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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	4976
Gene name	OPA1 mitochondrial dynamin like GTPase
Gene symbol	OPA1
Synonyms (NCBI Gene)	BERHSMGM1MTDPS14NPGNTGlargeG
Chromosome	3
Chromosome location	3q29
Summary	The protein encoded by this gene is a nuclear-encoded mitochondrial protein with similarity to dynamin-related GTPases. The encoded protein localizes to the inner mitochondrial membrane and helps regulate mitochondrial stability and energy output. This pr

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SNP ID	Visualize variation	Clinical significance	Consequence
rs166850	T>A,C	Risk-factor, benign	Intron variant
rs10451941	T>A,C	Benign, risk-factor	Intron variant
rs28939082	G>A	Pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs80356528	G>T	Pathogenic	Splice donor variant
rs80356529	G>A,C	Pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs80356531	T>-	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs104893753	C>T	Pathogenic	Non coding transcript variant, stop gained, coding sequence variant
rs121908375	G>A	Pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs143319805	A>G	Likely-benign, conflicting-interpretations-of-pathogenicity, uncertain-significance, pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs143929819	A>C,G	Likely-pathogenic	Synonymous variant, stop lost, terminator codon variant, non coding transcript variant
rs145565705	C>G	Conflicting-interpretations-of-pathogenicity	Missense variant, 5 prime UTR variant, coding sequence variant, non coding transcript variant
rs147242797	C>A,T	Conflicting-interpretations-of-pathogenicity, likely-benign	Missense variant, coding sequence variant, synonymous variant, non coding transcript variant
rs387906899	A>G	Pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs387906900	G>T	Pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs398124297	T>-	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs398124303	A>C,G	Pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs535885178	G>A	Likely-pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs727504058	T>A	Pathogenic	Stop gained, intron variant, coding sequence variant, non coding transcript variant
rs727504059	G>A	Pathogenic	Splice donor variant
rs727504060	T>A,C,G	Pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs745927258	G>A,C	Pathogenic	Splice donor variant
rs748215343	G>C,T	Pathogenic	Missense variant, coding sequence variant, non coding transcript variant, stop gained
rs754576717	G>A	Likely-pathogenic	Intron variant
rs761460379	C>G,T	Pathogenic	Non coding transcript variant, missense variant, coding sequence variant, 5 prime UTR variant, stop gained
rs761743852	C>A,T	Pathogenic	Stop gained, non coding transcript variant, synonymous variant, coding sequence variant
rs780333963	C>T	Likely-pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs794727069	C>T	Likely-pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs794727289	TTAAAACTTC>-	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant, 5 prime UTR variant
rs794727804	AA>-	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs794729196	C>-	Likely-pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs863224128	T>G	Pathogenic	Stop gained, non coding transcript variant, coding sequence variant
rs863224130	G>A,T	Pathogenic, likely-pathogenic	Splice acceptor variant
rs863224131	G>T	Likely-pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs863224132	A>G	Likely-pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs863224135	T>C	Likely-pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs863224136	G>T	Pathogenic	Intron variant
rs863224140	GAAGCATTTATCATTCAC>-,GAAGCATTTATCATTCACGAAGCATTTATCATTCAC	Conflicting-interpretations-of-pathogenicity, benign, uncertain-significance	Non coding transcript variant, inframe deletion, 5 prime UTR variant, inframe insertion, coding sequence variant
rs863224141	CTT>ATA	Pathogenic	Stop gained, intron variant, non coding transcript variant, coding sequence variant
rs863224142	GA>-	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs863225274	T>A	Pathogenic	Stop gained, non coding transcript variant, coding sequence variant
rs863225275	->TT	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs863225276	G>A	Pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs863225277	A>G	Pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs879255510	G>A	Pathogenic	Splice acceptor variant
rs879255511	CAT>-	Pathogenic	Inframe deletion, non coding transcript variant, coding sequence variant
rs879255512	G>-	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs879255513	GA>-	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs879255560	TTAG>-	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs879255594	G>A	Pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs886041317	A>G,T	Pathogenic, likely-pathogenic	Splice acceptor variant
rs886041318	G>C,T	Pathogenic	Splice donor variant
rs886043136	AA>-	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs1057519244	G>A	Likely-pathogenic	Intron variant
rs1064794208	TTGA>-	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs1064795743	A>C	Likely-pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs1180256773	G>A	Likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs1319065221	G>A,T	Likely-pathogenic	Non coding transcript variant, stop gained, coding sequence variant, missense variant
rs1553797598	->GATGCTT	Pathogenic	Non coding transcript variant, stop gained, coding sequence variant
rs1553871618	A>-	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant, 5 prime UTR variant
rs1553876590	G>C	Likely-pathogenic, not-provided	Non coding transcript variant, missense variant, coding sequence variant
rs1553877591	C>G	Likely-pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs1553877864	C>T	Pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs1553877912	->A	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs1553877946	T>C	Conflicting-interpretations-of-pathogenicity	Non coding transcript variant, missense variant, coding sequence variant
rs1553878117	A>C	Likely-pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs1553878554	G>A	Likely-pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs1553878647	A>TTC	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs1560377736	T>-	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs1577162868	G>A	Pathogenic	Splice donor variant, intron variant
rs1577226484	T>-	Pathogenic	Splice donor variant
rs1577228080	G>C	Likely-pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs1577242473	TGTAA>-	Pathogenic	Splice donor variant, non coding transcript variant, intron variant, coding sequence variant
rs1577243012	A>T	Likely-pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs1577244261	C>G	Pathogenic	Non coding transcript variant, missense variant, coding sequence variant

