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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID	114327
Gene name	EF-hand domain containing 1
Gene symbol	EFHC1
Synonyms (NCBI Gene)	EJM1POC9RIB72dJ304B14.2
Chromosome	6
Chromosome location	6p12.2
Summary	This gene encodes an EF-hand-containing calcium binding protein. The encoded protein likely plays a role in calcium homeostasis. Mutations in this gene have been associated with susceptibility to juvenile myoclonic epilepsy and juvenile absence epilepsy.

Show/Hide all (23)

SNP ID	Visualize variation	Clinical significance	Consequence
rs59794069	ATATATATATAT>-,AT,ATAT,ATATAT,ATATATAT,ATATATATAT,ATATATATATATAT,ATATATATATATATAT,ATATATATATATATATAT,ATATATATATATATATATAT,ATATATATATATATATATATAT,ATATATATATATATATATATATAT,ATATATATATATATATATATATATAT,ATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATA	Likely-benign, uncertain-significance, conflicting-interpretations-of-pathogenicity	3 prime UTR variant, non coding transcript variant
rs79761183	G>A,C	Benign-likely-benign, risk-factor, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant, non coding transcript variant
rs137852776	T>C	Conflicting-interpretations-of-pathogenicity, risk-factor	Missense variant, non coding transcript variant, coding sequence variant
rs137852777	G>A	Pathogenic, risk-factor	Missense variant, non coding transcript variant, coding sequence variant
rs137852778	G>A,T	Risk-factor	Missense variant, non coding transcript variant, coding sequence variant
rs137852779	A>G	Risk-factor	Missense variant, non coding transcript variant, coding sequence variant
rs137852780	G>A	Risk-factor	Missense variant, non coding transcript variant, coding sequence variant
rs137852781	C>T	Risk-factor	Non coding transcript variant, stop gained, coding sequence variant
rs139197513	C>T	Conflicting-interpretations-of-pathogenicity, likely-benign	Missense variant, non coding transcript variant, coding sequence variant
rs140429638	G>A	Conflicting-interpretations-of-pathogenicity, benign, uncertain-significance	Non coding transcript variant, coding sequence variant, synonymous variant
rs142458862	T>G	Conflicting-interpretations-of-pathogenicity	Missense variant, non coding transcript variant, coding sequence variant
rs149055334	C>A	Risk-factor, benign-likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, non coding transcript variant, missense variant
rs149998588	C>T	Pathogenic, conflicting-interpretations-of-pathogenicity	Coding sequence variant, stop gained, non coding transcript variant
rs200435907	C>T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, non coding transcript variant, missense variant
rs200510672	G>C	Conflicting-interpretations-of-pathogenicity	Genic upstream transcript variant, coding sequence variant, non coding transcript variant, upstream transcript variant, missense variant
rs369503191	A>C	Benign-likely-benign, uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, non coding transcript variant, coding sequence variant
rs371151471	C>T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, non coding transcript variant, coding sequence variant
rs372507832	C>G	Conflicting-interpretations-of-pathogenicity	Intron variant
rs377227885	G>A,C	Uncertain-significance, benign, conflicting-interpretations-of-pathogenicity	Synonymous variant, non coding transcript variant, coding sequence variant
rs377732929	G>A,C	Conflicting-interpretations-of-pathogenicity	Missense variant, non coding transcript variant, coding sequence variant
rs796052414	C>G,T	Pathogenic, uncertain-significance	Non coding transcript variant, stop gained, missense variant, coding sequence variant
rs796052421	T>-	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs1057521631	A>T	Likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant

459

Show/Hide all (459)

