LOX (lysyl oxidase)

Gene

• Entrez ID: 4015
• Gene name: Lysyl oxidase
• Gene symbol: LOX
• Synonyms (NCBI Gene): AAT10
• Chromosome: 5
• Chromosome location: 5q23.1
• Summary: This gene encodes a member of the lysyl oxidase family of proteins. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed to generate a regulatory propeptide and the m

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs886040966	C>T	Likely-pathogenic, pathogenic	Coding sequence variant, upstream transcript variant, genic upstream transcript variant, stop gained
rs1372924173	G>-	Likely-pathogenic	Coding sequence variant, genic upstream transcript variant, frameshift variant, upstream transcript variant
rs1473260982	C>A,T	Pathogenic	Missense variant, stop gained, coding sequence variant, genic upstream transcript variant, upstream transcript variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT003516	hsa-miR-124-3p	Review	20144549
MIRT018405	hsa-miR-335-5p	Microarray	18185580
MIRT437550	hsa-miR-29a-3p	Luciferase reporter assay	22745231
MIRT437556	hsa-miR-29b-3p	Luciferase reporter assay	22745231
MIRT437561	hsa-miR-29c-3p	Luciferase reporter assay	22745231
MIRT437571	hsa-miR-767-5p	Luciferase reporter assay	22745231
MIRT437556	hsa-miR-29b-3p	Luciferase reporter assay, qRT-PCR	23354167
MIRT438051	hsa-miR-200b-3p	Luciferase reporter assay, qRT-PCR, Western blot	23975428
MIRT437556	hsa-miR-29b-3p	Luciferase reporter assay, qRT-PCR	23354167
MIRT438051	hsa-miR-200b-3p	Luciferase reporter assay, qRT-PCR, Western blot	23975428
MIRT442626	hsa-miR-548e-5p	PAR-CLIP	22100165
MIRT442625	hsa-miR-4280	PAR-CLIP	22100165
MIRT442624	hsa-miR-3120-5p	PAR-CLIP	22100165
MIRT442623	hsa-miR-6830-3p	PAR-CLIP	22100165
MIRT442622	hsa-miR-142-3p	PAR-CLIP	22100165
MIRT442621	hsa-miR-6888-3p	PAR-CLIP	22100165
MIRT442620	hsa-miR-511-5p	PAR-CLIP	22100165
MIRT442619	hsa-miR-3591-5p	PAR-CLIP	22100165
MIRT442618	hsa-miR-4743-3p	PAR-CLIP	22100165
MIRT442626	hsa-miR-548e-5p	PAR-CLIP	22100165
MIRT442625	hsa-miR-4280	PAR-CLIP	22100165
MIRT442624	hsa-miR-3120-5p	PAR-CLIP	22100165
MIRT442623	hsa-miR-6830-3p	PAR-CLIP	22100165
MIRT442622	hsa-miR-142-3p	PAR-CLIP	22100165
MIRT442621	hsa-miR-6888-3p	PAR-CLIP	22100165
MIRT442620	hsa-miR-511-5p	PAR-CLIP	22100165
MIRT442619	hsa-miR-3591-5p	PAR-CLIP	22100165
MIRT442618	hsa-miR-4743-3p	PAR-CLIP	22100165
MIRT731147	hsa-miR-30a-5p	Western blot, Luciferase reporter assay, Immunohistochemistry	25488748
MIRT731147	hsa-miR-30a-5p	Western blot, Luciferase reporter assay, Immunohistochemistry	25488748
MIRT437556	hsa-miR-29b-3p	qRT-PCR	25744716
MIRT437556	hsa-miR-29b-3p	qRT-PCR	25744716
MIRT442626	hsa-miR-548e-5p	PAR-CLIP	22100165
MIRT442625	hsa-miR-4280	PAR-CLIP	22100165
MIRT442624	hsa-miR-3120-5p	PAR-CLIP	22100165
MIRT442623	hsa-miR-6830-3p	PAR-CLIP	22100165
MIRT442622	hsa-miR-142-3p	PAR-CLIP	22100165
MIRT442621	hsa-miR-6888-3p	PAR-CLIP	22100165
MIRT442620	hsa-miR-511-5p	PAR-CLIP	22100165
MIRT442619	hsa-miR-3591-5p	PAR-CLIP	22100165
MIRT442618	hsa-miR-4743-3p	PAR-CLIP	22100165
MIRT442626	hsa-miR-548e-5p	PAR-CLIP	22100165
MIRT442625	hsa-miR-4280	PAR-CLIP	22100165
MIRT442624	hsa-miR-3120-5p	PAR-CLIP	22100165
MIRT442623	hsa-miR-6830-3p	PAR-CLIP	22100165
MIRT442622	hsa-miR-142-3p	PAR-CLIP	22100165
MIRT442621	hsa-miR-6888-3p	PAR-CLIP	22100165
MIRT442620	hsa-miR-511-5p	PAR-CLIP	22100165
MIRT442619	hsa-miR-3591-5p	PAR-CLIP	22100165
MIRT442618	hsa-miR-4743-3p	PAR-CLIP	22100165
MIRT1115331	hsa-miR-124	CLIP-seq
MIRT1115332	hsa-miR-1273g	CLIP-seq
MIRT1115333	hsa-miR-3065-5p	CLIP-seq
MIRT1115334	hsa-miR-3714	CLIP-seq
MIRT1115335	hsa-miR-3910	CLIP-seq
MIRT1115336	hsa-miR-4477b	CLIP-seq
MIRT1115337	hsa-miR-506	CLIP-seq
MIRT1115338	hsa-miR-583	CLIP-seq
MIRT1115339	hsa-miR-935	CLIP-seq
MIRT1115340	hsa-miR-1260	CLIP-seq
MIRT1115341	hsa-miR-1260b	CLIP-seq
MIRT1115342	hsa-miR-188-3p	CLIP-seq
MIRT1115343	hsa-miR-3145-3p	CLIP-seq
MIRT1115344	hsa-miR-3156-3p	CLIP-seq
MIRT1115345	hsa-miR-3653	CLIP-seq
MIRT1115346	hsa-miR-3658	CLIP-seq
MIRT1115347	hsa-miR-3689a-5p	CLIP-seq
MIRT1115348	hsa-miR-3689b	CLIP-seq
MIRT1115349	hsa-miR-3689e	CLIP-seq
MIRT1115350	hsa-miR-3689f	CLIP-seq
MIRT1115351	hsa-miR-3713	CLIP-seq
MIRT1115352	hsa-miR-3924	CLIP-seq
MIRT1115353	hsa-miR-4279	CLIP-seq
MIRT1115354	hsa-miR-4301	CLIP-seq
MIRT1115355	hsa-miR-4446-5p	CLIP-seq
MIRT1115356	hsa-miR-4474-5p	CLIP-seq
MIRT1115357	hsa-miR-4477a	CLIP-seq
MIRT1115358	hsa-miR-4670-3p	CLIP-seq
MIRT1115359	hsa-miR-4711-3p	CLIP-seq
MIRT1115360	hsa-miR-4724-5p	CLIP-seq
MIRT1115361	hsa-miR-4790-3p	CLIP-seq
MIRT1115362	hsa-miR-942	CLIP-seq
MIRT1550797	hsa-miR-1200	CLIP-seq
MIRT1550798	hsa-miR-1273d	CLIP-seq
MIRT1550799	hsa-miR-134	CLIP-seq
MIRT1550800	hsa-miR-200b	CLIP-seq
MIRT1550801	hsa-miR-200c	CLIP-seq
MIRT1550802	hsa-miR-24	CLIP-seq
MIRT1550803	hsa-miR-3118	CLIP-seq
MIRT1550804	hsa-miR-3136-5p	CLIP-seq
MIRT1550805	hsa-miR-3140-5p	CLIP-seq
MIRT1550806	hsa-miR-3148	CLIP-seq
MIRT1550807	hsa-miR-3164	CLIP-seq
MIRT1550808	hsa-miR-3675-3p	CLIP-seq
MIRT1550809	hsa-miR-374c	CLIP-seq
MIRT1550810	hsa-miR-4284	CLIP-seq
MIRT1550811	hsa-miR-429	CLIP-seq
MIRT1550812	hsa-miR-4427	CLIP-seq
MIRT1550813	hsa-miR-4439	CLIP-seq
MIRT1550814	hsa-miR-4496	CLIP-seq
MIRT1550815	hsa-miR-4513	CLIP-seq
MIRT1550816	hsa-miR-4659a-5p	CLIP-seq
MIRT1550817	hsa-miR-4659b-5p	CLIP-seq
MIRT1550818	hsa-miR-4720-3p	CLIP-seq
MIRT1550819	hsa-miR-4768-5p	CLIP-seq
MIRT1550820	hsa-miR-4776-3p	CLIP-seq
MIRT1550821	hsa-miR-4777-5p	CLIP-seq
MIRT1550822	hsa-miR-4795-3p	CLIP-seq
MIRT1550823	hsa-miR-488	CLIP-seq
MIRT1550824	hsa-miR-518d-5p	CLIP-seq
MIRT1550825	hsa-miR-519b-5p	CLIP-seq
MIRT1550826	hsa-miR-519c-5p	CLIP-seq
MIRT1550827	hsa-miR-520c-5p	CLIP-seq
MIRT1550828	hsa-miR-526a	CLIP-seq
MIRT1550829	hsa-miR-655	CLIP-seq
MIRT1550830	hsa-miR-889	CLIP-seq
MIRT1550797	hsa-miR-1200	CLIP-seq
MIRT1550798	hsa-miR-1273d	CLIP-seq
MIRT1550799	hsa-miR-134	CLIP-seq
MIRT1550800	hsa-miR-200b	CLIP-seq
MIRT1550801	hsa-miR-200c	CLIP-seq
MIRT1550803	hsa-miR-3118	CLIP-seq
MIRT1550804	hsa-miR-3136-5p	CLIP-seq
MIRT1550805	hsa-miR-3140-5p	CLIP-seq
MIRT1550807	hsa-miR-3164	CLIP-seq
MIRT1550811	hsa-miR-429	CLIP-seq
MIRT1550812	hsa-miR-4427	CLIP-seq
MIRT1550813	hsa-miR-4439	CLIP-seq
MIRT1550815	hsa-miR-4513	CLIP-seq
MIRT1550831	hsa-miR-514	CLIP-seq
MIRT1550832	hsa-miR-514b-3p	CLIP-seq
MIRT1550833	hsa-miR-526b	CLIP-seq
MIRT1550834	hsa-miR-578	CLIP-seq
MIRT2032453	hsa-miR-145	CLIP-seq
MIRT2262949	hsa-miR-2054	CLIP-seq
MIRT2262950	hsa-miR-3646	CLIP-seq
MIRT1550809	hsa-miR-374c	CLIP-seq
MIRT2262951	hsa-miR-380	CLIP-seq
MIRT2262952	hsa-miR-425	CLIP-seq
MIRT2262953	hsa-miR-4495	CLIP-seq
MIRT2262954	hsa-miR-4698	CLIP-seq
MIRT2262955	hsa-miR-590-3p	CLIP-seq
MIRT1550829	hsa-miR-655	CLIP-seq
MIRT1550800	hsa-miR-200b	CLIP-seq
MIRT1550801	hsa-miR-200c	CLIP-seq
MIRT2262950	hsa-miR-3646	CLIP-seq
MIRT1550811	hsa-miR-429	CLIP-seq
MIRT1550822	hsa-miR-4795-3p	CLIP-seq
MIRT1550800	hsa-miR-200b	CLIP-seq
MIRT1550801	hsa-miR-200c	CLIP-seq
MIRT1550802	hsa-miR-24	CLIP-seq
MIRT2262950	hsa-miR-3646	CLIP-seq
MIRT1550810	hsa-miR-4284	CLIP-seq
MIRT1550811	hsa-miR-429	CLIP-seq
MIRT2262953	hsa-miR-4495	CLIP-seq
MIRT2430796	hsa-miR-4775	CLIP-seq
MIRT1550822	hsa-miR-4795-3p	CLIP-seq
MIRT1550823	hsa-miR-488	CLIP-seq
MIRT2430797	hsa-miR-591	CLIP-seq
MIRT1115335	hsa-miR-3910	CLIP-seq
MIRT2262950	hsa-miR-3646	CLIP-seq
MIRT1550822	hsa-miR-4795-3p	CLIP-seq
MIRT1550823	hsa-miR-488	CLIP-seq
MIRT2562218	hsa-miR-105	CLIP-seq
MIRT1550797	hsa-miR-1200	CLIP-seq
MIRT2562219	hsa-miR-1244	CLIP-seq
MIRT2562220	hsa-miR-1257	CLIP-seq
MIRT1550798	hsa-miR-1273d	CLIP-seq
MIRT2562221	hsa-miR-128	CLIP-seq
MIRT2562222	hsa-miR-129-5p	CLIP-seq
MIRT2562223	hsa-miR-1910	CLIP-seq
MIRT2562224	hsa-miR-1914	CLIP-seq
MIRT2562225	hsa-miR-199a-3p	CLIP-seq
MIRT2562226	hsa-miR-199b-3p	CLIP-seq
MIRT1550800	hsa-miR-200b	CLIP-seq
MIRT1550801	hsa-miR-200c	CLIP-seq
MIRT2562227	hsa-miR-219-5p	CLIP-seq
MIRT2562228	hsa-miR-27a	CLIP-seq
MIRT2562229	hsa-miR-27b	CLIP-seq
MIRT2562230	hsa-miR-28-5p	CLIP-seq
MIRT2562231	hsa-miR-298	CLIP-seq
MIRT2562232	hsa-miR-29a	CLIP-seq
MIRT2562233	hsa-miR-29b	CLIP-seq
MIRT2562234	hsa-miR-29c	CLIP-seq
MIRT2562235	hsa-miR-3065-3p	CLIP-seq
MIRT2562236	hsa-miR-3129-5p	CLIP-seq
MIRT2562237	hsa-miR-3139	CLIP-seq
MIRT1550805	hsa-miR-3140-5p	CLIP-seq
MIRT2562238	hsa-miR-3143	CLIP-seq
MIRT1550806	hsa-miR-3148	CLIP-seq
MIRT2562239	hsa-miR-3163	CLIP-seq