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miRTarBase ID	miRNA	Experiments	Reference
MIRT019759	hsa-miR-375	Microarray	20215506
MIRT024444	hsa-miR-215-5p	Microarray	19074876
MIRT026273	hsa-miR-192-5p	Microarray	19074876
MIRT047347	hsa-miR-34a-5p	CLASH	23622248
MIRT044835	hsa-miR-320a	CLASH	23622248
MIRT1203703	hsa-miR-302f	CLIP-seq
MIRT1203704	hsa-miR-33a	CLIP-seq
MIRT1203705	hsa-miR-33b	CLIP-seq
MIRT1203706	hsa-miR-3612	CLIP-seq
MIRT1203707	hsa-miR-3929	CLIP-seq
MIRT1203708	hsa-miR-410	CLIP-seq
MIRT1203709	hsa-miR-4419b	CLIP-seq
MIRT1203710	hsa-miR-4427	CLIP-seq
MIRT1203711	hsa-miR-4443	CLIP-seq
MIRT1203712	hsa-miR-4478	CLIP-seq
MIRT1203713	hsa-miR-485-5p	CLIP-seq
MIRT1203714	hsa-miR-650	CLIP-seq
MIRT1203715	hsa-miR-1208	CLIP-seq
MIRT1203716	hsa-miR-1265	CLIP-seq
MIRT1203717	hsa-miR-144	CLIP-seq
MIRT1203718	hsa-miR-1827	CLIP-seq
MIRT1203719	hsa-miR-196a	CLIP-seq
MIRT1203720	hsa-miR-196b	CLIP-seq
MIRT1203721	hsa-miR-2053	CLIP-seq
MIRT1203722	hsa-miR-2054	CLIP-seq
MIRT1203723	hsa-miR-2116	CLIP-seq
MIRT1203724	hsa-miR-2392	CLIP-seq
MIRT1203725	hsa-miR-3065-5p	CLIP-seq
MIRT1203726	hsa-miR-3156-5p	CLIP-seq
MIRT1203727	hsa-miR-3163	CLIP-seq
MIRT1203728	hsa-miR-3187-3p	CLIP-seq
MIRT1203729	hsa-miR-320e	CLIP-seq
MIRT1203730	hsa-miR-3611	CLIP-seq
MIRT1203731	hsa-miR-3617	CLIP-seq
MIRT1203732	hsa-miR-3646	CLIP-seq
MIRT1203733	hsa-miR-3647-3p	CLIP-seq
MIRT1203734	hsa-miR-3652	CLIP-seq
MIRT1203735	hsa-miR-3671	CLIP-seq
MIRT1203736	hsa-miR-382	CLIP-seq
MIRT1203737	hsa-miR-409-3p	CLIP-seq
MIRT1203738	hsa-miR-4269	CLIP-seq
MIRT1203739	hsa-miR-4279	CLIP-seq
MIRT1203740	hsa-miR-4287	CLIP-seq
MIRT1203741	hsa-miR-4430	CLIP-seq
MIRT1203742	hsa-miR-4469	CLIP-seq
MIRT1203743	hsa-miR-4514	CLIP-seq
MIRT1203744	hsa-miR-4529-5p	CLIP-seq
MIRT1203745	hsa-miR-4535	CLIP-seq
MIRT1203746	hsa-miR-4677-5p	CLIP-seq
MIRT1203747	hsa-miR-4684-3p	CLIP-seq
MIRT1203748	hsa-miR-4685-3p	CLIP-seq
MIRT1203749	hsa-miR-4692	CLIP-seq
MIRT1203750	hsa-miR-4699-5p	CLIP-seq
MIRT1203751	hsa-miR-4715-3p	CLIP-seq
MIRT1203752	hsa-miR-4719	CLIP-seq
MIRT1203753	hsa-miR-4720-3p	CLIP-seq
MIRT1203754	hsa-miR-4742-5p	CLIP-seq
MIRT1203755	hsa-miR-4789-3p	CLIP-seq
MIRT1203756	hsa-miR-4795-3p	CLIP-seq
MIRT1203757	hsa-miR-492	CLIP-seq
MIRT1203758	hsa-miR-493	CLIP-seq
MIRT1203759	hsa-miR-495	CLIP-seq
MIRT1203760	hsa-miR-569	CLIP-seq
MIRT1203761	hsa-miR-641	CLIP-seq
MIRT1203762	hsa-miR-642b	CLIP-seq
MIRT1203763	hsa-miR-656	CLIP-seq
MIRT1203764	hsa-miR-668	CLIP-seq
MIRT1203765	hsa-miR-885-5p	CLIP-seq
MIRT1203766	hsa-miR-889	CLIP-seq
MIRT1203767	hsa-miR-3124-3p	CLIP-seq
MIRT1203768	hsa-miR-3143	CLIP-seq
MIRT1203728	hsa-miR-3187-3p	CLIP-seq
MIRT1203769	hsa-miR-3189-3p	CLIP-seq
MIRT1203704	hsa-miR-33a	CLIP-seq
MIRT1203705	hsa-miR-33b	CLIP-seq
MIRT1203706	hsa-miR-3612	CLIP-seq
MIRT1203770	hsa-miR-3614-3p	CLIP-seq
MIRT1203734	hsa-miR-3652	CLIP-seq
MIRT1203771	hsa-miR-3675-5p	CLIP-seq
MIRT1203772	hsa-miR-3689a-3p	CLIP-seq
MIRT1203773	hsa-miR-3689c	CLIP-seq
MIRT1203774	hsa-miR-377	CLIP-seq
MIRT1203707	hsa-miR-3929	CLIP-seq
MIRT1203775	hsa-miR-4283	CLIP-seq
MIRT1203709	hsa-miR-4419b	CLIP-seq
