GUF1 (GTP binding elongation factor GUF1)

Gene

• Entrez ID: 60558
• Gene name: GTP binding elongation factor GUF1
• Gene symbol: GUF1
• Synonyms (NCBI Gene): DEE40, EF-4, EF4, EIEE40
• Chromosome: 4
• Chromosome location: 4p12
• Summary: This gene encodes a GTPase that triggers back-translocation of the elongating ribosome during mitochondrial protein synthesis. The protein contains a highly conserved C-terminal domain not found in other GTPases that facilitates tRNA binding. The encoded

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs116062572	C>T	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant, 5 prime UTR variant
rs879255631	G>T	Pathogenic	Coding sequence variant, intron variant, missense variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT029058	hsa-miR-26b-5p	Microarray	19088304
MIRT460390	hsa-miR-4695-5p	HITS-CLIP	23706177
MIRT460389	hsa-miR-1910-3p	HITS-CLIP	23706177
MIRT460388	hsa-miR-6511a-5p	HITS-CLIP	23706177
MIRT460387	hsa-miR-3174	HITS-CLIP	23706177
MIRT460386	hsa-miR-4257	HITS-CLIP	23706177
MIRT460385	hsa-miR-4459	HITS-CLIP	23706177
MIRT460384	hsa-miR-665	HITS-CLIP	23706177
MIRT460383	hsa-miR-6840-3p	HITS-CLIP	23706177
MIRT460381	hsa-miR-1827	HITS-CLIP	23706177
MIRT460380	hsa-miR-377-5p	HITS-CLIP	23706177
MIRT460379	hsa-miR-6086	HITS-CLIP	23706177
MIRT460378	hsa-miR-4785	HITS-CLIP	23706177
MIRT460377	hsa-miR-2467-3p	HITS-CLIP	23706177
MIRT460376	hsa-miR-6499-3p	HITS-CLIP	23706177
MIRT460375	hsa-miR-3612	HITS-CLIP	23706177
MIRT460374	hsa-miR-650	HITS-CLIP	23706177
MIRT460373	hsa-miR-455-3p	HITS-CLIP	23706177
MIRT460372	hsa-miR-6516-5p	HITS-CLIP	23706177
MIRT460371	hsa-miR-1273e	HITS-CLIP	23706177
MIRT664573	hsa-miR-211-3p	HITS-CLIP	23824327
MIRT664572	hsa-miR-4270	HITS-CLIP	23824327
MIRT664571	hsa-miR-4441	HITS-CLIP	23824327
MIRT664570	hsa-miR-6754-5p	HITS-CLIP	23824327
MIRT664569	hsa-miR-181a-2-3p	HITS-CLIP	23824327
MIRT664568	hsa-miR-4267	HITS-CLIP	23824327
MIRT664567	hsa-miR-5187-3p	HITS-CLIP	23824327
MIRT664566	hsa-miR-6773-3p	HITS-CLIP	23824327
MIRT664565	hsa-miR-7977	HITS-CLIP	23824327
MIRT641386	hsa-miR-6507-3p	HITS-CLIP	23824327
MIRT641385	hsa-miR-34b-3p	HITS-CLIP	23824327
MIRT641384	hsa-miR-3145-5p	HITS-CLIP	23824327
MIRT641383	hsa-miR-34c-3p	HITS-CLIP	23824327
MIRT641382	hsa-miR-519d-5p	HITS-CLIP	23824327
MIRT540721	hsa-miR-4432	PAR-CLIP	21572407
MIRT540722	hsa-miR-3664-5p	PAR-CLIP	21572407
MIRT540719	hsa-miR-4486	PAR-CLIP	21572407
MIRT540720	hsa-miR-3120-5p	PAR-CLIP	21572407
MIRT540717	hsa-miR-4522	PAR-CLIP	21572407
MIRT540718	hsa-miR-4696	PAR-CLIP	21572407
MIRT540716	hsa-miR-31-5p	PAR-CLIP	21572407
MIRT540715	hsa-miR-1273a	PAR-CLIP	21572407
MIRT540714	hsa-miR-4649-5p	PAR-CLIP	21572407
MIRT540713	hsa-miR-6729-5p	PAR-CLIP	21572407
MIRT540712	hsa-miR-6888-3p	PAR-CLIP	21572407
MIRT540711	hsa-miR-6510-3p	PAR-CLIP	21572407
MIRT460391	hsa-miR-216b-5p	PAR-CLIP	23592263
MIRT460390	hsa-miR-4695-5p	PAR-CLIP	23592263
MIRT460389	hsa-miR-1910-3p	PAR-CLIP	23592263
MIRT460388	hsa-miR-6511a-5p	PAR-CLIP	23592263
MIRT460387	hsa-miR-3174	PAR-CLIP	23592263
MIRT460386	hsa-miR-4257	PAR-CLIP	23592263
MIRT460385	hsa-miR-4459	PAR-CLIP	23592263
MIRT460384	hsa-miR-665	PAR-CLIP	23592263
MIRT460383	hsa-miR-6840-3p	PAR-CLIP	23592263
MIRT460382	hsa-miR-4635	PAR-CLIP	23592263
MIRT460381	hsa-miR-1827	PAR-CLIP	23592263
MIRT460380	hsa-miR-377-5p	PAR-CLIP	23592263
MIRT460379	hsa-miR-6086	PAR-CLIP	23592263
MIRT460378	hsa-miR-4785	PAR-CLIP	23592263
MIRT460377	hsa-miR-2467-3p	PAR-CLIP	23592263
MIRT460376	hsa-miR-6499-3p	PAR-CLIP	23592263
MIRT460375	hsa-miR-3612	PAR-CLIP	23592263
MIRT460374	hsa-miR-650	PAR-CLIP	23592263
MIRT460373	hsa-miR-455-3p	PAR-CLIP	23592263
MIRT460372	hsa-miR-6516-5p	PAR-CLIP	23592263
MIRT460371	hsa-miR-1273e	PAR-CLIP	23592263
MIRT450383	hsa-miR-1277-5p	PAR-CLIP	22100165
