, rs794728308, rs794728216, rs794728221, rs763449629, rs201058219, rs794728210, rs794728208, rs794728206, rs794728199, rs794728195, rs794728194, rs794728193, rs794728190, rs1555399381, rs794728176, rs1555399968, rs113422242, rs794728326, rs794728166, rs794728325, rs794728165, rs794728162, rs794728213, rs869025417, rs112642323, rs869025416, rs869025415, rs869025424, rs869025423, rs869025414, rs869025422, rs869025413, rs869025412, rs869025411, rs869025418, rs869025426, rs869025406, rs869025421, rs869025425, rs869025404, rs869025420, rs869025403, rs398122833, rs876657645, rs878853686, rs878853676, rs886038919, rs886038795, rs187553035, rs886038869, rs886038949, rs886038967, rs886038976, rs886038848, rs886038940, rs886038877, rs886039038, rs886038817, rs886038963, rs886039036, rs886038797, rs886039550, rs886041482, rs1057517855, rs1057518912, rs1057518973, rs1057519502, rs1057521100, rs1057521102, rs1057518881, rs1057520617, rs1057521101, rs1555394445, rs369058466, rs1060501069, rs1060501031, rs778966916, rs1060501043, rs1555397663, rs1060501017, rs1060501094, rs1060501065, rs1555393848, rs1555394151, rs1060501051, rs1060501013, rs1060501054, rs1060501048, rs1060501089, rs1060501039, rs1555398160, rs1060501022, rs1060501024, rs1060501086, rs1060501058, rs1060501036, rs1060501100, rs1060501042, rs1060501059, rs1555397743, rs1060501021, rs1060501027, rs1060501096, rs1060501038, rs1060501050, rs1064794130, rs112118237, rs1064793980, rs1064793118, rs1064793636, rs1064794282, rs1064793559, rs1085307921, rs1085308004, rs1085307468, rs112907302, rs1131691479, rs1131691373, rs1131691467, rs1131691938, rs1131691311, rs1131691806, rs1131691317, rs1555393827, rs363804, rs1555397738, rs1555399144, rs1555400274, rs1555394195, rs1555398836, rs113543334, rs1555399825, rs1555394626, rs1555395256, rs1555395257, rs1555396427, rs1555397548, rs1555398173, rs1555404803, rs1232880706, rs1555393825, rs1555394567, rs1555396998, rs1555394928, rs1555397203, rs112375043, rs1555397720, rs140599, rs1555399150, rs1555400373, rs1555405041, rs1555395229, rs1555397671, rs775417975, rs1555398774, rs1555399368, rs1555394904, rs1555395987, rs1555397424, rs1555398377, rs1555398835, rs1555401011, rs1555405043, rs1555394580, rs1555397404, rs1555398511, rs1555395826, rs1555399372, rs1555399821, rs1555399836, rs1555400063, rs363810, rs1555397655, rs1555395756, rs1555395742, rs1555393844, rs112550005, rs1555395002, rs1555395658, rs765387131, rs1555396429, rs1555396835, rs1555397014, rs1555397016, rs778710767, rs1555397557, rs1555397704, rs140648, rs1555398406, rs1555398681, rs1555399257, rs1555399361, rs1555399764, rs1555405056, rs1555393510, rs1555395980, rs1555396789, rs1555399094, rs1555399378, rs1555399816, rs1555395645, rs371097218, rs1555398278, rs1555394238, rs1555396418, rs1206813753, rs1555399271, rs1555405044, rs113544411, rs1555395663, rs1555397216, rs1555398989, rs1555399149, rs1555401670, rs1555395001, rs1445085747, rs1555393538, rs1555393565, rs1404133653, rs1555394450, rs1555394581, rs1555394633, rs1555394900, rs1555395189, rs1555395261, rs1052480459, rs1555395480, rs1555395670, rs363806, rs1555395820, rs1555396419, rs1555396765, rs1296209846, rs794728233, rs1555396853, rs1555396863, rs1555397197, rs1555397204, rs1555397212, rs1555397713, rs1555397736, rs1555398139, rs1555398144, rs1555398409, rs1555398510, rs1555398520, rs1555398524, rs1555398667, rs1555399089, rs1555399482, rs1555399763, rs1555401002, rs794728323, rs1555393508, rs1555393514, rs1555393525, rs1555393532, rs1