EPHB2 (EPH receptor B2)

Gene

• Entrez ID: 2048
• Gene name: EPH receptor B2
• Gene symbol: EPHB2
• Synonyms (NCBI Gene): BDPLT22, CAPB, DRT, EK5, EPHT3, ERK, Hek5, PCBC, Tyro5
• Chromosome: 1
• Chromosome location: 1p36.12
• Summary: This gene encodes a member of the Eph receptor family of receptor tyrosine kinase transmembrane glycoproteins. These receptors are composed of an N-terminal glycosylated ligand-binding domain, a transmembrane region and an intracellular kinase domain. The

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs28936395	G>A,T	Pathogenic, likely-benign	Coding sequence variant, missense variant
rs76826147	A>G,T	Risk-factor	3 prime UTR variant, missense variant, coding sequence variant, stop gained
rs121912582	C>T	Pathogenic	Stop gained, coding sequence variant
rs138551214	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs761749948	C>G,T	Pathogenic	Coding sequence variant, missense variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT049727	hsa-miR-92a-3p	CLASH	23622248
MIRT438732	hsa-miR-185-5p	ELISA, Flow, Luciferase reporter assay, qRT-PCR, Western blot	24803159
MIRT438732	hsa-miR-185-5p	ELISA, Flow, Luciferase reporter assay, qRT-PCR, Western blot	24803159
MIRT438670	hsa-miR-128-3p	Luciferase reporter assay, qRT-PCR, Western blot	23835497
MIRT438670	hsa-miR-128-3p	Luciferase reporter assay, qRT-PCR, Western blot	23835497
MIRT438732	hsa-miR-185-5p	ELISA, Flow, Luciferase reporter assay, qRT-PCR, Western blot	24803159
MIRT438732	hsa-miR-185-5p	ELISA, Flow, Luciferase reporter assay, qRT-PCR, Western blot	24803159
MIRT438670	hsa-miR-128-3p	Luciferase reporter assay, qRT-PCR, Western blot	23835497
MIRT438670	hsa-miR-128-3p	Luciferase reporter assay, qRT-PCR, Western blot	23835497
MIRT658579	hsa-miR-129-2-3p	HITS-CLIP	23824327
MIRT658578	hsa-miR-129-1-3p	HITS-CLIP	23824327
MIRT658577	hsa-miR-150-5p	HITS-CLIP	23824327
MIRT658575	hsa-miR-6814-5p	HITS-CLIP	23824327
MIRT658576	hsa-miR-532-3p	HITS-CLIP	23824327
MIRT658574	hsa-miR-2116-3p	HITS-CLIP	23824327
MIRT658573	hsa-miR-4713-5p	HITS-CLIP	23824327
MIRT658579	hsa-miR-129-2-3p	HITS-CLIP	23824327
MIRT658578	hsa-miR-129-1-3p	HITS-CLIP	23824327
MIRT658577	hsa-miR-150-5p	HITS-CLIP	23824327
MIRT658575	hsa-miR-6814-5p	HITS-CLIP	23824327
MIRT658576	hsa-miR-532-3p	HITS-CLIP	23824327
MIRT658574	hsa-miR-2116-3p	HITS-CLIP	23824327
MIRT658573	hsa-miR-4713-5p	HITS-CLIP	23824327
MIRT477315	hsa-miR-4779	PAR-CLIP	23592263
MIRT477314	hsa-miR-9500	PAR-CLIP	23592263
MIRT477313	hsa-miR-3665	PAR-CLIP	23592263
MIRT477312	hsa-miR-6077	PAR-CLIP	23592263
MIRT477311	hsa-miR-765	PAR-CLIP	23592263
MIRT477310	hsa-miR-1249-5p	PAR-CLIP	23592263
MIRT477309	hsa-miR-6797-5p	PAR-CLIP	23592263
MIRT477307	hsa-miR-4736	PAR-CLIP	23592263
MIRT477308	hsa-miR-7106-5p	PAR-CLIP	23592263
MIRT477306	hsa-miR-149-3p	PAR-CLIP	23592263
MIRT477305	hsa-miR-4728-5p	PAR-CLIP	23592263
MIRT477304	hsa-miR-6785-5p	PAR-CLIP	23592263
MIRT477303	hsa-miR-6883-5p	PAR-CLIP	23592263
MIRT477302	hsa-miR-6799-5p	PAR-CLIP	23592263
MIRT477300	hsa-miR-1233-5p	PAR-CLIP	23592263
MIRT477301	hsa-miR-6778-5p	PAR-CLIP	23592263
MIRT477299	hsa-miR-7150	PAR-CLIP	23592263
MIRT477298	hsa-miR-1273h-5p	PAR-CLIP	23592263
MIRT477297	hsa-miR-30b-3p	PAR-CLIP	23592263
MIRT477296	hsa-miR-3689a-3p	PAR-CLIP	23592263
MIRT477295	hsa-miR-3689b-3p	PAR-CLIP	23592263
MIRT477294	hsa-miR-3689c	PAR-CLIP	23592263
MIRT477293	hsa-miR-6779-5p	PAR-CLIP	23592263
MIRT477292	hsa-miR-6780a-5p	PAR-CLIP	23592263
MIRT440719	hsa-miR-218-5p	HITS-CLIP	23212916
MIRT440719	hsa-miR-218-5p	HITS-CLIP	23212916
MIRT658579	hsa-miR-129-2-3p	HITS-CLIP	23824327
MIRT658578	hsa-miR-129-1-3p	HITS-CLIP	23824327
MIRT658577	hsa-miR-150-5p	HITS-CLIP	23824327
MIRT658575	hsa-miR-6814-5p	HITS-CLIP	23824327
MIRT658576	hsa-miR-532-3p	HITS-CLIP	23824327
MIRT658574	hsa-miR-2116-3p	HITS-CLIP	23824327
MIRT658573	hsa-miR-4713-5p	HITS-CLIP	23824327
MIRT658579	hsa-miR-129-2-3p	HITS-CLIP	23824327
MIRT658578	hsa-miR-129-1-3p	HITS-CLIP	23824327
MIRT658577	hsa-miR-150-5p	HITS-CLIP	23824327
MIRT658575	hsa-miR-6814-5p	HITS-CLIP	23824327
MIRT658576	hsa-miR-532-3p	HITS-CLIP	23824327
MIRT658574	hsa-miR-2116-3p	HITS-CLIP	23824327
MIRT658573	hsa-miR-4713-5p	HITS-CLIP	23824327
MIRT477315	hsa-miR-4779	PAR-CLIP	23592263
MIRT477314	hsa-miR-9500	PAR-CLIP	23592263
MIRT477313	hsa-miR-3665	PAR-CLIP	23592263
MIRT477312	hsa-miR-6077	PAR-CLIP	23592263
MIRT477311	hsa-miR-765	PAR-CLIP	23592263
MIRT477310	hsa-miR-1249-5p	PAR-CLIP	23592263
MIRT477309	hsa-miR-6797-5p	PAR-CLIP	23592263
MIRT477307	hsa-miR-4736	PAR-CLIP	23592263
MIRT477308	hsa-miR-7106-5p	PAR-CLIP	23592263
MIRT477306	hsa-miR-149-3p	PAR-CLIP	23592263
MIRT477305	hsa-miR-4728-5p	PAR-CLIP	23592263
MIRT477304	hsa-miR-6785-5p	PAR-CLIP	23592263
MIRT477303	hsa-miR-6883-5p	PAR-CLIP	23592263
MIRT477302	hsa-miR-6799-5p	PAR-CLIP	23592263
MIRT477300	hsa-miR-1233-5p	PAR-CLIP	23592263
MIRT477301	hsa-miR-6778-5p	PAR-CLIP	23592263
MIRT477299	hsa-miR-7150	PAR-CLIP	23592263
MIRT477298	hsa-miR-1273h-5p	PAR-CLIP	23592263
MIRT477297	hsa-miR-30b-3p	PAR-CLIP	23592263
MIRT477296	hsa-miR-3689a-3p	PAR-CLIP	23592263
MIRT477295	hsa-miR-3689b-3p	PAR-CLIP	23592263
MIRT477294	hsa-miR-3689c	PAR-CLIP	23592263
MIRT477293	hsa-miR-6779-5p	PAR-CLIP	23592263
MIRT477292	hsa-miR-6780a-5p	PAR-CLIP	23592263
MIRT966678	hsa-miR-1207-5p	CLIP-seq
MIRT966679	hsa-miR-1248	CLIP-seq
MIRT966680	hsa-miR-1343	CLIP-seq
MIRT966681	hsa-miR-146b-3p	CLIP-seq
MIRT966682	hsa-miR-185	CLIP-seq
MIRT966683	hsa-miR-3157-5p	CLIP-seq
MIRT966684	hsa-miR-3173-3p	CLIP-seq
MIRT966685	hsa-miR-3689d	CLIP-seq
MIRT966686	hsa-miR-3690	CLIP-seq
MIRT966687	hsa-miR-4254	CLIP-seq
MIRT966688	hsa-miR-4271	CLIP-seq
MIRT966689	hsa-miR-4306	CLIP-seq
MIRT966690	hsa-miR-4434	CLIP-seq
MIRT966691	hsa-miR-4456	CLIP-seq
MIRT966692	hsa-miR-4516	CLIP-seq
MIRT966693	hsa-miR-4531	CLIP-seq
MIRT966694	hsa-miR-4533	CLIP-seq
MIRT966695	hsa-miR-4644	CLIP-seq
MIRT966696	hsa-miR-4677-3p	CLIP-seq
MIRT966697	hsa-miR-4690-3p	CLIP-seq
MIRT966698	hsa-miR-4725-3p	CLIP-seq
MIRT966699	hsa-miR-4747-5p	CLIP-seq
MIRT966700	hsa-miR-4763-3p	CLIP-seq
MIRT966701	hsa-miR-4778-3p	CLIP-seq
MIRT966702	hsa-miR-539	CLIP-seq
MIRT1548382	hsa-miR-2278	CLIP-seq
MIRT1548383	hsa-miR-29a	CLIP-seq
MIRT1548384	hsa-miR-29b	CLIP-seq
MIRT1548385	hsa-miR-29c	CLIP-seq
MIRT1548386	hsa-miR-3663-3p	CLIP-seq
MIRT1548387	hsa-miR-4459	CLIP-seq
MIRT1548388	hsa-miR-4733-3p	CLIP-seq
MIRT1548389	hsa-miR-665	CLIP-seq
MIRT1986310	hsa-miR-616	CLIP-seq
MIRT2220904	hsa-miR-1908	CLIP-seq
MIRT2220905	hsa-miR-3124-3p	CLIP-seq
MIRT2220906	hsa-miR-3160-5p	CLIP-seq
MIRT2220907	hsa-miR-4317	CLIP-seq
MIRT1548387	hsa-miR-4459	CLIP-seq
MIRT2220908	hsa-miR-4481	CLIP-seq
MIRT2220909	hsa-miR-4685-5p	CLIP-seq
MIRT2220910	hsa-miR-4712-3p	CLIP-seq
MIRT1548388	hsa-miR-4733-3p	CLIP-seq
MIRT2220911	hsa-miR-4745-5p	CLIP-seq
MIRT966699	hsa-miR-4747-5p	CLIP-seq
MIRT2220912	hsa-miR-580	CLIP-seq
MIRT2220913	hsa-miR-663	CLIP-seq
MIRT1548389	hsa-miR-665	CLIP-seq
MIRT1548387	hsa-miR-4459	CLIP-seq
MIRT1548388	hsa-miR-4733-3p	CLIP-seq
MIRT1548389	hsa-miR-665	CLIP-seq
MIRT2524584	hsa-miR-1204	CLIP-seq
MIRT2524585	hsa-miR-1291	CLIP-seq
MIRT966681	hsa-miR-146b-3p	CLIP-seq
MIRT2524586	hsa-miR-1538	CLIP-seq
MIRT2524587	hsa-miR-15a	CLIP-seq
MIRT2524588	hsa-miR-15b	CLIP-seq
MIRT2524589	hsa-miR-16	CLIP-seq
MIRT2220904	hsa-miR-1908	CLIP-seq
MIRT2524590	hsa-miR-195	CLIP-seq
MIRT2524591	hsa-miR-2052	CLIP-seq
MIRT2524592	hsa-miR-214	CLIP-seq
MIRT1548382	hsa-miR-2278	CLIP-seq
MIRT2524593	hsa-miR-2467-3p	CLIP-seq
MIRT2524594	hsa-miR-299-5p	CLIP-seq
MIRT1548383	hsa-miR-29a	CLIP-seq
MIRT1548384	hsa-miR-29b	CLIP-seq
MIRT1548385	hsa-miR-29c	CLIP-seq
MIRT2524595	hsa-miR-3125	CLIP-seq
MIRT2524596	hsa-miR-3151	CLIP-seq
MIRT966683	hsa-miR-3157-5p	CLIP-seq
MIRT2524597	hsa-miR-3173-5p	CLIP-seq
MIRT2524598	hsa-miR-3176	CLIP-seq
MIRT2524599	hsa-miR-3180	CLIP-seq
MIRT2524600	hsa-miR-3180-3p	CLIP-seq
MIRT2524601	hsa-miR-3196	CLIP-seq
MIRT2524602	hsa-miR-3200-5p	CLIP-seq
MIRT2524603	hsa-miR-328	CLIP-seq
MIRT2524604	hsa-miR-3616-3p	CLIP-seq
MIRT2524605	hsa-miR-3619-5p	CLIP-seq
MIRT2524606	hsa-miR-3652	CLIP-seq
MIRT1548386	hsa-miR-3663-3p	CLIP-seq
MIRT2524607	hsa-miR-3664-3p	CLIP-seq
MIRT2524608	hsa-miR-3681	CLIP-seq
MIRT2524609	hsa-miR-3916	CLIP-seq
MIRT2524610	hsa-miR-3922-3p	CLIP-seq
MIRT2524611	hsa-miR-424	CLIP-seq
MIRT2524612	hsa-miR-4430	CLIP-seq
MIRT2524613	hsa-miR-4433	CLIP-seq
MIRT2524614	hsa-miR-4454	CLIP-seq
MIRT1548387	hsa-miR-4459	CLIP-seq
MIRT2524615	hsa-miR-4488	CLIP-seq
MIRT2524616	hsa-miR-4505	CLIP-seq
MIRT2524617	hsa-miR-4649-3p	CLIP-seq
MIRT2524618	hsa-miR-4668-5p	CLIP-seq
MIRT966696	hsa-miR-4677-3p	CLIP-seq
MIRT966697	hsa-miR-4690-3p	CLIP-seq
MIRT2524619	hsa-miR-4697-5p	CLIP-seq
MIRT2524620	hsa-miR-4711-3p	CLIP-seq
MIRT2524621	hsa-miR-4721	CLIP-seq
MIRT1548388	hsa-miR-4733-3p	CLIP-seq
MIRT2524622	hsa-miR-4745-3p	CLIP-seq
MIRT2524623	hsa-miR-4757-5p	CLIP-seq
MIRT2524624	hsa-miR-4768-3p	CLIP-seq
MIRT2524625	hsa-miR-486-3p	CLIP-seq
MIRT2524626	hsa-miR-497	CLIP-seq
MIRT2524627	hsa-miR-510	CLIP-seq
MIRT2524628	hsa-miR-511	CLIP-seq
MIRT2524629	hsa-miR-548a-3p	CLIP-seq
MIRT2524630	hsa-miR-548e	CLIP-seq
MIRT2524631	hsa-miR-548f	CLIP-seq
MIRT2524632	hsa-miR-591	CLIP-seq
MIRT2524633	hsa-miR-629	CLIP-seq
MIRT2524634	hsa-miR-659	CLIP-seq
MIRT2220913	hsa-miR-663	CLIP-seq
MIRT2524635	hsa-miR-663b	CLIP-seq
MIRT1548389	hsa-miR-665	CLIP-seq
MIRT2524636	hsa-miR-761	CLIP-seq
MIRT2524637	hsa-miR-877	CLIP-seq
MIRT2524584	hsa-miR-1204	CLIP-seq
MIRT2524585	hsa-miR-1291	CLIP-seq
MIRT966681	hsa-miR-146b-3p	CLIP-seq
MIRT2524586	hsa-miR-1538	CLIP-seq
MIRT2220904	hsa-miR-1908	CLIP-seq
MIRT2524591	hsa-miR-2052	CLIP-seq
MIRT1548382	hsa-miR-2278	CLIP-seq
MIRT2524593	hsa-miR-2467-3p	CLIP-seq
MIRT2524594	hsa-miR-299-5p	CLIP-seq
MIRT1548383	hsa-miR-29a	CLIP-seq
MIRT1548384	hsa-miR-29b	CLIP-seq
MIRT1548385	hsa-miR-29c	CLIP-seq
MIRT2524596	hsa-miR-3151	CLIP-seq
MIRT966683	hsa-miR-3157-5p	CLIP-seq
MIRT2524597	hsa-miR-3173-5p	CLIP-seq
MIRT2524598	hsa-miR-3176	CLIP-seq
MIRT2524599	hsa-miR-3180	CLIP-seq
MIRT2524600	hsa-miR-3180-3p	CLIP-seq
MIRT2524601	hsa-miR-3196	CLIP-seq
MIRT2524602	hsa-miR-3200-5p	CLIP-seq
MIRT2524603	hsa-miR-328	CLIP-seq
MIRT2524604	hsa-miR-3616-3p	CLIP-seq
MIRT2524606	hsa-miR-3652	CLIP-seq