MIRT460371	hsa-miR-1273e	PAR-CLIP	26701625
MIRT460371	hsa-miR-1273e	PAR-CLIP	26701625
MIRT460371	hsa-miR-1273e	PAR-CLIP	26701625
MIRT460371	hsa-miR-1273e	PAR-CLIP	26701625
MIRT460381	hsa-miR-1827	PAR-CLIP	26701625
MIRT460381	hsa-miR-1827	PAR-CLIP	26701625
MIRT460381	hsa-miR-1827	PAR-CLIP	26701625
MIRT460381	hsa-miR-1827	PAR-CLIP	26701625
MIRT460389	hsa-miR-1910-3p	PAR-CLIP	26701625
MIRT460389	hsa-miR-1910-3p	PAR-CLIP	26701625
MIRT460389	hsa-miR-1910-3p	PAR-CLIP	26701625
MIRT460389	hsa-miR-1910-3p	PAR-CLIP	26701625
MIRT460377	hsa-miR-2467-3p	PAR-CLIP	26701625
MIRT460377	hsa-miR-2467-3p	PAR-CLIP	26701625
MIRT460377	hsa-miR-2467-3p	PAR-CLIP	26701625
MIRT460377	hsa-miR-2467-3p	PAR-CLIP	26701625
MIRT460387	hsa-miR-3174	PAR-CLIP	26701625
MIRT460387	hsa-miR-3174	PAR-CLIP	26701625
MIRT460387	hsa-miR-3174	PAR-CLIP	26701625
MIRT460387	hsa-miR-3174	PAR-CLIP	26701625
MIRT460387	hsa-miR-3174	PAR-CLIP	26701625
MIRT460375	hsa-miR-3612	PAR-CLIP	26701625
MIRT460375	hsa-miR-3612	PAR-CLIP	26701625
MIRT460375	hsa-miR-3612	PAR-CLIP	26701625
MIRT460375	hsa-miR-3612	PAR-CLIP	26701625
MIRT460380	hsa-miR-377-5p	PAR-CLIP	26701625
MIRT460380	hsa-miR-377-5p	PAR-CLIP	26701625
MIRT460380	hsa-miR-377-5p	PAR-CLIP	26701625
MIRT460380	hsa-miR-377-5p	PAR-CLIP	26701625
MIRT460386	hsa-miR-4257	PAR-CLIP	26701625
MIRT460386	hsa-miR-4257	PAR-CLIP	26701625
MIRT460386	hsa-miR-4257	PAR-CLIP	26701625
MIRT460386	hsa-miR-4257	PAR-CLIP	26701625
MIRT460385	hsa-miR-4459	PAR-CLIP	26701625
MIRT460385	hsa-miR-4459	PAR-CLIP	26701625
MIRT460385	hsa-miR-4459	PAR-CLIP	26701625
MIRT460385	hsa-miR-4459	PAR-CLIP	26701625
MIRT460373	hsa-miR-455-3p	PAR-CLIP	26701625
MIRT460373	hsa-miR-455-3p	PAR-CLIP	26701625
MIRT460373	hsa-miR-455-3p	PAR-CLIP	26701625
MIRT460373	hsa-miR-455-3p	PAR-CLIP	26701625
MIRT460373	hsa-miR-455-3p	PAR-CLIP	26701625
MIRT460390	hsa-miR-4695-5p	PAR-CLIP	26701625
MIRT460390	hsa-miR-4695-5p	PAR-CLIP	26701625
MIRT460390	hsa-miR-4695-5p	PAR-CLIP	26701625
MIRT460390	hsa-miR-4695-5p	PAR-CLIP	26701625
MIRT460378	hsa-miR-4785	PAR-CLIP	26701625
MIRT460378	hsa-miR-4785	PAR-CLIP	26701625
MIRT460378	hsa-miR-4785	PAR-CLIP	26701625
MIRT460378	hsa-miR-4785	PAR-CLIP	26701625
MIRT460378	hsa-miR-4785	PAR-CLIP	26701625
MIRT460379	hsa-miR-6086	PAR-CLIP	26701625
MIRT460379	hsa-miR-6086	PAR-CLIP	26701625
MIRT460379	hsa-miR-6086	PAR-CLIP	26701625
MIRT460379	hsa-miR-6086	PAR-CLIP	26701625
MIRT460376	hsa-miR-6499-3p	PAR-CLIP	26701625
MIRT460376	hsa-miR-6499-3p	PAR-CLIP	26701625
MIRT460376	hsa-miR-6499-3p	PAR-CLIP	26701625
MIRT460376	hsa-miR-6499-3p	PAR-CLIP	26701625
MIRT460376	hsa-miR-6499-3p	PAR-CLIP	26701625
MIRT460374	hsa-miR-650	PAR-CLIP	26701625
MIRT460374	hsa-miR-650	PAR-CLIP	26701625
MIRT460374	hsa-miR-650	PAR-CLIP	26701625
MIRT460374	hsa-miR-650	PAR-CLIP	26701625
MIRT460388	hsa-miR-6511a-5p	PAR-CLIP	26701625
MIRT460388	hsa-miR-6511a-5p	PAR-CLIP	26701625
MIRT460388	hsa-miR-6511a-5p	PAR-CLIP	26701625
MIRT460388	hsa-miR-6511a-5p	PAR-CLIP	26701625
MIRT460372	hsa-miR-6516-5p	PAR-CLIP	26701625
MIRT460372	hsa-miR-6516-5p	PAR-CLIP	26701625
MIRT460372	hsa-miR-6516-5p	PAR-CLIP	26701625
MIRT460372	hsa-miR-6516-5p	PAR-CLIP	26701625
MIRT460372	hsa-miR-6516-5p	PAR-CLIP	26701625
MIRT460384	hsa-miR-665	PAR-CLIP	26701625
MIRT460384	hsa-miR-665	PAR-CLIP	26701625
MIRT460384	hsa-miR-665	PAR-CLIP	26701625
MIRT460384	hsa-miR-665	PAR-CLIP	26701625
MIRT460383	hsa-miR-6840-3p	PAR-CLIP	26701625
MIRT460383	hsa-miR-6840-3p	PAR-CLIP	26701625
MIRT460383	hsa-miR-6840-3p	PAR-CLIP	26701625
MIRT460383	hsa-miR-6840-3p	PAR-CLIP	26701625
MIRT460390	hsa-miR-4695-5p	HITS-CLIP	23706177
MIRT460389	hsa-miR-1910-3p	HITS-CLIP	23706177
MIRT460388	hsa-miR-6511a-5p	HITS-CLIP	23706177
MIRT460387	hsa-miR-3174	HITS-CLIP	23706177
MIRT460386	hsa-miR-4257	HITS-CLIP	23706177
