FUS (FUS RNA binding protein)

Gene

• Entrez ID: 2521
• Gene name: FUS RNA binding protein
• Gene symbol: FUS
• Synonyms (NCBI Gene): ALS6, ETM4, FUS1, HNRNPP2, POMP75, TLS, altFUS
• Chromosome: 16
• Chromosome location: 16p11.2
• Summary: This gene encodes a multifunctional protein component of the heterogeneous nuclear ribonucleoprotein (hnRNP) complex. The hnRNP complex is involved in pre-mRNA splicing and the export of fully processed mRNA to the cytoplasm. This protein belongs to the F

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs72550890	CGGCGGCGGCGG>-,CGG,CGGCGG,CGGCGGCGG,CGGCGGCGGCGGCGG,CGGCGGCGGCGGCGGCGG,CGGCGGCGGCGGCGGCGGCGG,CGGCGGCGGCGGCGGCGGCGGCGG,CGGCGGCGGCGGCGGCGGCGGCGGCGG,CGGCGGCGGCGGCGGCGGCGGCGGCGGCGG	Benign, uncertain-significance, likely-benign, conflicting-interpretations-of-pathogenicity	Non coding transcript variant, inframe insertion, inframe deletion, coding sequence variant
rs121909667	C>G	Pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs121909668	C>A,G,T	Pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs121909669	G>A	Pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs121909671	G>A,T	Pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs186547381	C>T	Uncertain-significance, pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs190724342	C>T	Conflicting-interpretations-of-pathogenicity	Non coding transcript variant, coding sequence variant, synonymous variant
rs267606831	G>A	Pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs267606832	C>G,T	Pathogenic	Non coding transcript variant, missense variant, coding sequence variant, synonymous variant
rs267606833	A>T	Pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs376510148	G>A	Conflicting-interpretations-of-pathogenicity	Non coding transcript variant, 3 prime UTR variant
rs387906627	C>T	Pathogenic	Non coding transcript variant, coding sequence variant, stop gained
rs387906628	G>A	Pathogenic	Non coding transcript variant, synonymous variant, coding sequence variant, missense variant
rs387907274	C>T	Pathogenic	Non coding transcript variant, coding sequence variant, stop gained
rs752076094	A>G	Likely-pathogenic	Missense variant, synonymous variant, non coding transcript variant, coding sequence variant
rs764487847	C>G,T	Likely-pathogenic	Coding sequence variant, 5 prime UTR variant, non coding transcript variant, stop gained, upstream transcript variant, genic upstream transcript variant, missense variant
rs886041389	G>C	Pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs886041390	C>T	Pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs886041577	GA>-	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs886041776	->GGTGG	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs1085308015	A>C,G	Likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs1161032867	G>-,GGGG	Pathogenic	Inframe insertion, frameshift variant, non coding transcript variant, coding sequence variant
rs1555509569	A>-	Pathogenic	Splice acceptor variant
rs1555509609	A>C,G,T	Likely-pathogenic	Missense variant, synonymous variant, non coding transcript variant, coding sequence variant
rs1555509693	A>G	Pathogenic, uncertain-significance	Missense variant, non coding transcript variant, coding sequence variant
rs1596908744	TT>-	Pathogenic	Non coding transcript variant, coding sequence variant, stop gained
rs1596912983	->AG	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT004196	hsa-miR-197-3p	Microarray	16822819
MIRT047505	hsa-miR-10a-5p	CLASH	23622248
MIRT047505	hsa-miR-10a-5p	CLASH	23622248
MIRT047277	hsa-miR-181b-5p	CLASH	23622248
MIRT046900	hsa-miR-221-3p	CLASH	23622248
MIRT046086	hsa-miR-125b-5p	CLASH	23622248
MIRT043384	hsa-miR-331-3p	CLASH	23622248
MIRT043384	hsa-miR-331-3p	CLASH	23622248
MIRT040469	hsa-miR-615-3p	CLASH	23622248
MIRT036115	hsa-miR-1296-5p	CLASH	23622248
MIRT035826	hsa-miR-664a-3p	CLASH	23622248
MIRT052707	hsa-miR-1260b	CLASH	23622248
MIRT672490	hsa-miR-508-5p	HITS-CLIP	23824327
MIRT672489	hsa-miR-766-3p	HITS-CLIP	23824327
MIRT672488	hsa-miR-4793-3p	HITS-CLIP	23824327
MIRT672487	hsa-miR-4537	HITS-CLIP	23824327
MIRT672486	hsa-miR-4252	HITS-CLIP	23824327
MIRT672485	hsa-miR-1254	HITS-CLIP	23824327
MIRT672484	hsa-miR-3116	HITS-CLIP	23824327
MIRT672483	hsa-miR-6744-5p	HITS-CLIP	23824327
MIRT672482	hsa-miR-1255a	HITS-CLIP	23824327
MIRT672481	hsa-miR-1255b-5p	HITS-CLIP	23824327
MIRT672480	hsa-miR-6512-3p	HITS-CLIP	23824327
MIRT672479	hsa-miR-6720-5p	HITS-CLIP	23824327
MIRT672478	hsa-miR-7703	HITS-CLIP	23824327
MIRT623879	hsa-miR-3130-5p	HITS-CLIP	23824327
MIRT623878	hsa-miR-4482-5p	HITS-CLIP	23824327
MIRT623876	hsa-miR-939-3p	HITS-CLIP	23824327
MIRT623875	hsa-miR-1285-3p	HITS-CLIP	23824327
MIRT623874	hsa-miR-3187-5p	HITS-CLIP	23824327
MIRT623873	hsa-miR-5189-5p	HITS-CLIP	23824327
MIRT623872	hsa-miR-612	HITS-CLIP	23824327
MIRT623871	hsa-miR-6860	HITS-CLIP	23824327
MIRT650110	hsa-miR-214-5p	HITS-CLIP	23824327
MIRT650109	hsa-miR-6811-3p	HITS-CLIP	23824327
MIRT650108	hsa-miR-6514-3p	HITS-CLIP	23824327
MIRT650107	hsa-miR-1273e	HITS-CLIP	23824327
MIRT623879	hsa-miR-3130-5p	HITS-CLIP	23824327
MIRT623878	hsa-miR-4482-5p	HITS-CLIP	23824327
MIRT623877	hsa-miR-6849-3p	HITS-CLIP	23824327
MIRT623876	hsa-miR-939-3p	HITS-CLIP	23824327
MIRT623875	hsa-miR-1285-3p	HITS-CLIP	23824327
MIRT623874	hsa-miR-3187-5p	HITS-CLIP	23824327
MIRT623873	hsa-miR-5189-5p	HITS-CLIP	23824327
MIRT623872	hsa-miR-612	HITS-CLIP	23824327
MIRT623871	hsa-miR-6860	HITS-CLIP	23824327
MIRT623870	hsa-miR-661	HITS-CLIP	23824327
MIRT623879	hsa-miR-3130-5p	HITS-CLIP	23824327
MIRT623878	hsa-miR-4482-5p	HITS-CLIP	23824327
MIRT623877	hsa-miR-6849-3p	HITS-CLIP	23824327
MIRT623876	hsa-miR-939-3p	HITS-CLIP	23824327
MIRT623875	hsa-miR-1285-3p	HITS-CLIP	23824327
MIRT623874	hsa-miR-3187-5p	HITS-CLIP	23824327
MIRT623873	hsa-miR-5189-5p	HITS-CLIP	23824327
MIRT623872	hsa-miR-612	HITS-CLIP	23824327
MIRT623871	hsa-miR-6860	HITS-CLIP	23824327
MIRT623870	hsa-miR-661	HITS-CLIP	23824327
MIRT672485	hsa-miR-1254	PAR-CLIP	27292025
MIRT672485	hsa-miR-1254	PAR-CLIP	27292025
MIRT672482	hsa-miR-1255a	PAR-CLIP	27292025
MIRT672482	hsa-miR-1255a	PAR-CLIP	27292025
MIRT672481	hsa-miR-1255b-5p	PAR-CLIP	27292025
MIRT672481	hsa-miR-1255b-5p	PAR-CLIP	27292025
MIRT672484	hsa-miR-3116	PAR-CLIP	27292025
MIRT672484	hsa-miR-3116	PAR-CLIP	27292025
MIRT672486	hsa-miR-4252	PAR-CLIP	27292025
MIRT672488	hsa-miR-4793-3p	PAR-CLIP	27292025
MIRT672488	hsa-miR-4793-3p	PAR-CLIP	27292025
MIRT672490	hsa-miR-508-5p	PAR-CLIP	27292025
MIRT672490	hsa-miR-508-5p	PAR-CLIP	27292025
MIRT672480	hsa-miR-6512-3p	PAR-CLIP	27292025
MIRT672479	hsa-miR-6720-5p	PAR-CLIP	27292025
MIRT672483	hsa-miR-6744-5p	PAR-CLIP	27292025
MIRT672483	hsa-miR-6744-5p	PAR-CLIP	27292025
MIRT623877	hsa-miR-6849-3p	PAR-CLIP	27292025
MIRT672489	hsa-miR-766-3p	PAR-CLIP	27292025
MIRT672478	hsa-miR-7703	PAR-CLIP	27292025
MIRT734661	hsa-miR-133a-5p	Luciferase reporter assay	31736422
MIRT672490	hsa-miR-508-5p	HITS-CLIP	23824327
MIRT672489	hsa-miR-766-3p	HITS-CLIP	23824327
MIRT672488	hsa-miR-4793-3p	HITS-CLIP	23824327
MIRT672487	hsa-miR-4537	HITS-CLIP	23824327
MIRT672486	hsa-miR-4252	HITS-CLIP	23824327
MIRT672485	hsa-miR-1254	HITS-CLIP	23824327
MIRT672484	hsa-miR-3116	HITS-CLIP	23824327
MIRT672483	hsa-miR-6744-5p	HITS-CLIP	23824327
MIRT672482	hsa-miR-1255a	HITS-CLIP	23824327
MIRT672481	hsa-miR-1255b-5p	HITS-CLIP	23824327
MIRT672480	hsa-miR-6512-3p	HITS-CLIP	23824327
MIRT672479	hsa-miR-6720-5p	HITS-CLIP	23824327
MIRT672478	hsa-miR-7703	HITS-CLIP	23824327
MIRT623879	hsa-miR-3130-5p	HITS-CLIP	23824327
MIRT623878	hsa-miR-4482-5p	HITS-CLIP	23824327
MIRT623876	hsa-miR-939-3p	HITS-CLIP	23824327
MIRT623875	hsa-miR-1285-3p	HITS-CLIP	23824327
MIRT623874	hsa-miR-3187-5p	HITS-CLIP	23824327
MIRT623873	hsa-miR-5189-5p	HITS-CLIP	23824327
MIRT623872	hsa-miR-612	HITS-CLIP	23824327
MIRT623871	hsa-miR-6860	HITS-CLIP	23824327
MIRT650110	hsa-miR-214-5p	HITS-CLIP	23824327
MIRT650109	hsa-miR-6811-3p	HITS-CLIP	23824327
MIRT650108	hsa-miR-6514-3p	HITS-CLIP	23824327
MIRT650107	hsa-miR-1273e	HITS-CLIP	23824327
MIRT623879	hsa-miR-3130-5p	HITS-CLIP	23824327
MIRT623878	hsa-miR-4482-5p	HITS-CLIP	23824327
MIRT623877	hsa-miR-6849-3p	HITS-CLIP	23824327
MIRT623876	hsa-miR-939-3p	HITS-CLIP	23824327
MIRT623875	hsa-miR-1285-3p	HITS-CLIP	23824327
MIRT623874	hsa-miR-3187-5p	HITS-CLIP	23824327
MIRT623873	hsa-miR-5189-5p	HITS-CLIP	23824327
MIRT623872	hsa-miR-612	HITS-CLIP	23824327
MIRT623871	hsa-miR-6860	HITS-CLIP	23824327
MIRT623870	hsa-miR-661	HITS-CLIP	23824327
MIRT623879	hsa-miR-3130-5p	HITS-CLIP	23824327
MIRT623878	hsa-miR-4482-5p	HITS-CLIP	23824327
MIRT623877	hsa-miR-6849-3p	HITS-CLIP	23824327
MIRT623876	hsa-miR-939-3p	HITS-CLIP	23824327
MIRT623875	hsa-miR-1285-3p	HITS-CLIP	23824327
MIRT623874	hsa-miR-3187-5p	HITS-CLIP	23824327
MIRT623873	hsa-miR-5189-5p	HITS-CLIP	23824327
MIRT623872	hsa-miR-612	HITS-CLIP	23824327
