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
• 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:0000166	Function	Nucleotide binding	IEA
GO:0001525	Process	Angiogenesis	IBA
GO:0001525	Process	Angiogenesis	IDA	12734395
GO:0001525	Process	Angiogenesis	IEA
GO:0001525	Process	Angiogenesis	IMP	28687708, 30578106
GO:0002042	Process	Cell migration involved in sprouting angiogenesis	IDA	12734395
GO:0003007	Process	Heart morphogenesis	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	IBA
GO:0004714	Function	Transmembrane receptor protein tyrosine kinase activity	IEA
GO:0005003	Function	Ephrin receptor activity	IDA	8188704, 12734395, 15930280, 16867992, 22555806
GO:0005003	Function	Ephrin receptor activity	IEA
GO:0005515	Function	Protein binding	IPI	26481148, 28514442, 30578106, 33961781, 35384245
GO:0005524	Function	ATP binding	IEA
GO:0005576	Component	Extracellular region	TAS
GO:0005829	Component	Cytosol	TAS
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IDA	8188704, 12734395
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS
GO:0007155	Process	Cell adhesion	IDA	12734395
GO:0007169	Process	Cell surface receptor protein tyrosine kinase signaling pathway	IEA
GO:0016020	Component	Membrane	IEA
GO:0016301	Function	Kinase activity	IEA
GO:0016740	Function	Transferase activity	IEA
GO:0043235	Component	Receptor complex	IBA
GO:0048013	Process	Ephrin receptor signaling pathway	IBA
GO:0048013	Process	Ephrin receptor signaling pathway	IDA	12734395
GO:0048013	Process	Ephrin receptor signaling pathway	IMP	22555806
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

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)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Arteriovenous malformation	Pathogenic	rs2116413948	RCV001526877	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Capillary malformation-arteriovenous malformation 2	Pathogenic; Likely pathogenic	rs2116413904, rs2116450530, rs2116434296, rs2116432544, rs2116431583, rs767827881, rs1331371272, rs1279971868, rs761905713, rs1813296662, rs2116443777, rs2116416678, rs773967187, rs749503755, rs2485037560, rs2485049740, rs776818724, rs2485044899, rs1235297746, rs2485003454, rs2485000836, rs776410552, rs1562976493, rs1562973541, rs1562969219, rs927772349, rs1584653620, rs1562973614, rs377702127, rs1584653054, rs1584658113, rs1484547615, rs1584666961, rs1812966939	RCV001788524 RCV003155430 RCV006249768 RCV001823796 RCV001839304 RCV004796684 RCV002225188 RCV002225192 RCV002225213 RCV002225224 RCV002254419 RCV002272690 RCV002282773 RCV002470387 RCV002470540 RCV002470548 RCV003229500 RCV003328135 RCV004557271 RCV004560414 RCV004595404 RCV000722057 RCV000722058 RCV000722060 RCV000722061 RCV000722062 RCV000722063 RCV000722064 RCV000722065 RCV000852305 RCV000852308 RCV000852315 RCV000852312 RCV000852306 RCV001261444	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Capillary malformation-arteriovenous malformation syndrome	Pathogenic	rs779782731, rs2116462820, rs2485000657	RCV005601847 RCV002254420 RCV004018265	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Cardiovascular phenotype	Likely pathogenic; Pathogenic	rs1331371272, rs746199977, rs2485035566, rs2485000821	RCV002443272 RCV002353699 RCV002364886 RCV002459621	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
EPHB4-associated vascular malformation spectrum	Likely pathogenic	rs2485000498	RCV003994765	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
EPHB4-related disorder	Likely pathogenic; Pathogenic	rs2116435260, rs2116461878, rs1812821716, rs764404042, rs780186346, rs112410846, rs1302206828, rs1562967226, rs2485044907, rs2485028062, rs1562969219	RCV003399210 RCV004731193 RCV004548304 RCV004548605 RCV003402523 RCV003404209 RCV003422451 RCV003402383 RCV003419059 RCV003983598 RCV004547917	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hereditary lymphedema type I	Pathogenic; Likely pathogenic	rs2116431707, rs762817852	RCV002274298 RCV002274179	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Lymphatic malformation 7	Likely pathogenic; Pathogenic	rs2116434296, rs767827881, rs1279971868, rs758961867, rs1812821716, rs1057519263, rs1057519264, rs1562967463, rs1584651110	RCV005051918 RCV004796684 RCV004796712 RCV004782909 RCV002470209 RCV000415595 RCV000415536 RCV000735638 RCV000853289	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Acute myeloid