MIRT2562240	hsa-miR-3189-3p	CLIP-seq
MIRT2562241	hsa-miR-337-3p	CLIP-seq
MIRT2562242	hsa-miR-3591-3p	CLIP-seq
MIRT2562243	hsa-miR-3611	CLIP-seq
MIRT2562244	hsa-miR-3613-3p	CLIP-seq
MIRT2262950	hsa-miR-3646	CLIP-seq
MIRT1115345	hsa-miR-3653	CLIP-seq
MIRT2562245	hsa-miR-3657	CLIP-seq
MIRT1115346	hsa-miR-3658	CLIP-seq
MIRT2562246	hsa-miR-3662	CLIP-seq
MIRT2562247	hsa-miR-3671	CLIP-seq
MIRT2562248	hsa-miR-3672	CLIP-seq
MIRT1550808	hsa-miR-3675-3p	CLIP-seq
MIRT2562249	hsa-miR-3678-3p	CLIP-seq
MIRT2562250	hsa-miR-3680	CLIP-seq
MIRT1550809	hsa-miR-374c	CLIP-seq
MIRT1115352	hsa-miR-3924	CLIP-seq
MIRT2562251	hsa-miR-4263	CLIP-seq
MIRT2562252	hsa-miR-4282	CLIP-seq
MIRT1550811	hsa-miR-429	CLIP-seq
MIRT2562253	hsa-miR-4325	CLIP-seq
MIRT2562254	hsa-miR-4326	CLIP-seq
MIRT2562255	hsa-miR-4328	CLIP-seq
MIRT2562256	hsa-miR-4420	CLIP-seq
MIRT1550812	hsa-miR-4427	CLIP-seq
MIRT2562257	hsa-miR-4445	CLIP-seq
MIRT1550814	hsa-miR-4496	CLIP-seq
MIRT2562258	hsa-miR-4503	CLIP-seq
MIRT2562259	hsa-miR-450b-5p	CLIP-seq
MIRT2562260	hsa-miR-451b	CLIP-seq
MIRT2562261	hsa-miR-4540	CLIP-seq
MIRT2562262	hsa-miR-4637	CLIP-seq
MIRT2562263	hsa-miR-4645-3p	CLIP-seq
MIRT2562264	hsa-miR-4652-3p	CLIP-seq
MIRT2562265	hsa-miR-4668-3p	CLIP-seq
MIRT2562266	hsa-miR-4669	CLIP-seq
MIRT1115358	hsa-miR-4670-3p	CLIP-seq
MIRT2262954	hsa-miR-4698	CLIP-seq
MIRT2562267	hsa-miR-4714-5p	CLIP-seq
MIRT2562268	hsa-miR-4717-3p	CLIP-seq
MIRT1550818	hsa-miR-4720-3p	CLIP-seq
MIRT2562269	hsa-miR-4735-5p	CLIP-seq
MIRT2562270	hsa-miR-4764-3p	CLIP-seq
MIRT2562271	hsa-miR-4766-5p	CLIP-seq
MIRT1550821	hsa-miR-4777-5p	CLIP-seq
MIRT2562272	hsa-miR-4781-3p	CLIP-seq
MIRT2562273	hsa-miR-4782-3p	CLIP-seq
MIRT2562274	hsa-miR-4799-5p	CLIP-seq
MIRT2562275	hsa-miR-4804-3p	CLIP-seq
MIRT1550823	hsa-miR-488	CLIP-seq
MIRT2562276	hsa-miR-507	CLIP-seq
MIRT2562277	hsa-miR-508-3p	CLIP-seq
MIRT2562278	hsa-miR-511	CLIP-seq
MIRT2562279	hsa-miR-513a-5p	CLIP-seq
MIRT1550824	hsa-miR-518d-5p	CLIP-seq
MIRT1550825	hsa-miR-519b-5p	CLIP-seq
MIRT1550826	hsa-miR-519c-5p	CLIP-seq
MIRT1550827	hsa-miR-520c-5p	CLIP-seq
MIRT1550828	hsa-miR-526a	CLIP-seq
MIRT2562280	hsa-miR-543	CLIP-seq
MIRT2562281	hsa-miR-548l	CLIP-seq
MIRT2562282	hsa-miR-550b	CLIP-seq
MIRT2562283	hsa-miR-557	CLIP-seq
MIRT2562284	hsa-miR-576-3p	CLIP-seq
MIRT2562285	hsa-miR-576-5p	CLIP-seq
MIRT2562286	hsa-miR-577	CLIP-seq
MIRT2562287	hsa-miR-607	CLIP-seq
MIRT2562288	hsa-miR-626	CLIP-seq
MIRT1550829	hsa-miR-655	CLIP-seq
MIRT2562289	hsa-miR-656	CLIP-seq
MIRT2562290	hsa-miR-708	CLIP-seq
MIRT2562291	hsa-miR-875-3p	CLIP-seq
MIRT1550830	hsa-miR-889	CLIP-seq
MIRT2562218	hsa-miR-105	CLIP-seq
MIRT1550797	hsa-miR-1200	CLIP-seq
MIRT1115331	hsa-miR-124	CLIP-seq
MIRT2562219	hsa-miR-1244	CLIP-seq
MIRT2562220	hsa-miR-1257	CLIP-seq
MIRT1550798	hsa-miR-1273d	CLIP-seq
MIRT2562221	hsa-miR-128	CLIP-seq
MIRT2684008	hsa-miR-1283	CLIP-seq
MIRT2562222	hsa-miR-129-5p	CLIP-seq
MIRT2684009	hsa-miR-1297	CLIP-seq
MIRT2684010	hsa-miR-140-3p	CLIP-seq
MIRT2684011	hsa-miR-155	CLIP-seq
MIRT2562223	hsa-miR-1910	CLIP-seq
MIRT2684012	hsa-miR-1913	CLIP-seq
MIRT2562224	hsa-miR-1914	CLIP-seq
MIRT2684013	hsa-miR-197	CLIP-seq
MIRT2684014	hsa-miR-1976	CLIP-seq
MIRT2562225	hsa-miR-199a-3p	CLIP-seq
MIRT2562226	hsa-miR-199b-3p	CLIP-seq
MIRT1550800	hsa-miR-200b	CLIP-seq
MIRT1550801	hsa-miR-200c	CLIP-seq
MIRT2262949	hsa-miR-2054	CLIP-seq
MIRT2684015	hsa-miR-218	CLIP-seq
MIRT2562227	hsa-miR-219-5p	CLIP-seq
MIRT2684016	hsa-miR-223	CLIP-seq
MIRT2684017	hsa-miR-26a	CLIP-seq
MIRT2684018	hsa-miR-26b	CLIP-seq
MIRT2562228	hsa-miR-27a	CLIP-seq
MIRT2562229	hsa-miR-27b	CLIP-seq
MIRT2562230	hsa-miR-28-5p	CLIP-seq
MIRT2562231	hsa-miR-298	CLIP-seq
MIRT2562232	hsa-miR-29a	CLIP-seq
MIRT2562233	hsa-miR-29b	CLIP-seq
MIRT2562234	hsa-miR-29c	CLIP-seq
MIRT2562235	hsa-miR-3065-3p	CLIP-seq
MIRT2684019	hsa-miR-30a	CLIP-seq
MIRT2684020	hsa-miR-30b	CLIP-seq
MIRT2684021	hsa-miR-30c	CLIP-seq
MIRT2684022	hsa-miR-30d	CLIP-seq
MIRT2684023	hsa-miR-30e	CLIP-seq
MIRT2684024	hsa-miR-3121-5p	CLIP-seq
MIRT2562236	hsa-miR-3129-5p	CLIP-seq
MIRT2562237	hsa-miR-3139	CLIP-seq
MIRT1550805	hsa-miR-3140-5p	CLIP-seq
MIRT2562238	hsa-miR-3143	CLIP-seq
MIRT2684025	hsa-miR-3146	CLIP-seq
MIRT1550806	hsa-miR-3148	CLIP-seq
MIRT2684026	hsa-miR-3153	CLIP-seq
MIRT2562239	hsa-miR-3163	CLIP-seq
MIRT2562240	hsa-miR-3189-3p	CLIP-seq
MIRT2684027	hsa-miR-324-3p	CLIP-seq
MIRT2684028	hsa-miR-331-5p	CLIP-seq
MIRT2562241	hsa-miR-337-3p	CLIP-seq
MIRT2562242	hsa-miR-3591-3p	CLIP-seq
MIRT2562243	hsa-miR-3611	CLIP-seq
MIRT2562244	hsa-miR-3613-3p	CLIP-seq
MIRT2684029	hsa-miR-361-5p	CLIP-seq
MIRT2262950	hsa-miR-3646	CLIP-seq
MIRT1115345	hsa-miR-3653	CLIP-seq
MIRT2562245	hsa-miR-3657	CLIP-seq
MIRT1115346	hsa-miR-3658	CLIP-seq
MIRT2562246	hsa-miR-3662	CLIP-seq
MIRT2562247	hsa-miR-3671	CLIP-seq
MIRT2562248	hsa-miR-3672	CLIP-seq
MIRT1550808	hsa-miR-3675-3p	CLIP-seq
MIRT2562249	hsa-miR-3678-3p	CLIP-seq
MIRT2562250	hsa-miR-3680	CLIP-seq
MIRT1115334	hsa-miR-3714	CLIP-seq
MIRT1550809	hsa-miR-374c	CLIP-seq
MIRT2684030	hsa-miR-375	CLIP-seq
MIRT2262951	hsa-miR-380	CLIP-seq
MIRT1115335	hsa-miR-3910	CLIP-seq
MIRT1115352	hsa-miR-3924	CLIP-seq
MIRT2684031	hsa-miR-410	CLIP-seq
MIRT2262952	hsa-miR-425	CLIP-seq
MIRT2562251	hsa-miR-4263	CLIP-seq
MIRT2562252	hsa-miR-4282	CLIP-seq
MIRT1550811	hsa-miR-429	CLIP-seq
MIRT2684032	hsa-miR-4307	CLIP-seq
MIRT2562253	hsa-miR-4325	CLIP-seq
MIRT2562254	hsa-miR-4326	CLIP-seq
MIRT2562255	hsa-miR-4328	CLIP-seq
MIRT2562256	hsa-miR-4420	CLIP-seq
MIRT2684033	hsa-miR-4421	CLIP-seq
MIRT1550812	hsa-miR-4427	CLIP-seq
MIRT2562257	hsa-miR-4445	CLIP-seq
MIRT2684034	hsa-miR-4452	CLIP-seq
MIRT2684035	hsa-miR-4465	CLIP-seq
MIRT1115336	hsa-miR-4477b	CLIP-seq
MIRT2262953	hsa-miR-4495	CLIP-seq
MIRT1550814	hsa-miR-4496	CLIP-seq
MIRT2562258	hsa-miR-4503	CLIP-seq
MIRT2562259	hsa-miR-450b-5p	CLIP-seq
MIRT2562260	hsa-miR-451b	CLIP-seq
MIRT2562261	hsa-miR-4540	CLIP-seq
MIRT2684036	hsa-miR-455-5p	CLIP-seq
MIRT2684037	hsa-miR-4635	CLIP-seq
MIRT2562262	hsa-miR-4637	CLIP-seq
MIRT2684038	hsa-miR-4639-5p	CLIP-seq
MIRT2684039	hsa-miR-4641	CLIP-seq
MIRT2562263	hsa-miR-4645-3p	CLIP-seq
MIRT2562264	hsa-miR-4652-3p	CLIP-seq
MIRT2562265	hsa-miR-4668-3p	CLIP-seq
MIRT2684040	hsa-miR-4668-5p	CLIP-seq
MIRT2562266	hsa-miR-4669	CLIP-seq
MIRT1115358	hsa-miR-4670-3p	CLIP-seq
MIRT2684041	hsa-miR-4697-3p	CLIP-seq
MIRT2262954	hsa-miR-4698	CLIP-seq
MIRT2684042	hsa-miR-4700-3p	CLIP-seq
MIRT2562267	hsa-miR-4714-5p	CLIP-seq
MIRT2562268	hsa-miR-4717-3p	CLIP-seq
MIRT1550818	hsa-miR-4720-3p	CLIP-seq
MIRT2562269	hsa-miR-4735-5p	CLIP-seq
MIRT2684043	hsa-miR-4760-3p	CLIP-seq
MIRT2562270	hsa-miR-4764-3p	CLIP-seq
MIRT2562271	hsa-miR-4766-5p	CLIP-seq
MIRT2430796	hsa-miR-4775	CLIP-seq
MIRT1550821	hsa-miR-4777-5p	CLIP-seq
MIRT2562272	hsa-miR-4781-3p	CLIP-seq
MIRT2562273	hsa-miR-4782-3p	CLIP-seq
MIRT1550822	hsa-miR-4795-3p	CLIP-seq
MIRT2562274	hsa-miR-4799-5p	CLIP-seq
MIRT2562275	hsa-miR-4804-3p	CLIP-seq
MIRT1550823	hsa-miR-488	CLIP-seq
MIRT2684044	hsa-miR-499-3p	CLIP-seq
MIRT2684045	hsa-miR-499a-3p	CLIP-seq
MIRT1115337	hsa-miR-506	CLIP-seq
MIRT2562276	hsa-miR-507	CLIP-seq
MIRT2562277	hsa-miR-508-3p	CLIP-seq
MIRT2562278	hsa-miR-511	CLIP-seq
MIRT2562279	hsa-miR-513a-5p	CLIP-seq
MIRT1550824	hsa-miR-518d-5p	CLIP-seq
MIRT1550825	hsa-miR-519b-5p	CLIP-seq
MIRT1550826	hsa-miR-519c-5p	CLIP-seq
MIRT1550827	hsa-miR-520c-5p	CLIP-seq
MIRT1550828	hsa-miR-526a	CLIP-seq
MIRT1550833	hsa-miR-526b	CLIP-seq
MIRT2562280	hsa-miR-543	CLIP-seq
MIRT2562281	hsa-miR-548l	CLIP-seq
MIRT2684046	hsa-miR-548n	CLIP-seq
MIRT2684047	hsa-miR-548p	CLIP-seq
MIRT2684048	hsa-miR-548t	CLIP-seq
MIRT2562282	hsa-miR-550b	CLIP-seq
MIRT2562283	hsa-miR-557	CLIP-seq
MIRT2562284	hsa-miR-576-3p	CLIP-seq
MIRT2562285	hsa-miR-576-5p	CLIP-seq
MIRT2562286	hsa-miR-577	CLIP-seq
MIRT1550834	hsa-miR-578	CLIP-seq
MIRT2684049	hsa-miR-579	CLIP-seq
MIRT1115338	hsa-miR-583	CLIP-seq
MIRT2262955	hsa-miR-590-3p	CLIP-seq
MIRT2562287	hsa-miR-607	CLIP-seq
MIRT2562288	hsa-miR-626	CLIP-seq
MIRT2684050	hsa-miR-636	CLIP-seq
MIRT1550829	hsa-miR-655	CLIP-seq
MIRT2562289	hsa-miR-656	CLIP-seq
MIRT2684051	hsa-miR-660	CLIP-seq
MIRT2562290	hsa-miR-708	CLIP-seq
MIRT2562291	hsa-miR-875-3p	CLIP-seq
MIRT2684052	hsa-miR-888	CLIP-seq
MIRT1550830	hsa-miR-889	CLIP-seq
MIRT1115339	hsa-miR-935	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
GATA3	Repression	21892208
HIF1A	Unknown	17685448