MIRT1548386	hsa-miR-3663-3p	CLIP-seq
MIRT2524607	hsa-miR-3664-3p	CLIP-seq
MIRT2524608	hsa-miR-3681	CLIP-seq
MIRT2524610	hsa-miR-3922-3p	CLIP-seq
MIRT2524612	hsa-miR-4430	CLIP-seq
MIRT2524613	hsa-miR-4433	CLIP-seq
MIRT2524614	hsa-miR-4454	CLIP-seq
MIRT1548387	hsa-miR-4459	CLIP-seq
MIRT2524615	hsa-miR-4488	CLIP-seq
MIRT2524616	hsa-miR-4505	CLIP-seq
MIRT2680194	hsa-miR-4508	CLIP-seq
MIRT2524617	hsa-miR-4649-3p	CLIP-seq
MIRT2524618	hsa-miR-4668-5p	CLIP-seq
MIRT966696	hsa-miR-4677-3p	CLIP-seq
MIRT966697	hsa-miR-4690-3p	CLIP-seq
MIRT2524619	hsa-miR-4697-5p	CLIP-seq
MIRT2524620	hsa-miR-4711-3p	CLIP-seq
MIRT2524621	hsa-miR-4721	CLIP-seq
MIRT1548388	hsa-miR-4733-3p	CLIP-seq
MIRT2524622	hsa-miR-4745-3p	CLIP-seq
MIRT2524623	hsa-miR-4757-5p	CLIP-seq
MIRT2524624	hsa-miR-4768-3p	CLIP-seq
MIRT2524625	hsa-miR-486-3p	CLIP-seq
MIRT2524627	hsa-miR-510	CLIP-seq
MIRT2524628	hsa-miR-511	CLIP-seq
MIRT2524629	hsa-miR-548a-3p	CLIP-seq
MIRT2524630	hsa-miR-548e	CLIP-seq
MIRT2524631	hsa-miR-548f	CLIP-seq
MIRT2524632	hsa-miR-591	CLIP-seq
MIRT2524633	hsa-miR-629	CLIP-seq
MIRT2524634	hsa-miR-659	CLIP-seq
MIRT2220913	hsa-miR-663	CLIP-seq
MIRT2524635	hsa-miR-663b	CLIP-seq
MIRT1548389	hsa-miR-665	CLIP-seq
MIRT2680195	hsa-miR-744	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
BTF3	Activation	17312387
REL	Repression	19621336

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0000902	Process	Cell morphogenesis	IEA
GO:0001525	Process	Angiogenesis	IEA
GO:0001525	Process	Angiogenesis	ISS
GO:0001540	Function	Amyloid-beta binding	IEA
GO:0001540	Function	Amyloid-beta binding	ISS
GO:0001540	Function	Amyloid-beta binding	TAS	26871627
GO:0001655	Process	Urogenital system development	IEA
GO:0001655	Process	Urogenital system development	ISS
GO:0002639	Process	Positive regulation of immunoglobulin production	IMP	24803541
GO:0004672	Function	Protein kinase activity	IEA
GO:0004713	Function	Protein tyrosine kinase activity	IEA
GO:0004713	Function	Protein tyrosine kinase activity	ISS
GO:0004714	Function	Transmembrane receptor protein tyrosine kinase activity	IEA
GO:0005003	Function	Ephrin receptor activity	IEA
GO:0005005	Function	Transmembrane-ephrin receptor activity	IBA
GO:0005005	Function	Transmembrane-ephrin receptor activity	IEA
GO:0005005	Function	Transmembrane-ephrin receptor activity	ISS
GO:0005005	Function	Transmembrane-ephrin receptor activity	TAS	8589679
GO:0005102	Function	Signaling receptor binding	IEA
GO:0005515	Function	Protein binding	IDA	33280498
GO:0005515	Function	Protein binding	IPI	17255949, 28931592, 32814053, 35384245
GO:0005524	Function	ATP binding	IEA
GO:0005576	Component	Extracellular region	TAS
GO:0005654	Component	Nucleoplasm	IDA
GO:0005829	Component	Cytosol	TAS
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IDA
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	ISS
GO:0005886	Component	Plasma membrane	TAS
GO:0007162	Process	Negative regulation of cell adhesion	IMP	23835497
GO:0007169	Process	Cell surface receptor protein tyrosine kinase signaling pathway	IEA
GO:0007169	Process	Cell surface receptor protein tyrosine kinase signaling pathway	IEA
GO:0007399	Process	Nervous system development	IEA
GO:0007399	Process	Nervous system development	TAS	8589679
GO:0007409	Process	Axonogenesis	IEA
GO:0007411	Process	Axon guidance	IBA
GO:0007411	Process	Axon guidance	IEA
GO:0007411	Process	Axon guidance	ISS
GO:0007413	Process	Axonal fasciculation	IEA
GO:0007413	Process	Axonal fasciculation	ISS
GO:0007611	Process	Learning or memory	IEA
GO:0007611	Process	Learning or memory	ISS
GO:0007612	Process	Learning	IEA
GO:0007612	Process	Learning	ISS
GO:0008046	Function	Axon guidance receptor activity	IEA
GO:0009887	Process	Animal organ morphogenesis	IEA
GO:0009986	Component	Cell surface	IEA
GO:0010628	Process	Positive regulation of gene expression	ISS
GO:0016020	Component	Membrane	IEA
GO:0016301	Function	Kinase activity	IEA
GO:0016310	Process	Phosphorylation	ISS
GO:0016740	Function	Transferase activity	IEA
GO:0018108	Process	Peptidyl-tyrosine phosphorylation	ISS
GO:0021631	Process	Optic nerve morphogenesis	IEA
GO:0021934	Process	Hindbrain tangential cell migration	IEA
GO:0021952	Process	Central nervous system projection neuron axonogenesis	IEA
GO:0022038	Process	Corpus callosum development	IEA
GO:0022038	Process	Corpus callosum development	ISS
GO:0030193	Process	Regulation of blood coagulation	IMP	30213874
GO:0030335	Process	Positive regulation of cell migration	IGI	23204229, 23835497
GO:0030424	Component	Axon	IEA
GO:0030424	Component	Axon	ISS
GO:0030425	Component	Dendrite	IBA
GO:0030425	Component	Dendrite	IEA
GO:0030425	Component	Dendrite	ISS
GO:0030890	Process	Positive regulation of B cell proliferation	IMP	24803541
GO:0031290	Process	Retinal ganglion cell axon guidance	IEA
GO:0031915	Process	Positive regulation of synaptic plasticity	IEA
GO:0031915	Process	Positive regulation of synaptic plasticity	ISS
GO:0032760	Process	Positive regulation of tumor necrosis factor production	IMP	24803541
GO:0038023	Function	Signaling receptor activity	IEA
GO:0042113	Process	B cell activation	IMP	24803541
GO:0042472	Process	Inner ear morphogenesis	IEA
GO:0042472	Process	Inner ear morphogenesis	ISS
GO:0042734	Component	Presynaptic membrane	IEA
GO:0042802	Function	Identical protein binding	IEA
GO:0042995	Component	Cell projection	IEA
GO:0043025	Component	Neuronal cell body	IEA
GO:0043197	Component	Dendritic spine	IEA
GO:0044877	Function	Protein-containing complex binding	IEA
GO:0044877	Function	Protein-containing complex binding	ISS
GO:0045211	Component	Postsynaptic membrane	IEA
GO:0046425	Process	Regulation of receptor signaling pathway via JAK-STAT	IEA
GO:0046580	Process	Negative regulation of Ras protein signal transduction	IEA
GO:0046580	Process	Negative regulation of Ras protein signal transduction	ISS	11585923
GO:0048013	Process	Ephrin receptor signaling pathway	IBA
GO:0048013	Process	Ephrin receptor signaling pathway	IEA
GO:0048013	Process	Ephrin receptor signaling pathway	ISS
GO:0048168	Process	Regulation of neuronal synaptic plasticity	IEA
GO:0048168	Process	Regulation of neuronal synaptic plasticity	ISS
GO:0048170	Process	Positive regulation of long-term neuronal synaptic plasticity	IEA
GO:0048593	Process	Camera-type eye morphogenesis	IEA
GO:0050770	Process	Regulation of axonogenesis	IEA
GO:0050771	Process	Negative regulation of axonogenesis	IEA
GO:0050878	Process	Regulation of body fluid levels	IEA
GO:0050878	Process	Regulation of body fluid levels	ISS
GO:0051240	Process	Positive regulation of multicellular organismal process	IEA
GO:0051489	Process	Regulation of filopodium assembly	IEA
GO:0051963	Process	Regulation of synapse assembly	IEA
GO:0051965	Process	Positive regulation of synapse assembly	IEA
GO:0051965	Process	Positive regulation of synapse assembly	ISS
GO:0060021	Process	Roof of mouth development	IEA
GO:0060021	Process	Roof of mouth development	ISS
GO:0060996	Process	Dendritic spine development	IEA
GO:0060996	Process	Dendritic spine development	ISS
GO:0060997	Process	Dendritic spine morphogenesis	IEA
GO:0060997	Process	Dendritic spine morphogenesis	ISS
GO:0061003	Process	Positive regulation of dendritic spine morphogenesis	IEA
GO:0070373	Process	Negative regulation of ERK1 and ERK2 cascade	IEA
GO:0070373	Process	Negative regulation of ERK1 and ERK2 cascade	ISS
GO:0071222	Process	Cellular response to lipopolysaccharide	IEA
GO:0071679	Process	Commissural neuron axon guidance	IEA
GO:0071679	Process	Commissural neuron axon guidance	ISS
GO:0097104	Process	Postsynaptic membrane assembly	IEA
GO:0098686	Component	Hippocampal mossy fiber to CA3 synapse	IEA
GO:0098794	Component	Postsynapse	IEA
GO:0098794	Component	Postsynapse	TAS	26224839
GO:0098978	Component	Glutamatergic synapse	IEA
GO:0106028	Process	Neuron projection retraction	IEA
GO:0106028	Process	Neuron projection retraction	ISS	11585923
GO:0110077	Process	Vesicle-mediated intercellular transport	IEA
GO:0120192	Process	Tight junction assembly	IEA
GO:1900016	Process	Negative regulation of cytokine production involved in inflammatory response	IEA
GO:1900273	Process	Positive regulation of long-term synaptic potentiation	IEA
GO:1900273	Process	Positive regulation of long-term synaptic potentiation	ISS
GO:1900450	Process	Negative regulation of glutamate receptor signaling pathway	IEA
GO:1900450	Process	Negative regulation of glutamate receptor signaling pathway	ISS
GO:1900451	Process	Positive regulation of glutamate receptor signaling pathway	IEA
GO:1900451	Process	Positive regulation of glutamate receptor signaling pathway	ISS
GO:1903078	Process	Positive regulation of protein localization to plasma membrane	ISS
GO:1904646	Process	Cellular response to amyloid-beta	IEA
GO:1990535	Process	Neuron projection maintenance	IEA
GO:1990535	Process	Neuron projection maintenance	ISS	11585923
GO:2000010	Process	Positive regulation of protein localization to cell surface	IEA
GO:2000316	Process	Regulation of T-helper 17 type immune response	IEA
GO:2000785	Process	Regulation of autophagosome assembly	IDA	33280498
GO:2000822	Process	Regulation of behavioral fear response	IEA

Other IDs

• MIM: 600997
• HGNC: 3393
• e!Ensembl: ENSG00000133216

Protein

• UniProt ID: P29323
• Protein name: Ephrin type-B receptor 2 (EC 2.7.10.1) (Developmentally-regulated Eph-related tyrosine kinase) (ELK-related tyrosine kinase) (EPH tyrosine kinase 3) (EPH-like kinase 5) (EK5) (hEK5) (Renal carcinoma antigen NY-REN-47) (Tyrosine-protein kinase TYRO5) (Tyro
• 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: 1B4F, 1F0M, 2QBX, 3ZFM, 8EBL
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF01404	Ephrin_lbd	21 → 197	Ephrin receptor ligand binding domain	Domain
  PF07699	Ephrin_rec_like	261 → 304	Putative ephrin-receptor like	Family
  PF00041	fn3	326 → 421	Fibronectin type III domain	Domain
  PF00041	fn3	434 → 520	Fibronectin type III domain	Domain
  PF14575	EphA2_TM	544 → 618	Ephrin type-A receptor 2 transmembrane domain	Domain
  PF07714	PK_Tyr_Ser-Thr	621 → 880	Protein tyrosine and serine/threonine kinase	Domain
  PF00536	SAM_1	911 → 975	SAM domain (Sterile alpha motif)	Domain

• Tissue specificity: TISSUE SPECIFICITY: Brain, heart, lung, kidney, placenta, pancreas, liver and skeletal muscle. Preferentially expressed in fetal brain.