MIRT1203710	hsa-miR-4427	CLIP-seq
MIRT1203741	hsa-miR-4430	CLIP-seq
MIRT1203711	hsa-miR-4443	CLIP-seq
MIRT1203776	hsa-miR-4446-5p	CLIP-seq
MIRT1203777	hsa-miR-4477a	CLIP-seq
MIRT1203712	hsa-miR-4478	CLIP-seq
MIRT1203778	hsa-miR-4489	CLIP-seq
MIRT1203744	hsa-miR-4529-5p	CLIP-seq
MIRT1203779	hsa-miR-4638-3p	CLIP-seq
MIRT1203780	hsa-miR-4655-3p	CLIP-seq
MIRT1203781	hsa-miR-4675	CLIP-seq
MIRT1203782	hsa-miR-4687-3p	CLIP-seq
MIRT1203783	hsa-miR-4741	CLIP-seq
MIRT1203784	hsa-miR-4753-3p	CLIP-seq
MIRT1203785	hsa-miR-4755-5p	CLIP-seq
MIRT1203786	hsa-miR-4768-5p	CLIP-seq
MIRT1203713	hsa-miR-485-5p	CLIP-seq
MIRT1203787	hsa-miR-490-3p	CLIP-seq
MIRT1203788	hsa-miR-502-5p	CLIP-seq
MIRT1203789	hsa-miR-539	CLIP-seq
MIRT1203790	hsa-miR-548ag	CLIP-seq
MIRT1203791	hsa-miR-548ai	CLIP-seq
MIRT1203792	hsa-miR-552	CLIP-seq
MIRT1203793	hsa-miR-570	CLIP-seq
MIRT1203794	hsa-miR-583	CLIP-seq
MIRT1203795	hsa-miR-586	CLIP-seq
MIRT1203796	hsa-miR-624	CLIP-seq
MIRT1203797	hsa-miR-642a	CLIP-seq
MIRT1203798	hsa-miR-649	CLIP-seq
MIRT1203714	hsa-miR-650	CLIP-seq
MIRT1203763	hsa-miR-656	CLIP-seq
MIRT1203799	hsa-miR-664	CLIP-seq
MIRT1203800	hsa-miR-877	CLIP-seq
MIRT1203801	hsa-miR-1260	CLIP-seq
MIRT1203802	hsa-miR-1260b	CLIP-seq
MIRT1203803	hsa-miR-128	CLIP-seq
MIRT1203804	hsa-miR-1294	CLIP-seq
MIRT1203805	hsa-miR-188-3p	CLIP-seq
MIRT1203806	hsa-miR-203	CLIP-seq
MIRT1203807	hsa-miR-2276	CLIP-seq
MIRT1203808	hsa-miR-2467-5p	CLIP-seq
MIRT1203809	hsa-miR-2681	CLIP-seq
MIRT1203810	hsa-miR-296-3p	CLIP-seq
MIRT1203811	hsa-miR-29a	CLIP-seq
MIRT1203812	hsa-miR-29b	CLIP-seq
MIRT1203813	hsa-miR-29c	CLIP-seq
MIRT1203814	hsa-miR-3156-3p	CLIP-seq
MIRT1203815	hsa-miR-3179	CLIP-seq
MIRT1203816	hsa-miR-3188	CLIP-seq
MIRT1203817	hsa-miR-3192	CLIP-seq
MIRT1203735	hsa-miR-3671	CLIP-seq
MIRT1203818	hsa-miR-3975	CLIP-seq
MIRT1203819	hsa-miR-4271	CLIP-seq
MIRT1203820	hsa-miR-4289	CLIP-seq
MIRT1203821	hsa-miR-4314	CLIP-seq
MIRT1203822	hsa-miR-4316	CLIP-seq
MIRT1203823	hsa-miR-4420	CLIP-seq
MIRT1203824	hsa-miR-4505	CLIP-seq
MIRT1203825	hsa-miR-4639-3p	CLIP-seq
MIRT1203826	hsa-miR-4646-5p	CLIP-seq
MIRT1203827	hsa-miR-4659a-3p	CLIP-seq
MIRT1203828	hsa-miR-4659b-3p	CLIP-seq
MIRT1203829	hsa-miR-4680-3p	CLIP-seq
MIRT1203830	hsa-miR-4708-3p	CLIP-seq
MIRT1203831	hsa-miR-4724-5p	CLIP-seq
MIRT1203832	hsa-miR-4725-3p	CLIP-seq
MIRT1203833	hsa-miR-4747-5p	CLIP-seq
MIRT1203834	hsa-miR-4793-5p	CLIP-seq
MIRT1203835	hsa-miR-4794	CLIP-seq
MIRT1203713	hsa-miR-485-5p	CLIP-seq
MIRT1203836	hsa-miR-513a-3p	CLIP-seq
MIRT1203837	hsa-miR-553	CLIP-seq
MIRT1203838	hsa-miR-639	CLIP-seq
MIRT1203803	hsa-miR-128	CLIP-seq
MIRT2058796	hsa-miR-3545-3p	CLIP-seq
MIRT2058797	hsa-miR-3607-5p	CLIP-seq
MIRT1203819	hsa-miR-4271	CLIP-seq
MIRT1203832	hsa-miR-4725-3p	CLIP-seq
MIRT1203759	hsa-miR-495	CLIP-seq
MIRT2058798	hsa-miR-526b	CLIP-seq
MIRT1203837	hsa-miR-553	CLIP-seq
MIRT1203803	hsa-miR-128	CLIP-seq
MIRT1203806	hsa-miR-203	CLIP-seq
MIRT1203789	hsa-miR-539	CLIP-seq
MIRT1203704	hsa-miR-33a	CLIP-seq
MIRT1203705	hsa-miR-33b	CLIP-seq
MIRT1203706	hsa-miR-3612	CLIP-seq
MIRT1203707	hsa-miR-3929	CLIP-seq
