Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	10133
Gene name	Optineurin
Gene symbol	OPTN
Synonyms (NCBI Gene)	ALS12FIP2GLC1EHIP7HYPLNRPTFIIIA-INTP
Chromosome	10
Chromosome location	10p13
Summary	This gene encodes the coiled-coil containing protein optineurin. Optineurin may play a role in normal-tension glaucoma and adult-onset primary open angle glaucoma. Optineurin interacts with adenovirus E3-14.7K protein and may utilize tumor necrosis factor

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SNP ID	Visualize variation	Clinical significance	Consequence
rs11258194	T>A	Pathogenic, benign-likely-benign, risk-factor, benign	Missense variant, coding sequence variant
rs28939688	G>A	Pathogenic	Missense variant, coding sequence variant
rs75654767	G>A	Pathogenic, benign, likely-benign, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs140599944	G>A,T	Uncertain-significance, likely-pathogenic	Stop gained, missense variant, coding sequence variant
rs142812715	A>T	Pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs267606928	C>G,T	Pathogenic	Coding sequence variant, stop gained, missense variant
rs267606929	A>G	Pathogenic	Coding sequence variant, missense variant
rs747481280	T>G	Likely-pathogenic	Coding sequence variant, missense variant
rs774258585	->AG	Pathogenic	Coding sequence variant, frameshift variant
rs786205611	GACAT>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs867368757	A>G	Likely-pathogenic	Splice acceptor variant
rs895824243	A>C	Likely-pathogenic	Missense variant, coding sequence variant
rs934287314	C>T	Likely-pathogenic, uncertain-significance	Coding sequence variant, stop gained
rs1564354968	->AGCT	Pathogenic	Frameshift variant, coding sequence variant
rs1588449569	->A	Likely-pathogenic	Frameshift variant, coding sequence variant