MIRT623871	hsa-miR-6860	HITS-CLIP	23824327
MIRT623870	hsa-miR-661	HITS-CLIP	23824327
MIRT1006297	hsa-miR-1262	CLIP-seq
MIRT1006298	hsa-miR-1292	CLIP-seq
MIRT1006299	hsa-miR-1303	CLIP-seq
MIRT1006300	hsa-miR-202	CLIP-seq
MIRT1006301	hsa-miR-3121-5p	CLIP-seq
MIRT1006302	hsa-miR-3122	CLIP-seq
MIRT1006303	hsa-miR-3125	CLIP-seq
MIRT1006304	hsa-miR-3165	CLIP-seq
MIRT1006305	hsa-miR-3189-3p	CLIP-seq
MIRT1006306	hsa-miR-3202	CLIP-seq
MIRT1006307	hsa-miR-330-3p	CLIP-seq
MIRT1006308	hsa-miR-338-3p	CLIP-seq
MIRT1006309	hsa-miR-3609	CLIP-seq
MIRT1006310	hsa-miR-3613-3p	CLIP-seq
MIRT1006311	hsa-miR-3622a-3p	CLIP-seq
MIRT1006312	hsa-miR-3622b-3p	CLIP-seq
MIRT1006313	hsa-miR-3665	CLIP-seq
MIRT1006314	hsa-miR-3689a-3p	CLIP-seq
MIRT1006315	hsa-miR-3689c	CLIP-seq
MIRT1006316	hsa-miR-3714	CLIP-seq
MIRT1006317	hsa-miR-374c	CLIP-seq
MIRT1006318	hsa-miR-376c	CLIP-seq
MIRT1006319	hsa-miR-383	CLIP-seq
MIRT1006320	hsa-miR-3913-5p	CLIP-seq
MIRT1006321	hsa-miR-3916	CLIP-seq
MIRT1006322	hsa-miR-4257	CLIP-seq
MIRT1006323	hsa-miR-4271	CLIP-seq
MIRT1006324	hsa-miR-4275	CLIP-seq
MIRT1006325	hsa-miR-4471	CLIP-seq
MIRT1006326	hsa-miR-4506	CLIP-seq
MIRT1006327	hsa-miR-452	CLIP-seq
MIRT1006328	hsa-miR-4530	CLIP-seq
MIRT1006329	hsa-miR-4533	CLIP-seq
MIRT1006330	hsa-miR-4639-3p	CLIP-seq
MIRT1006331	hsa-miR-4676-3p	CLIP-seq
MIRT1006332	hsa-miR-4701-3p	CLIP-seq
MIRT1006333	hsa-miR-4716-3p	CLIP-seq
MIRT1006334	hsa-miR-4725-3p	CLIP-seq
MIRT1006335	hsa-miR-4728-5p	CLIP-seq
MIRT1006336	hsa-miR-4736	CLIP-seq
MIRT1006337	hsa-miR-4772-5p	CLIP-seq
MIRT1006338	hsa-miR-501-5p	CLIP-seq
MIRT1006339	hsa-miR-544b	CLIP-seq
MIRT1006340	hsa-miR-548ac	CLIP-seq
MIRT1006341	hsa-miR-548ah	CLIP-seq
MIRT1006342	hsa-miR-548c-3p	CLIP-seq
MIRT1006343	hsa-miR-548d-3p	CLIP-seq
MIRT1006344	hsa-miR-548z	CLIP-seq
MIRT1006345	hsa-miR-625	CLIP-seq
MIRT1006346	hsa-miR-655	CLIP-seq
MIRT1006347	hsa-miR-873	CLIP-seq
MIRT1006348	hsa-miR-940	CLIP-seq
MIRT1006349	hsa-miR-1207-5p	CLIP-seq
MIRT1006350	hsa-miR-1225-5p	CLIP-seq
MIRT1006351	hsa-miR-1228	CLIP-seq
MIRT1006352	hsa-miR-1252	CLIP-seq
MIRT1006353	hsa-miR-1255b	CLIP-seq
MIRT1006297	hsa-miR-1262	CLIP-seq
MIRT1006354	hsa-miR-1285	CLIP-seq
MIRT1006298	hsa-miR-1292	CLIP-seq
MIRT1006355	hsa-miR-1304	CLIP-seq
MIRT1006356	hsa-miR-139-5p	CLIP-seq
MIRT1006357	hsa-miR-141	CLIP-seq
MIRT1006358	hsa-miR-145	CLIP-seq
MIRT1006359	hsa-miR-1827	CLIP-seq
MIRT1006360	hsa-miR-200a	CLIP-seq
MIRT1006300	hsa-miR-202	CLIP-seq
MIRT1006361	hsa-miR-224	CLIP-seq
MIRT1006362	hsa-miR-2355-5p	CLIP-seq
MIRT1006363	hsa-miR-2467-3p	CLIP-seq
MIRT1006364	hsa-miR-3064-3p	CLIP-seq
MIRT1006365	hsa-miR-3074-5p	CLIP-seq
MIRT1006302	hsa-miR-3122	CLIP-seq
MIRT1006303	hsa-miR-3125	CLIP-seq
MIRT1006366	hsa-miR-3129-3p	CLIP-seq
MIRT1006367	hsa-miR-3136-3p	CLIP-seq
MIRT1006304	hsa-miR-3165	CLIP-seq
MIRT1006368	hsa-miR-3174	CLIP-seq
MIRT1006369	hsa-miR-3177-5p	CLIP-seq
MIRT1006305	hsa-miR-3189-3p	CLIP-seq
MIRT1006306	hsa-miR-3202	CLIP-seq
MIRT1006307	hsa-miR-330-3p	CLIP-seq
MIRT1006370	hsa-miR-342-3p	CLIP-seq
MIRT1006310	hsa-miR-3613-3p	CLIP-seq
MIRT1006371	hsa-miR-3614-5p	CLIP-seq
MIRT1006372	hsa-miR-3617	CLIP-seq
MIRT1006311	hsa-miR-3622a-3p	CLIP-seq
MIRT1006312	hsa-miR-3622b-3p	CLIP-seq
MIRT1006373	hsa-miR-3622b-5p	CLIP-seq
MIRT1006374	hsa-miR-3662	CLIP-seq
MIRT1006313	hsa-miR-3665	CLIP-seq
MIRT1006375	hsa-miR-3672	CLIP-seq
MIRT1006314	hsa-miR-3689a-3p	CLIP-seq
MIRT1006315	hsa-miR-3689c	CLIP-seq
MIRT1006376	hsa-miR-370	CLIP-seq
MIRT1006316	hsa-miR-3714	CLIP-seq
MIRT1006318	hsa-miR-376c	CLIP-seq
MIRT1006319	hsa-miR-383	CLIP-seq
MIRT1006377	hsa-miR-3908	CLIP-seq
MIRT1006320	hsa-miR-3913-5p	CLIP-seq
MIRT1006321	hsa-miR-3916	CLIP-seq
MIRT1006378	hsa-miR-3927	CLIP-seq
MIRT1006379	hsa-miR-3929	CLIP-seq
MIRT1006380	hsa-miR-3940-5p	CLIP-seq
MIRT1006381	hsa-miR-3945	CLIP-seq
MIRT1006382	hsa-miR-3975	CLIP-seq
MIRT1006383	hsa-miR-4253	CLIP-seq
MIRT1006322	hsa-miR-4257	CLIP-seq
MIRT1006324	hsa-miR-4275	CLIP-seq
MIRT1006384	hsa-miR-4276	CLIP-seq
MIRT1006385	hsa-miR-4278	CLIP-seq
MIRT1006386	hsa-miR-4282	CLIP-seq
MIRT1006387	hsa-miR-4419b	CLIP-seq
MIRT1006388	hsa-miR-4433	CLIP-seq
MIRT1006389	hsa-miR-4436a	CLIP-seq
MIRT1006390	hsa-miR-4459	CLIP-seq
MIRT1006391	hsa-miR-4463	CLIP-seq
MIRT1006325	hsa-miR-4471	CLIP-seq
MIRT1006392	hsa-miR-4474-5p	CLIP-seq
MIRT1006393	hsa-miR-4478	CLIP-seq
MIRT1006394	hsa-miR-4493	CLIP-seq
MIRT1006326	hsa-miR-4506	CLIP-seq
MIRT1006395	hsa-miR-4507	CLIP-seq
MIRT1006396	hsa-miR-4509	CLIP-seq
MIRT1006397	hsa-miR-4514	CLIP-seq
MIRT1006329	hsa-miR-4533	CLIP-seq
MIRT1006398	hsa-miR-4646-5p	CLIP-seq
MIRT1006399	hsa-miR-4649-3p	CLIP-seq
MIRT1006400	hsa-miR-4666-5p	CLIP-seq
MIRT1006401	hsa-miR-4679	CLIP-seq
MIRT1006402	hsa-miR-4692	CLIP-seq
MIRT1006403	hsa-miR-4693-3p	CLIP-seq
MIRT1006404	hsa-miR-4695-5p	CLIP-seq
MIRT1006405	hsa-miR-4700-3p	CLIP-seq
MIRT1006332	hsa-miR-4701-3p	CLIP-seq
MIRT1006335	hsa-miR-4728-5p	CLIP-seq
MIRT1006406	hsa-miR-4731-5p	CLIP-seq
MIRT1006336	hsa-miR-4736	CLIP-seq
MIRT1006407	hsa-miR-4747-5p	CLIP-seq
MIRT1006408	hsa-miR-4763-3p	CLIP-seq
MIRT1006409	hsa-miR-4768-3p	CLIP-seq
MIRT1006337	hsa-miR-4772-5p	CLIP-seq
MIRT1006410	hsa-miR-485-5p	CLIP-seq
MIRT1006411	hsa-miR-520d-5p	CLIP-seq
MIRT1006412	hsa-miR-522	CLIP-seq
MIRT1006413	hsa-miR-524-5p	CLIP-seq
MIRT1006414	hsa-miR-541	CLIP-seq
MIRT1006415	hsa-miR-544	CLIP-seq
MIRT1006339	hsa-miR-544b	CLIP-seq
MIRT1006416	hsa-miR-548aa	CLIP-seq
MIRT1006340	hsa-miR-548ac	CLIP-seq
MIRT1006343	hsa-miR-548d-3p	CLIP-seq
MIRT1006417	hsa-miR-548m	CLIP-seq
MIRT1006418	hsa-miR-548v	CLIP-seq
MIRT1006344	hsa-miR-548z	CLIP-seq
MIRT1006419	hsa-miR-615-5p	CLIP-seq
MIRT1006420	hsa-miR-635	CLIP-seq
MIRT1006421	hsa-miR-641	CLIP-seq
MIRT1006422	hsa-miR-654-5p	CLIP-seq
MIRT1006423	hsa-miR-663b	CLIP-seq
MIRT1006424	hsa-miR-665	CLIP-seq
MIRT1006425	hsa-miR-7	CLIP-seq
MIRT1006426	hsa-miR-766	CLIP-seq
MIRT1006427	hsa-miR-767-3p	CLIP-seq
MIRT1006428	hsa-miR-769-5p	CLIP-seq
MIRT1006347	hsa-miR-873	CLIP-seq
MIRT1006348	hsa-miR-940	CLIP-seq
MIRT1006371	hsa-miR-3614-5p	CLIP-seq
MIRT1006350	hsa-miR-1225-5p	CLIP-seq
MIRT1006297	hsa-miR-1262	CLIP-seq
MIRT1006357	hsa-miR-141	CLIP-seq
MIRT1006359	hsa-miR-1827	CLIP-seq
MIRT1006360	hsa-miR-200a	CLIP-seq
MIRT1006300	hsa-miR-202	CLIP-seq
MIRT1998219	hsa-miR-2114	CLIP-seq
MIRT1006302	hsa-miR-3122	CLIP-seq
MIRT1006303	hsa-miR-3125	CLIP-seq
MIRT1006367	hsa-miR-3136-3p	CLIP-seq
MIRT1998220	hsa-miR-3145-5p	CLIP-seq
MIRT1006304	hsa-miR-3165	CLIP-seq
MIRT1006305	hsa-miR-3189-3p	CLIP-seq
MIRT1998221	hsa-miR-3192	CLIP-seq
MIRT1006306	hsa-miR-3202	CLIP-seq
MIRT1998222	hsa-miR-320a	CLIP-seq
MIRT1998223	hsa-miR-320b	CLIP-seq
MIRT1998224	hsa-miR-320c	CLIP-seq
MIRT1998225	hsa-miR-320d	CLIP-seq
MIRT1998226	hsa-miR-326	CLIP-seq
MIRT1998227	hsa-miR-330-5p	CLIP-seq
MIRT1006308	hsa-miR-338-3p	CLIP-seq
MIRT1006310	hsa-miR-3613-3p	CLIP-seq
MIRT1006311	hsa-miR-3622a-3p	CLIP-seq
MIRT1006312	hsa-miR-3622b-3p	CLIP-seq
MIRT1006313	hsa-miR-3665	CLIP-seq
MIRT1006314	hsa-miR-3689a-3p	CLIP-seq
MIRT1006315	hsa-miR-3689c	CLIP-seq
MIRT1006316	hsa-miR-3714	CLIP-seq
MIRT1006318	hsa-miR-376c	CLIP-seq
MIRT1006319	hsa-miR-383	CLIP-seq
MIRT1006320	hsa-miR-3913-5p	CLIP-seq
MIRT1006321	hsa-miR-3916	CLIP-seq
MIRT1998228	hsa-miR-3926	CLIP-seq
MIRT1998229	hsa-miR-3928	CLIP-seq
MIRT1006379	hsa-miR-3929	CLIP-seq
MIRT1006322	hsa-miR-4257	CLIP-seq
MIRT1006323	hsa-miR-4271	CLIP-seq
MIRT1006324	hsa-miR-4275	CLIP-seq
MIRT1006386	hsa-miR-4282	CLIP-seq
MIRT1998230	hsa-miR-4314	CLIP-seq
MIRT1006387	hsa-miR-4419b	CLIP-seq
MIRT1998231	hsa-miR-4424	CLIP-seq
MIRT1998232	hsa-miR-4429	CLIP-seq
MIRT1006388	hsa-miR-4433	CLIP-seq
MIRT1006389	hsa-miR-4436a	CLIP-seq
MIRT1006390	hsa-miR-4459	CLIP-seq
MIRT1006392	hsa-miR-4474-5p	CLIP-seq
MIRT1006393	hsa-miR-4478	CLIP-seq
MIRT1006328	hsa-miR-4530	CLIP-seq
MIRT1006329	hsa-miR-4533	CLIP-seq
MIRT1006398	hsa-miR-4646-5p	CLIP-seq
MIRT1998233	hsa-miR-4653-3p	CLIP-seq
MIRT1006403	hsa-miR-4693-3p	CLIP-seq
MIRT1006405	hsa-miR-4700-3p	CLIP-seq
MIRT1006332	hsa-miR-4701-3p	CLIP-seq
MIRT1006333	hsa-miR-4716-3p	CLIP-seq
MIRT1006334	hsa-miR-4725-3p	CLIP-seq
MIRT1006335	hsa-miR-4728-5p	CLIP-seq
MIRT1006336	hsa-miR-4736	CLIP-seq
MIRT1006409	hsa-miR-4768-3p	CLIP-seq
MIRT1006337	hsa-miR-4772-5p	CLIP-seq
MIRT1998234	hsa-miR-4796-3p	CLIP-seq
MIRT1006410	hsa-miR-485-5p	CLIP-seq
MIRT1998235	hsa-miR-520a-5p	CLIP-seq
MIRT1006411	hsa-miR-520d-5p	CLIP-seq
MIRT1998236	hsa-miR-520g	CLIP-seq
MIRT1998237	hsa-miR-520h	CLIP-seq
MIRT1006413	hsa-miR-524-5p	CLIP-seq
MIRT1998238	hsa-miR-525-5p	CLIP-seq
MIRT1006414	hsa-miR-541	CLIP-seq
MIRT1006339	hsa-miR-544b	CLIP-seq
MIRT1006340	hsa-miR-548ac	CLIP-seq
MIRT1006342	hsa-miR-548c-3p	CLIP-seq
MIRT1006343	hsa-miR-548d-3p	CLIP-seq
MIRT1006344	hsa-miR-548z	CLIP-seq
MIRT1998239	hsa-miR-579	CLIP-seq
MIRT1006345	hsa-miR-625	CLIP-seq
MIRT1006422	hsa-miR-654-5p	CLIP-seq
MIRT1006347	hsa-miR-873	CLIP-seq