leukemia	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ALZHEIMER DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL ABNORMALITY OF VEIN	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL ARTERIOVENOUS MALFORMATION	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CROHN'S DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYDROPS FETALIS, NON-IMMUNE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INFLAMMATORY BOWEL DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lymphedema	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant neoplastic disease	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of urinary bladder	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Tetralogy of Fallot	Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Thymoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ULCERATIVE COLITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VEIN OF GALEN ANEURYSM	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Vein of Galen aneurysmal malformation	association; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Venous malformation	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Acute lymphocytic leukemia	Lymphocytic Leukemia	BEFREE	20061560		★☆☆☆☆ Found in Text Mining only
Acute monocytic leukemia	Monocytic Leukemia	BEFREE	29296810		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma, Endometrioid	Endometrial Cancer	BEFREE	12562648		★☆☆☆☆ Found in Text Mining only
Adenoma	Adenoma	BEFREE	21393996		★☆☆☆☆ Found in Text Mining only
Adenomatous Polyposis Coli	Multiple polyposis syndrome	BEFREE	19738063		★☆☆☆☆ Found in Text Mining only
Adult Acute Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	20061560		★☆☆☆☆ Found in Text Mining only
Ameloblastoma	Ameloblastoma	BEFREE	31021853		★☆☆☆☆ Found in Text Mining only
Anaplasia	Anaplasia	BEFREE	17108150		★☆☆☆☆ Found in Text Mining only
Aneuploidy	Aneuploidy	Pubtator	15029258	Associate	★☆☆☆☆ Found in Text Mining only
ANOPHTHALMIA AND PULMONARY HYPOPLASIA	Syndromic microphthalmia	BEFREE	30944125		★☆☆☆☆ Found in Text Mining only
Arteriovenous Malformations	Arteriovenous malformations	Pubtator	28687708	Associate	★☆☆☆☆ Found in Text Mining only
Arteriovenous Malformations, Cerebral	Cerebral arteriovenous malformation	BEFREE	21437931		★☆☆☆☆ Found in Text Mining only
B Acute Lymphoblastic Leukemia with t(9;22)(q34.1;q11.2); BCR-ABL1	Lymphoblastic Leukemia	BEFREE	20002159		★☆☆☆☆ Found in Text Mining only
Barrett Esophagus	Barrett esophagus	BEFREE	26414866		★☆☆☆☆ Found in Text Mining only
Bladder Neoplasm	Bladder Neoplasm	BEFREE	16205642, 25148033		★☆☆☆☆ Found in Text Mining only
Blast Phase	Blast phase chronic myelogenous leukemia	BEFREE	27226777		★☆☆☆☆ Found in Text Mining only
Bone Diseases	Bone disease	Pubtator	19664212	Associate	★☆☆☆☆ Found in Text Mining only
Brain Diseases	Brain disease	Pubtator	28214829	Associate	★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	12082457, 15029258, 15067119, 16816380, 16862147, 23295955, 26191333, 26481148, 27072235, 30055288, 31289549		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	CTD_human_DG	23063927		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	12031094, 15029258, 23063927, 23295955, 24427781, 25831049, 26191333, 27072235, 32635943	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION (disorder)	Capillary Malformation-Arteriovenous Malformation	BEFREE	28687708, 28730721, 29171923, 29444212, 30635911, 31746477		★☆☆☆☆ Found in Text Mining only
CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION 2	Capillary Malformation-Arteriovenous Malformation	UNIPROT_DG	28687708, 28730721, 29444212, 30578106		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION 2	Capillary Malformation-Arteriovenous Malformation	CLINVAR_DG	28687708, 28730721		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION 2	Capillary Malformation-Arteriovenous Malformation	GENOMICS_ENGLAND_DG	29444212, 30760892		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION 2	Capillary Malformation-Arteriovenous Malformation	BEFREE	30760892		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Carcinogenesis	Carcinogenesis	Pubtator	23138393	Stimulate	★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	24656654	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	12562648, 15153337, 21393996, 27941840		★☆☆☆☆ Found in Text Mining only
