BACH2 (BACH transcriptional regulator 2)

Gene

• Entrez ID: 60468
• Gene name: BACH transcriptional regulator 2
• Gene symbol: BACH2
• Synonyms (NCBI Gene): BTBD25, IMD60
• Chromosome: 6
• Chromosome location: 6q15

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs757652995	C>T	Pathogenic	Missense variant, coding sequence variant, genic downstream transcript variant
rs1562364898	A>G	Pathogenic	Missense variant, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT018572	hsa-miR-335-5p	Microarray	18185580
MIRT020413	hsa-miR-29c-3p	Sequencing	20371350
MIRT039735	hsa-miR-615-3p	CLASH	23622248
MIRT609048	hsa-miR-8485	HITS-CLIP	19536157
MIRT719708	hsa-miR-6840-3p	HITS-CLIP	19536157
MIRT719707	hsa-miR-1915-3p	HITS-CLIP	19536157
MIRT719706	hsa-miR-6764-5p	HITS-CLIP	19536157
MIRT719705	hsa-miR-4726-3p	HITS-CLIP	19536157
MIRT318819	hsa-miR-8064	HITS-CLIP	19536157
MIRT719704	hsa-miR-507	HITS-CLIP	19536157
MIRT719703	hsa-miR-557	HITS-CLIP	19536157
MIRT609048	hsa-miR-8485	HITS-CLIP	19536157
MIRT719708	hsa-miR-6840-3p	HITS-CLIP	19536157
MIRT719707	hsa-miR-1915-3p	HITS-CLIP	19536157
MIRT719706	hsa-miR-6764-5p	HITS-CLIP	19536157
MIRT719705	hsa-miR-4726-3p	HITS-CLIP	19536157
MIRT318819	hsa-miR-8064	HITS-CLIP	19536157
MIRT719704	hsa-miR-507	HITS-CLIP	19536157
MIRT719703	hsa-miR-557	HITS-CLIP	19536157
MIRT708188	hsa-miR-4517	HITS-CLIP	21572407
MIRT708187	hsa-miR-5583-3p	HITS-CLIP	21572407
MIRT708186	hsa-miR-369-3p	HITS-CLIP	21572407
MIRT708185	hsa-miR-5692b	HITS-CLIP	21572407
MIRT708184	hsa-miR-5692c	HITS-CLIP	21572407
MIRT543066	hsa-miR-410-3p	HITS-CLIP	21572407
MIRT508031	hsa-miR-5011-5p	HITS-CLIP	21572407
MIRT543065	hsa-miR-656-3p	HITS-CLIP	21572407
MIRT708183	hsa-miR-3201	HITS-CLIP	21572407
MIRT708182	hsa-miR-4791	HITS-CLIP	21572407
MIRT708181	hsa-miR-374a-5p	HITS-CLIP	21572407
MIRT708180	hsa-miR-374b-5p	HITS-CLIP	21572407
MIRT508029	hsa-miR-190a-3p	HITS-CLIP	21572407
MIRT708179	hsa-let-7a-2-3p	HITS-CLIP	21572407
MIRT708178	hsa-let-7g-3p	HITS-CLIP	21572407
MIRT508030	hsa-miR-6083	HITS-CLIP	21572407
MIRT408867	hsa-miR-1277-5p	HITS-CLIP	21572407
MIRT609048	hsa-miR-8485	HITS-CLIP	22927820
MIRT609047	hsa-miR-1324	HITS-CLIP	22927820
MIRT609046	hsa-miR-3942-3p	HITS-CLIP	22927820
MIRT508031	hsa-miR-5011-5p	HITS-CLIP	23313552
MIRT543065	hsa-miR-656-3p	HITS-CLIP	23313552
MIRT508029	hsa-miR-190a-3p	HITS-CLIP	23313552
MIRT508030	hsa-miR-6083	HITS-CLIP	23313552
MIRT408867	hsa-miR-1277-5p	HITS-CLIP	23313552
MIRT609048	hsa-miR-8485	HITS-CLIP	23313552
MIRT609048	hsa-miR-8485	HITS-CLIP	23313552
MIRT609048	hsa-miR-8485	HITS-CLIP	23824327
MIRT609047	hsa-miR-1324	HITS-CLIP	23824327
MIRT609046	hsa-miR-3942-3p	HITS-CLIP	23824327
MIRT609048	hsa-miR-8485	HITS-CLIP	23824327
MIRT609047	hsa-miR-1324	HITS-CLIP	23824327
MIRT609046	hsa-miR-3942-3p	HITS-CLIP	23824327
MIRT609047	hsa-miR-1324	HITS-CLIP	23824327
MIRT609046	hsa-miR-3942-3p	HITS-CLIP	23824327
MIRT660375	hsa-miR-3145-5p	HITS-CLIP	23824327
MIRT660374	hsa-miR-5695	HITS-CLIP	23824327
MIRT660373	hsa-miR-4434	HITS-CLIP	23824327
MIRT660372	hsa-miR-4516	HITS-CLIP	23824327
MIRT660371	hsa-miR-5703	HITS-CLIP	23824327
MIRT660370	hsa-miR-4531	HITS-CLIP	23824327
MIRT660369	hsa-miR-1270	HITS-CLIP	23824327
MIRT660368	hsa-miR-620	HITS-CLIP	23824327
MIRT609047	hsa-miR-1324	HITS-CLIP	23824327
MIRT609046	hsa-miR-3942-3p	HITS-CLIP	23824327
MIRT660367	hsa-miR-6832-3p	HITS-CLIP	23824327
MIRT660366	hsa-miR-4287	HITS-CLIP	23824327
MIRT660365	hsa-miR-4685-3p	HITS-CLIP	23824327
MIRT660364	hsa-miR-15b-3p	HITS-CLIP	23824327
MIRT660363	hsa-miR-2355-5p	HITS-CLIP	23824327
MIRT660362	hsa-miR-204-5p	HITS-CLIP	23824327
MIRT660361	hsa-miR-211-5p	HITS-CLIP	23824327
MIRT660360	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT624601	hsa-miR-4418	HITS-CLIP	23824327
MIRT624600	hsa-miR-509-3-5p	HITS-CLIP	23824327
MIRT624599	hsa-miR-509-5p	HITS-CLIP	23824327
MIRT624598	hsa-miR-217	HITS-CLIP	23824327
MIRT624597	hsa-miR-6807-3p	HITS-CLIP	23824327
MIRT624596	hsa-miR-6076	HITS-CLIP	23824327
MIRT624595	hsa-miR-6797-3p	HITS-CLIP	23824327
MIRT609048	hsa-miR-8485	HITS-CLIP	24906430
MIRT609047	hsa-miR-1324	HITS-CLIP	24906430
MIRT609046	hsa-miR-3942-3p	HITS-CLIP	24906430
MIRT508031	hsa-miR-5011-5p	PAR-CLIP	20371350
MIRT508029	hsa-miR-190a-3p	PAR-CLIP	20371350
MIRT508030	hsa-miR-6083	PAR-CLIP	20371350
MIRT408867	hsa-miR-1277-5p	PAR-CLIP	20371350
MIRT543066	hsa-miR-410-3p	PAR-CLIP	21572407