• Sequence:

  MALRRLGAALLLLPLLAAVEETLMDSTTATAELGWMVHPPSGWEEVSGYDENMNTIRTYQ
  VCNVFESSQNNWLRTKFIRRRGAHRIHVEMKFSVRDCSSIPSVPGSCKETFNLYYYEADF
  DSATKTFPNWMENPWVKVDTIAADESFSQVDLGGRVMKINTEVRSFGPVSRSGFYLAFQD
  YGGCMSLIAVRVFYRKCPRIIQNGAIFQETLSGAESTSLVAARGSCIANAEEVDVPIKLY
  CNGDGEWLVPIGRCMCKAGFEAVENGTVCRGCPSGTFKANQGDEACTHCPINSRTTSEGA
  TNCVCRNGYYRADLDPLDMPCTTIPSAPQAVISSVNETSLMLEWTPPRDSGGREDLVYNI
  ICKSCGSGRGACTRCGDNVQYAPRQLGLTEPRIYISDLLAHTQYTFEIQAVNGVTDQSPF
  SPQFASVNITTNQAAPSAVSIMHQVSRTVDSITLSWSQPDQPNGVILDYELQYYEKELSE
  YNATAIKSPTNTVTVQGLKAGAIYVFQVRARTVAGYGRYSGKMYFQTMTEAEYQTSIQEK
  LPLIIGSSAAGLVFLIAVVVIAIVCNRRGFERADSEYTDKLQHYTSGHMTPGMKIYIDPF
  TYEDPNEAVREFAKEIDISCVKIEQVIGAGEFGEVCSGHLKLPGKREIFVAIKTLKSGYT
  EKQRRDFLSEASIMGQFDHPNVIHLEGVVTKSTPVMIITEFMENGSLDSFLRQNDGQFTV
  IQLVGMLRGIAAGMKYLADMNYVHRDLAARNILVNSNLVCKVSDFGLSRFLEDDTSDPTY
  TSALGGKIPIRWTAPEAIQYRKFTSASDVWSYGIVMWEVMSYGERPYWDMTNQDVINAIE
  QDYRLPPPMDCPSALHQLMLDCWQKDRNHRPKFGQIVNTLDKMIRNPNSLKAMAPLSSGI
  NLPLLDRTIPDYTSFNTVDEWLEAIKMGQYKESFANAGFTSFDVVSQMMMEDILRVGVTL
  AGHQKKILNSIQVMRAQMNQIQSVEGQPLARRPRATGRTKRCQPRDVTKKTCNSNDGKKK
  GMGKKKTDPGRGREIQGIFFKEDSHKESNDCSCGG

• Sequence length: 1055

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
Prostate cancer/brain cancer susceptibility	Pathogenic	rs121912582	RCV000009058	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Bleeding disorder, platelet-type, 22	Uncertain significance; no classifications from unflagged records	ClinVar ClinGen, ClinVar, Disgenet, GWAS catalog, HPO ClinGen, ClinVar, Disgenet, GWAS catalog, HPO ClinGen, ClinVar, Disgenet, GWAS catalog, HPO	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
BLOOD PLATELET DISORDERS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLOR VISION DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EPHB2-related disorder	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FAMILIAL PROSTATE CANCER	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Irido-corneo-trabecular dysgenesis	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OLIGODENDROGLIOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SQUAMOUS CELL LUNG CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TREATMENT-RESISTANT HYPERTENSION	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Achondroplasia	Achondroplasia	BEFREE	20922792		★☆☆☆☆ Found in Text Mining only
Acoustic Neuroma	Acoustic Neuroma	BEFREE	21178801		★☆☆☆☆ Found in Text Mining only
Acute Erythroblastic Leukemia	Erythroblastic Leukemia	BEFREE	20445019		★☆☆☆☆ Found in Text Mining only
Acute leukemia	Leukemia	BEFREE	17726105		★☆☆☆☆ Found in Text Mining only
Acute lymphocytic leukemia	Lymphocytic Leukemia	BEFREE	24083449		★☆☆☆☆ Found in Text Mining only
Acute monocytic leukemia	Monocytic Leukemia	BEFREE	29208365		★☆☆☆☆ Found in Text Mining only
Acute pancreatitis	Pancreatitis	BEFREE	29349553		★☆☆☆☆ Found in Text Mining only
Acute Promyelocytic Leukemia	Promyelocytic Leukemia	BEFREE	17077328		★☆☆☆☆ Found in Text Mining only
Acute recurrent pancreatitis	Pancreatitis	BEFREE	31091220		★☆☆☆☆ Found in Text Mining only
Adamantinous Craniopharyngioma	Adamantinous Craniopharyngioma	BEFREE	29541918		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma	Adenocarcinoma	BEFREE	12136247, 15212949, 17478553, 17493236, 19046792, 21161727, 21673681, 22376079, 25307974		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of colon	Adenocarcinoma Of Colon	BEFREE	19782681, 22376079		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma Of Esophagus	Esophageal Cancer	BEFREE	21143918		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of large intestine	Colorectal Cancer	BEFREE	21161727		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	BEFREE	20652762, 22546605, 24976335, 25351745, 27177272, 28231727, 28306189, 28400509, 28554329, 29483824, 29549897, 30475204, 30815935		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of pancreas	Pancreatic adenocarcinoma	BEFREE	16904205		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of prostate	Prostate adenocarcinoma	CGI_DG			★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of rectum	Adenocarcinoma Of Rectum	BEFREE	30899445		★☆☆☆☆ Found in Text Mining only
Adenoma	Adenoma	BEFREE	16033834, 16288001, 17295683, 18085615, 22236547, 24612059, 28094771		★☆☆☆☆ Found in Text Mining only
Adenoma of large intestine	Colorectal adenoma	BEFREE	16033834		★☆☆☆☆ Found in Text Mining only
Adenomatous Polyposis Coli	Multiple polyposis syndrome	BEFREE	18085615		★☆☆☆☆ Found in Text Mining only
Adrenocortical carcinoma	Adrenocortical carcinoma	BEFREE	19190079, 29507530		★☆☆☆☆ Found in Text Mining only
Adult Malignant Peripheral Nerve Sheath Tumor	Malignant Peripheral Nerve Sheath Tumor	BEFREE	30112810		★☆☆☆☆ Found in Text Mining only
Adult Medulloblastoma	Medulloblastoma	BEFREE	21181094, 24300787, 28360821, 29212025		★☆☆☆☆ Found in Text Mining only
Agenesis of corpus callosum	Agenesis Of Corpus Callosum	BEFREE	31378849		★☆☆☆☆ Found in Text Mining only
Allergic rhinitis (disorder)	Allergic rhinitis	BEFREE	29991950, 30481581		★☆☆☆☆ Found in Text Mining only
Amnesia	Amnesia	BEFREE	30233281		★☆☆☆☆ Found in Text Mining only
Amyloidosis	Amyloidosis	BEFREE	28167851		★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis	Amyotrophic Lateral Sclerosis	BEFREE	28366453, 29559385, 29842900, 31196199		★☆☆☆☆ Found in Text Mining only
Anaplasia	Anaplasia	BEFREE	16601293, 22820175, 28216148, 28699206, 28724942		★☆☆☆☆ Found in Text Mining only
Anaplastic Ependymoma	Anaplastic Ependymoma	CTD_human_DG	26075792		★☆☆☆☆ Found in Text Mining only
Anaplastic thyroid carcinoma	Anaplastic thyroid cancer	BEFREE	17989125, 25016932, 28430585		★☆☆☆☆ Found in Text Mining only
Ankylosing spondylitis	Ankylosing Spondylitis	BEFREE	31456484		★☆☆☆☆ Found in Text Mining only
ANOPHTHALMIA AND PULMONARY HYPOPLASIA	Syndromic microphthalmia	BEFREE	18098271, 24025152, 26219899, 26547582, 28574828, 28720574, 29435178, 30041673, 30042387, 30833752, 31177911, 31649109		★☆☆☆☆ Found in Text Mining only
Anorexia Nervosa	Anorexia	BEFREE	31398429		★☆☆☆☆ Found in Text Mining only
Anxiety	Anxiety Disorder	BEFREE	28358367		★☆☆☆☆ Found in Text Mining only
Anxiety Disorders	Anxiety Disorder	BEFREE	28358367		★☆☆☆☆ Found in Text Mining only
Aortic Valve Insufficiency	Aortic Valve Insufficiency	BEFREE	31693867		★☆☆☆☆ Found in Text Mining only
Aplasia Cutis Congenita	Aplasia Cutis Congenita	BEFREE	31378849		★☆☆☆☆ Found in Text Mining only
Arteriosclerosis	Arteriosclerosis	BEFREE	18092944, 20675591, 30915769, 31171272		★☆☆☆☆ Found in Text Mining only
Arthritis	Arthritis	BEFREE	22488549, 27933357		★☆☆☆☆ Found in Text Mining only
Arthritis	Arthritis	Pubtator	32483203	Associate	★☆☆☆☆ Found in Text Mining only
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	32483203	Associate	★☆☆☆☆ Found in Text Mining only
Arthropathy	Arthropathy	BEFREE	15341921		★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	BEFREE	11959794, 17392578, 18338817, 22461694, 28358425, 30186353		★☆☆☆☆ Found in Text Mining only
Astrocytoma	Astrocytoma	BEFREE	15126357, 19850087, 20569675, 21112319		★☆☆☆☆ Found in Text Mining only
Ataxia, Spinocerebellar	Spinocerebellar Ataxia	BEFREE	21087211		★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	BEFREE	18092944, 20675591, 30915769, 31171272		★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	Pubtator	32337793	Associate	★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorders	Autism Spectrum Disorder	BEFREE	29934348, 30447757		★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	BEFREE	24853428, 25698753		★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune Diseases	BEFREE	15204091, 30481683		★☆☆☆☆ Found in Text Mining only
Autoimmune thyroiditis	Autoimmune Thyroiditis	BEFREE	31656199		★☆☆☆☆ Found in Text Mining only
B Acute Lymphoblastic Leukemia with t(9;22)(q34.1;q11.2); BCR-ABL1	Lymphoblastic Leukemia	BEFREE	29578162		★☆☆☆☆ Found in Text Mining only
B-Cell Lymphomas	B-Cell Lymphoma	BEFREE	20350533, 22231445, 25964563, 27871155, 30371509, 31599429, 31803133		★☆☆☆☆ Found in Text Mining only
Benign Prostatic Hyperplasia	Benign Prostatic Hyperplasia	BEFREE	28130436		★☆☆☆☆ Found in Text Mining only
Biliary Atresia	Biliary Atresia	BEFREE	26379158		★☆☆☆☆ Found in Text Mining only
Bipolar Disorder	Bipolar Disorder	BEFREE	11926075, 30087257		★☆☆☆☆ Found in Text Mining only
Bladder Neoplasm	Bladder Neoplasm	BEFREE	22525723, 23300058, 28178653, 29703843, 30230587, 30482227, 30801954		★☆☆☆☆ Found in Text Mining only
Blood Coagulation Disorders	Blood Coagulation Disorders	BEFREE	31348050		★☆☆☆☆ Found in Text Mining only
Blood Platelet Disorders	Platelet disorder	Pubtator	30213874	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Brain Neoplasms	Brain Neoplasms	BEFREE	11536309, 28368413		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	10919709, 12592371, 15029258, 16855386, 17106250, 17516844, 18224398, 18497066, 18597688, 19075597, 19639180, 20353997, 20668305, 21499305, 21737611, 22073986, 22147081, 22176685, 22258408, 22427054, 22534171, 23319603, 24164962, 24211352, 24655548, 25073112, 25201346, 25257729, 25742792, 26006730, 26151310, 26842910, 26853153, 26870995, 26996066, 27341075, 27462780, 27563827, 27705918, 27876502, 28231748, 28241486, 28469788, 28476377, 28647611, 28713975, 28781955, 28975625, 28988130, 29041978, 29190947, 29307829, 29338098, 29468929, 29526753, 29743588, 29846015, 29951338, 30003928, 30087941, 30115027, 30371731, 30520151, 30659267, 30674353, 30741723, 30742942, 30810041, 31289549, 31771180, 31781505		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	15029258, 16039586, 21278786, 25728938, 26870995	Associate	★☆☆☆☆ Found in Text Mining only
Bronchioloalveolar Adenocarcinoma	Lung adenocarcinoma	BEFREE	18154814		★☆☆☆☆ Found in Text Mining only
Bronchitis	Bronchitis	BEFREE	31082732		★☆☆☆☆ Found in Text Mining only
Bulbo-Spinal Atrophy, X-Linked	Bulbospinal Atrophy, X-Linked	BEFREE	25174397		★☆☆☆☆ Found in Text Mining only
Bullous pemphigoid	Bullous Pemphigoid	BEFREE	28351660		★☆☆☆☆ Found in Text Mining only