555393653, rs1555393657, rs1555393824, rs1555393831, rs112196241, rs1555393847, rs1555393862, rs1555393863, rs1555393866, rs113935744, rs1555393882, rs1555393886, rs1555393889, rs1555394138, rs1555394144, rs1555394146, rs1555394148, rs1555394149, rs1555394152, rs1555394153, rs1555394189, rs1555394197, rs1555394206, rs1555394212, rs1555394218, rs1555394220, rs1555394235, rs1555394245, rs1555394246, rs1057520728, rs1555394390, rs1555394391, rs537570299, rs1555394397, rs1555394398, rs1555394399, rs1555394402, rs1555394407, rs1555394412, rs1555394435, rs1555394436, rs1555394441, rs1555394556, rs1555394557, rs1555394559, rs1555394561, rs1555394570, rs397515844, rs1555394571, rs1555394574, rs1555394579, rs1555394582, rs534811966, rs111588631, rs1555394628, rs1555394629, rs1555394630, rs1555394631, rs1555394641, rs1555394644, rs1555394647, rs1555394756, rs886051245, rs1555394775, rs1555394776, rs1555394777, rs1555394779, rs1555394780, rs1555394783, rs1555394901, rs1555394906, rs1555394925, rs794728253, rs886039158, rs1555395013, rs1555395187, rs1555395188, rs1555395203, rs1555395205, rs363815, rs1246984265, rs794728245, rs1555395263, rs1555395267, rs1555395456, rs1555395475, rs1555395482, rs1555395638, rs1555395641, rs1555395648, rs1555395653, rs1555395659, rs111239111, rs1555395745, rs1555395747, rs1555395753, rs1555395757, rs1555395766, rs1555395767, rs1555395843, rs1555395846, rs1555395849, rs1555395978, rs1555395981, rs1555395984, rs1555395989, rs1555395990, rs1260109901, rs1555396186, rs1555396188, rs1555396198, rs1555396199, rs1555396201, rs1555396202, rs1555396205, rs1555396213, rs1555396424, rs1555396426, rs1555396428, rs1555396435, rs1555396630, rs1555396635, rs1555396636, rs1555396639, rs1555396757, rs1555396769, rs1555396838, rs1555396844, rs140627, rs1555396858, rs1555396990, rs1555396991, rs1555396993, rs769588424, rs1555397022, rs1555397024, rs1555397160, rs1555397174, rs1555397176, rs1555397193, rs1555397209, rs1555397210, rs1555397214, rs1060501076, rs113082854, rs113693945, rs111978932, rs1555397403, rs1555397419, rs1555397420, rs1555397421, rs1555397536, rs1555397537, rs1555397540, rs1555397542, rs1555397543, rs1555397545, rs1555397546, rs1555397670, rs1555397692, rs1555397718, rs1555397723, rs1555397744, rs113393517, rs1555398148, rs1555398152, rs1555398174, rs1555398176, rs1555398179, rs1555398282, rs1555398287, rs1555398380, rs1555398394, rs1555398397, rs1555398401, rs1555398404, rs1555398407, rs1555398413, rs1555398501, rs1555398508, rs1555398512, rs1555398513, rs1555398515, rs1555398521, rs794728205, rs1555398527, rs1555398551, rs1060501075, rs1555398566, rs1555398572, rs1555398580, rs1555398582, rs140597, rs1555398622, rs1555398624, rs1555398625, rs112547596, rs1555398627, rs1555398633, rs1555398637, rs1555398642, rs778867355, rs1555398648, rs1555398659, rs1293095681, rs1060501040, rs987202268, rs1555398672, rs1555398673, rs1555398677, rs1555398793, rs1555398803, rs1555398811, rs1555398826, rs1555398833, rs1555398974, rs1555398981, rs778900586, rs1555398988, rs1555398994, rs1555398995, rs1555398996, rs1555399093, rs869025405, rs1555399101, rs1555399146, rs1555399160, rs1555399162, rs1555399164, rs1555399165, rs1555399193, rs1555399195, rs1555399202, rs1555399204, rs1555399206, rs201778577, rs1555399210, rs1555399214, rs1555399270, rs1555399273, rs1555399281, rs1555399371, rs1555399385, rs1555399477, rs1555399484, rs1555399761, rs1555399775, rs1555399802, rs1555399804, rs1555399837, rs1555399840, rs1555399940, rs1555399944, rs1