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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	23451
Gene name	Splicing factor 3b subunit 1
Gene symbol	SF3B1
Synonyms (NCBI Gene)	Hsh155MDSPRP10PRPF10SAP155SF3b155
Chromosome	2
Chromosome location	2q33.1
Summary	This gene encodes subunit 1 of the splicing factor 3b protein complex. Splicing factor 3b, together with splicing factor 3a and a 12S RNA unit, forms the U2 small nuclear ribonucleoproteins complex (U2 snRNP). The splicing factor 3b/3a complex binds pre-m

Show/Hide all (9)

SNP ID	Visualize variation	Clinical significance	Consequence
rs374250186	T>A,C,G	Likely-pathogenic	Non coding transcript variant, genic downstream transcript variant, coding sequence variant, missense variant
rs377023736	C>A,G	Not-provided, likely-pathogenic, pathogenic	Coding sequence variant, missense variant, genic downstream transcript variant, non coding transcript variant
rs559063155	T>A,C,G	Likely-pathogenic	Genic downstream transcript variant, missense variant, coding sequence variant, stop gained, non coding transcript variant
rs754688962	T>C,G	Likely-pathogenic	Genic downstream transcript variant, coding sequence variant, missense variant, non coding transcript variant
rs755415626	C>T	Likely-pathogenic	Genic downstream transcript variant, coding sequence variant, missense variant, non coding transcript variant
rs775623976	G>A,C	Likely-pathogenic	Missense variant, non coding transcript variant, coding sequence variant, genic downstream transcript variant
rs1057519755	T>A,G	Likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant, genic downstream transcript variant
rs1057519756	T>A,C,G	Likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant, genic downstream transcript variant
rs1057519961	C>T	Likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant, genic downstream transcript variant

215

Show/Hide all (215)

