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

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Developmental and epileptic encephalopathy, 40	Pathogenic	rs879255631	RCV000239484

Unknown
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Adrenocortical carcinoma, hereditary	Benign	rs141526764, rs112026924	RCV005925924 RCV005913159
Cervical cancer	Benign	rs141526764, rs112026924	RCV005925925 RCV005913160
Cholangiocarcinoma	Benign; Likely benign	rs2306993, rs764047104	RCV005925991 RCV005933589
Chronic lymphocytic leukemia/small lymphocytic lymphoma	Benign	rs141526764	RCV005925933
Clear cell carcinoma of kidney	Benign	rs141526764, rs112026924	RCV005925926 RCV005913161
Colon adenocarcinoma	Benign	rs141526764	RCV005925919
Colorectal cancer	Benign; Uncertain significance	rs141526764, rs775538726	RCV005925927 RCV005928374
Familial cancer of breast	Benign; Likely benign	rs141526764, rs369790942	RCV005925918 RCV005926040
Gastric cancer	Benign	rs141526764	RCV005925929
GUF1-related disorder	Likely benign; Uncertain significance; Benign; Conflicting classifications of pathogenicity	rs529641422, rs368489353, rs368897009, rs141526764, rs369765501, rs772717106, rs115306084, rs183888731, rs756224726, rs764047104, rs116062572, rs201569798, rs150033989, rs114301959, rs112026924, rs115253144, rs201208012, rs151009252	RCV003913482 RCV004757481 RCV003911132 RCV003978809 RCV003903340 RCV003963655 RCV003973559 RCV003956538 RCV003959439 RCV003981325 RCV003925521 RCV003918417 RCV003905899 RCV003972859 RCV003972840 RCV003955852 RCV003940381 RCV004757302
Hepatocellular carcinoma	Benign	rs141526764	RCV005925922
Long QT syndrome	Likely benign	rs796052183	RCV000190192
Lung cancer	Uncertain significance	rs191387645	RCV005925665
Malignant tumor of esophagus	Benign; Likely benign	rs141526764, rs764047104	RCV005925923 RCV005933587
Malignant tumor of urinary bladder	Benign	rs141526764	RCV005925921
Melanoma	Benign	rs141526764	RCV005925932
Papillary renal cell carcinoma type 1	Benign	rs141526764	RCV005925920
Sarcoma	Benign; Likely benign	rs141526764, rs764047104	RCV005925928 RCV005933588
Thymoma	Benign	rs141526764, rs2306993	RCV005925930 RCV005925990
Thyroid cancer, nonmedullary, 1	Benign; Uncertain significance	rs141526764, rs749713534, rs112026924	RCV005925931 RCV005928499 RCV005913163
Uterine carcinosarcoma	Benign	rs2306993, rs112026924	RCV005925989 RCV005913162

Associations from Text Mining
Disease Name	Relationship Type	References
Cone Rod Dystrophies	Associate	15790869, 32650103
Hearing Loss Functional	Associate	15790869
Neoplasm Metastasis	Associate	34108011
Neoplasms	Associate	34108011
Retinal Cone Dystrophy 1	Associate	15735604
Spasms Infantile	Associate	26486472
Thyroid Neoplasms	Associate	37355885