MIRT460385	hsa-miR-4459	HITS-CLIP	23706177
MIRT460384	hsa-miR-665	HITS-CLIP	23706177
MIRT460383	hsa-miR-6840-3p	HITS-CLIP	23706177
MIRT460381	hsa-miR-1827	HITS-CLIP	23706177
MIRT460380	hsa-miR-377-5p	HITS-CLIP	23706177
MIRT460379	hsa-miR-6086	HITS-CLIP	23706177
MIRT460378	hsa-miR-4785	HITS-CLIP	23706177
MIRT460377	hsa-miR-2467-3p	HITS-CLIP	23706177
MIRT460376	hsa-miR-6499-3p	HITS-CLIP	23706177
MIRT460375	hsa-miR-3612	HITS-CLIP	23706177
MIRT460374	hsa-miR-650	HITS-CLIP	23706177
MIRT460373	hsa-miR-455-3p	HITS-CLIP	23706177
MIRT460372	hsa-miR-6516-5p	HITS-CLIP	23706177
MIRT460371	hsa-miR-1273e	HITS-CLIP	23706177
MIRT664573	hsa-miR-211-3p	HITS-CLIP	23824327
MIRT664572	hsa-miR-4270	HITS-CLIP	23824327
MIRT664571	hsa-miR-4441	HITS-CLIP	23824327
MIRT664570	hsa-miR-6754-5p	HITS-CLIP	23824327
MIRT664569	hsa-miR-181a-2-3p	HITS-CLIP	23824327
MIRT664568	hsa-miR-4267	HITS-CLIP	23824327
MIRT664567	hsa-miR-5187-3p	HITS-CLIP	23824327
MIRT664566	hsa-miR-6773-3p	HITS-CLIP	23824327
MIRT664565	hsa-miR-7977	HITS-CLIP	23824327
MIRT641386	hsa-miR-6507-3p	HITS-CLIP	23824327
MIRT641385	hsa-miR-34b-3p	HITS-CLIP	23824327
MIRT641384	hsa-miR-3145-5p	HITS-CLIP	23824327
MIRT641383	hsa-miR-34c-3p	HITS-CLIP	23824327
MIRT641382	hsa-miR-519d-5p	HITS-CLIP	23824327
MIRT540721	hsa-miR-4432	PAR-CLIP	21572407
MIRT540722	hsa-miR-3664-5p	PAR-CLIP	21572407
MIRT540719	hsa-miR-4486	PAR-CLIP	21572407
MIRT540720	hsa-miR-3120-5p	PAR-CLIP	21572407
MIRT540717	hsa-miR-4522	PAR-CLIP	21572407
MIRT540718	hsa-miR-4696	PAR-CLIP	21572407
MIRT540716	hsa-miR-31-5p	PAR-CLIP	21572407
MIRT540715	hsa-miR-1273a	PAR-CLIP	21572407
MIRT540714	hsa-miR-4649-5p	PAR-CLIP	21572407
MIRT540713	hsa-miR-6729-5p	PAR-CLIP	21572407
MIRT540712	hsa-miR-6888-3p	PAR-CLIP	21572407
MIRT540711	hsa-miR-6510-3p	PAR-CLIP	21572407
MIRT460391	hsa-miR-216b-5p	PAR-CLIP	23592263
MIRT460390	hsa-miR-4695-5p	PAR-CLIP	23592263
MIRT460389	hsa-miR-1910-3p	PAR-CLIP	23592263
MIRT460388	hsa-miR-6511a-5p	PAR-CLIP	23592263
MIRT460387	hsa-miR-3174	PAR-CLIP	23592263
MIRT460386	hsa-miR-4257	PAR-CLIP	23592263
MIRT460385	hsa-miR-4459	PAR-CLIP	23592263
MIRT460384	hsa-miR-665	PAR-CLIP	23592263
MIRT460383	hsa-miR-6840-3p	PAR-CLIP	23592263
MIRT460382	hsa-miR-4635	PAR-CLIP	23592263
MIRT460381	hsa-miR-1827	PAR-CLIP	23592263
MIRT460380	hsa-miR-377-5p	PAR-CLIP	23592263
MIRT460379	hsa-miR-6086	PAR-CLIP	23592263
MIRT460378	hsa-miR-4785	PAR-CLIP	23592263
MIRT460377	hsa-miR-2467-3p	PAR-CLIP	23592263
MIRT460376	hsa-miR-6499-3p	PAR-CLIP	23592263
MIRT460375	hsa-miR-3612	PAR-CLIP	23592263
MIRT460374	hsa-miR-650	PAR-CLIP	23592263
MIRT460373	hsa-miR-455-3p	PAR-CLIP	23592263
MIRT460372	hsa-miR-6516-5p	PAR-CLIP	23592263
MIRT460371	hsa-miR-1273e	PAR-CLIP	23592263
MIRT450383	hsa-miR-1277-5p	PAR-CLIP	22100165
MIRT1038456	hsa-miR-1273	CLIP-seq
MIRT1038457	hsa-miR-1273g	CLIP-seq
MIRT1038458	hsa-miR-197	CLIP-seq
MIRT1038459	hsa-miR-216b	CLIP-seq
MIRT1038460	hsa-miR-218	CLIP-seq
MIRT1038461	hsa-miR-2964a-5p	CLIP-seq
MIRT1038462	hsa-miR-3065-3p	CLIP-seq
MIRT1038463	hsa-miR-31	CLIP-seq
MIRT1038464	hsa-miR-3122	CLIP-seq
MIRT1038465	hsa-miR-3613-3p	CLIP-seq
MIRT1038466	hsa-miR-3614-3p	CLIP-seq
MIRT1038467	hsa-miR-3664-3p	CLIP-seq
MIRT1038468	hsa-miR-3689a-3p	CLIP-seq
MIRT1038469	hsa-miR-3689c	CLIP-seq
MIRT1038470	hsa-miR-371-5p	CLIP-seq
MIRT1038471	hsa-miR-371b-5p	CLIP-seq
MIRT1038472	hsa-miR-3913-3p	CLIP-seq
MIRT1038473	hsa-miR-3913-5p	CLIP-seq
MIRT1038474	hsa-miR-3920	CLIP-seq
MIRT1038475	hsa-miR-3929	CLIP-seq
MIRT1038476	hsa-miR-4260	CLIP-seq
MIRT1038477	hsa-miR-4289	CLIP-seq
MIRT1038478	hsa-miR-4325	CLIP-seq
MIRT1038479	hsa-miR-4419b	CLIP-seq
MIRT1038480	hsa-miR-4420	CLIP-seq
MIRT1038481	hsa-miR-4427	CLIP-seq
MIRT1038482	hsa-miR-4431	CLIP-seq
MIRT1038483	hsa-miR-4433	CLIP-seq
MIRT1038484	hsa-miR-4443	CLIP-seq