miRTarBase ID	miRNA	Experiments	Reference
MIRT050971	hsa-miR-17-5p	CLASH	23622248
MIRT509176	hsa-miR-1277-5p	HITS-CLIP	21572407
MIRT509175	hsa-miR-6758-5p	HITS-CLIP	21572407
MIRT509174	hsa-miR-6856-5p	HITS-CLIP	21572407
MIRT509173	hsa-miR-3163	HITS-CLIP	21572407
MIRT509171	hsa-miR-3668	HITS-CLIP	21572407
MIRT509170	hsa-miR-7852-3p	HITS-CLIP	21572407
MIRT509168	hsa-miR-6832-5p	HITS-CLIP	21572407
MIRT509169	hsa-miR-4732-5p	HITS-CLIP	21572407
MIRT569357	hsa-miR-4753-5p	PAR-CLIP	20371350
MIRT569356	hsa-miR-3922-5p	PAR-CLIP	20371350
MIRT569355	hsa-miR-3155a	PAR-CLIP	20371350
MIRT569354	hsa-miR-3155b	PAR-CLIP	20371350
MIRT569353	hsa-miR-484	PAR-CLIP	20371350
MIRT569352	hsa-miR-3183	PAR-CLIP	20371350
MIRT569351	hsa-miR-4723-3p	PAR-CLIP	20371350
MIRT569350	hsa-miR-6769b-3p	PAR-CLIP	20371350
MIRT569349	hsa-miR-6734-3p	PAR-CLIP	20371350
MIRT569348	hsa-miR-3667-3p	PAR-CLIP	20371350
MIRT569346	hsa-miR-7110-3p	PAR-CLIP	20371350
MIRT569344	hsa-miR-4755-3p	PAR-CLIP	20371350
MIRT569345	hsa-miR-7111-3p	PAR-CLIP	20371350
MIRT569343	hsa-miR-6780a-3p	PAR-CLIP	20371350
MIRT569342	hsa-miR-6881-3p	PAR-CLIP	20371350
MIRT569340	hsa-miR-513c-5p	PAR-CLIP	20371350
MIRT569339	hsa-miR-514b-5p	PAR-CLIP	20371350
MIRT569357	hsa-miR-4753-5p	PAR-CLIP	20371350
MIRT569356	hsa-miR-3922-5p	PAR-CLIP	20371350
MIRT569355	hsa-miR-3155a	PAR-CLIP	20371350
MIRT569354	hsa-miR-3155b	PAR-CLIP	20371350
MIRT569353	hsa-miR-484	PAR-CLIP	20371350
MIRT569352	hsa-miR-3183	PAR-CLIP	20371350
MIRT569351	hsa-miR-4723-3p	PAR-CLIP	20371350
MIRT569350	hsa-miR-6769b-3p	PAR-CLIP	20371350
MIRT569349	hsa-miR-6734-3p	PAR-CLIP	20371350
MIRT569348	hsa-miR-3667-3p	PAR-CLIP	20371350
MIRT569347	hsa-miR-520f-5p	PAR-CLIP	20371350
MIRT569346	hsa-miR-7110-3p	PAR-CLIP	20371350
MIRT569344	hsa-miR-4755-3p	PAR-CLIP	20371350
MIRT569345	hsa-miR-7111-3p	PAR-CLIP	20371350
MIRT569343	hsa-miR-6780a-3p	PAR-CLIP	20371350
MIRT569342	hsa-miR-6881-3p	PAR-CLIP	20371350
MIRT569341	hsa-miR-6868-3p	PAR-CLIP	20371350
MIRT569340	hsa-miR-513c-5p	PAR-CLIP	20371350
MIRT569339	hsa-miR-514b-5p	PAR-CLIP	20371350
MIRT509176	hsa-miR-1277-5p	PAR-CLIP	21572407
MIRT509175	hsa-miR-6758-5p	PAR-CLIP	21572407
MIRT509174	hsa-miR-6856-5p	PAR-CLIP	21572407
MIRT509173	hsa-miR-3163	PAR-CLIP	21572407
MIRT509172	hsa-miR-5011-5p	PAR-CLIP	21572407
MIRT509171	hsa-miR-3668	PAR-CLIP	21572407
MIRT509170	hsa-miR-7852-3p	PAR-CLIP	21572407
MIRT509168	hsa-miR-6832-5p	PAR-CLIP	21572407
MIRT509169	hsa-miR-4732-5p	PAR-CLIP	21572407
MIRT509167	hsa-miR-190a-3p	PAR-CLIP	21572407
MIRT509176	hsa-miR-1277-5p	PAR-CLIP	23446348
MIRT516259	hsa-miR-5580-3p	PAR-CLIP	23446348
MIRT509175	hsa-miR-6758-5p	PAR-CLIP	23446348
MIRT509174	hsa-miR-6856-5p	PAR-CLIP	23446348
MIRT509173	hsa-miR-3163	PAR-CLIP	23446348
MIRT509171	hsa-miR-3668	PAR-CLIP	23446348
MIRT509170	hsa-miR-7852-3p	PAR-CLIP	23446348
MIRT509168	hsa-miR-6832-5p	PAR-CLIP	23446348
MIRT509169	hsa-miR-4732-5p	PAR-CLIP	23446348
MIRT516258	hsa-miR-3177-5p	PAR-CLIP	23446348
MIRT516257	hsa-miR-493-5p	PAR-CLIP	23446348
MIRT509176	hsa-miR-1277-5p	PAR-CLIP	23446348
MIRT509175	hsa-miR-6758-5p	PAR-CLIP	23446348
MIRT509174	hsa-miR-6856-5p	PAR-CLIP	23446348
MIRT509173	hsa-miR-3163	PAR-CLIP	23446348
MIRT509172	hsa-miR-5011-5p	PAR-CLIP	23446348
MIRT509171	hsa-miR-3668	PAR-CLIP	23446348
MIRT509170	hsa-miR-7852-3p	PAR-CLIP	23446348
MIRT509168	hsa-miR-6832-5p	PAR-CLIP	23446348
MIRT509169	hsa-miR-4732-5p	PAR-CLIP	23446348
MIRT509167	hsa-miR-190a-3p	PAR-CLIP	23446348
MIRT509176	hsa-miR-1277-5p	HITS-CLIP	21572407
MIRT509175	hsa-miR-6758-5p	HITS-CLIP	21572407
MIRT509174	hsa-miR-6856-5p	HITS-CLIP	21572407
MIRT509173	hsa-miR-3163	HITS-CLIP	21572407
MIRT509171	hsa-miR-3668	HITS-CLIP	21572407
MIRT509170	hsa-miR-7852-3p	HITS-CLIP	21572407
MIRT509168	hsa-miR-6832-5p	HITS-CLIP	21572407
MIRT509169	hsa-miR-4732-5p	HITS-CLIP	21572407
MIRT569357	hsa-miR-4753-5p	PAR-CLIP	20371350
MIRT569356	hsa-miR-3922-5p	PAR-CLIP	20371350
MIRT569355	hsa-miR-3155a	PAR-CLIP	20371350
MIRT569354	hsa-miR-3155b	PAR-CLIP	20371350
MIRT569353	hsa-miR-484	PAR-CLIP	20371350
MIRT569352	hsa-miR-3183	PAR-CLIP	20371350
MIRT569351	hsa-miR-4723-3p	PAR-CLIP	20371350
MIRT569350	hsa-miR-6769b-3p	PAR-CLIP	20371350
MIRT569349	hsa-miR-6734-3p	PAR-CLIP	20371350
MIRT569348	hsa-miR-3667-3p	PAR-CLIP	20371350
MIRT569346	hsa-miR-7110-3p	PAR-CLIP	20371350
MIRT569344	hsa-miR-4755-3p	PAR-CLIP	20371350