MIRT1203709	hsa-miR-4419b	CLIP-seq
MIRT1203710	hsa-miR-4427	CLIP-seq
MIRT1203711	hsa-miR-4443	CLIP-seq
MIRT1203712	hsa-miR-4478	CLIP-seq
MIRT1203713	hsa-miR-485-5p	CLIP-seq
MIRT1203714	hsa-miR-650	CLIP-seq
MIRT2431798	hsa-miR-3607-3p	CLIP-seq
MIRT2431799	hsa-miR-4766-3p	CLIP-seq
MIRT2431800	hsa-miR-548g	CLIP-seq
MIRT2431801	hsa-miR-548p	CLIP-seq
MIRT2455633	hsa-miR-1227	CLIP-seq
MIRT1203725	hsa-miR-3065-5p	CLIP-seq
MIRT1203731	hsa-miR-3617	CLIP-seq
MIRT1203751	hsa-miR-4715-3p	CLIP-seq
MIRT1203752	hsa-miR-4719	CLIP-seq
MIRT1203761	hsa-miR-641	CLIP-seq
MIRT1203715	hsa-miR-1208	CLIP-seq
MIRT2585228	hsa-miR-1238	CLIP-seq
MIRT1203801	hsa-miR-1260	CLIP-seq
MIRT1203802	hsa-miR-1260b	CLIP-seq
MIRT1203716	hsa-miR-1265	CLIP-seq
MIRT1203804	hsa-miR-1294	CLIP-seq
MIRT1203718	hsa-miR-1827	CLIP-seq
MIRT1203805	hsa-miR-188-3p	CLIP-seq
MIRT1203806	hsa-miR-203	CLIP-seq
MIRT1203721	hsa-miR-2053	CLIP-seq
MIRT1203723	hsa-miR-2116	CLIP-seq
MIRT1203724	hsa-miR-2392	CLIP-seq
MIRT1203808	hsa-miR-2467-5p	CLIP-seq
MIRT2585229	hsa-miR-300	CLIP-seq
MIRT1203703	hsa-miR-302f	CLIP-seq
MIRT1203725	hsa-miR-3065-5p	CLIP-seq
MIRT2585230	hsa-miR-3121-3p	CLIP-seq
MIRT1203767	hsa-miR-3124-3p	CLIP-seq
MIRT2585231	hsa-miR-3127-3p	CLIP-seq
MIRT2585232	hsa-miR-3129-3p	CLIP-seq
MIRT1203814	hsa-miR-3156-3p	CLIP-seq
MIRT2585233	hsa-miR-3161	CLIP-seq
MIRT2585234	hsa-miR-3182	CLIP-seq
MIRT1203728	hsa-miR-3187-3p	CLIP-seq
MIRT1203816	hsa-miR-3188	CLIP-seq
MIRT1203769	hsa-miR-3189-3p	CLIP-seq
MIRT2585235	hsa-miR-3190	CLIP-seq
MIRT1203770	hsa-miR-3614-3p	CLIP-seq
MIRT1203731	hsa-miR-3617	CLIP-seq
MIRT2585236	hsa-miR-362-5p	CLIP-seq
MIRT1203732	hsa-miR-3646	CLIP-seq
MIRT2585237	hsa-miR-3686	CLIP-seq
MIRT1203772	hsa-miR-3689a-3p	CLIP-seq
MIRT1203773	hsa-miR-3689c	CLIP-seq
MIRT2585238	hsa-miR-381	CLIP-seq
MIRT1203818	hsa-miR-3975	CLIP-seq
MIRT2585239	hsa-miR-3978	CLIP-seq
MIRT1203820	hsa-miR-4289	CLIP-seq
MIRT1203822	hsa-miR-4316	CLIP-seq
MIRT2585240	hsa-miR-4318	CLIP-seq
MIRT2585241	hsa-miR-4330	CLIP-seq
MIRT2585242	hsa-miR-4474-3p	CLIP-seq
MIRT2585243	hsa-miR-4522	CLIP-seq
MIRT2585244	hsa-miR-4524	CLIP-seq
MIRT1203744	hsa-miR-4529-5p	CLIP-seq
MIRT2585245	hsa-miR-4666-3p	CLIP-seq
MIRT1203746	hsa-miR-4677-5p	CLIP-seq
MIRT2585246	hsa-miR-4679	CLIP-seq
MIRT2585247	hsa-miR-4690-5p	CLIP-seq
MIRT2585248	hsa-miR-4693-5p	CLIP-seq
MIRT1203751	hsa-miR-4715-3p	CLIP-seq
MIRT1203752	hsa-miR-4719	CLIP-seq
MIRT2585249	hsa-miR-4742-3p	CLIP-seq
MIRT2585250	hsa-miR-4744	CLIP-seq
MIRT2585251	hsa-miR-4778-5p	CLIP-seq
MIRT1203755	hsa-miR-4789-3p	CLIP-seq
MIRT1203834	hsa-miR-4793-5p	CLIP-seq
MIRT1203756	hsa-miR-4795-3p	CLIP-seq
MIRT2585252	hsa-miR-4799-5p	CLIP-seq
MIRT1203713	hsa-miR-485-5p	CLIP-seq
MIRT1203758	hsa-miR-493	CLIP-seq
MIRT1203759	hsa-miR-495	CLIP-seq
MIRT2585253	hsa-miR-500b	CLIP-seq
MIRT2585254	hsa-miR-501-5p	CLIP-seq
MIRT1203788	hsa-miR-502-5p	CLIP-seq
MIRT2585255	hsa-miR-518a-3p	CLIP-seq
MIRT2585256	hsa-miR-518b	CLIP-seq
MIRT2585257	hsa-miR-518c	CLIP-seq
MIRT2585258	hsa-miR-518d-3p	CLIP-seq
MIRT2585259	hsa-miR-518f	CLIP-seq
MIRT1203789	hsa-miR-539	CLIP-seq
MIRT2585260	hsa-miR-548aa	CLIP-seq
MIRT2585261	hsa-miR-548ac	CLIP-seq
MIRT2585262	hsa-miR-548ae	CLIP-seq
MIRT2585263	hsa-miR-548aj	CLIP-seq
MIRT2585264	hsa-miR-548am	CLIP-seq
MIRT2585265	hsa-miR-548d-3p	CLIP-seq
MIRT2431801	hsa-miR-548p	CLIP-seq
MIRT2585266	hsa-miR-548x	CLIP-seq
MIRT2585267	hsa-miR-548z	CLIP-seq
MIRT1203760	hsa-miR-569	CLIP-seq
MIRT2585268	hsa-miR-576-3p	CLIP-seq
MIRT2585269	hsa-miR-640	CLIP-seq
MIRT1203761	hsa-miR-641	CLIP-seq
MIRT1203762	hsa-miR-642b	CLIP-seq
MIRT1203763	hsa-miR-656	CLIP-seq
MIRT1203764	hsa-miR-668	CLIP-seq
MIRT1203765	hsa-miR-885-5p	CLIP-seq
MIRT2585270	hsa-miR-892a	CLIP-seq
MIRT1203715	hsa-miR-1208	CLIP-seq
MIRT2585228	hsa-miR-1238	CLIP-seq
MIRT1203716	hsa-miR-1265	CLIP-seq
MIRT1203718	hsa-miR-1827	CLIP-seq
MIRT1203721	hsa-miR-2053	CLIP-seq
MIRT2686849	hsa-miR-2115	CLIP-seq
MIRT1203723	hsa-miR-2116	CLIP-seq
MIRT1203724	hsa-miR-2392	CLIP-seq
MIRT2585229	hsa-miR-300	CLIP-seq
MIRT1203725	hsa-miR-3065-5p	CLIP-seq
MIRT1203767	hsa-miR-3124-3p	CLIP-seq
MIRT2585231	hsa-miR-3127-3p	CLIP-seq
MIRT2585232	hsa-miR-3129-3p	CLIP-seq
MIRT2585233	hsa-miR-3161	CLIP-seq
MIRT1203728	hsa-miR-3187-3p	CLIP-seq
MIRT1203769	hsa-miR-3189-3p	CLIP-seq
MIRT2585235	hsa-miR-3190	CLIP-seq
MIRT1203770	hsa-miR-3614-3p	CLIP-seq
MIRT1203731	hsa-miR-3617	CLIP-seq
MIRT1203772	hsa-miR-3689a-3p	CLIP-seq
MIRT1203773	hsa-miR-3689c	CLIP-seq
MIRT2585238	hsa-miR-381	CLIP-seq
MIRT2686850	hsa-miR-3919	CLIP-seq
MIRT2686851	hsa-miR-3925-5p	CLIP-seq
MIRT2585239	hsa-miR-3978	CLIP-seq
MIRT2585240	hsa-miR-4318	CLIP-seq
MIRT2585241	hsa-miR-4330	CLIP-seq
MIRT2585242	hsa-miR-4474-3p	CLIP-seq
MIRT2585244	hsa-miR-4524	CLIP-seq
MIRT1203744	hsa-miR-4529-5p	CLIP-seq
MIRT1203827	hsa-miR-4659a-3p	CLIP-seq
MIRT1203828	hsa-miR-4659b-3p	CLIP-seq
MIRT2585245	hsa-miR-4666-3p	CLIP-seq
MIRT1203746	hsa-miR-4677-5p	CLIP-seq
MIRT2585246	hsa-miR-4679	CLIP-seq
MIRT2585247	hsa-miR-4690-5p	CLIP-seq
MIRT2585248	hsa-miR-4693-5p	CLIP-seq
MIRT1203752	hsa-miR-4719	CLIP-seq
MIRT2585250	hsa-miR-4744	CLIP-seq
MIRT2585251	hsa-miR-4778-5p	CLIP-seq
MIRT1203755	hsa-miR-4789-3p	CLIP-seq
MIRT1203756	hsa-miR-4795-3p	CLIP-seq
MIRT1203758	hsa-miR-493	CLIP-seq
MIRT1203759	hsa-miR-495	CLIP-seq
MIRT1203788	hsa-miR-502-5p	CLIP-seq
MIRT1203836	hsa-miR-513a-3p	CLIP-seq
MIRT2585255	hsa-miR-518a-3p	CLIP-seq
MIRT2585256	hsa-miR-518b	CLIP-seq
MIRT2585257	hsa-miR-518c	CLIP-seq
MIRT2585258	hsa-miR-518d-3p	CLIP-seq
MIRT2585259	hsa-miR-518f	CLIP-seq
MIRT1203789	hsa-miR-539	CLIP-seq
MIRT2585260	hsa-miR-548aa	CLIP-seq
MIRT2585261	hsa-miR-548ac	CLIP-seq
MIRT2585262	hsa-miR-548ae	CLIP-seq
MIRT2585263	hsa-miR-548aj	CLIP-seq
MIRT2585264	hsa-miR-548am	CLIP-seq
MIRT2585265	hsa-miR-548d-3p	CLIP-seq
MIRT2431801	hsa-miR-548p	CLIP-seq
MIRT2585266	hsa-miR-548x	CLIP-seq
MIRT2585267	hsa-miR-548z	CLIP-seq
MIRT1203760	hsa-miR-569	CLIP-seq
MIRT1203838	hsa-miR-639	CLIP-seq
MIRT2585269	hsa-miR-640	CLIP-seq
MIRT1203761	hsa-miR-641	CLIP-seq
MIRT1203762	hsa-miR-642b	CLIP-seq
MIRT1203763	hsa-miR-656	CLIP-seq
MIRT1203764	hsa-miR-668	CLIP-seq
MIRT1203765	hsa-miR-885-5p	CLIP-seq
MIRT2585270	hsa-miR-892a	CLIP-seq

Show/Hide all (78)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0000266	Process	Mitochondrial fission	TAS	12509422
GO:0000287	Function	Magnesium ion binding	NAS	11017080
GO:0001843	Process	Neural tube closure	IEA
GO:0003924	Function	GTPase activity	IBA
GO:0003924	Function	GTPase activity	IDA	20185555, 27667664, 32228866, 32245890, 32379273, 37612504, 37612506
GO:0003924	Function	GTPase activity	IEA
GO:0003924	Function	GTPase activity	TAS	11017080
GO:0005515	Function	Protein binding	IPI	20436456, 21081504, 21364629, 24282027, 24344202, 28746876, 31046837
GO:0005525	Function	GTP binding	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005737	Component	Cytoplasm	IBA
GO:0005739	Component	Mitochondrion	HTP	34800366
GO:0005739	Component	Mitochondrion	IDA	17545159
GO:0005739	Component	Mitochondrion	IEA
GO:0005741	Component	Mitochondrial outer membrane	IDA	12504110
GO:0005743	Component	Mitochondrial inner membrane	IDA	37612504, 37612506
GO:0005743	Component	Mitochondrial inner membrane	IEA
GO:0005743	Component	Mitochondrial inner membrane	ISS
GO:0005743	Component	Mitochondrial inner membrane	NAS	20436456
GO:0005743	Component	Mitochondrial inner membrane	TAS
GO:0005758	Component	Mitochondrial intermembrane space	IBA
GO:0005758	Component	Mitochondrial intermembrane space	IDA	32228866, 37612504, 37612506
GO:0005758	Component	Mitochondrial intermembrane space	IDA	17008324
GO:0005758	Component	Mitochondrial intermembrane space	IEA
GO:0005758	Component	Mitochondrial intermembrane space	ISS	11847212
GO:0005829	Component	Cytosol	IDA
GO:0005874	Component	Microtubule	IBA
GO:0006915	Process	Apoptotic process	IEA
GO:0007005	Process	Mitochondrion organization	IMP	21149567
GO:0007005	Process	Mitochondrion organization	NAS	11017080
GO:0007007	Process	Inner mitochondrial membrane organization	IDA	12509422
GO:0007007	Process	Inner mitochondrial membrane organization	IEA
GO:0007601	Process	Visual perception	IEA
GO:0007601	Process	Visual perception	IMP	11017080
GO:0008017	Function	Microtubule binding	IBA
GO:0008053	Process	Mitochondrial fusion	IBA
GO:0008053	Process	Mitochondrial fusion	IDA	17545159
GO:0008053	Process	Mitochondrial fusion	IEA
GO:0008053	Process	Mitochondrial fusion	IMP	20185555, 20436456
GO:0008053	Process	Mitochondrial fusion	TAS	12509422
GO:0008289	Function	Lipid binding	IEA
GO:0010821	Process	Regulation of mitochondrion organization	IEA
GO:0016020	Component	Membrane	HDA	19946888
GO:0016020	Component	Membrane	IEA
GO:0016559	Process	Peroxisome fission	IBA
GO:0016787	Function	Hydrolase activity	IEA
GO:0019896	Process	Axonal transport of mitochondrion	TAS	11017080
GO:0030061	Component	Mitochondrial crista	IDA	12504110
GO:0030425	Component	Dendrite	IEA
GO:0030425	Component	Dendrite	ISS	11847212
GO:0031966	Component	Mitochondrial membrane	IBA
GO:0032740	Process	Positive regulation of interleukin-17 production	IEA
GO:0032740	Process	Positive regulation of interleukin-17 production	ISS
GO:0042407	Process	Cristae formation	IDA	32245890
GO:0042407	Process	Cristae formation	IEA
GO:0042407	Process	Cristae formation	IMP	32567732, 33130824
GO:0043066	Process	Negative regulation of apoptotic process	IDA	12509422
GO:0046039	Process	GTP metabolic process	IDA	20185555
GO:0051259	Process	Protein complex oligomerization	IDA	20185555
GO:0061025	Process	Membrane fusion	IEA
GO:0070300	Function	Phosphatidic acid binding	IDA	20185555
GO:0090201	Process	Negative regulation of release of cytochrome c from mitochondria	IEA
GO:0090201	Process	Negative regulation of release of cytochrome c from mitochondria	IMP	21149567
GO:0090398	Process	Cellular senescence	IDA	17545159
GO:0097749	Process	Membrane tubulation	IDA	20185555, 32228866, 37612504, 37612506
GO:0140523	Function	GTPase-dependent fusogenic activity	IDA	28628083, 37612504
GO:0140523	Function	GTPase-dependent fusogenic activity	IEA
GO:0180020	Function	Membrane bending activity	IDA	32228866, 37612504, 37612506
GO:1901612	Function	Cardiolipin binding	IDA	20185555, 28628083, 32228866, 37612504, 37612506
GO:1902236	Process	Negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway	IEA
GO:1902236	Process	Negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway	IGI	23453807
GO:1904115	Component	Axon cytoplasm	IEA
GO:1990627	Process	Mitochondrial inner membrane fusion	IDA	28628083, 31922487, 32228866, 37612504, 37612506
GO:1990627	Process	Mitochondrial inner membrane fusion	IEA
GO:2000330	Process	Positive regulation of T-helper 17 cell lineage commitment	IEA
GO:2000330	Process	Positive regulation of T-helper 17 cell lineage commitment	ISS
GO:2001243	Process	Negative regulation of intrinsic apoptotic signaling pathway	IEA