Carcinoma of bladder	Bladder carcinoma	BEFREE	16205642		★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	22684742, 23844053, 26073592, 29369779		★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	25391996	Associate	★☆☆☆☆ Found in Text Mining only
Cerebrovascular accident	Stroke	BEFREE	28254815		★☆☆☆☆ Found in Text Mining only
cervical cancer	Cervical Cancer	BEFREE	19356789		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Childhood Acute Lymphoblastic Leukemia	Lymphoblastic Leukemia	BEFREE	20061560, 29085439		★☆☆☆☆ Found in Text Mining only
Cholangiocarcinoma	Cholangiocarcinoma	Pubtator	25012246	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Chromosomal Instability	Chromosomal instability	Pubtator	20031623	Associate	★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	11920461, 19738063, 27072105		★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic neoplasm	Pubtator	11920461, 27273865	Associate	★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic Neoplasms	BEFREE	27273865		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	16982731, 18281782, 19366806, 21852108, 23579861, 25274141, 27072105, 28165374, 29368976, 30538561, 31726078		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal Neoplasms	BEFREE	16982731, 27273865		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal Neoplasms	LHGDN	16982731		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	27273865	Associate	★☆☆☆☆ Found in Text Mining only
Congenital arteriovenous malformation	Congenital Arteriovenous Malformation	BEFREE	20031623, 28687708, 29932521, 30819650		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital diaphragmatic hernia	Congenital diaphragmatic hernia	BEFREE	30106123		★☆☆☆☆ Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	BEFREE	25391996		★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn Disease	GWASCAT_DG	26192919		★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn Disease	BEFREE	31211845		★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn disease	Pubtator	31211845	Associate	★☆☆☆☆ Found in Text Mining only
Degenerative polyarthritis	Arthritis	BEFREE	19035475		★☆☆☆☆ Found in Text Mining only
Degenerative polyarthritis	Arthritis	LHGDN	19035475		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	BEFREE	24096133		★☆☆☆☆ Found in Text Mining only
Endometrial adenocarcinoma	Endometrial Adenocarcinoma	BEFREE	28454369		★☆☆☆☆ Found in Text Mining only
Endometrial Carcinoma	Endometrial carcinoma	BEFREE	12562648, 17108150		★☆☆☆☆ Found in Text Mining only
Endometrial Hyperplasia	Endometrial Hyperplasia	BEFREE	12562648		★☆☆☆☆ Found in Text Mining only
Endometrial Hyperplasia	Endometrial hyperplasia	Pubtator	12562648	Associate	★☆☆☆☆ Found in Text Mining only
Endometrial Neoplasms	Endometrial neoplasm	Pubtator	12562648, 17108150	Associate	★☆☆☆☆ Found in Text Mining only
Endometriosis	Endometriosis	BEFREE	28145630		★☆☆☆☆ Found in Text Mining only
Epithelioma	Epithelioma	BEFREE	29296810, 31641103		★☆☆☆☆ Found in Text Mining only
Esophageal carcinoma	Esophageal Carcinoma	BEFREE	17611172		★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophageal neoplasm	Pubtator	36632458	Associate	★☆☆☆☆ Found in Text Mining only
Esophageal Squamous Cell Carcinoma	Esophageal squamous cell carcinoma	Pubtator	24771266, 36632458	Associate	★☆☆☆☆ Found in Text Mining only
Fibrosarcoma	Fibrosarcoma	BEFREE	25274141		★☆☆☆☆ Found in Text Mining only
Gastric Adenocarcinoma	Gastric Cancer	UNIPROT_DG			★☆☆☆☆ Found in Text Mining only
Gastritis	Gastritis	Pubtator	24656654	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	21555372		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	23138393, 29987450, 30776480		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	23138393, 27385209	Associate	★☆☆☆☆ Found in Text Mining only
Head and Neck Neoplasms	Head and neck neoplasm	Pubtator	25391996	Associate	★☆☆☆☆ Found in Text Mining only
Hemangioblastoma	Hemangioblastoma	BEFREE	27388534		★☆☆☆☆ Found in Text Mining only
Hematologic Diseases	Hematologic disease	Pubtator	32336043	Associate	★☆☆☆☆ Found in Text Mining only
Hematologic Neoplasms	Hematologic Neoplasms	BEFREE	29296810		★☆☆☆☆ Found in Text Mining only
Hereditary pancreatitis	Hereditary Pancreatitis	BEFREE	26951238		★☆☆☆☆ Found in Text Mining only
Hydrops Fetalis	Hydrops Fetalis	BEFREE	27400125		★☆☆☆☆ Found in Text Mining only