Burkitt Lymphoma	Burkitt`s Lymphoma	BEFREE	25982280		★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	25996368	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	14991899, 15141374, 16288001, 17295683, 18025475, 18695888, 21292437, 21393996, 22711061, 24211352		★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	26222696, 30026540, 33210432	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma of bladder	Bladder carcinoma	BEFREE	22525723, 23300058, 28178653, 29703843, 30230587, 30482227, 30801954		★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	18331824, 19152186, 19836351, 19997650, 21478903, 21885439, 22387541, 22941060, 23658296, 24789704, 25394367, 25697899, 26181029, 26216446, 26528854, 26884842, 27082640, 27677293, 27748898, 28254703, 28554329, 28884046, 29073620, 29132432, 29496538, 29620443, 29662630, 29770473, 30022183, 30268477, 30723502, 31410139, 31650885		★☆☆☆☆ Found in Text Mining only
Carcinoma Pancreatic Ductal	Pancreatic ductal carcinoma	Pubtator	23437362	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	16499955, 21057220, 21442472, 23158473, 23820584, 25176450, 25307974, 25359618, 25375375, 28008951, 28287251, 28440503, 28574782, 28766096, 29458390, 30679390, 31581131		★☆☆☆☆ Found in Text Mining only
Cardio-facio-cutaneous syndrome	Cardiofaciocutaneous syndrome	BEFREE	17366577, 25035421, 29590634, 31024343		★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	BEFREE	31535369		★☆☆☆☆ Found in Text Mining only
Cardiomyopathy, Familial Idiopathic	Cardiomyopathy	BEFREE	24631115, 27696308, 28427040		★☆☆☆☆ Found in Text Mining only
Cellular Ependymoma	Ependymoma	CTD_human_DG	26075792		★☆☆☆☆ Found in Text Mining only
Central Diabetes Insipidus	Diabetes Insipidus	BEFREE	30677238		★☆☆☆☆ Found in Text Mining only
Central Nervous System Neoplasms	Central Nervous System Neoplasms	BEFREE	22157620		★☆☆☆☆ Found in Text Mining only
Central Nervous System Neoplasms	Central Nervous System Neoplasms	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cerebral Infarction	Cerebral Infarction	BEFREE	30073508, 30550742, 31005550, 31599429		★☆☆☆☆ Found in Text Mining only
Cerebrovascular accident	Stroke	BEFREE	30722785		★☆☆☆☆ Found in Text Mining only
cervical cancer	Cervical Cancer	BEFREE	17243165, 24439224, 28800788, 29228418, 29575013, 30213558		★☆☆☆☆ Found in Text Mining only
Cervix carcinoma	Cervix carcinoma	BEFREE	17243165, 22179829, 24439224, 28800788, 29228418, 29575013, 30213558		★☆☆☆☆ Found in Text Mining only
Childhood Ganglioglioma	Ganglioglioma	BEFREE	28840260		★☆☆☆☆ Found in Text Mining only
Childhood Malignant Peripheral Nerve Sheath Tumor	Malignant Peripheral Nerve Sheath Tumor	BEFREE	30112810		★☆☆☆☆ Found in Text Mining only
Childhood Medulloblastoma	Medulloblastoma	BEFREE	21181094, 22723427, 24300787, 28360821, 29212025		★☆☆☆☆ Found in Text Mining only
Cholangiocarcinoma	Cholangiocarcinoma	BEFREE	16767220, 20101459, 30400838, 31106658		★☆☆☆☆ Found in Text Mining only
Cholangiocarcinoma	Cholangiocarcinoma	Pubtator	25012246	Associate	★☆☆☆☆ Found in Text Mining only
Cholestasis	Cholestasis	BEFREE	31316180		★☆☆☆☆ Found in Text Mining only
Chondrosarcoma	Chondrosarcoma	BEFREE	20102637		★☆☆☆☆ Found in Text Mining only
Chordoma	Chordoma	BEFREE	19407855		★☆☆☆☆ Found in Text Mining only
Choriocarcinoma	Choriocarcinoma	BEFREE	24450273, 28849226, 31241986		★☆☆☆☆ Found in Text Mining only
Chronic kidney disease stage 5	Kidney Disease	BEFREE	31514750		★☆☆☆☆ Found in Text Mining only
Chronic Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	17928528, 18796631, 22130798, 24719462, 24901342, 25329694, 27534555, 27903679, 30262568, 30601084		★☆☆☆☆ Found in Text Mining only
Chronic myeloproliferative disorder	Myeloproliferative disorder	BEFREE	28260027, 30206308, 30730307		★☆☆☆☆ Found in Text Mining only
Chronic Obstructive Airway Disease	Chronic Obstructive Pulmonary Disease	BEFREE	28749079		★☆☆☆☆ Found in Text Mining only
Cirrhosis	Cirrhosis	BEFREE	27125275		★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognitive disorder	BEFREE	21113149, 28455524, 30131699		★☆☆☆☆ Found in Text Mining only
Colitis	Colitis	BEFREE	23494124		★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	16272170, 20339854, 20595063, 20837473, 21570766, 22812185, 23073477, 25889965, 27391062, 28417458, 29949153, 30363706, 30629587, 30675292, 30980281, 31266962, 31348616		★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic neoplasm	Pubtator	11920461, 37023088	Associate	★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic Neoplasms	BEFREE	16740153		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	11166921, 11605075, 12408869, 16033834, 16272170, 16288001, 16740153, 17706640, 17906625, 18682749, 18695888, 19344998, 19366806, 19474002, 19499154, 19521235, 19621336, 20339854, 20811717, 20923857, 21503576, 21603658, 21852108, 22448344, 22579651, 22852817, 23900560, 24222164, 24260200, 24612059, 24735981, 25051350, 26377365, 26418750, 27072218, 27356745, 27678457, 27999210, 28041973, 28125661, 28373072, 28455144, 28624785, 28771881, 29039562, 29048669, 29504525, 29614493, 29794421, 29884183, 29988110, 29997437, 30258050, 30365128, 30413483, 30484108, 30501625, 30538561, 30575780, 30854056, 30909065, 30965609, 31125123, 31266962, 31279884, 31380280, 31423282, 31521612		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal Neoplasms	BEFREE	11166921, 16288001, 16740153, 16819508, 19366806, 25239454		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal Neoplasms	LHGDN	15973414, 16740153, 18682749, 18695888		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	16740153, 18682749, 21393996, 21603658, 27398792, 29915291, 34911835, 35272617	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal Neoplasms	CLINVAR_DG	18682749		★☆☆☆☆ Found in Text Mining only
Cone-Rod Dystrophy 2	Cone-rod dystrophy	BEFREE	27932310		★☆☆☆☆ Found in Text Mining only
Congenital arteriovenous malformation	Congenital Arteriovenous Malformation	BEFREE	30922748		★☆☆☆☆ Found in Text Mining only
Congenital atresia of extrahepatic bile duct	Extrahepatic Biliary Atresia	BEFREE	26379158		★☆☆☆☆ Found in Text Mining only
Congenital chromosomal disease	Congenital Chromosomal Disease	BEFREE	29348492, 30642575		★☆☆☆☆ Found in Text Mining only
Congenital contractural arachnodactyly	Congenital Contractural Arachnodactyly	BEFREE	27206490, 30741922		★☆☆☆☆ Found in Text Mining only
Congenital omphalocele	Congenital omphalocele	BEFREE	27748998		★☆☆☆☆ Found in Text Mining only
Contact Dermatitis	Dermatitis	BEFREE	29530536		★☆☆☆☆ Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	BEFREE	18723275, 21813464, 21947243, 28123542, 30771617		★☆☆☆☆ Found in Text Mining only
Costello syndrome (disorder)	Costello syndrome	BEFREE	19035362		★☆☆☆☆ Found in Text Mining only
Cystic Fibrosis	Cystic Fibrosis	BEFREE	21644508		★☆☆☆☆ Found in Text Mining only
Degenerative polyarthritis	Arthritis	BEFREE	25091567, 26247939, 27907835, 28237856, 29268768, 29656315, 29899865, 30451865, 30729704, 30903650, 30959278, 31228817, 31475206		★☆☆☆☆ Found in Text Mining only
Demyelinating Diseases	Demyelinating Diseases	BEFREE	30815939		★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	BEFREE	25690665, 28358367, 30131699, 31281399		★☆☆☆☆ Found in Text Mining only
Dermatitis, Allergic Contact	Dermatitis	BEFREE	24216512		★☆☆☆☆ Found in Text Mining only
Dermatitis, Atopic	Dermatitis	BEFREE	30286163, 30650525		★☆☆☆☆ Found in Text Mining only
Dermatologic disorders	Dermatologic Disorders	BEFREE	30537078		★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Development Disorder	BEFREE	23352452		★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	27696308		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	27696308, 29523003, 30206697		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	27876502, 29475461, 30356368, 30773997, 31178390		★☆☆☆☆ Found in Text Mining only
Diabetic Cardiomyopathies	Diabetic cardiomyopathy	BEFREE	30189217		★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathy	Diabetic Nephropathy	BEFREE	29627824		★☆☆☆☆ Found in Text Mining only
Diabetic Retinopathy	Diabetic Retinopathy	BEFREE	30770549, 31351870		★☆☆☆☆ Found in Text Mining only
Diffuse Large B-Cell Lymphoma	Diffuse Lymphoma	BEFREE	27864293, 31684984, 31775867		★☆☆☆☆ Found in Text Mining only
Disseminated Intravascular Coagulation	Disseminated Intravascular Coagulation	BEFREE	31442556		★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	BEFREE	15748888		★☆☆☆☆ Found in Text Mining only
Dyskinetic syndrome	Dyskinetic Syndrome	BEFREE	29097596, 30337665		★☆☆☆☆ Found in Text Mining only
Dysplastic Nevus	Dysplastic Nevus	BEFREE	20499280		★☆☆☆☆ Found in Text Mining only
EAR, PATELLA, SHORT STATURE SYNDROME	Ear Diseases	BEFREE	31638207		★☆☆☆☆ Found in Text Mining only
Early infantile epileptic encephalopathy with suppression bursts	Epileptic Encephalopathy	BEFREE	29137348		★☆☆☆☆ Found in Text Mining only
Eczema	Eczema	BEFREE	30286163, 30650525		★☆☆☆☆ Found in Text Mining only
Embryonal Rhabdomyosarcoma	Embryonal Rhabdomyosarcoma	BEFREE	21220498, 27104757		★☆☆☆☆ Found in Text Mining only
Endometrial adenocarcinoma	Endometrial Adenocarcinoma	BEFREE	20816914		★☆☆☆☆ Found in Text Mining only
Endometrial Carcinoma	Endometrial carcinoma	BEFREE	16819508, 19787250, 20638106, 21940036, 25377472, 25686835, 26574622, 31737560		★☆☆☆☆ Found in Text Mining only
Endometriosis	Endometriosis	BEFREE	19932734, 22648654, 25996258, 27619769, 29308746, 31547870, 31636643		★☆☆☆☆ Found in Text Mining only
Ependymoma	Ependymoma	BEFREE	20639864, 25801123		★☆☆☆☆ Found in Text Mining only
Ependymoma	Ependymoma	CTD_human_DG	26075792		★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	BEFREE	23055509, 28078614, 28716058, 29358904		★☆☆☆☆ Found in Text Mining only
Epithelial ovarian cancer	Ovarian cancer	BEFREE	21442472		★☆☆☆☆ Found in Text Mining only
Erdheim-Chester Disease	Erdheim-Chester Disease	BEFREE	28664935, 31685033		★☆☆☆☆ Found in Text Mining only
Esophageal carcinoma	Esophageal Carcinoma	BEFREE	22658382, 27933650, 29223420, 29393450, 29693162, 30138923, 30808397, 30981108, 31258746		★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophagus Neoplasm	BEFREE	22658382, 27933650, 29223420, 29693162, 30808397, 30981108, 31258746		★☆☆☆☆ Found in Text Mining only