MIRT1038485	hsa-miR-4453	CLIP-seq
MIRT1038486	hsa-miR-4478	CLIP-seq
MIRT1038487	hsa-miR-4538	CLIP-seq
MIRT1038488	hsa-miR-455-5p	CLIP-seq
MIRT1038489	hsa-miR-4649-3p	CLIP-seq
MIRT1038490	hsa-miR-4717-5p	CLIP-seq
MIRT1038491	hsa-miR-4722-5p	CLIP-seq
MIRT1038492	hsa-miR-4728-5p	CLIP-seq
MIRT1038493	hsa-miR-4744	CLIP-seq
MIRT1038494	hsa-miR-4761-5p	CLIP-seq
MIRT1038495	hsa-miR-4762-3p	CLIP-seq
MIRT1038496	hsa-miR-4768-3p	CLIP-seq
MIRT1038497	hsa-miR-4796-5p	CLIP-seq
MIRT1038498	hsa-miR-4802-5p	CLIP-seq
MIRT1038499	hsa-miR-485-5p	CLIP-seq
MIRT1038500	hsa-miR-486-3p	CLIP-seq
MIRT1038501	hsa-miR-489	CLIP-seq
MIRT1038502	hsa-miR-508-5p	CLIP-seq
MIRT1038503	hsa-miR-548c-3p	CLIP-seq
MIRT1038504	hsa-miR-616	CLIP-seq
MIRT1038505	hsa-miR-661	CLIP-seq
MIRT1038506	hsa-miR-766	CLIP-seq
MIRT1038507	hsa-miR-876-3p	CLIP-seq
MIRT1038508	hsa-miR-940	CLIP-seq
MIRT2007875	hsa-miR-1228	CLIP-seq
MIRT2007876	hsa-miR-1244	CLIP-seq
MIRT1038456	hsa-miR-1273	CLIP-seq
MIRT1038457	hsa-miR-1273g	CLIP-seq
MIRT2007877	hsa-miR-18a	CLIP-seq
MIRT2007878	hsa-miR-18b	CLIP-seq
MIRT2007879	hsa-miR-196a	CLIP-seq
MIRT2007880	hsa-miR-196b	CLIP-seq
MIRT1038458	hsa-miR-197	CLIP-seq
MIRT2007881	hsa-miR-204	CLIP-seq
MIRT2007882	hsa-miR-211	CLIP-seq
MIRT2007883	hsa-miR-216a	CLIP-seq
MIRT1038459	hsa-miR-216b	CLIP-seq
MIRT1038462	hsa-miR-3065-3p	CLIP-seq
MIRT1038463	hsa-miR-31	CLIP-seq
MIRT1038464	hsa-miR-3122	CLIP-seq
MIRT2007884	hsa-miR-3125	CLIP-seq
MIRT2007885	hsa-miR-3607-5p	CLIP-seq
MIRT2007886	hsa-miR-3617	CLIP-seq
MIRT2007887	hsa-miR-3647-3p	CLIP-seq
MIRT2007888	hsa-miR-3662	CLIP-seq
MIRT1038467	hsa-miR-3664-3p	CLIP-seq
MIRT2007889	hsa-miR-3668	CLIP-seq
MIRT1038468	hsa-miR-3689a-3p	CLIP-seq
MIRT1038469	hsa-miR-3689c	CLIP-seq
MIRT1038473	hsa-miR-3913-5p	CLIP-seq
MIRT2007890	hsa-miR-3916	CLIP-seq
MIRT2007891	hsa-miR-3924	CLIP-seq
MIRT2007892	hsa-miR-3927	CLIP-seq
MIRT2007893	hsa-miR-3941	CLIP-seq
MIRT2007894	hsa-miR-412	CLIP-seq
MIRT1038476	hsa-miR-4260	CLIP-seq
MIRT2007895	hsa-miR-4261	CLIP-seq
MIRT1038483	hsa-miR-4433	CLIP-seq
MIRT1038485	hsa-miR-4453	CLIP-seq
MIRT2007896	hsa-miR-4477a	CLIP-seq
MIRT2007897	hsa-miR-4496	CLIP-seq
MIRT2007898	hsa-miR-4528	CLIP-seq
MIRT1038487	hsa-miR-4538	CLIP-seq
MIRT1038488	hsa-miR-455-5p	CLIP-seq
MIRT2007899	hsa-miR-4643	CLIP-seq
MIRT2007900	hsa-miR-4659a-3p	CLIP-seq
MIRT2007901	hsa-miR-4659b-3p	CLIP-seq
MIRT2007902	hsa-miR-466	CLIP-seq
MIRT2007903	hsa-miR-4668-3p	CLIP-seq
MIRT2007904	hsa-miR-4672	CLIP-seq
MIRT2007905	hsa-miR-4705	CLIP-seq
MIRT2007906	hsa-miR-4709-3p	CLIP-seq
MIRT1038490	hsa-miR-4717-5p	CLIP-seq
MIRT1038491	hsa-miR-4722-5p	CLIP-seq
MIRT2007907	hsa-miR-4724-5p	CLIP-seq
MIRT1038492	hsa-miR-4728-5p	CLIP-seq
MIRT2007908	hsa-miR-4729	CLIP-seq
MIRT2007909	hsa-miR-4735-3p	CLIP-seq
MIRT2007910	hsa-miR-4755-5p	CLIP-seq
MIRT1038494	hsa-miR-4761-5p	CLIP-seq
MIRT2007911	hsa-miR-4766-5p	CLIP-seq
MIRT1038496	hsa-miR-4768-3p	CLIP-seq
MIRT2007912	hsa-miR-4777-3p	CLIP-seq
MIRT2007913	hsa-miR-4789-3p	CLIP-seq
MIRT1038500	hsa-miR-486-3p	CLIP-seq
MIRT2007914	hsa-miR-500a	CLIP-seq
MIRT2007915	hsa-miR-501-5p	CLIP-seq
MIRT1038502	hsa-miR-508-5p	CLIP-seq
MIRT2007916	hsa-miR-513b	CLIP-seq
MIRT1038504	hsa-miR-616	CLIP-seq
MIRT2007917	hsa-miR-623	CLIP-seq
MIRT2007918	hsa-miR-641	CLIP-seq
MIRT2007919	hsa-miR-642b	CLIP-seq
MIRT1038505	hsa-miR-661	CLIP-seq
MIRT1038506	hsa-miR-766	CLIP-seq
MIRT1038507	hsa-miR-876-3p	CLIP-seq
MIRT1038508	hsa-miR-940	CLIP-seq
MIRT2007920	hsa-miR-944	CLIP-seq
MIRT2240574	hsa-miR-1227	CLIP-seq
MIRT2007875	hsa-miR-1228	CLIP-seq
MIRT1038456	hsa-miR-1273	CLIP-seq
MIRT1038457	hsa-miR-1273g	CLIP-seq
MIRT2240575	hsa-miR-1293	CLIP-seq
MIRT2240576	hsa-miR-135a	CLIP-seq
MIRT2240577	hsa-miR-135b	CLIP-seq
MIRT2240578	hsa-miR-146a	CLIP-seq
MIRT2240579	hsa-miR-146b-5p	CLIP-seq