MIM	HGNC	e!Ensembl
605290	8140	ENSG00000198836

O60313

Protein name

Dynamin-like GTPase OPA1, mitochondrial (EC 3.6.5.5) (Optic atrophy protein 1) [Cleaved into: Dynamin-like GTPase OPA1, long form (L-OPA1); Dynamin-like GTPase OPA1, short form (S-OPA1)]

Protein function

Dynamin-related GTPase that is essential for normal mitochondrial morphology by mediating fusion of the mitochondrial inner membranes, regulating cristae morphology and maintaining respiratory chain function (PubMed:16778770, PubMed:17709429, Pu

PDB

6JTG , 8CT1 , 8CT9 , 8EEW , 8EF7 , 8EFF , 8EFR , 8EFS , 8EFT

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00350	Dynamin_N	291 → 469	Dynamin family	Domain

Tissue specificity

TISSUE SPECIFICITY: Highly expressed in retina (PubMed:11017079, PubMed:11017080, PubMed:11810270). Also expressed in brain, testis, heart and skeletal muscle (PubMed:11810270). Low levels of all isoforms expressed in a variety of tissues (PubMed:11810270

Sequence

MWRLRRAAVACEVCQSLVKHSSGIKGSLPLQKLHLVSRSIYHSHHPTLKLQRPQLRTSFQ
QFSSLTNLPLRKLKFSPIKYGYQPRRNFWPARLATRLLKLRYLILGSAVGGGYTAKKTFD
QWKDMIPDLSEYKWIVPDIVWEIDEYIDFEKIRKALPSSEDLVKLAPDFDKIVESLSLLK
DFFTSGSPEETAFRATDRGSESDKHFRKVSDKEKIDQLQEELLHTQLKYQRILERLEKEN
KELRKLVLQKDDKGIHHRKLKKSLIDMYSEVLDVLSDYDASYNTQDHLPRVVVVGDQSAG
KTSVLEMIAQARIFPRGSGEMMTRSPVKVTLSEGPHHVALFKDSSREFDLTKEEDLAALR
HEIELRMRKNVKEGCTVSPETISLNVKGPGLQRMVLVDLPGVINTVTSGMAPDTKETIFS
ISKAYMQNPNAIILCIQDGSVDAERSIVTDLVSQMDPHGRRTIFVLTKVDLAEKNVASPS
RIQQIIEGKLFPMKALGYFAVVTGKGNSSESIEAIREYEEEFFQNSKLLKTSMLKAHQVT
TRNLSLAVSDCFWKMVRESVEQQADSFKATRFNLETEWKNNYPRLRELDRNELFEKAKNE
ILDEVISLSQVTPKHWEEILQQSLWERVSTHVIENIYLPAAQTMNSGTFNTTVDIKLKQW
TDKQLPNKAVEVAWETLQEEFSRFMTEPKGKEHDDIFDKLKEAVKEESIKRHKWNDFAED
SLRVIQHNALEDRSISDKQQWDAAIYFMEEALQARLKDTENAIENMVGPDWKKRWLYWKN
RTQEQCVHNETKNELEKMLKCNEEHPAYLASDEITTVRKNLESRGVEVDPSLIKDTWHQV
YRRHFLKTALNHCNLCRRGFYYYQRHFVDSELECNDVVLFWRIQRMLAITANTLRQQLTN
TEVRRLEKNVKEVLEDFAEDGEKKIKLLTGKRVQLAEDLKKVREIQEKLDAFIEALHQEK

Sequence length

960

Interactions

View interactions

	KEGG		Reactome
	Mitophagy - animal Spinocerebellar ataxia		Regulation of Apoptosis

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 (20)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
3-Methylglutaconic aciduria type 3	Likely pathogenic; Pathogenic	rs80356530	RCV004798716	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Abortive cerebellar ataxia	Pathogenic; Likely pathogenic	rs794727405, rs80356530, rs2475204678, rs879255593, rs879255595, rs2475206007, rs1553877912, rs1287548904, rs1219753329	RCV005025281 RCV000210745 RCV003138363 RCV000210747 RCV000210744 View all (4 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Auditory neuropathy	Likely pathogenic; Pathogenic	rs886043340, rs2475189674, rs2474872099	RCV003484476 RCV003484494 RCV003484499	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Autosomal dominant optic atrophy classic form	Likely pathogenic; Pathogenic	rs750185470, rs398124303, rs1711513680, rs1721758840, rs2109139435, rs772382178, rs1728905695, rs2109253558, rs2109043749, rs2109138909, rs2474882050, rs2474922093, rs2474788860, rs2474575339, rs2474574768 View all (48 more)	RCV001647169 RCV000180653 RCV001353000 RCV001353002 RCV001375870 View all (58 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Centronuclear myopathy	Likely pathogenic; Pathogenic	rs80356529	RCV004585987	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Dominant hereditary optic atrophy	Pathogenic	rs2475190532	RCV003329494	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Glaucoma, normal tension, susceptibility to	Pathogenic; Likely pathogenic	rs794727405, rs80356530	RCV005025281 RCV002490322	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Mitochondrial disease	Likely pathogenic; Pathogenic	rs80356530, rs80356529, rs387906899, rs398124298, rs1553877864	RCV000508703 RCV000508953 RCV000508763 RCV000508898 RCV000508855	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Mitochondrial DNA depletion syndrome 14 (cardioencephalomyopathic type)	Pathogenic; Likely pathogenic	rs398124303, rs794727405, rs80356530, rs869312995, rs1553877912	RCV004783739 RCV005025281 RCV002490322 RCV000210746 RCV005863220	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Neurodevelopmental disorder	Likely pathogenic; Pathogenic	rs1577228080	RCV001374996	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Ocular impairment	Pathogenic	rs727504059	RCV000578471	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
OPA1-related disorder	Pathogenic; Likely pathogenic	rs398124298, rs2109058985, rs794727392, rs104893752, rs80356530, rs80356529, rs863224906, rs2474578222, rs886041318, rs2475051035, rs2474599159, rs2474788771, rs2474576718, rs761460379, rs1716524583, rs1219753329, rs1711513392 View all (2 more)	RCV004529860 RCV004541988 RCV002228786 RCV004738699 RCV004532291 View all (12 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
OPA1-related optic atrophy with or without extraocular features	Pathogenic	rs104893753	RCV003225922	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Optic atrophy	Pathogenic; Likely pathogenic	rs1732086609, rs1713427542, rs398124299, rs2109268057, rs2109043749, rs2109138909, rs727504060, rs2475135115, rs2474747856, rs1733081846, rs104893752, rs2474865823, rs2474881420, rs794727804, rs80356530 View all (21 more)	RCV004815327 RCV004815328 RCV004815011 RCV004816975 RCV004816978 View all (32 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy	Pathogenic; Likely pathogenic	rs398124303, rs2109015193, rs1724946838, rs2109058985, rs2109011385, rs2109058910, rs794727405, rs794729196, rs80356530, rs121908375, rs121908376, rs80356529, rs879255592, rs2474871431, rs1734162973 View all (9 more)	RCV004786358 RCV001799524 RCV001542571 RCV001542738 RCV001822916 View all (19 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Papillary renal cell carcinoma type 1	Likely pathogenic; Pathogenic	rs80356530	RCV005867725	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Retinal dystrophy	Pathogenic; Likely pathogenic	rs2474747856, rs80356530, rs121908375, rs879255593, rs761460379, rs1732788163	RCV004794611 RCV001073751 RCV004814833 RCV001073476 RCV001075159 RCV001073945 View all (1 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Stargardt disease	Pathogenic	rs794727804	RCV003389462	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Tip-toe gait	Likely pathogenic; Pathogenic	rs863224140, rs80356530	RCV001823088 RCV003319160	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Uterine corpus endometrial carcinoma	Likely pathogenic; Pathogenic	rs747454971	RCV005898705	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (44)

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.
Abnormal brain morphology	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Acute myeloid leukemia	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Auditory neuropathy spectrum disorder	Uncertain significance; Conflicting classifications of pathogenicity	ClinVar Disgenet	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
AUTOSOMAL DOMINANT CEREBELLAR ATAXIA	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOSOMAL DOMINANT OPTIC ATROPHY PLUS SYNDROME	—	GWAS catalog, Orphanet GWAS catalog, Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOSOMAL DOMINANT OPTIC ATROPHY, CLASSIC FORM	—	GenCC, Orphanet GenCC, Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BLEPHAROPTOSIS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Childhood onset hearing loss	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONE-ROD DYSTROPHIES	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cone-rod dystrophy	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DENTAL CARIES	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial pancreatic carcinoma	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LEIGH SYNDROME	—	ClinGen, GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Limb pain	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mildly elevated creatine kinase	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MITOCHONDRIAL DISEASES	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MITOCHONDRIAL DNA DEPLETION SYNDROME 14	—	CTD, ClinVar, Disgenet, GenCC, HPO CTD, ClinVar, Disgenet, GenCC, HPO CTD, ClinVar, Disgenet, GenCC, HPO CTD, ClinVar, Disgenet, GenCC, HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myotonia	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEURODEVELOPMENTAL DISORDERS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OPTIC ATROPHY 1	—	Disgenet, HPO Disgenet, HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OPTIC ATROPHY 1 AND DEAFNESS	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OPTIC ATROPHY PLUS SYNDROME	—	HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OPTIC ATROPHY, AUTOSOMAL DOMINANT	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Optic Atrophy, Dominant	Conflicting classifications of pathogenicity; Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Optic nerve hypoplasia	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOARTHRITIS	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteoporosis	Uncertain significance	ClinVar Disgenet	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Ovarian serous cystadenocarcinoma	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Retinitis pigmentosa	Uncertain significance	ClinVar Disgenet	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
RETINITIS PIGMENTOSA 1	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
STARGARDTS DISEASE	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VENTRICULAR REMODELING	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (1)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Sleep Deprivation	Sleep deprivation	Pubtator	12707284	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

OPA1 (OPA1 mitochondrial dynamin like GTPase)