Esophageal Squamous Cell Carcinoma	Esophageal squamous cell carcinoma	Pubtator	29867084, 32457351, 36870981	Associate	★☆☆☆☆ Found in Text Mining only
Ewings sarcoma	Ewing sarcoma	BEFREE	11002425		★☆☆☆☆ Found in Text Mining only
Familial multiple trichoepitheliomata	Multiple Trichoepithelioma	BEFREE	25888009, 29223420		★☆☆☆☆ Found in Text Mining only
familial non-medullary thyroid cancer	Thyroid cancer	BEFREE	31614935		★☆☆☆☆ Found in Text Mining only
Familial prostate cancer	Prostate Cancer	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Fanconi Anemia	Fanconi Anemia	BEFREE	23585528		★☆☆☆☆ Found in Text Mining only
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)	Anemia	BEFREE	23585528		★☆☆☆☆ Found in Text Mining only
Fibroid Tumor	Leiomyoma	BEFREE	15531510		★☆☆☆☆ Found in Text Mining only
Fibrosarcoma	Fibrosarcoma	BEFREE	10086335, 31076510		★☆☆☆☆ Found in Text Mining only
Fibrosis of pancreas	Fibrosis Of Pancreas	BEFREE	29705706		★☆☆☆☆ Found in Text Mining only
Fibrosis, Liver	Liver Fibrosis	BEFREE	29416088, 30669350, 31839486		★☆☆☆☆ Found in Text Mining only
Focal glomerulosclerosis	Glomerulosclerosis	BEFREE	23645677		★☆☆☆☆ Found in Text Mining only
Focal Segmental Glomerulosclerosis, Not Otherwise Specified	Focal segmental glomerulosclerosis	BEFREE	23645677		★☆☆☆☆ Found in Text Mining only
Gallbladder Carcinoma	Gallbladder cancer	BEFREE	25663464, 27084680, 28285962, 29778567, 30814911		★☆☆☆☆ Found in Text Mining only
Ganglioglioma	Ganglioglioma	BEFREE	28840260		★☆☆☆☆ Found in Text Mining only
Gastrointestinal Neoplasms	Gastrointestinal Neoplasms	BEFREE	11166921		★☆☆☆☆ Found in Text Mining only
Gastrointestinal Stromal Tumors	Gastrointestinal stromal tumor	BEFREE	24970355		★☆☆☆☆ Found in Text Mining only
Generalized seizures	Seizure	BEFREE	28349920		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	10541432, 11315098, 15126357, 17469181, 18249159, 19161638, 21040711, 22004682, 22310282, 23448150, 23708697, 24658464, 25326893, 27167112, 28160553, 28368413, 29531296, 29556339, 29626472, 29662304, 29782850, 29931708, 29945963, 30037819, 30425514, 30542699, 30737375, 31497348, 31776900		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	27132626	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	10541432, 11315098, 15126357, 18249159, 19161638, 21040711, 21896743, 22004682, 22310282, 23448150, 23708697, 24658464, 24676782, 25326893, 27167112, 28160553, 28368413, 29531296, 29556339, 29626472, 29662304, 29782850, 29931708, 29945963, 30037819, 30425514, 30542699, 30737375, 30881035, 31497348, 31776900		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	12165859, 15126357, 19161638, 20650261, 22207524, 25162007, 27012554, 27829269, 28216148, 28247845, 28677773, 28682433		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	LHGDN	15126357		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	31794427, 38286348	Associate	★☆☆☆☆ Found in Text Mining only
Guillain-Barre Syndrome	Guillain-Barre Syndrome	BEFREE	22253732		★☆☆☆☆ Found in Text Mining only
Hairy Cell Leukemia	Hairy Cell Leukemia	BEFREE	21663470, 23211289, 23349307		★☆☆☆☆ Found in Text Mining only
Hairy cell leukemia variant	Hairy Cell Leukemia	BEFREE	23349307		★☆☆☆☆ Found in Text Mining only
Hashimoto Disease	Hashimoto Disease	BEFREE	17900235, 31656199		★☆☆☆☆ Found in Text Mining only
Head and Neck Carcinoma	Head And Neck Carcinoma	BEFREE	27805296		★☆☆☆☆ Found in Text Mining only
Heart Diseases	Heart Diseases	BEFREE	19666137		★☆☆☆☆ Found in Text Mining only
Hemangioma	Hemangioma	BEFREE	24704994, 26308070		★☆☆☆☆ Found in Text Mining only
Hematopoietic Neoplasms	Hematopoietic Neoplasms	BEFREE	12592337		★☆☆☆☆ Found in Text Mining only
Hemorrhage	Hemorrhage	Pubtator	30213874	Associate	★☆☆☆☆ Found in Text Mining only
Henoch-Schoenlein Purpura	Henoch-Schonlein Nephritis	BEFREE	29497996		★☆☆☆☆ Found in Text Mining only
Hepatoblastoma	Hepatoblastoma	BEFREE	31119049		★☆☆☆☆ Found in Text Mining only
Hereditary gingival fibromatosis	Hereditary Gingival Fibromatosis	BEFREE	18004740		★☆☆☆☆ Found in Text Mining only
Hidradenitis Suppurativa	Hidradenitis suppurativa	BEFREE	31608281		★☆☆☆☆ Found in Text Mining only
Histiocytosis	Histiocytosis	BEFREE	28854169, 30098202, 30867592		★☆☆☆☆ Found in Text Mining only
Histiocytosis, Langerhans-Cell	Histiocytosis	BEFREE	26637773, 27314817, 27597420, 27729324, 28622183, 28664935, 29107340, 30098202, 30281871, 31685033		★☆☆☆☆ Found in Text Mining only
Hodgkin Disease	Hodgkin Disease	BEFREE	27767172		★☆☆☆☆ Found in Text Mining only
Huntington Disease	Huntington Disease	BEFREE	22334892, 30021209, 30391672		★☆☆☆☆ Found in Text Mining only
Hypercholesterolemia	Hypercholesterolemia	BEFREE	30709899		★☆☆☆☆ Found in Text Mining only
Hyperglycemia	Hyperglycemia	BEFREE	24720336, 25541468, 26439801, 28962618, 29477910, 30816429, 30816450		★☆☆☆☆ Found in Text Mining only
Hyperlipidemia	Hyperlipidemia	BEFREE	24792518		★☆☆☆☆ Found in Text Mining only
Hyperparathyroidism, Secondary	Hyperparathyroidism	BEFREE	29633272		★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	BEFREE	28277742, 31301303		★☆☆☆☆ Found in Text Mining only
Hypertrophic Cardiomyopathy	Hypertrophic cardiomyopathy	BEFREE	17603483		★☆☆☆☆ Found in Text Mining only
Hypodontia	Hypodontia	BEFREE	30134957		★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	25596742	Associate	★☆☆☆☆ Found in Text Mining only
Hypoxic-Ischemic Encephalopathy	Hypoxic-Ischemic Encephalopathy	BEFREE	30460641		★☆☆☆☆ Found in Text Mining only
Ichthyosis Bullosa of Siemens	Ichthyosis Bullosa Of Siemens	BEFREE	31601124		★☆☆☆☆ Found in Text Mining only
Ichthyosis, X-Linked	Ichthyosis	BEFREE	26909593		★☆☆☆☆ Found in Text Mining only
Idiopathic pulmonary arterial hypertension	Pulmonary arterial hypertension	BEFREE	22688668, 28055284, 30857304		★☆☆☆☆ Found in Text Mining only
IGA Glomerulonephritis	Glomerulonephritis	BEFREE	25782674, 29497996		★☆☆☆☆ Found in Text Mining only
Immune System Diseases	Immune System Diseases	BEFREE	18723128, 29312337		★☆☆☆☆ Found in Text Mining only
Immune thrombocytopenic purpura	Immune Thrombocytopenic Purpura	BEFREE	29971001		★☆☆☆☆ Found in Text Mining only
Immunologic Deficiency Syndromes	Immunologic Deficiency Syndromes	BEFREE	19330021, 21419747, 27573425, 29846015		★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	BEFREE	21113149, 28358367, 28455524, 30374679, 30607903		★☆☆☆☆ Found in Text Mining only
Inclusion Body Myositis (disorder)	Inclusion Body Myositis	BEFREE	28167851		★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory Bowel Disease	BEFREE	30095002		★☆☆☆☆ Found in Text Mining only
insulinoma	Insulinoma	BEFREE	28743549		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	BEFREE	29934348		★☆☆☆☆ Found in Text Mining only
Intervertebral Disc Degeneration	Intervertebral Disc Degeneration	BEFREE	31310371		★☆☆☆☆ Found in Text Mining only
Intestinal Polyposis	Intestinal polyposis	Pubtator	16740153	Associate	★☆☆☆☆ Found in Text Mining only
Intrahepatic Cholangiocarcinoma	Intrahepatic Cholangiocarcinoma	BEFREE	30664713		★☆☆☆☆ Found in Text Mining only
Iron Overload	Iron Overload	BEFREE	28500782		★☆☆☆☆ Found in Text Mining only
Irritable Bowel Syndrome	Irritable Bowel Syndrome	BEFREE	31601124		★☆☆☆☆ Found in Text Mining only
Ischemic stroke	Ischemic Stroke	BEFREE	18644622, 30722785		★☆☆☆☆ Found in Text Mining only
Juvenile Myelomonocytic Leukemia	Myelomonocytic Leukemia	BEFREE	24812670		★☆☆☆☆ Found in Text Mining only
Kabuki make-up syndrome	Kabuki Syndrome	BEFREE	26280580		★☆☆☆☆ Found in Text Mining only
Kaposi Sarcoma	Kaposi Sarcoma	BEFREE	25234715, 9456251		★☆☆☆☆ Found in Text Mining only
Ki-1+ Anaplastic Large Cell Lymphoma	Anaplastic Lymphoma	BEFREE	31804622		★☆☆☆☆ Found in Text Mining only
Kidney Failure	Kidney Failure	BEFREE	31514750		★☆☆☆☆ Found in Text Mining only
Kidney Failure, Acute	Kidney Failure	BEFREE	29504713, 30662622		★☆☆☆☆ Found in Text Mining only
Kidney Failure, Chronic	Kidney Failure	BEFREE	29032117, 31514750		★☆☆☆☆ Found in Text Mining only
Kidney Neoplasm	Kidney Neoplasm	BEFREE	21813464		★☆☆☆☆ Found in Text Mining only
Laryngeal cleft	Laryngeal cleft	BEFREE	29131160		★☆☆☆☆ Found in Text Mining only
leiomyosarcoma	Leiomyosarcoma	BEFREE	28002802		★☆☆☆☆ Found in Text Mining only
LEOPARD Syndrome	LEOPARD Syndrome	BEFREE	22681964		★☆☆☆☆ Found in Text Mining only
Leukemia	Leukemia	Pubtator	17726105, 18394702	Associate	★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	BEFREE	21167276, 23349307, 23707387, 28923853, 30108964		★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	17726105, 24764074, 32393312	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia Myelomonocytic Juvenile	Myelomonocytic leukemia	Pubtator	23620576	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	17077328, 23798675, 24083449, 28397012, 28418085, 28629311, 29208365, 29232553, 30185550		★☆☆☆☆ Found in Text Mining only
Leukemia, Myelomonocytic, Chronic	Myelomonocytic Leukemia	BEFREE	22328940		★☆☆☆☆ Found in Text Mining only
Leukemia, T-Cell	T-cell leukemia	BEFREE	27936393		★☆☆☆☆ Found in Text Mining only
Leukocyte adhesion deficiency type 1	Leukocyte adhesion deficiency	BEFREE	25351745		★☆☆☆☆ Found in Text Mining only
Lip and Oral Cavity Carcinoma	Lip and Oral Cavity Carcinoma	BEFREE	28849149, 30409306		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	14726470, 17427199, 19816936, 21145824, 21513518, 22484587, 22701712, 23537747, 23545258, 23874836, 24039823, 24572810, 24716919, 24807674, 25013376, 25617497, 25683165, 25823821, 26104578, 26222696, 26585812, 26620707, 26636335, 26871477, 27336713, 27427851, 27571925, 27628214, 27688096, 27713963, 27863427, 28077802, 28260092, 28276530, 28454092, 28460481, 28668554, 28674078, 28677801, 28722351, 28867541, 28902369, 28915706, 28928822, 29030911, 29038587, 29048612, 29137357, 29188798, 29210177, 29263422, 29330146, 29399411, 29445125, 29748591, 29763915, 29954442, 30108016, 30142544, 30231922, 30306378, 30423408, 30577605, 30685691, 30779947, 30874538, 30931258, 31128422, 31130519, 31391334, 31417635, 31431469, 31469916, 31555866, 31581704, 31702093, 31823484, 31831168		★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis	Liver Cirrhosis	BEFREE	27125275, 29416088		★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis	Liver cirrhosis	Pubtator	36834826	Associate	★☆☆☆☆ Found in Text Mining only