miRTarBase ID	miRNA	Experiments	Reference
MIRT052156	hsa-let-7b-5p	CLASH	23622248
MIRT042496	hsa-miR-423-3p	CLASH	23622248
MIRT041092	hsa-miR-504-5p	CLASH	23622248
MIRT040227	hsa-miR-615-3p	CLASH	23622248
MIRT052776	hsa-miR-1260b	CLASH	23622248
MIRT631736	hsa-miR-6890-3p	HITS-CLIP	23824327
MIRT631735	hsa-miR-1247-3p	HITS-CLIP	23824327
MIRT631734	hsa-miR-4532	HITS-CLIP	23824327
MIRT631733	hsa-miR-4485-5p	HITS-CLIP	23824327
MIRT631732	hsa-miR-1281	HITS-CLIP	23824327
MIRT666447	hsa-miR-6741-3p	HITS-CLIP	23824327
MIRT631731	hsa-miR-1304-3p	HITS-CLIP	23824327
MIRT666446	hsa-miR-1307-3p	HITS-CLIP	23824327
MIRT666445	hsa-miR-4638-5p	HITS-CLIP	23824327
MIRT631730	hsa-miR-2276-3p	HITS-CLIP	23824327
MIRT631729	hsa-miR-6778-3p	HITS-CLIP	23824327
MIRT666444	hsa-miR-4284	HITS-CLIP	23824327
MIRT631728	hsa-miR-498	HITS-CLIP	23824327
MIRT631736	hsa-miR-6890-3p	HITS-CLIP	23824327
MIRT631735	hsa-miR-1247-3p	HITS-CLIP	23824327
MIRT631734	hsa-miR-4532	HITS-CLIP	23824327
MIRT631733	hsa-miR-4485-5p	HITS-CLIP	23824327
MIRT631732	hsa-miR-1281	HITS-CLIP	23824327
MIRT631731	hsa-miR-1304-3p	HITS-CLIP	23824327
MIRT631730	hsa-miR-2276-3p	HITS-CLIP	23824327
MIRT631729	hsa-miR-6778-3p	HITS-CLIP	23824327
MIRT631728	hsa-miR-498	HITS-CLIP	23824327
MIRT627622	hsa-miR-4722-3p	HITS-CLIP	23824327
MIRT627621	hsa-miR-6727-3p	HITS-CLIP	23824327
MIRT627620	hsa-miR-6747-3p	HITS-CLIP	23824327
MIRT627619	hsa-miR-325	HITS-CLIP	23824327
MIRT627618	hsa-miR-3653-5p	HITS-CLIP	23824327
MIRT627617	hsa-miR-3199	HITS-CLIP	23824327
MIRT627616	hsa-miR-8052	HITS-CLIP	23824327
MIRT627615	hsa-miR-365a-5p	HITS-CLIP	23824327
MIRT627614	hsa-miR-365b-5p	HITS-CLIP	23824327
MIRT529768	hsa-miR-495-5p	PAR-CLIP	22012620
MIRT529767	hsa-miR-382-5p	PAR-CLIP	22012620
MIRT529766	hsa-miR-3529-5p	PAR-CLIP	22012620
MIRT529765	hsa-miR-379-5p	PAR-CLIP	22012620
MIRT529764	hsa-miR-4639-5p	PAR-CLIP	22012620
MIRT439662	hsa-miR-493-5p	HITS-CLIP	24374217
MIRT439660	hsa-miR-127-5p	HITS-CLIP	24374217
MIRT439661	hsa-miR-539-5p	HITS-CLIP	24374217
MIRT439662	hsa-miR-493-5p	HITS-CLIP	24374217
MIRT439660	hsa-miR-127-5p	HITS-CLIP	24374217
MIRT439661	hsa-miR-539-5p	HITS-CLIP	24374217
MIRT631736	hsa-miR-6890-3p	HITS-CLIP	23824327
MIRT631735	hsa-miR-1247-3p	HITS-CLIP	23824327
MIRT631734	hsa-miR-4532	HITS-CLIP	23824327
MIRT631733	hsa-miR-4485-5p	HITS-CLIP	23824327
MIRT631732	hsa-miR-1281	HITS-CLIP	23824327
MIRT666447	hsa-miR-6741-3p	HITS-CLIP	23824327
MIRT631731	hsa-miR-1304-3p	HITS-CLIP	23824327
MIRT666446	hsa-miR-1307-3p	HITS-CLIP	23824327
MIRT666445	hsa-miR-4638-5p	HITS-CLIP	23824327
MIRT631730	hsa-miR-2276-3p	HITS-CLIP	23824327
MIRT631729	hsa-miR-6778-3p	HITS-CLIP	23824327
MIRT666444	hsa-miR-4284	HITS-CLIP	23824327
MIRT631728	hsa-miR-498	HITS-CLIP	23824327
MIRT631736	hsa-miR-6890-3p	HITS-CLIP	23824327
MIRT631735	hsa-miR-1247-3p	HITS-CLIP	23824327
MIRT631734	hsa-miR-4532	HITS-CLIP	23824327
MIRT631733	hsa-miR-4485-5p	HITS-CLIP	23824327
MIRT631732	hsa-miR-1281	HITS-CLIP	23824327
MIRT631731	hsa-miR-1304-3p	HITS-CLIP	23824327
MIRT631730	hsa-miR-2276-3p	HITS-CLIP	23824327
MIRT631729	hsa-miR-6778-3p	HITS-CLIP	23824327
MIRT631728	hsa-miR-498	HITS-CLIP	23824327
MIRT627622	hsa-miR-4722-3p	HITS-CLIP	23824327
MIRT627621	hsa-miR-6727-3p	HITS-CLIP	23824327
MIRT627620	hsa-miR-6747-3p	HITS-CLIP	23824327
MIRT627619	hsa-miR-325	HITS-CLIP	23824327
MIRT627618	hsa-miR-3653-5p	HITS-CLIP	23824327
MIRT627617	hsa-miR-3199	HITS-CLIP	23824327
MIRT627616	hsa-miR-8052	HITS-CLIP	23824327
MIRT627615	hsa-miR-365a-5p	HITS-CLIP	23824327
MIRT627614	hsa-miR-365b-5p	HITS-CLIP	23824327
MIRT529768	hsa-miR-495-5p	PAR-CLIP	22012620
MIRT529767	hsa-miR-382-5p	PAR-CLIP	22012620
MIRT529766	hsa-miR-3529-5p	PAR-CLIP	22012620
MIRT529765	hsa-miR-379-5p	PAR-CLIP	22012620
MIRT529764	hsa-miR-4639-5p	PAR-CLIP	22012620
MIRT1341177	hsa-miR-1208	CLIP-seq
MIRT1341178	hsa-miR-1236	CLIP-seq
MIRT1341179	hsa-miR-1243	CLIP-seq
MIRT1341180	hsa-miR-1256	CLIP-seq
MIRT1341181	hsa-miR-1290	CLIP-seq
MIRT1341182	hsa-miR-18a	CLIP-seq
MIRT1341183	hsa-miR-18b	CLIP-seq
MIRT1341184	hsa-miR-193a-3p	CLIP-seq
MIRT1341185	hsa-miR-193b	CLIP-seq
MIRT1341186	hsa-miR-2116	CLIP-seq
MIRT1341187	hsa-miR-3143	CLIP-seq
MIRT1341188	hsa-miR-3167	CLIP-seq
MIRT1341189	hsa-miR-3168	CLIP-seq