MIRT508031	hsa-miR-5011-5p	PAR-CLIP	21572407
MIRT543065	hsa-miR-656-3p	PAR-CLIP	21572407
MIRT508029	hsa-miR-190a-3p	PAR-CLIP	21572407
MIRT508030	hsa-miR-6083	PAR-CLIP	21572407
MIRT408867	hsa-miR-1277-5p	PAR-CLIP	21572407
MIRT508031	hsa-miR-5011-5p	PAR-CLIP	23446348
MIRT508029	hsa-miR-190a-3p	PAR-CLIP	23446348
MIRT508030	hsa-miR-6083	PAR-CLIP	23446348
MIRT408867	hsa-miR-1277-5p	PAR-CLIP	23446348
MIRT609048	hsa-miR-8485	HITS-CLIP	27418678
MIRT734221	hsa-miR-150-5p	Flow cytometry, Luciferase reporter assay, qRT-PCR, Western blotting	33447883
MIRT609048	hsa-miR-8485	HITS-CLIP	19536157
MIRT719708	hsa-miR-6840-3p	HITS-CLIP	19536157
MIRT719707	hsa-miR-1915-3p	HITS-CLIP	19536157
MIRT719706	hsa-miR-6764-5p	HITS-CLIP	19536157
MIRT719705	hsa-miR-4726-3p	HITS-CLIP	19536157
MIRT318819	hsa-miR-8064	HITS-CLIP	19536157
MIRT719704	hsa-miR-507	HITS-CLIP	19536157
MIRT719703	hsa-miR-557	HITS-CLIP	19536157
MIRT609048	hsa-miR-8485	HITS-CLIP	19536157
MIRT719708	hsa-miR-6840-3p	HITS-CLIP	19536157
MIRT719707	hsa-miR-1915-3p	HITS-CLIP	19536157
MIRT719706	hsa-miR-6764-5p	HITS-CLIP	19536157
MIRT719705	hsa-miR-4726-3p	HITS-CLIP	19536157
MIRT318819	hsa-miR-8064	HITS-CLIP	19536157
MIRT719704	hsa-miR-507	HITS-CLIP	19536157
MIRT719703	hsa-miR-557	HITS-CLIP	19536157
MIRT708188	hsa-miR-4517	HITS-CLIP	21572407
MIRT708187	hsa-miR-5583-3p	HITS-CLIP	21572407
MIRT708186	hsa-miR-369-3p	HITS-CLIP	21572407
MIRT708185	hsa-miR-5692b	HITS-CLIP	21572407
MIRT708184	hsa-miR-5692c	HITS-CLIP	21572407
MIRT543066	hsa-miR-410-3p	HITS-CLIP	21572407
MIRT508031	hsa-miR-5011-5p	HITS-CLIP	21572407
MIRT543065	hsa-miR-656-3p	HITS-CLIP	21572407
MIRT708183	hsa-miR-3201	HITS-CLIP	21572407
MIRT708182	hsa-miR-4791	HITS-CLIP	21572407
MIRT708181	hsa-miR-374a-5p	HITS-CLIP	21572407
MIRT708180	hsa-miR-374b-5p	HITS-CLIP	21572407
MIRT508029	hsa-miR-190a-3p	HITS-CLIP	21572407
MIRT708179	hsa-let-7a-2-3p	HITS-CLIP	21572407
MIRT708178	hsa-let-7g-3p	HITS-CLIP	21572407
MIRT508030	hsa-miR-6083	HITS-CLIP	21572407
MIRT408867	hsa-miR-1277-5p	HITS-CLIP	21572407
MIRT609048	hsa-miR-8485	HITS-CLIP	22927820
MIRT609047	hsa-miR-1324	HITS-CLIP	22927820
MIRT609046	hsa-miR-3942-3p	HITS-CLIP	22927820
MIRT508031	hsa-miR-5011-5p	HITS-CLIP	23313552
MIRT543065	hsa-miR-656-3p	HITS-CLIP	23313552
MIRT508029	hsa-miR-190a-3p	HITS-CLIP	23313552
MIRT508030	hsa-miR-6083	HITS-CLIP	23313552
MIRT408867	hsa-miR-1277-5p	HITS-CLIP	23313552
MIRT609048	hsa-miR-8485	HITS-CLIP	23313552
MIRT609048	hsa-miR-8485	HITS-CLIP	23313552
MIRT609048	hsa-miR-8485	HITS-CLIP	23824327
MIRT609047	hsa-miR-1324	HITS-CLIP	23824327
MIRT609046	hsa-miR-3942-3p	HITS-CLIP	23824327
MIRT609048	hsa-miR-8485	HITS-CLIP	23824327
MIRT609047	hsa-miR-1324	HITS-CLIP	23824327
MIRT609046	hsa-miR-3942-3p	HITS-CLIP	23824327
MIRT609047	hsa-miR-1324	HITS-CLIP	23824327
MIRT609046	hsa-miR-3942-3p	HITS-CLIP	23824327
MIRT660375	hsa-miR-3145-5p	HITS-CLIP	23824327
MIRT660374	hsa-miR-5695	HITS-CLIP	23824327
MIRT660373	hsa-miR-4434	HITS-CLIP	23824327
MIRT660372	hsa-miR-4516	HITS-CLIP	23824327
MIRT660371	hsa-miR-5703	HITS-CLIP	23824327
MIRT660370	hsa-miR-4531	HITS-CLIP	23824327
MIRT660369	hsa-miR-1270	HITS-CLIP	23824327
MIRT660368	hsa-miR-620	HITS-CLIP	23824327
MIRT609047	hsa-miR-1324	HITS-CLIP	23824327
MIRT609046	hsa-miR-3942-3p	HITS-CLIP	23824327
MIRT660367	hsa-miR-6832-3p	HITS-CLIP	23824327
MIRT660366	hsa-miR-4287	HITS-CLIP	23824327
MIRT660365	hsa-miR-4685-3p	HITS-CLIP	23824327
MIRT660364	hsa-miR-15b-3p	HITS-CLIP	23824327
MIRT660363	hsa-miR-2355-5p	HITS-CLIP	23824327
MIRT660362	hsa-miR-204-5p	HITS-CLIP	23824327
MIRT660361	hsa-miR-211-5p	HITS-CLIP	23824327
MIRT660360	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT624601	hsa-miR-4418	HITS-CLIP	23824327
MIRT624600	hsa-miR-509-3-5p	HITS-CLIP	23824327
MIRT624599	hsa-miR-509-5p	HITS-CLIP	23824327
MIRT624598	hsa-miR-217	HITS-CLIP	23824327
MIRT624597	hsa-miR-6807-3p	HITS-CLIP	23824327
MIRT624596	hsa-miR-6076	HITS-CLIP	23824327
MIRT624595	hsa-miR-6797-3p	HITS-CLIP	23824327
MIRT508031	hsa-miR-5011-5p	PAR-CLIP	20371350
MIRT508029	hsa-miR-190a-3p	PAR-CLIP	20371350
MIRT508030	hsa-miR-6083	PAR-CLIP	20371350
MIRT408867	hsa-miR-1277-5p	PAR-CLIP	20371350
MIRT543066	hsa-miR-410-3p	PAR-CLIP	21572407
MIRT508031	hsa-miR-5011-5p	PAR-CLIP	21572407
MIRT543065	hsa-miR-656-3p	PAR-CLIP	21572407
MIRT508029	hsa-miR-190a-3p	PAR-CLIP	21572407
MIRT508030	hsa-miR-6083	PAR-CLIP	21572407