MIRT1006348	hsa-miR-940	CLIP-seq
MIRT1006310	hsa-miR-3613-3p	CLIP-seq
MIRT1006357	hsa-miR-141	CLIP-seq
MIRT1006360	hsa-miR-200a	CLIP-seq
MIRT1006350	hsa-miR-1225-5p	CLIP-seq
MIRT1006351	hsa-miR-1228	CLIP-seq
MIRT1006297	hsa-miR-1262	CLIP-seq
MIRT1006354	hsa-miR-1285	CLIP-seq
MIRT1006357	hsa-miR-141	CLIP-seq
MIRT1006359	hsa-miR-1827	CLIP-seq
MIRT1006360	hsa-miR-200a	CLIP-seq
MIRT2231822	hsa-miR-2117	CLIP-seq
MIRT1006302	hsa-miR-3122	CLIP-seq
MIRT2231823	hsa-miR-3144-5p	CLIP-seq
MIRT1006304	hsa-miR-3165	CLIP-seq
MIRT2231824	hsa-miR-3180-5p	CLIP-seq
MIRT1006305	hsa-miR-3189-3p	CLIP-seq
MIRT1006306	hsa-miR-3202	CLIP-seq
MIRT1998222	hsa-miR-320a	CLIP-seq
MIRT1998223	hsa-miR-320b	CLIP-seq
MIRT1998224	hsa-miR-320c	CLIP-seq
MIRT1998225	hsa-miR-320d	CLIP-seq
MIRT1006308	hsa-miR-338-3p	CLIP-seq
MIRT1006309	hsa-miR-3609	CLIP-seq
MIRT1006310	hsa-miR-3613-3p	CLIP-seq
MIRT1006371	hsa-miR-3614-5p	CLIP-seq
MIRT2231825	hsa-miR-3616-3p	CLIP-seq
MIRT1006311	hsa-miR-3622a-3p	CLIP-seq
MIRT1006312	hsa-miR-3622b-3p	CLIP-seq
MIRT1006313	hsa-miR-3665	CLIP-seq
MIRT1006314	hsa-miR-3689a-3p	CLIP-seq
MIRT1006315	hsa-miR-3689c	CLIP-seq
MIRT1006316	hsa-miR-3714	CLIP-seq
MIRT1006318	hsa-miR-376c	CLIP-seq
MIRT1006319	hsa-miR-383	CLIP-seq
MIRT1006320	hsa-miR-3913-5p	CLIP-seq
MIRT1998228	hsa-miR-3926	CLIP-seq
MIRT1006379	hsa-miR-3929	CLIP-seq
MIRT2231826	hsa-miR-4273	CLIP-seq
MIRT1006387	hsa-miR-4419b	CLIP-seq
MIRT1998231	hsa-miR-4424	CLIP-seq
MIRT1998232	hsa-miR-4429	CLIP-seq
MIRT1006388	hsa-miR-4433	CLIP-seq
MIRT1006389	hsa-miR-4436a	CLIP-seq
MIRT1006390	hsa-miR-4459	CLIP-seq
MIRT1006393	hsa-miR-4478	CLIP-seq
MIRT2231827	hsa-miR-4482	CLIP-seq
MIRT1006397	hsa-miR-4514	CLIP-seq
MIRT1006328	hsa-miR-4530	CLIP-seq
MIRT1006329	hsa-miR-4533	CLIP-seq
MIRT1006399	hsa-miR-4649-3p	CLIP-seq
MIRT1998233	hsa-miR-4653-3p	CLIP-seq
MIRT1006401	hsa-miR-4679	CLIP-seq
MIRT1006402	hsa-miR-4692	CLIP-seq
MIRT1006403	hsa-miR-4693-3p	CLIP-seq
MIRT1006405	hsa-miR-4700-3p	CLIP-seq
MIRT1006332	hsa-miR-4701-3p	CLIP-seq
MIRT2231828	hsa-miR-4711-5p	CLIP-seq
MIRT1006335	hsa-miR-4728-5p	CLIP-seq
MIRT1006336	hsa-miR-4736	CLIP-seq
MIRT2231829	hsa-miR-4761-3p	CLIP-seq
MIRT1006409	hsa-miR-4768-3p	CLIP-seq
MIRT2231830	hsa-miR-4768-5p	CLIP-seq
MIRT1006337	hsa-miR-4772-5p	CLIP-seq
MIRT1006410	hsa-miR-485-5p	CLIP-seq
MIRT2231831	hsa-miR-490-3p	CLIP-seq
MIRT2231832	hsa-miR-499-3p	CLIP-seq
MIRT2231833	hsa-miR-499a-3p	CLIP-seq
MIRT1998235	hsa-miR-520a-5p	CLIP-seq
MIRT1998238	hsa-miR-525-5p	CLIP-seq
MIRT1006339	hsa-miR-544b	CLIP-seq
MIRT1006340	hsa-miR-548ac	CLIP-seq
MIRT1006341	hsa-miR-548ah	CLIP-seq
MIRT1006343	hsa-miR-548d-3p	CLIP-seq
MIRT2231834	hsa-miR-548s	CLIP-seq
MIRT1006344	hsa-miR-548z	CLIP-seq
MIRT1006426	hsa-miR-766	CLIP-seq
MIRT1006347	hsa-miR-873	CLIP-seq
MIRT1006348	hsa-miR-940	CLIP-seq
MIRT1006351	hsa-miR-1228	CLIP-seq
MIRT1006353	hsa-miR-1255b	CLIP-seq
MIRT1006297	hsa-miR-1262	CLIP-seq
MIRT1006354	hsa-miR-1285	CLIP-seq
MIRT1006298	hsa-miR-1292	CLIP-seq
MIRT1006359	hsa-miR-1827	CLIP-seq
MIRT1006300	hsa-miR-202	CLIP-seq
MIRT1006302	hsa-miR-3122	CLIP-seq
MIRT2231823	hsa-miR-3144-5p	CLIP-seq
MIRT1006305	hsa-miR-3189-3p	CLIP-seq
MIRT1006310	hsa-miR-3613-3p	CLIP-seq
MIRT2231825	hsa-miR-3616-3p	CLIP-seq
MIRT1006311	hsa-miR-3622a-3p	CLIP-seq
MIRT1006312	hsa-miR-3622b-3p	CLIP-seq
MIRT2388248	hsa-miR-3664-5p	CLIP-seq
MIRT1006313	hsa-miR-3665	CLIP-seq
MIRT2388249	hsa-miR-3667-5p	CLIP-seq
MIRT1006314	hsa-miR-3689a-3p	CLIP-seq
MIRT1006315	hsa-miR-3689c	CLIP-seq
MIRT1006316	hsa-miR-3714	CLIP-seq
MIRT1006318	hsa-miR-376c	CLIP-seq
MIRT1006319	hsa-miR-383	CLIP-seq
MIRT1006320	hsa-miR-3913-5p	CLIP-seq
MIRT1006379	hsa-miR-3929	CLIP-seq
MIRT1006322	hsa-miR-4257	CLIP-seq
MIRT1006324	hsa-miR-4275	CLIP-seq
MIRT1006387	hsa-miR-4419b	CLIP-seq
MIRT1006390	hsa-miR-4459	CLIP-seq
MIRT1006325	hsa-miR-4471	CLIP-seq
MIRT1006393	hsa-miR-4478	CLIP-seq
MIRT1006326	hsa-miR-4506	CLIP-seq
MIRT1006328	hsa-miR-4530	CLIP-seq
MIRT1006399	hsa-miR-4649-3p	CLIP-seq
MIRT1006401	hsa-miR-4679	CLIP-seq
MIRT1006332	hsa-miR-4701-3p	CLIP-seq
MIRT2231828	hsa-miR-4711-5p	CLIP-seq
MIRT1006335	hsa-miR-4728-5p	CLIP-seq
MIRT1006336	hsa-miR-4736	CLIP-seq
MIRT2231829	hsa-miR-4761-3p	CLIP-seq
MIRT1006337	hsa-miR-4772-5p	CLIP-seq
MIRT1006410	hsa-miR-485-5p	CLIP-seq
MIRT1006339	hsa-miR-544b	CLIP-seq
MIRT1006340	hsa-miR-548ac	CLIP-seq
MIRT1006342	hsa-miR-548c-3p	CLIP-seq
MIRT1006343	hsa-miR-548d-3p	CLIP-seq
MIRT1006344	hsa-miR-548z	CLIP-seq
MIRT1006426	hsa-miR-766	CLIP-seq
MIRT1006348	hsa-miR-940	CLIP-seq
MIRT1006351	hsa-miR-1228	CLIP-seq
MIRT1006359	hsa-miR-1827	CLIP-seq
MIRT1006302	hsa-miR-3122	CLIP-seq
MIRT1006304	hsa-miR-3165	CLIP-seq
MIRT1006308	hsa-miR-338-3p	CLIP-seq
MIRT1006313	hsa-miR-3665	CLIP-seq
MIRT1006314	hsa-miR-3689a-3p	CLIP-seq
MIRT1006315	hsa-miR-3689c	CLIP-seq
MIRT1006316	hsa-miR-3714	CLIP-seq
MIRT1006320	hsa-miR-3913-5p	CLIP-seq
MIRT1006379	hsa-miR-3929	CLIP-seq
MIRT1006387	hsa-miR-4419b	CLIP-seq
MIRT1006393	hsa-miR-4478	CLIP-seq
MIRT1006397	hsa-miR-4514	CLIP-seq
MIRT1006328	hsa-miR-4530	CLIP-seq
MIRT1006399	hsa-miR-4649-3p	CLIP-seq
MIRT1006401	hsa-miR-4679	CLIP-seq
MIRT1006402	hsa-miR-4692	CLIP-seq
MIRT1006335	hsa-miR-4728-5p	CLIP-seq
MIRT1006336	hsa-miR-4736	CLIP-seq
MIRT1006410	hsa-miR-485-5p	CLIP-seq
MIRT1006348	hsa-miR-940	CLIP-seq
MIRT1006351	hsa-miR-1228	CLIP-seq
MIRT1006354	hsa-miR-1285	CLIP-seq
MIRT2535847	hsa-miR-1323	CLIP-seq
MIRT1006359	hsa-miR-1827	CLIP-seq
MIRT1998219	hsa-miR-2114	CLIP-seq
MIRT2535848	hsa-miR-25	CLIP-seq
MIRT2535849	hsa-miR-3120-5p	CLIP-seq
MIRT1006302	hsa-miR-3122	CLIP-seq
MIRT1006304	hsa-miR-3165	CLIP-seq
MIRT2535850	hsa-miR-32	CLIP-seq
MIRT2535851	hsa-miR-335	CLIP-seq
MIRT1006308	hsa-miR-338-3p	CLIP-seq
MIRT1006310	hsa-miR-3613-3p	CLIP-seq
MIRT1006311	hsa-miR-3622a-3p	CLIP-seq
MIRT1006312	hsa-miR-3622b-3p	CLIP-seq
MIRT1006373	hsa-miR-3622b-5p	CLIP-seq
MIRT2535852	hsa-miR-363	CLIP-seq
MIRT2388248	hsa-miR-3664-5p	CLIP-seq
MIRT1006313	hsa-miR-3665	CLIP-seq
MIRT2388249	hsa-miR-3667-5p	CLIP-seq
MIRT2535853	hsa-miR-367	CLIP-seq
MIRT1006314	hsa-miR-3689a-3p	CLIP-seq
MIRT1006315	hsa-miR-3689c	CLIP-seq
MIRT1006316	hsa-miR-3714	CLIP-seq
MIRT2535854	hsa-miR-371-5p	CLIP-seq
MIRT2535855	hsa-miR-371b-5p	CLIP-seq
MIRT1006320	hsa-miR-3913-5p	CLIP-seq
MIRT1006379	hsa-miR-3929	CLIP-seq
MIRT1006381	hsa-miR-3945	CLIP-seq
MIRT1006383	hsa-miR-4253	CLIP-seq
MIRT2535856	hsa-miR-4325	CLIP-seq
MIRT1006387	hsa-miR-4419b	CLIP-seq
MIRT1006393	hsa-miR-4478	CLIP-seq
MIRT1006397	hsa-miR-4514	CLIP-seq
MIRT1006328	hsa-miR-4530	CLIP-seq
MIRT1006399	hsa-miR-4649-3p	CLIP-seq
MIRT1006401	hsa-miR-4679	CLIP-seq
MIRT1006402	hsa-miR-4692	CLIP-seq
MIRT1006403	hsa-miR-4693-3p	CLIP-seq
MIRT1006335	hsa-miR-4728-5p	CLIP-seq
MIRT1006336	hsa-miR-4736	CLIP-seq
MIRT1006410	hsa-miR-485-5p	CLIP-seq
MIRT1006342	hsa-miR-548c-3p	CLIP-seq
MIRT2535857	hsa-miR-548o	CLIP-seq
MIRT2535858	hsa-miR-548p	CLIP-seq
MIRT2535859	hsa-miR-593	CLIP-seq
MIRT1006426	hsa-miR-766	CLIP-seq
MIRT2535860	hsa-miR-890	CLIP-seq
MIRT2535861	hsa-miR-92a	CLIP-seq
MIRT2535862	hsa-miR-92b	CLIP-seq
MIRT1006348	hsa-miR-940	CLIP-seq
MIRT1006351	hsa-miR-1228	CLIP-seq
MIRT1006354	hsa-miR-1285	CLIP-seq
MIRT2535847	hsa-miR-1323	CLIP-seq
MIRT1006359	hsa-miR-1827	CLIP-seq
MIRT2535848	hsa-miR-25	CLIP-seq
MIRT2535849	hsa-miR-3120-5p	CLIP-seq
MIRT1006302	hsa-miR-3122	CLIP-seq
MIRT1006304	hsa-miR-3165	CLIP-seq
MIRT2535850	hsa-miR-32	CLIP-seq
MIRT2535851	hsa-miR-335	CLIP-seq
MIRT1006308	hsa-miR-338-3p	CLIP-seq
MIRT1006310	hsa-miR-3613-3p	CLIP-seq
MIRT1006311	hsa-miR-3622a-3p	CLIP-seq
MIRT1006312	hsa-miR-3622b-3p	CLIP-seq
MIRT1006373	hsa-miR-3622b-5p	CLIP-seq
MIRT2535852	hsa-miR-363	CLIP-seq
MIRT2388248	hsa-miR-3664-5p	CLIP-seq
MIRT1006313	hsa-miR-3665	CLIP-seq
MIRT2388249	hsa-miR-3667-5p	CLIP-seq
MIRT2535853	hsa-miR-367	CLIP-seq
MIRT1006314	hsa-miR-3689a-3p	CLIP-seq
MIRT1006315	hsa-miR-3689c	CLIP-seq
MIRT1006316	hsa-miR-3714	CLIP-seq
MIRT2535854	hsa-miR-371-5p	CLIP-seq
MIRT2535855	hsa-miR-371b-5p	CLIP-seq
MIRT1006320	hsa-miR-3913-5p	CLIP-seq
MIRT1006379	hsa-miR-3929	CLIP-seq
MIRT1006381	hsa-miR-3945	CLIP-seq
MIRT1006383	hsa-miR-4253	CLIP-seq
MIRT2535856	hsa-miR-4325	CLIP-seq
MIRT1006387	hsa-miR-4419b	CLIP-seq
MIRT1006393	hsa-miR-4478	CLIP-seq
MIRT1006397	hsa-miR-4514	CLIP-seq
MIRT1006328	hsa-miR-4530	CLIP-seq
MIRT1006399	hsa-miR-4649-3p	CLIP-seq
MIRT1006401	hsa-miR-4679	CLIP-seq
MIRT1006402	hsa-miR-4692	CLIP-seq
MIRT1006335	hsa-miR-4728-5p	CLIP-seq
MIRT1006336	hsa-miR-4736	CLIP-seq
MIRT1006410	hsa-miR-485-5p	CLIP-seq
MIRT1006342	hsa-miR-548c-3p	CLIP-seq
MIRT2535857	hsa-miR-548o	CLIP-seq
MIRT2535858	hsa-miR-548p	CLIP-seq
MIRT2535859	hsa-miR-593	CLIP-seq
MIRT1006426	hsa-miR-766	CLIP-seq
MIRT2535861	hsa-miR-92a	CLIP-seq
MIRT2535862	hsa-miR-92b	CLIP-seq
MIRT1006348	hsa-miR-940	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
GTF3A	Unknown	12364590
TBP	Repression	19841068
TP53	Unknown	12364590