403

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miRTarBase ID	miRNA	Experiments	Reference
MIRT019128	hsa-miR-335-5p	Microarray	18185580
MIRT021455	hsa-miR-9-5p	Microarray	17612493
MIRT050845	hsa-miR-17-5p	CLASH	23622248
MIRT050771	hsa-miR-17-3p	CLASH	23622248
MIRT049818	hsa-miR-92a-3p	CLASH	23622248
MIRT625704	hsa-miR-500b-3p	HITS-CLIP	23824327
MIRT625703	hsa-miR-2276-5p	HITS-CLIP	23824327
MIRT625702	hsa-miR-6741-3p	HITS-CLIP	23824327
MIRT625701	hsa-miR-1307-3p	HITS-CLIP	23824327
MIRT625700	hsa-miR-4638-5p	HITS-CLIP	23824327
MIRT625699	hsa-miR-6773-3p	HITS-CLIP	23824327
MIRT625698	hsa-miR-215-3p	HITS-CLIP	23824327
MIRT625697	hsa-miR-6499-3p	HITS-CLIP	23824327
MIRT625696	hsa-miR-3135b	HITS-CLIP	23824327
MIRT625695	hsa-miR-504-3p	HITS-CLIP	23824327
MIRT625694	hsa-miR-122-5p	HITS-CLIP	23824327
MIRT625693	hsa-miR-3652	HITS-CLIP	23824327
MIRT625692	hsa-miR-4430	HITS-CLIP	23824327
MIRT625691	hsa-miR-6879-3p	HITS-CLIP	23824327
MIRT625690	hsa-miR-143-5p	HITS-CLIP	23824327
MIRT625689	hsa-miR-5698	HITS-CLIP	23824327
MIRT639301	hsa-miR-6734-3p	HITS-CLIP	23824327
MIRT639300	hsa-miR-3667-3p	HITS-CLIP	23824327
MIRT639299	hsa-miR-1237-3p	HITS-CLIP	23824327
MIRT639298	hsa-miR-1248	HITS-CLIP	23824327
MIRT639297	hsa-miR-6868-3p	HITS-CLIP	23824327
MIRT639296	hsa-miR-4279	HITS-CLIP	23824327
MIRT625704	hsa-miR-500b-3p	HITS-CLIP	23824327
MIRT625703	hsa-miR-2276-5p	HITS-CLIP	23824327
MIRT625701	hsa-miR-1307-3p	HITS-CLIP	23824327
MIRT625700	hsa-miR-4638-5p	HITS-CLIP	23824327
MIRT625699	hsa-miR-6773-3p	HITS-CLIP	23824327
MIRT625698	hsa-miR-215-3p	HITS-CLIP	23824327
MIRT625697	hsa-miR-6499-3p	HITS-CLIP	23824327
MIRT625696	hsa-miR-3135b	HITS-CLIP	23824327
MIRT625695	hsa-miR-504-3p	HITS-CLIP	23824327
MIRT625694	hsa-miR-122-5p	HITS-CLIP	23824327
MIRT625693	hsa-miR-3652	HITS-CLIP	23824327
MIRT625692	hsa-miR-4430	HITS-CLIP	23824327
MIRT625691	hsa-miR-6879-3p	HITS-CLIP	23824327
MIRT625690	hsa-miR-143-5p	HITS-CLIP	23824327
MIRT625689	hsa-miR-5698	HITS-CLIP	23824327
MIRT625704	hsa-miR-500b-3p	HITS-CLIP	23824327
MIRT625703	hsa-miR-2276-5p	HITS-CLIP	23824327
MIRT625702	hsa-miR-6741-3p	HITS-CLIP	23824327
MIRT625701	hsa-miR-1307-3p	HITS-CLIP	23824327
MIRT625700	hsa-miR-4638-5p	HITS-CLIP	23824327
MIRT625699	hsa-miR-6773-3p	HITS-CLIP	23824327
MIRT625698	hsa-miR-215-3p	HITS-CLIP	23824327
MIRT625697	hsa-miR-6499-3p	HITS-CLIP	23824327
MIRT625696	hsa-miR-3135b	HITS-CLIP	23824327
MIRT625695	hsa-miR-504-3p	HITS-CLIP	23824327
MIRT625694	hsa-miR-122-5p	HITS-CLIP	23824327
MIRT625693	hsa-miR-3652	HITS-CLIP	23824327
MIRT625692	hsa-miR-4430	HITS-CLIP	23824327
MIRT625691	hsa-miR-6879-3p	HITS-CLIP	23824327
MIRT625690	hsa-miR-143-5p	HITS-CLIP	23824327
MIRT625689	hsa-miR-5698	HITS-CLIP	23824327
MIRT625704	hsa-miR-500b-3p	HITS-CLIP	23824327
MIRT625703	hsa-miR-2276-5p	HITS-CLIP	23824327
MIRT625702	hsa-miR-6741-3p	HITS-CLIP	23824327
MIRT625701	hsa-miR-1307-3p	HITS-CLIP	23824327
MIRT625700	hsa-miR-4638-5p	HITS-CLIP	23824327
MIRT625699	hsa-miR-6773-3p	HITS-CLIP	23824327
MIRT625698	hsa-miR-215-3p	HITS-CLIP	23824327
MIRT625697	hsa-miR-6499-3p	HITS-CLIP	23824327
MIRT625696	hsa-miR-3135b	HITS-CLIP	23824327
MIRT625695	hsa-miR-504-3p	HITS-CLIP	23824327
MIRT625694	hsa-miR-122-5p	HITS-CLIP	23824327
MIRT625693	hsa-miR-3652	HITS-CLIP	23824327
MIRT625692	hsa-miR-4430	HITS-CLIP	23824327
MIRT625691	hsa-miR-6879-3p	HITS-CLIP	23824327
MIRT625690	hsa-miR-143-5p	HITS-CLIP	23824327
MIRT625689	hsa-miR-5698	HITS-CLIP	23824327
MIRT639301	hsa-miR-6734-3p	HITS-CLIP	23824327
MIRT639300	hsa-miR-3667-3p	HITS-CLIP	23824327
MIRT639299	hsa-miR-1237-3p	HITS-CLIP	23824327
MIRT639298	hsa-miR-1248	HITS-CLIP	23824327
MIRT639297	hsa-miR-6868-3p	HITS-CLIP	23824327
MIRT639296	hsa-miR-4279	HITS-CLIP	23824327
MIRT625704	hsa-miR-500b-3p	HITS-CLIP	23824327
MIRT625703	hsa-miR-2276-5p	HITS-CLIP	23824327
MIRT625701	hsa-miR-1307-3p	HITS-CLIP	23824327
MIRT625700	hsa-miR-4638-5p	HITS-CLIP	23824327
MIRT625699	hsa-miR-6773-3p	HITS-CLIP	23824327
MIRT625698	hsa-miR-215-3p	HITS-CLIP	23824327
MIRT625697	hsa-miR-6499-3p	HITS-CLIP	23824327
MIRT625696	hsa-miR-3135b	HITS-CLIP	23824327
MIRT625695	hsa-miR-504-3p	HITS-CLIP	23824327
MIRT625694	hsa-miR-122-5p	HITS-CLIP	23824327
MIRT625693	hsa-miR-3652	HITS-CLIP	23824327
MIRT625692	hsa-miR-4430	HITS-CLIP	23824327
MIRT625691	hsa-miR-6879-3p	HITS-CLIP	23824327
MIRT625690	hsa-miR-143-5p	HITS-CLIP	23824327
MIRT625689	hsa-miR-5698	HITS-CLIP	23824327
MIRT625704	hsa-miR-500b-3p	HITS-CLIP	23824327
MIRT625703	hsa-miR-2276-5p	HITS-CLIP	23824327
MIRT625702	hsa-miR-6741-3p	HITS-CLIP	23824327
MIRT625701	hsa-miR-1307-3p	HITS-CLIP	23824327
MIRT625700	hsa-miR-4638-5p	HITS-CLIP	23824327
MIRT625699	hsa-miR-6773-3p	HITS-CLIP	23824327
MIRT625698	hsa-miR-215-3p	HITS-CLIP	23824327
MIRT625697	hsa-miR-6499-3p	HITS-CLIP	23824327
MIRT625696	hsa-miR-3135b	HITS-CLIP	23824327
MIRT625695	hsa-miR-504-3p	HITS-CLIP	23824327
MIRT625694	hsa-miR-122-5p	HITS-CLIP	23824327
MIRT625693	hsa-miR-3652	HITS-CLIP	23824327
MIRT625692	hsa-miR-4430	HITS-CLIP	23824327
MIRT625691	hsa-miR-6879-3p	HITS-CLIP	23824327
MIRT625690	hsa-miR-143-5p	HITS-CLIP	23824327
MIRT625689	hsa-miR-5698	HITS-CLIP	23824327