MIRT2007877	hsa-miR-18a	CLIP-seq
MIRT2007878	hsa-miR-18b	CLIP-seq
MIRT2240580	hsa-miR-1908	CLIP-seq
MIRT1038458	hsa-miR-197	CLIP-seq
MIRT2007881	hsa-miR-204	CLIP-seq
MIRT2007882	hsa-miR-211	CLIP-seq
MIRT1038459	hsa-miR-216b	CLIP-seq
MIRT2240581	hsa-miR-25	CLIP-seq
MIRT2240582	hsa-miR-2682	CLIP-seq
MIRT2240583	hsa-miR-296-3p	CLIP-seq
MIRT1038462	hsa-miR-3065-3p	CLIP-seq
MIRT1038463	hsa-miR-31	CLIP-seq
MIRT1038464	hsa-miR-3122	CLIP-seq
MIRT2240584	hsa-miR-3145-3p	CLIP-seq
MIRT2240585	hsa-miR-3165	CLIP-seq
MIRT2240586	hsa-miR-3180	CLIP-seq
MIRT2240587	hsa-miR-3180-3p	CLIP-seq
MIRT2240588	hsa-miR-3184	CLIP-seq
MIRT2240589	hsa-miR-3196	CLIP-seq
MIRT2240590	hsa-miR-32	CLIP-seq
MIRT2240591	hsa-miR-33a	CLIP-seq
MIRT2240592	hsa-miR-33b	CLIP-seq
MIRT2240593	hsa-miR-363	CLIP-seq
MIRT1038467	hsa-miR-3664-3p	CLIP-seq
MIRT2240594	hsa-miR-367	CLIP-seq
MIRT1038468	hsa-miR-3689a-3p	CLIP-seq
MIRT1038469	hsa-miR-3689c	CLIP-seq
MIRT2240595	hsa-miR-370	CLIP-seq
MIRT1038473	hsa-miR-3913-5p	CLIP-seq
MIRT2240596	hsa-miR-3926	CLIP-seq
MIRT2007894	hsa-miR-412	CLIP-seq
MIRT2240597	hsa-miR-423-5p	CLIP-seq
MIRT1038476	hsa-miR-4260	CLIP-seq
MIRT2240598	hsa-miR-4275	CLIP-seq
MIRT2240599	hsa-miR-4277	CLIP-seq
MIRT1038478	hsa-miR-4325	CLIP-seq
MIRT1038483	hsa-miR-4433	CLIP-seq
MIRT2240600	hsa-miR-4483	CLIP-seq
MIRT2240601	hsa-miR-449c	CLIP-seq
MIRT1038488	hsa-miR-455-5p	CLIP-seq
MIRT2240602	hsa-miR-4641	CLIP-seq
MIRT2240603	hsa-miR-4658	CLIP-seq
MIRT2007905	hsa-miR-4705	CLIP-seq
MIRT2240604	hsa-miR-4711-3p	CLIP-seq
MIRT1038490	hsa-miR-4717-5p	CLIP-seq
MIRT1038491	hsa-miR-4722-5p	CLIP-seq
MIRT1038492	hsa-miR-4728-5p	CLIP-seq
MIRT2007908	hsa-miR-4729	CLIP-seq
MIRT2007909	hsa-miR-4735-3p	CLIP-seq
MIRT2240605	hsa-miR-4736	CLIP-seq
MIRT2240606	hsa-miR-4742-5p	CLIP-seq
MIRT2007910	hsa-miR-4755-5p	CLIP-seq
MIRT2240607	hsa-miR-4758-5p	CLIP-seq
MIRT1038494	hsa-miR-4761-5p	CLIP-seq
MIRT1038496	hsa-miR-4768-3p	CLIP-seq
MIRT2240608	hsa-miR-4773	CLIP-seq
MIRT1038500	hsa-miR-486-3p	CLIP-seq
MIRT2240609	hsa-miR-495	CLIP-seq
MIRT2240610	hsa-miR-498	CLIP-seq
MIRT2007914	hsa-miR-500a	CLIP-seq
MIRT1038502	hsa-miR-508-5p	CLIP-seq
MIRT2007916	hsa-miR-513b	CLIP-seq
MIRT2240611	hsa-miR-520f	CLIP-seq
MIRT2240612	hsa-miR-548s	CLIP-seq
MIRT2240613	hsa-miR-580	CLIP-seq
MIRT2240614	hsa-miR-589	CLIP-seq
MIRT2240615	hsa-miR-617	CLIP-seq
MIRT2007917	hsa-miR-623	CLIP-seq
MIRT2007919	hsa-miR-642b	CLIP-seq
MIRT1038505	hsa-miR-661	CLIP-seq
MIRT2240616	hsa-miR-663	CLIP-seq
MIRT1038506	hsa-miR-766	CLIP-seq
MIRT1038507	hsa-miR-876-3p	CLIP-seq
MIRT2240617	hsa-miR-92a	CLIP-seq
MIRT2240618	hsa-miR-92b	CLIP-seq
MIRT1038508	hsa-miR-940	CLIP-seq
MIRT2240575	hsa-miR-1293	CLIP-seq
MIRT2240585	hsa-miR-3165	CLIP-seq
MIRT1038467	hsa-miR-3664-3p	CLIP-seq
MIRT2240596	hsa-miR-3926	CLIP-seq
MIRT2007894	hsa-miR-412	CLIP-seq
MIRT2240599	hsa-miR-4277	CLIP-seq
MIRT1038483	hsa-miR-4433	CLIP-seq
MIRT2240600	hsa-miR-4483	CLIP-seq
MIRT2007905	hsa-miR-4705	CLIP-seq
MIRT1038490	hsa-miR-4717-5p	CLIP-seq
MIRT2007908	hsa-miR-4729	CLIP-seq
MIRT1038496	hsa-miR-4768-3p	CLIP-seq
MIRT2007912	hsa-miR-4777-3p	CLIP-seq
MIRT2007916	hsa-miR-513b	CLIP-seq
MIRT2240612	hsa-miR-548s	CLIP-seq
MIRT2240615	hsa-miR-617	CLIP-seq
MIRT2007919	hsa-miR-642b	CLIP-seq
MIRT2007875	hsa-miR-1228	CLIP-seq
MIRT1038456	hsa-miR-1273	CLIP-seq
MIRT2240581	hsa-miR-25	CLIP-seq
MIRT1038462	hsa-miR-3065-3p	CLIP-seq
MIRT1038464	hsa-miR-3122	CLIP-seq
MIRT2240590	hsa-miR-32	CLIP-seq
MIRT2240593	hsa-miR-363	CLIP-seq
MIRT2240594	hsa-miR-367	CLIP-seq
MIRT1038468	hsa-miR-3689a-3p	CLIP-seq
MIRT1038469	hsa-miR-3689c	CLIP-seq
MIRT1038473	hsa-miR-3913-5p	CLIP-seq
MIRT1038478	hsa-miR-4325	CLIP-seq
MIRT1038482	hsa-miR-4431	CLIP-seq
MIRT1038483	hsa-miR-4433	CLIP-seq
MIRT1038492	hsa-miR-4728-5p	CLIP-seq
MIRT1038493	hsa-miR-4744	CLIP-seq