Liver neoplasms	Liver neoplasms	BEFREE	22701712, 23537747, 23545258, 30306378		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung Neoplasms	BEFREE	26986830		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	28422715	Associate	★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus	Lupus Erythematosus	BEFREE	15204091, 15879118, 17911642, 18723128, 23340289		★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Discoid	Lupus Erythematosus	BEFREE	15204091, 15879118, 17911642, 18723128, 23340289		★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Systemic	Lupus Erythematosus	BEFREE	15188362, 15204091, 15879118, 17082661, 17911642, 18723128, 20976278, 23340289, 24130510, 27915349		★☆☆☆☆ Found in Text Mining only
Lupus Nephritis	Lupus Nephritis	BEFREE	30209639		★☆☆☆☆ Found in Text Mining only
Lupus Vulgaris	Lupus Vulgaris	BEFREE	15204091, 15879118, 17911642, 18723128, 23340289		★☆☆☆☆ Found in Text Mining only
Lymphangioleiomyomatosis	Lymphangiomyomatosis	BEFREE	23983265		★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	33450435	Inhibit	★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	BEFREE	19147787, 22966169, 24697523, 25193962, 28084334, 30323237		★☆☆☆☆ Found in Text Mining only
Lymphoma, Follicular	Lymphoma	BEFREE	29217528		★☆☆☆☆ Found in Text Mining only
Lymphoma, Non-Hodgkin	Non-Hodgkin lymphoma	BEFREE	20976278		★☆☆☆☆ Found in Text Mining only
Major Depressive Disorder	Mental Depression	BEFREE	16959794, 25734512		★☆☆☆☆ Found in Text Mining only
Malignant Bone Neoplasm	Malignant Bone Neoplasm	BEFREE	28034513		★☆☆☆☆ Found in Text Mining only
Malignant Glioma	Glioma	BEFREE	19958818, 23617883, 29069732		★☆☆☆☆ Found in Text Mining only
Malignant mesothelioma	Malignant Mesothelioma	BEFREE	23887168		★☆☆☆☆ Found in Text Mining only
Malignant Mesothelioma of Peritoneum	Peritoneal mesothelioma	BEFREE	28100259		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of brain	Brain Neoplasms	BEFREE	11536309		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	10919709, 12592371, 15029258, 16855386, 17106250, 17516844, 18224398, 18497066, 18597688, 19075597, 19639180, 20353997, 20668305, 21499305, 22073986, 22105362, 22147081, 22176685, 22258408, 22534171, 22765220, 23319603, 24164962, 24211352, 24655548, 25201346, 25257729, 25742792, 26006730, 26151310, 26832794, 26842910, 26853153, 26870995, 26996066, 27341075, 27462780, 27563827, 27705918, 27876502, 28231748, 28241486, 28469788, 28476377, 28647611, 28713975, 28781955, 28975625, 28988130, 29041978, 29190947, 29307829, 29338098, 29468929, 29526753, 29587221, 29743588, 29846015, 29951338, 30003928, 30087941, 30115027, 30371731, 30520151, 30659267, 30674353, 30741723, 30742942, 30810041, 31289549, 31734829, 31771180, 31781505		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of endometrium	Endometrial Cancer	BEFREE	16819508, 19787250, 20638106, 25377472, 25686835		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of esophagus	Esophagus Neoplasm	BEFREE	22658382, 27933650, 29223420, 29693162, 30808397, 30981108, 31258746		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of gallbladder	Gallbladder cancer	BEFREE	25663464, 27084680, 28285962, 29778567, 30814911		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of kidney	Kidney Cancer	BEFREE	30705246		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of liver	Liver Cancer	BEFREE	18521085, 20885449, 23589362, 30901922, 31147803, 31312391, 31492830, 31799198		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	18331824, 19152186, 19836351, 21478903, 21885439, 22387541, 22941060, 23658296, 24068620, 24789704, 25394367, 25697899, 26181029, 26528854, 26884842, 27082640, 27312177, 27677293, 28254703, 28554329, 28884046, 29073620, 29132432, 29496538, 29620443, 29662630, 29770473, 30022183, 30268477, 30723502, 31410139, 31650885		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of mouth	Malignant neoplasm of mouth	BEFREE	26882569, 28849149, 30409306		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	16499955, 18281782, 21057220, 23158473, 23820584, 25176450, 25375375, 28008951, 28287251, 28440503, 28574782, 28766096, 29458390, 30679390		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	18847491, 20726858, 24264800, 24720336, 25646808, 25673820, 25753158, 26439801, 26785721, 27034160, 27278736, 27654574, 27666165, 28400334, 28574828, 28595260, 28679769, 28720574, 28732488, 29072694, 29262554, 29315556, 29683208, 29702094, 30055941, 30355620, 30542713, 30664964, 30833752, 30932257, 31527715, 31602254, 31810373		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	11536309, 11673416, 11676474, 14735201, 14749351, 15300251, 15340430, 16037637, 16155194, 16507112, 16740153, 17143532, 17295209, 19250214, 20853079, 21603658, 21980391, 22200661, 23169297, 23434594, 23538858, 24177231, 24223781, 24604010, 24642271, 25070358, 25279971, 25515250, 26983806, 27176634, 27699813, 28122633, 28674394, 28887309, 29379130, 30142541, 30952632, 31693867, 31805710		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	UNIPROT_DG	15300251, 16155194		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	HPO_DG			★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of skin	Skin cancer	BEFREE	25789706, 27082640		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	12136247, 17295683, 20238226, 21698158, 22293972, 24418260, 24626561, 25136776, 25674211, 26291058, 28002800, 28114937, 28268166, 28901479, 29237470, 29956751, 30015980, 30226606, 30710584, 31249448, 8033077		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of thyroid	Thyroid cancer	BEFREE	23559083, 26695142, 28910386, 30543152, 30978703, 31285773		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of urinary bladder	Urinary bladder cancer	BEFREE	22525723, 23300058, 28178653, 29703843, 30230587, 30482227, 30801954		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	15581913, 15944291, 17016652, 17143532, 17208430, 18025475, 18059185, 18167127, 18412405, 19037990, 19217204, 19330019, 19454503, 19724275, 19948216, 20228838, 20818416, 20838624, 21112319, 21170740, 21220498, 21387288, 21422497, 21426933, 21512138, 21606492, 21703232, 21729876, 21850379, 21852217, 22039050, 22293972, 23143272, 23212737, 23349307, 23352452, 23518796, 24078627, 24083449, 24189697, 24211352, 24439224, 24825855, 25069486, 25086499, 25110417, 25333451, 25374165, 25388165, 25535943, 25815718, 25826088, 25832798, 25833940, 25872469, 26053277, 26104578, 26318312, 26419468, 26510914, 26585812, 26832798, 27082640, 27270426, 27628214, 27678457, 28002807, 28067893, 28108460, 28108627, 28165459, 28229963, 28285962, 28367561, 28415794, 28420162, 28482915, 28521298, 28522751, 28594589, 28617188, 28632938, 28647489, 28674811, 28740606, 28923853, 28982154, 29059157, 29217067, 29259156, 29311225, 29329780, 29330146, 29393362, 29398709, 29431672, 29437792, 29574749, 29760222, 29781537, 29808006, 29880481, 29901199, 29967248, 29970138, 30012504, 30109180, 30181415, 30282811, 30332648, 30352565, 30359388, 30377222, 30487597, 30503936, 30535970, 30544928, 30629587, 30675198, 30854056, 31127990, 31158430, 31608140, 31717402, 31773974, 31805710		★☆☆☆☆ Found in Text Mining only
Malignant Peripheral Nerve Sheath Tumor	Malignant Peripheral Nerve Sheath Tumor	BEFREE	23221341, 27494873, 30112810, 30936125		★☆☆☆☆ Found in Text Mining only
Malignant tumor of cervix	Cervical Tumor	BEFREE	17243165, 24439224, 28800788, 29228418, 29575013, 30213558		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	11166921, 16272170, 20339854, 20595063, 20837473, 22812185, 23073477, 25889965, 27391062, 28417458, 29949153, 30363706, 30629587, 30675292, 30980281, 31266962, 31348616		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	BEFREE	18497066, 25073112, 27082640, 29143998		★☆☆☆☆ Found in Text Mining only
Marfan Syndrome	Marfan Syndrome	BEFREE	28768908		★☆☆☆☆ Found in Text Mining only
Marinesco-Sjogren syndrome	Marinesco-Sjogren Syndrome	BEFREE	24222164		★☆☆☆☆ Found in Text Mining only
Medullary carcinoma of thyroid	Megalencephaly, Polymicrogyria, Polydactyly, Hydrocephalus Syndrome	BEFREE	20570039		★☆☆☆☆ Found in Text Mining only
Medulloblastoma	Medulloblastoma	BEFREE	21181094, 24300787, 28360821, 29212025		★☆☆☆☆ Found in Text Mining only
Melanocytic nevus	Melanocytic nevus	BEFREE	24531394		★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	12591721, 14712208, 16116595, 16964379, 17145881, 17245336, 17388918, 18008004, 18323781, 18508762, 19649202, 19682280, 19755124, 19895547, 20499280, 20679910, 22475322, 23212737, 23381582, 23772146, 23893239, 24576830, 24667377, 25109949, 25294877, 25320010, 25413220, 25538140, 25728708, 25873177, 25989506, 26586345, 26678033, 26791143, 27418645, 27533779, 27572939, 27655717, 27813079, 27911794, 28188776, 28289382, 28343944, 28368422, 28445987, 28485964, 28497782, 28724666, 28938534, 29050218, 29180761, 29295999, 29363351, 29377653, 29413908, 29551771, 29620236, 29684526, 29983861, 30356079, 30396063, 30458112, 31101498, 31186280, 31190430		★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	35260073, 37252843	Associate	★☆☆☆☆ Found in Text Mining only
Meningioma	Meningioma	BEFREE	26840621, 27021020, 28610844		★☆☆☆☆ Found in Text Mining only
Mental Depression	Mental Depression	BEFREE	25690665, 28358367, 30131699, 31281399		★☆☆☆☆ Found in Text Mining only
Mental disorders	Mental Disorders	BEFREE	24080449, 27402753		★☆☆☆☆ Found in Text Mining only
Mesothelioma	Mesothelioma	BEFREE	23887168, 25557874, 29229551, 29968778		★☆☆☆☆ Found in Text Mining only
Mesothelioma	Mesothelioma	Pubtator	23887168	Associate	★☆☆☆☆ Found in Text Mining only
Mesothelioma Malignant	Mesothelioma	Pubtator	23887168	Associate	★☆☆☆☆ Found in Text Mining only
Metastatic melanoma	Metastatic Melanoma	BEFREE	18008004, 21139585		★☆☆☆☆ Found in Text Mining only
Microphakia	Microphakia	BEFREE	31691004		★☆☆☆☆ Found in Text Mining only
Migraine Disorders	Migraine	BEFREE	28323089		★☆☆☆☆ Found in Text Mining only
Mitochondrial Diseases	Mitochondrial disease	Pubtator	30118525	Associate	★☆☆☆☆ Found in Text Mining only
Mitral Valve Stenosis	Mitral Valve Stenosis	BEFREE	29504525		★☆☆☆☆ Found in Text Mining only
Movement Disorders	Movement Disorders	BEFREE	28733355		★☆☆☆☆ Found in Text Mining only
Mucinous Adenocarcinoma	Mucinous Adenocarcinoma	BEFREE	15141374		★☆☆☆☆ Found in Text Mining only
Mucocutaneous Lymph Node Syndrome	Kawasaki disease	BEFREE	25174397		★☆☆☆☆ Found in Text Mining only
Mucoepidermoid Carcinoma	Mucoepidermoid Carcinoma	BEFREE	20664595		★☆☆☆☆ Found in Text Mining only
Multiple endocrine neoplasia Type 2	Multiple Endocrine Neoplasia	BEFREE	15965261		★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	BEFREE	12209879, 19286672, 20506157, 20930946, 24397597, 30315883, 30382763		★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	Pubtator	34558606	Associate	★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple Sclerosis	BEFREE	29504525		★☆☆☆☆ Found in Text Mining only
MYELODYSPLASTIC SYNDROME	Myelodysplastic Syndrome	BEFREE	29805763		★☆☆☆☆ Found in Text Mining only
Myeloid Leukemia	Myeloid Leukemia	BEFREE	23948751		★☆☆☆☆ Found in Text Mining only
Myeloid Leukemia, Chronic	Myeloid Leukemia	BEFREE	22169110, 27677634, 28418880, 28842696, 31542717		★☆☆☆☆ Found in Text Mining only
Myelokathexis	Myelokathexis	BEFREE	23935208		★☆☆☆☆ Found in Text Mining only
Myeloproliferative disease	Myeloproliferative disorder	BEFREE	30206308		★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial Infarction	BEFREE	29232411		★☆☆☆☆ Found in Text Mining only
Myocarditis	Myocarditis	BEFREE	31217849		★☆☆☆☆ Found in Text Mining only
Myxopapillary ependymoma	Myxopapillary Ependymoma	CTD_human_DG	26075792		★☆☆☆☆ Found in Text Mining only
Nasopharyngeal carcinoma	Nasopharyngeal Carcinoma	BEFREE	17458518, 19330019, 22396784, 22952803, 26862850, 29710466, 30590314, 31000196		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	11166921, 11857080, 12185592, 14676841, 15944291, 16033834, 16155194, 16272170, 16288001, 16395408, 16413470, 16740153, 16819508, 16899113, 17493236, 17516844, 18281782, 18287029, 18381570, 18682749, 18987552, 19118061, 19190079, 19649202, 19695657, 19958818, 20167130, 20238226, 20339854, 20569675, 20638106, 20679910, 20699365, 20716165, 20858281, 20923857, 21161727, 21196179, 21245094, 21292437, 21385899, 21387540, 21397862, 21419747, 21503576, 21603658, 21655226, 21703232, 21767082, 21803746, 21847362, 21850379, 21878506, 21980390, 22039050, 22207524, 22236547, 22300088, 22310282, 22376079, 22475322, 22540151, 22634341, 22766504, 22797060, 22892521, 22965873, 22971992, 23119029, 23349307, 23549083, 23844038, 23887168, 23912455, 24211352, 24213576, 24222164, 24340024, 24637722, 24646062, 24727895, 24766673, 25073112, 25109949, 25256412, 25342139, 25605020, 25617497, 25686835, 25753158, 25756510, 25789706, 25801123, 25811077, 25823821, 25826088, 25873177, 25873592, 25935347, 26160848, 26265114, 26265449, 26299806, 26367378, 26390965, 26646588, 26671581, 26682910, 26790955, 26821209, 26846819, 26853153, 26920151, 26959608, 27013495, 27048286, 27064865, 27151939, 27154822, 27240591, 27314817, 27510461, 27528625, 27636997, 27699813, 27708250, 27723760, 27771077, 27864293, 27893711, 27960041, 27998968, 28068095, 28075459, 28165459, 28177903, 28193911, 28359197, 28360821, 28401001, 28418085, 28420162, 28430585, 28647611, 28679769, 28745317, 28771881, 28783719, 28791489, 28800788, 28830537, 28894380, 28931048, 28934982, 28939558, 28982154, 29075041, 29129563, 29141593, 29143998, 29196918, 29242604, 29263422, 29285250, 29370292, 29383168, 29393483, 29395869, 29431672, 29458390, 29541918, 29563610, 29577611, 29599330, 29703569, 29755294, 29760222, 29777330, 29782850, 29846015, 29855346, 29967248, 29970138, 29983861, 30076862, 30082912, 30115027, 30231239, 30398411, 30538561, 30684529, 30720166, 30809081, 30899378, 31125123, 31138758, 31186313, 31190430, 31207212, 31241986, 31308216, 31312030, 31338557, 31435022, 31485597, 31624110, 31634668, 31649890, 31740452, 31760084, 31821539		★☆☆☆☆ Found in Text Mining only
Nephroblastoma	Nephroblastoma	BEFREE	21387540		★☆☆☆☆ Found in Text Mining only
nervous system disorder	Nervous System Disorder	BEFREE	30225774		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	12710931, 15126504, 16120441, 18809477, 19241161, 22948716, 24550142, 25677767, 25756510, 25921289, 26673823, 26892626, 26993602, 28178193, 29184034, 29321660, 29496180, 29571732, 30266481, 30541014, 31100410, 31608140, 8589679		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	Pubtator	25756510	Associate	★☆☆☆☆ Found in Text Mining only
Neurodegenerative Disorders	Neurodegenerative Disorders	BEFREE	25724081, 28854169, 29512453, 30707354, 31786775		★☆☆☆☆ Found in Text Mining only
Neuroendocrine Tumors	Neuroendocrine Tumors	BEFREE	26636335		★☆☆☆☆ Found in Text Mining only
neurofibroma	Neurofibroma	BEFREE	23221341		★☆☆☆☆ Found in Text Mining only
Neurofibromatoses	Neurofibromatosis	BEFREE	23221341		★☆☆☆☆ Found in Text Mining only
Neurofibromatosis 1	Neurofibromatosis	BEFREE	21190184, 26635368, 29477258, 29493886		★☆☆☆☆ Found in Text Mining only
NEUROFIBROMATOSIS, TYPE 1-LIKE SYNDROME	Neurofibromatosis	BEFREE	26635368		★☆☆☆☆ Found in Text Mining only
Neurofibrosarcoma	Neurofibrosarcoma	Pubtator	27494873	Stimulate	★☆☆☆☆ Found in Text Mining only
Nodular Lymphocyte Predominant Hodgkin Lymphoma	Classical Hodgkin lymphoma	BEFREE	30371509		★☆☆☆☆ Found in Text Mining only
Non-alcoholic Fatty Liver Disease	Non-Alcoholic Fatty Liver Disease	BEFREE	30056271		★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	12181740, 15540987, 16909043, 20358631, 22777356, 23133538, 23270470, 23658296, 24117170, 24427333, 24440771, 24573418, 25400829, 25700356, 26542886, 27312177, 27409677, 27748898, 28451792, 28460475, 28731178, 29208568, 29455644, 29493886, 29552290, 29749533, 29789542, 29901173, 30167080, 30275772, 30844110, 31055884, 31119158, 31178144, 31200828, 31273063, 31394555, 31440060, 31634668, 31708104, 31750252, 31821539		★☆☆☆☆ Found in Text Mining only
Noonan Syndrome	Noonan Syndrome	BEFREE	17143282, 17143285, 18378677, 19017799, 22681964, 23391722, 24211266, 25049390, 26670721, 28548091		★☆☆☆☆ Found in Text Mining only
NOONAN SYNDROME 3	Noonan Syndrome	BEFREE	31167915		★☆☆☆☆ Found in Text Mining only
Norrie disease	Norrie Disease	BEFREE	29575791		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	16517408, 19351724, 25625330, 29661693		★☆☆☆☆ Found in Text Mining only
Obsessive-Compulsive Disorder	Obsessive-Compulsive Disorder	BEFREE	28070119		★☆☆☆☆ Found in Text Mining only
Odontogenic Tumors	Odontogenic Tumor	BEFREE	30294831		★☆☆☆☆ Found in Text Mining only
Oestrogen receptor positive breast cancer	Oestrogen Receptor Positive Breast Cancer	BEFREE	24973581, 25971350		★☆☆☆☆ Found in Text Mining only
oligodendroglioma	Oligodendroglioma	BEFREE	25794445		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Oligodontia	Oligodontia	BEFREE	30134957		★☆☆☆☆ Found in Text Mining only
Opitz GBBB Syndrome, X-Linked	Opitz GBBB Syndrome, X-Linked	BEFREE	29137348		★☆☆☆☆ Found in Text Mining only
Optic Atrophy 1	Optic Atrophy	BEFREE	31173361		★☆☆☆☆ Found in Text Mining only
Osteitis Deformans	Paget disease	BEFREE	26848537		★☆☆☆☆ Found in Text Mining only
Osteoglophonic dwarfism	Osteoglosphonic dysplasia	BEFREE	30550742, 31257333		★☆☆☆☆ Found in Text Mining only
Osteopenia	Osteopenia	BEFREE	22344264, 29794404, 30439432		★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	BEFREE	27873024, 29843046, 30576321		★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	BEFREE	22674530, 23201449, 24677094, 25003330, 25227664, 28276320, 29137241, 29285250, 29451351, 30342167, 31210288, 31238539, 31262893, 8033077		★☆☆☆☆ Found in Text Mining only
Ovarian Carcinoma	Ovarian Carcinoma	BEFREE	16499955, 23820584		★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	BEFREE	21057220, 23158473, 25176450, 25375375, 28008951, 28287251, 28440503, 28574782, 28766096, 29458390, 30679390		★☆☆☆☆ Found in Text Mining only
PACHYONYCHIA CONGENITA 3	Pachyonychia Congenita	BEFREE	16964758, 17143532		★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	18847491, 20726858, 21292437, 24264800, 24720336, 25646808, 25673820, 25753158, 26439801, 26785721, 27034160, 27278736, 27654574, 27666165, 28400334, 28574828, 28595260, 28679769, 28720574, 28732488, 29072694, 29262554, 29315556, 29683208, 29702094, 30055941, 30355620, 30542713, 30664964, 30833752, 30932257, 31602254, 31810373		★☆☆☆☆ Found in Text Mining only
Pancreatic Ductal Adenocarcinoma	Pancreatic adenocarcinoma	BEFREE	26547582, 31177911		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasm	Pancreatic Neoplasm	BEFREE	21980390		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	22907845, 23437362, 31147453	Associate	★☆☆☆☆ Found in Text Mining only
Pancreatitis	Pancreatitis	Pubtator	35226426	Associate	★☆☆☆☆ Found in Text Mining only
Papillary ependymoma	Papillary Ependymoma	CTD_human_DG	26075792		★☆☆☆☆ Found in Text Mining only
Papillary thyroid carcinoma	Papillary thyroid carcinoma	BEFREE	17900235, 21190978, 21249150, 22535643, 23544999, 24094449, 25085839, 26392334, 28910386, 29574154, 30519349, 31782107		★☆☆☆☆ Found in Text Mining only
Papilloma	Papilloma	BEFREE	16044159		★☆☆☆☆ Found in Text Mining only
Parathyroid Adenoma	Parathyroid Adenoma	BEFREE	31535356		★☆☆☆☆ Found in Text Mining only
Parathyroid Neoplasms	Parathyroid Neoplasms	BEFREE	27872158		★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	BEFREE	24768991, 28627368, 31539561		★☆☆☆☆ Found in Text Mining only
Patent ductus arteriosus	Patent ductus arteriosus	BEFREE	31583713		★☆☆☆☆ Found in Text Mining only
Pelvic Organ Prolapse	Pelvic Organ Prolapse	BEFREE	31322173		★☆☆☆☆ Found in Text Mining only
Pemphigus	Pemphigus	BEFREE	31057535		★☆☆☆☆ Found in Text Mining only
Pemphigus Foliaceus	Pemphigus Foliaceus	BEFREE	31178865		★☆☆☆☆ Found in Text Mining only
Pemphigus Vulgaris	Pemphigus Vulgaris	BEFREE	31057535, 31178865		★☆☆☆☆ Found in Text Mining only
Periodontitis	Periodontitis	BEFREE	23306101		★☆☆☆☆ Found in Text Mining only
Peripheral Arterial Diseases	Vascular Diseases	BEFREE	31451089		★☆☆☆☆ Found in Text Mining only
Peripheral Nervous System Diseases	Nervous System Diseases	BEFREE	20591826		★☆☆☆☆ Found in Text Mining only