MIRT408867	hsa-miR-1277-5p	PAR-CLIP	21572407
MIRT508031	hsa-miR-5011-5p	PAR-CLIP	23446348
MIRT508029	hsa-miR-190a-3p	PAR-CLIP	23446348
MIRT508030	hsa-miR-6083	PAR-CLIP	23446348
MIRT408867	hsa-miR-1277-5p	PAR-CLIP	23446348
MIRT814330	hsa-miR-103a	CLIP-seq
MIRT814331	hsa-miR-107	CLIP-seq
MIRT814332	hsa-miR-1236	CLIP-seq
MIRT814333	hsa-miR-1256	CLIP-seq
MIRT814334	hsa-miR-1301	CLIP-seq
MIRT814335	hsa-miR-183	CLIP-seq
MIRT814336	hsa-miR-203	CLIP-seq
MIRT814337	hsa-miR-3128	CLIP-seq
MIRT814338	hsa-miR-3171	CLIP-seq
MIRT814339	hsa-miR-3199	CLIP-seq
MIRT814340	hsa-miR-3591-5p	CLIP-seq
MIRT814341	hsa-miR-3622a-3p	CLIP-seq
MIRT814342	hsa-miR-3622b-3p	CLIP-seq
MIRT814343	hsa-miR-3646	CLIP-seq
MIRT814344	hsa-miR-3668	CLIP-seq
MIRT814345	hsa-miR-3919	CLIP-seq
MIRT814346	hsa-miR-4251	CLIP-seq
MIRT814347	hsa-miR-4252	CLIP-seq
MIRT814348	hsa-miR-4328	CLIP-seq
MIRT814349	hsa-miR-4436a	CLIP-seq
MIRT814350	hsa-miR-4473	CLIP-seq
MIRT814351	hsa-miR-4504	CLIP-seq
MIRT814352	hsa-miR-450b-5p	CLIP-seq
MIRT814353	hsa-miR-451	CLIP-seq
MIRT814354	hsa-miR-451b	CLIP-seq
MIRT814355	hsa-miR-4640-5p	CLIP-seq
MIRT814356	hsa-miR-4671-3p	CLIP-seq
MIRT814357	hsa-miR-4712-3p	CLIP-seq
MIRT814358	hsa-miR-4719	CLIP-seq
MIRT814359	hsa-miR-4720-5p	CLIP-seq
MIRT814360	hsa-miR-4726-5p	CLIP-seq
MIRT814361	hsa-miR-4790-3p	CLIP-seq
MIRT814362	hsa-miR-4797-5p	CLIP-seq
MIRT814363	hsa-miR-4799-3p	CLIP-seq
MIRT814364	hsa-miR-485-3p	CLIP-seq
MIRT814365	hsa-miR-495	CLIP-seq
MIRT814366	hsa-miR-5047	CLIP-seq
MIRT814367	hsa-miR-512-3p	CLIP-seq
MIRT814368	hsa-miR-520f	CLIP-seq
MIRT814369	hsa-miR-539	CLIP-seq
MIRT814370	hsa-miR-542-3p	CLIP-seq
MIRT814371	hsa-miR-548ag	CLIP-seq
MIRT814372	hsa-miR-548ai	CLIP-seq
MIRT814373	hsa-miR-548c-3p	CLIP-seq
MIRT814374	hsa-miR-653	CLIP-seq
MIRT814375	hsa-miR-758	CLIP-seq
MIRT814376	hsa-miR-130a	CLIP-seq
MIRT814377	hsa-miR-130b	CLIP-seq
MIRT814378	hsa-miR-1323	CLIP-seq
MIRT814379	hsa-miR-142-3p	CLIP-seq
MIRT814380	hsa-miR-148a	CLIP-seq
MIRT814381	hsa-miR-148b	CLIP-seq
MIRT814382	hsa-miR-152	CLIP-seq
MIRT814383	hsa-miR-204	CLIP-seq
MIRT814384	hsa-miR-211	CLIP-seq
MIRT814385	hsa-miR-2117	CLIP-seq
MIRT814386	hsa-miR-301a	CLIP-seq
MIRT814387	hsa-miR-301b	CLIP-seq
MIRT814388	hsa-miR-3666	CLIP-seq
MIRT814389	hsa-miR-3688-5p	CLIP-seq
MIRT814346	hsa-miR-4251	CLIP-seq
MIRT814347	hsa-miR-4252	CLIP-seq
MIRT814390	hsa-miR-4273	CLIP-seq
MIRT814391	hsa-miR-4295	CLIP-seq
MIRT814392	hsa-miR-4470	CLIP-seq
MIRT814351	hsa-miR-4504	CLIP-seq
MIRT814393	hsa-miR-454	CLIP-seq
MIRT814355	hsa-miR-4640-5p	CLIP-seq
MIRT814394	hsa-miR-4659a-3p	CLIP-seq
MIRT814395	hsa-miR-4659b-3p	CLIP-seq
MIRT814396	hsa-miR-4717-3p	CLIP-seq
MIRT814360	hsa-miR-4726-5p	CLIP-seq
MIRT814397	hsa-miR-4778-3p	CLIP-seq
MIRT814398	hsa-miR-499-3p	CLIP-seq
MIRT814399	hsa-miR-499a-3p	CLIP-seq
MIRT814369	hsa-miR-539	CLIP-seq
MIRT814370	hsa-miR-542-3p	CLIP-seq
MIRT814400	hsa-miR-548o	CLIP-seq
MIRT814401	hsa-miR-648	CLIP-seq
MIRT814375	hsa-miR-758	CLIP-seq
MIRT814402	hsa-miR-767-5p	CLIP-seq
MIRT814332	hsa-miR-1236	CLIP-seq
MIRT1940787	hsa-miR-1265	CLIP-seq
MIRT1940788	hsa-miR-3159	CLIP-seq
MIRT814345	hsa-miR-3919	CLIP-seq
MIRT814348	hsa-miR-4328	CLIP-seq
MIRT1940789	hsa-miR-4438	CLIP-seq
MIRT814365	hsa-miR-495	CLIP-seq
MIRT2179786	hsa-miR-150	CLIP-seq
MIRT2179787	hsa-miR-190	CLIP-seq
MIRT2179788	hsa-miR-190b	CLIP-seq
MIRT2179789	hsa-miR-3123	CLIP-seq
MIRT2179790	hsa-miR-3163	CLIP-seq
MIRT2179791	hsa-miR-4691-5p	CLIP-seq
MIRT2179792	hsa-miR-486-3p	CLIP-seq
MIRT2179793	hsa-miR-579	CLIP-seq
MIRT2179794	hsa-miR-1206	CLIP-seq
MIRT2179795	hsa-miR-1915	CLIP-seq
MIRT2179796	hsa-miR-4496	CLIP-seq
MIRT2179793	hsa-miR-579	CLIP-seq
MIRT814369	hsa-miR-539	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IEA
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	NAS	27052415
GO:0000785	Component	Chromatin	ISA
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IEA
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	IBA
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	ISA
GO:0001227	Function	DNA-binding transcription repressor activity, RNA polymerase II-specific	IEA
GO:0003677	Function	DNA binding	IEA
GO:0003700	Function	DNA-binding transcription factor activity	IEA
GO:0005515	Function	Protein binding	IPI	23661758, 28514442, 32296183, 33961781
GO:0005634	Component	Nucleus	IEA
GO:0005634	Component	Nucleus	NAS	23661758, 27052415
GO:0005654	Component	Nucleoplasm	IDA