MIRT1038496	hsa-miR-4768-3p	CLIP-seq
MIRT1038502	hsa-miR-508-5p	CLIP-seq
MIRT1038505	hsa-miR-661	CLIP-seq
MIRT1038506	hsa-miR-766	CLIP-seq
MIRT2240617	hsa-miR-92a	CLIP-seq
MIRT2240618	hsa-miR-92b	CLIP-seq
MIRT1038508	hsa-miR-940	CLIP-seq
MIRT2007875	hsa-miR-1228	CLIP-seq
MIRT1038456	hsa-miR-1273	CLIP-seq
MIRT1038457	hsa-miR-1273g	CLIP-seq
MIRT2544030	hsa-miR-1286	CLIP-seq
MIRT2240575	hsa-miR-1293	CLIP-seq
MIRT2544031	hsa-miR-1303	CLIP-seq
MIRT2544032	hsa-miR-186	CLIP-seq
MIRT2007877	hsa-miR-18a	CLIP-seq
MIRT2007878	hsa-miR-18b	CLIP-seq
MIRT2007879	hsa-miR-196a	CLIP-seq
MIRT2007880	hsa-miR-196b	CLIP-seq
MIRT1038458	hsa-miR-197	CLIP-seq
MIRT2007881	hsa-miR-204	CLIP-seq
MIRT2007882	hsa-miR-211	CLIP-seq
MIRT1038459	hsa-miR-216b	CLIP-seq
MIRT2544033	hsa-miR-2355-3p	CLIP-seq
MIRT2240581	hsa-miR-25	CLIP-seq
MIRT1038462	hsa-miR-3065-3p	CLIP-seq
MIRT1038463	hsa-miR-31	CLIP-seq
MIRT2544034	hsa-miR-3117-5p	CLIP-seq
MIRT1038464	hsa-miR-3122	CLIP-seq
MIRT2544035	hsa-miR-3133	CLIP-seq
MIRT2240585	hsa-miR-3165	CLIP-seq
MIRT2544036	hsa-miR-3177-5p	CLIP-seq
MIRT2240590	hsa-miR-32	CLIP-seq
MIRT2544037	hsa-miR-323-5p	CLIP-seq
MIRT2544038	hsa-miR-3591-5p	CLIP-seq
MIRT2007885	hsa-miR-3607-5p	CLIP-seq
MIRT2544039	hsa-miR-3611	CLIP-seq
MIRT1038465	hsa-miR-3613-3p	CLIP-seq
MIRT2240593	hsa-miR-363	CLIP-seq
MIRT2007887	hsa-miR-3647-3p	CLIP-seq
MIRT1038467	hsa-miR-3664-3p	CLIP-seq
MIRT2007889	hsa-miR-3668	CLIP-seq
MIRT2240594	hsa-miR-367	CLIP-seq
MIRT2544040	hsa-miR-3675-5p	CLIP-seq
MIRT1038468	hsa-miR-3689a-3p	CLIP-seq
MIRT1038469	hsa-miR-3689c	CLIP-seq
MIRT2544041	hsa-miR-3714	CLIP-seq
MIRT1038470	hsa-miR-371-5p	CLIP-seq
MIRT1038471	hsa-miR-371b-5p	CLIP-seq
MIRT1038472	hsa-miR-3913-3p	CLIP-seq
MIRT1038473	hsa-miR-3913-5p	CLIP-seq
MIRT2544042	hsa-miR-3919	CLIP-seq
MIRT2007891	hsa-miR-3924	CLIP-seq
MIRT2240596	hsa-miR-3926	CLIP-seq
MIRT2007892	hsa-miR-3927	CLIP-seq
MIRT1038475	hsa-miR-3929	CLIP-seq
MIRT2544043	hsa-miR-3938	CLIP-seq
MIRT2007893	hsa-miR-3941	CLIP-seq
MIRT1038476	hsa-miR-4260	CLIP-seq
MIRT1038478	hsa-miR-4325	CLIP-seq
MIRT1038479	hsa-miR-4419b	CLIP-seq
MIRT1038482	hsa-miR-4431	CLIP-seq
MIRT1038483	hsa-miR-4433	CLIP-seq
MIRT1038484	hsa-miR-4443	CLIP-seq
MIRT1038485	hsa-miR-4453	CLIP-seq
MIRT1038486	hsa-miR-4478	CLIP-seq
MIRT2240600	hsa-miR-4483	CLIP-seq
MIRT1038487	hsa-miR-4538	CLIP-seq
MIRT1038488	hsa-miR-455-5p	CLIP-seq
MIRT2007899	hsa-miR-4643	CLIP-seq
MIRT2544044	hsa-miR-4646-3p	CLIP-seq
MIRT1038489	hsa-miR-4649-3p	CLIP-seq
MIRT2007902	hsa-miR-466	CLIP-seq
MIRT2007903	hsa-miR-4668-3p	CLIP-seq
MIRT2544045	hsa-miR-4669	CLIP-seq
MIRT2007904	hsa-miR-4672	CLIP-seq
MIRT2007905	hsa-miR-4705	CLIP-seq
MIRT1038490	hsa-miR-4717-5p	CLIP-seq
MIRT1038491	hsa-miR-4722-5p	CLIP-seq
MIRT1038492	hsa-miR-4728-5p	CLIP-seq
MIRT2007908	hsa-miR-4729	CLIP-seq
MIRT2007909	hsa-miR-4735-3p	CLIP-seq
MIRT1038493	hsa-miR-4744	CLIP-seq
MIRT2007910	hsa-miR-4755-5p	CLIP-seq
MIRT1038494	hsa-miR-4761-5p	CLIP-seq
MIRT2007911	hsa-miR-4766-5p	CLIP-seq
MIRT1038496	hsa-miR-4768-3p	CLIP-seq
MIRT2544046	hsa-miR-4780	CLIP-seq
MIRT2007913	hsa-miR-4789-3p	CLIP-seq
MIRT1038498	hsa-miR-4802-5p	CLIP-seq
MIRT1038499	hsa-miR-485-5p	CLIP-seq
MIRT1038500	hsa-miR-486-3p	CLIP-seq
MIRT2544047	hsa-miR-488	CLIP-seq
MIRT2544048	hsa-miR-491-3p	CLIP-seq
MIRT2544049	hsa-miR-494	CLIP-seq
MIRT2007914	hsa-miR-500a	CLIP-seq
MIRT2007915	hsa-miR-501-5p	CLIP-seq
MIRT1038502	hsa-miR-508-5p	CLIP-seq
MIRT2007916	hsa-miR-513b	CLIP-seq
MIRT2544050	hsa-miR-548a-5p	CLIP-seq
MIRT2544051	hsa-miR-548ab	CLIP-seq
MIRT2544052	hsa-miR-548ak	CLIP-seq
MIRT2544053	hsa-miR-548an	CLIP-seq
MIRT2544054	hsa-miR-548b-5p	CLIP-seq
MIRT1038503	hsa-miR-548c-3p	CLIP-seq
MIRT2544055	hsa-miR-548c-5p	CLIP-seq
MIRT2544056	hsa-miR-548d-5p	CLIP-seq
MIRT2544057	hsa-miR-548h	CLIP-seq
