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

542

Show/Hide Causal Diseases (21)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
3-Methylglutaconic aciduria type 3	Likely pathogenic; Pathogenic	rs80356530	RCV004798716
Abortive cerebellar ataxia	Pathogenic; Likely pathogenic	rs794727405, rs80356530, rs2475204678, rs879255593, rs879255595, rs2475206007, rs1553877912, rs1287548904, rs1219753329	RCV005025281 RCV000210745 RCV003138363 RCV000210747 RCV000210744 RCV003337917 RCV005863220 RCV001196050 RCV001249637
Auditory neuropathy	Likely pathogenic; Pathogenic	rs886043340, rs2475189674, rs2474872099	RCV003484476 RCV003484494 RCV003484499
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 RCV001591808 RCV002052147 RCV002210943 RCV002226810 RCV004763346 RCV002287312 RCV002288384 RCV002289336 RCV002290155 RCV002290233 RCV002291141 RCV005025281 RCV006257372 RCV003988067 RCV002571624 RCV002288784 RCV000005385 RCV000005386 RCV000005387 RCV000005388 RCV000005389 RCV000005390 RCV000005391 RCV000005392 RCV000005393 RCV003137493 RCV000005397 RCV000199194 RCV004786647 RCV003505332 RCV003388890 RCV003447731 RCV003485955 RCV003582175 RCV004527521 RCV004555261 RCV004587650 RCV004586413 RCV002244863 RCV004786281 RCV002464072 RCV000678587 RCV005632423 RCV004787826 RCV005001989 RCV000709838 RCV005863220 RCV000987378 RCV000987380 RCV000987381 RCV000987382 RCV002290506 RCV002287468 RCV002290609 RCV001249637 RCV001253178 RCV001253086 RCV001291943
Centronuclear myopathy	Likely pathogenic; Pathogenic	rs80356529	RCV004585987
Dominant hereditary optic atrophy	Pathogenic	rs2475190532	RCV003329494
Glaucoma, normal tension, susceptibility to	Pathogenic; Likely pathogenic	rs794727405, rs80356530	RCV005025281 RCV002490322
Mitochondrial disease	Likely pathogenic; Pathogenic	rs80356530, rs80356529, rs387906899, rs398124298, rs1553877864	RCV000508703 RCV000508953 RCV000508763 RCV000508898 RCV000508855
Mitochondrial DNA depletion syndrome 14 (cardioencephalomyopathic type)	Pathogenic; Likely pathogenic	rs398124303, rs794727405, rs80356530, rs869312995, rs1553877912	RCV004783739 RCV005025281 RCV002490322 RCV000210746 RCV005863220
Neurodevelopmental disorder	Likely pathogenic; Pathogenic	rs1577228080	RCV001374996
Ocular impairment	Pathogenic	rs727504059	RCV000578471
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 RCV003492285 RCV003987447 RCV004529194 RCV004542968 RCV004527942 RCV004527957 RCV004529338 RCV004534296 RCV005408619 RCV004528380 RCV004538529 RCV004531061
OPA1-related optic atrophy with or without extraocular features	Pathogenic	rs104893753	RCV003225922
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 RCV002255238 RCV004815229 RCV004817039 RCV004818248 RCV004818249 RCV004818250 RCV004818251 RCV004818252 RCV004816301 RCV004814831 RCV004814832 RCV004814834 RCV004814835 RCV004817542 RCV004816329 RCV004816330 RCV004816340 RCV004817164 RCV004818357 RCV004817634 RCV004814921 RCV004816707 RCV001526661 RCV004817752 RCV004817751 RCV004818101 RCV004813759 RCV004813731 RCV004813732 RCV004813733 RCV004813828 RCV004814044
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 RCV001822915 RCV005025281 RCV000184014 RCV001542739 RCV001336297 RCV000005395 RCV000005396 RCV000210742 RCV003582175 RCV004587650 RCV004586413 RCV000023414 RCV000023415 RCV000023416 RCV000023417 RCV005863220 RCV005621019 RCV000853262 RCV001249637
Papillary renal cell carcinoma type 1	Likely pathogenic; Pathogenic	rs80356530	RCV005867725
Retinal dystrophy	Pathogenic; Likely pathogenic	rs2474747856, rs80356530, rs121908375, rs879255593, rs761460379, rs1732788163	RCV004794611 RCV001073751 RCV004814833 RCV001073476 RCV001075159 RCV001073945
See cases	Likely pathogenic; Pathogenic	rs80356530	RCV004584316
Stargardt disease	Pathogenic	rs794727804	RCV003389462
Tip-toe gait	Likely pathogenic; Pathogenic	rs863224140, rs80356530	RCV001823088 RCV003319160
Uterine corpus endometrial carcinoma	Likely pathogenic; Pathogenic	rs747454971	RCV005898705

Show/Hide Unknown Diseases (25)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
-	no classification for the single variant	rs166850	-
Abnormal brain morphology	Conflicting classifications of pathogenicity	rs780333963	RCV000454141
Acute myeloid leukemia	Benign	rs10419	RCV005897653
Auditory neuropathy spectrum disorder	Uncertain significance; Conflicting classifications of pathogenicity	rs757786063, rs1553877946	RCV003984867 RCV003984843
Cervical cancer	Benign; Likely benign	rs34307082, rs145646386	RCV005886590 RCV005904329
Childhood onset hearing loss	Conflicting classifications of pathogenicity	rs145710079	RCV001328034
Cholangiocarcinoma	Benign; Likely benign	rs34307082, rs78911544	RCV005886595 RCV005916104
Colon adenocarcinoma	Uncertain significance	rs752337536	RCV005926795
Colorectal cancer	Benign	rs34307082	RCV005886591
Cone-rod dystrophy	Uncertain significance	rs2474872043	RCV003389591
Familial pancreatic carcinoma	Likely benign	rs78911544	RCV005916102
Gastric cancer	Benign; Likely benign	rs202098728, rs78911544	RCV005909549 RCV005916103
Limb pain	Uncertain significance	rs757018661	RCV000626990
Lung cancer	Benign; Likely benign	rs34307082, rs181194653	RCV005886596 RCV005927324
Malignant tumor of esophagus	Benign; Likely benign	rs34307082, rs202098728, rs78911544, rs181194653	RCV005886589 RCV005909548 RCV005916101 RCV005929782
Melanoma	Benign; Likely benign	rs34307082, rs144898877	RCV005886594 RCV005886733
Mildly elevated creatine kinase	Uncertain significance	rs757018661	RCV000626990
Myotonia	Uncertain significance	rs757018661	RCV000626990
Optic Atrophy, Dominant	Conflicting classifications of pathogenicity; Uncertain significance	rs761286590, rs886058260	RCV000397080 RCV000383346
Optic nerve hypoplasia	Conflicting classifications of pathogenicity	rs143319805	RCV000677258
Osteoporosis	Uncertain significance	rs757018661	RCV000626990
Ovarian serous cystadenocarcinoma	Benign; Likely benign	rs34307082, rs116806904	RCV005886593 RCV005916263
Retinitis pigmentosa	Uncertain significance	rs983636363	RCV003389595
Sarcoma	Benign; Likely benign	rs34307082, rs116806904, rs181194653	RCV005886592 RCV005916262 RCV005929783
Uterine carcinosarcoma	Benign	rs13070610	RCV005902163

Show/Hide Text Mining Associations (108)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Adenocarcinoma of Lung	Associate	36573240
adult multisystem inflammatory disease COVID 19 related	Associate	18158317
Altitude Sickness	Associate	29357502
Aortic Aneurysm Familial Abdominal 1	Associate	30252181
Ataxia	Associate	18158317, 31673222
Atrophy	Associate	12488262
Auditory neuropathy	Associate	25564500, 31673222, 38456936
Autism Spectrum Disorder	Associate	23333625
Barth Syndrome	Associate	35676289
Behr syndrome	Associate	27879217, 32883255
Bipolar Disorder	Associate	28463235
Blindness	Associate	14970223, 36075118
Carcinoma Hepatocellular	Associate	33915505
Carcinoma Non Small Cell Lung	Associate	36573240
Carcinoma Squamous Cell	Associate	19607727
Cardiomyopathy Hypertrophic	Associate	26561570
Charcot Marie Tooth disease Type 2A	Associate	22433900
Costeff optic atrophy syndrome	Associate	24970096, 31673222, 34006618
Cytochrome c Oxidase Deficiency	Associate	20157015, 20484224
Deaf Blind Disorders	Associate	18195150
Deafness	Associate	19733158, 21623591, 36075118
Deafness Autosomal Dominant 1	Associate	16648378
Death Sudden	Associate	37995443
Dementia	Associate	25820230
Diabetes Gestational	Associate	32144130
Diabetic Cardiomyopathies	Associate	34418601
Disease	Associate	29604226
Epilepsy	Associate	37995443
Eye Diseases	Associate	29604226
Ganglion Cysts	Associate	23138851
Genetic Diseases Inborn	Associate	14970223, 21036400, 29952689
Glaucoma	Associate	19581274
Glaucoma Open Angle	Associate	16785854, 21552501
Glioblastoma	Associate	36838582
Glioma	Associate	30403311
Hearing Loss	Associate	16648378, 25564500, 27860320, 29952689, 34573359, 36075118
Hearing Loss Sensorineural	Associate	18158317
Heredodegenerative Disorders Nervous System	Associate	29604226
Huntington Disease	Associate	21257639
Hyperglycemia	Associate	34418601
Hypoxia	Associate	29357502, 34080026
Hypoxia Brain	Associate	29357502
Kallmann Syndrome	Associate	18158317
Kearns Sayre Syndrome	Associate	27858935
Konigsmark Knox Hussels syndrome	Associate	27858935
Leukemia	Associate	36739349
Low Tension Glaucoma	Associate	12543739, 14551537, 16785854, 19581274
Lung Neoplasms	Associate	36573240, 36806050, 36809297
Macular Edema	Associate	24369534
Melanoma	Associate	40141318
Mitochondrial cytopathy	Associate	18158317
Mitochondrial Diseases	Associate	14970223, 19664747, 20157015, 22800932, 25112877, 27495975, 28378518, 28494813, 28630277, 29081403, 29604226, 30395865, 31875567, 33251885, 33562813 View all (7 more)
Mitochondrial Diseases	Inhibit	23138851
Mitochondrial Encephalomyopathies	Associate	26561570
Mitochondrial Myopathies	Associate	18158317, 30395865
Mitochondrial Myopathy with a Defect in Mitochondrial Protein Transport	Associate	19325939, 31875567
Multiple Sclerosis	Associate	20157015
Multiple System Atrophy	Associate	18195150, 23387428, 25820230, 28378518
Muscular Diseases	Associate	36075118
Myopathy with Giant Abnormal Mitochondria	Associate	12707284
Necrosis	Associate	30403311
Neoplasms	Associate	25112877, 30403311, 30859632, 36573240, 36806050, 36809297, 37643767, 37980164
Nerve Degeneration	Associate	14970223, 20484224, 23138851, 29604226, 38101398
Nervous System Diseases	Associate	20157015, 27860320
Neurodegenerative Diseases	Associate	25820230, 28494813, 30252181, 30859632, 32600459
Neurologic Manifestations	Associate	23387428, 31500643, 34014035
Nevus Pigmented	Associate	31037127
Ophthalmoplegia Chronic Progressive External	Associate	18158317, 18195150, 24086434, 25820230
Optic Atrophies Hereditary	Associate	19319978, 23401657, 27974645, 28081242, 33251885, 34573359
Optic Atrophy	Associate	12543739, 12707284, 14552656, 14970223, 16648378, 16735988, 18158317, 19319978, 19325939, 19619285, 19772191, 20157015, 20417570, 21036400, 21378995 View all (33 more)
Optic atrophy 1 and deafness	Associate	29034899, 29340645
Optic Atrophy 7	Associate	36075118
Optic Atrophy Autosomal Dominant	Associate	12036970, 12488262, 15948788, 16617242, 16648378, 18496845, 18783614, 19112530, 19319978, 19325939, 19581274, 19619285, 19900585, 20157369, 20417570 View all (61 more)
Optic Atrophy Hereditary Leber	Associate	19319978, 19619285, 21036400, 21552501, 28081242, 32855858, 34573359
Optic Nerve Diseases	Associate	18158317, 18360822, 19319978, 19325939, 19581274, 19900585, 21457585, 21552501, 25820230, 27265430, 28848318, 31500643, 32219868, 32883255
Optic Nerve Hypoplasia	Associate	20157015, 32040484, 36306327
Optic Nerve Hypoplasia Bilateral	Associate	18360822, 28848318
Paraparesis Spastic	Associate	21828197, 35534703
Parkinson Disease	Associate	31875567, 36611869
Parkinson Disease Mitochondrial	Associate	29604226
Parkinson Disease Secondary	Associate	25820230, 29604226, 30252181
Peripheral Nervous System Diseases	Associate	21036400
Polyneuropathies	Associate	18158317
Pre Eclampsia	Stimulate	27573305
Primary visual agnosia	Associate	21036400
Pulmonary Disease Chronic Obstructive	Associate	38110986
Renal Insufficiency	Associate	19112530, 21036400, 21828197
Reperfusion Injury	Associate	35047108
Reperfusion Injury	Inhibit	37253410
Retinal Diseases	Associate	32423767
Retinitis	Associate	21378995, 28125838, 38101398
Scotoma	Associate	28848318
Sjogren's Syndrome	Associate	35359935
Sleep Deprivation	Associate	20436456, 22433900, 22800932, 23138851, 24176854, 25112877, 27495975, 27974645, 29604226, 30859632, 32092105, 32600459, 34014035
Small Cell Lung Carcinoma	Stimulate	36809297
Smooth Muscle Tumor	Associate	36675156
Spastic Ataxia	Associate	32600459
Spastic Paraplegia Hereditary	Associate	27879217
Speech Disorders	Associate	25564500
Spinocerebellar ataxia 28	Associate	32600459
Sudden Infant Death	Associate	37995443
Tooth Loss	Associate	35652445
Triple Negative Breast Neoplasms	Associate	36813854
Urinary Incontinence	Associate	35534703
Vestibular Diseases	Associate	31673222
Visceral myopathy familial external ophthalmoplegia	Associate	19772189
Vision Disorders	Associate	21731710, 28720802, 32883255
Wounds and Injuries	Associate	23138851

OPA1 (OPA1 mitochondrial dynamin like GTPase)