Hydrops Fetalis	Hydrops fetalis	Pubtator	33864021	Associate	★☆☆☆☆ Found in Text Mining only
Hydrops Fetalis, Non-Immune	Hydrops Fetalis	BEFREE	27400125, 29444212		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hydrops Fetalis, Non-Immune	Hydrops Fetalis	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ichthyosis, X-Linked	Ichthyosis	BEFREE	25274141		★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory Bowel Disease	GWASCAT_DG	26192919		★☆☆☆☆ Found in Text Mining only
Intestinal Neoplasms	Intestinal Neoplasms	BEFREE	19738063		★☆☆☆☆ Found in Text Mining only
Intracranial Arteriovenous Malformations	Intracranial arteriovenous malformation	Pubtator	20031623, 24517927, 28687708, 32286515	Associate	★☆☆☆☆ Found in Text Mining only
Intracranial Hemorrhages	Intracranial hemorrhage	Pubtator	20031623, 29932521	Associate	★☆☆☆☆ Found in Text Mining only
Kaposi Sarcoma	Kaposi Sarcoma	BEFREE	15471957, 18836096		★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	24764074	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	29296810		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	10221518, 30644610		★☆☆☆☆ Found in Text Mining only
Liver neoplasms	Liver neoplasms	BEFREE	10221518		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung Neoplasms	BEFREE	23844053		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	26073592	Associate	★☆☆☆☆ Found in Text Mining only
LYMPHATIC MALFORMATION 7	Lymphatic Malformation	UNIPROT_DG	27400125		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
LYMPHATIC MALFORMATION 7	Lymphatic Malformation	GENOMICS_ENGLAND_DG	27400125, 29905864		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
LYMPHATIC MALFORMATION 7	Lymphatic Malformation	CTD_human_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
LYMPHATIC MALFORMATION 7	Lymphatic Malformation	CLINVAR_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Lymphedema	Lymphedema	Pubtator	33864021	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant Glioma	Glioma	BEFREE	11436353		★☆☆☆☆ Found in Text Mining only
Malignant mesothelioma	Malignant Mesothelioma	BEFREE	31270394		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	12082457, 15029258, 15067119, 16816380, 16862147, 23295955, 26191333, 26481148, 27072235, 30055288, 31289549		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	CTD_human_DG	23063927		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	22684742, 23844053, 26073592, 29369779		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	18231102, 18281782		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	23079712, 25051915		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	15930280, 25724901, 31641103		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	20686847, 28739744, 29383777		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of urinary bladder	Urinary bladder cancer	BEFREE	16205642		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	19552627, 21555372, 22684742, 23079712, 25274141, 25391996, 28993206, 29285210, 29296810, 29369779, 29848571, 30776480, 31270394, 31654153		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	19738063, 27072105		★☆☆☆☆ Found in Text Mining only
Mammary Carcinoma, Human	Marfan Syndrome	CTD_human_DG	23063927		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	BEFREE	16816380		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	CTD_human_DG	23063927		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms, Human	Mammary Neoplasms	CTD_human_DG	23063927		★☆☆☆☆ Found in Text Mining only
Medulloblastoma	Medulloblastoma	Pubtator	22723427, 25258252	Associate	★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	23042640, 26390965, 29462967		★☆☆☆☆ Found in Text Mining only
Mesothelioma	Mesothelioma	BEFREE	15958611, 29369779		★☆☆☆☆ Found in Text Mining only
Mesothelioma	Mesothelioma	Pubtator	37108544	Associate	★☆☆☆☆ Found in Text Mining only
Mesothelioma Malignant	Mesothelioma	Pubtator	37108544	Associate	★☆☆☆☆ Found in Text Mining only
Metastatic melanoma	Metastatic Melanoma	UNIPROT_DG			★☆☆☆☆ Found in Text Mining only
Myeloid Leukemia, Chronic	Myeloid Leukemia	BEFREE	24415355, 27226777, 29096333		★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial Infarction	BEFREE	30339474		★☆☆☆☆ Found in Text Mining only