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	IDA
GO:0006355	Process	Regulation of DNA-templated transcription	IEA
GO:0006355	Process	Regulation of DNA-templated transcription	IEA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IBA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	NAS	23661758
GO:0051170	Process	Import into nucleus	IEA
GO:0051170	Process	Import into nucleus	ISS
GO:0090575	Component	RNA polymerase II transcription regulator complex	IPI	22194330, 23661758
GO:0090575	Component	RNA polymerase II transcription regulator complex	ISS
GO:0090721	Process	Primary adaptive immune response involving T cells and B cells	IMP	28530713
GO:1990837	Function	Sequence-specific double-stranded DNA binding	IDA	28473536

Other IDs

• MIM: 605394
• HGNC: 14078
• e!Ensembl: ENSG00000112182

Protein

• UniProt ID: Q9BYV9
• Protein name: Transcription regulator protein BACH2 (BTB and CNC homolog 2)
• Protein function: Transcriptional regulator that acts as a repressor or activator (By similarity). Binds to Maf recognition elements (MARE) (By similarity). Plays an important role in coordinating transcription activation and repression by MAFK (By similarity). I
• PDB: 3OHU, 3OHV
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00651	BTB	27 → 133	BTB/POZ domain	Domain
  PF03131	bZIP_Maf	617 → 709	bZIP Maf transcription factor	Coiled-coil

• Tissue specificity: TISSUE SPECIFICITY: B-cell specific.
• Sequence:

  MSVDEKPDSPMYVYESTVHCTNILLGLNDQRKKDILCDVTLIVERKEFRAHRAVLAACSE
  YFWQALVGQTKNDLVVSLPEEVTARGFGPLLQFAYTAKLLLSRENIREVIRCAEFLRMHN
  LEDSCFSFLQTQLLNSEDGLFVCRKDAACQRPHEDCENSAGEEEDEEEETMDSETAKMAC
  PRDQMLPEPISFEAAAIPVAEKEEALLPEPDVPTDTKESSEKDALTQYPRYKKYQLACTK
  NVYNASSHSTSGFASTFREDNSSNSLKPGLARGQIKSEPPSEENEEESITLCLSGDEPDA
  KDRAGDVEMDRKQPSPAPTPTAPAGAACLERSRSVASPSCLRSLFSITKSVELSGLPSTS
  QQHFARSPACPFDKGITQGDLKTDYTPFTGNYGQPHVGQKEVSNFTMGSPLRGPGLEALC
  KQEGELDRRSVIFSSSACDQVSTSVHSYSGVSSLDKDLSEPVPKGLWVGAGQSLPSSQAY
  SHGGLMADHLPGRMRPNTSCPVPIKVCPRSPPLETRTRTSSSCSSYSYAEDGSGGSPCSL
  PLCEFSSSPCSQGARFLATEHQEPGLMGDGMYNQVRPQIKCEQSYGTNSSDESGSFSEAD
  SESCPVQDRGQEVKLPFPVDQITDLPRNDFQMMIKMHKLTSEQLEFIHDVRRRSKNRIAA
  QRCRKRKLDCIQNLECEIRKLVCEKEKLLSERNQLKACMGELLDNFSCLSQEVCRDIQSP
  EQIQALHRYCPVLRPMDLPTASSINPAPLGAEQNIAASQCAVGENVPCCLEPGAAPPGPP
  WAPSNTSENCTSGRRLEGTDPGTFSERGPPLEPRSQTVTVDFCQEMTDKCTTDEQPRKDY
  T

• Sequence length: 841

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
Immunodeficiency 60	Pathogenic	rs1562364898	RCV000767852	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ANKYLOSING SPONDYLITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ASTHMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATOPIC ASTHMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATOPIC ECZEMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOIMMUNE DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOIMMUNE THYROID DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autosomal recessive congenital ichthyosis	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BACH2-related disorder	Likely benign; Benign; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BASAL CELL CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CELIAC DISEASE	—	CTD, Disgenet, GWAS catalog CTD, Disgenet, GWAS catalog CTD, Disgenet, GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CENTRAL NERVOUS SYSTEM NON-HODGKIN LYMPHOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHILDHOOD ONSET ASTHMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHRONIC OBSTRUCTIVE PULMONARY DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CILIARY DYSKINESIA, PRIMARY, 3	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CROHN DISEASE	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CROHN'S DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CROHNS DISEASE OF LARGE BOWEL	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CUTANEOUS MELANOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CUTANEOUS SQUAMOUS CELL CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETES MELLITUS, INSULIN-DEPENDENT	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETES MELLITUS, TYPE 1	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GRAVES DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HASHIMOTO'S THYROIDITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTHYROIDISM	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPOTHYROIDISM	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