MIRT2544058	hsa-miR-548i	CLIP-seq
MIRT2544059	hsa-miR-548j	CLIP-seq
MIRT2544060	hsa-miR-548k	CLIP-seq
MIRT2544061	hsa-miR-548l	CLIP-seq
MIRT2240612	hsa-miR-548s	CLIP-seq
MIRT2544062	hsa-miR-548w	CLIP-seq
MIRT2544063	hsa-miR-548y	CLIP-seq
MIRT2544064	hsa-miR-559	CLIP-seq
MIRT2544065	hsa-miR-586	CLIP-seq
MIRT2544066	hsa-miR-590-3p	CLIP-seq
MIRT2007917	hsa-miR-623	CLIP-seq
MIRT2007919	hsa-miR-642b	CLIP-seq
MIRT1038505	hsa-miR-661	CLIP-seq
MIRT1038506	hsa-miR-766	CLIP-seq
MIRT1038507	hsa-miR-876-3p	CLIP-seq
MIRT2240617	hsa-miR-92a	CLIP-seq
MIRT2240618	hsa-miR-92b	CLIP-seq
MIRT1038508	hsa-miR-940	CLIP-seq
MIRT2007875	hsa-miR-1228	CLIP-seq
MIRT1038456	hsa-miR-1273	CLIP-seq
MIRT1038457	hsa-miR-1273g	CLIP-seq
MIRT2240575	hsa-miR-1293	CLIP-seq
MIRT2544031	hsa-miR-1303	CLIP-seq
MIRT2007877	hsa-miR-18a	CLIP-seq
MIRT2007878	hsa-miR-18b	CLIP-seq
MIRT1038458	hsa-miR-197	CLIP-seq
MIRT1038459	hsa-miR-216b	CLIP-seq
MIRT2544033	hsa-miR-2355-3p	CLIP-seq
MIRT2240581	hsa-miR-25	CLIP-seq
MIRT1038462	hsa-miR-3065-3p	CLIP-seq
MIRT1038463	hsa-miR-31	CLIP-seq
MIRT1038464	hsa-miR-3122	CLIP-seq
MIRT2240585	hsa-miR-3165	CLIP-seq
MIRT2544036	hsa-miR-3177-5p	CLIP-seq
MIRT2240590	hsa-miR-32	CLIP-seq
MIRT2007885	hsa-miR-3607-5p	CLIP-seq
MIRT2544039	hsa-miR-3611	CLIP-seq
MIRT1038465	hsa-miR-3613-3p	CLIP-seq
MIRT2240593	hsa-miR-363	CLIP-seq
MIRT1038467	hsa-miR-3664-3p	CLIP-seq
MIRT2240594	hsa-miR-367	CLIP-seq
MIRT1038468	hsa-miR-3689a-3p	CLIP-seq
MIRT1038469	hsa-miR-3689c	CLIP-seq
MIRT1038470	hsa-miR-371-5p	CLIP-seq
MIRT1038471	hsa-miR-371b-5p	CLIP-seq
MIRT1038472	hsa-miR-3913-3p	CLIP-seq
MIRT1038473	hsa-miR-3913-5p	CLIP-seq
MIRT2544042	hsa-miR-3919	CLIP-seq
MIRT2240596	hsa-miR-3926	CLIP-seq
MIRT2007893	hsa-miR-3941	CLIP-seq
MIRT1038476	hsa-miR-4260	CLIP-seq
MIRT1038478	hsa-miR-4325	CLIP-seq
MIRT1038482	hsa-miR-4431	CLIP-seq
MIRT1038483	hsa-miR-4433	CLIP-seq
MIRT1038485	hsa-miR-4453	CLIP-seq
MIRT2240600	hsa-miR-4483	CLIP-seq
MIRT1038487	hsa-miR-4538	CLIP-seq
MIRT1038488	hsa-miR-455-5p	CLIP-seq
MIRT2007899	hsa-miR-4643	CLIP-seq
MIRT2544044	hsa-miR-4646-3p	CLIP-seq
MIRT2007902	hsa-miR-466	CLIP-seq
MIRT2007904	hsa-miR-4672	CLIP-seq
MIRT2007905	hsa-miR-4705	CLIP-seq
MIRT1038490	hsa-miR-4717-5p	CLIP-seq
MIRT1038491	hsa-miR-4722-5p	CLIP-seq
MIRT1038492	hsa-miR-4728-5p	CLIP-seq
MIRT2007908	hsa-miR-4729	CLIP-seq
MIRT2007909	hsa-miR-4735-3p	CLIP-seq
MIRT1038493	hsa-miR-4744	CLIP-seq
MIRT1038494	hsa-miR-4761-5p	CLIP-seq
MIRT1038496	hsa-miR-4768-3p	CLIP-seq
MIRT2007913	hsa-miR-4789-3p	CLIP-seq
MIRT1038500	hsa-miR-486-3p	CLIP-seq
MIRT2544048	hsa-miR-491-3p	CLIP-seq
MIRT2544049	hsa-miR-494	CLIP-seq
MIRT1038502	hsa-miR-508-5p	CLIP-seq
MIRT1038503	hsa-miR-548c-3p	CLIP-seq
MIRT2240612	hsa-miR-548s	CLIP-seq
MIRT2544065	hsa-miR-586	CLIP-seq
MIRT2007919	hsa-miR-642b	CLIP-seq
MIRT1038505	hsa-miR-661	CLIP-seq
MIRT1038506	hsa-miR-766	CLIP-seq
MIRT1038507	hsa-miR-876-3p	CLIP-seq
MIRT2240617	hsa-miR-92a	CLIP-seq
MIRT2240618	hsa-miR-92b	CLIP-seq
MIRT1038508	hsa-miR-940	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0003924	Function	GTPase activity	IEA
GO:0005525	Function	GTP binding	IEA
GO:0005739	Component	Mitochondrion	HTP	34800366
GO:0005739	Component	Mitochondrion	IBA
GO:0005739	Component	Mitochondrion	IEA
GO:0005743	Component	Mitochondrial inner membrane	IEA
GO:0005759	Component	Mitochondrial matrix	IEA
GO:0006412	Process	Translation	IEA
GO:0016020	Component	Membrane	IEA
GO:0016787	Function	Hydrolase activity	IEA
GO:0043022	Function	Ribosome binding	IEA
GO:0045727	Process	Positive regulation of translation	IBA
GO:0045727	Process	Positive regulation of translation	IEA
GO:0097177	Function	Mitochondrial ribosome binding	IBA

Other IDs

• MIM: 617064
• HGNC: 25799
• e!Ensembl: ENSG00000151806

Protein

• UniProt ID: Q8N442