MIRT569345	hsa-miR-7111-3p	PAR-CLIP	20371350
MIRT569343	hsa-miR-6780a-3p	PAR-CLIP	20371350
MIRT569342	hsa-miR-6881-3p	PAR-CLIP	20371350
MIRT569340	hsa-miR-513c-5p	PAR-CLIP	20371350
MIRT569339	hsa-miR-514b-5p	PAR-CLIP	20371350
MIRT569357	hsa-miR-4753-5p	PAR-CLIP	20371350
MIRT569356	hsa-miR-3922-5p	PAR-CLIP	20371350
MIRT569355	hsa-miR-3155a	PAR-CLIP	20371350
MIRT569354	hsa-miR-3155b	PAR-CLIP	20371350
MIRT569353	hsa-miR-484	PAR-CLIP	20371350
MIRT569352	hsa-miR-3183	PAR-CLIP	20371350
MIRT569351	hsa-miR-4723-3p	PAR-CLIP	20371350
MIRT569350	hsa-miR-6769b-3p	PAR-CLIP	20371350
MIRT569349	hsa-miR-6734-3p	PAR-CLIP	20371350
MIRT569348	hsa-miR-3667-3p	PAR-CLIP	20371350
MIRT569347	hsa-miR-520f-5p	PAR-CLIP	20371350
MIRT569346	hsa-miR-7110-3p	PAR-CLIP	20371350
MIRT569344	hsa-miR-4755-3p	PAR-CLIP	20371350
MIRT569345	hsa-miR-7111-3p	PAR-CLIP	20371350
MIRT569343	hsa-miR-6780a-3p	PAR-CLIP	20371350
MIRT569342	hsa-miR-6881-3p	PAR-CLIP	20371350
MIRT569341	hsa-miR-6868-3p	PAR-CLIP	20371350
MIRT569340	hsa-miR-513c-5p	PAR-CLIP	20371350
MIRT569339	hsa-miR-514b-5p	PAR-CLIP	20371350
MIRT509176	hsa-miR-1277-5p	PAR-CLIP	21572407
MIRT509175	hsa-miR-6758-5p	PAR-CLIP	21572407
MIRT509174	hsa-miR-6856-5p	PAR-CLIP	21572407
MIRT509173	hsa-miR-3163	PAR-CLIP	21572407
MIRT509172	hsa-miR-5011-5p	PAR-CLIP	21572407
MIRT509171	hsa-miR-3668	PAR-CLIP	21572407
MIRT509170	hsa-miR-7852-3p	PAR-CLIP	21572407
MIRT509168	hsa-miR-6832-5p	PAR-CLIP	21572407
MIRT509169	hsa-miR-4732-5p	PAR-CLIP	21572407
MIRT509167	hsa-miR-190a-3p	PAR-CLIP	21572407
MIRT509176	hsa-miR-1277-5p	PAR-CLIP	23446348
MIRT516259	hsa-miR-5580-3p	PAR-CLIP	23446348
MIRT509175	hsa-miR-6758-5p	PAR-CLIP	23446348
MIRT509174	hsa-miR-6856-5p	PAR-CLIP	23446348
MIRT509173	hsa-miR-3163	PAR-CLIP	23446348
MIRT509171	hsa-miR-3668	PAR-CLIP	23446348
MIRT509170	hsa-miR-7852-3p	PAR-CLIP	23446348
MIRT509168	hsa-miR-6832-5p	PAR-CLIP	23446348
MIRT509169	hsa-miR-4732-5p	PAR-CLIP	23446348
MIRT516258	hsa-miR-3177-5p	PAR-CLIP	23446348
MIRT516257	hsa-miR-493-5p	PAR-CLIP	23446348
MIRT509176	hsa-miR-1277-5p	PAR-CLIP	23446348
MIRT509175	hsa-miR-6758-5p	PAR-CLIP	23446348
MIRT509174	hsa-miR-6856-5p	PAR-CLIP	23446348
MIRT509173	hsa-miR-3163	PAR-CLIP	23446348
MIRT509172	hsa-miR-5011-5p	PAR-CLIP	23446348
MIRT509171	hsa-miR-3668	PAR-CLIP	23446348
MIRT509170	hsa-miR-7852-3p	PAR-CLIP	23446348
MIRT509168	hsa-miR-6832-5p	PAR-CLIP	23446348
MIRT509169	hsa-miR-4732-5p	PAR-CLIP	23446348
MIRT509167	hsa-miR-190a-3p	PAR-CLIP	23446348
MIRT953739	hsa-miR-106a	CLIP-seq
MIRT953740	hsa-miR-106b	CLIP-seq
MIRT953741	hsa-miR-1207-3p	CLIP-seq
MIRT953742	hsa-miR-1225-3p	CLIP-seq
MIRT953743	hsa-miR-1233	CLIP-seq
MIRT953744	hsa-miR-128	CLIP-seq
MIRT953745	hsa-miR-1285	CLIP-seq
MIRT953746	hsa-miR-1286	CLIP-seq
MIRT953747	hsa-miR-1297	CLIP-seq
MIRT953748	hsa-miR-1301	CLIP-seq
MIRT953749	hsa-miR-145	CLIP-seq
MIRT953750	hsa-miR-17	CLIP-seq
MIRT953751	hsa-miR-1827	CLIP-seq
MIRT953752	hsa-miR-18a	CLIP-seq
MIRT953753	hsa-miR-18b	CLIP-seq
MIRT953754	hsa-miR-20a	CLIP-seq
MIRT953755	hsa-miR-20b	CLIP-seq
MIRT953756	hsa-miR-219-2-3p	CLIP-seq
MIRT953757	hsa-miR-24	CLIP-seq
MIRT953758	hsa-miR-2467-5p	CLIP-seq
MIRT953759	hsa-miR-26a	CLIP-seq
MIRT953760	hsa-miR-26b	CLIP-seq
MIRT953761	hsa-miR-2964a-3p	CLIP-seq
MIRT953762	hsa-miR-31	CLIP-seq
MIRT953763	hsa-miR-3135b	CLIP-seq
MIRT953764	hsa-miR-3187-5p	CLIP-seq
MIRT953765	hsa-miR-3188	CLIP-seq
MIRT953766	hsa-miR-3192	CLIP-seq
MIRT953767	hsa-miR-3194-3p	CLIP-seq
MIRT953768	hsa-miR-3200-5p	CLIP-seq
MIRT953769	hsa-miR-326	CLIP-seq
MIRT953770	hsa-miR-330-3p	CLIP-seq
MIRT953771	hsa-miR-330-5p	CLIP-seq
MIRT953772	hsa-miR-3609	CLIP-seq
MIRT953773	hsa-miR-3612	CLIP-seq
MIRT953774	hsa-miR-3613-3p	CLIP-seq
MIRT953775	hsa-miR-3614-5p	CLIP-seq
MIRT953776	hsa-miR-3616-5p	CLIP-seq
MIRT953777	hsa-miR-3647-5p	CLIP-seq
MIRT953778	hsa-miR-3689a-3p	CLIP-seq
MIRT953779	hsa-miR-3689c	CLIP-seq
MIRT953780	hsa-miR-3907	CLIP-seq
MIRT953781	hsa-miR-3929	CLIP-seq
MIRT953782	hsa-miR-3938	CLIP-seq
MIRT953783	hsa-miR-3975	CLIP-seq
MIRT953784	hsa-miR-4284	CLIP-seq
MIRT953785	hsa-miR-4294	CLIP-seq
MIRT953786	hsa-miR-4314	CLIP-seq
MIRT953787	hsa-miR-4419b	CLIP-seq
MIRT953788	hsa-miR-4422	CLIP-seq
MIRT953789	hsa-miR-4433	CLIP-seq
MIRT953790	hsa-miR-4443	CLIP-seq
MIRT953791	hsa-miR-4459	CLIP-seq
MIRT953792	hsa-miR-4465	CLIP-seq
MIRT953793	hsa-miR-4478	CLIP-seq