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001568	Process	Blood vessel development	IEA
GO:0001649	Process	Osteoblast differentiation	IEA
GO:0004720	Function	Protein-lysine 6-oxidase activity	IBA
GO:0004720	Function	Protein-lysine 6-oxidase activity	IDA	31152061
GO:0004720	Function	Protein-lysine 6-oxidase activity	IEA
GO:0004720	Function	Protein-lysine 6-oxidase activity	ISS
GO:0004720	Function	Protein-lysine 6-oxidase activity	TAS	1352776
GO:0005507	Function	Copper ion binding	IEA
GO:0005507	Function	Copper ion binding	TAS	1357535
GO:0005515	Function	Protein binding	IPI	19570982, 19855011, 21690299, 22919265, 25118846, 26601954, 27339457, 30082873
GO:0005518	Function	Collagen binding	IDA	31152061
GO:0005576	Component	Extracellular region	IEA
GO:0005576	Component	Extracellular region	ISS
GO:0005576	Component	Extracellular region	TAS
GO:0005581	Component	Collagen trimer	IEA
GO:0005615	Component	Extracellular space	IBA
GO:0005615	Component	Extracellular space	IDA	31152061
GO:0007507	Process	Heart development	IEA
GO:0009410	Process	Response to xenobiotic stimulus	IEA
GO:0009725	Process	Response to hormone	IEA
GO:0010468	Process	Regulation of gene expression	IEA
GO:0016202	Process	Regulation of striated muscle tissue development	IEA
GO:0016491	Function	Oxidoreductase activity	IEA
GO:0016641	Function	Oxidoreductase activity, acting on the CH-NH2 group of donors, oxygen as acceptor	IEA
GO:0017015	Process	Regulation of transforming growth factor beta receptor signaling pathway	IEA
GO:0018057	Process	Peptidyl-lysine oxidation	IDA	31152061
GO:0030199	Process	Collagen fibril organization	IBA
GO:0030199	Process	Collagen fibril organization	IEA
GO:0030199	Process	Collagen fibril organization	IEA
GO:0030282	Process	Bone mineralization	IEA
GO:0030324	Process	Lung development	IEA
GO:0031012	Component	Extracellular matrix	IEA
GO:0035791	Process	Platelet-derived growth factor receptor-beta signaling pathway	IBA
GO:0035791	Process	Platelet-derived growth factor receptor-beta signaling pathway	IEA
GO:0035904	Process	Aorta development	IEA
GO:0035905	Process	Ascending aorta development	IEA
GO:0035906	Process	Descending aorta development	IEA
GO:0036094	Function	Small molecule binding	IPI	30082873
GO:0036211	Process	Protein modification process	TAS	1685472
GO:0042981	Process	Regulation of apoptotic process	IEA
GO:0045652	Process	Regulation of megakaryocyte differentiation	IEA
GO:0046716	Process	Muscle cell cellular homeostasis	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0048251	Process	Elastic fiber assembly	IEA
GO:0048251	Process	Elastic fiber assembly	IEA
GO:0048514	Process	Blood vessel morphogenesis	IEA
GO:0048514	Process	Blood vessel morphogenesis	ISS
GO:0048545	Process	Response to steroid hormone	IEA
GO:0051898	Process	Negative regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction	IEA
GO:0055001	Process	Muscle cell development	IEA
GO:0060090	Function	Molecular adaptor activity	IPI	30082873
GO:0060326	Process	Cell chemotaxis	IEA
GO:0061448	Process	Connective tissue development	IEA
GO:0071897	Process	DNA biosynthetic process	IEA
GO:1903010	Process	Regulation of bone development	IEA
GO:1990869	Process	Cellular response to chemokine	IEA
GO:2000586	Process	Regulation of platelet-derived growth factor receptor-beta signaling pathway	IEA