MIRT1204539	hsa-miR-1257	CLIP-seq
MIRT1204540	hsa-miR-1294	CLIP-seq
MIRT1204541	hsa-miR-186	CLIP-seq
MIRT1204542	hsa-miR-3133	CLIP-seq
MIRT1204543	hsa-miR-4506	CLIP-seq
MIRT1204544	hsa-miR-4659a-3p	CLIP-seq
MIRT1204545	hsa-miR-4659b-3p	CLIP-seq
MIRT1204546	hsa-miR-4735-5p	CLIP-seq
MIRT1204547	hsa-miR-4790-3p	CLIP-seq
MIRT1204548	hsa-miR-555	CLIP-seq
MIRT1204549	hsa-miR-1183	CLIP-seq
MIRT1204550	hsa-miR-1224-3p	CLIP-seq
MIRT1204551	hsa-miR-1234	CLIP-seq
MIRT1204552	hsa-miR-1245	CLIP-seq
MIRT1204553	hsa-miR-3185	CLIP-seq
MIRT1204554	hsa-miR-3646	CLIP-seq
MIRT1204555	hsa-miR-4252	CLIP-seq
MIRT1204556	hsa-miR-4438	CLIP-seq
MIRT1204557	hsa-miR-4786-3p	CLIP-seq
MIRT1204558	hsa-miR-5095	CLIP-seq
MIRT1204559	hsa-miR-640	CLIP-seq
MIRT1204560	hsa-miR-944	CLIP-seq
MIRT1551951	hsa-miR-1301	CLIP-seq
MIRT1551952	hsa-miR-148a	CLIP-seq
MIRT1551953	hsa-miR-148b	CLIP-seq
MIRT1551954	hsa-miR-152	CLIP-seq
MIRT1551955	hsa-miR-3944-5p	CLIP-seq
MIRT1551956	hsa-miR-4519	CLIP-seq
MIRT1551957	hsa-miR-4660	CLIP-seq
MIRT1551958	hsa-miR-5047	CLIP-seq
MIRT1922891	hsa-miR-122	CLIP-seq
MIRT1922892	hsa-miR-1307	CLIP-seq
MIRT1922891	hsa-miR-122	CLIP-seq
MIRT1204551	hsa-miR-1234	CLIP-seq
MIRT1922892	hsa-miR-1307	CLIP-seq
MIRT2059007	hsa-miR-4284	CLIP-seq
MIRT2059008	hsa-miR-4287	CLIP-seq
MIRT1204556	hsa-miR-4438	CLIP-seq
MIRT2059009	hsa-miR-4469	CLIP-seq
MIRT2059010	hsa-miR-4685-3p	CLIP-seq
MIRT1204546	hsa-miR-4735-5p	CLIP-seq
MIRT2059011	hsa-miR-4797-5p	CLIP-seq
MIRT1204558	hsa-miR-5095	CLIP-seq
MIRT2059012	hsa-miR-642a	CLIP-seq
MIRT1922891	hsa-miR-122	CLIP-seq
MIRT1204551	hsa-miR-1234	CLIP-seq
MIRT2287141	hsa-miR-3613-3p	CLIP-seq
MIRT2287142	hsa-miR-3977	CLIP-seq
MIRT1204555	hsa-miR-4252	CLIP-seq
MIRT2287143	hsa-miR-4318	CLIP-seq
MIRT1204556	hsa-miR-4438	CLIP-seq
MIRT1204544	hsa-miR-4659a-3p	CLIP-seq
MIRT1204545	hsa-miR-4659b-3p	CLIP-seq
MIRT2287144	hsa-miR-4693-5p	CLIP-seq
MIRT2287145	hsa-miR-4731-5p	CLIP-seq
MIRT1204558	hsa-miR-5095	CLIP-seq
MIRT2287146	hsa-miR-512-3p	CLIP-seq
MIRT2287147	hsa-miR-892a	CLIP-seq
MIRT2287148	hsa-miR-942	CLIP-seq
MIRT2391914	hsa-miR-1237	CLIP-seq
MIRT1204544	hsa-miR-4659a-3p	CLIP-seq
MIRT1204545	hsa-miR-4659b-3p	CLIP-seq
MIRT2287148	hsa-miR-942	CLIP-seq
MIRT1922891	hsa-miR-122	CLIP-seq
MIRT2059008	hsa-miR-4287	CLIP-seq
MIRT2059009	hsa-miR-4469	CLIP-seq
MIRT2059010	hsa-miR-4685-3p	CLIP-seq
MIRT2059011	hsa-miR-4797-5p	CLIP-seq
MIRT2059012	hsa-miR-642a	CLIP-seq
MIRT2585311	hsa-miR-106a	CLIP-seq
MIRT2585312	hsa-miR-106b	CLIP-seq
MIRT1922891	hsa-miR-122	CLIP-seq
MIRT1204551	hsa-miR-1234	CLIP-seq
MIRT2585313	hsa-miR-1272	CLIP-seq
MIRT1551951	hsa-miR-1301	CLIP-seq
MIRT1922892	hsa-miR-1307	CLIP-seq
MIRT2585314	hsa-miR-1322	CLIP-seq
MIRT2585315	hsa-miR-1343	CLIP-seq
MIRT1551952	hsa-miR-148a	CLIP-seq
MIRT1551953	hsa-miR-148b	CLIP-seq
MIRT2585316	hsa-miR-150	CLIP-seq
MIRT1551954	hsa-miR-152	CLIP-seq
MIRT2585317	hsa-miR-17	CLIP-seq
MIRT2585318	hsa-miR-1976	CLIP-seq
MIRT2585319	hsa-miR-2054	CLIP-seq
MIRT2585320	hsa-miR-20a	CLIP-seq
MIRT2585321	hsa-miR-20b	CLIP-seq
MIRT2585322	hsa-miR-2110	CLIP-seq
MIRT2585323	hsa-miR-217	CLIP-seq
MIRT2585324	hsa-miR-219-1-3p	CLIP-seq
MIRT2585325	hsa-miR-22	CLIP-seq
MIRT2585326	hsa-miR-302a	CLIP-seq
MIRT2585327	hsa-miR-302b	CLIP-seq
MIRT2585328	hsa-miR-302c	CLIP-seq
MIRT2585329	hsa-miR-302d	CLIP-seq
MIRT2585330	hsa-miR-302e	CLIP-seq
MIRT2585331	hsa-miR-3129-3p	CLIP-seq
MIRT2585332	hsa-miR-3134	CLIP-seq
MIRT2585333	hsa-miR-3145-3p	CLIP-seq
MIRT2585334	hsa-miR-3146	CLIP-seq
MIRT2585335	hsa-miR-3150a-3p	CLIP-seq
MIRT2585336	hsa-miR-3150a-5p	CLIP-seq
MIRT2585337	hsa-miR-3150b-5p	CLIP-seq
MIRT2585338	hsa-miR-3162-3p	CLIP-seq
MIRT2585339	hsa-miR-3175	CLIP-seq
MIRT2585340	hsa-miR-3187-3p	CLIP-seq
MIRT2585341	hsa-miR-3529	CLIP-seq
MIRT2585342	hsa-miR-361-5p	CLIP-seq
MIRT1204554	hsa-miR-3646	CLIP-seq
MIRT2585343	hsa-miR-3663-5p	CLIP-seq
MIRT2585344	hsa-miR-3682-3p	CLIP-seq
MIRT2585345	hsa-miR-3689d	CLIP-seq
MIRT2585346	hsa-miR-371-5p	CLIP-seq
MIRT2585347	hsa-miR-371b-5p	CLIP-seq
MIRT2585348	hsa-miR-372	CLIP-seq
MIRT2585349	hsa-miR-373	CLIP-seq
MIRT2585350	hsa-miR-374c	CLIP-seq
MIRT2585351	hsa-miR-377	CLIP-seq
MIRT2585352	hsa-miR-378g	CLIP-seq
MIRT2585353	hsa-miR-379	CLIP-seq
MIRT2585354	hsa-miR-3925-3p	CLIP-seq
MIRT1551955	hsa-miR-3944-5p	CLIP-seq
MIRT2585355	hsa-miR-410	CLIP-seq
MIRT2585356	hsa-miR-423-3p	CLIP-seq
MIRT1204555	hsa-miR-4252	CLIP-seq
MIRT2585357	hsa-miR-4260	CLIP-seq
MIRT2585358	hsa-miR-4282	CLIP-seq
MIRT2059007	hsa-miR-4284	CLIP-seq
MIRT2585359	hsa-miR-4320	CLIP-seq
MIRT2585360	hsa-miR-4328	CLIP-seq
MIRT2585361	hsa-miR-4435	CLIP-seq
MIRT2585362	hsa-miR-4437	CLIP-seq
MIRT1204556	hsa-miR-4438	CLIP-seq
MIRT2585363	hsa-miR-4451	CLIP-seq
MIRT2585364	hsa-miR-4468	CLIP-seq
MIRT2585365	hsa-miR-450a	CLIP-seq
MIRT1551956	hsa-miR-4519	CLIP-seq
MIRT2585366	hsa-miR-4534	CLIP-seq
MIRT2585367	hsa-miR-4650-3p	CLIP-seq
MIRT1551957	hsa-miR-4660	CLIP-seq
MIRT2585368	hsa-miR-4674	CLIP-seq
MIRT2585369	hsa-miR-4686	CLIP-seq
MIRT2585370	hsa-miR-4701-5p	CLIP-seq
MIRT2585371	hsa-miR-4709-5p	CLIP-seq
MIRT2585372	hsa-miR-4712-5p	CLIP-seq
MIRT2585373	hsa-miR-4714-3p	CLIP-seq