MIRT953794	hsa-miR-4493	CLIP-seq
MIRT953795	hsa-miR-4496	CLIP-seq
MIRT953796	hsa-miR-4505	CLIP-seq
MIRT953797	hsa-miR-4646-5p	CLIP-seq
MIRT953798	hsa-miR-4649-3p	CLIP-seq
MIRT953799	hsa-miR-4660	CLIP-seq
MIRT953800	hsa-miR-4685-5p	CLIP-seq
MIRT953801	hsa-miR-4711-3p	CLIP-seq
MIRT953802	hsa-miR-4712-5p	CLIP-seq
MIRT953803	hsa-miR-4722-5p	CLIP-seq
MIRT953804	hsa-miR-4728-5p	CLIP-seq
MIRT953805	hsa-miR-4735-3p	CLIP-seq
MIRT953806	hsa-miR-4772-3p	CLIP-seq
MIRT953807	hsa-miR-4795-5p	CLIP-seq
MIRT953808	hsa-miR-4796-3p	CLIP-seq
MIRT953809	hsa-miR-485-5p	CLIP-seq
MIRT953810	hsa-miR-490-3p	CLIP-seq
MIRT953811	hsa-miR-5047	CLIP-seq
MIRT953812	hsa-miR-519d	CLIP-seq
MIRT953813	hsa-miR-548ah	CLIP-seq
MIRT953814	hsa-miR-573	CLIP-seq
MIRT953815	hsa-miR-592	CLIP-seq
MIRT953816	hsa-miR-599	CLIP-seq
MIRT953817	hsa-miR-607	CLIP-seq
MIRT953818	hsa-miR-612	CLIP-seq
MIRT953819	hsa-miR-619	CLIP-seq
MIRT953820	hsa-miR-649	CLIP-seq
MIRT953821	hsa-miR-650	CLIP-seq
MIRT953822	hsa-miR-665	CLIP-seq
MIRT953823	hsa-miR-770-5p	CLIP-seq
MIRT953824	hsa-miR-93	CLIP-seq
MIRT953825	hsa-miR-940	CLIP-seq
MIRT953826	hsa-miR-1193	CLIP-seq
MIRT953827	hsa-miR-122	CLIP-seq
MIRT953742	hsa-miR-1225-3p	CLIP-seq
MIRT953743	hsa-miR-1233	CLIP-seq
MIRT953828	hsa-miR-1273f	CLIP-seq
MIRT953829	hsa-miR-1287	CLIP-seq
MIRT953830	hsa-miR-1289	CLIP-seq
MIRT953831	hsa-miR-129-5p	CLIP-seq
MIRT953832	hsa-miR-1304	CLIP-seq
MIRT953833	hsa-miR-143	CLIP-seq
MIRT953758	hsa-miR-2467-5p	CLIP-seq
MIRT953765	hsa-miR-3188	CLIP-seq
MIRT953767	hsa-miR-3194-3p	CLIP-seq
MIRT953834	hsa-miR-3198	CLIP-seq
MIRT953775	hsa-miR-3614-5p	CLIP-seq
MIRT953776	hsa-miR-3616-5p	CLIP-seq
MIRT953777	hsa-miR-3647-5p	CLIP-seq
MIRT953835	hsa-miR-3652	CLIP-seq
MIRT953836	hsa-miR-3675-3p	CLIP-seq
MIRT953778	hsa-miR-3689a-3p	CLIP-seq
MIRT953779	hsa-miR-3689c	CLIP-seq
MIRT953782	hsa-miR-3938	CLIP-seq
MIRT953783	hsa-miR-3975	CLIP-seq
MIRT953837	hsa-miR-4282	CLIP-seq
MIRT953785	hsa-miR-4294	CLIP-seq
MIRT953838	hsa-miR-4309	CLIP-seq
MIRT953839	hsa-miR-431	CLIP-seq
MIRT953840	hsa-miR-4430	CLIP-seq
MIRT953789	hsa-miR-4433	CLIP-seq
MIRT953841	hsa-miR-4534	CLIP-seq
MIRT953798	hsa-miR-4649-3p	CLIP-seq
MIRT953842	hsa-miR-4708-5p	CLIP-seq
MIRT953804	hsa-miR-4728-5p	CLIP-seq
MIRT953843	hsa-miR-4770	CLIP-seq
MIRT953807	hsa-miR-4795-5p	CLIP-seq
MIRT953809	hsa-miR-485-5p	CLIP-seq
MIRT953810	hsa-miR-490-3p	CLIP-seq
MIRT953814	hsa-miR-573	CLIP-seq
MIRT953844	hsa-miR-610	CLIP-seq
MIRT953819	hsa-miR-619	CLIP-seq
MIRT953820	hsa-miR-649	CLIP-seq
MIRT953822	hsa-miR-665	CLIP-seq
MIRT953845	hsa-miR-924	CLIP-seq
MIRT953790	hsa-miR-4443	CLIP-seq
MIRT1982369	hsa-miR-103a	CLIP-seq
MIRT1982370	hsa-miR-107	CLIP-seq
MIRT953826	hsa-miR-1193	CLIP-seq
MIRT953741	hsa-miR-1207-3p	CLIP-seq
MIRT953827	hsa-miR-122	CLIP-seq
MIRT953742	hsa-miR-1225-3p	CLIP-seq
MIRT1982371	hsa-miR-1228	CLIP-seq
MIRT953743	hsa-miR-1233	CLIP-seq
MIRT953745	hsa-miR-1285	CLIP-seq
MIRT953829	hsa-miR-1287	CLIP-seq
MIRT953748	hsa-miR-1301	CLIP-seq
MIRT953832	hsa-miR-1304	CLIP-seq
MIRT953757	hsa-miR-24	CLIP-seq
MIRT953758	hsa-miR-2467-5p	CLIP-seq
MIRT953763	hsa-miR-3135b	CLIP-seq
MIRT953764	hsa-miR-3187-5p	CLIP-seq
MIRT953765	hsa-miR-3188	CLIP-seq
MIRT1982372	hsa-miR-3199	CLIP-seq
MIRT1982373	hsa-miR-329	CLIP-seq
MIRT953773	hsa-miR-3612	CLIP-seq
MIRT1982374	hsa-miR-362-3p	CLIP-seq
MIRT953835	hsa-miR-3652	CLIP-seq
MIRT1982375	hsa-miR-3661	CLIP-seq
MIRT1982376	hsa-miR-3670	CLIP-seq
MIRT1982377	hsa-miR-3672	CLIP-seq
MIRT1982378	hsa-miR-3914	CLIP-seq
MIRT953781	hsa-miR-3929	CLIP-seq
MIRT1982379	hsa-miR-3941	CLIP-seq
MIRT1982380	hsa-miR-3974	CLIP-seq
MIRT953783	hsa-miR-3975	CLIP-seq
MIRT1982381	hsa-miR-4269	CLIP-seq
MIRT953784	hsa-miR-4284	CLIP-seq
MIRT953839	hsa-miR-431	CLIP-seq
MIRT953787	hsa-miR-4419b	CLIP-seq
MIRT953840	hsa-miR-4430	CLIP-seq
MIRT953789	hsa-miR-4433	CLIP-seq
MIRT1982382	hsa-miR-4438	CLIP-seq
MIRT953790	hsa-miR-4443	CLIP-seq
MIRT953793	hsa-miR-4478	CLIP-seq
MIRT953796	hsa-miR-4505	CLIP-seq
MIRT953841	hsa-miR-4534	CLIP-seq
MIRT953799	hsa-miR-4660	CLIP-seq
MIRT1982383	hsa-miR-4667-5p	CLIP-seq
MIRT1982384	hsa-miR-4700-5p	CLIP-seq
MIRT953803	hsa-miR-4722-5p	CLIP-seq
MIRT1982385	hsa-miR-4735-5p	CLIP-seq
MIRT953806	hsa-miR-4772-3p	CLIP-seq
MIRT1982386	hsa-miR-4775	CLIP-seq
MIRT1982387	hsa-miR-4789-5p	CLIP-seq
MIRT1982388	hsa-miR-4794	CLIP-seq
MIRT1982389	hsa-miR-4802-3p	CLIP-seq