Other IDs

• MIM: 153455
• HGNC: 6664
• e!Ensembl: ENSG00000113083

Protein

• UniProt ID: P28300
• Protein name: Protein-lysine 6-oxidase (EC 1.4.3.13) (Lysyl oxidase) [Cleaved into: Protein-lysine 6-oxidase, long form; Protein-lysine 6-oxidase, short form]
• Protein function: Responsible for the post-translational oxidative deamination of peptidyl lysine residues in precursors to fibrous collagen and elastin (PubMed:26838787). Regulator of Ras expression. May play a role in tumor suppression. Plays a role in the aort
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF01186	Lysyl_oxidase	213 → 414	Lysyl oxidase	Family

• Tissue specificity: TISSUE SPECIFICITY: Heart, placenta, skeletal muscle, kidney, lung and pancreas. {ECO:0000269|PubMed:7706256}.
• Sequence:

  MRFAWTVLLLGPLQLCALVHCAPPAAGQQQPPREPPAAPGAWRQQIQWENNGQVFSLLSL
  GSQYQPQRRRDPGAAVPGAANASAQQPRTPILLIRDNRTAAARTRTAGSSGVTAGRPRPT
  ARHWFQAGYSTSRAREAGASRAENQTAPGEVPALSNLRPPSRVDGMVGDDPYNPYKYSDD
  NPYYNYYDTYERPRPGGRYRPGYGTGYFQYGLPDLVADPYYIQASTYVQKMSMYNLRCAA
  EENCLASTAYRADVRDYDHRVLLRFPQRVKNQGTSDFLPSRPRYSWEWHSCHQHYHSMDE
  FSHYDLLDANTQRRVAEGHKASFCLEDTSCDYGYHRRFACTAHTQGLSPGCYDTYGADID
  CQWIDITDVKPGNYILKVSVNPSYLVPESDYTNNVVRCDIRYTGHHAYASGCTISPY

• Sequence length: 417

Pathways

Reactome:

Elastic fibre formation
Crosslinking of collagen fibrils

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
Acute aortic dissection	Pathogenic; Likely pathogenic	rs886040965, rs886040966, rs886040967, rs1473260982	RCV000755148 RCV000755141 RCV000755144 RCV000755142	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Aortic aneurysm, familial thoracic 10	Pathogenic; Likely pathogenic	rs766969559, rs1274931972, rs2152591749, rs2532908171, rs2532917019, rs2532918070, rs876657852, rs2532901248, rs886040965, rs886040966, rs886040967, rs1754655630, rs1213452826, rs1754538399	RCV001780381 RCV001780380 RCV001780379 RCV002287219 RCV002468741 RCV002470472 RCV000258026 RCV003159272 RCV000258025 RCV000258033 RCV000258037 RCV003335841 RCV003144387 RCV001251164	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Cardiomyopathy	Likely pathogenic; Pathogenic	rs2532911330	RCV006255215	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Cardiovascular phenotype	Pathogenic; Likely pathogenic	rs779512296, rs2532911330, rs2532911338, rs2532918093, rs2532917759, rs2532917277, rs2532916357, rs1473260982, rs756849358	RCV002386582 RCV002412612 RCV002445883 RCV002389209 RCV002424210 RCV002441867 RCV004513494 RCV002352260 RCV002366100	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Congenital aneurysm of ascending aorta	Pathogenic; Likely pathogenic	rs886040965, rs886040966, rs886040967, rs1473260982	RCV000755148 RCV000755141 RCV000755144 RCV000755142	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Cutis laxa	Likely pathogenic	rs1436353084	RCV001530398	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Familial thoracic aortic aneurysm and aortic dissection	Likely pathogenic; Pathogenic	rs2532917019, rs876657852, rs886040966	RCV005250251 RCV000213633 RCV000766258	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Generalized arterial tortuosity	Likely pathogenic	rs1436353084	RCV001530398	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
LOX-related disorder	Pathogenic	rs779512296	RCV004545831	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Abnormal facial shape	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AORTIC VALVE INSUFFICIENCY	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BILIARY CIRRHOSIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHRONIC OBSTRUCTIVE PULMONARY DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL CONTRACTURAL ARACHNODACTYLY	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONNECTIVE TISSUE DISEASES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Connective tissue disorder	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORONARY ARTERY DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DISSECTION, AORTIC ACUTE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EHLERS-DANLOS SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Emphysema	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEPATITIS B	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEPATITIS C	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEPATOLENTICULAR DEGENERATION	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTENSION, PULMONARY	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTENSIVE DISEASE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Increased number of skin folds	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Interphalangeal joint contracture of finger	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
KERATOCONUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LIVER CIRRHOSIS	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LIVER CIRRHOSIS, BILIARY	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LIVER CIRRHOSIS, EXPERIMENTAL	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LOX POLYMORPHISM	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MARFAN SYNDROME	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ORAL SUBMUCOSAL FIBROSIS, INCLUDING OF TONGUE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ORAL SUBMUCOUS FIBROSIS	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOSARCOMA	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pleural effusion	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PRIMARY BILIARY CHOLANGITIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RHEUMATIC AORTIC REGURGITATION	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Acute Megakaryocytic Leukemias	Megakaryocytic Leukemia	BEFREE	30553442		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma	Adenocarcinoma	BEFREE	19724858		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	BEFREE	28284717, 28337298, 29472856		★☆☆☆☆ Found in Text Mining only
Adenoma of large intestine	Colorectal adenoma	BEFREE	17236225		★☆☆☆☆ Found in Text Mining only
Adenomatous Polyposis Coli	Multiple polyposis syndrome	BEFREE	22960430		★☆☆☆☆ Found in Text Mining only
Allergic rhinitis (disorder)	Allergic rhinitis	BEFREE	29468959		★☆☆☆☆ Found in Text Mining only
Anaplastic thyroid carcinoma	Anaplastic thyroid cancer	BEFREE	25488748, 26818109		★☆☆☆☆ Found in Text Mining only
Angle Closure Glaucoma	Angle Closure Glaucoma	BEFREE	31725165		★☆☆☆☆ Found in Text Mining only
ANOPHTHALMIA AND PULMONARY HYPOPLASIA	Syndromic microphthalmia	BEFREE	27050073		★☆☆☆☆ Found in Text Mining only
Aortic Aneurysm	Aortic Aneurysm	BEFREE	23764410, 31554420, 31814612		★☆☆☆☆ Found in Text Mining only
Aortic Aneurysm	Aortic Aneurysm	GENOMICS_ENGLAND_DG	27432961		★☆☆☆☆ Found in Text Mining only
Aortic Aneurysm	Aortic aneurysm	Pubtator	34281165	Associate	★☆☆☆☆ Found in Text Mining only
Aortic Aneurysm Abdominal	Aortic aneurysm	Pubtator	29191809, 31473210	Associate	★☆☆☆☆ Found in Text Mining only
Aortic Aneurysm Thoracic	Thoracic aortic aneurysm	Pubtator	23764410	Stimulate	★☆☆☆☆ Found in Text Mining only
Aortic Aneurysm Thoracic	Thoracic aortic aneurysm	Pubtator	38002926	Associate	★☆☆☆☆ Found in Text Mining only
Aortic Aneurysm, Abdominal	Aortic Aneurysm	BEFREE	26435026, 27473778, 31473210, 31559828		★☆☆☆☆ Found in Text Mining only
Aortic Aneurysm, Abdominal	Aortic Aneurysm	HPO_DG			★☆☆☆☆ Found in Text Mining only
AORTIC ANEURYSM, FAMILIAL THORACIC 10	Aortic Aneurysm	UNIPROT_DG	26838787, 27432961		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
AORTIC ANEURYSM, FAMILIAL THORACIC 10	Aortic Aneurysm	GENOMICS_ENGLAND_DG	27432961		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
AORTIC ANEURYSM, FAMILIAL THORACIC 10	Aortic Aneurysm	CTD_human_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
AORTIC ANEURYSM, FAMILIAL THORACIC 10	Aortic Aneurysm	CLINVAR_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Aortic Aneurysm, Thoracic	Aortic Aneurysm	BEFREE	26838787, 27432961		★☆☆☆☆ Found in Text Mining only
Aortic Diseases	Aortic disease	Pubtator	23764410, 38002926	Associate	★☆☆☆☆ Found in Text Mining only
Aortic Diseases	Aortic Diseases	BEFREE	26838787, 27432961, 31211696		★☆☆☆☆ Found in Text Mining only
Aortic Dissection	Aortic dissection	Pubtator	26838787, 34281165	Associate	★☆☆☆☆ Found in Text Mining only
Aortic Valve Insufficiency	Aortic Valve Insufficiency	CTD_human_DG	21216836		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Aortic Valve Insufficiency	Aortic Valve Insufficiency	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Aortic Valve Stenosis	Aortic Valve Sclerosis	BEFREE	28091585		★☆☆☆☆ Found in Text Mining only
Arachnodactyly	Arachnodactyly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Arteriosclerosis	Arteriosclerosis	BEFREE	21474962, 23103162, 27837103, 28036074		★☆☆☆☆ Found in Text Mining only
Arthritis	Arthritis	BEFREE	28901438, 30210691		★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	BEFREE	29468959		★☆☆☆☆ Found in Text Mining only
Astrocytoma	Astrocytoma	BEFREE	25790191		★☆☆☆☆ Found in Text Mining only
Astrocytoma	Astrocytoma	Pubtator	25790191, 36076905	Associate	★☆☆☆☆ Found in Text Mining only
Ataxia Telangiectasia	Ataxia Telangiectasia	BEFREE	26804196		★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	BEFREE	21474962, 23103162, 27837103, 28036074		★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	Pubtator	24588843, 35874788	Associate	★☆☆☆☆ Found in Text Mining only
Atrial Fibrillation	Atrial Fibrillation	BEFREE	21215756		★☆☆☆☆ Found in Text Mining only
Atrial Fibrillation	Atrial fibrillation	Pubtator	33356379	Stimulate	★☆☆☆☆ Found in Text Mining only
Benign Prostatic Hyperplasia	Benign Prostatic Hyperplasia	BEFREE	28143503		★☆☆☆☆ Found in Text Mining only
Bicuspid aortic valve	Bicuspid aortic valve	BEFREE	23525417		★☆☆☆☆ Found in Text Mining only
Bicuspid aortic valve	Bicuspid aortic valve	HPO_DG			★☆☆☆☆ Found in Text Mining only
Bicuspid Aortic Valve Disease	Bicuspid aortic valve	Pubtator	23764410	Associate	★☆☆☆☆ Found in Text Mining only
Bile Duct Diseases	Bile duct disease	Pubtator	38096955	Associate	★☆☆☆☆ Found in Text Mining only
Biliary cirrhosis	Biliary cirrhosis	CTD_human_DG	16023247		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Biliary Cirrhosis, Primary, 1	Biliary cirrhosis	CTD_human_DG	16023247		★☆☆☆☆ Found in Text Mining only
Bladder Diverticulum	Bladder Diverticulum	BEFREE	31336972		★☆☆☆☆ Found in Text Mining only
Bladder neck obstruction	Bladder neck obstruction	BEFREE	28592436		★☆☆☆☆ Found in Text Mining only
Bladder Neoplasm	Bladder Neoplasm	BEFREE	17456585		★☆☆☆☆ Found in Text Mining only
Blister	Blister	Pubtator	35874788	Associate	★☆☆☆☆ Found in Text Mining only
Blood Platelet Disorders	Platelet disorder	Pubtator	29209148	Stimulate	★☆☆☆☆ Found in Text Mining only
Bone Fragility with Contractures Arterial Rupture and Deafness	Bone fragility with contractures, arterial rupture, and deafness	Pubtator	15831618	Associate	★☆☆☆☆ Found in Text Mining only
Brain Neoplasms	Brain neoplasms	Pubtator	29775160	Associate	★☆☆☆☆ Found in Text Mining only
Brain Tumor, Primary	Brain Neoplasms	BEFREE	23758270		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	12154058, 17471532, 17685448, 19029090, 19654310, 20498644, 20929399, 21233336, 21911388, 22231744, 22434522, 22921864, 22994786, 23033492, 23856251, 24167568, 24882580, 25141126, 26265048, 27029493, 27860390, 29434955, 29579155, 30181809, 30890638, 31093946		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	17130123, 18765548, 19029090, 20498644, 21911388, 22994786, 25141126, 26068592, 27147578, 29261141, 29775160, 31932435, 33087801, 36232621	Associate	★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	19597471	Inhibit	★☆☆☆☆ Found in Text Mining only
Bronchioloalveolar Adenocarcinoma	Lung adenocarcinoma	BEFREE	9484712		★☆☆☆☆ Found in Text Mining only
Bronchopulmonary Dysplasia	Bronchopulmonary Dysplasia	BEFREE	19797161, 28698228		★☆☆☆☆ Found in Text Mining only
Cancer of Urinary Tract	Urinary Tract Cancer	BEFREE	29732010		★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	20345486, 27367711	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	23856251, 28143503, 30045039		★☆☆☆☆ Found in Text Mining only
Carcinoma Ductal Breast	Ductal carcinoma of breast	Pubtator	9033266	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	30919528, 34206143	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Intraductal Noninfiltrating	Intraductal noninfiltrating carcinoma	Pubtator	18928525	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma of bladder	Bladder carcinoma	BEFREE	17456585		★☆☆☆☆ Found in Text Mining only
Carcinoma of larynx	Laryngeal carcinoma	BEFREE	28116994		★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	15792754, 20956321, 21690299, 22438909, 27367711, 31830613		★☆☆☆☆ Found in Text Mining only
Carcinoma Ovarian Epithelial	Epithelial ovarian carcinoma	Pubtator	23545606	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	11720477, 27336447, 27449199, 32013938, 34449964	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	22533780, 22906264, 23545606, 23970168, 25174950, 28495238		★☆☆☆☆ Found in Text Mining only
Cardiomegaly	Cardiomegaly	Pubtator	36046382	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathy, Familial Idiopathic	Cardiomyopathy	BEFREE	17849172		★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular Diseases	BEFREE	18469024, 21474962, 21612403, 28522596, 28715234, 31615160		★☆☆☆☆ Found in Text Mining only
Cerebrovascular accident	Stroke	BEFREE	28761986		★☆☆☆☆ Found in Text Mining only
Cerebrovascular Disorders	Cerebrovascular Disorders	BEFREE	28476896		★☆☆☆☆ Found in Text Mining only
cervical cancer	Cervical Cancer	BEFREE	24945327		★☆☆☆☆ Found in Text Mining only
Cervix carcinoma	Cervix carcinoma	BEFREE	24945327		★☆☆☆☆ Found in Text Mining only
Cholangiocarcinoma	Cholangiocarcinoma	Pubtator	38096955	Associate	★☆☆☆☆ Found in Text Mining only
Cholesteatoma	Cholesteatoma	BEFREE	23832258		★☆☆☆☆ Found in Text Mining only
Chromosomal Instability	Chromosomal instability	Pubtator	29167120	Associate	★☆☆☆☆ Found in Text Mining only
Chronic Disease	Chronic disease	Pubtator	34080027	Associate	★☆☆☆☆ Found in Text Mining only
Chronic heart failure	Heart Failure	BEFREE	19075089, 28091585		★☆☆☆☆ Found in Text Mining only
Chronic myeloproliferative disorder	Myeloproliferative disorder	BEFREE	23494965		★☆☆☆☆ Found in Text Mining only
Chronic Obstructive Airway Disease	Chronic Obstructive Pulmonary Disease	BEFREE	29468959		★☆☆☆☆ Found in Text Mining only
Clear-cell metastatic renal cell carcinoma	Renal Carcinoma	BEFREE	27336447		★☆☆☆☆ Found in Text Mining only
Clubfoot	Clubfoot	Pubtator	34769331, 35292718	Associate	★☆☆☆☆ Found in Text Mining only
Colitis Ulcerative	Ulcerative colitis	Pubtator	31584460	Associate	★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	11807790, 27367711, 28947950		★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic Neoplasms	BEFREE	11807790		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	19724858, 21282564, 22641216, 24008360, 25112403, 27367711, 27742687, 29209148, 29766649		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal Neoplasms	BEFREE	11807790		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	24246612, 27367711, 29209148, 29766649, 32286443, 38267662	Associate	★☆☆☆☆ Found in Text Mining only
Congenital aneurysm of ascending aorta	Congenital Aneurysm Of Ascending Aorta	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Congenital contractural arachnodactyly	Congenital Contractural Arachnodactyly	BEFREE	31322171		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital ichthyosis	Congenital Ichthyosis	BEFREE	23954555		★☆☆☆☆ Found in Text Mining only
Congenital Nonbullous Ichthyosiform Erythroderma	Congenital Nonbullous Ichthyosiform Erythroderma	BEFREE	23954555		★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	BEFREE	17849172, 19075089, 20472764, 28091585, 28522596, 28668305, 29775412, 31317653		★☆☆☆☆ Found in Text Mining only
Connective Tissue Diseases	Connective tissue disease	Pubtator	6120954	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Connective Tissue Diseases	Connective Tissue Disease	BEFREE	7508709, 8983023		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	BEFREE	11720477, 30816490		★☆☆☆☆ Found in Text Mining only
Corneal dystrophy	Corneal Dystrophy	BEFREE	8875187		★☆☆☆☆ Found in Text Mining only
Coronary Arteriosclerosis	Coronary Arteriosclerosis	BEFREE	21612403		★☆☆☆☆ Found in Text Mining only
Coronary Arteriosclerosis	Coronary Arteriosclerosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	BEFREE	21612403		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Coronary Artery Disease	Coronary artery disease	GWASCAT_DG	28714974		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Coronary Artery Dissection Spontaneous	Spontaneous coronary artery dissection	Pubtator	15831618, 33125268, 34281165	Associate	★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn Disease	BEFREE	29672662		★☆☆☆☆ Found in Text Mining only
Cutis Laxa	Cutis Laxa	BEFREE	1448, 18819152, 6104292, 9111998		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Cutis Laxa	Cutis laxa	Pubtator	7930686	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Cutis laxa, x-linked	Cutis Laxa, X-Linked	BEFREE	11431706, 31336972, 6104292, 8638917		★☆☆☆☆ Found in Text Mining only
Cutis marmorata	Cutis marmorata	HPO_DG			★☆☆☆☆ Found in Text Mining only
Degenerative polyarthritis	Arthritis	BEFREE	28624448		★☆☆☆☆ Found in Text Mining only
Dermatologic disorders	Dermatologic Disorders	BEFREE	11773004, 16085123		★☆☆☆☆ Found in Text Mining only
Descending aortic dissection	Descending aortic dissection	HPO_DG			★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	28522400, 29051043, 30550614		★☆☆☆☆ Found in Text Mining only
Diabetes Complications	Diabetes complications	Pubtator	35806251	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes mellitus	Pubtator	27104752, 31546618	Stimulate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	28522400, 29051043, 30550614, 31614631		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	28522400, 28715234, 29051043		★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathies	Diabetic neuropathy	Pubtator	38174742	Associate	★☆☆☆☆ Found in Text Mining only
Diabetic Retinopathy	Diabetic Retinopathy	BEFREE	22966818, 25562624, 31022398, 31537300, 31546618		★☆☆☆☆ Found in Text Mining only
Diabetic Retinopathy	Diabetic retinopathy	Pubtator	31546618	Associate	★☆☆☆☆ Found in Text Mining only
Differentiated Thyroid Gland Carcinoma	Thyroid Carcinoma	BEFREE	25488748		★☆☆☆☆ Found in Text Mining only
Disorder of eye	Disorder Of Eye	BEFREE	12766045		★☆☆☆☆ Found in Text Mining only
Dissecting aortic aneurysm	Dissecting Aortic Aneurysm	BEFREE	26838787		★☆☆☆☆ Found in Text Mining only
Dissection Ascending Aorta	Dissection of aorta	Pubtator	26838787	Associate	★☆☆☆☆ Found in Text Mining only
Dissection of aorta	Aortic dissection	BEFREE	26838787, 27329825		★☆☆☆☆ Found in Text Mining only
Dyslipidemias	Dyslipidemias	BEFREE	28761986		★☆☆☆☆ Found in Text Mining only
Dyspnea, Paroxysmal	Dyspnea, Paroxysmal	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ehlers-Danlos syndrome type 5	Ehlers-Danlos Syndrome	BEFREE	7086195		★☆☆☆☆ Found in Text Mining only
Endometriosis	Endometriosis	BEFREE	25963914		★☆☆☆☆ Found in Text Mining only
Endometriosis	Endometriosis	Pubtator	25963914, 35616875	Associate	★☆☆☆☆ Found in Text Mining only
Eosinophilic esophagitis	Eosinophilia	BEFREE	30578874		★☆☆☆☆ Found in Text Mining only
Eosinophilic Esophagitis	Eosinophilia	Pubtator	30578874	Associate	★☆☆☆☆ Found in Text Mining only
Epithelial ovarian cancer	Ovarian cancer	BEFREE	23545606		★☆☆☆☆ Found in Text Mining only
Erectile dysfunction	Erectile Dysfunction	BEFREE	29278308, 29502979		★☆☆☆☆ Found in Text Mining only
Esophageal carcinoma	Esophageal Carcinoma	BEFREE	31599475		★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophagus Neoplasm	BEFREE	31599475		★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophageal neoplasm	Pubtator	31599475	Associate	★☆☆☆☆ Found in Text Mining only
Esophageal Squamous Cell Carcinoma	Esophageal squamous cell carcinoma	Pubtator	31599475	Associate	★☆☆☆☆ Found in Text Mining only
Ewings sarcoma	Ewing sarcoma	BEFREE	23750284		★☆☆☆☆ Found in Text Mining only
Exfoliation Syndrome	Exfoliation Syndrome	BEFREE	19664108		★☆☆☆☆ Found in Text Mining only
Familial thoracic aortic aneurysm and aortic dissection	Thoracic Aortic Aneurysm And Aortic Dissection	CLINGEN_DG	12417550, 12473682, 1975633, 26838787, 27432961		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Familial thoracic aortic aneurysm and aortic dissection	Thoracic Aortic Aneurysm And Aortic Dissection	CLINVAR_DG	26838787, 27432961, 30675029		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Familial thoracic aortic aneurysm and aortic dissection	Thoracic Aortic Aneurysm And Aortic Dissection	ORPHANET_DG	26838787, 27432961		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Familial thoracic aortic aneurysm and aortic dissection	Thoracic Aortic Aneurysm And Aortic Dissection	Orphanet			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Familial thoracic aortic aneurysm and aortic dissection	Thoracic Aortic Aneurysm And Aortic Dissection	GENOMICS_ENGLAND_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Fibrosis, Liver	Liver Fibrosis	BEFREE	10022501, 30180301, 30257391, 31724452		★☆☆☆☆ Found in Text Mining only