MIRT2585374	hsa-miR-4716-5p	CLIP-seq
MIRT2585375	hsa-miR-4717-3p	CLIP-seq
MIRT2585376	hsa-miR-4722-3p	CLIP-seq
MIRT2287145	hsa-miR-4731-5p	CLIP-seq
MIRT2585377	hsa-miR-4732-3p	CLIP-seq
MIRT1204546	hsa-miR-4735-5p	CLIP-seq
MIRT2585378	hsa-miR-4737	CLIP-seq
MIRT2585379	hsa-miR-4755-3p	CLIP-seq
MIRT2585380	hsa-miR-4772-3p	CLIP-seq
MIRT2585381	hsa-miR-4775	CLIP-seq
MIRT2585382	hsa-miR-4781-3p	CLIP-seq
MIRT1204557	hsa-miR-4786-3p	CLIP-seq
MIRT2585383	hsa-miR-4787-3p	CLIP-seq
MIRT2585384	hsa-miR-4795-3p	CLIP-seq
MIRT2585385	hsa-miR-4803	CLIP-seq
MIRT2585386	hsa-miR-498	CLIP-seq
MIRT2585387	hsa-miR-499-3p	CLIP-seq
MIRT2585388	hsa-miR-499a-3p	CLIP-seq
MIRT1551958	hsa-miR-5047	CLIP-seq
MIRT1204558	hsa-miR-5095	CLIP-seq
MIRT2287146	hsa-miR-512-3p	CLIP-seq
MIRT2585389	hsa-miR-519d	CLIP-seq
MIRT2585390	hsa-miR-520a-3p	CLIP-seq
MIRT2585391	hsa-miR-520b	CLIP-seq
MIRT2585392	hsa-miR-520c-3p	CLIP-seq
MIRT2585393	hsa-miR-520d-3p	CLIP-seq
MIRT2585394	hsa-miR-520d-5p	CLIP-seq
MIRT2585395	hsa-miR-520e	CLIP-seq
MIRT2585396	hsa-miR-520g	CLIP-seq
MIRT2585397	hsa-miR-520h	CLIP-seq
MIRT2585398	hsa-miR-524-5p	CLIP-seq
MIRT2585399	hsa-miR-548s	CLIP-seq
MIRT2585400	hsa-miR-556-5p	CLIP-seq
MIRT2585401	hsa-miR-588	CLIP-seq
MIRT2585402	hsa-miR-590-3p	CLIP-seq
MIRT2585403	hsa-miR-605	CLIP-seq
MIRT2585404	hsa-miR-621	CLIP-seq
MIRT2585405	hsa-miR-655	CLIP-seq
MIRT2585406	hsa-miR-718	CLIP-seq
MIRT2585407	hsa-miR-767-3p	CLIP-seq
MIRT2585408	hsa-miR-770-5p	CLIP-seq
MIRT2585409	hsa-miR-891b	CLIP-seq
MIRT2585410	hsa-miR-93	CLIP-seq
MIRT2585411	hsa-miR-939	CLIP-seq
MIRT1204560	hsa-miR-944	CLIP-seq
MIRT2585311	hsa-miR-106a	CLIP-seq
MIRT2585312	hsa-miR-106b	CLIP-seq
MIRT1922891	hsa-miR-122	CLIP-seq
MIRT1551951	hsa-miR-1301	CLIP-seq
MIRT1922892	hsa-miR-1307	CLIP-seq
MIRT2585315	hsa-miR-1343	CLIP-seq
MIRT1551952	hsa-miR-148a	CLIP-seq
MIRT1551953	hsa-miR-148b	CLIP-seq
MIRT2585316	hsa-miR-150	CLIP-seq
MIRT1551954	hsa-miR-152	CLIP-seq
MIRT2585317	hsa-miR-17	CLIP-seq
MIRT2585318	hsa-miR-1976	CLIP-seq
MIRT2585319	hsa-miR-2054	CLIP-seq
MIRT2585320	hsa-miR-20a	CLIP-seq
MIRT2585321	hsa-miR-20b	CLIP-seq
MIRT2585322	hsa-miR-2110	CLIP-seq
MIRT2585323	hsa-miR-217	CLIP-seq
MIRT2585325	hsa-miR-22	CLIP-seq
MIRT2585326	hsa-miR-302a	CLIP-seq
MIRT2585327	hsa-miR-302b	CLIP-seq
MIRT2585328	hsa-miR-302c	CLIP-seq
MIRT2585329	hsa-miR-302d	CLIP-seq
MIRT2585330	hsa-miR-302e	CLIP-seq
MIRT2585331	hsa-miR-3129-3p	CLIP-seq
MIRT2585334	hsa-miR-3146	CLIP-seq
MIRT2585335	hsa-miR-3150a-3p	CLIP-seq
MIRT2585336	hsa-miR-3150a-5p	CLIP-seq
MIRT2585337	hsa-miR-3150b-5p	CLIP-seq
MIRT2585339	hsa-miR-3175	CLIP-seq
MIRT2585340	hsa-miR-3187-3p	CLIP-seq
MIRT2585341	hsa-miR-3529	CLIP-seq
MIRT2585342	hsa-miR-361-5p	CLIP-seq
MIRT1204554	hsa-miR-3646	CLIP-seq
MIRT2585345	hsa-miR-3689d	CLIP-seq
MIRT2585348	hsa-miR-372	CLIP-seq
MIRT2585349	hsa-miR-373	CLIP-seq
MIRT2585350	hsa-miR-374c	CLIP-seq
MIRT2585351	hsa-miR-377	CLIP-seq
MIRT2585352	hsa-miR-378g	CLIP-seq
MIRT2585353	hsa-miR-379	CLIP-seq
MIRT2585354	hsa-miR-3925-3p	CLIP-seq
MIRT1551955	hsa-miR-3944-5p	CLIP-seq
MIRT2585356	hsa-miR-423-3p	CLIP-seq
MIRT1204555	hsa-miR-4252	CLIP-seq
MIRT2585357	hsa-miR-4260	CLIP-seq
MIRT2585358	hsa-miR-4282	CLIP-seq
MIRT2059007	hsa-miR-4284	CLIP-seq
MIRT2585359	hsa-miR-4320	CLIP-seq
MIRT2585360	hsa-miR-4328	CLIP-seq
MIRT2585361	hsa-miR-4435	CLIP-seq
MIRT2585362	hsa-miR-4437	CLIP-seq
MIRT1204556	hsa-miR-4438	CLIP-seq
MIRT2585363	hsa-miR-4451	CLIP-seq
MIRT2585364	hsa-miR-4468	CLIP-seq
MIRT1551956	hsa-miR-4519	CLIP-seq
MIRT2585367	hsa-miR-4650-3p	CLIP-seq
MIRT1551957	hsa-miR-4660	CLIP-seq
MIRT2585368	hsa-miR-4674	CLIP-seq
MIRT2585369	hsa-miR-4686	CLIP-seq
MIRT2585370	hsa-miR-4701-5p	CLIP-seq
MIRT2585371	hsa-miR-4709-5p	CLIP-seq
MIRT2585372	hsa-miR-4712-5p	CLIP-seq
MIRT2585373	hsa-miR-4714-3p	CLIP-seq
MIRT2585374	hsa-miR-4716-5p	CLIP-seq
MIRT2585375	hsa-miR-4717-3p	CLIP-seq
MIRT2585376	hsa-miR-4722-3p	CLIP-seq
MIRT2287145	hsa-miR-4731-5p	CLIP-seq
MIRT1204546	hsa-miR-4735-5p	CLIP-seq
MIRT2585380	hsa-miR-4772-3p	CLIP-seq
MIRT2585381	hsa-miR-4775	CLIP-seq
MIRT2585382	hsa-miR-4781-3p	CLIP-seq
MIRT1204557	hsa-miR-4786-3p	CLIP-seq
MIRT2585383	hsa-miR-4787-3p	CLIP-seq
MIRT2585384	hsa-miR-4795-3p	CLIP-seq
MIRT2585385	hsa-miR-4803	CLIP-seq
MIRT2585386	hsa-miR-498	CLIP-seq
MIRT1551958	hsa-miR-5047	CLIP-seq
MIRT1204558	hsa-miR-5095	CLIP-seq
MIRT2287146	hsa-miR-512-3p	CLIP-seq
MIRT2585389	hsa-miR-519d	CLIP-seq
MIRT2585390	hsa-miR-520a-3p	CLIP-seq
MIRT2585391	hsa-miR-520b	CLIP-seq
MIRT2585392	hsa-miR-520c-3p	CLIP-seq
MIRT2585393	hsa-miR-520d-3p	CLIP-seq
MIRT2585395	hsa-miR-520e	CLIP-seq
MIRT2585396	hsa-miR-520g	CLIP-seq
MIRT2585397	hsa-miR-520h	CLIP-seq
MIRT2585399	hsa-miR-548s	CLIP-seq
MIRT2585400	hsa-miR-556-5p	CLIP-seq
MIRT2585401	hsa-miR-588	CLIP-seq
MIRT2585402	hsa-miR-590-3p	CLIP-seq
MIRT2585404	hsa-miR-621	CLIP-seq
MIRT2585405	hsa-miR-655	CLIP-seq
MIRT2585406	hsa-miR-718	CLIP-seq
MIRT2585407	hsa-miR-767-3p	CLIP-seq
MIRT2585408	hsa-miR-770-5p	CLIP-seq
MIRT2585409	hsa-miR-891b	CLIP-seq
MIRT2585410	hsa-miR-93	CLIP-seq
MIRT2585411	hsa-miR-939	CLIP-seq
MIRT1204560	hsa-miR-944	CLIP-seq
MIRT1204555	hsa-miR-4252	CLIP-seq