IMMUNODEFICIENCY 60 AND AUTOIMMUNITY	—	Disgenet, HPO Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INFLAMMATORY BOWEL DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
KERATINOCYTE CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LATENT AUTOIMMUNE DIABETES IN ADULTS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LEUKEMIA, MYELOID, ACUTE	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MULTIPLE SCLEROSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NASAL CAVITY POLYP	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NON-MELANOMA SKIN CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NON-SMALL CELL LUNG CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OBESITY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Primary ciliary dyskinesia 3	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PSORIASIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RESPIRATORY SYSTEM DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RHEUMATOID ARTHRITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCLEROSING CHOLANGITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SEASONAL ALLERGIC RHINITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SKIN CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SKIN DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SKIN NEOPLASM	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SQUAMOUS CELL CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SQUAMOUS CELL LUNG CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SYSTEMIC LUPUS ERYTHEMATOSUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
THYROID DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TREATMENT-RESISTANT HYPERTENSION	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 1 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ULCERATIVE COLITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VITILIGO	—	CTD, Disgenet, GWAS catalog CTD, Disgenet, GWAS catalog CTD, Disgenet, GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Acute lymphocytic leukemia	Lymphocytic Leukemia	BEFREE	28030830		★☆☆☆☆ Found in Text Mining only
Acute Myeloid Leukemia (AML-M2)	Leukemia	CTD_human_DG	21441929		★☆☆☆☆ Found in Text Mining only
Acute Myeloid Leukemia, M1	Myeloid Leukemia	CTD_human_DG	21441929		★☆☆☆☆ Found in Text Mining only
Addison Disease	Addison`s Disease	BEFREE	27807919		★☆☆☆☆ Found in Text Mining only
Adult Acute Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	28030830		★☆☆☆☆ Found in Text Mining only
Adult Diffuse Large B-Cell Lymphoma	B-cell Lymphoma	BEFREE	16258099, 23865571, 24450488		★☆☆☆☆ Found in Text Mining only
Allergic rhinitis (disorder)	Allergic rhinitis	GWASCAT_DG	30013184		★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	38002954	Associate	★☆☆☆☆ Found in Text Mining only
Anemia	Anemia	BEFREE	30250186		★☆☆☆☆ Found in Text Mining only
Ankylosing spondylitis	Ankylosing Spondylitis	GWASCAT_DG	23749187, 26974007		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Asthma	Asthma	GWASDB_DG	21150878, 21907864		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Asthma	Asthma	BEFREE	21907864, 23728300		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Asthma	Asthma	Pubtator	21907864	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Asthma	Asthma	GWASCAT_DG	27182965, 29273806, 30552067, 30929738, 31619474		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1	Autoimmune Diseases	GWASCAT_DG	30595370		★☆☆☆☆ Found in Text Mining only
AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 2	Autoimmune Diseases	GWASCAT_DG	30595370		★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune Diseases	BEFREE	18840781, 24346624, 24858026, 27052415, 27807919, 28530713, 30402962, 31552021		★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune Diseases	GWASDB_DG	21383967		★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune disease	Pubtator	27680876, 28530713, 33903979, 33966174	Associate	★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune Diseases	GWASCAT_DG	30595370		★☆☆☆☆ Found in Text Mining only
Autoimmune thyroiditis	Autoimmune Thyroiditis	GWASCAT_DG	22922229		★☆☆☆☆ Found in Text Mining only
B-Cell Lymphomas	B-Cell Lymphoma	BEFREE	16258099, 19159451, 21319257, 23865571, 28256087		★☆☆☆☆ Found in Text Mining only