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003676	Function	Nucleic acid binding	IEA
GO:0003677	Function	DNA binding	IEA
GO:0003682	Function	Chromatin binding	IDA	25453086, 27731383
GO:0003712	Function	Transcription coregulator activity	IBA
GO:0003713	Function	Transcription coactivator activity	IDA	21909421
GO:0003723	Function	RNA binding	EXP	29677513
GO:0003723	Function	RNA binding	HDA	22658674, 22681889
GO:0003723	Function	RNA binding	IBA
GO:0003723	Function	RNA binding	IDA	27378374
GO:0003723	Function	RNA binding	IEA
GO:0003723	Function	RNA binding	IPI	38070499
GO:0003723	Function	RNA binding	TAS	8510758
GO:0003730	Function	MRNA 3'-UTR binding	IEA
GO:0005515	Function	Protein binding	IPI	9774382, 16169070, 18509338, 18954305, 20085233, 21988832, 22240165, 22778397, 23152885, 23232809, 23681068, 23975937, 26124092, 27460707, 27615052, 27731383, 30354839, 32814053, 34316702, 35271311
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IDA	16365397, 21909421, 27731383
GO:0005634	Component	Nucleus	IEA
GO:0005634	Component	Nucleus	TAS	8510758
GO:0005654	Component	Nucleoplasm	IDA	38070499
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005737	Component	Cytoplasm	IEA
GO:0006355	Process	Regulation of DNA-templated transcription	IDA	26124092
GO:0006355	Process	Regulation of DNA-templated transcription	IEA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IDA	25453086
GO:0008270	Function	Zinc ion binding	IEA
GO:0008380	Process	RNA splicing	IDA	26124092
GO:0008380	Process	RNA splicing	IEA
GO:0008380	Process	RNA splicing	IEA
GO:0010467	Process	Gene expression	IEA
GO:0042802	Function	Identical protein binding	IPI	18509338, 23975937, 29439243, 29610493
GO:0043484	Process	Regulation of RNA splicing	IDA	25453086, 27731383
GO:0045893	Process	Positive regulation of DNA-templated transcription	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0048255	Process	MRNA stabilization	IDA	27378374
GO:0051260	Process	Protein homooligomerization	IDA	25453086
GO:0098978	Component	Glutamatergic synapse	IEA
GO:0098982	Component	GABA-ergic synapse	IEA
GO:0099523	Component	Presynaptic cytosol	IEA
GO:0099524	Component	Postsynaptic cytosol	IEA
GO:0140693	Function	Molecular condensate scaffold activity	EXP	38070499
GO:0140693	Function	Molecular condensate scaffold activity	IDA	26317470, 26455390, 29677513, 38070499
GO:0140693	Function	Molecular condensate scaffold activity	IMP	38070499
GO:0140694	Process	Membraneless organelle assembly	IDA	38070499
GO:1905168	Process	Positive regulation of double-strand break repair via homologous recombination	IDA	10567410
GO:1990000	Process	Amyloid fibril formation	EXP	28942918
GO:1990000	Process	Amyloid fibril formation	IDA	22579281