555399949, rs1555399953, rs1555399954, rs1555399955, rs1555399959, rs1555399962, rs1555399963, rs1060501041, rs1555399974, rs1555399976, rs1555399977, rs1555400049, rs794728172, rs1555400062, rs1555400064, rs1555400066, rs1555400267, rs1555400268, rs1555400278, rs794728168, rs1555400279, rs1156747241, rs1555400288, rs1555400371, rs1555400372, rs1555400379, rs1555400385, rs587782943, rs1555400387, rs1555400406, rs1439533354, rs746201757, rs1555400595, rs1555400603, rs1555400604, rs1555400606, rs1555400609, rs752010116, rs1555400612, rs1555400616, rs1555401004, rs1555401005, rs146348130, rs1555401667, rs1555401671, rs1555401676, rs1555401679, rs1555401687, rs1555401689, rs1555401695, rs1555401697, rs1555401701, rs1555404799, rs1555404800, rs200295020, rs1555404810, rs1555404820, rs1555405031, rs1555405039, rs1555405045, rs1555405530, rs794728292, rs1555405533, rs1555405536, rs1555405537, rs111764111, rs1555405658, rs1555405664, rs774371494, rs1555405673, rs1555407399, rs1555407414, rs1555407423, rs1555407429, rs886041536, rs1555404806, rs1566911709, rs1566913974, rs1566894226, rs1566895223, rs1566897376, rs1566902526, rs1566915277, rs1566897374, rs1566897420, rs1566891655, rs1346043320, rs1566922396, rs1566891706, rs1566894783, rs1566913670, rs1555394196, rs1566891454, rs1566891406, rs1566891404, rs1566895262, rs1566891645, rs1566895225, rs1566896114, rs1566898399, rs1566904011, rs1566906537, rs1566908956, rs1566909766, rs1566919599, rs1566937712, rs1566915335, rs1566891675, rs1566904526, rs1566906506, rs1566900540, rs1566894230, rs1555395206, rs1566891797, rs1597512576, rs1597523873, rs1597581001, rs1597516325, rs1057524757, rs1597506641, rs1597520781, rs1597593695, rs1597529829, rs1597520625, rs1597579923, rs1597531796, rs1008275504, rs1597567249, rs1597569265, rs1597652471, rs1597516347, rs1597577114, rs1597633163, rs1597519658, rs1597593852, rs1597516501, rs1566913982, rs1555393859, rs1597513708, rs368978109, rs1480832655, rs1597520683, rs1597522390, rs1597522553, rs1597529748, rs1597533707, rs1597537815, rs1597545309, rs1597545836, rs1597563234, rs1597563280, rs1597564359, rs772108557, rs1597568968, rs1597574236, rs1597574308, rs1597577975, rs193922179, rs1597581005, rs1597593736, rs1597623670, rs1597625734, rs1597631662, rs113604459, rs1597633183, rs1597633219, rs1597518951, rs1555394781, rs1597525871, rs1597526073, rs1597569159, rs1597569536, rs1597563934, rs1597545199, rs1364210063, rs1597552583, rs1597520619, rs1597540854, rs1597591602, rs1597569551, rs1597548716, rs1597553721, rs112728248, rs1597537858, rs1597517935, rs1597540907, rs1597552388, rs1597591643, rs1597529841, rs1597506547, rs1597509836, rs1597529686, rs1566897404, rs1597533713, rs1597543486, rs1597545257, rs1597545345, rs1597548672, rs1597562812, rs1597563287, rs1597571391, rs1555400052, rs1597583989, rs363852, rs1597547226, rs363808, rs974604498, rs2043595650, rs2043526284, rs2042997306, rs1555397195, rs886039054, rs1555397213, rs2042873946	23063927
Tetralogy of fallot	Tetralogy of Fallot	rs28939668, rs727504412, rs864321649, rs774966208, rs876660981, rs886044220, rs1114167357, rs1569484126, rs1569484164, rs1569484122, rs1569484124, rs1569484042, rs1569484120, rs1569484299, rs1569484301, rs1569484288	19597493, 27760138

Unknown
Disease term	Disease name	Evidence	References	Source
Crohn disease	Crohn Disease		26192919	ClinVar
Vein of galen aneurysm	Vein of Galen aneurysm		29444212	ClinVar
Capillary Malformation-Arteriovenous Malformation	capillary malformation-arteriovenous malformation syndrome			GenCC
Takayasu Arteritis	Takayasu Arteritis			GWAS
Inflammatory Bowel Disease	Inflammatory Bowel Disease			GWAS
Ulcerative colitis	Ulcerative colitis			GWAS
Crohn Disease	Crohn Disease			GWAS
Diabetes	Diabetes			GWAS

Associations from Text Mining
Disease Name	Relationship Type	References
Adenocarcinoma	Associate	29769567
Adenocarcinoma of Lung	Associate	32733636
Adenoma	Stimulate	21393996
Aneuploidy	Associate	15029258
Arteriovenous Malformations	Associate	28687708
Bone Diseases	Associate	19664212
Brain Diseases	Associate	28214829
Breast Neoplasms	Associate	12031094, 15029258, 23063927, 23295955, 24427781, 25831049, 26191333, 27072235, 32635943
Capillary Malformation Arteriovenous Malformation	Associate	28687708, 30760892, 32286515, 32635943, 33864021
Carcinogenesis	Stimulate	23138393
Carcinogenesis	Associate	24656654
Carcinoma Non Small Cell Lung	Associate	27827952, 34445227
Carcinoma Papillary	Associate	26220827
Carcinoma Renal Cell	Associate	25391996
Central Nervous System Vascular Malformations	Associate	32635943
Cholangiocarcinoma	Associate	25012246
Chromosomal Instability	Associate	20031623
Colonic Neoplasms	Associate	11920461, 27273865
Colorectal Neoplasms	Associate	27273865
Crohn Disease	Associate	31211845
Drug Related Side Effects and Adverse Reactions	Associate	27273865
Endometrial Hyperplasia	Associate	12562648
Endometrial Neoplasms	Associate	12562648, 17108150
Esophageal Neoplasms	Associate	36632458
Esophageal Squamous Cell Carcinoma	Associate	24771266, 36632458
Gastritis	Associate	24656654
Glioma	Associate	23138393, 27385209
HAIR AN syndrome	Stimulate	32974878
Head and Neck Neoplasms	Associate	25391996
Heart Neoplasms	Associate	28739744
Hematologic Diseases	Associate	32336043
Hydrops Fetalis	Associate	33864021
Intracranial Arteriovenous Malformations	Associate	20031623, 24517927, 28687708, 32286515
Intracranial Hemorrhages	Associate	20031623, 29932521
Leukemia Myelogenous Chronic BCR ABL Positive	Associate	35689424
Leukemia Myeloid Acute	Associate	24764074
Leukoencephalopathies	Associate	35325079
Lung Neoplasms	Associate	26073592
Lymphedema	Associate	33864021
Medulloblastoma	Associate	22723427, 25258252
Mesothelioma	Associate	37108544
Mesothelioma Malignant	Associate	37108544
Neoplasm Invasiveness	Associate	34296545
Neoplasm Metastasis	Associate	32336043
Neoplasms	Associate	12031094, 12562648, 17108150, 18231102, 18507018, 19552627, 24147882, 24427781, 24517927, 24677421, 25391996, 25831049, 26073592, 27072235, 27273865, 28214829, 28598398, 28739744, 28942682, 31638179, 32336043, 34445227, 35689424, 36632458, 40076777
Neoplasms	Inhibit	21393996
Neoplasms	Stimulate	26191333, 27827952
Nerve Degeneration	Associate	28214829
Neuroblastoma	Associate	32336043
Ovarian Neoplasms	Associate	18231102
Pancreatic Neoplasms	Associate	25051915
Pascual Castroviejo syndrome	Associate	30578106
Precursor Cell Lymphoblastic Leukemia Lymphoma	Associate	20061560
Prostatic Intraepithelial Neoplasia	Associate	25886373
Prostatic Neoplasms	Associate	16171530, 25886373
Retinal Dysplasia	Associate	25391996
Rhabdomyosarcoma	Associate	18507018
Sarcoma	Associate	22461510
Sarcoma Kaposi	Associate	15471957
Schizophrenia	Associate	31211845
Squamous Cell Carcinoma of Head and Neck	Associate	25391996
Stomach Neoplasms	Associate	28739744
Thyroid Diseases	Associate	26220827
Thyroiditis	Associate	26220827
Urinary Bladder Neoplasms	Associate	34296545
Vein of Galen Malformations	Associate	30578106
Vitreoretinopathy Proliferative	Associate	19696168