Fibrosis, Liver	Liver Fibrosis	CTD_human_DG	26396155		★☆☆☆☆ Found in Text Mining only
Glaucoma	Glaucoma	Pubtator	23748100	Associate	★☆☆☆☆ Found in Text Mining only
Glaucoma	Glaucoma	BEFREE	27116380		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	20671264, 25790191, 28994107		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	20671264, 25790191, 32510239, 34354698, 36076905	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	36397358	Stimulate	★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	20671264, 25790191, 28994107, 31185211		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	23758270, 29729273, 31185211		★☆☆☆☆ Found in Text Mining only
Glomerulonephritis	Glomerulonephritis	BEFREE	16086153		★☆☆☆☆ Found in Text Mining only
Glomerulonephritis IGA	Iga nephropathy	Pubtator	38174742	Associate	★☆☆☆☆ Found in Text Mining only
Glomerulonephritis Membranous	Membranous glomerulonephritis	Pubtator	38174742	Associate	★☆☆☆☆ Found in Text Mining only
Head and Neck Carcinoma	Head And Neck Carcinoma	BEFREE	20654727		★☆☆☆☆ Found in Text Mining only
Head and Neck Neoplasms	Head and neck neoplasm	Pubtator	19667273	Associate	★☆☆☆☆ Found in Text Mining only
Heart Diseases	Heart Diseases	BEFREE	20472764, 29775412, 31504232		★☆☆☆☆ Found in Text Mining only
Heart failure	Heart Failure	LHGDN	17849172		★☆☆☆☆ Found in Text Mining only
Heart failure	Heart Failure	BEFREE	19075089, 20472764, 28522596, 28668305, 29775412, 31317653		★☆☆☆☆ Found in Text Mining only
Heart Failure	Heart failure	Pubtator	19075089, 21329845, 37334749	Associate	★☆☆☆☆ Found in Text Mining only
Hepatic Form of Wilson Disease	Hepatolenticular degeneration	CTD_human_DG	16023247		★☆☆☆☆ Found in Text Mining only
Hepatolenticular Degeneration	Hepatolenticular Degeneration	BEFREE	16023247, 8980283		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatolenticular Degeneration	Hepatolenticular Degeneration	LHGDN	16023247		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatolenticular Degeneration	Hepatolenticular Degeneration	CTD_human_DG	16023247		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatolenticular Degeneration	Hepatolenticular degeneration	Pubtator	8980283	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Homocystinuria	Homocystinuria	BEFREE	6825304		★☆☆☆☆ Found in Text Mining only
Hypercholesterolemia	Hypercholesterolemia	BEFREE	27837103		★☆☆☆☆ Found in Text Mining only
Hyperglycemia	Hyperglycemia	BEFREE	29051043		★☆☆☆☆ Found in Text Mining only
Hypertension	Hypertension	Pubtator	29167120	Associate	★☆☆☆☆ Found in Text Mining only
Hypertension Pulmonary	Pulmonary hypertension	Pubtator	36483920	Associate	★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	BEFREE	24065528, 28010122, 28157237, 29167120, 30770717, 30917408, 31615160		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypertensive disease	Hypertension	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypocupremia	Hypocupremia	BEFREE	23651769		★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	18427106, 20498644, 21477371, 23140307, 23545606, 25405996, 26515140, 28143503, 28284922, 30919528, 33679749, 34206143	Associate	★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	20026874, 21911388, 25166211	Stimulate	★☆☆☆☆ Found in Text Mining only
Ichthyosiform Erythroderma, Congenital	Ichthyosis Congenita	BEFREE	20222929, 23954555		★☆☆☆☆ Found in Text Mining only
Idiopathic pulmonary arterial hypertension	Pulmonary arterial hypertension	BEFREE	30770717		★☆☆☆☆ Found in Text Mining only
Idiopathic Pulmonary Fibrosis	Pulmonary Fibrosis	BEFREE	28467787, 29053339, 29115860, 29125826, 30220340, 30457362		★☆☆☆☆ Found in Text Mining only
Idiopathic Pulmonary Fibrosis	Idiopathic pulmonary fibrosis	Pubtator	28467787	Stimulate	★☆☆☆☆ Found in Text Mining only
Idiopathic Pulmonary Fibrosis	Idiopathic pulmonary fibrosis	Pubtator	29125826	Inhibit	★☆☆☆☆ Found in Text Mining only
Idiopathic Pulmonary Fibrosis	Idiopathic pulmonary fibrosis	Pubtator	37798725	Associate	★☆☆☆☆ Found in Text Mining only
Idiopathic pulmonary hypertension	Pulmonary Hypertension	BEFREE	30770717		★☆☆☆☆ Found in Text Mining only
Immunologic Deficiency Syndromes	Immunologic Deficiency Syndromes	BEFREE	23750284		★☆☆☆☆ Found in Text Mining only
Inflammatory abnormality of the eye	Inflammatory abnormality of the eye	BEFREE	23413043		★☆☆☆☆ Found in Text Mining only
Insulin Resistance	Diabetes mellitus, type 2	Pubtator	26672043, 35806251	Associate	★☆☆☆☆ Found in Text Mining only
Intracranial Aneurysm	Intracranial Aneurysm	BEFREE	12750963, 15273433, 17287949, 24065528, 28792146		★☆☆☆☆ Found in Text Mining only
Intracranial Aneurysm	Intracranial aneurysm	Pubtator	28792146, 34393991	Associate	★☆☆☆☆ Found in Text Mining only
Invasive Ductal Breast Carcinoma	Invasive Duct and Lobular Carcinoma	BEFREE	17685448, 9033266		★☆☆☆☆ Found in Text Mining only
Ischemic stroke	Ischemic Stroke	BEFREE	22722997		★☆☆☆☆ Found in Text Mining only
Ischemic stroke	Ischemic Stroke	HPO_DG			★☆☆☆☆ Found in Text Mining only
Kearns-Sayre syndrome	Kearns Sayre Syndrome	BEFREE	19661442		★☆☆☆☆ Found in Text Mining only
Keratoconus	Keratoconus	Pubtator	21976959, 25593510, 25735481, 32246022, 33596621	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Keratoconus	Keratoconus	BEFREE	22661479, 23387289, 24502826, 24644548, 25593510, 25675348, 25735481, 26713757, 29215396, 31614631		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Keratoconus	Keratoconus	Pubtator	32246022	Inhibit	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Kidney Diseases	Kidney disease	Pubtator	35792886	Associate	★☆☆☆☆ Found in Text Mining only
Leiomyoma	Leiomyoma	Pubtator	29082249	Associate	★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	BEFREE	31096118		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	23560895, 26048020, 27430160, 29211299, 29620290, 29799025, 30720077, 30919528		★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis	Liver Cirrhosis	CTD_human_DG	26396155		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung Diseases	Lung disease	Pubtator	27367711	Associate	★☆☆☆☆ Found in Text Mining only
Lung diseases	Lung Diseases	BEFREE	28273952		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung Neoplasms	BEFREE	15386437, 27694892, 28284717		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	27367711	Associate	★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	19816945, 22994786, 23545606, 23886154, 25060181, 25337249, 31057297	Associate	★☆☆☆☆ Found in Text Mining only
Malignant Head and Neck Neoplasm	Head and neck cancer	BEFREE	20654727		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	12154058, 17471532, 17685448, 18765548, 19029090, 19654310, 20498644, 20929399, 21233336, 21911388, 22231744, 22434522, 22921864, 22994786, 23033492, 23856251, 24167568, 24882580, 25141126, 26265048, 27029493, 27860390, 29434955, 29579155, 30181809, 30890638, 31093946		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of esophagus	Esophagus Neoplasm	BEFREE	31599475		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of larynx	Larynx cancer	BEFREE	28116994		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of liver	Liver Cancer	BEFREE	23560895		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	15792754, 20956321, 21690299, 22438909, 27367711		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	22533780, 22906264, 23970168, 25174950, 28495238		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	29959362		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	16182442, 24882580, 26804196, 29732010, 9515817		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	15374948, 20021617, 21995629, 26100130, 29343955, 30045039, 31057297		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of thyroid	Thyroid cancer	BEFREE	25488748, 26818109, 27029493, 30398411		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of urinary bladder	Urinary bladder cancer	BEFREE	17456585		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	12154058, 17027136, 17028596, 17471532, 20498644, 20956321, 21107914, 21318022, 22434522, 23033492, 23140307, 23750284, 23758270, 24882580, 25052686, 25112403, 25141126, 25790191, 26048020, 26265048, 26732355, 27029493, 27367711, 28036074, 28110559, 28425924, 28660757, 28901438, 29309816, 29343955, 29579155, 29729273, 29732010, 30098867, 30398411, 30720077, 30890638, 31070916, 31678002		★☆☆☆☆ Found in Text Mining only
Malignant tumor of cervix	Cervical Tumor	BEFREE	24945327		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	11807790, 20654727, 27367711, 28947950		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	LHGDN	16357151, 19029090		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	BEFREE	19111879, 22434522, 26017313, 9484712		★☆☆☆☆ Found in Text Mining only
Marfan Syndrome	Marfan Syndrome	BEFREE	7508709		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
melanoma	Melanoma	BEFREE	10589771, 15305153, 15386437, 17308048, 18627528, 22719872, 29755969, 30098867		★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	10594755, 20587415, 2172980, 22719872, 38247872, 8910291, 9065413, 9247085	Associate	★☆☆☆☆ Found in Text Mining only
Menkes Kinky Hair Syndrome	Menkes Kinky Hair Syndrome	BEFREE	26347346, 8638917, 8980283		★☆☆☆☆ Found in Text Mining only
Muscular Dystrophy Duchenne	Duchenne muscular dystrophy	Pubtator	34922439	Associate	★☆☆☆☆ Found in Text Mining only
Myelofibrosis	Myelofibrosis	BEFREE	23494965		★☆☆☆☆ Found in Text Mining only
Myeloproliferative disease	Myeloproliferative disorder	BEFREE	23494965		★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial Infarction	BEFREE	28761986, 28883544		★☆☆☆☆ Found in Text Mining only
Myocardial Ischemia	Myocardial ischemia	Pubtator	35792886	Associate	★☆☆☆☆ Found in Text Mining only
Myopia	Myopia	BEFREE	29135319		★☆☆☆☆ Found in Text Mining only