Myocardial Ischemia	Myocardial Ischemia	BEFREE	18571496		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	15067119, 15153337, 15930280, 15958611, 16205642, 16499955, 16615113, 16816380, 16862147, 16982731, 17108150, 18231102, 18281782, 18507018, 19356789, 19366806, 19738063, 20061560, 20686847, 21047731, 22684742, 23042640, 23079712, 23144318, 23844053, 25402202, 26191333, 26414866, 27072105, 27273865, 27941840, 28165374, 28598398, 28942682, 29462967, 29987450, 30644610, 30776480, 30894369, 30944125, 31638179, 31641103		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	Pubtator	32336043	Associate	★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	22684742		★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	LHGDN	17353927		★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	18231102	Associate	★☆☆☆☆ Found in Text Mining only
PACHYONYCHIA CONGENITA 3	Pachyonychia Congenita	BEFREE	15930280		★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	23079712, 25051915		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	25051915	Associate	★☆☆☆☆ Found in Text Mining only
Papillary thyroid carcinoma	Papillary thyroid carcinoma	BEFREE	22528941		★☆☆☆☆ Found in Text Mining only
Pericardial effusion	Pericardial effusion	HPO_DG			★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	15930280, 25724901, 31641103		★☆☆☆☆ Found in Text Mining only
Prostatic Intraepithelial Neoplasia	Prostatic intraepithelial neoplasia	Pubtator	25886373	Associate	★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic Neoplasms	BEFREE	15930280, 31641103		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic Neoplasms	LHGDN	15930280, 16171530		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	16171530, 25886373	Associate	★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	BEFREE	25391996		★☆☆☆☆ Found in Text Mining only
Retinal Diseases	Retinal Diseases	BEFREE	15914639, 19764912		★☆☆☆☆ Found in Text Mining only
Rhabdomyosarcoma	Rhabdomyosarcoma	BEFREE	18507018, 28817624		★☆☆☆☆ Found in Text Mining only
Rhabdomyosarcoma	Rhabdomyosarcoma	Pubtator	18507018	Associate	★☆☆☆☆ Found in Text Mining only
Sarcoma	Sarcoma	Pubtator	22461510	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Sarcoma	BEFREE	25274141		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma Kaposi	Sarcoma	Pubtator	15471957	Associate	★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	31211845		★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	Pubtator	31211845	Associate	★☆☆☆☆ Found in Text Mining only
Simple Endometrial Hyperplasia	Endometrial Hyperplasia	BEFREE	28454369		★☆☆☆☆ Found in Text Mining only
Sporadic Breast Carcinoma	Breast Carcinoma	BEFREE	23063927		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	LHGDN	16615113		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	BEFREE	27941840		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of esophagus	Esophagus Neoplasm	BEFREE	17611172, 24771266		★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	25391996	Associate	★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of the head and neck	Carcinoma Of The Head And Neck	BEFREE	16615113, 25391996, 27941840, 29848571, 30894369		★☆☆☆☆ Found in Text Mining only
Steroid Sulfatase Deficiency Disease	Steroid Sulfatase Deficiency Disease	BEFREE	25274141		★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	20686847, 28739744, 29383777		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	28739744	Associate	★☆☆☆☆ Found in Text Mining only
TARSAL-CARPAL COALITION SYNDROME	Tarsal-Carpal Coalition Syndrome	BEFREE	25148033		★☆☆☆☆ Found in Text Mining only
Tetralogy of Fallot	Tetralogy of Fallot	CLINVAR_DG	19597493, 27760138		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Thyroid Diseases	Thyroid disease	Pubtator	26220827	Associate	★☆☆☆☆ Found in Text Mining only
Thyroiditis	Thyroiditis	Pubtator	26220827	Associate	★☆☆☆☆ Found in Text Mining only
Transitional cell carcinoma of bladder	Bladder carcinoma	BEFREE	25148033		★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	34296545	Associate	★☆☆☆☆ Found in Text Mining only
Varicosity	Vulval varices	HPO_DG			★☆☆☆☆ Found in Text Mining only
Vein of Galen aneurysm	Vein Of Galen Aneurysm	BEFREE	29444212		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Vein of Galen aneurysm	Vein Of Galen Aneurysm	ORPHANET_DG	29444212		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Vitreoretinopathy Proliferative	Vitreoretinopathy	Pubtator	19696168	Associate	★☆☆☆☆ Found in Text Mining only