Pilocytic Astrocytoma	Astrocytoma	BEFREE	19373855, 20919607, 21190184, 21228927, 29168690		★☆☆☆☆ Found in Text Mining only
Pituitary Adenoma	Pituitary adenoma	BEFREE	31231308		★☆☆☆☆ Found in Text Mining only
Pituitary Diseases	Pituitary Diseases	BEFREE	28445712		★☆☆☆☆ Found in Text Mining only
Pleomorphic Xanthoastrocytoma	Pleomorphic Xanthoastrocytoma	BEFREE	30517658		★☆☆☆☆ Found in Text Mining only
Polycystic Kidney Autosomal Dominant	Polycystic kidney disease	Pubtator	16870608	Associate	★☆☆☆☆ Found in Text Mining only
Polycystic Kidney Diseases	Polycystic kidney disease	BEFREE	21636640		★☆☆☆☆ Found in Text Mining only
Polycystic Kidney, Autosomal Dominant	Polycystic kidney disease	BEFREE	24184483, 27278932, 31514750		★☆☆☆☆ Found in Text Mining only
Polycystic Ovary Syndrome	Polycystic Ovary Syndrome	BEFREE	29535146		★☆☆☆☆ Found in Text Mining only
Polycythemia Vera	Polycythemia Vera	BEFREE	19815050		★☆☆☆☆ Found in Text Mining only
Post-Traumatic Stress Disorder	Stress Disorder	BEFREE	28977803		★☆☆☆☆ Found in Text Mining only
Precursor Cell Lymphoblastic Leukemia Lymphoma	Lymphoblastic Leukemia	BEFREE	24083449		★☆☆☆☆ Found in Text Mining only
Precursor T-Cell Lymphoblastic Leukemia-Lymphoma	Lymphoblastic Leukemia	BEFREE	27831567		★☆☆☆☆ Found in Text Mining only
Premature aging syndrome	Premature aging	BEFREE	31156709		★☆☆☆☆ Found in Text Mining only
Prolactinoma	Prolactinoma	BEFREE	29726995		★☆☆☆☆ Found in Text Mining only
Prostate cancer familial	Prostate cancer	Pubtator	21603658	Associate	★☆☆☆☆ Found in Text Mining only
Prostate cancer, familial	Prostate cancer	ORPHANET_DG	16155194		★☆☆☆☆ Found in Text Mining only
Prostate cancer, familial	Prostate cancer	BEFREE	21603658		★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	11536309, 11673416, 11676474, 14735201, 14749351, 15300251, 15340430, 15735699, 16037637, 16155194, 16740153, 17143532, 17295209, 19250214, 20853079, 21603658, 21980391, 22200661, 23169297, 23434594, 23538858, 24177231, 24223781, 24604010, 24642271, 25070358, 25279971, 25515250, 26983806, 27176634, 27699813, 28122633, 28674394, 29379130, 30142541, 30952632, 31693867, 31805710		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic Neoplasms	LHGDN	15300251		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	16155194, 16507112, 21603658, 33824421	Associate	★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic Neoplasms	BEFREE	16507112, 19946123		★☆☆☆☆ Found in Text Mining only
Psoriasis	Psoriasis	BEFREE	30077613		★☆☆☆☆ Found in Text Mining only
Pterygium	Pterygium	BEFREE	30365943		★☆☆☆☆ Found in Text Mining only
Pulmonary arterial hypertension	Pulmonary arterial hypertension	BEFREE	28055284, 30857304		★☆☆☆☆ Found in Text Mining only
Pulmonary Disease Chronic Obstructive	Chronic obstructive pulmonary disease	Pubtator	39695952	Associate	★☆☆☆☆ Found in Text Mining only
Pyogenic granuloma	Pyogenic granuloma	BEFREE	31310691		★☆☆☆☆ Found in Text Mining only
Rectal Carcinoma	Rectal Carcinoma	BEFREE	21910869, 30899445		★☆☆☆☆ Found in Text Mining only
Rectal Prolapse	Rectal Prolapse	BEFREE	28620185		★☆☆☆☆ Found in Text Mining only
Refractory anemias	Anemia	BEFREE	28341395		★☆☆☆☆ Found in Text Mining only
Renal carcinoma	Renal Carcinoma	BEFREE	30705246		★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	BEFREE	18723275, 21813464, 28123542, 30771617		★☆☆☆☆ Found in Text Mining only
Renal glomerular disease	Renal Glomerular Disease	BEFREE	21305251		★☆☆☆☆ Found in Text Mining only
Renal Insufficiency	Renal Insufficiency	BEFREE	31014133		★☆☆☆☆ Found in Text Mining only
Respiration Disorders	Respiration Disorders	BEFREE	31209984		★☆☆☆☆ Found in Text Mining only
Respiratory Distress Syndrome, Adult	Respiratory Distress Syndrome	BEFREE	29179596		★☆☆☆☆ Found in Text Mining only
Retinoblastoma	Retinoblastoma	BEFREE	25070358, 28550678, 30703428		★☆☆☆☆ Found in Text Mining only
Retinopathy of Prematurity	Retinopathy	BEFREE	31348907		★☆☆☆☆ Found in Text Mining only
Rhabdomyosarcoma	Rhabdomyosarcoma	BEFREE	16351709, 16899113, 18507018, 21220498, 23684925, 23918606, 26445453, 29445192, 29790086, 29973406		★☆☆☆☆ Found in Text Mining only
Rhabdomyosarcoma	Rhabdomyosarcoma	Pubtator	18507018	Associate	★☆☆☆☆ Found in Text Mining only
Rhabdomyosarcoma Alveolar	Rhabdomyosarcoma	Pubtator	35377340	Associate	★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	17599743, 19415460, 19818765, 25935347, 26265114, 27915349, 28239846, 28341395, 29209219, 30503061, 30503342, 31376257, 31638264		★☆☆☆☆ Found in Text Mining only
Right Ventricular Hypertrophy	Ventricular hypertrophy	BEFREE	29258061		★☆☆☆☆ Found in Text Mining only
Sarcoma	Sarcoma	BEFREE	24470239, 29570692		★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	24284070, 28214564, 31577955		★☆☆☆☆ Found in Text Mining only
Scleroderma	Scleroderma	BEFREE	15691837, 18240216		★☆☆☆☆ Found in Text Mining only
Secondary malignant neoplasm of colon and/or rectum	Colorectal Neoplasms	BEFREE	24763611, 27636997		★☆☆☆☆ Found in Text Mining only
Septicemia	Septicemia	BEFREE	29741098		★☆☆☆☆ Found in Text Mining only
Sinus histiocytosis	Sinus Histiocytosis	BEFREE	28664935, 30323237		★☆☆☆☆ Found in Text Mining only
Skin lesion	Skin Lesion	BEFREE	18025475, 25256412, 30481683		★☆☆☆☆ Found in Text Mining only
Sleep Deprivation	Sleep deprivation	Pubtator	27788485	Associate	★☆☆☆☆ Found in Text Mining only
Small cell carcinoma of lung	Lung carcinoma	BEFREE	18093694, 23515613, 29351916, 29437792, 8589679		★☆☆☆☆ Found in Text Mining only
Small Cell Lung Carcinoma	Small cell lung carcinoma	Pubtator	25122427	Associate	★☆☆☆☆ Found in Text Mining only
Split hand foot deformity 1	Split hand foot deformity	BEFREE	25150293, 31685033		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	BEFREE	20927317, 22546478, 23428654, 24439224, 25265753, 25939760		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of esophagus	Esophagus Neoplasm	BEFREE	22965424, 25175641, 25620088, 27063000, 27721256, 28366557, 28574782, 29331417, 29855346, 30050135, 30172884, 30594787, 31523191		★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	36203528	Associate	★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of oropharynx	Oropharyngeal carcinoma	BEFREE	31027243		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of skin	Skin carcinoma	BEFREE	25256412, 25789706, 30271499, 30881495, 31747091		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of the head and neck	Carcinoma Of The Head And Neck	BEFREE	21655226, 26053277, 29228662, 30115483, 30343534, 31422218, 31661464		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of the hypopharynx	Hypopharyngeal Carcinoma	BEFREE	31620898		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of tongue	Tongue carcinoma	BEFREE	31220513		★☆☆☆☆ Found in Text Mining only
Steroid Sulfatase Deficiency Disease	Steroid Sulfatase Deficiency Disease	BEFREE	26909593		★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	12136247, 17295683, 20238226, 21698158, 22293972, 24418260, 24626561, 25085584, 25136776, 25674211, 26291058, 28002800, 28114937, 28268166, 28901479, 29237470, 29956751, 30015980, 30226606, 30710584, 31220652, 31249448, 8033077		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach Neoplasms	LHGDN	12136247, 17295683		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	12136247, 33450435	Associate	★☆☆☆☆ Found in Text Mining only
Subarachnoid Hemorrhage	Subarachnoid hemorrhage	BEFREE	28149272, 29249938, 29312516, 30481554, 31461955		★☆☆☆☆ Found in Text Mining only
Subcutaneous hemorrhage	Subcutaneous hemorrhage	HPO_DG			★☆☆☆☆ Found in Text Mining only
SVEINSSON CHORIORETINAL ATROPHY	Sveinsson Chorioretinal Atrophy	BEFREE	26319153		★☆☆☆☆ Found in Text Mining only
synovial sarcoma	Synovial sarcoma	BEFREE	15814652		★☆☆☆☆ Found in Text Mining only
Systemic Scleroderma	Scleroderma	BEFREE	15691837, 18240216		★☆☆☆☆ Found in Text Mining only
TARSAL-CARPAL COALITION SYNDROME	Tarsal-Carpal Coalition Syndrome	BEFREE	25148033		★☆☆☆☆ Found in Text Mining only
Testicular Germ Cell Tumor	Testicular Germ Cell Tumor	BEFREE	31235829		★☆☆☆☆ Found in Text Mining only
Thrombosis	Thrombosis	Pubtator	30213874	Associate	★☆☆☆☆ Found in Text Mining only
Thyroid carcinoma	Thyroid Carcinoma	BEFREE	23559083, 26403329, 26695142, 28910386, 30543152, 30978703, 31285773		★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasm	Thyroid Neoplasm	BEFREE	18032931, 23559083, 26695142, 29262556, 29523762, 30543152, 30978703, 31285773		★☆☆☆☆ Found in Text Mining only
Toxic Shock Syndrome	Toxic Shock Syndrome	BEFREE	30660176		★☆☆☆☆ Found in Text Mining only
Transitional cell carcinoma of bladder	Bladder carcinoma	BEFREE	25148033		★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple Negative Breast Neoplasms	BEFREE	22584435, 26546439, 27039296, 28427212, 28465444, 29113326, 29296238, 29574069, 29880481, 30466991, 30658422, 31354356, 31536726		★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple negative breast cancer	Pubtator	31388935	Associate	★☆☆☆☆ Found in Text Mining only
Tuberous Sclerosis	Tuberous Sclerosis	BEFREE	19539245, 21813464		★☆☆☆☆ Found in Text Mining only
TUBEROUS SCLEROSIS 2 (disorder)	Tuberous Sclerosis	BEFREE	21693435, 30115483		★☆☆☆☆ Found in Text Mining only
Tyrosine Kinase 2 Deficiency	Tyrosine kinase 2 deficiency	Pubtator	34811450	Stimulate	★☆☆☆☆ Found in Text Mining only
Ulcerative Colitis	Ulcerative colitis	BEFREE	15704157, 23371318		★☆☆☆☆ Found in Text Mining only
Uranostaphyloschisis	Uranostaphyloschisis	BEFREE	16681403		★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	34296545	Associate	★☆☆☆☆ Found in Text Mining only
Urothelial Carcinoma	Urothelial Carcinoma	BEFREE	30288546		★☆☆☆☆ Found in Text Mining only
Uterine Fibroids	Uterine Fibroids	BEFREE	15531510		★☆☆☆☆ Found in Text Mining only
Van der Woude syndrome	Van Der Woude Syndrome	BEFREE	30864715		★☆☆☆☆ Found in Text Mining only
Ventricular arrhythmia	Ventricular arrhythmia	BEFREE	30338842, 31555539		★☆☆☆☆ Found in Text Mining only
Well Differentiated Oligodendroglioma	Oligodendroglioma	BEFREE	25794445		★☆☆☆☆ Found in Text Mining only
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C	Xeroderma Pigmentosum	BEFREE	25871391		★☆☆☆☆ Found in Text Mining only