MIRT953809	hsa-miR-485-5p	CLIP-seq
MIRT1982390	hsa-miR-490-5p	CLIP-seq
MIRT953811	hsa-miR-5047	CLIP-seq
MIRT1982391	hsa-miR-5095	CLIP-seq
MIRT1982392	hsa-miR-590-3p	CLIP-seq
MIRT1982393	hsa-miR-603	CLIP-seq
MIRT953844	hsa-miR-610	CLIP-seq
MIRT953818	hsa-miR-612	CLIP-seq
MIRT1982394	hsa-miR-631	CLIP-seq
MIRT953821	hsa-miR-650	CLIP-seq
MIRT953822	hsa-miR-665	CLIP-seq
MIRT953826	hsa-miR-1193	CLIP-seq
MIRT953827	hsa-miR-122	CLIP-seq
MIRT953742	hsa-miR-1225-3p	CLIP-seq
MIRT953743	hsa-miR-1233	CLIP-seq
MIRT953829	hsa-miR-1287	CLIP-seq
MIRT953747	hsa-miR-1297	CLIP-seq
MIRT953751	hsa-miR-1827	CLIP-seq
MIRT953759	hsa-miR-26a	CLIP-seq
MIRT953760	hsa-miR-26b	CLIP-seq
MIRT953835	hsa-miR-3652	CLIP-seq
MIRT953784	hsa-miR-4284	CLIP-seq
MIRT953840	hsa-miR-4430	CLIP-seq
MIRT953791	hsa-miR-4459	CLIP-seq
MIRT953792	hsa-miR-4465	CLIP-seq
MIRT953841	hsa-miR-4534	CLIP-seq
MIRT953800	hsa-miR-4685-5p	CLIP-seq
MIRT953803	hsa-miR-4722-5p	CLIP-seq
MIRT953806	hsa-miR-4772-3p	CLIP-seq
MIRT953809	hsa-miR-485-5p	CLIP-seq
MIRT953844	hsa-miR-610	CLIP-seq
MIRT953825	hsa-miR-940	CLIP-seq
MIRT953826	hsa-miR-1193	CLIP-seq
MIRT953827	hsa-miR-122	CLIP-seq
MIRT953742	hsa-miR-1225-3p	CLIP-seq
MIRT953743	hsa-miR-1233	CLIP-seq
MIRT953829	hsa-miR-1287	CLIP-seq
MIRT953757	hsa-miR-24	CLIP-seq
MIRT953776	hsa-miR-3616-5p	CLIP-seq
MIRT953777	hsa-miR-3647-5p	CLIP-seq
MIRT953835	hsa-miR-3652	CLIP-seq
MIRT953778	hsa-miR-3689a-3p	CLIP-seq
MIRT953779	hsa-miR-3689c	CLIP-seq
MIRT953784	hsa-miR-4284	CLIP-seq
MIRT953840	hsa-miR-4430	CLIP-seq
MIRT953841	hsa-miR-4534	CLIP-seq
MIRT953804	hsa-miR-4728-5p	CLIP-seq
MIRT953806	hsa-miR-4772-3p	CLIP-seq
MIRT953807	hsa-miR-4795-5p	CLIP-seq
MIRT953814	hsa-miR-573	CLIP-seq
MIRT953844	hsa-miR-610	CLIP-seq
MIRT953822	hsa-miR-665	CLIP-seq
MIRT2521250	hsa-miR-10a	CLIP-seq
MIRT2521251	hsa-miR-10b	CLIP-seq
MIRT953826	hsa-miR-1193	CLIP-seq
MIRT953827	hsa-miR-122	CLIP-seq
MIRT2521252	hsa-miR-1227	CLIP-seq
MIRT1982371	hsa-miR-1228	CLIP-seq
MIRT953829	hsa-miR-1287	CLIP-seq
MIRT1982372	hsa-miR-3199	CLIP-seq
MIRT2521253	hsa-miR-339-5p	CLIP-seq
MIRT953773	hsa-miR-3612	CLIP-seq
MIRT953835	hsa-miR-3652	CLIP-seq
MIRT2521254	hsa-miR-3667-5p	CLIP-seq
MIRT2521255	hsa-miR-371-3p	CLIP-seq
MIRT2521256	hsa-miR-371b-3p	CLIP-seq
MIRT1982381	hsa-miR-4269	CLIP-seq
MIRT2521257	hsa-miR-4421	CLIP-seq
MIRT953840	hsa-miR-4430	CLIP-seq
MIRT1982382	hsa-miR-4438	CLIP-seq
MIRT953790	hsa-miR-4443	CLIP-seq
MIRT953841	hsa-miR-4534	CLIP-seq
MIRT2521258	hsa-miR-4715-3p	CLIP-seq
MIRT2521259	hsa-miR-4725-5p	CLIP-seq
MIRT1982385	hsa-miR-4735-5p	CLIP-seq
MIRT1982386	hsa-miR-4775	CLIP-seq
MIRT1982388	hsa-miR-4794	CLIP-seq
MIRT2521260	hsa-miR-4797-5p	CLIP-seq
MIRT953809	hsa-miR-485-5p	CLIP-seq
MIRT2521261	hsa-miR-495	CLIP-seq
MIRT2521262	hsa-miR-504	CLIP-seq
MIRT2521263	hsa-miR-508-5p	CLIP-seq
MIRT1982391	hsa-miR-5095	CLIP-seq
MIRT2521264	hsa-miR-515-3p	CLIP-seq
MIRT2521265	hsa-miR-519e	CLIP-seq
MIRT1982392	hsa-miR-590-3p	CLIP-seq
MIRT2521266	hsa-miR-593	CLIP-seq
MIRT953821	hsa-miR-650	CLIP-seq
MIRT2521267	hsa-miR-766	CLIP-seq
MIRT2521250	hsa-miR-10a	CLIP-seq
MIRT2521251	hsa-miR-10b	CLIP-seq
MIRT953826	hsa-miR-1193	CLIP-seq
MIRT953827	hsa-miR-122	CLIP-seq
MIRT2521252	hsa-miR-1227	CLIP-seq
MIRT1982371	hsa-miR-1228	CLIP-seq
MIRT953829	hsa-miR-1287	CLIP-seq
MIRT953747	hsa-miR-1297	CLIP-seq
MIRT953759	hsa-miR-26a	CLIP-seq
MIRT953760	hsa-miR-26b	CLIP-seq
MIRT1982372	hsa-miR-3199	CLIP-seq
MIRT2521253	hsa-miR-339-5p	CLIP-seq
MIRT953835	hsa-miR-3652	CLIP-seq
MIRT2521254	hsa-miR-3667-5p	CLIP-seq
MIRT2521255	hsa-miR-371-3p	CLIP-seq
MIRT2521256	hsa-miR-371b-3p	CLIP-seq
MIRT1982381	hsa-miR-4269	CLIP-seq
MIRT2521257	hsa-miR-4421	CLIP-seq
MIRT953840	hsa-miR-4430	CLIP-seq
MIRT1982382	hsa-miR-4438	CLIP-seq
MIRT953792	hsa-miR-4465	CLIP-seq
MIRT953841	hsa-miR-4534	CLIP-seq
MIRT953800	hsa-miR-4685-5p	CLIP-seq
MIRT2521258	hsa-miR-4715-3p	CLIP-seq
MIRT2521259	hsa-miR-4725-5p	CLIP-seq
MIRT1982385	hsa-miR-4735-5p	CLIP-seq
MIRT1982386	hsa-miR-4775	CLIP-seq
MIRT1982388	hsa-miR-4794	CLIP-seq
MIRT2521260	hsa-miR-4797-5p	CLIP-seq
MIRT2521262	hsa-miR-504	CLIP-seq
MIRT2521263	hsa-miR-508-5p	CLIP-seq
MIRT1982391	hsa-miR-5095	CLIP-seq
MIRT2521264	hsa-miR-515-3p	CLIP-seq
MIRT2521265	hsa-miR-519e	CLIP-seq
MIRT1982392	hsa-miR-590-3p	CLIP-seq
MIRT2521266	hsa-miR-593	CLIP-seq
MIRT2521267	hsa-miR-766	CLIP-seq