Show/Hide all (2)

Transcription factor	Regulation	Reference
NFKB1	Activation	19340308
RELA	Activation	19340308

Show/Hide all (47)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000139	Component	Golgi membrane	TAS
GO:0001920	Process	Negative regulation of receptor recycling	IMP	22854040
GO:0002376	Process	Immune system process	IEA
GO:0005515	Function	Protein binding	IPI	15837803, 16189514, 17500595, 17646400, 18307994, 19805065, 20174559, 20195357, 20388642, 21516116, 21617041, 21903422, 21988832, 22854040, 23275563, 23414517, 23956131, 24136289, 24705354, 25026213, 25416956, 25803835, 25910212, 26871637, 27086836, 29892012, 30561431, 31515488, 322
GO:0005634	Component	Nucleus	IBA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IEA
GO:0005737	Component	Cytoplasm	TAS	9488477
GO:0005768	Component	Endosome	IEA
GO:0005776	Component	Autophagosome	IEA
GO:0005794	Component	Golgi apparatus	IBA
GO:0005794	Component	Golgi apparatus	IDA	15837803, 27534431
GO:0005794	Component	Golgi apparatus	IEA
GO:0005802	Component	Trans-Golgi network	IDA	20174559
GO:0005829	Component	Cytosol	IDA
GO:0005829	Component	Cytosol	TAS
GO:0006914	Process	Autophagy	IEA
GO:0007030	Process	Golgi organization	IMP	15837803
GO:0007165	Process	Signal transduction	TAS	9488477
GO:0008104	Process	Intracellular protein localization	IEA
GO:0008219	Process	Cell death	TAS	9488477
GO:0008270	Function	Zinc ion binding	IEA
GO:0010508	Process	Positive regulation of autophagy	IDA	21617041
GO:0030674	Function	Protein-macromolecule adaptor activity	IPI	25803835
GO:0031410	Component	Cytoplasmic vesicle	IEA
GO:0031593	Function	Polyubiquitin modification-dependent protein binding	IDA	21617041
GO:0034067	Process	Protein localization to Golgi apparatus	IBA
GO:0034067	Process	Protein localization to Golgi apparatus	IMP	15837803
GO:0034620	Process	Cellular response to unfolded protein	IMP	27534431
GO:0042802	Function	Identical protein binding	IPI	23414517, 24983867, 25416956, 25910212, 26871637, 32296183
GO:0043001	Process	Golgi to plasma membrane protein transport	IMP	15837803
GO:0043122	Process	Regulation of canonical NF-kappaB signal transduction	IBA
GO:0043124	Process	Negative regulation of canonical NF-kappaB signal transduction	IEA
GO:0045087	Process	Innate immune response	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0048471	Component	Perinuclear region of cytoplasm	IEA
GO:0050829	Process	Defense response to Gram-negative bacterium	IMP	21617041
GO:0055037	Component	Recycling endosome	IEA
GO:0055038	Component	Recycling endosome membrane	TAS
GO:0061734	Process	Type 2 mitophagy	IMP	25294927
GO:0070530	Function	K63-linked polyubiquitin modification-dependent protein binding	IBA
GO:0070530	Function	K63-linked polyubiquitin modification-dependent protein binding	IEA
GO:0090161	Process	Golgi ribbon formation	IBA
GO:0090161	Process	Golgi ribbon formation	IDA	15837803
GO:0090161	Process	Golgi ribbon formation	IMP	27534431
GO:1904417	Process	Positive regulation of xenophagy	IMP	21617041

MIM	HGNC	e!Ensembl
602432	17142	ENSG00000123240

Q96CV9

Protein name

Optineurin (E3-14.7K-interacting protein) (FIP-2) (Huntingtin yeast partner L) (Huntingtin-interacting protein 7) (HIP-7) (Huntingtin-interacting protein L) (NEMO-related protein) (Optic neuropathy-inducing protein) (Transcription factor IIIA-interacting

Protein function

Plays an important role in the maintenance of the Golgi complex, in membrane trafficking, in exocytosis, through its interaction with myosin VI and Rab8 (PubMed:27534431). Links myosin VI to the Golgi complex and plays an important role in Golgi

PDB

2LO4 , 2LUE , 3VTV , 3VTW , 5AAZ , 5B83 , 5EOA , 5EOF , 7CZM , 9B0B , 9B0Z , 9B12 , 9IKQ

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF11577	NEMO	37 → 104	NF-kappa-B essential modulator NEMO	Family
PF16516	CC2-LZ	408 → 507	Leucine zipper of domain CC2 of NEMO, NF-kappa-B essential modulator	Coiled-coil
PF18414	zf_C2H2_10	551 → 576		Domain

Tissue specificity

TISSUE SPECIFICITY: Present in aqueous humor of the eye (at protein level). Expressed in the trabecular meshwork (at protein level) (PubMed:11834836, PubMed:12379221, PubMed:12646749). Expressed in nonpigmented ciliary epithelium (at protein level) (PubMe

Sequence

MSHQPLSCLTEKEDSPSESTGNGPPHLAHPNLDTFTPEELLQQMKELLTENHQLKEAMKL
NNQAMKGRFEELSAWTEKQKEERQFFEIQSKEAKERLMALSHENEKLKEELGKLKGKSER
SSEDPTDDSRLPRAEAEQEKDQLRTQVVRLQAEKADLLGIVSELQLKLNSSGSSEDSFVE
IRMAEGEAEGSVKEIKHSPGPTRTVSTGTALSKYRSRSADGAKNYFEHEELTVSQLLLCL
REGNQKVERLEVALKEAKERVSDFEKKTSNRSEIETQTEGSTEKENDEEKGPETVGSEVE
ALNLQVTSLFKELQEAHTKLSEAELMKKRLQEKCQALERKNSAIPSELNEKQELVYTNKK
LELQVESMLSEIKMEQAKTEDEKSKLTVLQMTHNKLLQEHNNALKTIEELTRKESEKVDR
AVLKELSEKLELAEKALASKQLQMDEMKQTIAKQEEDLETMTILRAQMEVYCSDFHAERA
AREKIHEEKEQLALQLAVLLKENDAFEDGGRQSLMEMQSRHGARTSDSDQQAYLVQRGAE
DRDWRQQRNIPIHSCPKCGEVLPDIDTLQIHVMDCII

Sequence length

577

Interactions

View interactions

	KEGG		Reactome
	Mitophagy - animal Autophagy - animal Amyotrophic lateral sclerosis Pathways of neurodegeneration - multiple diseases		Regulation of PLK1 Activity at G2/M Transition TBC/RABGAPs

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)