Basal Cell Cancer	Basal Cell Neoplasm	GWASCAT_DG	31174203		★☆☆☆☆ Found in Text Mining only
Basal cell carcinoma	Carcinoma	GWASCAT_DG	31174203		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Basal Cell Neoplasm	Basal Cell Neoplasm	GWASCAT_DG	31174203		★☆☆☆☆ Found in Text Mining only
Behcet Syndrome	Behcet Syndrome	BEFREE	25873652		★☆☆☆☆ Found in Text Mining only
Blast Phase	Blast phase chronic myelogenous leukemia	BEFREE	11746976, 22858985		★☆☆☆☆ Found in Text Mining only
Brittle diabetes	Brittle diabetes mellitus	CTD_human_DG	18978792		★☆☆☆☆ Found in Text Mining only
Bronchiectasis	Bronchiectasis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Burkitt Lymphoma	Burkitt`s Lymphoma	BEFREE	16258099		★☆☆☆☆ Found in Text Mining only
Burkitt Lymphoma	Burkitt lymphoma	Pubtator	37639483	Associate	★☆☆☆☆ Found in Text Mining only
Celiac Disease	Celiac disease	CTD_human_DG	20190752		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Celiac Disease	Celiac disease	GWASCAT_DG	20190752, 22057235, 24999842, 26546613		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Celiac Disease	Celiac disease	GWASDB_DG	20190752, 22057235, 23143596, 24999842		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Celiac Disease	Celiac disease	Pubtator	20190752, 33966174	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Celiac Disease	Celiac disease	BEFREE	26444573, 30402962		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Childhood Acute Lymphoblastic Leukemia	Lymphoblastic Leukemia	BEFREE	28030830		★☆☆☆☆ Found in Text Mining only
Childhood asthma	Asthma	GWASCAT_DG	30929738		★☆☆☆☆ Found in Text Mining only
Cholangitis, Sclerosing	Cholangitis	GWASCAT_DG	26974007		★☆☆☆☆ Found in Text Mining only
Chronic Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	17252022		★☆☆☆☆ Found in Text Mining only
Colitis	Colitis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Colitis Ulcerative	Ulcerative colitis	Pubtator	22543157, 29991969, 32908909	Associate	★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic neoplasm	Pubtator	39333335	Associate	★☆☆☆☆ Found in Text Mining only
Coronary Arteriosclerosis	Coronary Arteriosclerosis	BEFREE	31501353		★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	BEFREE	31501353		★☆☆☆☆ Found in Text Mining only
Coronary Disease	Coronary artery disease	Pubtator	31501353, 36180886	Associate	★☆☆☆☆ Found in Text Mining only
Coronary heart disease	Coronary Heart Disease	BEFREE	31501353		★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn Disease	GWASCAT_DG	21102463, 26192919, 26974007, 28067908		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Crohn Disease	Crohn Disease	GWASDB_DG	21102463		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Crohn Disease	Crohn Disease	CTD_human_DG	21102463		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Crohn Disease	Crohn Disease	BEFREE	21536720, 23728300, 29452228, 30397350		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Crohn Disease	Crohn disease	Pubtator	29991969	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Crohn`s disease of large bowel	Crohn`s Disease Of Large Bowel	CTD_human_DG	21102463		★☆☆☆☆ Found in Text Mining only
Crohn`s disease of the ileum	Crohn`s Disease Of The Ileum	CTD_human_DG	21102463		★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	24608439, 30970177		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	24608439, 30970177		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes mellitus	Pubtator	34907913	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 1	Diabetes mellitus, type 1	Pubtator	18840781, 21829393, 24595351, 30970177, 32236312, 33966174, 34127860, 37289818	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	34907912, 34907913	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	GWASCAT_DG	18840781, 18978792, 19430480, 21829393, 25751624		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	GWASDB_DG	18840781, 18978792, 19430480, 21980299		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	CTD_human_DG	18978792		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	BEFREE	23728300, 24608439, 26782299		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetes Mellitus, Ketosis-Prone	Diabetes Mellitus	CTD_human_DG	18978792		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	21536720		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Sudden-Onset	Diabetes Mellitus	CTD_human_DG	18978792		★☆☆☆☆ Found in Text Mining only
Diabetes, Autoimmune	Autoimmune Diabetes	CTD_human_DG	18978792		★☆☆☆☆ Found in Text Mining only
Diffuse Large B-Cell Lymphoma	Diffuse Lymphoma	BEFREE	16258099, 23865571, 24450488, 28256087		★☆☆☆☆ Found in Text Mining only
Dysgammaglobulinemia	Dysfibrinogenemia	Pubtator	28530713	Associate	★☆☆☆☆ Found in Text Mining only
Eczema	Eczema	GWASCAT_DG	30595370		★☆☆☆☆ Found in Text Mining only
Endocrine System Diseases	Endocrine system disease	Pubtator	33966174	Associate	★☆☆☆☆ Found in Text Mining only
Graves Disease	Graves disease	Pubtator	21829393, 33966174	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Graves Disease	Graves Disease	GWASCAT_DG	22922229		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Graves Disease	Graves Disease	BEFREE	24346624, 24586183		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hashimoto Disease	Hashimoto Disease	GWASCAT_DG	22922229		★☆☆☆☆ Found in Text Mining only
Hashimoto Disease	Hashimoto disease	Pubtator	29527211	Associate	★☆☆☆☆ Found in Text Mining only
Hematologic Neoplasms	Hematologic neoplasm	Pubtator	28256087	Associate	★☆☆☆☆ Found in Text Mining only
Hematopoietic Neoplasms	Hematopoietic Neoplasms	BEFREE	28256087		★☆☆☆☆ Found in Text Mining only
Hyperthyroidism	Hyperthyroidism	BEFREE	24586183		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypogammaglobulinemia	Hypogammaglobulinemia	GENOMICS_ENGLAND_DG	28530713		★☆☆☆☆ Found in Text Mining only
Hypogammaglobulinemia	Hypogammaglobulinemia	BEFREE	31486986		★☆☆☆☆ Found in Text Mining only
Hypothyroidism	Hypothyroidism	GWASCAT_DG	27182965, 30595370		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
IIeocolitis	Ileocolitis	CTD_human_DG	21102463		★☆☆☆☆ Found in Text Mining only
Immune System Diseases	Immune System Diseases	GWASDB_DG	21383967		★☆☆☆☆ Found in Text Mining only
Immune System Diseases	Immune system disease	Pubtator	35687490	Associate	★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory bowel disease	Pubtator	22543157, 29991969, 35018451	Associate	★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory Bowel Disease	GWASDB_DG	23128233		★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory Bowel Disease	GWASCAT_DG	23128233, 26192919, 28067908		★☆☆☆☆ Found in Text Mining only
Latent Autoimmune Diabetes in Adults	Autoimmune Diabetes	GWASCAT_DG	30254083		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Leukemia	Leukemia	Pubtator	17018862, 28030830	Associate	★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	BEFREE	19159451, 21319257		★☆☆☆☆ Found in Text Mining only
Leukemia	Leukemia	Pubtator	30654767	Inhibit	★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	CTD_human_DG	21441929		★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus	Lupus Erythematosus	BEFREE	31819031		★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus Systemic	Systemic lupus erythematosus	Pubtator	26200652, 31808546, 36284352, 36781170	Associate	★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus Systemic	Systemic lupus erythematosus	Pubtator	33249782	Inhibit	★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Discoid	Lupus Erythematosus	BEFREE	31819031		★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Systemic	Lupus Erythematosus	BEFREE	26200652, 29501569, 31552021, 31808546, 31819031		★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Systemic	Lupus Erythematosus	GWASCAT_DG	27399966		★☆☆☆☆ Found in Text Mining only
Lupus Nephritis	Lupus nephritis	Pubtator	33013825	Associate	★☆☆☆☆ Found in Text Mining only
Lupus Vulgaris	Lupus Vulgaris	BEFREE	31819031		★☆☆☆☆ Found in Text Mining only
Lymphoid leukemia	Lymphoid leukemia	BEFREE	17044046		★☆☆☆☆ Found in Text Mining only
Lymphoid leukemia	Lymphoid leukemia	LHGDN	17044046		★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	BEFREE	21412927, 26522720		★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	Pubtator	37801226	Associate	★☆☆☆☆ Found in Text Mining only
Lymphoma Follicular	Lymphoma	Pubtator	22899287	Associate	★☆☆☆☆ Found in Text Mining only
Lymphoma, Follicular	Lymphoma	BEFREE	21319257		★☆☆☆☆ Found in Text Mining only
Lymphoma, Non-Hodgkin	Non-Hodgkin lymphoma	BEFREE	11746976, 18929412		★☆☆☆☆ Found in Text Mining only
Lymphoma, Non-Hodgkin, Familial	Lymphoma	BEFREE	11746976, 18929412		★☆☆☆☆ Found in Text Mining only
Malignant lymphoma, lymphocytic, intermediate differentiation, diffuse	Malignant lymphoma, lymphocytic, intermediate differentiation	BEFREE	23936317, 28592433		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	29216925		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	17044046, 26522720, 28592433		★☆☆☆☆ Found in Text Mining only
Mantle cell lymphoma	Mantle Cell Lymphoma	BEFREE	23936317, 28592433		★☆☆☆☆ Found in Text Mining only
Microscopic Polyangiitis	Microscopic polyangiitis	Pubtator	34888651	Associate	★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	BEFREE	27936757		★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple Sclerosis	GWASCAT_DG	21833088, 24076602		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Multiple Sclerosis	Multiple Sclerosis	GWASDB_DG	21833088, 22190364		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Multiple Sclerosis	Multiple Sclerosis	BEFREE	23728300		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Multiple Sclerosis	Multiple sclerosis	Pubtator	25670004	Inhibit	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Multiple Sclerosis	Multiple sclerosis	Pubtator	29527211	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myeloid Leukemia, Chronic	Myeloid Leukemia	BEFREE	11746976, 17044046, 22858985		★☆☆☆☆ Found in Text Mining only
Nasal Polyps	Nasal polyposis	GWASCAT_DG	30643255		★☆☆☆☆ Found in Text Mining only
Nasopharyngeal Carcinoma	Nasopharyngeal carcinoma	Pubtator	28487475	Associate	★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	11746976, 14982850, 17044046, 19159451, 26522720, 28256087, 28592433, 28924457, 30076957		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	16631738		★☆☆☆☆ Found in Text Mining only
Non-Hodgkin`s lymphoma of central nervous system	Non-Hodgkin`s Lymphoma Of Central Nervous System	GWASCAT_DG	31102405		★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	LHGDN	16832351		★☆☆☆☆ Found in Text Mining only
Pancreatitis, Chronic	Pancreatitis	BEFREE	29511557		★☆☆☆☆ Found in Text Mining only
Periodontitis	Periodontitis	BEFREE	28123644		★☆☆☆☆ Found in Text Mining only
Precursor Cell Lymphoblastic Leukemia Lymphoma	Lymphoblastic Leukemia	BEFREE	28030830		★☆☆☆☆ Found in Text Mining only
Primary immune deficiency disorder	immunodeficiency	BEFREE	28530713		★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	29216925		★☆☆☆☆ Found in Text Mining only
Psoriasis	Psoriasis	GWASCAT_DG	26974007		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pulmonary Alveolar Proteinosis	Alveolar proteinosis	BEFREE	28216546, 28916727		★☆☆☆☆ Found in Text Mining only
Recurrent otitis media	Otitis media	HPO_DG			★☆☆☆☆ Found in Text Mining only
Regional enteritis	Crohn Disease	CTD_human_DG	21102463		★☆☆☆☆ Found in Text Mining only
Respiratory Tract Diseases	Respiratory Tract Diseases	GWASCAT_DG	30595370		★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	GWASDB_DG	23143596		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Rheumatoid Arthritis	Rheumatoid arthritis	GWASCAT_DG	23143596, 26546613		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	24022229, 24602812, 26939566		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Skin Neoplasms	Skin neoplasm	Pubtator	35018451	Associate	★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	GWASCAT_DG	31174203		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Stomach Neoplasms	Stomach Neoplasms	BEFREE	24858026		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	33316777	Associate	★☆☆☆☆ Found in Text Mining only
Thyroiditis Autoimmune	Thyroiditis	Pubtator	37197658	Associate	★☆☆☆☆ Found in Text Mining only
Ulcerative Colitis	Ulcerative colitis	GWASCAT_DG	26974007		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ulcerative Colitis	Ulcerative colitis	BEFREE	30402962		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uveomeningoencephalitic Syndrome	Uveomeningoencephalitic Syndrome	BEFREE	25873652		★☆☆☆☆ Found in Text Mining only
Vitiligo	Vitiligo	GWASDB_DG	22561518		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Vitiligo	Vitiligo	CTD_human_DG	22561518		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Vitiligo	Vitiligo	GWASCAT_DG	22561518, 27723757		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Waldenstrom Macroglobulinemia	Waldenstrom`s Macroglobulinemia	BEFREE	17252022, 28924457		★☆☆☆☆ Found in Text Mining only