Other IDs

• MIM: 137070
• HGNC: 4010
• e!Ensembl: ENSG00000089280

Protein

• UniProt ID: P35637
• Protein name: RNA-binding protein FUS (75 kDa DNA-pairing protein) (Oncogene FUS) (Oncogene TLS) (POMp75) (Translocated in liposarcoma protein)
• Protein function: DNA/RNA-binding protein that plays a role in various cellular processes such as transcription regulation, RNA splicing, RNA transport, DNA repair and damage response (PubMed:27731383). Binds to ssRNA containing the consensus sequence 5'-AGGUAA-3
• PDB: 2LA6, 2LCW, 4FDD, 4FQ3, 5W3N, 5XRR, 5XSG, 5YVG, 5YVH, 5YVI, 6BWZ, 6BXV, 6BZP, 6G99, 6GBM, 6KJ1, 6KJ2, 6KJ3, 6KJ4, 6SNJ, 6XFM, 7CYL, 7VQQ
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00076	RRM_1	287 → 365	RNA recognition motif. (a.k.a. RRM, RBD, or RNP domain)	Domain
  PF00641	zf-RanBP	422 → 453	Zn-finger in Ran binding protein and others	Domain

• Tissue specificity: TISSUE SPECIFICITY: Ubiquitous.
• Sequence:

  MASNDYTQQATQSYGAYPTQPGQGYSQQSSQPYGQQSYSGYSQSTDTSGYGQSSYSSYGQ
  SQNTGYGTQSTPQGYGSTGGYGSSQSSQSSYGQQSSYPGYGQQPAPSSTSGSYGSSSQSS
  SYGQPQSGSYSQQPSYGGQQQSYGQQQSYNPPQGYGQQNQYNSSSGGGGGGGGGGNYGQD
  QSSMSSGGGSGGGYGNQDQSGGGGSGGYGQQDRGGRGRGGSGGGGGGGGGGYNRSSGGYE
  PRGRGGGRGGRGGMGGSDRGGFNKFGGPRDQGSRHDSEQDNSDNNTIFVQGLGENVTIES
  VADYFKQIGIIKTNKKTGQPMINLYTDRETGKLKGEATVSFDDPPSAKAAIDWFDGKEFS
  GNPIKVSFATRRADFNRGGGNGRGGRGRGGPMGRGGYGGGGSGGGGRGGFPSGGGGGGGQ
  QRAGDWKCPNPTCENMNFSWRNECNQCKAPKPDGPGGGPGGSHMGGNYGDDRRGGRGGYD
  RGGYRGRGGDRGGFRGGRGGGDRGGFGPGKMDSRGEHRQDRRERPY

• Sequence length: 526

Pathways

KEGG:

mRNA surveillance pathway
Spliceosome
Amyotrophic lateral sclerosis
Pathways of neurodegeneration - multiple diseases
Transcriptional misregulation in cancer

Reactome:

mRNA Splicing - Major Pathway

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
Amyotrophic lateral sclerosis 6, autosomal recessive	Pathogenic	rs121909667	RCV000017608	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Amyotrophic lateral sclerosis type 6	Pathogenic; Likely pathogenic	rs2144142389, rs1596914113, rs2144138894, rs2144140268, rs1596912983, rs2544279075, rs2544251972, rs1555509699, rs2544279181, rs886041390, rs1555509605, rs1555509609, rs2544279594, rs121909668, rs121909669, rs121909671, rs387906627, rs387906628, rs1555509569, rs2079351113, rs1567479067, rs544088874, rs2079347087, rs2079350332	RCV001386161 RCV001808069 RCV002008546 RCV001954906 RCV001956250 RCV003112340 RCV002617179 RCV002913845 RCV003153235 RCV001069729 RCV003455847 RCV003783685 RCV003783686 RCV003800708 RCV000017609 RCV000017610 RCV000017611 RCV000017612 RCV000022556 RCV000022557 RCV000995772 RCV000823358 RCV000989598 RCV001050825 RCV001095436 RCV001095437 RCV001095438 RCV001095435 RCV001201343	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
FUS-related disorder	Pathogenic; Likely pathogenic	rs1596912983, rs886041390, rs121909668, rs1555509569	RCV004746544 RCV003401225 RCV003421921 RCV004745160 RCV004722855	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Juvenile amyotrophic lateral sclerosis	Pathogenic	rs886041390, rs1228194239	RCV001095439 RCV001095440	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Tremor, hereditary essential, 4	Pathogenic; Likely pathogenic	rs2144142389, rs2144138894, rs2144140268, rs1596912983, rs2544279075, rs2544251972, rs1555509699, rs886041390, rs1555509605, rs1555509609, rs2544279594, rs121909668, rs121909669, rs121909671, rs387906627, rs1555509569, rs387907274, rs2079351113	RCV001386161 RCV002008546 RCV001954906 RCV001956250 RCV003112340 RCV002617179 RCV002913845 RCV001069729 RCV003783685 RCV003783686 RCV003800708 RCV000703284 RCV005222688 RCV001851894 RCV001851895 RCV003764624 RCV001386160 RCV000030720 RCV000823358 RCV001050825 RCV001386162	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Acute myeloid leukemia	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Adrenocortical carcinoma, hereditary	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Amyotrophic lateral sclerosis	Conflicting classifications of pathogenicity	ClinVar CTD, Disgenet, Orphanet CTD, Disgenet, Orphanet CTD, Disgenet, Orphanet CTD, Disgenet, Orphanet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
AMYOTROPHIC LATERAL SCLEROSIS 6 WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA	—	HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Amyotrophic Lateral Sclerosis, Dominant	Benign; Likely benign; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AMYOTROPHIC LATERAL SCLEROSIS, TYPE 6	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Benign; Likely 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
DEGENERATIVE DISORDER	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Distal spinal muscular atrophy	Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Dystonic disorder	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Frontotemporal dementia	Conflicting classifications of pathogenicity	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
FRONTOTEMPORAL DEMENTIA WITH MOTOR NEURON DISEASE	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LIPOSARCOMA, MYXOID	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign; Likely benign; 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	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myoclonus	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEURODEGENERATIVE DISORDERS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uveal melanoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Acute leukemia	Leukemia	BEFREE	20620604, 29427188		★☆☆☆☆ Found in Text Mining only
Acute lymphocytic leukemia	Lymphocytic Leukemia	BEFREE	16263589, 20620604		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma	Adenocarcinoma	BEFREE	26112163, 27278120		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	BEFREE	30141018		★☆☆☆☆ Found in Text Mining only
Adult Acute Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	20620604		★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	30367664, 31405128, 32941707	Associate	★☆☆☆☆ Found in Text Mining only
Amnesia	Amnesia	BEFREE	22833456, 28351997		★☆☆☆☆ Found in Text Mining only
Amyloidosis	Amyloidosis	BEFREE	24280224		★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis	Amyotrophic Lateral Sclerosis	BEFREE	19251627, 19303844, 19593125, 19669651, 19674978, 19741216, 19922450, 19965854, 19967541, 20018407, 20124201, 20138404, 20232451, 20349096, 20385912, 20400460, 20406184, 20406185, 20415586, 20472325, 20517935, 20541619, 20561714, 20577002, 20598774, 20655970, 20660363, 20668259, 20668261, 20674093, 20687491, 20699327, 20864052, 21074900, 21080240, 21109527, 21135580, 21158017, 21160488, 21222600, 21261515, 21280085, 21327870, 21408206, 21452073, 21487023, 21541367, 21604077, 21725240, 21748598, 21777389, 21810174, 21813273, 21834058, 21856723, 21857683, 21881207, 21907581, 21943958, 21956718, 21965298, 22028183, 22055719, 22065782, 22072660, 22105541, 22118902, 22248478, 22261247, 22292843, 22340366, 22342159, 22363618, 22420316, 22443542, 22444279, 22454397, 22493728, 22563080, 22692064, 22705710, 22710833, 22724023, 22778397, 22833456, 22842875, 22848727, 22863194, 22878663, 22961620, 22968170, 22980027, 22993125, 22999566, 23022481, 23023293, 23041957, 23046583, 23046859, 23056579, 23114103, 23172908, 23172909, 23217123, 23255347, 23257289, 23279185, 23389473, 23448665, 23474818, 23545117, 23559573, 23577159, 23587065, 23620769, 23644307, 23681068, 23771027, 23847048, 23867462, 23881933, 23974990, 24011641, 24036913, 24049082, 24090136, 24204307, 24262168, 24280224, 24325798, 24439481, 24608899, 24716897, 24809826, 24840975, 24841222, 24899262, 24899704, 25004804, 25009283, 25111021, 25173930, 25192599, 25216585, 25239623, 25324524, 25432537, 25444610, 25447237, 25453086, 25457557, 25613506, 25625564, 25656065, 25681989, 25735748, 25792726, 25912081, 26035390, 26123490, 26174443, 26192745, 26251528, 26253605, 26298469, 26362943, 26391765, 26403203, 26452761, 26492376, 26514432, 26728149, 26780562, 26795035, 26842965, 26895297, 26926802, 26972116, 27015757, 27033831, 27040688, 27056981, 27087014, 27150074, 27151080, 27252488, 27338628, 27343041, 27378374, 27381509, 27418313, 27600654, 27604643, 27693252, 27793099, 27794540, 27849576, 27898262, 27906075, 28054830, 28072389, 28094300, 28096243, 28100023, 28163215, 28265061, 28273913, 28288521, 28298410, 28342748, 28358055, 28358904, 28380257, 28389532, 28401346, 28421535, 28424484, 28429234, 28453527, 28515487, 28620838, 28710685, 28842245, 28860970, 28928015, 28954225, 28980860, 28988989, 29021520, 29035885, 29053787, 29140459, 29194538, 29243911, 29308690, 29313812, 29358088, 29362359, 29380416, 29425337, 29430619, 29449089, 29458840, 29491392, 29499134, 29547565, 29621978, 29625118, 29677514, 29723523, 29755516, 29774215, 29897835, 29929116, 29982879, 30002616, 30021151, 30022074, 30035772, 30050143, 30072868, 30150420, 30165075, 30190267, 30193933, 30206235, 30209068, 30249657, 30273830, 30338063, 30349096, 30354839, 30379317, 30425620, 30442662, 30455313, 30486313, 30578769, 30642400, 30659642, 30747709, 30806671, 30872738, 30937520, 30948513, 31017923, 31022909, 31060816, 31171724, 31188823, 31230528, 31242416, 31244613, 31262712, 31368485, 31383794, 31509188, 31515480, 31591561, 31595953, 31630970, 31682085, 31693373, 31695598, 31767634, 31811140, 31820696, 31822699		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Amyotrophic Lateral Sclerosis	Amyotrophic Lateral Sclerosis	LHGDN	19251627, 19251628		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Amyotrophic Lateral Sclerosis	Amyotrophic lateral sclerosis	Pubtator	19669651, 19741216, 20138404, 20232451, 20517935, 20544928, 20577002, 20579074, 20598774, 20668259, 20668261, 20720006, 21074900, 21327870, 21452073, 21541367, 21604077, 21857683, 21943958, 22055719, 22563080, 22692064, 22739338, 22778397, 22863194, 22968170, 22993125, 23022481, 23048034, 23056579, 23078282, 23100398, 23152885, 23228179, 23232809, 23249733, 23545117, 23577159, 23755159, 23881933, 23925123, 24013423, 24204307, 24268778, 24439481, 24809826, 24899704, 25004804, 25009283, 25375143, 25444610, 25453086, 25681989, 26035390, 26056265, 26123490, 26124092, 26192745, 26251528, 26452761, 26573619, 26795035, 26984092, 26997647, 27252488, 27604643, 27838743, 27849576, 28282387, 28396410, 28401346, 28424484, 28430856, 28969660, 28988989, 29021520, 29140459, 29243911, 29362359, 29434138, 29677514, 29897835, 29929116, 30014505, 30206235, 30642400, 30659642, 30720798, 30872628, 30937520, 30940688, 31017923, 31171724, 31188823, 31242416, 31301488, 31405128, 31515480, 31630970, 31682085, 31693373, 31767634, 31768050, 31801573, 31932031, 32116048, 32189459, 32217641, 32307925, 32521226, 32616036, 32678235, 32691043, 32877292, 32917270, 33082139, 33159016, 33159856, 33172210, 33414559, 33518565, 33610019, 33661429, 33670886, 33693641, 33705755, 33709219, 33770234, 33857636, 33871026, 33891869, 34088960, 34233002, 34254495, 34303285, 34375640, 34518945, 34587215, 34624313, 34681673, 35247836, 35576218, 35594156, 35709984, 36070099, 36163369, 36261283, 36309735, 36549973, 36653804, 36674783, 36696267, 36747013, 36806717, 36833445, 36965406, 37115004, 37116345, 37208601, 37220877, 37408187, 37582053, 37608584, 37691292, 37722062, 37759469, 37804508, 37887305, 38123999, 38141357, 38170217, 38492239, 39662462	Associate	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Amyotrophic Lateral Sclerosis	Amyotrophic Lateral Sclerosis	ORPHANET_DG	24085347		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Amyotrophic lateral sclerosis	Amyotrophic Lateral Sclerosis	Orphanet			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Amyotrophic Lateral Sclerosis	Amyotrophic Lateral Sclerosis	CTD_human_DG	30455313		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Amyotrophic Lateral Sclerosis	Amyotrophic lateral sclerosis	Pubtator	34544842	Stimulate	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Amyotrophic Lateral Sclerosis	Amyotrophic Lateral Sclerosis	HPO_DG			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Amyotrophic lateral sclerosis 1	Amyotrophic lateral sclerosis	Pubtator	19450904, 19674978, 19741215, 19741216, 20138404, 20517935, 20544928, 20577002, 20598774, 20668259, 20886222, 21603978, 21604077, 22055719, 23056579, 23152885, 23545117, 26123490, 26984092, 26997647, 28969660, 31682085, 31875556, 32189459, 33518565, 33580145	Associate	★☆☆☆☆ Found in Text Mining only
AMYOTROPHIC LATERAL SCLEROSIS 1	Lateral Sclerosis	BEFREE	19741215, 19861302, 20142531, 20224596, 20517935, 20544928, 20660363, 21438137, 21829392, 22499346, 23217123, 23559573, 23834335, 24280224, 24509083, 25912081, 26176978, 26823199, 26997647		★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis 2 Juvenile	Amyotrophic lateral sclerosis	Pubtator	34254495	Associate	★☆☆☆☆ Found in Text Mining only
AMYOTROPHIC LATERAL SCLEROSIS 2, JUVENILE (disorder)	Amyotrophic lateral sclerosis	BEFREE	20668261, 26362943, 28054830		★☆☆☆☆ Found in Text Mining only
AMYOTROPHIC LATERAL SCLEROSIS 6 (disorder)	Amyotrophic lateral sclerosis	UNIPROT_DG	19251627, 19251628, 19861302, 20124201, 27604643		★☆☆☆☆ Found in Text Mining only
AMYOTROPHIC LATERAL SCLEROSIS 6 (disorder)	Amyotrophic lateral sclerosis	CLINVAR_DG	19251627, 20577002, 20606625, 20668259, 22055719, 23577159, 24204307, 24908169, 25324524		★☆☆☆☆ Found in Text Mining only
AMYOTROPHIC LATERAL SCLEROSIS 6 (disorder)	Amyotrophic lateral sclerosis	BEFREE	19833157, 21965298, 24738488		★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis 6, Autosomal Recessive	Amyotrophic lateral sclerosis	CTD_human_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Amyotrophic Lateral Sclerosis 6, Autosomal Recessive	Amyotrophic lateral sclerosis	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Amyotrophic lateral sclerosis type 6	Amyotrophic lateral sclerosis	Pubtator	22055719, 34587215, 37582053	Associate	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Amyotrophic Lateral Sclerosis With Dementia	Amyotrophic Lateral Sclerosis With Dementia	CTD_human_DG	30455313		★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis, Familial	Amyotrophic lateral sclerosis	BEFREE	19251627, 19251628, 19450904, 19669651, 19674978, 19741215, 19833157, 19861302, 19922450, 19967541, 20138404, 20142531, 20224596, 20517935, 20544928, 20561714, 20577002, 20598774, 20606625, 20660363, 20668259, 20674093, 21280085, 21344536, 21438137, 21604077, 21752791, 21949354, 21956718, 22340366, 22366794, 22878663, 22980027, 23448665, 23557964, 23660545, 23847048, 24439481, 24509083, 24841222, 25216585, 25912081, 26123490, 26403203, 26823199, 27033831, 28094300, 28096243, 30273830, 31599037, 31682085		★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis, Guam Form	Amyotrophic lateral sclerosis	CTD_human_DG	30455313		★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis, Sporadic	Lateral Sclerosis	BEFREE	19861302, 20138404, 20232451, 20385912, 20544928, 22055719, 22999566, 23046583, 23046859, 23172909, 23448665, 24439481, 25457557, 26174443, 26176978, 28288521		★☆☆☆☆ Found in Text Mining only
ANOPHTHALMIA AND PULMONARY HYPOPLASIA	Syndromic microphthalmia	BEFREE	31837005		★☆☆☆☆ Found in Text Mining only
Anxiety	Anxiety Disorder	HPO_DG			★☆☆☆☆ Found in Text Mining only
Apraxias	Apraxia	BEFREE	22999566		★☆☆☆☆ Found in Text Mining only
Apraxias	Apraxia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	Pubtator	37688506	Associate	★☆☆☆☆ Found in Text Mining only
Atrophy	Atrophy	Pubtator	19946779	Associate	★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune Diseases	BEFREE	30575981		★☆☆☆☆ Found in Text Mining only
Behavioral variant of frontotemporal dementia	Behavioral Variant Of Frontotemporal Dementia	BEFREE	21943958, 22060063		★☆☆☆☆ Found in Text Mining only
Benign Neoplasm	Benign Neoplasm	BEFREE	12930346		★☆☆☆☆ Found in Text Mining only
Blepharoptosis	Ptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Bone Diseases	Bone disease	Pubtator	32187044	Associate	★☆☆☆☆ Found in Text Mining only
Bone neoplasms	Bone neoplasms	BEFREE	29431183		★☆☆☆☆ Found in Text Mining only
Bone Neoplasms	Bone neoplasm	Pubtator	34310785	Associate	★☆☆☆☆ Found in Text Mining only