Nasopharyngeal Carcinoma	Nasopharyngeal carcinoma	Pubtator	26882568	Associate	★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	11720477, 11807790, 12154058, 12820424, 1357535, 15305153, 15374948, 15792754, 17018618, 17456585, 17471532, 19029090, 19488830, 19526206, 19654310, 19724858, 19816945, 19885562, 20420713, 21282564, 21306648, 21318022, 22204712, 22237009, 22434522, 22438909, 22453058, 22719872, 22994786, 23545606, 23750284, 23856251, 23886154, 23886186, 23970168, 24008360, 24045659, 24945327, 25052686, 25141126, 25790191, 26100130, 26298204, 26804196, 27430160, 27742687, 28036074, 28416796, 28495238, 28994107, 29209148, 29247885, 29732010, 29755969, 30045039, 30398411, 30701028, 30720077, 30786814, 30862717, 31057297, 31130685, 31430136, 31599475, 31678002, 31777578, 9033266, 9367056, 9484712, 9515817		★☆☆☆☆ Found in Text Mining only
Nephrotic Syndrome	Nephrotic Syndrome	BEFREE	16086153		★☆☆☆☆ Found in Text Mining only
Neurodegenerative Disorders	Neurodegenerative Disorders	BEFREE	21559813		★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	22948781, 23140307, 23886154, 25337249, 29472856, 31597217		★☆☆☆☆ Found in Text Mining only
Noninfiltrating Intraductal Carcinoma	Ductal carcinoma	BEFREE	17685448, 18928525		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	26780438, 29051043, 31615160		★☆☆☆☆ Found in Text Mining only
Oestrogen receptor positive breast cancer	Oestrogen Receptor Positive Breast Cancer	BEFREE	27147578		★☆☆☆☆ Found in Text Mining only
Oral Submucous Fibrosis	Oral Submucous Fibrosis	CTD_human_DG	16311067		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Oral Submucous Fibrosis	Oral Submucous Fibrosis	BEFREE	18764858		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Oral Submucous Fibrosis	Oral submucous fibrosis	Pubtator	34452563	Stimulate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Oral Submucous Fibrosis	Oral submucous fibrosis	Pubtator	34452563	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteogenesis Imperfecta	Osteogenesis Imperfecta	BEFREE	1448		★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	BEFREE	15584868		★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	BEFREE	22911823, 23886186, 23970168, 8983023		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteosarcoma	Osteosarcoma	Pubtator	22911823, 23886186	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteosarcoma	Osteosarcoma	CTD_human_DG	23886186		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ovarian neoplasm	Ovarian neoplasm	BEFREE	22533780, 22906264, 23970168, 25174950, 28495238		★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	22906264, 27028324, 30583585	Associate	★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	29959362		★☆☆☆☆ Found in Text Mining only
Pancreatic Ductal Adenocarcinoma	Pancreatic adenocarcinoma	BEFREE	27050073		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasm	Pancreatic Neoplasm	LHGDN	17616686		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	12163367, 30712446, 37588985	Associate	★☆☆☆☆ Found in Text Mining only
Papillary thyroid carcinoma	Papillary thyroid carcinoma	BEFREE	26818109		★☆☆☆☆ Found in Text Mining only
Patent ductus arteriosus	Patent ductus arteriosus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Pelvic Organ Prolapse	Pelvic Organ Prolapse	BEFREE	20146053		★☆☆☆☆ Found in Text Mining only
Peripheral arterial stenosis	Peripheral arterial stenosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Peritoneal Fibrosis	Peritoneal Fibrosis	BEFREE	28800626		★☆☆☆☆ Found in Text Mining only
Peritonitis	Peritonitis	Pubtator	25060181	Associate	★☆☆☆☆ Found in Text Mining only
Peyronie Disease	Peyronie Disease	BEFREE	29278308, 29502979		★☆☆☆☆ Found in Text Mining only
PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS	Pigmentary Disorder, Reticulate, With Systemic Manifestations	BEFREE	18566459, 22966818		★☆☆☆☆ Found in Text Mining only
Polycystic Kidney Diseases	Polycystic kidney disease	Pubtator	38002926	Associate	★☆☆☆☆ Found in Text Mining only
Polycystic Kidney, Autosomal Dominant	Polycystic kidney disease	BEFREE	24343898		★☆☆☆☆ Found in Text Mining only
Polycystic Ovary Syndrome	Polycystic Ovary Syndrome	BEFREE	19583806, 30272163		★☆☆☆☆ Found in Text Mining only
Polycystic Ovary Syndrome	Polycystic ovary syndrome	Pubtator	19583806	Associate	★☆☆☆☆ Found in Text Mining only
Primary angle-closure glaucoma	Angle closure glaucoma	BEFREE	31725165		★☆☆☆☆ Found in Text Mining only
Primary biliary cirrhosis	Biliary Cirrhosis	BEFREE	16023247		★☆☆☆☆ Found in Text Mining only
Primary biliary cirrhosis	Biliary Cirrhosis	CTD_human_DG	16023247		★☆☆☆☆ Found in Text Mining only
Primary Myelofibrosis	Myelofibrosis	BEFREE	23494965, 31637674		★☆☆☆☆ Found in Text Mining only
Proliferative diabetic retinopathy	Proliferative Diabetic Retinopathy	BEFREE	18566459		★☆☆☆☆ Found in Text Mining only
Proliferative vitreoretinopathy	Proliferative Vitreoretinopathy	BEFREE	23413043		★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	11212240, 16182442, 19661680, 24882580, 26804196, 28143503, 29732010, 9515817		★☆☆☆☆ Found in Text Mining only
Prostatic Diseases	Prostatic Diseases	BEFREE	28143503		★☆☆☆☆ Found in Text Mining only
Prostatic Diseases	Prostatic disease	Pubtator	28143503	Associate	★☆☆☆☆ Found in Text Mining only
Prostatic Hyperplasia	Prostatic Hyperplasia	BEFREE	28143503		★☆☆☆☆ Found in Text Mining only
Prostatic Hyperplasia	Prostatic hyperplasia	Pubtator	28143503	Associate	★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic Neoplasms	LHGDN	19020742		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	19597471	Inhibit	★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	22895552, 26567111, 28510269	Associate	★☆☆☆☆ Found in Text Mining only
Pseudoxanthoma Elasticum	Pseudoxanthoma elasticum	BEFREE	7508709		★☆☆☆☆ Found in Text Mining only
Pterygium	Pterygium	BEFREE	25183766		★☆☆☆☆ Found in Text Mining only
Ptosis	Ptosis	BEFREE	20146053		★☆☆☆☆ Found in Text Mining only
Pulmonary Emphysema	Pulmonary Emphysema	BEFREE	21318022, 28965583, 30220340		★☆☆☆☆ Found in Text Mining only
Pulmonary Fibrosis	Pulmonary Fibrosis	BEFREE	20418892, 28273952, 28467787, 28677767, 29125826, 29467842, 30457362, 9484712		★☆☆☆☆ Found in Text Mining only
Pulmonary Fibrosis	Pulmonary fibrosis	Pubtator	20418892	Associate	★☆☆☆☆ Found in Text Mining only
Rectal Carcinoma	Rectal Carcinoma	BEFREE	27367711, 28947950		★☆☆☆☆ Found in Text Mining only
Refractory anemias	Anemia	BEFREE	27837860		★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	BEFREE	11720477, 30816490		★☆☆☆☆ Found in Text Mining only
Renal fibrosis	Renal fibrosis	BEFREE	16086153, 29732010		★☆☆☆☆ Found in Text Mining only
Retinoblastoma	Retinoblastoma	BEFREE	28689747		★☆☆☆☆ Found in Text Mining only
Rhegmatogenous retinal detachment	Rhegmatogenous retinal detachment	BEFREE	18566459, 23413043		★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	27837860, 28901438, 29468959, 8750209		★☆☆☆☆ Found in Text Mining only
Rhinitis Allergic	Rhinitis	Pubtator	38009683	Associate	★☆☆☆☆ Found in Text Mining only
Sarcoma	Sarcoma	BEFREE	21282564		★☆☆☆☆ Found in Text Mining only
Sarcoma	Sarcoma	Pubtator	26055407, 37874682	Associate	★☆☆☆☆ Found in Text Mining only
Scleroderma	Scleroderma	BEFREE	21352343		★☆☆☆☆ Found in Text Mining only
Scoliosis	Scoliosis	Pubtator	21740577	Associate	★☆☆☆☆ Found in Text Mining only
Scoliosis, unspecified	Scoliosis	BEFREE	21740577		★☆☆☆☆ Found in Text Mining only
Scoliosis, unspecified	Scoliosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Secondary Biliary Cholangitis	Biliary Cholangitis	CTD_human_DG	16023247		★☆☆☆☆ Found in Text Mining only
Senile Plaques	Senile Plaques	BEFREE	15721223		★☆☆☆☆ Found in Text Mining only
Skin Neoplasms	Skin Neoplasms	BEFREE	15305153		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	BEFREE	12894545, 28284717, 29472856, 31140650		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	LHGDN	16533769		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of esophagus	Esophagus Neoplasm	BEFREE	19526206, 22204712, 31599475		★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	19816945, 34930321	Associate	★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of oropharynx	Oropharyngeal carcinoma	BEFREE	19816945		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of the head and neck	Carcinoma Of The Head And Neck	BEFREE	26756583, 31721164		★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	21995629, 26100130, 29343955, 30045039, 31057297		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach Neoplasms	LHGDN	15374948		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	25060181, 29343955, 30226558, 31848941, 39251966	Associate	★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	31057297	Stimulate	★☆☆☆☆ Found in Text Mining only
Subarachnoid Hemorrhage	Subarachnoid hemorrhage	HPO_DG			★☆☆☆☆ Found in Text Mining only
Systemic Scleroderma	Scleroderma	BEFREE	21352343, 30770717		★☆☆☆☆ Found in Text Mining only
Thoracic Diseases	Thoracic disease	Pubtator	26838787	Associate	★☆☆☆☆ Found in Text Mining only
Thyroid Cancer Papillary	Papillary thyroid cancer	Pubtator	26818109	Stimulate	★☆☆☆☆ Found in Text Mining only
Thyroid Cancer Papillary	Papillary thyroid cancer	Pubtator	36120433	Associate	★☆☆☆☆ Found in Text Mining only
Thyroid carcinoma	Thyroid Carcinoma	BEFREE	25488748, 26818109, 27029493, 30398411		★☆☆☆☆ Found in Text Mining only
Thyroid Carcinoma Anaplastic	Thyroid cancer	Pubtator	25153510, 26818109, 35971932	Associate	★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasm	Thyroid Neoplasm	BEFREE	25488748, 26818109, 27029493, 30398411		★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasms	Thyroid cancer	Pubtator	26818109	Stimulate	★☆☆☆☆ Found in Text Mining only
Transient Ischemic Attack	Transient Ischemic Attack	HPO_DG			★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple negative breast cancer	Pubtator	21892208	Associate	★☆☆☆☆ Found in Text Mining only
Ureteral Obstruction	Urethral obstruction	Pubtator	35792886	Stimulate	★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	31205475	Associate	★☆☆☆☆ Found in Text Mining only
Vascular Diseases	Vascular disease	Pubtator	22134099	Associate	★☆☆☆☆ Found in Text Mining only
Ventricular Dysfunction Left	Ventricular dysfunction	Pubtator	21329845, 28091585	Associate	★☆☆☆☆ Found in Text Mining only