Show/Hide all (33)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000281	Process	Mitotic cytokinesis	IBA
GO:0000281	Process	Mitotic cytokinesis	IMP	28370826
GO:0000922	Component	Spindle pole	IDA	28370826
GO:0000922	Component	Spindle pole	IEA
GO:0005509	Function	Calcium ion binding	IEA
GO:0005515	Function	Protein binding	IPI	25416956, 25820252, 25910212, 28514442, 31515488, 32296183, 32814053, 33961781
GO:0005515	Function	Protein binding	ISS
GO:0005737	Component	Cytoplasm	IEA
GO:0005813	Component	Centrosome	IDA	22926142
GO:0005813	Component	Centrosome	IEA
GO:0005819	Component	Spindle	IEA
GO:0005856	Component	Cytoskeleton	IEA
GO:0005879	Component	Axonemal microtubule	IDA	36191189
GO:0005879	Component	Axonemal microtubule	IEA
GO:0005879	Component	Axonemal microtubule	ISS
GO:0005929	Component	Cilium	IEA
GO:0005930	Component	Axoneme	IBA
GO:0005930	Component	Axoneme	ISS
GO:0007052	Process	Mitotic spindle organization	IBA
GO:0007052	Process	Mitotic spindle organization	IMP	19734894, 28370826
GO:0021795	Process	Cerebral cortex cell migration	IMP	22926142
GO:0030317	Process	Flagellated sperm motility	ISS
GO:0031514	Component	Motile cilium	IEA
GO:0036126	Component	Sperm flagellum	ISS
GO:0042995	Component	Cell projection	IEA
GO:0043014	Function	Alpha-tubulin binding	IBA
GO:0043014	Function	Alpha-tubulin binding	IDA	19734894
GO:0043025	Component	Neuronal cell body	ISS
GO:0051302	Process	Regulation of cell division	IMP	19734894
GO:0060285	Process	Cilium-dependent cell motility	IBA
GO:0072686	Component	Mitotic spindle	IBA
GO:0072686	Component	Mitotic spindle	IDA	19734894, 22926142
GO:0160111	Component	Axonemal A tubule inner sheath	ISS