Brain Neoplasms	Brain Neoplasms	BEFREE	29700310, 31082191		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	11593436		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	36493359	Associate	★☆☆☆☆ Found in Text Mining only
Bulbar palsy	Bulbar palsy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	22081015, 37887305, 7585257	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	30201954		★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	30308519	Inhibit	★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	15126327, 15486560, 17234782, 17486070, 17828283, 18172250, 21151896, 21273575, 21645495, 24012694, 24410728, 24510538, 24659339, 26081814, 30008867		★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	18172250	Inhibit	★☆☆☆☆ Found in Text Mining only
Cerebrovascular accident	Stroke	BEFREE	28458041		★☆☆☆☆ Found in Text Mining only
cervical cancer	Cervical Cancer	BEFREE	31539117, 31696463		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervix carcinoma	Cervix carcinoma	BEFREE	31539117, 31696463		★☆☆☆☆ Found in Text Mining only
Charcot-Marie-Tooth Disease	Charcot-Marie-Tooth Disease	BEFREE	27040688		★☆☆☆☆ Found in Text Mining only
Childhood Acute Lymphoblastic Leukemia	Lymphoblastic Leukemia	BEFREE	20620604		★☆☆☆☆ Found in Text Mining only
Childhood Acute Myeloid Leukemia	Acute Myeloid Leukemia	BEFREE	24068373		★☆☆☆☆ Found in Text Mining only
Chorea	Chorea	Pubtator	32116048	Associate	★☆☆☆☆ Found in Text Mining only
Clear Cell Sarcoma of Soft Tissue	Sarcoma	BEFREE	11063792		★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognition disorder	Pubtator	26984092	Associate	★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognitive disorder	BEFREE	29755516, 30344044, 31509188		★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic neoplasm	Pubtator	37597669	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	22652275, 31557619		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal Neoplasms	LHGDN	16230076		★☆☆☆☆ Found in Text Mining only
Common Variable Immunodeficiency	Common Variable Immunodeficiency	BEFREE	25678086		★☆☆☆☆ Found in Text Mining only
Common Variable Immunodeficiency	Common variable immunodeficiency	Pubtator	25678086	Associate	★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	BEFREE	30803009		★☆☆☆☆ Found in Text Mining only
Corticobasal Degeneration	Corticobasal degeneration	Pubtator	21943958	Associate	★☆☆☆☆ Found in Text Mining only
Deglutition Disorders	Dysphagia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dementia	Dementia	GENOMICS_ENGLAND_DG	19251628		★☆☆☆☆ Found in Text Mining only
Dementia	Dementia	Pubtator	20517935, 20668259, 28660843, 30530974, 35120450	Associate	★☆☆☆☆ Found in Text Mining only
Dementia	Dementia	BEFREE	20668259, 21813273, 22833456, 22848727, 23172908, 25433797, 27015757, 28176659		★☆☆☆☆ Found in Text Mining only
Demyelinating Diseases	Demyelinating diseases	Pubtator	32217641	Associate	★☆☆☆☆ Found in Text Mining only
Dentatorubral-Pallidoluysian Atrophy	Dentatorubral Pallidoluysian Atrophy	BEFREE	19833157		★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	HPO_DG			★☆☆☆☆ Found in Text Mining only
Depressive Disorder Major	Major depressive disorder	Pubtator	37098514	Associate	★☆☆☆☆ Found in Text Mining only
Desmoplastic Small Round Cell Tumor	Desmoplastic small round cell tumor	Pubtator	22072439, 25010205	Associate	★☆☆☆☆ Found in Text Mining only
Desmoplastic Small Round Cell Tumor	Desmoplastic Tumor	BEFREE	9344317		★☆☆☆☆ Found in Text Mining only
Distal myopathy Nonaka type	Distal myopathy	Pubtator	34291734	Associate	★☆☆☆☆ Found in Text Mining only
Dysarthria	Dysarthria	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dyscalculia	Dyscalculia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dystonic Disorders	Dystonia	Pubtator	20544928	Associate	★☆☆☆☆ Found in Text Mining only
Esophageal carcinoma	Esophageal Carcinoma	BEFREE	22509890, 23617094		★☆☆☆☆ Found in Text Mining only
Essential Tremor	Tremor	BEFREE	22863194, 23114103, 23582660, 23601511, 23660545, 23731953, 23825177, 23834483, 24080306, 24262168, 24532269, 25375143, 25631824, 26411503, 27395408, 29579287, 31690945		★☆☆☆☆ Found in Text Mining only
Essential Tremor	Essential tremor	Pubtator	22863194, 23601511, 23834483, 25375143, 32196977, 32307925	Associate	★☆☆☆☆ Found in Text Mining only
Ewings sarcoma	Ewing sarcoma	BEFREE	10523652, 12907633, 16303180, 17620387, 21856723, 22842875, 23079205, 24899704, 25723116, 26227957, 26690869, 27286459, 28681998, 29313488, 30257034, 30895378, 31756779, 8187069		★☆☆☆☆ Found in Text Mining only
Ewings sarcoma-primitive neuroectodermal tumor (PNET)	Ewing sarcoma	BEFREE	19737655		★☆☆☆☆ Found in Text Mining only
Extraskeletal Myxoid Chondrosarcoma	Extraskeletal Myxoid Chondrosarcoma	BEFREE	15188455, 18162764, 25130955, 28383167		★☆☆☆☆ Found in Text Mining only
Fanconi Anemia	Fanconi Anemia	BEFREE	31639439		★☆☆☆☆ Found in Text Mining only
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)	Anemia	BEFREE	31639439		★☆☆☆☆ Found in Text Mining only
Fibromyxosarcoma	Fibromyxosarcoma	BEFREE	11229517, 18162764, 21399449		★☆☆☆☆ Found in Text Mining only
Fibromyxosarcoma	Fibromyxosarcoma	ORPHANET_DG			★☆☆☆☆ Found in Text Mining only
Fibrosarcoma	Fibrosarcoma	BEFREE	15688424, 16931951		★☆☆☆☆ Found in Text Mining only
Fibrosarcoma	Fibrosarcoma	LHGDN	17721195		★☆☆☆☆ Found in Text Mining only
Frontotemporal dementia	Frontotemporal dementia	BEFREE	19674978, 19965854, 20413882, 20864052, 21222600, 21424531, 21618003, 21725240, 21847013, 21881207, 21943958, 21956718, 22105541, 22355793, 22499346, 23023293, 23660545, 24709683, 25192599, 25447237, 25604855, 26047658, 26220395, 26514432, 27015757, 27087014, 27151080, 27502124, 27600654, 27632209, 28096243, 28380257, 28790177, 28928015, 28984110, 28988390, 29053860, 29194538, 29425337, 29547565, 29578490, 29677514, 29755516, 29897835, 29956270, 30273830, 30338063, 30344044, 30379317, 30486313, 30774737, 30939964, 30948513, 31171724, 31230528, 31509188, 31630970		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Frontotemporal Dementia	Frontotemporal dementia	Pubtator	19674978, 20668259, 21943958, 22060063, 22692064, 24709683, 26056265, 27632209, 28282387, 28790177, 29677514, 29897835, 31171724, 31630970, 32381627, 32691043, 32727073, 32877292, 33082139, 33159856, 33705755, 34518945, 34561610, 35152451, 35581240, 35717886, 36163369, 37461319, 38320749	Associate	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Frontotemporal dementia	Frontotemporal dementia	HPO_DG			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Frontotemporal Dementia With Motor Neuron Disease	Frontotemporal Dementia With Motor Neuron Disease	ORPHANET_DG	23597030		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Frontotemporal dementia with motor neuron disease	Frontotemporal Dementia With Motor Neuron Disease	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Frontotemporal Lobar Degeneration	Frontotemporal dementia	BEFREE	20061612, 20124201, 20400460, 20490813, 20606625, 21031579, 21135580, 21158017, 21222602, 21280085, 21360076, 21408206, 21424531, 21541367, 21554923, 21603977, 21604077, 21752791, 21777389, 21856723, 21943958, 22118902, 22181065, 22342159, 22355793, 22363618, 22420316, 22444279, 22563080, 22710833, 22833456, 22842875, 22892522, 22961620, 22968170, 23041957, 23046583, 23257289, 23389473, 23557964, 23587065, 23635657, 23974990, 24011641, 24011980, 24035575, 24036913, 24608899, 24709683, 24840975, 24899704, 25192599, 25216585, 25289647, 25324524, 26220395, 26227957, 26403203, 26895297, 27435172, 27793099, 27903134, 28100023, 28147269, 28358904, 28429234, 28453527, 28660843, 28842245, 28954225, 28980860, 28984110, 29053860, 29578490, 29677515, 29723523, 29758948, 29774215, 29956645, 30002616, 30021151, 30050143, 30050404, 30249657, 30355151, 30755280, 30774737, 31022909, 31437340		★☆☆☆☆ Found in Text Mining only
FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, GRN-RELATED	Frontotemporal lobar degeneration with Tdp43 inclusions	BEFREE	21847013, 21956718		★☆☆☆☆ Found in Text Mining only
Gastrointestinal Stromal Tumors	Gastrointestinal stromal tumor	Pubtator	25987131	Associate	★☆☆☆☆ Found in Text Mining only
Generalized amyotrophy	Amyotrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	26081814, 29700310, 31632968		★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	26081814, 29700310, 31632968		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	26081814, 30736838		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	37158824	Associate	★☆☆☆☆ Found in Text Mining only
Glomerulonephritis Membranous	Membranous glomerulonephritis	Pubtator	21327870	Stimulate	★☆☆☆☆ Found in Text Mining only
Hallucinations	Hallucinations	HPO_DG			★☆☆☆☆ Found in Text Mining only
Heart Diseases	Heart disease	Pubtator	38105257	Associate	★☆☆☆☆ Found in Text Mining only
Hereditary Leiomyomatosis and Renal Cell Cancer	Hereditary Leiomyomatosis and Renal Cancer	BEFREE	31738653		★☆☆☆☆ Found in Text Mining only
Histiocytoma Angiomatoid Fibrous	Angiomatoid fibrous histiocytoma	Pubtator	19801966, 37097347	Associate	★☆☆☆☆ Found in Text Mining only
Histiocytoma, Angiomatoid Fibrous	Histiocytoma	BEFREE	11063792, 12915480, 15884099, 17724745, 18094413, 19801966, 24614712, 25804255, 25927151		★☆☆☆☆ Found in Text Mining only
Histiocytosis haematophagic	Histiocytosis Haematophagic	BEFREE	20694842		★☆☆☆☆ Found in Text Mining only
Huntington Disease	Huntington Disease	BEFREE	19833157, 21813273, 31599037		★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	36806670	Stimulate	★☆☆☆☆ Found in Text Mining only
Immune System Diseases	Immune system disease	Pubtator	27387891	Associate	★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	BEFREE	29755516, 31509188		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	BEFREE	22057404		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Intellectual developmental disorder	Pubtator	26984092	Associate	★☆☆☆☆ Found in Text Mining only
Irritable Bowel Syndrome	Irritable Bowel Syndrome	BEFREE	30071397		★☆☆☆☆ Found in Text Mining only
Juvenile amyotrophic lateral sclerosis	Amyotrophic Lateral Sclerosis	ORPHANET_DG	20579074, 20668261, 21907581, 22248478, 23046859		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Juvenile amyotrophic lateral sclerosis	Amyotrophic Lateral Sclerosis	BEFREE	21907581, 22248478, 25192599, 28429524, 30507891		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Juvenile amyotrophic lateral sclerosis	Amyotrophic Lateral Sclerosis	Orphanet			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Kaposi Sarcoma	Kaposi Sarcoma	BEFREE	29986386		★☆☆☆☆ Found in Text Mining only
Laryngospasm	Laryngospasm	HPO_DG			★☆☆☆☆ Found in Text Mining only
Lateral Sclerosis	Lateral Sclerosis	BEFREE	26227957		★☆☆☆☆ Found in Text Mining only
Learning Disabilities	Learning disorders	Pubtator	26984092	Associate	★☆☆☆☆ Found in Text Mining only
leiomyosarcoma	Leiomyosarcoma	BEFREE	21732477		★☆☆☆☆ Found in Text Mining only
Leukemia	Leukemia	Pubtator	18620564, 20061812, 24068373	Associate	★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	BEFREE	8187069		★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid	Myeloid leukemia	Pubtator	10779324	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	10354136, 20061812, 24068373, 26148230, 30150206, 35623083, 9242552	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia Promyelocytic Acute	Promyelocytic leukemia	Pubtator	17854312, 34404765	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia, Mast-Cell	Leukemia	BEFREE	31738653		★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	10523652, 12907633, 12915480, 17854312, 19781443, 20694842, 21536242, 24068373, 26148230, 29393096, 30150206, 7533529, 7566973, 9315104		★☆☆☆☆ Found in Text Mining only
Leukopenia	Leukopenia	BEFREE	29895707		★☆☆☆☆ Found in Text Mining only
Lewy Body Disease	Lewy Body Disease	BEFREE	25604855		★☆☆☆☆ Found in Text Mining only
Lewy Body Disease	Lewy body disease	Pubtator	31405128, 33900085	Associate	★☆☆☆☆ Found in Text Mining only
Lipoblastoma	Lipoblastoma	BEFREE	30850231		★☆☆☆☆ Found in Text Mining only
Lipoma	Lipoma	Pubtator	25650275	Associate	★☆☆☆☆ Found in Text Mining only
liposarcoma	Liposarcoma	BEFREE	10347549, 10828883, 11126370, 11896599, 12366807, 15492825, 15720420, 15826835, 16414544, 16651630, 16884691, 17468515, 17586092, 18596980, 20042637, 20406184, 20541619, 21344536, 21732477, 21857683, 22293175, 22543255, 23836491, 24090136, 24285420, 25289647, 25444610, 26251528, 26865464, 30903020, 31092554, 8523819, 9676855, 9989822		★☆☆☆☆ Found in Text Mining only
Liposarcoma	Liposarcoma	Pubtator	11278855, 18509338, 19841068, 20624952, 20720006, 21169411, 21857683, 22055719, 22460799, 22588557, 23155438, 25444610, 26604682, 30308519, 31092554, 32060318, 35247836, 35733138	Associate	★☆☆☆☆ Found in Text Mining only
liposarcoma	Liposarcoma	LHGDN	17468515, 19037998		★☆☆☆☆ Found in Text Mining only
Liposarcoma Myxoid	Liposarcoma	Pubtator	11229517, 12169678, 12876210, 18820664, 20017906, 20581806, 20863376, 22523595, 25393000, 26036639, 29588491, 32341520, 32362012, 32815829, 33731886, 34357401, 34385184, 34971481, 36379683, 7485386, 7585257, 8921363	Associate	★☆☆☆☆ Found in Text Mining only
Liposarcoma, Dedifferentiated	liposarcoma	BEFREE	30793229		★☆☆☆☆ Found in Text Mining only
Liposarcoma, Myxoid	liposarcoma	BEFREE	10449603, 10584701, 10809905, 10982695, 11063792, 11064357, 11126370, 11162437, 11229517, 11751490, 11802205, 12168660, 12169678, 12366807, 12907366, 12915480, 12930346, 15201968, 15492825, 15720420, 16359533, 16538055, 16849546, 18000364, 18091394, 18162764, 18850010, 19190116, 20017906, 20515481, 20581806, 21128778, 21403840, 21805478, 22588557, 22995304, 25851712, 26865464, 26897615, 27270875, 27515548, 28192118, 28637688, 29181103, 29190494, 30793229, 30850231, 7485386, 7533529, 7566973, 7970732, 8125258, 8637704, 8921363, 9306965, 9315104, 9676855, 9785008, 9989822		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Liposarcoma, Myxoid	liposarcoma	LHGDN	12915480		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Liposarcoma, Myxoid	liposarcoma	CTD_human_DG	7503811, 8510758		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Liposarcoma, Myxoid	liposarcoma	ORPHANET_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Liposarcoma, Pleomorphic	liposarcoma	BEFREE	15720420		★☆☆☆☆ Found in Text Mining only