Show/Hide Causal Diseases (7)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Amyotrophic lateral sclerosis type 10	Likely pathogenic; Pathogenic	rs1401721711	RCV002463849	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Amyotrophic lateral sclerosis type 12	Pathogenic; Likely pathogenic	rs750571210, rs1370982012, rs2131520977, rs753966040, rs2131488944, rs757559365, rs2131488754, rs778911925, rs759311192, rs774772178, rs768117011, rs1401721711, rs786205611, rs780777015, rs1657737496 View all (26 more)	RCV001958587 RCV001377787 RCV001530974 RCV002541155 RCV005410260 View all (36 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Glaucoma 1, open angle, E	Pathogenic; Likely pathogenic	rs750571210, rs1370982012, rs753966040, rs757559365, rs2131488754, rs778911925, rs759311192, rs774772178, rs768117011, rs1401721711, rs786205611, rs780777015, rs1657737496, rs1206423781, rs1358641287 View all (21 more)	RCV001958587 RCV001377787 RCV002541155 RCV001902656 RCV001973985 View all (31 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Motor neuron disease	Likely pathogenic	rs895824243	RCV000492199	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
OPTN-related disorder	Likely pathogenic; Pathogenic	rs753966040, rs746420444, rs764596973, rs2539041764, rs774258585	RCV004528534 RCV004534084 RCV004536679 RCV003479605 RCV004540105	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Ovarian serous cystadenocarcinoma	Likely pathogenic	rs113349726	RCV005926750	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Primary open angle glaucoma	Pathogenic; Likely pathogenic	rs750571210, rs1370982012, rs753966040, rs757559365, rs2131488754, rs778911925, rs759311192, rs774772178, rs768117011, rs1401721711, rs786205611, rs780777015, rs1657737496, rs1206423781, rs1358641287 View all (20 more)	RCV001958587 RCV001377787 RCV002541155 RCV001902656 RCV001973985 View all (30 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (19)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Acute myeloid leukemia	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ALZHEIMER DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Amyotrophic lateral sclerosis	Uncertain significance	ClinVar CTD, ClinVar, Disgenet, GWAS catalog, Orphanet CTD, ClinVar, Disgenet, GWAS catalog, Orphanet CTD, ClinVar, Disgenet, GWAS catalog, Orphanet CTD, ClinVar, Disgenet, GWAS catalog, Orphanet CTD, ClinVar, Disgenet, GWAS catalog, Orphanet CTD, ClinVar, Disgenet, GWAS catalog, Orphanet	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
AMYOTROPHIC LATERAL SCLEROSIS 10	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AMYOTROPHIC LATERAL SCLEROSIS 12	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AMYOTROPHIC LATERAL SCLEROSIS 12 WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA	—	CTD, HPO CTD, HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Amyotrophic Lateral Sclerosis, Recessive	Uncertain significance; Likely benign; Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEMENTIA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Uncertain significance; Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Frontotemporal dementia	Uncertain significance	ClinVar Disgenet	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Gastric cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLAUCOMA	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glaucoma, normal tension, susceptibility to	Benign; Likely benign	ClinVar CTD, ClinGen, ClinVar, GWAS catalog CTD, ClinGen, ClinVar, GWAS catalog	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
GLAUCOMA, OPEN-ANGLE	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLAUCOMA, PRIMARY OPEN ANGLE	—	HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SARCOIDOSIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Likely benign; Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (128)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Alzheimer Disease	Alzheimer disease	Pubtator	21360076, 35666053	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Amyloidosis	Amyloidosis	BEFREE	29077793		★★★★★ ★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis	Amyotrophic Lateral Sclerosis	BEFREE	20428114, 21074290, 21074902, 21220178, 21550138, 21613650, 21644038, 21802176, 21825243, 21852022, 22015311, 22244934, 22402017, 22762947, 22892313 View all (48 more)		★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Amyotrophic Lateral Sclerosis	Amyotrophic Lateral Sclerosis	CTD_human_DG	21059646, 25096716		★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Amyotrophic Lateral Sclerosis	Amyotrophic lateral sclerosis	Pubtator	21408173, 21550138, 23078282, 23100398, 23755159, 23881933, 25294927, 25681989, 25700176, 25801386, 25803835, 25943890, 26303227, 26365381, 26740678 View all (13 more)	Associate	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Amyotrophic Lateral Sclerosis	Amyotrophic Lateral Sclerosis	ORPHANET_DG	24085347		★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Amyotrophic lateral sclerosis	Amyotrophic Lateral Sclerosis	Orphanet			★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Amyotrophic Lateral Sclerosis	Amyotrophic Lateral Sclerosis	HPO_DG			★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Amyotrophic lateral sclerosis 1	Amyotrophic lateral sclerosis	Pubtator	21360076, 31838784	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
AMYOTROPHIC LATERAL SCLEROSIS 1	Lateral Sclerosis	BEFREE	21613650, 21802176, 22708870		★★★★★ ★☆☆☆☆ Found in Text Mining only
AMYOTROPHIC LATERAL SCLEROSIS 12	Amyotrophic lateral sclerosis	UNIPROT_DG	20428114, 27534431		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AMYOTROPHIC LATERAL SCLEROSIS 12	Amyotrophic lateral sclerosis	CTD_human_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AMYOTROPHIC LATERAL SCLEROSIS 12	Amyotrophic lateral sclerosis	CLINVAR_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Amyotrophic Lateral Sclerosis With Dementia	Amyotrophic Lateral Sclerosis With Dementia	CTD_human_DG	21059646, 25096716		★★★★★ ★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis, Familial	Amyotrophic lateral sclerosis	BEFREE	21220178, 22015311, 22708870, 23062601, 29272468		★★★★★ ★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis, Guam Form	Amyotrophic lateral sclerosis	CTD_human_DG	21059646, 25096716		★★★★★ ★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis, Sporadic	Lateral Sclerosis	BEFREE	21613650, 21802176, 22015311, 22708870, 22762947, 26203661, 26503823, 27493188, 31838784		★★★★★ ★☆☆☆☆ Found in Text Mining only
Angle Closure Glaucoma	Angle Closure Glaucoma	BEFREE	24825108		★★★★★ ★☆☆☆☆ Found in Text Mining only
Anxiety	Anxiety Disorder	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Astrocytoma	Astrocytoma	BEFREE	10974570		★★★★★ ★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune Diseases	BEFREE	28192730, 29951055		★★★★★ ★☆☆☆☆ Found in Text Mining only
Blindness	Blindness	Pubtator	17663725, 18485006, 20085643	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Bone Diseases	Bone Disease	BEFREE	28192730, 28993189		★★★★★ ★☆☆☆☆ Found in Text Mining only
Bone Diseases	Bone disease	Pubtator	28993189	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Brain Neoplasms	Brain Neoplasms	BEFREE	10974570, 15208678, 18981988		★★★★★ ★☆☆☆☆ Found in Text Mining only
Brain Tumor, Primary	Brain Neoplasms	BEFREE	10974570		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	17875699, 26805761		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	33917174	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	10519393		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	37043475	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	25026213, 31285534		★★★★★ ★☆☆☆☆ Found in Text Mining only
Celiac Disease	Celiac disease	BEFREE	28168522		★★★★★ ★☆☆☆☆ Found in Text Mining only
Chronic kidney disease stage 5	Kidney Disease	BEFREE	28926143		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognition disorder	Pubtator	34528736	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cognitive Dysfunction	Cognition disorder	Pubtator	34528736	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Colitis	Colitis	BEFREE	26044960		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	36333388	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	BEFREE	31104323		★★★★★ ★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn disease	Pubtator	24943399	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn Disease	BEFREE	26044960, 29692785, 29971063		★★★★★ ★☆☆☆☆ Found in Text Mining only
Deglutition Disorders	Dysphagia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Dementia	Dementia	Pubtator	34099552	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Depressive disorder	Mental Depression	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	34528736	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathy	Diabetic Nephropathy	BEFREE	29367621, 30571313		★★★★★ ★☆☆☆☆ Found in Text Mining only
Disorder of eye	Disorder Of Eye	BEFREE	20085643		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dysarthria	Dysarthria	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Eye Diseases	Eye disease	Pubtator	33548116	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Familial Primary Pulmonary Hypertension	Pulmonary hypertension	Pubtator	36899621	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Frontotemporal dementia	Frontotemporal dementia	BEFREE	21360076, 25943890, 27166223, 29080331, 29558868, 30030024, 31838784		★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Frontotemporal Dementia	Frontotemporal dementia	Pubtator	29558868, 31838784, 32843152, 36799407	Associate	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Frontotemporal Lobar Degeneration	Frontotemporal dementia	BEFREE	21074902, 21360076, 25943890		★★★★★ ★☆☆☆☆ Found in Text Mining only
Giant Cell Tumor of Bone	Giant cell tumor of bone	BEFREE	22936311		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glaucoma	Glaucoma	BEFREE	12379221, 12766061, 12811537, 14619973, 15206647, 15326130, 15498064, 15557444, 15607428, 16020311, 16043855, 16885188, 16885925, 17148662, 17293779 View all (29 more)		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glaucoma	Glaucoma	Pubtator	12789137, 16043855, 16288197, 16885188, 17148662, 17293779, 17563717, 17663725, 17702576, 18385781, 19145250, 20085643, 21408173, 21528004, 23078282 View all (13 more)	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glaucoma	Glaucoma	LHGDN	12920093, 14597044, 15370540, 15498064, 15557444, 15851979, 16043855, 17148662		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glaucoma 1 Open Angle A	Glaucoma	Pubtator	15547491, 18385781, 29540704	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
GLAUCOMA 1, OPEN ANGLE, E	Open Angle Glaucoma	CLINVAR_DG			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Glaucoma 3 Primary Congenital A	Glaucoma	Pubtator	27485216, 37530275	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Glaucoma Open Angle	Open angle glaucoma	Pubtator	12789137, 15547491, 16148883, 16205626, 16885188, 16885925, 17563717, 17615537, 18307994, 18485006, 19096531, 19145250, 19710941, 25414181, 25637523 View all (5 more)	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Glaucoma, Open-Angle	Glaucoma	LHGDN	11834836, 12939304, 14627677, 15226658, 15326130, 15557444, 16374045, 17563717, 18307994, 19096531		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glaucoma, Open-Angle	Glaucoma	BEFREE	14597044, 15326130, 15370540, 15498064, 16885188, 17122126, 18385781, 19710941, 21872936		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glaucoma, Open-Angle	Glaucoma	CTD_human_DG	21059646, 25096716		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glaucoma, Open-Angle	Glaucoma	HPO_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glaucoma, Primary Open Angle	Glaucoma	BEFREE	11834836, 12379221, 12616399, 12811537, 12912697, 12939304, 14755458, 15226658, 15342693, 15370540, 15547491, 15557444, 16148883, 16205626, 16332362 View all (34 more)		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glaucoma, Primary Open Angle	Glaucoma	GENOMICS_ENGLAND_DG	11834836, 25681989		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glaucoma, Primary Open Angle	Glaucoma	UNIPROT_DG	11834836, 12939304, 14597044, 15226658, 15326130, 15557444, 17389490, 20085643, 22854040, 23669351, 24752605		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glaucoma, Primary Open Angle	Glaucoma	CTD_human_DG	21059646, 25096716		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glaucoma, Primary Open Angle	Glaucoma	CLINVAR_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glioblastoma	Glioblastoma	BEFREE	10974570, 15208678		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	35659339	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	35980802	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	10974570, 15208678		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	15160992		★★★★★ ★☆☆☆☆ Found in Text Mining only
Huntington Disease	Huntington Disease	BEFREE	21360076, 23178947, 30290707		★★★★★ ★☆☆☆☆ Found in Text Mining only
Huntington Disease	Huntington disease	Pubtator	21360076, 29394115	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
IGA Glomerulonephritis	Glomerulonephritis	BEFREE	28926143		★★★★★ ★☆☆☆☆ Found in Text Mining only
Immune thrombocytopenic purpura	Immune Thrombocytopenic Purpura	BEFREE	31030100		★★★★★ ★☆☆☆☆ Found in Text Mining only
Immunologic Deficiency Syndromes	Immunologic Deficiency Syndromes	BEFREE	21353741		★★★★★ ★☆☆☆☆ Found in Text Mining only
Inclusion Body Myopathy, Sporadic	Inclusion body myopathy	BEFREE	22860700		★★★★★ ★☆☆☆☆ Found in Text Mining only
Inclusion Body Myositis (disorder)	Inclusion Body Myositis	BEFREE	22860700		★★★★★ ★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory Bowel Disease	BEFREE	29692785		★★★★★ ★☆☆☆☆ Found in Text Mining only
Interstitial Cystitis	Interstitial Cystitis	BEFREE	18815217		★★★★★ ★☆☆☆☆ Found in Text Mining only
Kidney Failure, Chronic	Kidney Failure	BEFREE	28926143		★★★★★ ★☆☆☆☆ Found in Text Mining only
Laryngospasm	Laryngospasm	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	32783661	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	30213751		★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver Neoplasms	Liver neoplasm	Pubtator	21360076, 27620379, 29394115, 30033073, 37043475	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Low Tension Glaucoma	Low Tension Glaucoma	BEFREE	12811537, 14597044, 14755458, 15226658, 15326130, 15370540, 15557444, 15851979, 16020311, 16043855, 16988596, 17148662, 20161783, 23062601, 23286385 View all (9 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Machado-Joseph Disease	Machado-Joseph Disease	BEFREE	21360076		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	17875699, 26805761		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	25026213, 31285534		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	14749471		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	19329879, 22260660, 25026213, 29971063		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mitochondrial Diseases	Mitochondrial disease	Pubtator	25294927, 27247382, 27484150	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Mood swings	Mood swings	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Motor neuron atrophy	Motor neuron atrophy	BEFREE	21360076		★★★★★ ★☆☆☆☆ Found in Text Mining only
Motor Neuron Disease	Motor Neuron Disease	BEFREE	21613650, 25943890, 26203661, 29951055		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Motor Neuron Disease	Motor Neuron Disease	CLINVAR_DG	28089114		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Muscular Dystrophy, Oculopharyngeal	Oculopharyngeal Muscular Dystrophy	BEFREE	22860700		★★★★★ ★☆☆☆☆ Found in Text Mining only
Myopathy	Myopathy	BEFREE	22860700		★★★★★ ★☆☆☆☆ Found in Text Mining only
Myopia	Myopia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	21353741, 30514792		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	10974570, 20511222, 28843006		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neurodegenerative Diseases	Neurodegenerative disorder	Pubtator	17702576, 20085643, 23078282, 27247382, 27620379, 29394115, 35714595	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neurodegenerative Disorders	Neurodegenerative Disorders	BEFREE	20161783, 21360076, 23178947, 23669351, 25096716, 25294927, 25855473, 26303227, 27247382, 27552911, 27620379, 29394115, 29875767, 29971063, 30017954		★★★★★ ★☆☆☆☆ Found in Text Mining only
NON RARE IN EUROPE: Primary adult open-angle glaucoma	Open Angle Glaucoma	Orphanet			★★★★★ ★☆☆☆☆ Found in Text Mining only
Ocular Hypertension	Ocular Hypertension	BEFREE	16401791, 17615537		★★★★★ ★☆☆☆☆ Found in Text Mining only
Optic Atrophy 1	Optic Atrophy	BEFREE	16885188		★★★★★ ★☆☆☆☆ Found in Text Mining only
Optic Atrophy, Hereditary, Leber	Hereditary Leber Optic Atrophy	BEFREE	16885188		★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteitis Deformans	Paget disease	BEFREE	20436471, 20839008, 21623375, 21959292, 22796589, 22801549, 22936311, 28993189, 29782529, 29867991, 29971063, 31076632, 31530427		★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteitis Deformans	Paget disease	CTD_human_DG	20436471, 21059646		★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteitis Deformans	Paget disease	GWASCAT_DG	20436471, 21623375		★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteitis Deformans	Paget disease	GWASDB_DG	20436471, 21623375		★★★★★ ★☆☆☆☆ Found in Text Mining only
Paget Disease	Paget disease	GWASDB_DG	20436471, 21623375		★★★★★ ★☆☆☆☆ Found in Text Mining only
Paget Disease	Paget disease	BEFREE	31076632		★★★★★ ★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	BEFREE	23178947, 26268526, 29272468, 29867311, 30945962, 31820696		★★★★★ ★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	Pubtator	26365381, 30945962, 36852447	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Pick Disease of the Brain	Pica	BEFREE	23178947, 29080331, 30030024, 31838784		★★★★★ ★☆☆☆☆ Found in Text Mining only
Polymyositis	Polymyositis	BEFREE	22860700		★★★★★ ★☆☆☆☆ Found in Text Mining only
Primary angle-closure glaucoma	Angle closure glaucoma	BEFREE	24825108		★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	14749471, 18762808		★★★★★ ★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	BEFREE	31104323		★★★★★ ★☆☆☆☆ Found in Text Mining only
Respiratory Failure	Respiratory Failure	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Respiratory Tract Diseases	Respiratory system infectious disease	Pubtator	26303227	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Secondary Open Angle Glaucoma	Open Angle Glaucoma	CTD_human_DG	21059646, 25096716		★★★★★ ★☆☆☆☆ Found in Text Mining only
Testicular Germ Cell Tumor	Testicular germ cell tumor	Pubtator	17167184	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Vision Disorders	Visual disorder	Pubtator	16043855, 40719721	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

OPTN (optineurin)