MIM	HGNC	e!Ensembl
608815	16406	ENSG00000096093

Q5JVL4

Protein name

EF-hand domain-containing protein 1 (Myoclonin-1)

Protein function

Microtubule inner protein (MIP) part of the dynein-decorated doublet microtubules (DMTs) in cilia axoneme, which is required for motile cilia beating (PubMed:36191189). Microtubule-associated protein which regulates cell division and neuronal mi

PDB

7UNG , 8J07

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF06565	DUF1126	86 → 190	DUF1126 PH-like domain	Domain
PF06565	DUF1126	232 → 351	DUF1126 PH-like domain	Domain
PF06565	DUF1126	409 → 512	DUF1126 PH-like domain	Domain

Tissue specificity

TISSUE SPECIFICITY: Widely expressed. Not detected in lymphocytes. {ECO:0000269|PubMed:15258581, ECO:0000269|PubMed:36191189}.

Sequence

MVSNPVHGLPFLPGTSFKDSTKTAFHRSQTLSYRNGYAIVRRPTVGIGGDRLQFNQLSQA
ELDELASKAPVLTYGQPKQAPPADFIPAHVAFDKKVLKFDAYFQEDVPMSTEEQYRIRQV
NIYYYLEDDSMSVIEPVVENSGILQGKLIKRQRLAKNDRGDHYHWKDLNRGINITIYGKT
FRVVDCDQFTQVFLESQGIELNPPEKMALDPYTELRKQPLRKYVTPSDFDQLKQFLTFDK
QVLRFYAIWDDTDSMYGECRTYIIHYYLMDDTVEIREVHERNDGRDPFPLLMNRQRVPKV
LVENAKNFPQCVLEISDQEVLEWYTAKDFIVGKSLTILGRTFFIYDCDPFTRRYYKEKFG
ITDLPRIDVSKREPPPVKQELPPYNGFGLVEDSAQNCFALIPKAPKKDVIKMLVNDNKVL
RYLAVLESPIPEDKDRRFVFSYFLATDMISIFEPPVRNSGIIGGKYLGRTKVVKPYSTVD
NPVYYGPSDFFIGAVIEVFGHRFIILDTDEYVLKYMESNAAQYSPEALASIQNHVRKREA
PAPEAESKQTEKDPGVQELEALIDTIQKQLKDHSCKDNIREAFQIYDKEASGYVDRDMFF
KICESLNVPVDDSLVKELIRMCSHGEGKINYYNFVRAFSN

Sequence length

640

Interactions

View interactions

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 Unknown Diseases (23)