Liposarcoma, well differentiated	liposarcoma	BEFREE	11229517, 25851712		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	28196303, 30308519		★☆☆☆☆ Found in Text Mining only
Liver Neoplasms	Liver neoplasm	Pubtator	19449021, 20544928, 20624952, 22081015, 26293199, 26452761, 27288402, 27906075, 28790177, 30398641, 30642400, 31017923, 31875556, 32404191, 33269497, 34233002, 34681673, 35082301, 35120624, 35581240, 35594156, 37043475, 37179431, 37461319, 38320749	Associate	★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung Neoplasms	BEFREE	15486560, 18172250, 24659339		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	18172250	Inhibit	★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	19671678, 32808651	Associate	★☆☆☆☆ Found in Text Mining only
Machado-Joseph Disease	Machado-Joseph Disease	BEFREE	23172908, 30190267		★☆☆☆☆ Found in Text Mining only
Major Depressive Disorder	Mental Depression	BEFREE	28458041		★☆☆☆☆ Found in Text Mining only
Malignant Fibrous Histiocytoma	Malignant Histiocytoma	BEFREE	12366807, 15201968		★☆☆☆☆ Found in Text Mining only
Malignant mesothelioma	Malignant Mesothelioma	BEFREE	28505004		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	11593436, 28715648		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	UNIPROT_DG			★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	11593436, 15126327, 15486560, 17234782, 17486070, 17828283, 18172250, 19671678, 21151896, 21273575, 21645495, 24012694, 24410728, 24510538, 24659339, 26081814, 30008867		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	31837005		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	21169411, 29940232, 30522912		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	29417587, 31673844		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	15126327, 15826835, 18000364, 18172250, 18850010, 25289647, 25451114, 26611653, 30008867, 30318672, 30567109, 31682085, 31736422, 8058726		★☆☆☆☆ Found in Text Mining only
Malignant tumor of cervix	Cervical Tumor	BEFREE	31539117, 31696463		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	15604097		★☆☆☆☆ Found in Text Mining only
Mantle cell lymphoma	Mantle Cell Lymphoma	BEFREE	31738653		★☆☆☆☆ Found in Text Mining only
Mental Retardation	Mental retardation	BEFREE	22057404		★☆☆☆☆ Found in Text Mining only
Mesothelioma	Mesothelioma	Pubtator	35665561, 37400148	Associate	★☆☆☆☆ Found in Text Mining only
Mesothelioma Malignant	Mesothelioma	Pubtator	18973227, 28505004	Associate	★☆☆☆☆ Found in Text Mining only
Microphthalmia syndromic 7	Microphthalmia	Pubtator	12169678, 20017906, 25393000, 25650275	Associate	★☆☆☆☆ Found in Text Mining only
MICROPHTHALMIA, SYNDROMIC 7	Syndromic microphthalmia	BEFREE	10449603, 11751490, 15201968, 17252290, 18752119, 22588557, 22995304, 25650275, 26865464, 28192118, 30468937, 30787173, 30898787, 7566973, 8637704, 9315104		★☆☆☆☆ Found in Text Mining only
Mitochondrial Diseases	Mitochondrial disease	Pubtator	32381627, 36163369	Associate	★☆☆☆☆ Found in Text Mining only
Mood swings	Mood swings	HPO_DG			★☆☆☆☆ Found in Text Mining only
Motor neuron atrophy	Motor neuron atrophy	BEFREE	19251628, 20699327, 22443542, 22848727, 22961620, 23474818, 23559573, 26123490, 26842965, 27615052, 29053787, 29194538, 30937520, 31383794		★☆☆☆☆ Found in Text Mining only
Motor Neuron Disease	Motor Neuron Disease	BEFREE	19884572, 21031579, 22833456, 23022481, 25451114, 25735748, 27693252, 28243725, 28343865, 31017923		★☆☆☆☆ Found in Text Mining only
Motor Neuron Disease	Motor neuron disease	Pubtator	19884572, 22081015, 23022481, 24439481, 26452761, 31017923, 31801573, 33580145, 33857636, 34233002, 36834591	Associate	★☆☆☆☆ Found in Text Mining only
Mouth Diseases	Mouth disease	Pubtator	35353344	Associate	★☆☆☆☆ Found in Text Mining only
Movement Disorders	Movement Disorders	CLINVAR_DG	19251627, 20385912, 20577002, 22863194, 23474818, 24280224, 26362943		★☆☆☆☆ Found in Text Mining only
Movement Disorders	Movement disorder	Pubtator	32307925	Associate	★☆☆☆☆ Found in Text Mining only
Muscular Atrophy Spinal	Spinal muscular atrophy	Pubtator	23022481, 23155438, 30398641, 30565205	Associate	★☆☆☆☆ Found in Text Mining only
Myasthenia Gravis	Myasthenia gravis	Pubtator	27387891	Associate	★☆☆☆☆ Found in Text Mining only
Myeloid Leukemia	Myeloid Leukemia	BEFREE	10779324, 8187069		★☆☆☆☆ Found in Text Mining only
Myeloproliferative disease	Myeloproliferative disorder	BEFREE	15975576		★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial Infarction	BEFREE	30287867, 31502863, 31541092		★☆☆☆☆ Found in Text Mining only
Myopathies Nemaline	Nemaline myopathy	Pubtator	20886222	Associate	★☆☆☆☆ Found in Text Mining only
Myxofibrosarcoma	Myxofibrosarcoma	Orphanet			★☆☆☆☆ Found in Text Mining only
Myxoid/Round Cell Liposarcoma	Myxoid Liposarcoma	BEFREE	10982695, 11063792, 11162437, 11229517, 11802205, 12168660, 12366807, 12915480, 12930346, 15201968, 15688424, 15720420, 16359533, 16651630, 16849546, 17647282, 18091394, 18162764, 18551309, 18850010, 19190116, 20581806, 21403840, 22293175, 22588557, 23276404, 24213580, 25393000, 25851712, 26865464, 26897615, 27270875, 27515548, 28192118, 28637688, 29181103, 29190494, 30793229, 30850231, 7533529, 7566973, 8125258		★☆☆☆☆ Found in Text Mining only
Myxoid/round cell liposarcoma	Myxoid Liposarcoma	Orphanet			★☆☆☆☆ Found in Text Mining only
Myxoma	Myxoma	BEFREE	21399449		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	10584701, 10605700, 11593436, 12366807, 12692867, 15126327, 15486560, 16849546, 16959485, 17234782, 17486070, 17828283, 18162764, 18172250, 18850010, 19671678, 20628852, 20815032, 21151896, 21169411, 21273575, 21344536, 21399449, 21536545, 21645495, 21677541, 23588365, 23617094, 23920321, 24213580, 24410728, 24659339, 24896634, 25706482, 26081814, 27278120, 28715648, 28903344, 29393096, 29431183, 30308519, 30318672, 30720533, 30797818, 31320671, 31837005, 8637704, 9704926, 9989822		★☆☆☆☆ Found in Text Mining only
nervous system disorder	Nervous System Disorder	BEFREE	25451114, 27415968, 27494393, 30992467		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	22493728, 26936280, 27252488		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	Pubtator	36833445	Associate	★☆☆☆☆ Found in Text Mining only
Neurodegenerative Diseases	Neurodegenerative disorder	Pubtator	21327870, 22055719, 22968170, 23048034, 23249733, 23635657, 24013423, 25375143, 25501833, 26124092, 26317470, 29140459, 29362359, 29677514, 29929116, 30367664, 30565205, 30581145, 30937520, 31017923, 31240261, 32060318, 33433033, 33900085, 34291734, 34586830, 34654750, 35581240, 36696267, 36833445, 37115004, 37116345, 37179431, 37887305, 38492239, 39251571	Associate	★☆☆☆☆ Found in Text Mining only
Neurodegenerative Diseases	Neurodegenerative disorder	Pubtator	37461319	Inhibit	★☆☆☆☆ Found in Text Mining only
Neurodegenerative Disorders	Neurodegenerative Disorders	BEFREE	19741216, 20400460, 20598774, 20655970, 20721566, 21327870, 21748598, 21777389, 21813273, 22079416, 22363618, 22848727, 23389473, 23474818, 23587065, 23635657, 23867462, 24036913, 24738488, 24840975, 24842888, 25009283, 25192599, 25216585, 25289647, 25324524, 25451114, 26047658, 26160665, 26317470, 26441009, 26848654, 27793099, 27898262, 27903134, 28096243, 28273913, 28342748, 28380257, 28389532, 28392367, 28657719, 29140459, 29380416, 29425337, 29499134, 29723523, 29788207, 29929116, 30008867, 30249657, 30565205, 30581145, 30659642, 30660504, 30948513, 31022909, 31230528, 31244613, 31479821, 31805282		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neutropenia	Neutropenia	BEFREE	29895707		★☆☆☆☆ Found in Text Mining only
Night blindness congenital stationary	Night blindness, congenital stationary	Pubtator	38105257	Associate	★☆☆☆☆ Found in Text Mining only
NON RARE IN EUROPE: Hereditary essential tremor	Hereditary Essential Tremor	Orphanet			★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	15486560, 17234782, 17486070, 17828283, 18172250, 19671678, 26081814, 26112163, 26611653, 27845352, 30008867		★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	BEFREE	31236409		★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	31837005		★☆☆☆☆ Found in Text Mining only
Pancytopenia	Pancytopenia	BEFREE	27500492		★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	Pubtator	20668259, 24651478, 31171724, 31405128	Associate	★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	BEFREE	24080306, 24262168, 25451114, 25604855, 28511006, 29243911, 30043675, 31171724, 31820696		★☆☆☆☆ Found in Text Mining only
Parkinsonian Disorders	Parkinson Disease	BEFREE	20668259		★☆☆☆☆ Found in Text Mining only
Parkinsonian Disorders	Parkinson Disease	HPO_DG			★☆☆☆☆ Found in Text Mining only
Peritonitis	Peritonitis	Pubtator	32770123, 35665561	Associate	★☆☆☆☆ Found in Text Mining only
Pick Disease of the Brain	Pica	BEFREE	20413882, 20864052, 21424531, 23023293, 23660545, 24709683, 25192599, 25447237, 25604855, 26047658, 26514432, 27015757, 28096243, 28790177, 28928015, 28984110, 29194538, 29425337, 29547565, 29897835, 30273830, 30939964, 30948513		★☆☆☆☆ Found in Text Mining only
Post-Traumatic Stress Disorder	Stress Disorder	BEFREE	28102573		★☆☆☆☆ Found in Text Mining only
Precursor Cell Lymphoblastic Leukemia Lymphoma	Lymphoblastic Leukemia	LHGDN	16215946		★☆☆☆☆ Found in Text Mining only
Precursor Cell Lymphoblastic Leukemia Lymphoma	Lymphoblastic Leukemia	BEFREE	16263589, 20620604		★☆☆☆☆ Found in Text Mining only
Premature aging syndrome	Premature aging	BEFREE	28351997		★☆☆☆☆ Found in Text Mining only
Presenile dementia	Senile Dementia	BEFREE	20668259, 21813273, 22833456, 22848727, 23172908, 27015757, 28176659		★☆☆☆☆ Found in Text Mining only
Primary Progressive Nonfluent Aphasia	Nonfluent Aphasia	BEFREE	28100023		★☆☆☆☆ Found in Text Mining only
Progressive cerebellar ataxia	Cerebellar Ataxia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Progressive supranuclear palsy	Progressive Supranuclear Palsy	BEFREE	26172286		★☆☆☆☆ Found in Text Mining only
Progressive supranuclear palsy atypical	Progressive supranuclear palsy	Pubtator	20668259	Associate	★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	21169411, 29940232, 30522912		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	21169411, 21909421, 31736422, 36035281, 36517760	Associate	★☆☆☆☆ Found in Text Mining only
Proximal amyotrophy	Amyotrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ptosis	Ptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Respiratory Failure	Respiratory Failure	BEFREE	28054830, 28288521		★☆☆☆☆ Found in Text Mining only
Respiratory Failure	Respiratory Failure	HPO_DG			★☆☆☆☆ Found in Text Mining only
Rhabdomyosarcoma	Rhabdomyosarcoma	BEFREE	29758589		★☆☆☆☆ Found in Text Mining only
Rhabdomyosarcoma	Rhabdomyosarcoma	Pubtator	30720533, 33382123, 35353344, 38168093	Associate	★☆☆☆☆ Found in Text Mining only
Sarcoma	Sarcoma	BEFREE	10448117, 10602519, 10982695, 15201968, 17620387, 18162764, 20017906, 21273575, 22819758, 22993125, 23588368, 24441665, 25216585, 30895378, 8921363, 9785008		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Sarcoma	LHGDN	17721195, 18648544		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Sarcoma	Pubtator	18620564, 20017906, 20720006, 21128778, 22388756, 22460799, 23290535, 25867764, 28701145, 28924037, 29458410, 30040819, 30308519, 30459475, 31092554, 31232935, 32327700, 33859361, 34375640, 34385184, 35182012, 36905356, 36928336, 8890175, 8921363	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma Clear Cell	Sarcoma	Pubtator	35347249	Associate	★☆☆☆☆ Found in Text Mining only
Sarcoma Ewing	Sarcoma	Pubtator	17620387, 21169411, 25501833, 31756779, 31870501, 32362012, 34465585, 34749732, 37567448, 7485386	Associate	★☆☆☆☆ Found in Text Mining only
Sarcoma, Spindle Cell	Sarcoma	BEFREE	29431183		★☆☆☆☆ Found in Text Mining only
Semantic Dementia	Semantic Dementia	BEFREE	28100023		★☆☆☆☆ Found in Text Mining only
Sensorineural hearing loss, bilateral	Sensorineural hearing loss	HPO_DG			★☆☆☆☆ Found in Text Mining only
Sensory neuropathy	Sensory neuropathy	HPO_DG			★☆☆☆☆ Found in Text Mining only
SHORT syndrome	Short syndrome	Pubtator	39596510	Associate	★☆☆☆☆ Found in Text Mining only
Small Cell Lung Carcinoma	Small cell lung carcinoma	Pubtator	18172250	Inhibit	★☆☆☆☆ Found in Text Mining only
Soft Tissue Neoplasms	Soft Tissue Neoplasms	BEFREE	15139001, 22982887, 9344317		★☆☆☆☆ Found in Text Mining only
Spinal Muscular Atrophy	Spinal Muscular Atrophy	BEFREE	22072660, 23022481, 23255347, 23681068, 28515487, 30565205		★☆☆☆☆ Found in Text Mining only
Spinocerebellar Ataxia Type 1	Spinocerebellar Ataxia	BEFREE	19833157		★☆☆☆☆ Found in Text Mining only
Spondylo-ocular syndrome	Spondyloocular Syndrome	BEFREE	30340332		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	BEFREE	26112163		★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	33618612, 36481914	Associate	★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of lung	Lung carcinoma	BEFREE	18172250		★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	29417587, 31673844		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	31591939, 35733138	Associate	★☆☆☆☆ Found in Text Mining only
Tauopathies	Tauopathies	BEFREE	27502124, 30659642		★☆☆☆☆ Found in Text Mining only
Thyroid Cancer Papillary	Papillary thyroid cancer	Pubtator	35599603	Associate	★☆☆☆☆ Found in Text Mining only
TREMOR, HEREDITARY ESSENTIAL, 4	Tremor	CLINVAR_DG	19251627, 20577002, 20606625, 20668259, 22055719, 23577159, 24204307, 24908169, 25324524		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
TREMOR, HEREDITARY ESSENTIAL, 4	Tremor	UNIPROT_DG	22863194		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
TREMOR, HEREDITARY ESSENTIAL, 4	Tremor	CTD_human_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Triple Negative Breast Neoplasms	Triple negative breast cancer	Pubtator	36806670	Associate	★☆☆☆☆ Found in Text Mining only
Tumor Lysis Syndrome	Tumor Lysis Syndrome	BEFREE	30567109		★☆☆☆☆ Found in Text Mining only
Unipolar Depression	Mental Depression	BEFREE	28458041		★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	36420257	Associate	★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	29909347	Associate	★☆☆☆☆ Found in Text Mining only
Vascular Calcification	Vascular calcification	Pubtator	38012555	Associate	★☆☆☆☆ Found in Text Mining only
Vascular Malformation Primary Intraosseous	Vascular malformation	Pubtator	30720533, 33382123	Associate	★☆☆☆☆ Found in Text Mining only
Xeroderma Pigmentosum	Xeroderma Pigmentosum	BEFREE	14726018, 24704021		★☆☆☆☆ Found in Text Mining only