MIRT1341190	hsa-miR-330-3p	CLIP-seq
MIRT1341191	hsa-miR-34b	CLIP-seq
MIRT1341192	hsa-miR-3654	CLIP-seq
MIRT1341193	hsa-miR-3925-3p	CLIP-seq
MIRT1341194	hsa-miR-410	CLIP-seq
MIRT1341195	hsa-miR-4277	CLIP-seq
MIRT1341196	hsa-miR-4280	CLIP-seq
MIRT1341197	hsa-miR-4477b	CLIP-seq
MIRT1341198	hsa-miR-452	CLIP-seq
MIRT1341199	hsa-miR-4676-3p	CLIP-seq
MIRT1341200	hsa-miR-4677-5p	CLIP-seq
MIRT1341201	hsa-miR-4693-5p	CLIP-seq
MIRT1341202	hsa-miR-4699-3p	CLIP-seq
MIRT1341203	hsa-miR-4712-5p	CLIP-seq
MIRT1341204	hsa-miR-4720-5p	CLIP-seq
MIRT1341205	hsa-miR-4735-3p	CLIP-seq
MIRT1341206	hsa-miR-4799-3p	CLIP-seq
MIRT1341207	hsa-miR-4799-5p	CLIP-seq
MIRT1341208	hsa-miR-499-3p	CLIP-seq
MIRT1341209	hsa-miR-499a-3p	CLIP-seq
MIRT1341210	hsa-miR-561	CLIP-seq
MIRT1341211	hsa-miR-770-5p	CLIP-seq
MIRT1341212	hsa-miR-876-5p	CLIP-seq
MIRT1341213	hsa-miR-892a	CLIP-seq
MIRT1341214	hsa-miR-892b	CLIP-seq
MIRT1341177	hsa-miR-1208	CLIP-seq
MIRT1341180	hsa-miR-1256	CLIP-seq
MIRT2100986	hsa-miR-1470	CLIP-seq
MIRT1341182	hsa-miR-18a	CLIP-seq
MIRT1341183	hsa-miR-18b	CLIP-seq
MIRT1341184	hsa-miR-193a-3p	CLIP-seq
MIRT1341185	hsa-miR-193b	CLIP-seq
MIRT1341186	hsa-miR-2116	CLIP-seq
MIRT1341187	hsa-miR-3143	CLIP-seq
MIRT1341190	hsa-miR-330-3p	CLIP-seq
MIRT1341191	hsa-miR-34b	CLIP-seq
MIRT1341193	hsa-miR-3925-3p	CLIP-seq
MIRT1341194	hsa-miR-410	CLIP-seq
MIRT1341196	hsa-miR-4280	CLIP-seq
MIRT1341197	hsa-miR-4477b	CLIP-seq
MIRT1341198	hsa-miR-452	CLIP-seq
MIRT2100987	hsa-miR-4667-3p	CLIP-seq
MIRT1341199	hsa-miR-4676-3p	CLIP-seq
MIRT1341200	hsa-miR-4677-5p	CLIP-seq
MIRT1341201	hsa-miR-4693-5p	CLIP-seq
MIRT1341202	hsa-miR-4699-3p	CLIP-seq
MIRT1341203	hsa-miR-4712-5p	CLIP-seq
MIRT1341204	hsa-miR-4720-5p	CLIP-seq
MIRT2100988	hsa-miR-4731-3p	CLIP-seq
MIRT1341205	hsa-miR-4735-3p	CLIP-seq
MIRT1341206	hsa-miR-4799-3p	CLIP-seq
MIRT2100989	hsa-miR-4801	CLIP-seq
MIRT2100990	hsa-miR-548c-3p	CLIP-seq
MIRT2100991	hsa-miR-605	CLIP-seq
MIRT1341211	hsa-miR-770-5p	CLIP-seq
MIRT1341213	hsa-miR-892a	CLIP-seq
MIRT1341214	hsa-miR-892b	CLIP-seq
MIRT2325498	hsa-miR-136	CLIP-seq
MIRT2325499	hsa-miR-214	CLIP-seq
MIRT2325500	hsa-miR-3619-5p	CLIP-seq
MIRT1341195	hsa-miR-4277	CLIP-seq
MIRT2325501	hsa-miR-4291	CLIP-seq
MIRT2325502	hsa-miR-761	CLIP-seq
MIRT2325503	hsa-miR-922	CLIP-seq
MIRT2394283	hsa-miR-204	CLIP-seq
MIRT2394284	hsa-miR-211	CLIP-seq
MIRT2394285	hsa-miR-3938	CLIP-seq
MIRT2394286	hsa-miR-4457	CLIP-seq
MIRT2100988	hsa-miR-4731-3p	CLIP-seq
MIRT2394287	hsa-miR-4755-5p	CLIP-seq
MIRT2100989	hsa-miR-4801	CLIP-seq
MIRT2394288	hsa-miR-543	CLIP-seq
MIRT2394289	hsa-miR-623	CLIP-seq
MIRT1341180	hsa-miR-1256	CLIP-seq
MIRT2433051	hsa-miR-154	CLIP-seq
MIRT1341187	hsa-miR-3143	CLIP-seq
MIRT1341190	hsa-miR-330-3p	CLIP-seq
MIRT2433052	hsa-miR-3613-3p	CLIP-seq
MIRT1341197	hsa-miR-4477b	CLIP-seq
MIRT1341198	hsa-miR-452	CLIP-seq
MIRT1341199	hsa-miR-4676-3p	CLIP-seq
MIRT1341201	hsa-miR-4693-5p	CLIP-seq
MIRT1341202	hsa-miR-4699-3p	CLIP-seq
MIRT1341187	hsa-miR-3143	CLIP-seq
MIRT2433052	hsa-miR-3613-3p	CLIP-seq
MIRT1341178	hsa-miR-1236	CLIP-seq
MIRT1341179	hsa-miR-1243	CLIP-seq
MIRT1341180	hsa-miR-1256	CLIP-seq
MIRT1341181	hsa-miR-1290	CLIP-seq
MIRT2433051	hsa-miR-154	CLIP-seq
MIRT1341187	hsa-miR-3143	CLIP-seq
MIRT1341188	hsa-miR-3167	CLIP-seq
MIRT1341189	hsa-miR-3168	CLIP-seq
MIRT2433052	hsa-miR-3613-3p	CLIP-seq
MIRT1341192	hsa-miR-3654	CLIP-seq
MIRT1341195	hsa-miR-4277	CLIP-seq
MIRT1341198	hsa-miR-452	CLIP-seq
MIRT1341199	hsa-miR-4676-3p	CLIP-seq
MIRT1341201	hsa-miR-4693-5p	CLIP-seq
MIRT1341202	hsa-miR-4699-3p	CLIP-seq
MIRT2100990	hsa-miR-548c-3p	CLIP-seq
MIRT1341212	hsa-miR-876-5p	CLIP-seq
MIRT1341178	hsa-miR-1236	CLIP-seq
MIRT1341179	hsa-miR-1243	CLIP-seq
MIRT1341180	hsa-miR-1256	CLIP-seq
MIRT1341181	hsa-miR-1290	CLIP-seq
MIRT2433051	hsa-miR-154	CLIP-seq
MIRT1341187	hsa-miR-3143	CLIP-seq
MIRT1341188	hsa-miR-3167	CLIP-seq
MIRT1341189	hsa-miR-3168	CLIP-seq
MIRT2433052	hsa-miR-3613-3p	CLIP-seq
MIRT1341192	hsa-miR-3654	CLIP-seq
MIRT1341195	hsa-miR-4277	CLIP-seq
MIRT1341198	hsa-miR-452	CLIP-seq
MIRT1341199	hsa-miR-4676-3p	CLIP-seq
MIRT1341201	hsa-miR-4693-5p	CLIP-seq
MIRT1341202	hsa-miR-4699-3p	CLIP-seq
MIRT2100990	hsa-miR-548c-3p	CLIP-seq
MIRT1341212	hsa-miR-876-5p	CLIP-seq

Show/Hide all (1)

Transcription factor	Regulation	Reference
SF1	Unknown	16376933

Show/Hide all (49)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000245	Process	Spliceosomal complex assembly	IBA
GO:0000245	Process	Spliceosomal complex assembly	IEA
GO:0000375	Process	RNA splicing, via transesterification reactions	NAS	9585501
GO:0000398	Process	MRNA splicing, via spliceosome	IC	11991638
GO:0000398	Process	MRNA splicing, via spliceosome	IDA	11252167
GO:0000398	Process	MRNA splicing, via spliceosome	IDA	27720643, 28781166, 29360106, 32494006, 34822310, 36797247
GO:0000398	Process	MRNA splicing, via spliceosome	IEA
GO:0000398	Process	MRNA splicing, via spliceosome	NAS	9585501, 31744343
GO:0000785	Component	Chromatin	IEA
GO:0003723	Function	RNA binding	HDA	22658674, 22681889
GO:0003723	Function	RNA binding	IDA	27720643
GO:0003723	Function	RNA binding	IEA
GO:0003729	Function	MRNA binding	IBA
GO:0003729	Function	MRNA binding	IEA
GO:0005515	Function	Protein binding	IPI	16432215, 17332742, 17589525, 19515850, 21062891, 22365833, 26575292, 27720643, 28514442, 30567737, 33961781, 35271311, 37207277, 37219487
GO:0005634	Component	Nucleus	IDA	18559850, 27720643, 28541300, 28781166, 29360106
GO:0005634	Component	Nucleus	IEA
GO:0005634	Component	Nucleus	NAS	31744343
GO:0005654	Component	Nucleoplasm	TAS
GO:0005681	Component	Spliceosomal complex	IEA
GO:0005681	Component	Spliceosomal complex	NAS	9585501, 31744343
GO:0005684	Component	U2-type spliceosomal complex	IDA	32494006, 34822310, 36797247
GO:0005684	Component	U2-type spliceosomal complex	IPI	27720643
GO:0005686	Component	U2 snRNP	IBA
GO:0005686	Component	U2 snRNP	IDA	11252167
GO:0005686	Component	U2 snRNP	IEA
GO:0005686	Component	U2 snRNP	NAS	31744343
GO:0005689	Component	U12-type spliceosomal complex	IBA
GO:0005689	Component	U12-type spliceosomal complex	IDA	15146077
GO:0005730	Component	Nucleolus	NAS	23555303
GO:0006338	Process	Chromatin remodeling	NAS	12769854
GO:0006397	Process	MRNA processing	IEA
GO:0008380	Process	RNA splicing	IC	27720643
GO:0008380	Process	RNA splicing	IEA
GO:0016607	Component	Nuclear speck	IDA
GO:0016607	Component	Nuclear speck	IEA
GO:0031981	Component	Nuclear lumen	IEA
GO:0034693	Component	U11/U12 snRNP	IDA	11252167
GO:0045943	Process	Positive regulation of transcription by RNA polymerase I	NAS	23555303
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	NAS	26044184
GO:0045945	Process	Positive regulation of transcription by RNA polymerase III	IDA	16603771
GO:0071004	Component	U2-type prespliceosome	IBA
GO:0071005	Component	U2-type precatalytic spliceosome	IDA	28781166, 29360106
GO:0071013	Component	Catalytic step 2 spliceosome	IBA
GO:0071013	Component	Catalytic step 2 spliceosome	IDA	11991638
GO:0110016	Component	B-WICH complex	IDA	16603771
GO:1903241	Process	U2-type prespliceosome assembly	NAS	31744343
GO:1990935	Function	Splicing factor binding	IDA	27720643
GO:1990935	Function	Splicing factor binding	IPI	16376933

MIM	HGNC	e!Ensembl
605590	10768	ENSG00000115524

O75533

Protein name

Splicing factor 3B subunit 1 (Pre-mRNA-splicing factor SF3b 155 kDa subunit) (SF3b155) (Spliceosome-associated protein 155) (SAP 155)

Protein function

Component of the 17S U2 SnRNP complex of the spliceosome, a large ribonucleoprotein complex that removes introns from transcribed pre-mRNAs (PubMed:12234937, PubMed:27720643, PubMed:32494006, PubMed:34822310). The 17S U2 SnRNP complex (1) direct

PDB

2F9D , 2F9J , 2FHO , 2PEH , 3LQV , 4OZ1 , 5IFE , 5O9Z , 5Z56 , 5Z57 , 5Z58 , 5ZYA , 6AH0 , 6AHD , 6EN4 , 6FF4 , 6FF7 , 6N3E , 6QX9 , 6Y50 , 6Y53 , 6Y5Q , 7ABG , 7ABH , 7ABI , 7B0I , 7B91 , 7B92 , 7B9C , 7DVQ , 7EVN , 7EVO , 7OMF , 7ONB , 7OPI , 7Q3L , 7Q4O , 7Q4P , 7QTT , 7SN6 , 7VPX , 8CH6 , 8H6E , 8H6J , 8H6K , 8H6L , 8HK1 , 8I0P , 8I0R , 8I0S , 8I0T

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF08920	SF3b1	329 → 452	Splicing factor 3B subunit 1	Domain

Sequence

MAKIAKTHEDIEAQIREIQGKKAALDEAQGVGLDSTGYYDQEIYGGSDSRFAGYVTSIAA
TELEDDDDDYSSSTSLLGQKKPGYHAPVALLNDIPQSTEQYDPFAEHRPPKIADREDEYK
KHRRTMIISPERLDPFADGGKTPDPKMNARTYMDVMREQHLTKEEREIRQQLAEKAKAGE
LKVVNGAAASQPPSKRKRRWDQTADQTPGATPKKLSSWDQAETPGHTPSLRWDETPGRAK
GSETPGATPGSKIWDPTPSHTPAGAATPGRGDTPGHATPGHGGATSSARKNRWDETPKTE
RDTPGHGSGWAETPRTDRGGDSIGETPTPGASKRKSRWDETPASQMGGSTPVLTPGKTPI
GTPAMNMATPTPGHIMSMTPEQLQAWRWEREIDERNRPLSDEELDAMFPEGYKVLPPPAG
YVPIRTPARKLTATPTPLGGMTGFHMQTEDRTMKSVNDQPSGNLPFLKPDDIQYFDKLLV
DVDESTLSPEEQKERKIMKLLLKIKNGTPPMRKAALRQITDKAREFGAGPLFNQILPLLM
SPTLEDQERHLLVKVIDRILYKLDDLVRPYVHKILVVIEPLLIDEDYYARVEGREIISNL
AKAAGLATMISTMRPDIDNMDEYVRNTTARAFAVVASALGIPSLLPFLKAVCKSKKSWQA
RHTGIKIVQQIAILMGCAILPHLRSLVEIIEHGLVDEQQKVRTISALAIAALAEAATPYG
IESFDSVLKPLWKGIRQHRGKGLAAFLKAIGYLIPLMDAEYANYYTREVMLILIREFQSP
DEEMKKIVLKVVKQCCGTDGVEANYIKTEILPPFFKHFWQHRMALDRRNYRQLVDTTVEL
ANKVGAAEIISRIVDDLKDEAEQYRKMVMETIEKIMGNLGAADIDHKLEEQLIDGILYAF
QEQTTEDSVMLNGFGTVVNALGKRVKPYLPQICGTVLWRLNNKSAKVRQQAADLISRTAV
VMKTCQEEKLMGHLGVVLYEYLGEEYPEVLGSILGALKAIVNVIGMHKMTPPIKDLLPRL
TPILKNRHEKVQENCIDLVGRIADRGAEYVSAREWMRICFELLELLKAHKKAIRRATVNT
FGYIAKAIGPHDVLATLLNNLKVQERQNRVCTTVAIAIVAETCSPFTVLPALMNEYRVPE
LNVQNGVLKSLSFLFEYIGEMGKDYIYAVTPLLEDALMDRDLVHRQTASAVVQHMSLGVY
GFGCEDSLNHLLNYVWPNVFETSPHVIQAVMGALEGLRVAIGPCRMLQYCLQGLFHPARK
VRDVYWKIYNSIYIGSQDALIAHYPRIYNDDKNTYIRYELDYIL

Sequence length

1304

Interactions

View interactions

	KEGG		Reactome
	Spliceosome		B-WICH complex positively regulates rRNA expression mRNA Splicing - Major Pathway mRNA Splicing - Minor Pathway

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

Show/Hide Causal Diseases (3)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Acute myeloid leukemia	Likely pathogenic	rs377023736	RCV000420231	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Myelodysplastic syndrome	Likely pathogenic; Pathogenic	rs377023736	RCV000431140 RCV005252885	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Myelodysplastic syndrome progressed to acute myeloid leukemia	Likely pathogenic; Pathogenic	rs377023736	RCV000203465	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (32)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Acral lentiginous melanoma	-	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATRIAL FIBRILLATION	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BIPOLAR DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Chronic lymphocytic leukemia/small lymphocytic lymphoma	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Chronic myelogenous leukemia, BCR-ABL1 positive	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COMPLEX NEURODEVELOPMENTAL DISORDER	—	GenCC	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial pancreatic carcinoma	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Germ cell tumor of testis	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LEUKEMIA, LYMPHOCYTIC, CHRONIC, B-CELL	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lymphoma	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MESOTHELIOMA, MALIGNANT	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYELODYSPLASTIC SYNDROMES	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neoplasm	Conflicting classifications of pathogenicity; -	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neurodevelopmental disorder	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEURODEVELOPMENTAL DISORDERS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian cancer	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATIC NEOPLASMS	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SF3B1-related disorder	Benign; Uncertain significance; Likely benign; Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
UVEAL MELANOMA	—	CTD, Orphanet CTD, Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (201)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Acute Erythroblastic Leukemia	Erythroblastic Leukemia	BEFREE	29729583		★★★★★ ★☆☆☆☆ Found in Text Mining only
Acute leukemia	Leukemia	BEFREE	28615231		★★★★★ ★☆☆☆☆ Found in Text Mining only
Acute monocytic leukemia	Monocytic Leukemia	BEFREE	27881874		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adenoid Cystic Carcinoma	Adenocarcinoma	CLINVAR_DG	26619011		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adult Acute Myeloblastic Leukemia	Myeloblastic Leukemia	BEFREE	31744691		★★★★★ ★☆☆☆☆ Found in Text Mining only
Agranulocytosis	Agranulocytosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Anemia	Anemia	BEFREE	26255870, 27604819, 29433555, 31203517		★★★★★ ★☆☆☆☆ Found in Text Mining only
Anemia	Anemia	Pubtator	29433555, 32243522, 34930825	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Anemia Aplastic	Aplastic anemia	Pubtator	34587721	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Anemia Hemolytic	Hemolytic anemia	Pubtator	26255870	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Anemia Refractory	Refractory anemia	Pubtator	22096241, 23070040, 23300182, 24723457, 25428262, 25955609, 25957392, 26874914, 28545085, 29433555	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Anemia Sideroblastic	Sideroblastic anemia	Pubtator	34861039, 34930825	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Anemia, Macrocytic	Anemia	BEFREE	25481243, 27622333		★★★★★ ★☆☆☆☆ Found in Text Mining only
Aneuploidy	Aneuploidy	Pubtator	37463047	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Anxiety	Anxiety Disorder	BEFREE	30032927, 31561398		★★★★★ ★☆☆☆☆ Found in Text Mining only
Anxiety Disorders	Anxiety Disorder	BEFREE	30032927, 31561398		★★★★★ ★☆☆☆☆ Found in Text Mining only
Aplastic Anemia	Aplastic anemia	BEFREE	28935248		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ataxia Telangiectasia	Ataxia telangiectasia	Pubtator	30726782, 32573691	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Behcet Syndrome	Behcet Syndrome	BEFREE	30457024		★★★★★ ★☆☆☆☆ Found in Text Mining only
Bjornstad syndrome	Bjornstad syndrome	Pubtator	37558665	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Blast Phase	Blast phase chronic myelogenous leukemia	BEFREE	30928887		★★★★★ ★☆☆☆☆ Found in Text Mining only
Bone Marrow Diseases	Bone marrow diseases	Pubtator	35427424	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Bone Marrow failure syndromes	Bone marrow failure syndrome	BEFREE	30940907		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	25424858, 25768983, 28198434, 29023197, 29383138		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	22722193, 25424858, 25431237, 28198434, 29023197, 36792691, 38003265, 38523186	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	25139387	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	32188705, 33932092, 34502260	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	28622513, 32352217, 32552682, 34288818	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Intraductal Noninfiltrating	Intraductal noninfiltrating carcinoma	Pubtator	38523186	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Pancreatic Ductal	Pancreatic ductal carcinoma	Pubtator	33932092	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
CATARACT, MARNER TYPE	Cataract	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
cervical cancer	Cervical Cancer	BEFREE	30963795		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervix carcinoma	Cervix carcinoma	BEFREE	30963795		★★★★★ ★☆☆☆☆ Found in Text Mining only
Childhood Acute Myeloid Leukemia	Acute Myeloid Leukemia	BEFREE	25553291, 31744691		★★★★★ ★☆☆☆☆ Found in Text Mining only
Chromophobe Renal Cell Carcinoma	Chromophobe Carcinoma	BEFREE	31200327		★★★★★ ★☆☆☆☆ Found in Text Mining only
Chronic Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	22039264, 22150006, 22158541, 22200771, 22484420, 23086750, 23123942, 23160465, 23270583, 23395771, 23415222, 23435461, 23558524, 23568491, 23620403 View all (22 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Chronic Lymphocytic Leukemia	Lymphocytic Leukemia	CTD_human_DG	22158541		★★★★★ ★☆☆☆☆ Found in Text Mining only
Chronic Lymphocytic Leukemia	Lymphocytic Leukemia	CLINVAR_DG	26619011		★★★★★ ★☆☆☆☆ Found in Text Mining only
Chronic myeloproliferative disorder	Myeloproliferative disorder	BEFREE	26874914, 30594750, 31473630		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	30719229		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	22496461	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	28747380, 29641532	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital chromosomal disease	Congenital Chromosomal Disease	BEFREE	24036852, 26709197, 27742074, 29726589, 31230372		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital lamellar cataract	Congenital Cataract	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	BEFREE	28052545		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	Pubtator	39460851	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn Disease	BEFREE	30457024		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cutaneous Melanoma	Melanoma	BEFREE	23694694, 24709888, 26769193, 31655118		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cutaneous Melanoma	Melanoma	CLINVAR_DG	26619011		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cyclic neutropenia	Cyclic neutropenia	Pubtator	29866652, 34963005	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Deglutition Disorders	Dysphagia	BEFREE	31344030		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dementia	Dementia	BEFREE	28911255, 30124451		★★★★★ ★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	BEFREE	28847794, 29078029, 30032927, 30309805, 31561398		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes mellitus	Pubtator	38305890	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Disruptive, Impulse Control, and Conduct Disorders	Impulse control disorder	BEFREE	31167116		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dyskinetic syndrome	Dyskinetic Syndrome	BEFREE	28954882, 31133973		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dysplastic granulopoesis	Dysplastic granulopoesis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Endometrial Neoplasms	Endometrial neoplasm	Pubtator	32320410	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Essential Tremor	Tremor	BEFREE	28911255		★★★★★ ★☆☆☆☆ Found in Text Mining only
Essential Tremor	Essential tremor	Pubtator	31945802	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Ewings sarcoma	Ewing sarcoma	BEFREE	30165126		★★★★★ ★☆☆☆☆ Found in Text Mining only
GATA2 Deficiency	Gata2 deficiency	Pubtator	37103105	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Gaucher Disease, Type 1	Gaucher Disease	BEFREE	31221723		★★★★★ ★☆☆☆☆ Found in Text Mining only
Genetic Predisposition to Disease	Genetic predisposition to disease	Pubtator	32143579	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Head and Neck Carcinoma	Head And Neck Carcinoma	BEFREE	25139387		★★★★★ ★☆☆☆☆ Found in Text Mining only
Heart Diseases	Heart Diseases	BEFREE	26083752		★★★★★ ★☆☆☆☆ Found in Text Mining only
Heart failure	Heart Failure	BEFREE	28052545		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hematologic Diseases	Hematologic disease	Pubtator	21995386, 31350794, 37463047	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hematologic Neoplasms	Hematologic Neoplasms	BEFREE	24735968, 31168457, 31707043, 31744691		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hematologic Neoplasms	Hematologic neoplasm	Pubtator	30577887, 31640290, 32320410, 32332164, 33155727, 34570179, 35478057, 36792691, 40158006	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hepatoblastoma	Hepatoblastoma	BEFREE	24811221		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hodgkin Disease	Hodgkin Disease	BEFREE	10967573		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypochromic anemia	Hypochromic anemia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	BEFREE	30109466		★★★★★ ★☆☆☆☆ Found in Text Mining only
Inferior lens subluxation	Inferior lens subluxation	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Inflammatory abnormality of the eye	Inflammatory abnormality of the eye	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory Bowel Disease	BEFREE	31039157		★★★★★ ★☆☆☆☆ Found in Text Mining only
Iron Overload	Iron overload	Pubtator	23300182	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Iron Overload	Iron Overload	BEFREE	24854990, 26970172		★★★★★ ★☆☆☆☆ Found in Text Mining only
Juvenile Myelomonocytic Leukemia	Myelomonocytic Leukemia	BEFREE	22773603, 22968464		★★★★★ ★☆☆☆☆ Found in Text Mining only
Kidney Neoplasm	Kidney Neoplasm	BEFREE	31200327		★★★★★ ★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	BEFREE	22096241, 30661660, 31124956		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia	Leukemia	Pubtator	22096241, 25326804, 28076841, 35061527, 35478057	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid	Myeloid leukemia	Pubtator	28545085, 31030497, 33978189, 34681880	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	21998214, 22773603, 22912701, 25331116, 25550361, 27983727, 30587503, 32001512, 32112433, 32320410, 32380535, 32699322, 32732356, 33081843, 33539200 View all (16 more)	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia Myelomonocytic Chronic	Myelomonocytic leukemia	Pubtator	22773603, 23335386, 35236051	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia Myelomonocytic Juvenile	Myelomonocytic leukemia	Pubtator	22773603	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	10653868, 21998214, 23395771, 23645565, 25331116, 26115659, 27881874, 28187034, 30054307, 30587503, 30741367, 31744691, 31744877		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	CLINVAR_DG	23395771, 23634996		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	CGI_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia, Myelomonocytic, Chronic	Myelomonocytic Leukemia	BEFREE	22773603, 22968464, 23335386, 30054307		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukodystrophy Metachromatic	Metachromatic leukodystrophy	Pubtator	40269371	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	CLINVAR_DG	26619011		★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	29954402, 31206197		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	33407425	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	Pubtator	25326804	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lymphoma, Non-Hodgkin	Non-Hodgkin lymphoma	BEFREE	10967573		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Head and Neck Neoplasm	Head and neck cancer	BEFREE	25139387		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant melanoma of choroid	Choroidal melanoma	ORPHANET_DG	23714557, 23861464		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant melanoma of choroid	Choroidal melanoma	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant melanoma of ciliary body	Ciliary body melanoma	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant melanoma of iris	Iris melanoma	ORPHANET_DG	23714557, 23861464		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant melanoma of iris	Iris melanoma	BEFREE	29371009		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant melanoma of iris	Iris melanoma	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant mesothelioma	Malignant Mesothelioma	CTD_human_DG	26928227		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	25424858, 25768983, 28198434, 29023197, 29383138		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of esophagus	Esophagus Neoplasm	BEFREE	29796163		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	CTD_human_DG	29610475		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	31344348		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	22150006, 23123942, 24811221, 25768983, 26562302, 26565915, 26842708, 27175787, 28062854, 28103691, 28394181, 28409567, 28445500, 28967088, 29383138 View all (8 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	CGI_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant tumor of cervix	Cervical Tumor	BEFREE	30963795		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	CLINVAR_DG	26619011		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mantle cell lymphoma	Mantle Cell Lymphoma	BEFREE	27407063		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mastocytosis	Mastocytosis	BEFREE	26562302		★★★★★ ★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	23694694, 23793026, 24709888, 26769193, 26842708, 26923342, 27739435, 28296713, 28409567, 28467829, 30847022, 31320640, 31655118		★★★★★ ★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	27089234, 27739435, 28296713, 29371009, 30558566, 30605742, 31320640, 33724703, 34071371, 34102999, 34571863	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Melanoma Cutaneous Malignant	Melanoma	Pubtator	23694694, 24709888, 29641532	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Mental Depression	Mental Depression	BEFREE	28847794, 29078029, 30032927, 30309805, 31561398		★★★★★ ★☆☆☆☆ Found in Text Mining only
Merkel cell carcinoma	Merkel cell carcinoma	BEFREE	30772903		★★★★★ ★☆☆☆☆ Found in Text Mining only
Miller Dieker syndrome	Miller Dieker Syndrome	BEFREE	25428262, 26643973, 27604819, 29433555, 29937400, 30409066		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mitochondrial Diseases	Mitochondrial disease	Pubtator	27211273	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Monocytosis	Monocytosis	BEFREE	26514544		★★★★★ ★☆☆☆☆ Found in Text Mining only
Movement Disorders	Movement Disorders	BEFREE	30583273		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mucinous Adenocarcinoma	Mucinous Adenocarcinoma	BEFREE	25424858		★★★★★ ★☆☆☆☆ Found in Text Mining only
mucosal melanoma	Mucosal Melanoma	BEFREE	28296713, 28467829, 30847022		★★★★★ ★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	BEFREE	12877670		★★★★★ ★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	Pubtator	32079689	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Muscular Atrophy Spinal	Spinal muscular atrophy	Pubtator	33317029	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Myelodysplasia	Myelodysplasia	BEFREE	21995386, 24141330, 24507814, 24735968, 24903747		★★★★★ ★☆☆☆☆ Found in Text Mining only
Myelodysplasia	Myelodysplasia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
MYELODYSPLASTIC SYNDROME	Myelodysplastic Syndrome	BEFREE	21995386, 21998214, 22096241, 22200771, 22323480, 22484420, 22826563, 22921018, 22968464, 23123942, 23160465, 23280334, 23300182, 23327988, 23335386 View all (55 more)		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
MYELODYSPLASTIC SYNDROME	Myelodysplastic Syndrome	CTD_human_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
MYELODYSPLASTIC SYNDROME	Myelodysplastic Syndrome	CGI_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
MYELODYSPLASTIC SYNDROME	Myelodysplastic Syndrome	HPO_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
MYELODYSPLASTIC SYNDROME	Myelodysplastic Syndrome	GENOMICS_ENGLAND_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Myelodysplastic Syndromes	Myelodysplastic syndrome	Pubtator	21995386, 21998214, 22096241, 22238327, 22323480, 22343920, 22389253, 22968464, 22983749, 23300180, 23300182, 23335386, 24220272, 24723457, 24970933 View all (82 more)	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myelodysplastic-Myeloproliferative Diseases	Myelodysplastic-Myeloproliferative Diseases	BEFREE	21998214, 23160465, 24507814, 28188970, 28466384, 30594750, 30618061		★★★★★ ★☆☆☆☆ Found in Text Mining only
Myelofibrosis	Myelofibrosis	BEFREE	29181548		★★★★★ ★☆☆☆☆ Found in Text Mining only
Myeloid Leukemia, Chronic	Myeloid Leukemia	BEFREE	23395771		★★★★★ ★☆☆☆☆ Found in Text Mining only
Myeloproliferative disease	Myeloproliferative disorder	BEFREE	24141330, 30594750, 30869816, 31473630		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nasopharyngeal Carcinoma	Nasopharyngeal carcinoma	Pubtator	35562651	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	22150006, 23160465, 23793026, 23887304, 24141330, 25345442, 25768983, 25862704, 26068951, 26769193, 26923342, 26928227, 26933176, 27604819, 28103691 View all (4 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neural Tube Defects	Neural tube defect	Pubtator	28062854, 30194306, 30587503	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neutropenia	Neutropenia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
NONAKA MYOPATHY	Inclusion body myopathy	BEFREE	28671143		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nonorganic psychosis	Nonorganic Psychosis	BEFREE	28735797, 30902528		★★★★★ ★☆☆☆☆ Found in Text Mining only
Normocytic anemia	Anemia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
NUT midline carcinoma	Carcinoma	BEFREE	28967088		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ocular Hypertension	Ocular Hypertension	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	BEFREE	30165126		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	33932092	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancytopenia	Pancytopenia	BEFREE	31300417		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancytopenia	Pancytopenia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	BEFREE	28185758, 28247193, 28320196, 28735797, 28911255, 29042162, 29273705, 29380907, 29572948, 29891223, 30147869, 30564614, 30718220, 30737581, 30856121 View all (8 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
PARKINSON DISEASE, LATE-ONSET	Parkinson disease	BEFREE	29625875, 31060986		★★★★★ ★☆☆☆☆ Found in Text Mining only
Parkinsonian Disorders	Parkinson Disease	BEFREE	27986830, 31665686		★★★★★ ★☆☆☆☆ Found in Text Mining only
Polyarteritis Nodosa	Polyarteritis Nodosa	BEFREE	29023197		★★★★★ ★☆☆☆☆ Found in Text Mining only
POLYARTERITIS NODOSA, CHILDHOOD-ONSET	Polyarteritis Nodosa	BEFREE	29023197		★★★★★ ★☆☆☆☆ Found in Text Mining only
Polycythemia Vera	Polycythemia Vera	BEFREE	30594750		★★★★★ ★☆☆☆☆ Found in Text Mining only
Polycythemia Vera	Polycythemia vera	Pubtator	31945802	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Presenile dementia	Senile Dementia	BEFREE	28911255, 30124451		★★★★★ ★☆☆☆☆ Found in Text Mining only
Primary Myelofibrosis	Myelofibrosis	BEFREE	22968464, 27447873, 28185911, 29181548		★★★★★ ★☆☆☆☆ Found in Text Mining only
Progressive supranuclear palsy	Progressive Supranuclear Palsy	BEFREE	31665686		★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	31344348		★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic Neoplasms	CTD_human_DG	29610475		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	29641532	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Psychotic Disorders	Psychosis	BEFREE	28735797, 30902528		★★★★★ ★☆☆☆☆ Found in Text Mining only
Refractory anaemia with excess blasts	Myelodysplastic syndrome	BEFREE	24668493		★★★★★ ★☆☆☆☆ Found in Text Mining only
Refractory anemia with ringed sideroblasts	Anemia With Ringed Sideroblasts	BEFREE	22826563, 23070040, 23300182, 24136165, 24507814, 24723457, 24735968, 25428262, 25899435, 25955609, 25957392, 26970172, 27622333, 27771989, 28188970 View all (4 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Refractory anemia with ringed sideroblasts	Anemia With Ringed Sideroblasts	ORPHANET_DG	24507814		★★★★★ ★☆☆☆☆ Found in Text Mining only
Refractory anemia with ringed sideroblasts	Anemia With Ringed Sideroblasts	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Refractory anemias	Anemia	BEFREE	22921018, 23594705, 26255870, 27391606, 28545085, 30811101		★★★★★ ★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	CLINVAR_DG	26619011		★★★★★ ★☆☆☆☆ Found in Text Mining only
Retinal Detachment	Retinal Detachment	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
RETINOSCHISIS 1, X-LINKED, JUVENILE	Retinoschisis, X-Linked	BEFREE	22826563, 24141330, 31089247		★★★★★ ★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	26460480		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	GWASCAT_DG	31374203		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
secondary acute myeloid leukemia	Myeloid leukemia	BEFREE	27983727		★★★★★ ★☆☆☆☆ Found in Text Mining only
Shwachman syndrome	Shwachman Syndrome	BEFREE	15642668		★★★★★ ★☆☆☆☆ Found in Text Mining only
Small Cell Lung Carcinoma	Small cell lung carcinoma	Pubtator	37390276	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Speech Disorders	Speech Disorders	BEFREE	31060986		★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of skin	Skin carcinoma	BEFREE	29796170		★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	31927557	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Thrombocythemia Essential	Essential thrombocythemia	Pubtator	27991718	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Thrombocythemia, Essential	Thrombocythemia	BEFREE	27447873, 30594750		★★★★★ ★☆☆☆☆ Found in Text Mining only
Thrombocytopenia	Thrombocytopenia	Pubtator	40342275	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Thrombocytosis	Thrombocytosis	BEFREE	23594705, 24507814, 25481243, 27391606, 30594750, 30811101		★★★★★ ★☆☆☆☆ Found in Text Mining only
Thrombocytosis	Thrombocytosis	Pubtator	23594705, 32694616	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Thrombocytosis	Thrombocytosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Transitional cell carcinoma of bladder	Bladder carcinoma	CLINVAR_DG	26619011		★★★★★ ★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	21672358, 32320410	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	30963795	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Uveal melanoma	Uveal Melanoma	BEFREE	23313955, 23694694, 23793026, 23861464, 24927141, 25361747, 26086698, 26683228, 26923342, 27123562, 28257297, 31426461, 31614358		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uveal melanoma	Uveal Melanoma	CTD_human_DG	23313955, 23793026		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uveal melanoma	Uveal melanoma	Pubtator	23313955, 23694694, 23793026, 23861464, 23887304, 24423917, 26683228, 26769193, 26842708, 27123562, 27745836, 28618948, 28810145, 29327717, 30073324 View all (8 more)	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uveal melanoma	Uveal Melanoma	ORPHANET_DG	23714557, 23861464		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uveal melanoma	Uveal Melanoma	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ventricular arrhythmia	Ventricular arrhythmia	BEFREE	28052545		★★★★★ ★☆☆☆☆ Found in Text Mining only

SF3B1 (splicing factor 3b subunit 1)