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.
Absence seizure	Uncertain significance; Conflicting classifications of pathogenicity; Likely benign; Benign; risk factor	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATOPIC ECZEMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHILDHOOD ONSET ASTHMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EFHC1-related disorder	Conflicting classifications of pathogenicity; Benign; Likely benign; Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EPILEPSY	—	ClinGen, Disgenet ClinGen, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EPILEPSY, ABSENCE	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Epilepsy, idiopathic generalized, susceptibility to, 7	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Epilepsy, juvenile absence, susceptibility to, 1	Conflicting classifications of pathogenicity; Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Conflicting classifications of pathogenicity; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Benign; Likely benign; Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Juvenile myoclonic epilepsy	Conflicting classifications of pathogenicity; Benign; Likely benign; Uncertain significance; association	ClinVar ClinVar, Disgenet, Orphanet ClinVar, Disgenet, Orphanet ClinVar, Disgenet, Orphanet	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Lung cancer	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lymphoma	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYOCARDITIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myoclonic epilepsy, juvenile, susceptibility to, 1	Uncertain significance; Conflicting classifications of pathogenicity; Likely benign; Benign; risk factor; no classifications from unflagged records	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign; Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PERIPHERAL ARTERIAL DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Seizure	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Typical absence seizure	Uncertain significance; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Conflicting classifications of pathogenicity; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (39)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Absence Seizure Disorder	Absence Seizure	CTD_human_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Akinetic Petit Mal	Akinetic Petit Mal	CTD_human_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	BEFREE	26542096		★★★★★ ★☆☆☆☆ Found in Text Mining only
Childhood asthma	Asthma	GWASCAT_DG	26542096		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dermatitis, Atopic	Dermatitis	GWASCAT_DG	26542096		★★★★★ ★☆☆☆☆ Found in Text Mining only
Eczema	Eczema	BEFREE	26542096		★★★★★ ★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	BEFREE	15258581, 16378686, 19298753, 20141545, 25489633, 27467453, 30810526, 7654068, 7746411, 9305351		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Epilepsy	Epilepsy	LHGDN	17159113		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Epilepsy	Epilepsy	Pubtator	22690745, 28074849, 31056551	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Epilepsy Idiopathic Generalized	Epilepsy	Pubtator	12830434, 36842888, 8352275	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Epilepsy, Absence, Atypical	Epilepsy	CTD_human_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Epilepsy, Minor	Epilepsy	CTD_human_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Familial benign neonatal epilepsy	Benign Epilepsy	BEFREE	8796880		★★★★★ ★☆☆☆☆ Found in Text Mining only
Febrile Convulsions	Febrile seizures	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Generalized myoclonic seizures	Myoclonic Seizures	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Generalized seizures	Seizure	BEFREE	9305351		★★★★★ ★☆☆☆☆ Found in Text Mining only
Idiopathic generalized epilepsy	Epilepsy	BEFREE	10402495, 14582146, 17159113, 18593566, 25489633, 7746411, 8208346, 8232778, 8352275, 8528209, 8751867, 9933300		★★★★★ ★☆☆☆☆ Found in Text Mining only
Impulsive Petit Mal Epilepsy	Epilepsy	CTD_human_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Juvenile Myoclonic Epilepsy	Myoclonic Epilepsy	BEFREE	11676489, 12830434, 14582146, 15258581, 16049035, 16112844, 16278970, 16302872, 16302874, 16378686, 16414227, 16824517, 16839746, 16876319, 17054699 View all (27 more)		★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Juvenile Myoclonic Epilepsy	Myoclonic Epilepsy	CLINGEN_DG	15258581, 19147686		★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Juvenile Myoclonic Epilepsy	Myoclonic Epilepsy	UNIPROT_DG	15258581, 17634063, 22690745, 22727576, 22926142, 28370826		★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Juvenile Myoclonic Epilepsy	Myoclonic Epilepsy	LHGDN	17634063, 17972043, 18505993		★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Juvenile Myoclonic Epilepsy	Myoclonic Epilepsy	ORPHANET_DG	23756480		★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Juvenile myoclonic epilepsy	Myoclonic Epilepsy	Orphanet			★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Juvenile Myoclonic Epilepsy	Myoclonic Epilepsy	GENOMICS_ENGLAND_DG	28475290, 31056551		★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Juvenile Myoclonic Epilepsy	Myoclonic Epilepsy	CTD_human_DG			★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Juvenile Myoclonic Epilepsy	Myoclonic Epilepsy	CLINVAR_DG			★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Juvenile Myoclonic Epilepsy of Janz	Myoclonic Epilepsy	CTD_human_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Migraine Disorders	Migraine	BEFREE	16378686		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mouth Abnormalities	Mouth Abnormalities	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Myoclonic Epilepsy Juvenile	Myoclonic epilepsy	Pubtator	12830434, 16414227, 17634063, 18823326, 22690745, 22727576, 25489633, 33969125, 36842888, 38088014, 8352275	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Myoclonic Epilepsy, Adolescent	Myoclonic Epilepsy	CTD_human_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Myoclonic Epilepsy, Juvenile, 1	Myoclonic Epilepsy	CTD_human_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Peripheral Arterial Diseases	Vascular Diseases	GWASCAT_DG	27082954		★★★★★ ★☆☆☆☆ Found in Text Mining only
Photosensitive tonic-clonic seizures	Photosensitive tonic-clonic seizures	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Status Epilepticus	Status Epilepticus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Tonic - clonic seizures	Seizure	BEFREE	25625532, 7654068, 7746411		★★★★★ ★☆☆☆☆ Found in Text Mining only
Tonic - clonic seizures	Seizure	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Tonic-Clonic Epilepsy	Tonic-Clonic Epilepsy	BEFREE	7746411		★★★★★ ★☆☆☆☆ Found in Text Mining only

EFHC1 (EF-hand domain containing 1)