• Protein name: Translation factor GUF1, mitochondrial (EC 3.6.5.-) (Elongation factor 4 homolog) (EF-4) (GTPase GUF1) (Ribosomal back-translocase)
• Protein function: Promotes mitochondrial protein synthesis. May act as a fidelity factor of the translation reaction, by catalyzing a one-codon backward translocation of tRNAs on improperly translocated ribosomes. Binds to mitochondrial ribosomes in a GTP-depende
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00009	GTP_EFTU	66 → 245	Elongation factor Tu GTP binding domain	Domain
  PF03144	GTP_EFTU_D2	268 → 338	Elongation factor Tu domain 2	Domain
  PF00679	EFG_C	468 → 557	Elongation factor G C-terminus	Domain
  PF06421	LepA_C	558 → 664	GTP-binding protein LepA C-terminus	Family

• Sequence:

  MWTLVGRGWGCARALAPRATGAALLVAPGPRSAPTLGAAPESWATDRLYSSAEFKEKLDM
  SRFPVENIRNFSIVAHVDHGKSTLADRLLELTGTIDKTKNNKQVLDKLQVERERGITVKA
  QTASLFYNCEGKQYLLNLIDTPGHVDFSYEVSRSLSACQGVLLVVDANEGIQAQTVANFF
  LAFEAQLSVIPVINKIDLKNADPERVENQIEKVFDIPSDECIKISAKLGTNVESVLQAII
  ERIPPPKVHRKNPLRALVFDSTFDQYRGVIANVALFDGVVSKGDKIVSAHTQKTYEVNEV
  GVLNPNEQPTHKLYAGQVGYLIAGMKDVTEAQIGDTLCLHKQPVEPLPGFKSAKPMVFAG
  MYPLDQSEYNNLKSAIEKLTLNDSSVTVHRDSSLALGAGWRLGFLGLLHMEVFNQRLEQE
  YNASVILTTPTVPYKAVLSSSKLIKEHREKEITIINPAQFPDKSKVTEYLEPVVLGTIIT
  PDEYTGKIMMLCEARRAVQKNMIFIDQNRVMLKYLFPLNEIVVDFYDSLKSLSSGYASFD
  YEDAGYQTAELVKMDILLNGNTVEELVTVVHKDKAHSIGKAICERLKDSLPRQLFEIAIQ
  AAIGSKIIARETVKAYRKNVLAKCYGGDITRKMKLLKRQAEGKKKLRKIGNVEVPKDAFI
  KVLKTQSSK

• Sequence length: 669

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Developmental and epileptic encephalopathy, 40	Pathogenic	rs879255631	RCV000239484	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Adrenocortical carcinoma, hereditary	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Chronic lymphocytic leukemia/small lymphocytic lymphoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal cancer	Benign; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 40	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GUF1-related disorder	Likely benign; Uncertain significance; Benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INSOMNIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Long QT syndrome	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of urinary bladder	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Papillary renal cell carcinoma type 1	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Benign; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
WEST SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Cerebral cortical atrophy	Cerebral cortical atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Choreoathetosis	Choreoathetosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Developmental regression	Developmental regression	HPO_DG			★☆☆☆☆ Found in Text Mining only
Epileptic encephalopathy	Epileptic encephalopathy	HPO_DG			★☆☆☆☆ Found in Text Mining only
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 40	Epileptic encephalopathy	UNIPROT_DG	26486472		★☆☆☆☆ Found in Text Mining only
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 40	Epileptic encephalopathy	GENOMICS_ENGLAND_DG	26486472		★☆☆☆☆ Found in Text Mining only
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 40	Epileptic encephalopathy	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Infantile spasms syndrome	Spasms Syndrome	Orphanet			★☆☆☆☆ Found in Text Mining only
Spasms Infantile	Infantile spasms	Pubtator	26486472	Associate	★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasms	Thyroid cancer	Pubtator	37355885	Associate	★☆☆☆☆ Found in Text Mining only
West Syndrome	West Syndrome	ORPHANET_DG	26486472		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
West Syndrome	West Syndrome	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations