NFKB1 (nuclear factor kappa B subunit 1)

Gene

• Entrez ID: 4790
• Gene name: Nuclear factor kappa B subunit 1
• Gene symbol: NFKB1
• Synonyms (NCBI Gene): CVID12, EBP-1, KBF1, NF-kB, NF-kB1, NF-kappa-B1, NF-kappaB, NF-kappabeta, NFKB-p105, NFKB-p50, NFkappaB
• Chromosome: 4
• Chromosome location: 4q24
• Summary: This gene encodes a 105 kD protein which can undergo cotranslational processing by the 26S proteasome to produce a 50 kD protein. The 105 kD protein is a Rel protein-specific transcription inhibitor and the 50 kD protein is a DNA binding subunit of the NF

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs773694113	->T	Pathogenic, likely-pathogenic	Coding sequence variant, frameshift variant
rs869320688	A>G	Pathogenic	Intron variant
rs869320689	T>C,G	Likely-pathogenic, pathogenic	Splice donor variant
rs869320754	->A	Pathogenic	Frameshift variant, coding sequence variant
rs939459600	C>G,T	Likely-pathogenic	Missense variant, stop gained, coding sequence variant
rs1553934187	C>-	Pathogenic	Intron variant, coding sequence variant, frameshift variant
rs1553934395	G>A	Likely-pathogenic	Splice donor variant
rs1560679469	->A	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1560706306	->A	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1578735709	G>A	Likely-pathogenic	Splice acceptor variant
rs1578735747	G>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1578771120	T>G	Pathogenic	Coding sequence variant, missense variant
rs1578771197	T>A	Pathogenic	Coding sequence variant, missense variant
rs1578771211	C>T	Pathogenic	Coding sequence variant, stop gained
rs1578785260	->A	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1578787945	A>-	Likely-pathogenic	Coding sequence variant, intron variant, frameshift variant
rs1578790573	->A	Likely-pathogenic, pathogenic	Coding sequence variant, frameshift variant
rs1578793298	C>G	Pathogenic	Coding sequence variant, missense variant
rs1578793312	C>T	Likely-pathogenic, pathogenic	Coding sequence variant, stop gained
rs1578795536	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs1578805410	AGAA>-	Pathogenic	Coding sequence variant, frameshift variant
rs1578809017	->AG	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1578809101	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs1578811073	TGCCA>-	Pathogenic	Coding sequence variant, frameshift variant
rs1578811245	GA>-	Pathogenic	Coding sequence variant, stop gained

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT003193	hsa-miR-9-5p	qRT-PCR, Luciferase reporter assay, Western blot	19702828
MIRT004459	hsa-miR-146a-5p	Luciferase reporter assay	18504431
MIRT004530	hsa-miR-146b-5p	Luciferase reporter assay	18504431
MIRT003193	hsa-miR-9-5p	Luciferase reporter assay	19702828
MIRT003193	hsa-miR-9-5p	GFP reporter assay, qRT-PCR, Western blot	20102618
MIRT003193	hsa-miR-9-5p	GFP reporter assay, qRT-PCR, Western blot	20102618
MIRT004459	hsa-miR-146a-5p	qRT-PCR, Western blot	20124483
MIRT004829	hsa-miR-15a-5p	Microarray, qRT-PCR	17260024
MIRT004830	hsa-let-7a-5p	Microarray, qRT-PCR	17260024
MIRT003193	hsa-miR-9-5p	GFP reporter assay, Western blot	22131135
MIRT003193	hsa-miR-9-5p	WM115A	22131135
MIRT003193	hsa-miR-9-5p	GFP reporter assay, Western blot	22131135
MIRT003193	hsa-miR-9-5p	WM115A	22131135
MIRT006528	hsa-miR-16-5p	ChIP-seq	21081469
MIRT006528	hsa-miR-16-5p	ChIP-seq	21081469
MIRT006529	hsa-miR-21-5p	ChIP-seq	21081469
MIRT006529	hsa-miR-21-5p	ChIP-seq	21081469
MIRT003193	hsa-miR-9-5p	GFP reporter assay, Western blot	22131135
MIRT003193	hsa-miR-9-5p	WM115A	22131135
MIRT006528	hsa-miR-16-5p	ChIP-seq	21081469
MIRT006528	hsa-miR-16-5p	ChIP-seq	21081469
MIRT006529	hsa-miR-21-5p	ChIP-seq	21081469
MIRT006529	hsa-miR-21-5p	ChIP-seq	21081469
MIRT006938	mmu-miR-210-3p	Luciferase reporter assay, qRT-PCR, Western blot	22575656
MIRT006938	mmu-miR-210-3p	Luciferase reporter assay, qRT-PCR, Western blot	22575656
MIRT006938	mmu-miR-210-3p	Luciferase reporter assay, qRT-PCR, Western blot	22575656
MIRT021048	hsa-miR-155-5p	Proteomics	21030878
MIRT004459	hsa-miR-146a-5p	Microarray	18660546
MIRT003193	hsa-miR-9-5p	Reporter assay;Western blot	19289835
MIRT030242	hsa-miR-26b-5p	Microarray	19088304
MIRT049105	hsa-miR-92a-3p	CLASH	23622248
MIRT003193	hsa-miR-9-5p	GFP reporter assay, qRT-PCR, Western blot	22825752
MIRT003193	hsa-miR-9-5p	GFP reporter assay, qRT-PCR, Western blot	22825752
MIRT004459	hsa-miR-146a-5p	Luciferase reporter assay, qRT-PCR, Western blot	23706078
MIRT438493	hsa-miR-139-5p	Luciferase reporter assay	24158791
MIRT004459	hsa-miR-146a-5p	Flow, Luciferase reporter assay, qRT-PCR, Western blot	23706078
MIRT438174	hsa-miR-199a-5p	Luciferase reporter assay, qRT-PCR, Western blot	24299514
MIRT438174	hsa-miR-199a-5p	Luciferase reporter assay, qRT-PCR, Western blot	24299514
MIRT438493	hsa-miR-139-5p	Luciferase reporter assay	24158791
MIRT004459	hsa-miR-146a-5p	Flow, Luciferase reporter assay, qRT-PCR, Western blot	23706078
MIRT438174	hsa-miR-199a-5p	Luciferase reporter assay, qRT-PCR, Western blot	24299514
MIRT438174	hsa-miR-199a-5p	Luciferase reporter assay, qRT-PCR, Western blot	24299514
MIRT210911	hsa-miR-508-3p	Luciferase reporter assay, Western blot	26801246
MIRT210911	hsa-miR-508-3p	Luciferase reporter assay, Western blot	26801246
MIRT003193	hsa-miR-9-5p	Luciferase reporter assay, qRT-PCR, Western blot	27603333
MIRT003193	hsa-miR-9-5p	Luciferase reporter assay, qRT-PCR, Western blot	26248136
MIRT003193	hsa-miR-9-5p	Luciferase reporter assay, qRT-PCR, Western blot	26248136
MIRT021048	hsa-miR-155-5p	Immunofluorescence, Immunohistochemistry, Luciferase reporter assay, qRT-PCR, Western blot	26934326
MIRT021048	hsa-miR-155-5p	Immunofluorescence, Immunohistochemistry, Luciferase reporter assay, qRT-PCR, Western blot	26934326
MIRT021048	hsa-miR-155-5p	Immunofluorescence, Immunohistochemistry, Luciferase reporter assay, qRT-PCR, Western blot	26934326
MIRT021048	hsa-miR-155-5p	Immunofluorescence, Immunohistochemistry, Luciferase reporter assay, qRT-PCR, Western blot	26934326
MIRT210911	hsa-miR-508-3p	ChIP-seq, Immunohistochemistry, Luciferase reporter assay, qRT-PCR, Western blot	26801246
MIRT210911	hsa-miR-508-3p	ChIP-seq, Immunohistochemistry, Luciferase reporter assay, qRT-PCR, Western blot	26801246
MIRT004459	hsa-miR-146a-5p	ELISA, Immunoblot, Luciferase reporter assay, qRT-PCR, Western blot	25052989
MIRT004459	hsa-miR-146a-5p	qRT-PCR	31739406
MIRT021048	hsa-miR-155-5p	qRT-PCR	31739406
MIRT736432	hsa-miR-491-3p	qRT-PCR, Flow cytometry	33679688
MIRT737048	hsa-miR-375	Luciferase reporter assay, Western blotting, Immunohistochemistry (IHC), qRT-PCR	31802830
MIRT737048	hsa-miR-375	Luciferase reporter assay, Western blotting, Immunohistochemistry (IHC), qRT-PCR	31802830
MIRT737048	hsa-miR-375	Luciferase reporter assay, Western blotting, Immunohistochemistry (IHC), qRT-PCR	31802830
MIRT755528	hsa-miR-149-3p	Luciferase reporter assay, qRT-PCR	36250208
MIRT755718	hsa-miR-3976	Luciferase reporter assay, Western blotting, qRT-PCR	37427366
MIRT1183404	hsa-miR-1252	CLIP-seq
MIRT1183405	hsa-miR-1273	CLIP-seq
MIRT1183406	hsa-miR-3675-3p	CLIP-seq
MIRT1183407	hsa-miR-4753-3p	CLIP-seq
MIRT1183408	hsa-miR-4755-3p	CLIP-seq
MIRT1183409	hsa-miR-4775	CLIP-seq
MIRT1183410	hsa-miR-1179	CLIP-seq
MIRT1183411	hsa-miR-1207-3p	CLIP-seq
MIRT1183412	hsa-miR-1296	CLIP-seq
MIRT1183413	hsa-miR-15a	CLIP-seq
MIRT1183414	hsa-miR-15b	CLIP-seq
MIRT1183415	hsa-miR-16	CLIP-seq
MIRT1183416	hsa-miR-195	CLIP-seq
MIRT1183417	hsa-miR-2909	CLIP-seq
MIRT1183418	hsa-miR-299-5p	CLIP-seq
MIRT1183419	hsa-miR-3120-5p	CLIP-seq
MIRT1183420	hsa-miR-3128	CLIP-seq
MIRT1183421	hsa-miR-3138	CLIP-seq
MIRT1183422	hsa-miR-3153	CLIP-seq
MIRT1183423	hsa-miR-3158-3p	CLIP-seq
MIRT1183424	hsa-miR-3182	CLIP-seq
MIRT1183425	hsa-miR-338-3p	CLIP-seq
MIRT1183406	hsa-miR-3675-3p	CLIP-seq
MIRT1183426	hsa-miR-424	CLIP-seq
MIRT1183427	hsa-miR-431	CLIP-seq
MIRT1183428	hsa-miR-4446-3p	CLIP-seq
MIRT1183429	hsa-miR-4470	CLIP-seq
MIRT1183430	hsa-miR-4480	CLIP-seq
MIRT1183431	hsa-miR-4522	CLIP-seq
MIRT1183432	hsa-miR-4530	CLIP-seq
MIRT1183433	hsa-miR-4648	CLIP-seq
MIRT1183434	hsa-miR-4654	CLIP-seq
MIRT1183435	hsa-miR-4668-5p	CLIP-seq
MIRT1183436	hsa-miR-4729	CLIP-seq
MIRT1183437	hsa-miR-4752	CLIP-seq
MIRT1183407	hsa-miR-4753-3p	CLIP-seq
MIRT1183438	hsa-miR-4769-5p	CLIP-seq
MIRT1183439	hsa-miR-4786-3p	CLIP-seq
MIRT1183440	hsa-miR-4800-5p	CLIP-seq
MIRT1183441	hsa-miR-497	CLIP-seq
MIRT1183442	hsa-miR-548a-5p	CLIP-seq
MIRT1183443	hsa-miR-548ab	CLIP-seq
MIRT1183444	hsa-miR-548ak	CLIP-seq
MIRT1183445	hsa-miR-548b-5p	CLIP-seq
MIRT1183446	hsa-miR-548c-5p	CLIP-seq
MIRT1183447	hsa-miR-548d-5p	CLIP-seq
MIRT1183448	hsa-miR-548h	CLIP-seq
MIRT1183449	hsa-miR-548i	CLIP-seq
MIRT1183450	hsa-miR-548j	CLIP-seq
MIRT1183451	hsa-miR-548n	CLIP-seq
MIRT1183452	hsa-miR-548t	CLIP-seq
MIRT1183453	hsa-miR-548w	CLIP-seq
MIRT1183454	hsa-miR-548y	CLIP-seq
MIRT1183455	hsa-miR-559	CLIP-seq
MIRT1183456	hsa-miR-581	CLIP-seq
MIRT1183457	hsa-miR-590-3p	CLIP-seq
MIRT1183458	hsa-miR-602	CLIP-seq
MIRT1183459	hsa-miR-640	CLIP-seq
MIRT1183460	hsa-miR-646	CLIP-seq
MIRT1183461	hsa-miR-659	CLIP-seq
MIRT1183462	hsa-miR-671-5p	CLIP-seq
MIRT1183463	hsa-miR-9	CLIP-seq
MIRT2053176	hsa-miR-549	CLIP-seq
MIRT1183459	hsa-miR-640	CLIP-seq
MIRT1183460	hsa-miR-646	CLIP-seq
MIRT2282466	hsa-miR-1322	CLIP-seq
MIRT2282467	hsa-miR-3662	CLIP-seq
MIRT1183404	hsa-miR-1252	CLIP-seq
MIRT2282466	hsa-miR-1322	CLIP-seq
MIRT2282467	hsa-miR-3662	CLIP-seq
MIRT1183411	hsa-miR-1207-3p	CLIP-seq
MIRT1183404	hsa-miR-1252	CLIP-seq
MIRT1183405	hsa-miR-1273	CLIP-seq
MIRT2282466	hsa-miR-1322	CLIP-seq
MIRT1183413	hsa-miR-15a	CLIP-seq
MIRT1183414	hsa-miR-15b	CLIP-seq
MIRT1183415	hsa-miR-16	CLIP-seq
MIRT1183416	hsa-miR-195	CLIP-seq
MIRT2580501	hsa-miR-199b-5p	CLIP-seq
MIRT2580502	hsa-miR-2355-5p	CLIP-seq
MIRT2580503	hsa-miR-2467-3p	CLIP-seq
MIRT2580504	hsa-miR-3120-3p	CLIP-seq
MIRT2580505	hsa-miR-3126-5p	CLIP-seq
MIRT1183420	hsa-miR-3128	CLIP-seq
MIRT2580506	hsa-miR-3157-5p	CLIP-seq
MIRT2580507	hsa-miR-324-5p	CLIP-seq
MIRT1183425	hsa-miR-338-3p	CLIP-seq
MIRT2282467	hsa-miR-3662	CLIP-seq
MIRT1183406	hsa-miR-3675-3p	CLIP-seq
MIRT2580508	hsa-miR-3914	CLIP-seq
MIRT1183426	hsa-miR-424	CLIP-seq
MIRT1183429	hsa-miR-4470	CLIP-seq
MIRT1183432	hsa-miR-4530	CLIP-seq
MIRT2580509	hsa-miR-4676-5p	CLIP-seq
MIRT2580510	hsa-miR-4679	CLIP-seq
MIRT2580511	hsa-miR-4691-3p	CLIP-seq
MIRT2580512	hsa-miR-4698	CLIP-seq
MIRT1183407	hsa-miR-4753-3p	CLIP-seq
MIRT1183408	hsa-miR-4755-3p	CLIP-seq
MIRT1183409	hsa-miR-4775	CLIP-seq
MIRT1183441	hsa-miR-497	CLIP-seq
MIRT2053176	hsa-miR-549	CLIP-seq
MIRT2580513	hsa-miR-572	CLIP-seq
MIRT2580514	hsa-miR-575	CLIP-seq
MIRT1183459	hsa-miR-640	CLIP-seq
MIRT1183460	hsa-miR-646	CLIP-seq
MIRT1183411	hsa-miR-1207-3p	CLIP-seq
MIRT1183413	hsa-miR-15a	CLIP-seq
MIRT1183414	hsa-miR-15b	CLIP-seq
MIRT1183415	hsa-miR-16	CLIP-seq
MIRT1183416	hsa-miR-195	CLIP-seq
MIRT2580501	hsa-miR-199b-5p	CLIP-seq
MIRT2580502	hsa-miR-2355-5p	CLIP-seq
MIRT1183420	hsa-miR-3128	CLIP-seq
MIRT2580506	hsa-miR-3157-5p	CLIP-seq
MIRT2580507	hsa-miR-324-5p	CLIP-seq
MIRT1183425	hsa-miR-338-3p	CLIP-seq
MIRT1183426	hsa-miR-424	CLIP-seq
MIRT1183429	hsa-miR-4470	CLIP-seq
MIRT1183432	hsa-miR-4530	CLIP-seq
MIRT2580509	hsa-miR-4676-5p	CLIP-seq
MIRT2580510	hsa-miR-4679	CLIP-seq
MIRT2580511	hsa-miR-4691-3p	CLIP-seq
MIRT1183441	hsa-miR-497	CLIP-seq
MIRT2053176	hsa-miR-549	CLIP-seq
MIRT2580513	hsa-miR-572	CLIP-seq
MIRT2580514	hsa-miR-575	CLIP-seq
MIRT1183459	hsa-miR-640	CLIP-seq
MIRT1183460	hsa-miR-646	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
APEX1	Activation	17045925
AR	Repression	18386814
BCL3	Repression	11387332
BCL3	Unknown	14573596;7896265
BCL6	Repression	15611242
BTF3	Repression	17312387
EGR1	Unknown	10671503
EP300	Unknown	9560267
ETV3	Repression	18025162
FHL2	Unknown	18752053
FOS	Repression	20188076
GATA3	Unknown	19686049
HDAC1	Unknown	24448807
HDAC9	Repression	15964798
HOXA9	Repression	18068911
HSF1	Unknown	18689673
LYL1	Repression	10023675
NFKB1	Unknown	19469019
NFKBIA	Activation	9500973
NFKBIA	Repression	11278471;18606063;20173029
NFKBIA	Unknown	15713458;17148610
NR1H4	Activation	21364590
NR1I2	Repression	22248096
NR3C1	Repression	17016446
PARP1	Unknown	16026317
PIR	Unknown	14573596
RBPJ	Unknown	14570916
RELA	Activation	20596645
RELA	Unknown	19469019
RUNX1	Unknown	19686049
SP1	Activation	20538607;9151857
SP3	Activation	20538607
SP4	Activation	20538607
SRSF1	Repression	19183244
TAL1	Repression	16778171
TNFAIP3	Repression	19124729
TNFAIP3	Unknown	24039598
TP53	Unknown	15988033
TRIM22	Unknown	21651891
USF1	Unknown	19686049
ZNF382	Repression	20682794

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IGI	24434150
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IMP	19881551
GO:0000165	Process	MAPK cascade	IDA	1833717
GO:0000165	Process	MAPK cascade	IEA
GO:0000785	Component	Chromatin	IC	34721373
GO:0000785	Component	Chromatin	IDA	8413223
GO:0000785	Component	Chromatin	ISA
GO:0000976	Function	Transcription cis-regulatory region binding	IDA	16938301, 17426251, 18718911
GO:0000977	Function	RNA polymerase II transcription regulatory region sequence-specific DNA binding	IDA	7959007
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	IDA	1406630, 23811396
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IEA
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IMP	26801246
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	IDA	17426251
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	IMP	26801246
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	ISA
GO:0001223	Function	Transcription coactivator binding	IPI	23811396
GO:0001227	Function	DNA-binding transcription repressor activity, RNA polymerase II-specific	IDA	24434510
GO:0001228	Function	DNA-binding transcription activator activity, RNA polymerase II-specific	IDA	1406630, 23811396, 34721373
GO:0001228	Function	DNA-binding transcription activator activity, RNA polymerase II-specific	IMP	16938301
GO:0001818	Process	Negative regulation of cytokine production	IEA
GO:0002376	Process	Immune system process	IEA
GO:0003677	Function	DNA binding	IEA
GO:0003682	Function	Chromatin binding	IEA
GO:0003700	Function	DNA-binding transcription factor activity	IDA	8413223, 17426251
GO:0003700	Function	DNA-binding transcription factor activity	IEA
GO:0003712	Function	Transcription coregulator activity	IEA
GO:0005515	Function	Protein binding	IPI	7651415, 8196632, 8246997, 8441377, 9865693, 10023675, 10498867, 11297557, 11526476, 11931769, 12482991, 12832462, 14624448, 14743216, 15169888, 15799966, 16108830, 16306601, 16319921, 17003112, 18045535, 18212740, 19350539, 19358846, 20195357, 20237821, 20547752, 21270162, 21483817
GO:0005576	Component	Extracellular region	TAS
GO:0005634	Component	Nucleus	IDA	11819787, 16938301, 25411248
GO:0005634	Component	Nucleus	IEA
GO:0005634	Component	Nucleus	IGI	23729669
GO:0005634	Component	Nucleus	TAS	1992489
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005667	Component	Transcription regulator complex	IEA
GO:0005737	Component	Cytoplasm	IDA	11819787
GO:0005737	Component	Cytoplasm	IEA
GO:0005737	Component	Cytoplasm	IGI	23729669
GO:0005737	Component	Cytoplasm	ISS
GO:0005739	Component	Mitochondrion	IDA
GO:0005829	Component	Cytosol	IDA
GO:0005829	Component	Cytosol	IEA
GO:0005829	Component	Cytosol	TAS
GO:0006355	Process	Regulation of DNA-templated transcription	IEA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IDA	34721373
GO:0006366	Process	Transcription by RNA polymerase II	TAS	1992489
GO:0006915	Process	Apoptotic process	IEA
GO:0006954	Process	Inflammatory response	IDA	10748004
GO:0006954	Process	Inflammatory response	TAS	1992489
GO:0007165	Process	Signal transduction	IEA
GO:0007249	Process	Canonical NF-kappaB signal transduction	IDA	23811396, 34721373
GO:0007254	Process	JNK cascade	IEA
GO:0010467	Process	Gene expression	IEA
GO:0010468	Process	Regulation of gene expression	IEA
GO:0010557	Process	Positive regulation of macromolecule biosynthetic process	IEA
GO:0010629	Process	Negative regulation of gene expression	IDA	26687115
GO:0010744	Process	Positive regulation of macrophage derived foam cell differentiation	IGI	16938301
GO:0010875	Process	Positive regulation of cholesterol efflux	IGI	16938301
GO:0010884	Process	Positive regulation of lipid storage	IGI	16938301
GO:0010957	Process	Negative regulation of vitamin D biosynthetic process	IDA	15243130
GO:0023019	Process	Signal transduction involved in regulation of gene expression	IDA	34721373
GO:0032695	Process	Negative regulation of interleukin-12 production	IEA
GO:0033209	Process	Tumor necrosis factor-mediated signaling pathway	IMP	20237821
GO:0033256	Component	I-kappaB/NF-kappaB complex	IEA
GO:0033256	Component	I-kappaB/NF-kappaB complex	IGI	16938301
GO:0034774	Component	Secretory granule lumen	TAS
GO:0035525	Component	NF-kappaB p50/p65 complex	IBA
GO:0035525	Component	NF-kappaB p50/p65 complex	IEA
GO:0035580	Component	Specific granule lumen	TAS
GO:0035994	Process	Response to muscle stretch	IEA
GO:0038061	Process	Non-canonical NF-kappaB signal transduction	IDA	8413223
GO:0042802	Function	Identical protein binding	IEA
GO:0042802	Function	Identical protein binding	IPI	12482991, 12832462, 21988832, 25609649
GO:0042805	Function	Actinin binding	IPI	25411248
GO:0043066	Process	Negative regulation of apoptotic process	TAS	10811897
GO:0043565	Function	Sequence-specific DNA binding	IEA
GO:0045892	Process	Negative regulation of DNA-templated transcription	IEA
GO:0045893	Process	Positive regulation of DNA-templated transcription	IDA	17426251
GO:0045893	Process	Positive regulation of DNA-templated transcription	IMP	20018240
GO:0045893	Process	Positive regulation of DNA-templated transcription	NAS	8096091
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IDA	1406630, 23811396
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IEA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IGI	16938301
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IMP	19955433
GO:0050728	Process	Negative regulation of inflammatory response	IDA	16424369
GO:0050728	Process	Negative regulation of inflammatory response	IEA
GO:0050729	Process	Positive regulation of inflammatory response	IDA	16424369
GO:0050853	Process	B cell receptor signaling pathway	IEA
GO:0060056	Process	Mammary gland involution	IEA
GO:0060261	Process	Positive regulation of transcription initiation by RNA polymerase II	IEA
GO:0071222	Process	Cellular response to lipopolysaccharide	IEA
GO:0071222	Process	Cellular response to lipopolysaccharide	IMP	23776175
GO:0071260	Process	Cellular response to mechanical stimulus	IEP	19593445
GO:0071316	Process	Cellular response to nicotine	IMP	22357537
GO:0071345	Process	Cellular response to cytokine stimulus	IEA
GO:0071354	Process	Cellular response to interleukin-6	IMP	22357537
GO:0071356	Process	Cellular response to tumor necrosis factor	IEA
GO:0071359	Process	Cellular response to dsRNA	IEA
GO:0090263	Process	Positive regulation of canonical Wnt signaling pathway	IMP	20018240
GO:0097398	Process	Cellular response to interleukin-17	IEA
GO:0098586	Process	Cellular response to virus	IEA
GO:0140311	Function	Protein sequestering activity	ISS
GO:0140367	Process	Antibacterial innate immune response	IDA	20406817
GO:1900016	Process	Negative regulation of cytokine production involved in inflammatory response	IDA	16968406
GO:1900127	Process	Positive regulation of hyaluronan biosynthetic process	IDA	17324121
GO:1904385	Process	Cellular response to angiotensin	IMP	22357537
GO:2000630	Process	Positive regulation of miRNA metabolic process	IMP	22357537

Other IDs

• MIM: 164011
• HGNC: 7794
• e!Ensembl: ENSG00000109320

Protein

• UniProt ID: P19838
• Protein name: Nuclear factor NF-kappa-B p105 subunit (DNA-binding factor KBF1) (EBP-1) (Nuclear factor of kappa light polypeptide gene enhancer in B-cells 1) [Cleaved into: Nuclear factor NF-kappa-B p50 subunit]
• Protein function: NF-kappa-B is a pleiotropic transcription factor present in almost all cell types and is the endpoint of a series of signal transduction events that are initiated by a vast array of stimuli related to many biological processes such as inflammati
• PDB: 1MDI, 1MDJ, 1MDK, 1NFI, 1SVC, 2DBF, 2O61, 3GUT, 7LEQ, 7LET, 7LF4, 7LFC, 7RG4, 7RG5, 8TQD
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00554	RHD_DNA_bind	44 → 242	Rel homology DNA-binding domain	Domain
  PF16179	RHD_dimer	251 → 353	Rel homology dimerisation domain	Domain
  PF00023	Ank	583 → 613	Ankyrin repeat	Repeat
  PF12796	Ank_2	679 → 749	Ankyrin repeats (3 copies)	Repeat
  PF00531	Death	816 → 892	Death domain	Domain

• Sequence:

  MAEDDPYLGRPEQMFHLDPSLTHTIFNPEVFQPQMALPTDGPYLQILEQPKQRGFRFRYV
  CEGPSHGGLPGASSEKNKKSYPQVKICNYVGPAKVIVQLVTNGKNIHLHAHSLVGKHCED
  GICTVTAGPKDMVVGFANLGILHVTKKKVFETLEARMTEACIRGYNPGLLVHPDLAYLQA
  EGGGDRQLGDREKELIRQAALQQTKEMDLSVVRLMFTAFLPDSTGSFTRRLEPVVSDAIY
  DSKAPNASNLKIVRMDRTAGCVTGGEEIYLLCDKVQKDDIQIRFYEEEENGGVWEGFGDF
  SPTDVHRQFAIVFKTPKYKDINITKPASVFVQLRRKSDLETSEPKPFLYYPEIKDKEEVQ
  RKRQKLMPNFSDSFGGGSGAGAGGGGMFGSGGGGGGTGSTGPGYSFPHYGFPTYGGITFH
  PGTTKSNAGMKHGTMDTESKKDPEGCDKSDDKNTVNLFGKVIETTEQDQEPSEATVGNGE
  VTLTYATGTKEESAGVQDNLFLEKAMQLAKRHANALFDYAVTGDVKMLLAVQRHLTAVQD
  ENGDSVLHLAIIHLHSQLVRDLLEVTSGLISDDIINMRNDLYQTPLHLAVITKQEDVVED
  LLRAGADLSLLDRLGNSVLHLAAKEGHDKVLSILLKHKKAALLLDHPNGDGLNAIHLAMM
  SNSLPCLLLLVAAGADVNAQEQKSGRTALHLAVEHDNISLAGCLLLEGDAHVDSTTYDGT
  TPLHIAAGRGSTRLAALLKAAGADPLVENFEPLYDLDDSWENAGEDEGVVPGTTPLDMAT
  SWQVFDILNGKPYEPEFTSDDLLAQGDMKQLAEDVKLQLYKLLEIPDPDKNWATLAQKLG
  LGILNNAFRLSPAPSKTLMDNYEVSGGTVRELVEALRQMGYTEAIEVIQAASSPVKTTSQ
  AHSLPLSPASTRQQIDELRDSDSVCDSGVETSFRKLSFTESLTSGASLLTLNKMPHDYGQ
  EGPLEGKI

• Sequence length: 968

Pathways

KEGG:

Antifolate resistance
MAPK signaling pathway
Ras signaling pathway
cAMP signaling pathway
Chemokine signaling pathway
NF-kappa B signaling pathway
HIF-1 signaling pathway
Sphingolipid signaling pathway
PI3K-Akt signaling pathway
Apoptosis
Longevity regulating pathway
Cellular senescence
Osteoclast differentiation
Neutrophil extracellular trap formation
Toll-like receptor signaling pathway
NOD-like receptor signaling pathway
RIG-I-like receptor signaling pathway
Cytosolic DNA-sensing pathway
C-type lectin receptor signaling pathway
IL-17 signaling pathway
Th1 and Th2 cell differentiation
Th17 cell differentiation
T cell receptor signaling pathway
B cell receptor signaling pathway
TNF signaling pathway
Neurotrophin signaling pathway
Prolactin signaling pathway
Adipocytokine signaling pathway
Relaxin signaling pathway
Insulin resistance
Non-alcoholic fatty liver disease
AGE-RAGE signaling pathway in diabetic complications
Alcoholic liver disease
Alzheimer disease
Pathways of neurodegeneration - multiple diseases
Cocaine addiction
Epithelial cell signaling in Helicobacter pylori infection
Pathogenic Escherichia coli infection
Shigellosis
Salmonella infection
Pertussis
Legionellosis
Yersinia infection
Leishmaniasis
Chagas disease
Toxoplasmosis
Amoebiasis
Tuberculosis
Hepatitis C
Hepatitis B
Measles
Human cytomegalovirus infection
Influenza A
Human papillomavirus infection
Human T-cell leukemia virus 1 infection
Kaposi sarcoma-associated herpesvirus infection
Herpes simplex virus 1 infection
Epstein-Barr virus infection
Human immunodeficiency virus 1 infection
Coronavirus disease - COVID-19
Pathways in cancer
Transcriptional misregulation in cancer
Viral carcinogenesis
MicroRNAs in cancer
Chemical carcinogenesis - receptor activation
Chemical carcinogenesis - reactive oxygen species
Pancreatic cancer
Prostate cancer
Chronic myeloid leukemia
Acute myeloid leukemia
Small cell lung cancer
PD-L1 expression and PD-1 checkpoint pathway in cancer
Inflammatory bowel disease
Diabetic cardiomyopathy
Lipid and atherosclerosis
Fluid shear stress and atherosclerosis

Reactome:

Activation of NF-kappaB in B cells
RIP-mediated NFkB activation via ZBP1
Regulated proteolysis of p75NTR
Downstream TCR signaling
NF-kB is activated and signals survival
Senescence-Associated Secretory Phenotype (SASP)
FCERI mediated NF-kB activation
DEx/H-box helicases activate type I IFN and inflammatory cytokines production
PKMTs methylate histone lysines
TAK1 activates NFkB by phosphorylation and activation of IKKs complex
Interleukin-1 processing
IkBA variant leads to EDA-ID
CLEC7A (Dectin-1) signaling
CD209 (DC-SIGN) signaling
CLEC7A/inflammasome pathway
MAP3K8 (TPL2)-dependent MAPK1/3 activation
Neutrophil degranulation
The NLRP3 inflammasome
Transcriptional Regulation by VENTX
Interleukin-1 signaling
TRAF6 mediated NF-kB activation
HCMV Early Events
Purinergic signaling in leishmaniasis infection

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
Common variable immunodeficiency	Likely pathogenic; Pathogenic	rs2476539565, rs1578790573, rs1578771120, rs1578771197, rs1578793298, rs1578793312, rs1578809101	RCV004018000 RCV001027602 RCV001027589 RCV001027591 RCV001027592 RCV001027598 RCV001027594	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Immunodeficiency, common variable, 12	Pathogenic; Likely pathogenic	rs1724867456, rs2149123423, rs2149181831, rs2149192665, rs2149168346, rs2149222635, rs2149192634, rs2476581538, rs869320688, rs869320689, rs869320754, rs2149203291, rs2476539565, rs2476562023, rs2476436133, rs773694113, rs1560679469, rs1560711146, rs939459600, rs1578771120, rs1578793312, rs1578811073, rs1723945421, rs1741461840, rs1724875502, rs1728635624	RCV001327993 RCV001374703 RCV001374705 RCV001374708 RCV002250147 RCV002272783 RCV002279898 RCV002466909 RCV000192693 RCV000194108 RCV000195130 RCV003142251 RCV003990407 RCV003991936 RCV004577121 RCV000611708 RCV000761318 RCV000761319 RCV005253121 RCV001374707 RCV001262753 RCV001374706 RCV003142035 RCV001253202 RCV001262328 RCV001263439	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Inherited Immunodeficiency Diseases	Likely pathogenic; Pathogenic	rs773694113, rs869320689, rs1578735747, rs1578771211, rs1578793312, rs1578795536, rs1578809101, rs1578811073, rs1578811245, rs1578735709	RCV001027605 RCV001027603 RCV001027600 RCV001027601 RCV001027604 RCV001027593 RCV001027595 RCV001027596 RCV001027599 RCV001027597	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
NFKB1-related disorder	Likely pathogenic	rs2476446922, rs2476350193, rs2476178924	RCV003402444 RCV003391550 RCV003402810	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Primary ciliary dyskinesia 3	Pathogenic	rs1387606271	RCV003234817	★★★★☆ 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
B-CELL ACUTE LYMPHOBLASTIC LEUKEMIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BILIARY CIRRHOSIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BILIARY LIVER CIRRHOSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BRAIN ISCHEMIA	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CILIARY DYSKINESIA, PRIMARY, 3	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLONIC NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CROHN'S DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETES MELLITUS, NON-INSULIN-DEPENDENT	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETES MELLITUS, TYPE 2	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DISORDER OF PHARYNX	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign; Likely benign; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
High myopia	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPEROXALURIA	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPOTHYROIDISM	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
IGA GLOMERULONEPHRITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
KIDNEY FAILURE, ACUTE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
KIDNEY FAILURE, CHRONIC	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LIVER CIRRHOSIS, BILIARY	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LIVER DISEASES	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MEMBRANOUS GLOMERULONEPHRITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MOOD DISORDERS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MULTIPLE SCLEROSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OVARIAN CYSTS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PRIMARY BILIARY CHOLANGITIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PRIMARY BILIARY CIRRHOSIS	—	GWAS catalog	★★☆☆☆ 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
Sarcoma	Benign	ClinVar	★★☆☆☆ 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
SEVERE MYOPIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Squamous cell lung carcinoma	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SYSTEMIC SCLERODERMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TONSILLITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TREATMENT REFRACTORY SCHIZOPHRENIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TROPICAL SPASTIC PARAPARESIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ULCERATIVE COLITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
UPPER RESPIRATORY TRACT DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
URTICARIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Conflicting classifications of pathogenicity; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Acquired Hypogammaglobulinemia	Common Variable Immunodeficiency	BEFREE	26279205, 29477724		★☆☆☆☆ Found in Text Mining only
Acquired Hypogammaglobulinemia	Common Variable Immunodeficiency	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Acute Coronary Syndrome	Coronary Syndrome	BEFREE	23671649, 30910844		★☆☆☆☆ Found in Text Mining only
Acute Kidney Insufficiency	Acute Kidney Insufficiency	CTD_human_DG	29286200		★☆☆☆☆ Found in Text Mining only
Acute lymphocytic leukemia	Lymphocytic Leukemia	BEFREE	14603254, 1612589		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma	Adenocarcinoma	LHGDN	12032830, 15073126, 17548685, 18008176, 18032824, 18715846		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma	Adenocarcinoma	CTD_human_DG	19028472		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma	Adenocarcinoma	BEFREE	26990751		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma Of Esophagus	Esophageal Cancer	BEFREE	21750116		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma, Basal Cell	Adenocarcinoma	CTD_human_DG	19028472		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma, Oxyphilic	Adenocarcinoma	CTD_human_DG	19028472		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma, Tubular	Adenocarcinoma	CTD_human_DG	19028472		★☆☆☆☆ Found in Text Mining only
Adenoid Cystic Carcinoma	Adenocarcinoma	BEFREE	23603344		★☆☆☆☆ Found in Text Mining only
Adenoma	Adenoma	BEFREE	23977225		★☆☆☆☆ Found in Text Mining only
Adult Acute Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	14603254		★☆☆☆☆ Found in Text Mining only
Adult Diffuse Large B-Cell Lymphoma	B-cell Lymphoma	BEFREE	28281555		★☆☆☆☆ Found in Text Mining only
Adult Hodgkin Lymphoma	Hodgkin Lymphoma	BEFREE	19223558, 26988706, 30941572		★☆☆☆☆ Found in Text Mining only
Adult T-Cell Lymphoma/Leukemia	T-Cell Lymphoma/Leukemia	LHGDN	15876358		★☆☆☆☆ Found in Text Mining only
Adult T-Cell Lymphoma/Leukemia	T-Cell Lymphoma/Leukemia	BEFREE	18425496		★☆☆☆☆ Found in Text Mining only
Agammaglobulinemia	Agammaglobulinemia	Pubtator	32278790, 32813180, 33995346, 35003082, 36356849	Associate	★☆☆☆☆ Found in Text Mining only
Allergic rhinitis (disorder)	Allergic rhinitis	GWASCAT_DG	30013184		★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	18801740, 20937840, 21329555, 23186989, 24812571, 27997051, 29343717, 30124448, 30478411, 32980851, 33633844, 35129804, 36042609, 37009506, 39183433	Associate	★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	22255598	Stimulate	★☆☆☆☆ Found in Text Mining only
Amyloidosis	Amyloidosis	BEFREE	24345324		★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis	Amyotrophic lateral sclerosis	Pubtator	21408173, 24690380, 26785371, 27512062, 27552911, 35361972	Associate	★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis	Amyotrophic Lateral Sclerosis	BEFREE	27512062, 29447858		★☆☆☆☆ Found in Text Mining only
Amyotrophic lateral sclerosis 1	Amyotrophic lateral sclerosis	Pubtator	12437573	Stimulate	★☆☆☆☆ Found in Text Mining only
Amyotrophic lateral sclerosis 1	Amyotrophic lateral sclerosis	Pubtator	27075172	Associate	★☆☆☆☆ Found in Text Mining only
Anaplasia	Anaplasia	BEFREE	31697816		★☆☆☆☆ Found in Text Mining only
Anemia Aplastic	Aplastic anemia	Pubtator	28764810, 32972988	Associate	★☆☆☆☆ Found in Text Mining only
Anemia Sickle Cell	Sickle cell anemia	Pubtator	11001897, 24551209	Stimulate	★☆☆☆☆ Found in Text Mining only
Anemia Sickle Cell	Sickle cell anemia	Pubtator	19251437	Associate	★☆☆☆☆ Found in Text Mining only
Anemia, Hemolytic	Anemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Aneurysm	Aneurysm	Pubtator	23768831, 31147528	Associate	★☆☆☆☆ Found in Text Mining only
Angina Unstable	Angina pectoris	Pubtator	35942210	Associate	★☆☆☆☆ Found in Text Mining only
Angina, Unstable	Intermediate coronary syndrome	BEFREE	29858968		★☆☆☆☆ Found in Text Mining only
Anhedonia	Anhedonia	BEFREE	30326340		★☆☆☆☆ Found in Text Mining only
Ankylosing spondylitis	Ankylosing Spondylitis	BEFREE	16206345, 24338459, 28938189, 29849019		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ankylosing spondylitis	Ankylosing Spondylitis	GWASCAT_DG	26974007		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Anodontia	Anodontia	Pubtator	11313274, 33943035	Associate	★☆☆☆☆ Found in Text Mining only
Anodontia	Anodontia	Pubtator	14534291, 16042757	Stimulate	★☆☆☆☆ Found in Text Mining only
ANOPHTHALMIA AND PULMONARY HYPOPLASIA	Syndromic microphthalmia	BEFREE	27454293, 29670110, 30463064		★☆☆☆☆ Found in Text Mining only
Antiphospholipid Syndrome	Antiphospholipid syndrome	Pubtator	16385547, 22288586	Associate	★☆☆☆☆ Found in Text Mining only
Anus, Imperforate	Imperforate anus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Aortic Aneurysm	Aortic aneurysm	Pubtator	28198528	Associate	★☆☆☆☆ Found in Text Mining only
Aortic Aneurysm	Aortic Aneurysm	BEFREE	28864290		★☆☆☆☆ Found in Text Mining only
Aortic Aneurysm Abdominal	Aortic aneurysm	Pubtator	20031636, 22694979, 33415145	Associate	★☆☆☆☆ Found in Text Mining only
Aortic Aneurysm Abdominal	Aortic aneurysm	Pubtator	20488324	Stimulate	★☆☆☆☆ Found in Text Mining only
Aortic Aneurysm Thoracic	Thoracic aortic aneurysm	Pubtator	36555139	Associate	★☆☆☆☆ Found in Text Mining only
Aortic Diseases	Aortic disease	Pubtator	35229558	Associate	★☆☆☆☆ Found in Text Mining only
Aortic Valve Insufficiency	Aortic Valve Insufficiency	BEFREE	12868372		★☆☆☆☆ Found in Text Mining only
Aortic Valve Stenosis	Aortic valve stenosis	Pubtator	34494136	Associate	★☆☆☆☆ Found in Text Mining only
Arteriosclerosis	Arteriosclerosis	BEFREE	29462603, 29520165, 30633827		★☆☆☆☆ Found in Text Mining only
Arthritis	Arthritis	Pubtator	12209522, 15828019, 22549135, 25578529, 33060686	Associate	★☆☆☆☆ Found in Text Mining only
Arthritis	Arthritis	LHGDN	15188354		★☆☆☆☆ Found in Text Mining only
Arthritis	Arthritis	BEFREE	28107661, 29355701, 29553845, 31355296, 9811891		★☆☆☆☆ Found in Text Mining only
Arthritis Gouty	Gouty arthritis	Pubtator	39259129	Associate	★☆☆☆☆ Found in Text Mining only
Arthritis Infectious	Infective arthritis	Pubtator	20740673	Associate	★☆☆☆☆ Found in Text Mining only
Arthritis Juvenile	Juvenile arthritis	Pubtator	29409136, 31958219	Associate	★☆☆☆☆ Found in Text Mining only
Arthritis Psoriatic	Psoriatic arthritis	Pubtator	10857783, 16519819, 24587411, 35095831, 35507331, 39509434	Associate	★☆☆☆☆ Found in Text Mining only
Arthritis Psoriatic	Psoriatic arthritis	Pubtator	15955104	Stimulate	★☆☆☆☆ Found in Text Mining only
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	10070274, 11297551, 11406522, 11477102, 11598150, 11822409, 15142264, 15498798, 15743888, 16385502, 16519794, 16519819, 16646028, 16736517, 16803639, 17082220, 17101049, 17482423, 17530707, 18577686, 19503088, 19714631, 19790066, 19877072, 20039412, 20592286, 21128210, 21179282, 21515993, 21862580, 22040886, 22127696, 22549135, 22614743, 22730373, 23028356, 23072510, 23280137, 23690573, 24552146, 24643522, 25077978, 25367151, 25486864, 25963989, 26091715, 26134265, 26587663, 26821827, 27860244, 28083614, 28239238, 28603283, 28677621, 28704431, 28775366, 29879032, 30221683, 30242542, 30285829, 31239367, 31992083, 32468016, 32584515, 33087158, 33483588, 33549125, 34061447, 34165008, 34854396, 34858391, 35095831, 35494514, 35955467, 35967391, 36532040, 36596012, 37382270, 37644537, 38107658, 38225924, 39394168, 39509434, 9797555	Associate	★☆☆☆☆ Found in Text Mining only
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	16427328	Inhibit	★☆☆☆☆ Found in Text Mining only
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	24971370, 27629845	Stimulate	★☆☆☆☆ Found in Text Mining only
Arthritis, Psoriatic	Psoriatic Arthritis	BEFREE	16142871		★☆☆☆☆ Found in Text Mining only
Asphyxia	Asphyxia	Pubtator	12699414	Associate	★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	Pubtator	14764095, 15723090, 16519819, 19610265, 20006706, 23126502, 23690573, 24993907, 25055998, 25380286, 26466682, 27504716, 31803180, 33510050, 33691249, 34004182, 34591794, 37301411, 38057792, 38367422	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Asthma	Asthma	BEFREE	17913447, 23160983, 30502088		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Astrocytoma	Astrocytoma	BEFREE	11381677, 12005399		★☆☆☆☆ Found in Text Mining only
Astrocytoma	Astrocytoma	Pubtator	11381677, 18327814, 19775294, 25659096, 26682910	Associate	★☆☆☆☆ Found in Text Mining only
Ataxia Telangiectasia	Ataxia telangiectasia	Pubtator	32554850, 35619700	Associate	★☆☆☆☆ Found in Text Mining only
Ataxia Telangiectasia	Ataxia telangiectasia	Pubtator	35212385	Stimulate	★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	Pubtator	10206970, 10892347, 11104691, 11120850, 15064395, 15585759, 16141529, 16177180, 16269654, 16573830, 16914532, 20404041, 20418897, 21418223, 21496279, 22140092, 22236003, 24098801, 25550806, 26617700, 26861272, 27465150, 29301341, 29407886, 30005060, 30881601, 31354385, 31362988, 31646601, 32066426, 35543243, 35598196, 36364277, 37629118	Associate	★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	LHGDN	14684616		★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	BEFREE	29462603, 29520165, 30633827		★☆☆☆☆ Found in Text Mining only
Atrial Fibrillation	Atrial fibrillation	Pubtator	18375832	Associate	★☆☆☆☆ Found in Text Mining only
Atrial Fibrillation	Atrial fibrillation	Pubtator	19169931, 29595637	Stimulate	★☆☆☆☆ Found in Text Mining only
Attention deficit hyperactivity disorder	Attention Deficit Hyperactivity Disorder	BEFREE	31649298		★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorder	Autism	Pubtator	21935439, 28808521, 32677958, 35422816	Associate	★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorders	Autism Spectrum Disorder	BEFREE	31260720		★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune disease	Pubtator	10572100, 11433385, 22990857, 23448136, 23824834, 23944604, 24386391, 25640675, 26062845, 26733199, 27609421, 28715461, 29963038, 32879140, 35449863, 36203612, 36402602, 37794597, 37931331, 39201618, 40169858	Associate	★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune Diseases	BEFREE	19081854, 22235006, 23618653, 26598978, 26794091, 27503178, 30016332, 30431214, 31077459, 31481626, 31486986, 31676691		★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune disease	Pubtator	21525354	Stimulate	★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases of the Nervous System	Autoimmune nervous system disorder	Pubtator	27232500	Associate	★☆☆☆☆ Found in Text Mining only
B-Cell Lymphomas	B-Cell Lymphoma	LHGDN	18983609, 19021048		★☆☆☆☆ Found in Text Mining only
B-Cell Lymphomas	B-Cell Lymphoma	BEFREE	19966855, 21902578, 31378910, 31635187, 31697816		★☆☆☆☆ Found in Text Mining only
B-CELL MALIGNANCY, LOW-GRADE	Lymphocytic Leukemia	BEFREE	17047486		★☆☆☆☆ Found in Text Mining only
Barrett Esophagus	Barrett esophagus	Pubtator	15024310, 16682957, 17403674, 19147583, 24852569, 28442495, 29473241	Associate	★☆☆☆☆ Found in Text Mining only
Barrett Esophagus	Barrett esophagus	BEFREE	26990751		★☆☆☆☆ Found in Text Mining only
Basal Ganglia Diseases	Basal ganglia disease	Pubtator	15093542	Associate	★☆☆☆☆ Found in Text Mining only
Behcet Syndrome	Behcet disease	Pubtator	15986355, 25367031, 26784953, 35941595, 36333776, 37264476	Associate	★☆☆☆☆ Found in Text Mining only
Behcet Syndrome	Behcet Syndrome	BEFREE	18616724, 25367031, 26053525, 28115215		★☆☆☆☆ Found in Text Mining only
Benign Prostatic Hyperplasia	Benign Prostatic Hyperplasia	BEFREE	21499820		★☆☆☆☆ Found in Text Mining only
Bicuspid Aortic Valve Disease	Bicuspid aortic valve	Pubtator	34648622	Associate	★☆☆☆☆ Found in Text Mining only
Biliary Atresia	Biliary atresia	Pubtator	29070776	Associate	★☆☆☆☆ Found in Text Mining only
Biliary cirrhosis	Biliary cirrhosis	CTD_human_DG	21399635		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Biliary Cirrhosis, Primary, 1	Biliary cirrhosis	CTD_human_DG	21399635		★☆☆☆☆ Found in Text Mining only
Bipolar Disorder	Bipolar Disorder	BEFREE	15625200, 16823804, 17123476, 17224092, 18189279, 18545269, 29981961		★☆☆☆☆ Found in Text Mining only
Bipolar Disorder	Bipolar disorder	Pubtator	24143878, 27759212, 33436571, 36462601, 36463340	Associate	★☆☆☆☆ Found in Text Mining only
Bipolar Disorder	Bipolar disorder	Pubtator	25740047, 36303132	Inhibit	★☆☆☆☆ Found in Text Mining only
Bladder Neoplasm	Bladder Neoplasm	LHGDN	12855659, 17725175		★☆☆☆☆ Found in Text Mining only
Bladder Neoplasm	Bladder Neoplasm	BEFREE	19778281, 23977085, 26484607, 30713476, 31200745		★☆☆☆☆ Found in Text Mining only
Blau syndrome	Blau syndrome	Pubtator	12626759, 15459013, 19116920, 20039400, 36192768	Associate	★☆☆☆☆ Found in Text Mining only
Blister	Blister	Pubtator	8757764	Associate	★☆☆☆☆ Found in Text Mining only
Bloch Sulzberger syndrome	Incontinentia pigmenti syndrome	LHGDN	11859566		★☆☆☆☆ Found in Text Mining only
Blood Coagulation Disorders	Blood coagulation disorder	Pubtator	33633307, 34494136, 37605849	Associate	★☆☆☆☆ Found in Text Mining only
Blood Platelet Disorders	Platelet disorder	Pubtator	24730061	Associate	★☆☆☆☆ Found in Text Mining only
Bohring syndrome	Bohring syndrome	Pubtator	26871511	Associate	★☆☆☆☆ Found in Text Mining only
Bone Diseases	Bone disease	Pubtator	16497877, 16736517, 33483588	Associate	★☆☆☆☆ Found in Text Mining only
Bone Diseases Metabolic	Bone disease	Pubtator	25565391	Associate	★☆☆☆☆ Found in Text Mining only
Bone Marrow Failure Disorders	Bone marrow failure syndromes	Pubtator	18055871, 28764810	Associate	★☆☆☆☆ Found in Text Mining only
Borderline Personality Disorder	Borderline personality disorder	BEFREE	24339136, 31536946		★☆☆☆☆ Found in Text Mining only
Brachycephaly	Brachycephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Brachydactyly Type D	Brachydactyly	Pubtator	28504607	Stimulate	★☆☆☆☆ Found in Text Mining only
Brain Diseases	Brain disease	Pubtator	22805531	Associate	★☆☆☆☆ Found in Text Mining only
Brain Injuries Traumatic	Brain injuries	Pubtator	37801989	Associate	★☆☆☆☆ Found in Text Mining only
Brain Ischemia	Cerebral Ischemia	CTD_human_DG	18628779		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Brain Neoplasms	Brain neoplasms	Pubtator	21364648, 33864076, 33991013, 36007522	Associate	★☆☆☆☆ Found in Text Mining only
Breast Cancer, Familial	Breast Cancer	BEFREE	17487680		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	15481028, 19668231, 22581827, 24386318, 25559835, 25974963, 26563370, 26835711, 27105503, 28412955, 29423058, 29631685, 31297336, 31382678, 31450925, 31556319, 31556759		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	10373501, 11359788, 11689575, 12398896, 12771144, 15044447, 15087380, 15220474, 17189385, 17407600, 17574021, 17670913, 17890907, 18242184, 18283314, 18504431, 19047049, 19049961, 19060926, 19273176, 19276662, 19325136, 19422389, 19433448, 19533666, 19538528, 19687301, 19706645, 19796390, 19883646, 19920189, 19940361, 20102612, 20151982, 20154269, 20180807, 20457620, 20459645, 20509143, 20562110, 20631257, 20688878, 20705611, 20716114, 20718733, 20735436, 20798686, 20854893, 21127496, 21187089, 21189284, 21629247, 21712253, 21754991, 21779361, 21884980, 22083956, 22249250, 22302350, 22436383, 22753698, 22987487, 23056468, 23145117, 23317209, 23344197, 23378578, 23429291, 23510475, 23529385, 23619300, 23626833, 23634849, 23708960, 23892407, 23902710, 23934482, 24122876, 24141032, 24239807, 24466264, 24481412, 24568463, 24760075, 24864130, 24896091, 24954507, 25063873, 25083991, 25153725, 25174454, 25184276, 25213863, 25377085, 25419573, 25486864, 25504433, 25536365, 25550533, 25559835, 25670016, 25732226, 25759022, 25792601, 25833211, 25903579, 25928089, 25955298, 25990213, 26011589, 26169986, 26182949, 26317411, 26433127, 26513020, 26530254, 26621841, 26745120, 26779636, 26814130, 26835711, 26905583, 27248826, 27329104, 27404455, 27727280, 27864353, 28107418, 28190248, 28402272, 28412955, 28423692, 28808806, 28832545, 28885545, 28947144, 29250535, 29343717, 29344652, 29621649, 29703230, 29749438, 29938218, 30027470, 30157918, 30177620, 30497491, 30744593, 31128056, 31337349, 31341911, 31382678, 31511352, 31597263, 31784542, 31936263, 31964465, 32448393, 32455624, 32461377, 32784919, 33023375, 33529238, 33621853, 33728753, 33785053, 34036857, 34057118, 34299224, 34711117, 34779498, 35014681, 35264224, 35373393, 35945910, 36148946, 36184517, 36273585, 36412644, 36555293, 36555812, 36923551, 37024472, 37041130, 37101128, 37377974, 37454220, 37539706, 37651838, 37804426, 37977037, 37988189, 38373689, 39175074, 39278618, 39375417, 39862080, 40169858, 40650045, 9188464, 9681829	Associate	★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	16571274, 28629477, 32239615, 32277626, 9618523	Stimulate	★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	17227585, 18546262, 19307053, 26835711, 40666524	Inhibit	★☆☆☆☆ Found in Text Mining only
Breast Neoplasms Male	Male breast neoplasms	Pubtator	19442295	Associate	★☆☆☆☆ Found in Text Mining only
Bronchiectasis	Bronchiectasis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Bronchiolitis	Bronchiolitis	Pubtator	26541527, 29244796	Associate	★☆☆☆☆ Found in Text Mining only
Bronchiolitis Obliterans	Bronchiolitis obliterans	Pubtator	35550018	Associate	★☆☆☆☆ Found in Text Mining only
Bronchopneumonia	Bronchopneumonia	Pubtator	33719773	Associate	★☆☆☆☆ Found in Text Mining only
Bronchopulmonary Dysplasia	Bronchopulmonary dysplasia	Pubtator	16049063, 29644893, 39807735	Associate	★☆☆☆☆ Found in Text Mining only
Bronchopulmonary Dysplasia	Bronchopulmonary dysplasia	Pubtator	17592547	Stimulate	★☆☆☆☆ Found in Text Mining only
Bronchopulmonary Dysplasia	Bronchopulmonary Dysplasia	BEFREE	24339136		★☆☆☆☆ Found in Text Mining only
Burkitt Lymphoma	Burkitt lymphoma	Pubtator	11799186, 15498850, 15755279, 15979856, 18550789, 19018532, 21792887, 23237561, 23603894, 31719683, 7969136	Associate	★☆☆☆☆ Found in Text Mining only
Burkitt Lymphoma	Burkitt`s Lymphoma	BEFREE	15940251		★☆☆☆☆ Found in Text Mining only
Burkitt Lymphoma	Burkitt`s Lymphoma	LHGDN	15940251, 15979856, 18661398		★☆☆☆☆ Found in Text Mining only
Burkitt Lymphoma	Burkitt lymphoma	Pubtator	21856773	Inhibit	★☆☆☆☆ Found in Text Mining only
Cachexia	Cachexia	Pubtator	15170030, 19857958, 26053616, 34630405	Associate	★☆☆☆☆ Found in Text Mining only
Calcinosis	Calcinosis	Pubtator	23416929, 25407893, 26515875, 27441657, 29227975, 36958298	Associate	★☆☆☆☆ Found in Text Mining only
Cap Myopathy	Cap myopathy	Pubtator	24518599	Associate	★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	10049353, 10207072, 10637284, 10788437, 12063265, 12398896, 12913277, 14679213, 14711835, 14716817, 15016316, 15184909, 15265936, 15484295, 15498850, 15551755, 15710601, 15894263, 15920558, 16109772, 16452479, 16551621, 16624823, 16751281, 16818647, 17114179, 17332240, 17404114, 17699782, 17957251, 18204203, 18313693, 18334025, 18347013, 18752053, 18779315, 18974130, 19033441, 19038492, 19064727, 19144268, 19176230, 19558549, 19608751, 20009901, 20010875, 20051109, 20353939, 20930110, 21474709, 21540330, 21777808, 21857917, 21908405, 22065587, 22249179, 22509384, 23055197, 23185316, 23360921, 23546975, 23936501, 23977225, 24272484, 24450414, 24565101, 24692067, 24707489, 24885472, 24901306, 24925528, 25255445, 25820700, 26363554, 26563375, 26595830, 26801246, 26914121, 26959057, 27732942, 27764577, 28393178, 28627585, 29317648, 29581234, 31382678, 31576094, 32641749, 32945470, 34907738, 35052468, 35108274, 35210364, 35857125, 35909476, 36191884, 36519789, 37116131, 37203408, 37651838, 37946130, 39384957	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	11948459, 2015552		★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	Pubtator	18719365	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	Pubtator	23659359	Stimulate	★☆☆☆☆ Found in Text Mining only
Carcinoma Adenoid Cystic	Adenoid cystic carcinoma	Pubtator	16900776, 19317804	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Basal Cell	Basal cell carcinoma	Pubtator	23690997, 30178853	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Ductal	Ductal carcinoma	Pubtator	30760857	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	11819787, 12365017, 12909638, 14530285, 14563954, 14760757, 15991283, 16419152, 16489684, 16595893, 16627981, 16778086, 17228877, 17711513, 19089909, 19331697, 19797428, 19821157, 20010875, 20186755, 20356387, 20628843, 20930381, 21247894, 21490166, 21545687, 21569410, 21572107, 21692943, 21719740, 21857917, 22363545, 22396537, 22590978, 23457512, 23483900, 23751896, 24065232, 24066693, 24401154, 24565101, 24578542, 25093504, 25169545, 25223483, 25268581, 25289898, 25404639, 25537088, 25823824, 25947641, 26188902, 26449829, 26458400, 26461058, 26655845, 26708147, 26718026, 26730736, 26928365, 27092498, 27129158, 27174710, 27336713, 27343552, 27349221, 27821177, 27821810, 27884159, 27965464, 28100270, 28403886, 28460481, 28508927, 28560380, 29358721, 29444104, 29749446, 29774077, 29795379, 29843222, 29881400, 30250040, 30359340, 30572915, 30754643, 30766880, 31059053, 31288582, 31469428, 31477445, 31576094, 31581704, 31586705, 31841182, 31988091, 32003539, 32382077, 32641749, 32685465, 32720731, 32755957, 33289342, 33744849, 33791378, 34048194, 34159680, 34199025, 34284695, 34445559, 35139763, 35196258, 35546067, 35602902, 35744061, 35834989, 36069218, 36274317, 36829052, 37366426, 37564197, 37730133, 37858067, 37976890, 38058065, 38169579, 38172174, 38341612, 38401464, 40139029, 40429658	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	31937236	Stimulate	★☆☆☆☆ Found in Text Mining only
Carcinoma Intraductal Noninfiltrating	Intraductal noninfiltrating carcinoma	Pubtator	32980776	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Merkel Cell	Merkel cell carcinoma	Pubtator	17115023, 32753470	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Mucoepidermoid	Mucoepidermoid carcinoma	Pubtator	21804218, 27682876	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma of bladder	Bladder carcinoma	BEFREE	19778281, 23977085, 26484607, 30713476, 31200745		★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	21150337, 21464588, 22941571, 23044494, 23322360, 23333461, 25917613, 26300007, 26563375		★☆☆☆☆ Found in Text Mining only
Carcinoma Ovarian Epithelial	Epithelial ovarian carcinoma	Pubtator	19500386, 19619321, 21623171, 22985132, 23546975, 24237932, 24452475, 24530737, 24740199, 26617813, 27012551, 27118139, 27460076, 27708225, 30395153, 34071938, 35951361, 36799490, 37175530	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Pancreatic Ductal	Pancreatic ductal carcinoma	Pubtator	18254976, 20556833, 23301098, 25299780, 28902358, 29867042, 30426611, 30841468, 31432181, 31688605, 31991068, 33525943, 34067020, 35864095, 39372406	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	10491412, 15004148, 9694722	Inhibit	★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	18925694, 18928570, 23816956, 24334253, 24885059, 26500094, 26617834, 26918621, 27682873, 28235946, 28550686, 29357946, 29515108, 29980758, 30911345, 31097685, 31723229, 31939627, 32303673, 33059651, 33177244, 34133712, 34190011, 34870494, 35063404, 35130882, 35308143, 35668194, 35696242, 35857125, 37527815, 37847185, 40765826	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Small Cell	Small cell carcinoma	Pubtator	37189139	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	15769641, 15920558, 18310089, 19892748, 20564339, 25230785, 26212909, 33925297, 34934042, 35130902, 35756488, 36557911, 37303736, 40141137	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma, Cribriform	Carcinoma	CTD_human_DG	19028472		★☆☆☆☆ Found in Text Mining only
Carcinoma, Granular Cell	Carcinoma	CTD_human_DG	19028472		★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	17145890, 21138333, 23546975, 25659662, 26345753, 26683819, 27484466, 28008951, 28206956, 30185771		★☆☆☆☆ Found in Text Mining only
Carcinosarcoma	Carcinoma	Pubtator	28193280	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomegaly	Cardiomegaly	Pubtator	28753533, 31922230	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	Pubtator	39294340	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathy Dilated	Dilated cardiomyopathy	Pubtator	19480714, 20534156	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathy Hypertrophic	Hypertrophic cardiomyopathy	Pubtator	22447464, 35328083	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathy, Dilated	Cardiomyopathy	BEFREE	19480714, 20534156		★☆☆☆☆ Found in Text Mining only
Cardiomyopathy, Familial Idiopathic	Cardiomyopathy	BEFREE	19480714		★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular disease	Pubtator	20534156, 24760806, 29407886, 29968158, 31002156, 33172487, 34346841, 35831800, 36317060, 39333655	Associate	★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular Diseases	BEFREE	22742859		★☆☆☆☆ Found in Text Mining only
Carotid Artery Diseases	Carotid artery disease	LHGDN	16212965		★☆☆☆☆ Found in Text Mining only
Carotid Artery Diseases	Carotid artery disease	Pubtator	33973530, 35937796	Associate	★☆☆☆☆ Found in Text Mining only
Carotid Stenosis	Carotid artery stenosis	Pubtator	20455997	Associate	★☆☆☆☆ Found in Text Mining only
Cartilage Diseases	Cartilage disease	Pubtator	18205922, 23603903, 24020912, 24831018, 25653475, 29806631, 32887644, 35955467	Associate	★☆☆☆☆ Found in Text Mining only
Celiac Disease	Celiac disease	LHGDN	12743709		★☆☆☆☆ Found in Text Mining only
Celiac Disease	Celiac disease	BEFREE	15182326, 16635909		★☆☆☆☆ Found in Text Mining only
Celiac Disease	Celiac disease	Pubtator	24163129, 31591516	Associate	★☆☆☆☆ Found in Text Mining only
Cerebellar Ataxia	Cerebellar ataxia	Pubtator	36104591	Associate	★☆☆☆☆ Found in Text Mining only
Cerebral Aneurysm	Cerebral Aneurysm	BEFREE	18025535		★☆☆☆☆ Found in Text Mining only
Cerebral Hemorrhage	Cerebral hemorrhage	Pubtator	20420814, 33206327	Stimulate	★☆☆☆☆ Found in Text Mining only
Cerebral Hemorrhage	Cerebral hemorrhage	Pubtator	32769962	Associate	★☆☆☆☆ Found in Text Mining only
Cerebral Infarction	Ischemic stroke	Pubtator	17077523, 32164735, 34699043	Associate	★☆☆☆☆ Found in Text Mining only
Cerebral Infarction	Cerebral Infarction	BEFREE	18675321, 28912644		★☆☆☆☆ Found in Text Mining only
Cerebrovascular accident	Stroke	BEFREE	21114618, 29481794		★☆☆☆☆ Found in Text Mining only
Cerebrovascular Disorders	Cerebrovascular disorder	Pubtator	10892347, 19460784, 31744135, 36479843	Associate	★☆☆☆☆ Found in Text Mining only
cervical cancer	Cervical Cancer	BEFREE	17098279, 22284893, 29484114, 31128029		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervix carcinoma	Cervix carcinoma	BEFREE	11765912, 17098279, 25773394, 29484114, 31128029		★☆☆☆☆ Found in Text Mining only
Childhood Acute Lymphoblastic Leukemia	Lymphoblastic Leukemia	BEFREE	14603254, 31661353		★☆☆☆☆ Found in Text Mining only
Childhood asthma	Asthma	BEFREE	29956778		★☆☆☆☆ Found in Text Mining only
Cholangiocarcinoma	Cholangiocarcinoma	Pubtator	20412118, 21325634, 22972485, 23992017, 26310932, 27290989, 27571770, 27616304, 29620225, 33038372, 34948304, 35033156, 35092379, 36476255, 36972768, 38181271	Associate	★☆☆☆☆ Found in Text Mining only
Cholangiocarcinoma	Cholangiocarcinoma	BEFREE	23362950		★☆☆☆☆ Found in Text Mining only
Cholangiocarcinoma	Cholangiocarcinoma	Pubtator	26802647	Stimulate	★☆☆☆☆ Found in Text Mining only
Cholangitis, Sclerosing	Cholangitis	GWASCAT_DG	26974007		★☆☆☆☆ Found in Text Mining only
Cholestasis	Cholelithiasis	Pubtator	30141207	Associate	★☆☆☆☆ Found in Text Mining only
Cholesteatoma	Cholesteatoma	Pubtator	20414373, 36837507	Associate	★☆☆☆☆ Found in Text Mining only
Cholesteatoma Middle Ear	Middle ear cholesteatoma	Pubtator	39174880	Associate	★☆☆☆☆ Found in Text Mining only
Chondrosarcoma	Chondrosarcoma	Pubtator	20178602, 23320110, 23874483, 24047437, 25823818	Associate	★☆☆☆☆ Found in Text Mining only
Chordoma	Chordoma	Pubtator	39393273	Associate	★☆☆☆☆ Found in Text Mining only
Chromosomal Instability	Chromosomal instability	Pubtator	18556456	Associate	★☆☆☆☆ Found in Text Mining only
Chronic Disease	Chronic disease	Pubtator	21474709, 26931128, 32369831	Associate	★☆☆☆☆ Found in Text Mining only
Chronic heart failure	Heart Failure	BEFREE	23640436		★☆☆☆☆ Found in Text Mining only
Chronic kidney disease stage 5	Kidney Disease	BEFREE	26794449		★☆☆☆☆ Found in Text Mining only
Chronic Kidney Diseases	Kidney Disease	BEFREE	26678048, 30975176		★☆☆☆☆ Found in Text Mining only
Chronic Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	17047486, 17463171, 20520640, 25922067, 26062845, 28302063, 28969553		★☆☆☆☆ Found in Text Mining only
Chronic Obstructive Airway Disease	Chronic Obstructive Pulmonary Disease	BEFREE	18635891, 23322360		★☆☆☆☆ Found in Text Mining only
Chronic Obstructive Airway Disease	Chronic Obstructive Pulmonary Disease	HPO_DG			★☆☆☆☆ Found in Text Mining only
Chronic otitis media	Otitis media	HPO_DG			★☆☆☆☆ Found in Text Mining only
Chronic Pain	Chronic pain	Pubtator	26668319	Associate	★☆☆☆☆ Found in Text Mining only
Chronic Periodontitis	Periodontitis	Pubtator	16428799, 34770985	Associate	★☆☆☆☆ Found in Text Mining only
Chronobiology Disorders	Chronobiology disorder	Pubtator	18832525	Associate	★☆☆☆☆ Found in Text Mining only
Ciliopathies	Ciliopathy	Pubtator	24183449	Associate	★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognitive disorder	BEFREE	16262206, 31780341		★☆☆☆☆ Found in Text Mining only
Cognitive Dysfunction	Cognition disorder	Pubtator	24690380	Associate	★☆☆☆☆ Found in Text Mining only
Colitis	Colitis	BEFREE	31621446		★☆☆☆☆ Found in Text Mining only
Colitis Collagenous	Collagenous colitis	Pubtator	15753535	Associate	★☆☆☆☆ Found in Text Mining only
Colitis Ulcerative	Ulcerative colitis	Pubtator	11923606, 15753535	Stimulate	★☆☆☆☆ Found in Text Mining only
Colitis Ulcerative	Ulcerative colitis	Pubtator	19230040, 20806430, 21245992, 23285182, 23322997, 26062845, 27476546, 28408791, 28839432, 28944823, 30513523, 31885422, 36839242, 37638002, 37960728, 38070204	Associate	★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	19509257, 21129206, 23002237		★☆☆☆☆ Found in Text Mining only
Colonic Diseases	Colonic disease	Pubtator	20067776	Associate	★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic neoplasm	Pubtator	10744679, 12218071, 18032824, 20424169, 22593190, 23604035, 25303828, 25431425, 25556496, 36246978	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colonic Neoplasms	Colonic Neoplasms	LHGDN	15618021, 17603079, 18515093		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colonic Neoplasms	Colonic Neoplasms	CTD_human_DG	19028472, 20715105		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal Carcinoma	Colorectal Cancer	BEFREE	17852842, 18059397, 19658179, 21129206, 21738780, 22530801, 23002237, 23803016, 23806437, 23977225, 25705893, 28061442, 28389768, 28535417, 28672935, 29566186, 29588321, 30794281		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	10784420, 11833093, 12398896, 12771929, 12901803, 14520472, 14527959, 15188000, 15314290, 15484295, 15655349, 15770215, 16051228, 16052516, 16551621, 17721042, 18515093, 19037088, 19056378, 19172851, 19390125, 19436306, 19513071, 19658179, 19735878, 20398057, 20414006, 20424169, 20433755, 20558745, 20836841, 21122983, 21129206, 21625939, 21713600, 21722370, 21738780, 21994466, 22678765, 22843550, 23002237, 23071493, 23194063, 23451189, 23532689, 23737956, 23977225, 24099668, 24518414, 25002914, 25085593, 25134433, 25412312, 25705893, 25812680, 26045788, 26056802, 26124005, 26220687, 26318844, 26427115, 26491668, 26617761, 26625825, 26771524, 27098148, 27099440, 27264420, 27639612, 27713159, 28061442, 28061540, 28068431, 28077578, 28408791, 28687755, 28796265, 29085228, 29116428, 29188362, 29202800, 29352261, 29358861, 29484409, 29893308, 30363706, 30612312, 31147452, 31180548, 31299935, 31592535, 31802830, 31827380, 31870117, 32179092, 32203206, 32210720, 32352854, 32408577, 32456215, 32701605, 32901872, 32968054, 32985589, 33213490, 33302959, 33859619, 33878036, 33961948, 33983643, 34193174, 34373442, 34380870, 34395609, 34443375, 34502219, 34879254, 35173535, 35179811, 35269880, 36033828, 36036768, 36050500, 36198850, 36235161, 36364474, 36433652, 36434686, 36741376, 36982429, 37086961, 37157810, 37391410, 37406987, 37564983, 38041015, 38430146	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal Neoplasms	LHGDN	12771929, 12839942, 17611682, 17761976		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	21129206, 33413474	Inhibit	★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	34096454, 34711117, 37116131	Stimulate	★☆☆☆☆ Found in Text Mining only
Combined immunodeficiency	Severe combined immunodeficiency disease	BEFREE	29403474		★☆☆☆☆ Found in Text Mining only
Common Variable Immunodeficiency	Common Variable Immunodeficiency	BEFREE	26279205, 27338827, 27923702, 29403474, 29477724, 30063981		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Common Variable Immunodeficiency	Common Variable Immunodeficiency	ORPHANET_DG	26279205		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Common Variable Immunodeficiency	Common variable immunodeficiency	Pubtator	26279205, 27338827, 28778864, 29477724, 30363934, 32047491, 32961586, 32972988, 33859323, 33995346, 35784294, 36105815, 36203612, 36356849, 36571238, 37600787, 38423196, 40703516	Associate	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Common variable immunodeficiency	Common Variable Immunodeficiency	Orphanet			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Common Variable Immunodeficiency	Common Variable Immunodeficiency	CTD_human_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Congenital adrenal hyperplasia due to 21 hydroxylase deficiency	Congenital adrenal hyperplasia	Pubtator	1869518	Associate	★☆☆☆☆ Found in Text Mining only
Congenital chromosomal disease	Congenital Chromosomal Disease	BEFREE	20971509		★☆☆☆☆ Found in Text Mining only
Congenital contractural arachnodactyly	Congenital contractural arachnodactyly	Pubtator	24143223	Inhibit	★☆☆☆☆ Found in Text Mining only
Congenital heart disease	Congenital Heart Disease	BEFREE	23299027		★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	BEFREE	20534156, 23357300, 23640436, 27814644, 28367848		★☆☆☆☆ Found in Text Mining only
Contracture	Contracture	Pubtator	19214689	Associate	★☆☆☆☆ Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	BEFREE	17047486, 23295440, 26484607, 29212573, 31820316, 8756377		★☆☆☆☆ Found in Text Mining only
Corneal Dystrophies Hereditary	Corneal dystrophy	Pubtator	35028007	Associate	★☆☆☆☆ Found in Text Mining only
Corneal Neovascularization	Corneal neovascularization	Pubtator	26388611	Associate	★☆☆☆☆ Found in Text Mining only
Coronary Aneurysm	Coronary aneurysm	Pubtator	15064395	Associate	★☆☆☆☆ Found in Text Mining only
Coronary Arteriosclerosis	Coronary Arteriosclerosis	BEFREE	21726863, 22742859, 23357300, 23671649, 24818816, 26075620, 26799199, 27525877, 28088561		★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	Pubtator	20014193	Stimulate	★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	BEFREE	21192737, 21726863, 22116284, 22742859, 23357300, 23671649, 24818816, 24875414, 26075620, 26799199, 27525877, 28088561, 29131009, 30902734		★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	Pubtator	21368773, 23690573, 23692311, 24736319, 24818816, 26075620, 27525877, 29131009, 31340238, 32164735, 33177541, 33739370, 34315328, 35801781, 36184551, 36317060, 39614436	Associate	★☆☆☆☆ Found in Text Mining only
Coronary Disease	Coronary artery disease	Pubtator	19814730, 21231951, 21726863, 23671649, 26045738, 27091178, 32957369, 35831800, 35958279	Associate	★☆☆☆☆ Found in Text Mining only
Coronary heart disease	Coronary Heart Disease	BEFREE	21726863, 22742859, 23299027, 23357300, 23671649, 24818816, 26075620, 26799199, 27525877, 28088561		★☆☆☆☆ Found in Text Mining only
Coronary Stenosis	Coronary stenosis	Pubtator	30910844, 37669998	Associate	★☆☆☆☆ Found in Text Mining only
Corpus Luteum Cyst	Corpus Luteum Cyst	CTD_human_DG	21239663		★☆☆☆☆ Found in Text Mining only
Critical Illness	Critical illness	Pubtator	25880845	Associate	★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn disease	Pubtator	10517905, 14656710, 15090455, 16519819, 18832525, 19022976, 19039087, 19230040, 22412931, 22457781, 23300802, 24918323, 24945726, 24971461, 25993687, 34629811, 37567009	Associate	★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn Disease	BEFREE	11385576, 16804398, 17124531, 17600378, 18716880, 18832525, 22828805, 24971461, 26084578, 30254052, 9928378		★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn disease	Pubtator	11923606, 24971461, 29182760, 9616307	Stimulate	★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn Disease	GWASCAT_DG	26974007		★☆☆☆☆ Found in Text Mining only
Cutaneous Melanoma	Melanoma	BEFREE	27145040		★☆☆☆☆ Found in Text Mining only
Cystic Fibrosis	Cystic fibrosis	Pubtator	10433940, 11337375, 11591888, 12388360, 12507912, 12762338, 15963954, 17210769, 19460784, 22772035, 27286825, 31118097, 31803183, 33031374	Associate	★☆☆☆☆ Found in Text Mining only
Cystic Fibrosis	Cystic fibrosis	Pubtator	15516493, 15661927, 15964894	Stimulate	★☆☆☆☆ Found in Text Mining only
Cystic Fibrosis	Cystic Fibrosis	BEFREE	26209880		★☆☆☆☆ Found in Text Mining only
Cystinosis	Cystinosis	Pubtator	18325349	Associate	★☆☆☆☆ Found in Text Mining only
Cystitis	Cystitis	Pubtator	25369740	Stimulate	★☆☆☆☆ Found in Text Mining only
Deep Vein Thrombosis	Thrombosis	BEFREE	19095643, 31463646		★☆☆☆☆ Found in Text Mining only
deficiency of adenosine deaminase 2	Adenosine deaminase 2 deficiency	Pubtator	31015188	Associate	★☆☆☆☆ Found in Text Mining only
Degenerative polyarthritis	Arthritis	LHGDN	18050214		★☆☆☆☆ Found in Text Mining only
Degenerative polyarthritis	Arthritis	BEFREE	20822710, 28482921, 30057417, 30316071		★☆☆☆☆ Found in Text Mining only
Dementia	Dementia	Pubtator	10229115	Associate	★☆☆☆☆ Found in Text Mining only
Depressive Disorder	Major depressive disorder	Pubtator	17927689, 23512358, 37057209	Associate	★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	BEFREE	28078988		★☆☆☆☆ Found in Text Mining only
Depressive Disorder	Major depressive disorder	Pubtator	32247915	Stimulate	★☆☆☆☆ Found in Text Mining only
Dermatitis Atopic	Atopic dermatitis	Pubtator	21716324, 28713916, 35576187, 37166084	Associate	★☆☆☆☆ Found in Text Mining only
Dermatitis Atopic	Atopic dermatitis	Pubtator	34678092	Stimulate	★☆☆☆☆ Found in Text Mining only
Dermatitis, Atopic	Dermatitis	BEFREE	17117949, 30704333		★☆☆☆☆ Found in Text Mining only
Dermatomyositis	Dermatomyositis	Pubtator	34997119	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	11607785, 29669934, 30581781, 30821520		★☆☆☆☆ Found in Text Mining only
Diabetes Gestational	Gestational diabetes	Pubtator	27340831, 28846666, 32434530, 33019392	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes mellitus	Pubtator	10829018, 12388107, 17107852, 19747262, 21846802, 28739185, 31002156, 37104866, 37406987, 39848169	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	11607785, 17002901, 28367848, 29669934, 30581781, 30821520		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes mellitus	Pubtator	14976218, 30718683, 34494136	Stimulate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 1	Diabetes mellitus, type 1	Pubtator	28607106, 32221364	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	15941782, 21931634, 23110196, 25368101, 29641741, 31803180, 32041280, 32470060, 33164551, 33272295, 33562405, 33684886, 35032412, 35046895, 36462601, 36476775, 37047308	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	26709083, 27904654, 34494136, 36139069	Stimulate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	29509263	Inhibit	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	BEFREE	11607785, 12424626, 17318773, 27503178		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	17002901, 23337395, 25189908, 25368101, 25880845, 29601852, 31275749		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	CTD_human_DG	17107852		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetic Angiopathies	Diabetic angiopathies	Pubtator	14504138	Associate	★☆☆☆☆ Found in Text Mining only
Diabetic Foot	Diabetic foot	Pubtator	34474187	Associate	★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathies	Diabetic neuropathy	Pubtator	18325349, 27069916, 38115276, 39511608	Associate	★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathy	Diabetic Nephropathy	BEFREE	17065335, 29770444		★☆☆☆☆ Found in Text Mining only
Diabetic Retinopathy	Diabetic Retinopathy	LHGDN	12743697		★☆☆☆☆ Found in Text Mining only
Diabetic Retinopathy	Diabetic retinopathy	Pubtator	14737065, 29626212, 29853786, 31298304, 35196182	Associate	★☆☆☆☆ Found in Text Mining only
Diabetic Retinopathy	Diabetic Retinopathy	BEFREE	28465656, 31816325		★☆☆☆☆ Found in Text Mining only
Diastrophic dysplasia	Diastrophic dysplasia	Pubtator	24818816, 36317060, 37669998	Associate	★☆☆☆☆ Found in Text Mining only
Diffuse Large B-Cell Lymphoma	Diffuse Lymphoma	BEFREE	15870177, 18189332, 21902578, 25200074, 25359525, 28281555, 28368397, 30941572		★☆☆☆☆ Found in Text Mining only
Disorder of eye	Disorder Of Eye	BEFREE	24956560		★☆☆☆☆ Found in Text Mining only
dowling-degos disease	Dowling-Degos Disease	BEFREE	30717434		★☆☆☆☆ Found in Text Mining only
Down Syndrome	Down Syndrome	BEFREE	23830204		★☆☆☆☆ Found in Text Mining only
Down Syndrome	Down syndrome	Pubtator	33633844	Associate	★☆☆☆☆ Found in Text Mining only
Dry Eye Syndromes	Dry eye syndrome	Pubtator	22025895, 36361504	Associate	★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	BEFREE	23596138		★☆☆☆☆ Found in Text Mining only
Dyskinesias	Dyskinesia	Pubtator	20610663, 30763763	Associate	★☆☆☆☆ Found in Text Mining only
Dyslipidemias	Dyslipidemias	Pubtator	38508990	Associate	★☆☆☆☆ Found in Text Mining only
Ectodermal Dysplasia	Ectodermal dysplasia	Pubtator	12651765, 15337789, 18523147, 20652730, 21309033, 35741818, 36292785	Associate	★☆☆☆☆ Found in Text Mining only
Ectodermal Dysplasia	Ectodermal Dysplasia	LHGDN	18523147		★☆☆☆☆ Found in Text Mining only
Ectodermal Dysplasia	Ectodermal dysplasia	Pubtator	23563313	Inhibit	★☆☆☆☆ Found in Text Mining only
Ectodermal Dysplasia 1 Anhidrotic	Ectodermal dysplasia	Pubtator	32176048	Stimulate	★☆☆☆☆ Found in Text Mining only
Ectodermal Dysplasia 1 Anhidrotic	Ectodermal dysplasia	Pubtator	36448232	Associate	★☆☆☆☆ Found in Text Mining only
Ectodermal Dysplasia Anhidrotic with Immunodeficiency Osteopetrosis and Lymphedema	Anhidrotic ectodermal dysplasia with immunodeficiency, osteopetrosis, and lymphedema	Pubtator	14523047	Associate	★☆☆☆☆ Found in Text Mining only
Ectodermal dysplasia hypohidrotic with immune deficiency	Ectodermal dysplasia	Pubtator	18412279, 22156202, 28629746	Associate	★☆☆☆☆ Found in Text Mining only
Ectodermal dysplasia, hypohidrotic, with immune deficiency	Ectodermal Dysplasia	BEFREE	18523147		★☆☆☆☆ Found in Text Mining only
Eczema	Eczema	BEFREE	17117949, 30704333		★☆☆☆☆ Found in Text Mining only
Eczema	Eczema	GWASCAT_DG	30595370		★☆☆☆☆ Found in Text Mining only
Edema	Edema	Pubtator	35260880	Associate	★☆☆☆☆ Found in Text Mining only
Encephalitis	Encephalitis	Pubtator	30303592	Associate	★☆☆☆☆ Found in Text Mining only
Encephalomyelitis Acute Disseminated	Acute disseminated encephalomyelitis	Pubtator	33597947	Stimulate	★☆☆☆☆ Found in Text Mining only
Endocrine System Diseases	Endocrine system disease	Pubtator	24564526, 28794470	Associate	★☆☆☆☆ Found in Text Mining only
Endometrial Carcinoma	Endometrial carcinoma	BEFREE	22711307, 26293665		★☆☆☆☆ Found in Text Mining only
Endometrial Hyperplasia	Endometrial hyperplasia	Pubtator	12237915	Associate	★☆☆☆☆ Found in Text Mining only
Endometrial Neoplasms	Endometrial neoplasm	Pubtator	15016316, 16735506, 21739232, 22640183, 24042437, 24296733, 32319602, 34039951, 35404759, 36601599, 37233761, 37917013	Associate	★☆☆☆☆ Found in Text Mining only
Endometrial Neoplasms	Endometrial Neoplasms	LHGDN	17704737		★☆☆☆☆ Found in Text Mining only
Endometrioma	Endometrioma	BEFREE	31714804		★☆☆☆☆ Found in Text Mining only
Endometriosis	Endometriosis	BEFREE	20218898, 22902396, 31714804		★☆☆☆☆ Found in Text Mining only
Endometriosis	Endometriosis	Pubtator	24966899, 25500022, 30259980, 31173276, 31551156, 32311852, 32626910, 34266426, 36339397, 37389684, 37582772	Associate	★☆☆☆☆ Found in Text Mining only
Enterocolitis Necrotizing	Enterocolitis	Pubtator	36629694, 39342173	Associate	★☆☆☆☆ Found in Text Mining only
Eosinophilia	Eosinophilia	Pubtator	10666192, 12067303	Associate	★☆☆☆☆ Found in Text Mining only
Eosinophilic Esophagitis	Eosinophilia	Pubtator	26992000	Associate	★☆☆☆☆ Found in Text Mining only
Ependymoma	Ependymoma	BEFREE	29354850		★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	BEFREE	28742194		★☆☆☆☆ Found in Text Mining only
Epilepsy Partial with Variable Foci	Progressive myoclonic epilepsy	Pubtator	34266426	Associate	★☆☆☆☆ Found in Text Mining only
Epilepsy Temporal Lobe	Temporal lobe epilepsy	Pubtator	22698689	Associate	★☆☆☆☆ Found in Text Mining only
Epiretinal Membrane	Epiretinal Membrane	BEFREE	12743697		★☆☆☆☆ Found in Text Mining only
Epiretinal Membrane	Epiretinal Membrane	LHGDN	12743697		★☆☆☆☆ Found in Text Mining only
Epithelial ovarian cancer	Ovarian cancer	BEFREE	23546975, 26683819, 28206956		★☆☆☆☆ Found in Text Mining only
Erythrocytosis familial, 1	Erythrocytosis	BEFREE	17952198		★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophageal neoplasm	Pubtator	19558549, 22292433, 22919244, 24854841, 26662448, 26681028, 27072265, 27893424, 28132116, 28832500, 30450849, 30681987, 31110076, 31324733, 32398095, 35879265, 36633144, 37286356	Associate	★☆☆☆☆ Found in Text Mining only
Esophageal Squamous Cell Carcinoma	Esophageal squamous cell carcinoma	Pubtator	16680372, 21939555, 24188482, 24529193, 25355139, 27689325, 27893424, 28832500, 29379981, 30207835, 30763763, 31324733, 32065218, 33374641, 33572115, 34712369, 34995801, 35417037, 36357564, 36514094, 36609391, 37268653, 37998338	Associate	★☆☆☆☆ Found in Text Mining only
Essential Hypertension	Hypertension	BEFREE	30285510		★☆☆☆☆ Found in Text Mining only
Fabry Disease	Fabry disease	Pubtator	33673551	Associate	★☆☆☆☆ Found in Text Mining only
Familial cylindromatosis	Familial cylindromatosis	Pubtator	16301742, 24461064, 30285829	Inhibit	★☆☆☆☆ Found in Text Mining only
Familial cylindromatosis	Familial cylindromatosis	Pubtator	24760882, 32901872	Associate	★☆☆☆☆ Found in Text Mining only
Familial erythrocytosis	Erythrocytosis	BEFREE	17952198		★☆☆☆☆ Found in Text Mining only
Familial lichen amyloidosis	Lichen amyloidosis	BEFREE	25356681		★☆☆☆☆ Found in Text Mining only
Familial Mediterranean Fever	Familial mediterranean fever	Pubtator	14514692	Associate	★☆☆☆☆ Found in Text Mining only
Familial medullary thyroid carcinoma	Thyroid cancer	Pubtator	23201134	Associate	★☆☆☆☆ Found in Text Mining only
Familial Primary Pulmonary Hypertension	Pulmonary hypertension	Pubtator	24124488	Associate	★☆☆☆☆ Found in Text Mining only
Fanconi Anemia	Fanconi anemia	Pubtator	19934314, 21912593, 9475178	Associate	★☆☆☆☆ Found in Text Mining only
Fatigue Syndrome Chronic	Fatigue syndrome	Pubtator	30791746, 37373402	Associate	★☆☆☆☆ Found in Text Mining only
Fatty Liver	Fatty liver	Pubtator	30250040, 35013040	Associate	★☆☆☆☆ Found in Text Mining only
Fatty Liver Alcoholic	Fatty liver, alcoholic	Pubtator	24997224, 27002799	Associate	★☆☆☆☆ Found in Text Mining only
Fibrodysplasia Ossificans Progressiva	Fibrodysplasia Ossificans Progressiva	BEFREE	12579020		★☆☆☆☆ Found in Text Mining only
Fibrosarcoma	Fibrosarcoma	BEFREE	17145890		★☆☆☆☆ Found in Text Mining only
Fibrosis, Liver	Liver Fibrosis	BEFREE	27321552, 29132130, 29743985		★☆☆☆☆ Found in Text Mining only
Focal cortical dysplasia of Taylor	Focal cortical dysplasia	Pubtator	36301030	Associate	★☆☆☆☆ Found in Text Mining only
Fuchs' Endothelial Dystrophy	Fuchs endothelial dystrophy	Pubtator	27403035	Associate	★☆☆☆☆ Found in Text Mining only
Gallbladder Neoplasms	Gallbladder neoplasm	Pubtator	24551272, 32633352, 36401185	Associate	★☆☆☆☆ Found in Text Mining only
Gastritis	Gastritis	LHGDN	17103034		★☆☆☆☆ Found in Text Mining only
Gastritis	Gastritis	Pubtator	27084101, 30382864, 35089437	Associate	★☆☆☆☆ Found in Text Mining only
Gastro-enteropancreatic neuroendocrine tumor	Digestive system neuroendocrine neoplasm	BEFREE	19752553		★☆☆☆☆ Found in Text Mining only
Gastroenteritis	Gastroenteritis	Pubtator	25626907	Associate	★☆☆☆☆ Found in Text Mining only
Gastroesophageal Reflux	Gastroesophageal reflux disease	Pubtator	35988839	Associate	★☆☆☆☆ Found in Text Mining only
Gastrointestinal Diseases	Gastrointestinal disease	Pubtator	21474709, 32278790, 35008842	Associate	★☆☆☆☆ Found in Text Mining only
Gastrointestinal Stromal Tumors	Gastrointestinal stromal tumor	HPO_DG			★☆☆☆☆ Found in Text Mining only
GATA2 Deficiency	Gata2 deficiency	Pubtator	16173963, 30340635	Associate	★☆☆☆☆ Found in Text Mining only
Gaucher Disease	Gaucher disease	Pubtator	32485674	Stimulate	★☆☆☆☆ Found in Text Mining only
Gestational Trophoblastic Disease	Gestational trophoblastic disease	Pubtator	28259870	Associate	★☆☆☆☆ Found in Text Mining only
Giant Cell Arteritis	Giant Cell Arteritis	BEFREE	16465659		★☆☆☆☆ Found in Text Mining only
Gingival Diseases	Gingival diseases	Pubtator	31743516, 33934404	Associate	★☆☆☆☆ Found in Text Mining only
Glaucoma	Glaucoma	LHGDN	17702576		★☆☆☆☆ Found in Text Mining only
Glaucoma	Glaucoma	Pubtator	21408173, 24452954, 26396484	Associate	★☆☆☆☆ Found in Text Mining only
Glaucoma	Glaucoma	BEFREE	31518395, 31697709		★☆☆☆☆ Found in Text Mining only
Glaucoma, Primary Open Angle	Glaucoma	BEFREE	30138396, 31306362		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	11381677, 14701753, 15328202, 15504253, 18242184, 19725919, 20669099, 21073634, 22145100, 22318540, 23538445, 23908590, 24413684, 24901050, 25215581, 25633526, 26152356, 26379193, 26940200, 27076368, 27994064, 28166199, 29016808, 29228449, 29679017, 31390836, 32060308, 32149465, 33224311, 33707466, 33864076, 34345995, 34433903, 35163067, 35368876, 35418179, 35807435, 35922651, 36007522, 36263173, 36430394, 38212807, 40133683, 40312983	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	LHGDN	17828582, 18786178		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	21245048, 24330732, 26663363, 30030559, 30450997, 30940658		★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	21245048, 26663363, 30030559, 30450997, 30940658		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	15184909, 15504253, 15611130, 17011514, 17012236, 17404102, 18320068, 18708058, 19037095, 19423540, 20035051, 20157762, 21220502, 21279667, 22093097, 22318540, 22509977, 22593207, 22745752, 22967049, 22984526, 23247627, 23792158, 23958055, 23967279, 24286317, 24879377, 25252846, 25661319, 26245897, 26559543, 27052952, 27880937, 28534933, 28849217, 29333957, 29480969, 30283098, 30740906, 30955240, 31240814, 31319814, 31889095, 33368968, 33837625, 33864076, 34341417, 34866280, 35418179, 35723030, 35848940, 35879762, 35879775, 36778125, 36961398, 37087499, 37452092, 37914353, 38290591, 40604866, 40704619	Associate	★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	LHGDN	18316612, 18615578		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	18327814, 18779315	Stimulate	★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	22810421, 2377285, 28777431, 28919779, 30030559, 30450997, 30839135		★☆☆☆☆ Found in Text Mining only
Gliosarcoma	Gliosarcoma	Pubtator	28193280	Associate	★☆☆☆☆ Found in Text Mining only
Glomerulonephritis IGA	Iga nephropathy	Pubtator	19037255, 31974601	Associate	★☆☆☆☆ Found in Text Mining only
Glomerulonephritis Membranous	Membranous glomerulonephritis	Pubtator	35477557, 37960769	Associate	★☆☆☆☆ Found in Text Mining only
Glucocorticoid Receptor Deficiency	Glucocorticoid receptor deficiency/resistance	Pubtator	16380507	Inhibit	★☆☆☆☆ Found in Text Mining only
Graft vs Host Disease	Graft-versus-host disease	Pubtator	19019947, 32818226, 36470572	Associate	★☆☆☆☆ Found in Text Mining only
Granulomatous Disease Chronic	Granulomatous disease	Pubtator	18523147	Associate	★☆☆☆☆ Found in Text Mining only
Graves Disease	Graves disease	Pubtator	16519819, 17348243, 23717583	Associate	★☆☆☆☆ Found in Text Mining only
Graves Disease	Graves Disease	BEFREE	17690684, 24956560, 27929668		★☆☆☆☆ Found in Text Mining only
Graves Ophthalmopathy	Graves ophthalmopathy	Pubtator	23092922, 33488522, 33658982, 33886620	Associate	★☆☆☆☆ Found in Text Mining only
Growth Disorders	Growth disorder	Pubtator	37600787	Associate	★☆☆☆☆ Found in Text Mining only
Hashimoto Disease	Hashimoto Disease	BEFREE	24703107		★☆☆☆☆ Found in Text Mining only
Hashimoto Disease	Hashimoto disease	Pubtator	35720300	Associate	★☆☆☆☆ Found in Text Mining only
Head and Neck Neoplasms	Head and neck neoplasm	Pubtator	18334025, 22058147, 23455325, 25331947, 26895469, 27686740, 29921694, 31624067, 35634245, 35725478, 35838554	Associate	★☆☆☆☆ Found in Text Mining only
Headache	Headache	Pubtator	36332842	Associate	★☆☆☆☆ Found in Text Mining only
Hearing Loss	Hearing loss	Pubtator	25397881, 32553077	Associate	★☆☆☆☆ Found in Text Mining only
Hearing Loss Sensorineural	Hearing loss	Pubtator	25397881	Associate	★☆☆☆☆ Found in Text Mining only
Hearing Loss Sensorineural	Hearing loss	Pubtator	32553077	Stimulate	★☆☆☆☆ Found in Text Mining only
Heart Diseases	Heart disease	Pubtator	12821258, 14960579, 27226520, 35147204, 35212385, 36958170	Associate	★☆☆☆☆ Found in Text Mining only
Heart Failure	Heart failure	Pubtator	12932609, 16825515	Stimulate	★☆☆☆☆ Found in Text Mining only
Heart Failure	Heart failure	Pubtator	19480714, 20534156, 35727093	Associate	★☆☆☆☆ Found in Text Mining only
Heart failure	Heart Failure	BEFREE	20534156, 23357300, 23640436, 28367848		★☆☆☆☆ Found in Text Mining only
Heart Valve Diseases	Heart valve disease	Pubtator	19169931	Stimulate	★☆☆☆☆ Found in Text Mining only
Heart Valve Diseases	Heart valve disease	Pubtator	36958298	Associate	★☆☆☆☆ Found in Text Mining only
Hemangioma capillary infantile	Capillary infantile hemangioma	Pubtator	20872175, 32945470	Associate	★☆☆☆☆ Found in Text Mining only
Hematologic Neoplasms	Hematologic Neoplasms	LHGDN	16498458		★☆☆☆☆ Found in Text Mining only
Hematologic Neoplasms	Hematologic neoplasm	Pubtator	23237561	Associate	★☆☆☆☆ Found in Text Mining only
Hematologic Neoplasms	Hematologic Neoplasms	BEFREE	25130432		★☆☆☆☆ Found in Text Mining only
Hematopoietic Neoplasms	Hematopoietic Neoplasms	BEFREE	14647412		★☆☆☆☆ Found in Text Mining only
Hemoglobinopathies	Hemoglobinopathy	BEFREE	19295544		★☆☆☆☆ Found in Text Mining only
Hemolytic Uremic Syndrome	Hemolytic uremic syndrome	Pubtator	12675842	Stimulate	★☆☆☆☆ Found in Text Mining only
Hemorrhage	Hemorrhage	Pubtator	19757243	Associate	★☆☆☆☆ Found in Text Mining only
Hepatitis Alcoholic	Alcoholic hepatitis	Pubtator	24997224	Associate	★☆☆☆☆ Found in Text Mining only
Hepatitis B	Hepatitis b	Pubtator	18315953	Stimulate	★☆☆☆☆ Found in Text Mining only
Hepatitis B	Hepatitis b	Pubtator	19442295, 25223483, 26871511	Associate	★☆☆☆☆ Found in Text Mining only
Hepatitis B Chronic	Hepatitis b	Pubtator	24168509	Associate	★☆☆☆☆ Found in Text Mining only
Hepatitis C	Hepatitis c	Pubtator	11679977	Stimulate	★☆☆☆☆ Found in Text Mining only
Hepatitis C	Hepatitis c	Pubtator	12909638, 24116050, 26382585	Associate	★☆☆☆☆ Found in Text Mining only
Hepatitis C Chronic	Hepatitis c	Pubtator	11679977	Stimulate	★☆☆☆☆ Found in Text Mining only
Hepatolenticular Degeneration	Hepatolenticular degeneration	Pubtator	30140708	Associate	★☆☆☆☆ Found in Text Mining only
Hereditary Breast and Ovarian Cancer Syndrome	Hereditary breast and ovarian cancer syndrome	Pubtator	14662759, 16002723, 20067776, 35937947, 36273585	Associate	★☆☆☆☆ Found in Text Mining only
High Grade Lymphoma (neoplasm)	High Grade Lymphoma	BEFREE	2569301		★☆☆☆☆ Found in Text Mining only
Hirschsprung Disease	Hirschsprung disease	Pubtator	39199380	Associate	★☆☆☆☆ Found in Text Mining only
Hodgkin Disease	Hodgkin disease	Pubtator	10556199, 10637284, 10666192, 11313274, 12145210, 12208876, 12393683, 12456498, 12511414, 16123212, 17185461, 18296629, 19223558, 19380639, 19648161, 21385932, 22469134, 25232062, 26105086, 26988706, 27538486, 27870927, 29693141, 30696620, 33684151, 36288644, 39322061, 8630409, 8639794	Associate	★☆☆☆☆ Found in Text Mining only
Hodgkin Disease	Hodgkin Disease	LHGDN	12145210		★☆☆☆☆ Found in Text Mining only
Hodgkin Disease	Hodgkin Disease	BEFREE	19223558, 2569301, 26988706, 30941572, 8630409		★☆☆☆☆ Found in Text Mining only
Homocystinuria	Homocystinuria	Pubtator	31242583	Associate	★☆☆☆☆ Found in Text Mining only
Huntington Disease	Huntington disease	Pubtator	24459107, 26823290, 28017799	Associate	★☆☆☆☆ Found in Text Mining only
Hyaline Membrane Disease	Hyaline Membrane Disease	LHGDN	15746262		★☆☆☆☆ Found in Text Mining only
Hydronephrosis	Hydronephrosis	Pubtator	22102915	Associate	★☆☆☆☆ Found in Text Mining only
Hyperglycemia	Hyperglycemia	LHGDN	15486815		★☆☆☆☆ Found in Text Mining only
Hyperglycemia	Hyperglycemia	Pubtator	23311470, 25610879, 33038372	Stimulate	★☆☆☆☆ Found in Text Mining only
Hyperglycemia	Hyperglycemia	BEFREE	29195627, 29858739, 30151392, 9576755		★☆☆☆☆ Found in Text Mining only
Hyperglycemia	Hyperglycemia	Pubtator	31862399	Associate	★☆☆☆☆ Found in Text Mining only
Hyperlipidemias	Hyperlipidemia	Pubtator	15585759	Stimulate	★☆☆☆☆ Found in Text Mining only
Hyperlysinemias	Hyperlipidemia	Pubtator	34068442	Stimulate	★☆☆☆☆ Found in Text Mining only
Hyperoxaluria	Hyperoxaluria	CTD_human_DG	16284884		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hyperoxia	Hyperoxia	Pubtator	10666108	Associate	★☆☆☆☆ Found in Text Mining only
Hyperoxia	Hyperoxia	Pubtator	14617515	Stimulate	★☆☆☆☆ Found in Text Mining only
Hyperplasia	Hyperplasia	Pubtator	40141137	Associate	★☆☆☆☆ Found in Text Mining only
Hypersensitivity Delayed	Hypersensitivity	Pubtator	35784294	Associate	★☆☆☆☆ Found in Text Mining only
Hypersensitivity Immediate	Hypersensitivity	Pubtator	14966904	Associate	★☆☆☆☆ Found in Text Mining only
Hypertension	Hypertension	Pubtator	17644577, 18235092, 28397867, 36317060	Associate	★☆☆☆☆ Found in Text Mining only
Hypertension	Hypertension	Pubtator	20014193	Stimulate	★☆☆☆☆ Found in Text Mining only
Hypertension Portal	Portal hypertension	Pubtator	31934265	Associate	★☆☆☆☆ Found in Text Mining only
Hypertension Pulmonary	Pulmonary hypertension	Pubtator	12082102	Associate	★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	BEFREE	28455674		★☆☆☆☆ Found in Text Mining only
Hyperthyroidism	Hyperthyroidism	Pubtator	32575434	Associate	★☆☆☆☆ Found in Text Mining only
Hyperuricemia	Hyperuricemia	Pubtator	38508990	Associate	★☆☆☆☆ Found in Text Mining only
Hypogammaglobulinemia	Hypogammaglobulinemia	BEFREE	30063981		★☆☆☆☆ Found in Text Mining only
Hypopigmentation disorder	Hypopigmentation Disorder	BEFREE	29730385		★☆☆☆☆ Found in Text Mining only
Hypothyroidism	Hypothyroidism	GWASCAT_DG	30595370		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypoxia	Hypoxia	Pubtator	10383461, 12050157, 12482504, 17030616, 17468103, 18234850, 20157762, 21388517, 21533553, 21887310, 23799118, 24063008, 24145445, 24593195, 27245780, 29770329, 29926531, 30554401, 30659163, 33631962, 35409364, 35546067, 35784334, 37047592, 37246768, 39292770, 39343901, 8536713	Associate	★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	10487833, 14534291, 17114296, 17468103, 22984526, 24316875, 25557278, 25823824, 25861162, 26647763, 27058421, 28677369, 30468453, 30634531, 30704983, 32886165, 34089575, 36824025, 9892650	Stimulate	★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	27036044, 34240756	Inhibit	★☆☆☆☆ Found in Text Mining only
Idiopathic pulmonary arterial hypertension	Pulmonary arterial hypertension	BEFREE	29442198		★☆☆☆☆ Found in Text Mining only
Idiopathic Pulmonary Fibrosis	Idiopathic pulmonary fibrosis	Pubtator	16507902, 30619270, 33730605, 36520540	Associate	★☆☆☆☆ Found in Text Mining only
Idiopathic Pulmonary Fibrosis	Pulmonary Fibrosis	BEFREE	18635891		★☆☆☆☆ Found in Text Mining only
Idiopathic Pulmonary Fibrosis	Idiopathic pulmonary fibrosis	Pubtator	28629363	Stimulate	★☆☆☆☆ Found in Text Mining only
Immune System Diseases	Immune system disease	Pubtator	15337789, 21399862, 22509977, 23563313, 24459107, 26823290, 35486341, 38423196, 40397075	Associate	★☆☆☆☆ Found in Text Mining only
Immune thrombocytopenic purpura	Immune Thrombocytopenic Purpura	HPO_DG			★☆☆☆☆ Found in Text Mining only
IMMUNODEFICIENCY, COMMON VARIABLE, 12	Common Variable Immunodeficiency	GENOMICS_ENGLAND_DG	26279205, 29477724		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
IMMUNODEFICIENCY, COMMON VARIABLE, 12	Common Variable Immunodeficiency	CLINVAR_DG	29077208		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Immunoglobulin Deficiency, Late-Onset	Immunoglobulin Deficiency	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Immunologic Deficiency Syndromes	Immunologic Deficiency Syndromes	HPO_DG			★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	BEFREE	16262206, 29202656, 30845718, 31780341		★☆☆☆☆ Found in Text Mining only
Infantile malignant osteopetrosis	Malignant Osteopetrosis	BEFREE	31847314		★☆☆☆☆ Found in Text Mining only
Inflammatory abnormality of the eye	Inflammatory abnormality of the eye	BEFREE	28609207		★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory bowel disease	Pubtator	12003644, 15179032, 16299031, 16461776, 16803639, 17610002, 19230040, 19921217, 21245992, 24971461, 25927528, 28422189, 29307990, 31581194, 32714980, 34151668, 34758847, 36155972, 37596598, 38199515, 9616307	Associate	★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory Bowel Disease	LHGDN	12019209, 15955209		★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory Bowel Disease	BEFREE	14613970, 17170021, 17538633, 17600378, 18716880, 21155719, 22828805, 29763384		★☆☆☆☆ Found in Text Mining only
Inflammatory Breast Carcinoma	Breast Cancer	BEFREE	16172796, 16740744, 28766916		★☆☆☆☆ Found in Text Mining only
Insulin Resistance	Diabetes mellitus, type 2	Pubtator	16155293, 18633101, 19403722, 19798070, 20181789, 20739506, 25486864, 27340831, 28944847, 31396538, 34034759	Associate	★☆☆☆☆ Found in Text Mining only
Insulin Resistance	Diabetes mellitus, type 2	Pubtator	27903298	Stimulate	★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Intellectual developmental disorder	Pubtator	20004764, 22805531, 36104591	Associate	★☆☆☆☆ Found in Text Mining only
Intervertebral Disc Degeneration	Intervertebral disc disease	Pubtator	25304312, 28161709, 28427186, 29038477, 29617687, 29656141, 30468453, 30717434, 31518335, 32705171, 37928874, 38041147, 39735982, 40653514	Associate	★☆☆☆☆ Found in Text Mining only
Intervertebral disc disease	Intervertebral disc disease	Pubtator	32705171	Associate	★☆☆☆☆ Found in Text Mining only
Intestinal Diseases	Intestinal disease	Pubtator	14966904, 14977954, 15229109, 22749770, 30635407	Associate	★☆☆☆☆ Found in Text Mining only
Intestinal Perforation	Intestinal perforation	Pubtator	24945726	Associate	★☆☆☆☆ Found in Text Mining only
Intracranial Aneurysm	Intracranial Aneurysm	BEFREE	23675986, 30894565		★☆☆☆☆ Found in Text Mining only
Intracranial Aneurysm	Intracranial aneurysm	Pubtator	23675986, 23768831, 26345838, 36047894	Associate	★☆☆☆☆ Found in Text Mining only
Intracranial Embolism	Intracranial embolism	Pubtator	28460441	Associate	★☆☆☆☆ Found in Text Mining only
Intrahepatic Cholestasis of Pregnancy	Intrahepatic cholestasis of pregnancy	Pubtator	24489901	Associate	★☆☆☆☆ Found in Text Mining only
Iron Overload	Iron overload	Pubtator	25500022, 26999096, 37801989	Associate	★☆☆☆☆ Found in Text Mining only
Irritable Bowel Syndrome	Irritable bowel syndrome	Pubtator	17304351, 25927528	Associate	★☆☆☆☆ Found in Text Mining only
Ischemic stroke	Ischemic Stroke	BEFREE	29115455		★☆☆☆☆ Found in Text Mining only
Ischemic Stroke	Ischemic stroke	Pubtator	30588195	Stimulate	★☆☆☆☆ Found in Text Mining only
Ischemic Stroke	Ischemic stroke	Pubtator	38020537	Associate	★☆☆☆☆ Found in Text Mining only
Islet Cell Tumor	Islet Cell Tumor	BEFREE	19752553		★☆☆☆☆ Found in Text Mining only
Jeune syndrome	Jeune syndrome	Pubtator	24183449	Associate	★☆☆☆☆ Found in Text Mining only
Kaposi Sarcoma	Kaposi Sarcoma	BEFREE	17934524		★☆☆☆☆ Found in Text Mining only
Keratitis	Keratitis	BEFREE	17254567		★☆☆☆☆ Found in Text Mining only
Keratitis	Keratitis	Pubtator	20038977	Associate	★☆☆☆☆ Found in Text Mining only
Keratoconus	Keratoconus	Pubtator	29021606, 32886165, 33443628	Associate	★☆☆☆☆ Found in Text Mining only
Ki-1+ Anaplastic Large Cell Lymphoma	Anaplastic Lymphoma	LHGDN	16108830, 16123212		★☆☆☆☆ Found in Text Mining only
Ki-1+ Anaplastic Large Cell Lymphoma	Anaplastic Lymphoma	BEFREE	16123212, 19657361		★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney disease	Pubtator	11576350, 11698246, 18201972, 18786229, 24607031, 24755682, 28397867, 31382928	Associate	★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney Disease	BEFREE	16388709, 28315683, 28326639, 29669934, 29770444		★☆☆☆☆ Found in Text Mining only
Kidney Failure Chronic	Kidney failure	Pubtator	31382928	Associate	★☆☆☆☆ Found in Text Mining only
Kidney Failure Chronic	Kidney failure	Pubtator	38382928	Inhibit	★☆☆☆☆ Found in Text Mining only
Kidney Failure, Acute	Kidney Failure	CTD_human_DG	29286200		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Kidney Failure, Chronic	Kidney Failure	CTD_human_DG	19420110		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Kidney Failure, Chronic	Kidney Failure	BEFREE	26794449		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Kidney Neoplasms	Kidney neoplasm	Pubtator	15004148	Inhibit	★☆☆☆☆ Found in Text Mining only
Kidney Neoplasms	Kidney neoplasm	Pubtator	19920820, 23981302, 33059651, 35857125	Associate	★☆☆☆☆ Found in Text Mining only
Kidney Neoplasms	Kidney neoplasm	Pubtator	33336728	Stimulate	★☆☆☆☆ Found in Text Mining only
Laryngeal Neoplasms	Laryngeal neoplasm	Pubtator	20164024, 28409156, 29573243	Associate	★☆☆☆☆ Found in Text Mining only
Latent Autoimmune Diabetes in Adults	Latent autoimmune diabetes in adults	Pubtator	33391182	Associate	★☆☆☆☆ Found in Text Mining only
Leiomyoma	Leiomyoma	Pubtator	24755559, 26453978, 26617709	Associate	★☆☆☆☆ Found in Text Mining only
Leishmaniasis	Leishmaniasis	Pubtator	40281485	Associate	★☆☆☆☆ Found in Text Mining only
Leprosy	Leprosy	Pubtator	23784377, 26367014	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia	Leukemia	Pubtator	10090947, 10390192, 10783388, 11588023, 12176906, 12244143, 15328418, 15964800, 16513841, 17673311, 17920756, 18055871, 18952893, 19447221, 19962318, 20065354, 20346213, 20354190, 20385359, 20864535, 22248096, 23181557, 23752607, 24393203, 25520128, 25526629, 25913414, 27114368, 27338827, 28596424, 28832545, 29699990, 30787019, 30810468, 31163672, 32664684, 33092263, 33127669, 35366954, 9510476, 9822350	Associate	★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	BEFREE	14647412, 23593011, 8485048		★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	LHGDN	15725474, 15964800, 17577783		★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid	Myeloid leukemia	Pubtator	11069054, 20385359, 20576605, 25752509, 29651431, 33439746	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	10515888, 11588023, 16223780, 17431130, 17920756, 18083845, 18202225, 22096027, 23077289, 23416210, 23467026, 23752607, 25034783, 27098354, 27577048, 28008177, 28362429, 31114983, 31163672, 32664684, 33985510, 34220318, 34719869, 34894858, 35240791, 35840666, 35986311, 36376859, 37057209, 37367950, 39342176, 39940906	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	11698483, 19034332	Inhibit	★☆☆☆☆ Found in Text Mining only
Leukemia Myelomonocytic Juvenile	Myelomonocytic leukemia	Pubtator	9185524	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia Promyelocytic Acute	Promyelocytic leukemia	Pubtator	16554308, 22707304, 26022158, 30237268, 9566710	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	16254192, 21346255, 26919710		★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	LHGDN	18670883		★☆☆☆☆ Found in Text Mining only
Leukemia, T-Cell	T-cell leukemia	LHGDN	15650163		★☆☆☆☆ Found in Text Mining only
Leukemia, T-Cell	T-cell leukemia	BEFREE	18425496		★☆☆☆☆ Found in Text Mining only
Lip and Oral Cavity Carcinoma	Lip and Oral Cavity Carcinoma	BEFREE	16998793, 22509384, 29635862		★☆☆☆☆ Found in Text Mining only
Liposarcoma	Liposarcoma	Pubtator	11278855	Stimulate	★☆☆☆☆ Found in Text Mining only
Liposarcoma	Liposarcoma	Pubtator	26219418	Associate	★☆☆☆☆ Found in Text Mining only
Liposarcoma Myxoid	Liposarcoma	Pubtator	20863376	Associate	★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	11099488, 17711513, 19670424, 19797428, 22843047, 23457512, 24065232, 27609479, 27821810, 28356024		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	LHGDN	12365017, 12883671, 14760757, 15217951, 15991283		★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis	Liver cirrhosis	Pubtator	33923467, 34651657, 36274317, 37268177	Associate	★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis Biliary	Liver cirrhosis	Pubtator	23000144, 27668889, 28425483, 30528300, 35838934	Associate	★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis, Alcoholic	Alcoholic Liver Cirrhosis	BEFREE	19673747		★☆☆☆☆ Found in Text Mining only
Liver Diseases	Liver disease	Pubtator	12909638, 15349911, 23483900	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Liver Failure	Liver failure	Pubtator	15723090, 25486864, 30250040	Associate	★☆☆☆☆ Found in Text Mining only
Liver Failure Acute	Liver failure	Pubtator	17660862	Stimulate	★☆☆☆☆ Found in Text Mining only
Liver Failure Acute	Liver failure	Pubtator	37506138	Associate	★☆☆☆☆ Found in Text Mining only
Liver Neoplasms	Liver neoplasm	Pubtator	27487029	Associate	★☆☆☆☆ Found in Text Mining only
Lung Diseases	Lung disease	Pubtator	14764095, 19422389, 22722901, 24487386, 32457348, 32823550, 32883951, 33810600	Associate	★☆☆☆☆ Found in Text Mining only
Lung diseases	Lung Diseases	BEFREE	28990531		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	10823417, 18424438, 18523266, 18636537, 19284764, 20534110, 20977779, 21430781, 21768098, 21795997, 22549160, 22693540, 22753015, 22754361, 22898898, 23044494, 23715780, 23725135, 23776433, 23801886, 23902785, 24173614, 24913497, 24988892, 25068924, 25514196, 25843712, 26035432, 26307684, 26563375, 27091996, 27127879, 27924828, 28251885, 28350337, 28467781, 29353287, 29534536, 30016782, 30396235, 31311932, 31817720, 33376719, 33786615, 34427969, 34552063, 34939468, 34953057, 35246017, 36541122, 36823149, 37056937, 37189139, 37443143, 37901456, 38058058, 38184997	Associate	★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung Neoplasms	LHGDN	16424045, 16757480, 16820889, 18008176, 18636537		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	23044494, 28350008	Inhibit	★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung Neoplasms	BEFREE	26300007		★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus	Lupus Erythematosus	BEFREE	15162435		★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus Systemic	Systemic lupus erythematosus	Pubtator	16519819, 20506525, 21905002, 21961021, 22952582, 24871463, 29367719, 30466076, 32334614, 33108347, 35120571, 35864995, 36177494, 36586539, 37001433, 37072752, 40131776	Associate	★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus Systemic	Systemic lupus erythematosus	Pubtator	22897816	Stimulate	★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Discoid	Lupus Erythematosus	BEFREE	15162435		★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Systemic	Lupus Erythematosus	BEFREE	15162435, 15713218, 22013908, 22235006, 23618653, 27755947		★☆☆☆☆ Found in Text Mining only
Lupus Nephritis	Lupus nephritis	Pubtator	18285351	Stimulate	★☆☆☆☆ Found in Text Mining only
Lupus Nephritis	Lupus nephritis	Pubtator	26110642, 28338190, 35074933, 37099456, 37139617	Associate	★☆☆☆☆ Found in Text Mining only
Lupus Nephritis	Lupus Nephritis	BEFREE	29589214		★☆☆☆☆ Found in Text Mining only
Lupus Vulgaris	Lupus Vulgaris	BEFREE	15162435		★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	18254976, 20009901, 21939555, 26436510, 28074045, 31737131, 31870117, 36033828	Associate	★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	23640294, 36799490	Stimulate	★☆☆☆☆ Found in Text Mining only
Lymphedema	Lymphedema	Pubtator	28837798	Associate	★☆☆☆☆ Found in Text Mining only
Lymphohistiocytosis Hemophagocytic	Hemophagocytic lymphohistiocytosis	Pubtator	37401643	Associate	★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	BEFREE	10713675, 14647412, 15940251, 16751281, 1677032, 22382892, 2569301, 26097183, 26598978, 26740054, 30360939, 30941572, 31697816		★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	Pubtator	11262391, 11825564, 12406882, 15190178, 15198731, 15894263, 15979856, 16099873, 16497967, 16751281, 16891304, 18230756, 19118383, 19608751, 20799731, 21041452, 21179087, 21881048, 21987722, 22393418, 22808296, 22966169, 24231431, 25107905, 25200074, 25384343, 25477070, 26518771, 26711259, 26884334, 26884335, 26988706, 27338827, 28418119, 29666362, 29693141, 30227305, 30381301, 30723112, 30787019, 31803180, 32085513, 33025009, 34778802, 36881367, 37298119, 37329186, 38423196, 39322061, 39375391, 8562956	Associate	★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	LHGDN	12032828, 15190178, 15940251, 16497967, 18006812		★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	Pubtator	36923307	Stimulate	★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Lymphoma Follicular	Lymphoma	Pubtator	18606651, 18990758, 19471018, 24231431, 24357726, 24362818, 24832791	Associate	★☆☆☆☆ Found in Text Mining only
Lymphoma Primary Cutaneous Anaplastic Large Cell	Primary cutaneous anaplastic large cell lymphoma	Pubtator	19890350	Associate	★☆☆☆☆ Found in Text Mining only
Lymphoma, Non-Hodgkin	Non-Hodgkin lymphoma	BEFREE	18990758, 19390683, 8289506		★☆☆☆☆ Found in Text Mining only
Lymphoma, Non-Hodgkin, Familial	Lymphoma	BEFREE	19390683		★☆☆☆☆ Found in Text Mining only
Lymphoma, T-Cell, Cutaneous	Lymphoma	BEFREE	16219794		★☆☆☆☆ Found in Text Mining only
Lymphoma, T-Cell, Cutaneous	Lymphoma	LHGDN	16219794, 17555878		★☆☆☆☆ Found in Text Mining only
Lymphopenia	Lymphopenia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Lymphoproliferative Disorders	Lymphoproliferative syndrome	Pubtator	14521460, 21273489, 21871426	Associate	★☆☆☆☆ Found in Text Mining only
Lymphoproliferative Disorders	Lymphoproliferative Disorder	BEFREE	29403474		★☆☆☆☆ Found in Text Mining only
Macular Degeneration	Macular degeneration	Pubtator	34101738, 34445430	Associate	★☆☆☆☆ Found in Text Mining only
Macular Degeneration	Macular degeneration	Pubtator	34911940	Stimulate	★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	15481028, 17369819, 19668231, 22581827, 24386318, 25559835, 25974963, 26563370, 26835711, 27105503, 28412955, 29423058, 29631685, 31297336, 31382678, 31450925, 31556319, 31556759		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of endometrium	Endometrial Cancer	BEFREE	22711307		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of liver	Liver Cancer	BEFREE	24578542		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	21150337, 21464588, 22615840, 22941571, 23044494, 23322360, 23333461, 25917613, 26300007, 26563375		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of mouth	Malignant neoplasm of mouth	BEFREE	16998793, 22509384, 29635862		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	17145890, 21138333, 25659662, 26345753, 27484466, 28008951, 28206956, 30185771		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	17896154, 17921715, 25611381, 28801636		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	12569576, 12727841, 14689584, 19446741, 22895549, 23880210, 24185914, 25749044, 26068031, 26450901, 26484607, 26788504		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of salivary gland	Malignant neoplasm of salivary gland	BEFREE	23603344		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	11948459, 1913456, 19231580, 19509001, 22776619, 23824692, 24101096, 25411415, 25526460, 25888547, 26801246, 28670959, 29483646, 29562203, 30035371, 31155951		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of thyroid	Thyroid cancer	BEFREE	18768801		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of urinary bladder	Urinary bladder cancer	BEFREE	19778281, 23977085, 26484607, 30713476, 31200745		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	12527907, 14676835, 16254192, 16314843, 16401681, 16931583, 16960866, 17011549, 17047486, 17897020, 18503581, 19050705, 1913456, 19347278, 19892748, 21166501, 21245048, 23977085, 24370206, 24532467, 24612742, 24707489, 24827594, 24935396, 25130432, 25190017, 25404639, 25454347, 25705893, 25917613, 26484607, 26563375, 26663363, 26835711, 27145040, 27443693, 27454293, 27463002, 27484466, 27557627, 27681103, 27831648, 27989859, 28039461, 28181923, 28234980, 28487955, 28549179, 28646148, 28670959, 28919779, 29473096, 29588321, 30014762, 30171605, 30179143, 30205516, 30450997, 30996804, 8756377		★☆☆☆☆ Found in Text Mining only
Malignant Squamous Cell Neoplasm	Neoplasm	BEFREE	15365549		★☆☆☆☆ Found in Text Mining only
Malignant tumor of cervix	Cervical Tumor	BEFREE	17098279, 29484114, 31128029		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	CTD_human_DG	19028472, 20715105		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	19509257, 21129206, 23002237		★☆☆☆☆ Found in Text Mining only
Malnutrition	Malnutrition	Pubtator	21818634	Associate	★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	BEFREE	10713699, 16740744		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	LHGDN	12471041, 12867284, 15044484, 15056731, 15688415, 15830705, 16740744, 17409218, 17620428, 17638883, 18031796, 18158619, 18234964, 18248671, 18316610, 18505918, 18804908		★☆☆☆☆ Found in Text Mining only
Mantle cell lymphoma	Mantle Cell Lymphoma	BEFREE	26354285		★☆☆☆☆ Found in Text Mining only
Marfan Syndrome	Marfan syndrome	Pubtator	31147528, 40240926	Associate	★☆☆☆☆ Found in Text Mining only
Mastocytosis Systemic	Systemic mastocytosis	Pubtator	15561889	Associate	★☆☆☆☆ Found in Text Mining only
Mediastinal (Thymic) Large B-Cell Lymphoma	B-Cell Lymphoma	BEFREE	15870177		★☆☆☆☆ Found in Text Mining only
Medullary carcinoma of thyroid	Megalencephaly, Polymicrogyria, Polydactyly, Hydrocephalus Syndrome	BEFREE	28487941		★☆☆☆☆ Found in Text Mining only
Medulloblastoma	Medulloblastoma	Pubtator	21364648, 24997224	Associate	★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	10353757, 10504441, 11171586, 11557318, 11773061, 12020348, 12485424, 12527912, 15016307, 16675961, 17001349, 17070520, 17141217, 17352234, 17395010, 17496784, 18222423, 18347013, 18668140, 19934274, 20302635, 20590608, 20952589, 21072003, 21268068, 21338484, 21418516, 21738696, 22022384, 22532603, 23837445, 24170218, 24466036, 24771846, 24782645, 25000190, 25046326, 25793618, 25844720, 26552704, 26578344, 26582795, 27007357, 27922666, 28067893, 28075446, 28389511, 28627651, 28829835, 29048609, 29212029, 30104528, 30157799, 30997898, 31485613, 32466509, 33051240, 33573155, 35008862, 35043517, 35580697	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Melanoma	Pubtator	11775058, 11997235, 22095230	Stimulate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
melanoma	Melanoma	LHGDN	15016307, 16951147, 17276726, 17492467, 17496784, 18668140, 18942706		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
melanoma	Melanoma	BEFREE	17611626, 19574933, 22131135, 26364600, 27145040, 31175545		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma Cutaneous Malignant	Melanoma	Pubtator	19626699, 28075446, 28389511, 37843471	Associate	★☆☆☆☆ Found in Text Mining only
Memory Disorders	Memory disorders	Pubtator	24690380	Associate	★☆☆☆☆ Found in Text Mining only
Meniere Disease	Meniere Disease	BEFREE	25397881		★☆☆☆☆ Found in Text Mining only
Meniere Disease	Meniere disease	Pubtator	25397881	Associate	★☆☆☆☆ Found in Text Mining only
Meningioma	Meningioma	BEFREE	20406964		★☆☆☆☆ Found in Text Mining only
Meningioma	Meningioma	Pubtator	20406964, 32832554	Associate	★☆☆☆☆ Found in Text Mining only
Mental Depression	Mental Depression	BEFREE	28078988		★☆☆☆☆ Found in Text Mining only
Mental disorders	Mental Disorders	BEFREE	17014995, 29202656		★☆☆☆☆ Found in Text Mining only
Metabolic Diseases	Metabolic syndrome	Pubtator	31013288, 36557849	Associate	★☆☆☆☆ Found in Text Mining only
Metabolic Syndrome	Metabolic syndrome	Pubtator	21481180, 24358323, 38069389	Associate	★☆☆☆☆ Found in Text Mining only
Metabolic Syndrome	Metabolic syndrome	Pubtator	29067980	Stimulate	★☆☆☆☆ Found in Text Mining only
Metastatic melanoma	Metastatic Melanoma	BEFREE	22689055		★☆☆☆☆ Found in Text Mining only
Migraine Disorders	Migraine	Pubtator	32276265	Associate	★☆☆☆☆ Found in Text Mining only
Mild cognitive disorder	Cognitive disorder	BEFREE	28550252		★☆☆☆☆ Found in Text Mining only
Miscarriage	Miscarriage	BEFREE	27488439		★☆☆☆☆ Found in Text Mining only
Mitochondrial complex I deficiency	Mitochondrial complex deficiency	Pubtator	12437580	Stimulate	★☆☆☆☆ Found in Text Mining only
Mitochondrial Diseases	Mitochondrial disease	Pubtator	11073986, 21742773, 22549761, 23900080, 25772758, 28317877, 28794470, 32554850, 35364376, 35886907, 36958170	Associate	★☆☆☆☆ Found in Text Mining only
Mitral Valve Stenosis	Mitral Valve Stenosis	BEFREE	23618653		★☆☆☆☆ Found in Text Mining only
Mood Disorders	Mood Disorder	PSYGENET_DG	22312433		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mouth Neoplasms	Mouth Neoplasms	LHGDN	17354234		★☆☆☆☆ Found in Text Mining only
Mouth Neoplasms	Mouth neoplasm	Pubtator	18234965, 22509384, 23138939, 25951128, 26662963, 28155253, 29635862, 30372446, 31943292, 32519370, 35151562, 35396527, 37678860	Associate	★☆☆☆☆ Found in Text Mining only
Moyamoya Disease	Moyamoya disease	Pubtator	32139119	Associate	★☆☆☆☆ Found in Text Mining only
Mucocutaneous Lymph Node Syndrome	Kawasaki disease	Pubtator	32808647, 37773705	Associate	★☆☆☆☆ Found in Text Mining only
Mucosa-Associated Lymphoid Tissue Lymphoma	Mucosa-associated lymphoma	BEFREE	16917511, 20520640		★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	Pubtator	10216101, 11703322, 11872748, 12010810, 12393461, 12433678, 14965369, 15467434, 15498850, 16234364, 16497877, 16818641, 17164350, 17542984, 17692804, 17692805, 17785586, 18575761, 18708367, 19270264, 19734419, 19934314, 19960011, 20053756, 20371671, 20629663, 21430775, 21506956, 21799925, 21816815, 22388891, 22984542, 23063726, 23247593, 23527154, 23555623, 23896383, 24466111, 24481412, 24481661, 24755677, 25363231, 25424288, 25486864, 25613668, 25772758, 25945832, 26036313, 26282073, 26762414, 28122920, 28487543, 29020881, 29273733, 29320977, 29441489, 29654269, 29771406, 30211233, 30353128, 30387821, 30736330, 30861305, 31350562, 31799674, 31964975, 32350909, 32780537, 32977994, 34269120, 34643251, 34759347, 35604822, 35768438, 36875074, 40052893, 40135312, 8562936	Associate	★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	Pubtator	17311991, 25856582, 27016342	Stimulate	★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	LHGDN	17692805, 18931595		★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	BEFREE	19734419, 20515939, 22540426, 25363231, 26740054, 31784427		★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple sclerosis	Pubtator	10550297	Stimulate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Multiple Sclerosis	Multiple sclerosis	Pubtator	11389171, 14641910, 16519819, 18054783, 18511806, 18776589, 19398961, 22189043, 23077530, 26062845, 27278126, 30343897, 30463275, 30559390, 36725329, 38245759, 40131776	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Multiple Sclerosis	Multiple Sclerosis	LHGDN	12058256, 18776589		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Multiple Sclerosis	Multiple Sclerosis	BEFREE	23618653, 26062845, 31394128		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Muscular Atrophy Spinal	Spinal muscular atrophy	Pubtator	39325116	Associate	★☆☆☆☆ Found in Text Mining only
Muscular Dystrophy Duchenne	Duchenne muscular dystrophy	Pubtator	21842588, 27745838, 28074489, 33678513	Associate	★☆☆☆☆ Found in Text Mining only
Muscular Dystrophy, Duchenne	Duchenne Muscular Dystrophy	BEFREE	23995279		★☆☆☆☆ Found in Text Mining only
Myasthenia Gravis	Myasthenia gravis	Pubtator	23055271, 30048972, 37975358	Associate	★☆☆☆☆ Found in Text Mining only
Mycosis Fungoides	Mycosis fungoides	Pubtator	24226419	Associate	★☆☆☆☆ Found in Text Mining only
MYELODYSPLASTIC SYNDROME	Myelodysplastic Syndrome	LHGDN	18670883		★☆☆☆☆ Found in Text Mining only
Myelodysplastic Syndromes	Myelodysplastic syndrome	Pubtator	16223780, 18838202, 20472834, 23604035, 24690917, 25913414, 30315231, 36216757, 40397075	Associate	★☆☆☆☆ Found in Text Mining only
Myeloid Leukemia	Myeloid Leukemia	BEFREE	7773151		★☆☆☆☆ Found in Text Mining only
Myeloid Leukemia, Chronic	Myeloid Leukemia	BEFREE	16960866		★☆☆☆☆ Found in Text Mining only
Myeloproliferative Disorders	Myeloproliferative disorder	Pubtator	28008177	Associate	★☆☆☆☆ Found in Text Mining only
MYELOPROLIFERATIVE SYNDROME, TRANSIENT	Myeloproliferative disorder	BEFREE	11294923, 29588321		★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial Infarction	BEFREE	19168865, 20304615, 23357300		★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial infarction	Pubtator	29407886, 33177541, 33879068	Associate	★☆☆☆☆ Found in Text Mining only
Myocardial Ischemia	Myocardial ischemia	Pubtator	33191336	Associate	★☆☆☆☆ Found in Text Mining only
Myocarditis	Myocarditis	Pubtator	34414385	Associate	★☆☆☆☆ Found in Text Mining only
Myofibrillar Myopathy	Myofibrillar myopathy	Pubtator	27075172	Associate	★☆☆☆☆ Found in Text Mining only
Myositis	Myositis	Pubtator	22210660	Associate	★☆☆☆☆ Found in Text Mining only
Myositis Inclusion Body	Myositis	Pubtator	17261282	Associate	★☆☆☆☆ Found in Text Mining only
Myotonic Dystrophy	Myotonic dystrophy	Pubtator	30845774, 33172487, 36139069	Stimulate	★☆☆☆☆ Found in Text Mining only
Nasal Polyps	Nasal polyp	Pubtator	10759457, 28714566	Stimulate	★☆☆☆☆ Found in Text Mining only
Nasal Polyps	Nasal polyp	Pubtator	22030969, 23709377, 39253973	Associate	★☆☆☆☆ Found in Text Mining only
Nasopharyngeal carcinoma	Nasopharyngeal Carcinoma	BEFREE	14678988, 19006646, 19560263, 26161396		★☆☆☆☆ Found in Text Mining only
Nasopharyngeal Carcinoma	Nasopharyngeal carcinoma	Pubtator	17881446, 18367518, 19860880, 20338061, 20637487, 22384168, 23563985, 24845412, 25861643, 26161396, 27147748, 27647909, 28053105, 28098136, 28256603, 28380444, 28445979, 28851814, 31073033, 31328403, 31430288, 32400857, 32521912, 33767586, 33924755, 34114393, 35490173, 36075565, 36361525, 36438903, 36820950, 37082996, 37925811	Associate	★☆☆☆☆ Found in Text Mining only
Nasopharyngeal Carcinoma	Nasopharyngeal carcinoma	Pubtator	35131382	Inhibit	★☆☆☆☆ Found in Text Mining only
Nasopharyngeal Neoplasms	Nasopharyngeal carcinoma	Pubtator	28098136, 32400857, 35394843	Associate	★☆☆☆☆ Found in Text Mining only
Neck Neoplasms	Neck Neoplasms	BEFREE	25454347		★☆☆☆☆ Found in Text Mining only
Necrosis	Necrosis	Pubtator	21474651, 27076368	Stimulate	★☆☆☆☆ Found in Text Mining only
Necrosis	Necrosis	Pubtator	29046333, 36899812	Associate	★☆☆☆☆ Found in Text Mining only
Necrotizing enterocolitis in fetus OR newborn	Necrotizing Enterocolitis	BEFREE	21529841		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	12414652, 17317814, 17921715, 17934524, 18334025, 18772349, 19231580, 19502791, 19531569, 20009901, 22509384, 22761754, 23160924, 23437404, 23457512, 23516545, 23593011, 2377285, 23977225, 24114584, 25446255, 26300007, 26364600, 26416897, 26801246, 27484466, 28801636, 28823542, 28919779, 29484114, 29508276, 29562203, 29588321, 29763384, 30014762, 30030559, 30250646, 30488488, 30496041, 30862497, 31382450, 31408824, 7913703, 8529468, 8615671		★☆☆☆☆ Found in Text Mining only
Nephritis	Nephritis	BEFREE	28617440		★☆☆☆☆ Found in Text Mining only
Nephritis Interstitial	Interstitial nephritis	Pubtator	18285351	Associate	★☆☆☆☆ Found in Text Mining only
Nephrosis Lipoid	Nephrotic syndrome	Pubtator	11576350	Associate	★☆☆☆☆ Found in Text Mining only
Nephrotic Syndrome	Nephrotic syndrome	Pubtator	15882260, 22551315, 40055727	Associate	★☆☆☆☆ Found in Text Mining only
Nervous System Diseases	Nervous system disease	Pubtator	12699414	Associate	★☆☆☆☆ Found in Text Mining only
nervous system disorder	Nervous System Disorder	LHGDN	16397579		★☆☆☆☆ Found in Text Mining only
Neural Tube Defects	Neural Tube Defect	BEFREE	27125519, 29693124		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	Pubtator	11679590, 12089148, 12198114, 16001969, 17215959, 17250678, 17542780, 18280257, 18305409, 1902412, 19436149, 21236599, 23967300, 25503960, 25527973, 25695505, 26592517, 27866306, 33931964	Associate	★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	LHGDN	12198114, 18615578		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	23071666, 8428579		★☆☆☆☆ Found in Text Mining only
Neurodegenerative Diseases	Neurodegenerative disorder	Pubtator	10206970, 15660126, 17712623, 17895971, 20488324, 25695505, 28017799, 33036367, 34415075, 36055286	Associate	★☆☆☆☆ Found in Text Mining only
Neurodegenerative Disorders	Neurodegenerative Disorders	BEFREE	30496826		★☆☆☆☆ Found in Text Mining only
Neuroendocrine Tumors	Neuroendocrine Tumors	BEFREE	19752553		★☆☆☆☆ Found in Text Mining only
Neurofibromatosis 2	Neurofibromatosis	Pubtator	30761159	Inhibit	★☆☆☆☆ Found in Text Mining only
Neurofibromatosis 2	Neurofibromatosis	Pubtator	30761159	Associate	★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	12174885, 24707489, 7675461		★☆☆☆☆ Found in Text Mining only
NONAKA MYOPATHY	Inclusion body myopathy	BEFREE	28092699		★☆☆☆☆ Found in Text Mining only
Nonorganic psychosis	Nonorganic Psychosis	BEFREE	15625200, 17123476, 17514428, 18189279, 20102668, 21655260, 22588665, 24339136, 31111773, 31649298		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	18356846, 18633101, 19165171, 19237660, 19798070, 20739506, 20846165, 21481180, 21622727, 23671649, 24484739, 24929539, 26586913, 31013288, 32188105, 33878036, 38203423, 39457458	Associate	★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	23671649, 29664665, 30521085, 31231489		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	30845774	Stimulate	★☆☆☆☆ Found in Text Mining only
Obesity Abdominal	Obesity	Pubtator	23671649	Associate	★☆☆☆☆ Found in Text Mining only
Obesity Morbid	Obesity	Pubtator	27507606	Associate	★☆☆☆☆ Found in Text Mining only
Obesity, Morbid	Obesity	BEFREE	27507606, 29664665		★☆☆☆☆ Found in Text Mining only
Ocular Hypertension	Ocular Hypertension	BEFREE	31306362		★☆☆☆☆ Found in Text Mining only
Oestrogen receptor positive breast cancer	Oestrogen Receptor Positive Breast Cancer	BEFREE	19151744		★☆☆☆☆ Found in Text Mining only
Oral Ulcer	Oral Ulcer	GWASCAT_DG	30837455		★☆☆☆☆ Found in Text Mining only
Oropharyngeal Carcinoma	Oropharyngeal Carcinoma	BEFREE	28418119		★☆☆☆☆ Found in Text Mining only
Oropharyngeal Neoplasms	Oropharyngeal neoplasm	Pubtator	28418119	Associate	★☆☆☆☆ Found in Text Mining only
Osteoarthritis	Osteoarthritis	Pubtator	16427328	Inhibit	★☆☆☆☆ Found in Text Mining only
Osteoarthritis	Osteoarthritis	Pubtator	20113495, 21172926, 22549135, 22549761, 23603903, 25888873, 27307355, 27433031, 27958655, 28000846, 28314786, 29095952, 29806631, 30133133, 30551507, 31146598, 31364869, 31383786, 31405216, 31537813, 31635187, 32016955, 32633338, 32986917, 33062145, 33174011, 33441764, 34737366, 35256893, 35955467, 36194485, 36768689, 37269815, 37788787, 38059912, 40076528	Associate	★☆☆☆☆ Found in Text Mining only
Osteoarthritis Knee	Osteoarthritis	Pubtator	23608377	Stimulate	★☆☆☆☆ Found in Text Mining only
Osteoarthritis Knee	Osteoarthritis	Pubtator	27958655, 30135182, 32409720	Associate	★☆☆☆☆ Found in Text Mining only
Osteoglophonic dwarfism	Osteoglophonic dwarfism	Pubtator	32096202	Associate	★☆☆☆☆ Found in Text Mining only
Osteomyelitis	Osteomyelitis	Pubtator	37459905	Associate	★☆☆☆☆ Found in Text Mining only
Osteopetrosis	Osteopetrosis	BEFREE	26178921		★☆☆☆☆ Found in Text Mining only
Osteopetrosis	Osteopetrosis	Pubtator	26178921	Associate	★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	Pubtator	22897816, 32620113, 35937796, 36311708, 37344864	Associate	★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	BEFREE	29355739		★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	LHGDN	12237108, 16167336		★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	Pubtator	16630341, 22506069, 25490312, 25874486, 26617729, 27144433, 27669226, 27706678, 28387915, 29461588, 29734183, 30536304, 30936265, 31173281, 31364725, 32847038, 34907738, 35989576, 36073547	Associate	★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	BEFREE	29131265		★☆☆☆☆ Found in Text Mining only
Ovarian Carcinoma	Ovarian Carcinoma	BEFREE	17145890		★☆☆☆☆ Found in Text Mining only
Ovarian clear cell carcinoma	Ovarian Carcinoma	BEFREE	29296226		★☆☆☆☆ Found in Text Mining only
Ovarian Cysts	Ovarian Cysts	CTD_human_DG	21239663		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian Cysts	Ovarian cysts	Pubtator	39377902	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian Diseases	Ovarian diseases	Pubtator	23044494	Associate	★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	LHGDN	15653692, 17545551		★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	BEFREE	21138333, 25659662, 26345753, 27484466, 28008951, 28206956, 30185771		★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	11773061, 14670967, 17724468, 18335034, 18408758, 18667446, 19500386, 19517469, 20424119, 20564628, 21623171, 22110186, 22228447, 23591404, 23714001, 23824740, 24272484, 24376747, 24530737, 24761768, 24963474, 25081699, 25509983, 25826225, 26030369, 26617813, 27041570, 27490802, 27708225, 27982283, 28234008, 28498503, 28504421, 29123378, 29169370, 29386467, 29770329, 29852322, 30135206, 31875458, 32020859, 32141535, 32207338, 32390009, 33086930, 33125094, 33150184, 34626802, 34734468, 34837026, 35577351, 36494579, 36550569, 37210768, 39292770	Associate	★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	25659662	Inhibit	★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	30622051	Stimulate	★☆☆☆☆ Found in Text Mining only
Ovarian Serous Adenocarcinoma	Ovarian serous adenocarcinoma	BEFREE	27484466		★☆☆☆☆ Found in Text Mining only
Oxalosis	Hyperoxaluria	CTD_human_DG	16284884		★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	17896154, 17921715, 25611381, 28801636		★☆☆☆☆ Found in Text Mining only
Pancreatic Ductal Adenocarcinoma	Pancreatic adenocarcinoma	BEFREE	27454293, 30463064		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasm	Pancreatic Neoplasm	LHGDN	12538487, 12767057, 14679213		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasm	Pancreatic Neoplasm	BEFREE	28801636		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	12865934, 14679213, 15476283, 17410536, 17622249, 18680225, 18829575, 19050262, 19405981, 19414389, 19502791, 19670328, 19940030, 20124483, 20484017, 20686216, 21206509, 21515913, 21880146, 21887310, 22722901, 23740244, 23957955, 23992306, 24471499, 24603988, 24633921, 25238288, 25431135, 26480820, 27208550, 27354262, 27505247, 27649783, 28388532, 28714369, 28724890, 30400136, 30558665, 30939781, 31288851, 31412018, 32347623, 33098056, 33523522, 33760162, 34956177, 35343383, 35606086, 36232715, 36685674, 36707625, 36999632, 37589506, 40281485, 9781666	Associate	★☆☆☆☆ Found in Text Mining only
Pancreatitis	Pancreatitis	Pubtator	26458814, 34882521	Associate	★☆☆☆☆ Found in Text Mining only
Pancreatitis	Pancreatitis	BEFREE	28373667, 29079517		★☆☆☆☆ Found in Text Mining only
Pancreatitis	Pancreatitis	Pubtator	34599510	Stimulate	★☆☆☆☆ Found in Text Mining only
Pancreatitis Chronic	Pancreatitis	Pubtator	15166955, 16127431, 17962362	Associate	★☆☆☆☆ Found in Text Mining only
Papillary thyroid carcinoma	Papillary thyroid carcinoma	BEFREE	25692306		★☆☆☆☆ Found in Text Mining only
Papilloma	Papilloma	Pubtator	20131316	Associate	★☆☆☆☆ Found in Text Mining only
Paralysis	Paralysis	Pubtator	24574500	Associate	★☆☆☆☆ Found in Text Mining only
Paraparesis Tropical Spastic	Tropical spastic paraparesis	Pubtator	21212284, 32912211, 9482906	Associate	★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	BEFREE	12203044		★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	Pubtator	12437580	Stimulate	★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	LHGDN	15257133		★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	Pubtator	19880420, 22156489, 23669642, 24593806, 28017799, 33161109, 34721431	Associate	★☆☆☆☆ Found in Text Mining only
Peeling Skin Syndrome	Peeling skin syndrome	Pubtator	26970370	Associate	★☆☆☆☆ Found in Text Mining only
Pelvic Organ Prolapse	Pelvic organ prolapse	Pubtator	28849117	Associate	★☆☆☆☆ Found in Text Mining only
Pemphigoid Bullous	Bullous pemphigoid	Pubtator	28351660	Associate	★☆☆☆☆ Found in Text Mining only
Pemphigus Vulgaris	Pemphigus Vulgaris	BEFREE	31077459		★☆☆☆☆ Found in Text Mining only
Periodontal Diseases	Periodontal disease	Pubtator	25861162	Associate	★☆☆☆☆ Found in Text Mining only
Periodontal Diseases	Periodontal Diseases	BEFREE	27403036		★☆☆☆☆ Found in Text Mining only
Periodontitis	Periodontitis	Pubtator	19405838, 25037760, 31144533, 31852255, 33851594, 34174589, 37351818	Associate	★☆☆☆☆ Found in Text Mining only
Periodontitis	Periodontitis	Pubtator	25861162	Stimulate	★☆☆☆☆ Found in Text Mining only
Periodontitis	Periodontitis	BEFREE	29046054, 29226952, 29287688, 29520950		★☆☆☆☆ Found in Text Mining only
Peripheral T-Cell Lymphoma	T-Cell Lymphoma	BEFREE	16123212, 16676369		★☆☆☆☆ Found in Text Mining only
Peripheral Vascular Diseases	Vascular Diseases	BEFREE	19995347		★☆☆☆☆ Found in Text Mining only
Peritonitis	Peritonitis	Pubtator	1683872, 33655604	Associate	★☆☆☆☆ Found in Text Mining only
Perry Syndrome	Perry Syndrome	BEFREE	28789478		★☆☆☆☆ Found in Text Mining only
PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS	Pigmentary Disorder, Reticulate, With Systemic Manifestations	BEFREE	12743697, 14737065		★☆☆☆☆ Found in Text Mining only
Polycystic Kidney Autosomal Dominant	Polycystic kidney disease	Pubtator	26666710, 30228110	Associate	★☆☆☆☆ Found in Text Mining only
Polycystic Kidney Diseases	Polycystic kidney disease	Pubtator	26666710	Associate	★☆☆☆☆ Found in Text Mining only
Polycystic Ovary Syndrome	Polycystic ovary syndrome	Pubtator	22045316	Stimulate	★☆☆☆☆ Found in Text Mining only
Polycystic Ovary Syndrome	Polycystic ovary syndrome	Pubtator	28617068, 32140727	Associate	★☆☆☆☆ Found in Text Mining only
Polycythemia	Polycythemia	BEFREE	17952198, 19295544		★☆☆☆☆ Found in Text Mining only
Polycythemia Vera	Polycythemia Vera	BEFREE	18793248		★☆☆☆☆ Found in Text Mining only
Polycythemia Vera	Polycythemia vera	Pubtator	35008095	Associate	★☆☆☆☆ Found in Text Mining only
Polymyositis	Polymyositis	BEFREE	27374114		★☆☆☆☆ Found in Text Mining only
Post-Traumatic Stress Disorder	Stress Disorder	BEFREE	28664719		★☆☆☆☆ Found in Text Mining only
Precursor Cell Lymphoblastic Leukemia Lymphoma	Lymphoblastic Leukemia	BEFREE	1612589		★☆☆☆☆ Found in Text Mining only
Primary biliary cirrhosis	Biliary Cirrhosis	CTD_human_DG	21399635		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Primary biliary cirrhosis	Biliary Cirrhosis	BEFREE	23000144, 26084578		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Primary biliary cirrhosis	Biliary Cirrhosis	GWASCAT_DG	28062665, 28425483		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Primary central nervous system lymphoma	Central Nervous System Lymphoma	BEFREE	31592789		★☆☆☆☆ Found in Text Mining only
Proliferative vitreoretinopathy	Proliferative Vitreoretinopathy	BEFREE	14737065		★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	12569576, 12727841, 14689584, 15498932, 19446741, 21245048, 22895549, 23880210, 24185914, 25749044, 26068031, 26450901, 26484607, 26788504		★☆☆☆☆ Found in Text Mining only
Prostatic Hyperplasia	Prostatic hyperplasia	Pubtator	21081304, 21499820, 26709083, 32416730, 34073143	Associate	★☆☆☆☆ Found in Text Mining only
Prostatic Intraepithelial Neoplasia	Prostatic intraepithelial neoplasia	Pubtator	21081304	Associate	★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic Neoplasms	LHGDN	14689584, 14743471, 15623625, 15678501, 16756716, 17499812, 18780829, 19123467		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	15240830, 16052512, 16205698, 16278667, 16543232, 16640785, 16756716, 17876045, 18444250, 18519641, 18615482, 18723484, 18942118, 18948740, 19055752, 19107816, 19123467, 19503095, 19809428, 19811499, 19834284, 20068069, 20216540, 20371728, 20618955, 20837598, 21081304, 21156016, 21499820, 21613824, 21789713, 22271494, 22384099, 22430136, 22496618, 22797919, 23593410, 23698767, 23894194, 23986446, 23991415, 24080497, 24151226, 24191894, 24287876, 24481661, 24925528, 25125658, 25220414, 25327559, 25971429, 26068031, 26186215, 26374334, 26497618, 26709083, 27078000, 27121695, 27406826, 27542219, 27672034, 27975057, 28208611, 28278500, 28561752, 28718667, 29202848, 29845254, 29917185, 30098292, 30106110, 30226591, 30420441, 30813597, 30824526, 31636124, 31730277, 32235729, 32999046, 33050597, 33258506, 33771884, 33956343, 34399719, 34445612, 34482382, 34785213, 34970697, 35061708, 35805202, 35899176, 36135731, 37047218, 37186007, 37581614, 37716704	Associate	★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	24587325	Stimulate	★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	26788504, 33784024	Inhibit	★☆☆☆☆ Found in Text Mining only
Proteinuria	Proteinuria	Pubtator	11576350	Stimulate	★☆☆☆☆ Found in Text Mining only
Proteinuria	Proteinuria	Pubtator	12969130	Associate	★☆☆☆☆ Found in Text Mining only
Psoriasis	Psoriasis	Pubtator	15955104, 16519819, 19169254, 26212909, 28239238, 29194363, 30543901, 36498953	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Psoriasis	Psoriasis	BEFREE	18330586, 19554025, 23078099, 25006012, 27346731, 29748001, 30825251		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Psoriasis	Psoriasis	LHGDN	18330586, 19169254		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Psoriasis	Psoriasis	GWASCAT_DG	26974007		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Psoriasis	Psoriasis	Pubtator	27071417, 29182760	Stimulate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Psoriasis vulgaris	Psoriasis vulgaris	BEFREE	18330586, 27346731		★☆☆☆☆ Found in Text Mining only
Psychotic Disorders	Psychosis	BEFREE	15625200, 17123476, 17514428, 18189279, 20102668, 21655260, 22588665, 24339136, 31111773, 31649298		★☆☆☆☆ Found in Text Mining only
Pulmonary Arterial Hypertension	Pulmonary arterial hypertension	Pubtator	18708631, 22718766, 36233263	Associate	★☆☆☆☆ Found in Text Mining only
Pulmonary Arterial Hypertension	Pulmonary arterial hypertension	Pubtator	24124488	Stimulate	★☆☆☆☆ Found in Text Mining only
Pulmonary Disease Chronic Obstructive	Chronic obstructive pulmonary disease	Pubtator	15170030, 19296848, 19717478, 19841186, 23877858, 24368768, 24993907, 25409035, 25943190, 26809128, 33510050, 34435653, 38214374, 38335160	Associate	★☆☆☆☆ Found in Text Mining only
Pulmonary Disease Chronic Obstructive	Chronic obstructive pulmonary disease	Pubtator	22441735, 27035424, 30034228	Stimulate	★☆☆☆☆ Found in Text Mining only
Pulmonary Emphysema	Pulmonary Emphysema	BEFREE	19965984		★☆☆☆☆ Found in Text Mining only
Pulmonary Fibrosis	Pulmonary Fibrosis	BEFREE	31323300		★☆☆☆☆ Found in Text Mining only
Pulmonary Fibrosis	Pulmonary fibrosis	Pubtator	32319542, 33123215, 33832291, 37944440	Associate	★☆☆☆☆ Found in Text Mining only
Pyoderma Gangrenosum	Pyoderma gangrenosum	Pubtator	36892687	Associate	★☆☆☆☆ Found in Text Mining only
Rectal Carcinoma	Rectal Carcinoma	BEFREE	21479914		★☆☆☆☆ Found in Text Mining only
Recurrent bronchitis	Bronchitis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	BEFREE	17047486, 23295440, 26484607, 29212573, 31820316, 8756377		★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	LHGDN	18928570		★☆☆☆☆ Found in Text Mining only
Renal fibrosis	Renal fibrosis	BEFREE	28099346, 28714020		★☆☆☆☆ Found in Text Mining only
Renal Insufficiency	Renal Insufficiency	BEFREE	29601852		★☆☆☆☆ Found in Text Mining only
Respiratory Distress Syndrome, Adult	Respiratory Distress Syndrome	BEFREE	17468848, 21573030, 30655311		★☆☆☆☆ Found in Text Mining only
Respiratory Tract Infections	Respiratory system infectious disease	Pubtator	36571238	Associate	★☆☆☆☆ Found in Text Mining only
Retinal Diseases	Retinal detachment	Pubtator	28829844, 31298304	Associate	★☆☆☆☆ Found in Text Mining only
Retinal Diseases	Retinal Diseases	BEFREE	29499566		★☆☆☆☆ Found in Text Mining only
Retinoblastoma	Retinoblastoma	BEFREE	12414652, 31059756		★☆☆☆☆ Found in Text Mining only
Retinoblastoma	Retinoblastoma	Pubtator	19252413, 25169718, 31483776, 32277665, 40142291	Associate	★☆☆☆☆ Found in Text Mining only
Retinoblastoma	Retinoblastoma	Pubtator	2181449	Inhibit	★☆☆☆☆ Found in Text Mining only
Rett Syndrome	Rett syndrome	Pubtator	20934504	Associate	★☆☆☆☆ Found in Text Mining only
Rett Syndrome	Rett Syndrome	BEFREE	29742424		★☆☆☆☆ Found in Text Mining only
Rhabdomyosarcoma	Rhabdomyosarcoma	LHGDN	17938575		★☆☆☆☆ Found in Text Mining only
Rhabdomyosarcoma	Rhabdomyosarcoma	Pubtator	27960157, 36980247	Associate	★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	11884470, 15713218, 17216675, 20822710, 22742859, 28083614, 28107661, 29069487, 30060740, 31362785		★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	LHGDN	16519794, 17896809, 17929131, 18322992		★☆☆☆☆ Found in Text Mining only
Rhinitis Allergic	Rhinitis	Pubtator	28626165	Associate	★☆☆☆☆ Found in Text Mining only
Rigid spine syndrome	Rigid spine muscular dystrophy	Pubtator	24997224	Associate	★☆☆☆☆ Found in Text Mining only
Salivary Gland Neoplasms	Salivary gland neoplasms	Pubtator	16900776	Associate	★☆☆☆☆ Found in Text Mining only
Sarcoidosis	Sarcoidosis	Pubtator	16935475, 20039400, 21177920, 24768588, 26051272	Associate	★☆☆☆☆ Found in Text Mining only
Sarcoma Ewing	Sarcoma	Pubtator	15581626, 16857678, 27317769	Associate	★☆☆☆☆ Found in Text Mining only
Sarcoma Kaposi	Sarcoma	Pubtator	11507211, 21792887, 30029010, 37032379	Associate	★☆☆☆☆ Found in Text Mining only
Sarcopenia	Sarcopenia	Pubtator	38320732, 39519004	Associate	★☆☆☆☆ Found in Text Mining only
Schizoaffective disorder, bipolar type	Schizoaffective Disorder	BEFREE	17192894		★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	10206241, 10394470, 10618013, 10813805, 11803513, 11803515, 11803532, 12399955, 12450949, 12685995, 1450287, 14569275, 15038993, 15100704, 15465979, 15531077, 15625200, 16469942, 16843094, 16876141, 17012698, 17014995, 17113175, 17192894, 17349863, 17448448, 17475740, 17604606, 1798824, 18056246, 18545269, 18762587, 19961902, 20102668, 20363872, 20382002, 22048129, 22705363, 22981153, 23318559, 23598060, 23910792, 24339136, 25464917, 26441157, 27315458, 27825784, 28606770, 28661580, 29202656, 30790597, 30862179, 30920339, 30974230, 31353068, 31536946, 31581776, 31649298, 31780341, 31803031, 8094267, 8399828, 8873294, 9012828		★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	Pubtator	25740047	Inhibit	★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	Pubtator	33436571, 33562405, 35027554, 35995342, 36462601	Associate	★☆☆☆☆ Found in Text Mining only
Scleroderma Diffuse	Scleroderma	Pubtator	33809015	Associate	★☆☆☆☆ Found in Text Mining only
Scleroderma Systemic	Systemic sclerosis	Pubtator	22407130	Stimulate	★☆☆☆☆ Found in Text Mining only
Scleroderma Systemic	Systemic sclerosis	Pubtator	23237063, 25880423, 34248934, 7882553	Associate	★☆☆☆☆ Found in Text Mining only
Secondary Biliary Cholangitis	Biliary Cholangitis	CTD_human_DG	21399635		★☆☆☆☆ Found in Text Mining only
Sensorineural Hearing Loss (disorder)	Hearing Loss	BEFREE	25397881		★☆☆☆☆ Found in Text Mining only
Sepsis	Sepsis	Pubtator	10722586, 11141228, 17592547, 25880845, 33691249, 35003082, 35777990, 35886907, 37773725	Associate	★☆☆☆☆ Found in Text Mining only
Septicemia	Septicemia	BEFREE	15070815, 22408080, 23249930, 25880845, 29192367, 29689269		★☆☆☆☆ Found in Text Mining only
Sezary Syndrome	Sezary Syndrome	BEFREE	16219794		★☆☆☆☆ Found in Text Mining only
Sezary Syndrome	Sezary syndrome	Pubtator	16219794, 22936659, 28843295	Associate	★☆☆☆☆ Found in Text Mining only
Sinusitis	Sinusitis	BEFREE	17040605		★☆☆☆☆ Found in Text Mining only
Sjogren's Syndrome	Sjogren syndrome	Pubtator	10572100, 22157716, 23944604, 24655025, 26380323, 26724675, 27142093, 27188286, 32201227, 33184486	Associate	★☆☆☆☆ Found in Text Mining only
Skin Diseases	Skin disease	Pubtator	32775415, 36203612	Associate	★☆☆☆☆ Found in Text Mining only
Skin Neoplasms	Skin neoplasm	Pubtator	12659672, 34583610, 39927471	Associate	★☆☆☆☆ Found in Text Mining only
Sleep Apnea Obstructive	Sleep apnea	Pubtator	23288968, 24293770, 27754829, 36479843, 36824025, 37189386	Associate	★☆☆☆☆ Found in Text Mining only
Sleep Apnea Obstructive	Sleep apnea	Pubtator	33335174, 34768848	Stimulate	★☆☆☆☆ Found in Text Mining only
Sleep Deprivation	Sleep deprivation	Pubtator	18561896	Stimulate	★☆☆☆☆ Found in Text Mining only
Sleep Deprivation	Sleep deprivation	Pubtator	24411622	Associate	★☆☆☆☆ Found in Text Mining only
Small Cell Lung Carcinoma	Small cell lung carcinoma	Pubtator	19903458, 22898898, 24755270, 32767507	Associate	★☆☆☆☆ Found in Text Mining only
Spherocytosis Type 1	Spherocytosis	Pubtator	23634661	Associate	★☆☆☆☆ Found in Text Mining only
Spinal Muscular Atrophy	Spinal Muscular Atrophy	BEFREE	31019235		★☆☆☆☆ Found in Text Mining only
Spinocerebellar Ataxia Autosomal Recessive 2	Spinocerebellar ataxia	Pubtator	18621123	Associate	★☆☆☆☆ Found in Text Mining only
Splenomegaly	Splenomegaly	Pubtator	29963038, 36571238	Associate	★☆☆☆☆ Found in Text Mining only
Spondylarthritis	Spondyloarthritis	BEFREE	31362785		★☆☆☆☆ Found in Text Mining only
Spondylitis Ankylosing	Ankylosing spondylitis	Pubtator	33717069, 38019769	Associate	★☆☆☆☆ Found in Text Mining only
Spondylosis	Spondylosis	Pubtator	31322007	Associate	★☆☆☆☆ Found in Text Mining only
Sporadic Breast Carcinoma	Breast Carcinoma	BEFREE	12406554		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	BEFREE	10416612, 12571598, 15365549, 16387424, 20456385, 31662440, 7913703		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	LHGDN	12676577, 15920558, 16387424, 17498291, 17908953, 18829502		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of esophagus	Esophagus Neoplasm	BEFREE	24324738, 27557627, 28428633, 30119232		★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	11044363, 16376337, 16818647, 16984731, 17498291, 18225538, 18254958, 18684839, 19430297, 19789307, 19850643, 20695076, 20702412, 21071608, 22158872, 22509384, 22583829, 22641218, 23251525, 23844176, 24069219, 24999732, 25857630, 25951128, 26895469, 26914121, 27191981, 27259998, 28386055, 29794474, 30041677, 30421493, 30768878, 31343435, 31624067, 31759370, 32329848, 32865181, 32961679, 33169334, 34290225, 34486492, 34911941, 35176168, 35177638, 35310196, 35365168, 35634245, 35711568, 36142321, 36353608, 36813772, 36969496, 37134043, 37523561, 38166970, 38287816, 40650045	Associate	★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	37174723	Stimulate	★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of the head and neck	Carcinoma Of The Head And Neck	BEFREE	16355386, 17405170, 26435503, 26895469, 30488488, 7913703		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of tongue	Tongue carcinoma	BEFREE	30041677, 30250646		★☆☆☆☆ Found in Text Mining only
Stable angina	Stable Angina	BEFREE	29858968		★☆☆☆☆ Found in Text Mining only
Steroid resistant nephrotic syndrome of childhood	Steroid resistant nephrotic syndrome	BEFREE	15200413		★☆☆☆☆ Found in Text Mining only
Steroid-sensitive nephrotic syndrome	Steroid-Sensitive Nephrotic Syndrome	BEFREE	15200413		★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	11948459, 19231580, 19509001, 2015552, 22776619, 23824692, 24101096, 25411415, 25526460, 25888547, 26801246, 28670959, 29483646, 29562203, 31155951		★☆☆☆☆ Found in Text Mining only
Stomach Diseases	Stomach disease	Pubtator	16158947, 20038537, 22905237, 23444260, 29317648, 33242939	Associate	★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	10722567, 11310828, 12324457, 14570916, 14695762, 14716817, 15682491, 15929167, 15991280, 1684358, 17970088, 17982235, 18384434, 18720533, 1913456, 19798449, 19857958, 19890957, 20706634, 20977754, 21523770, 22039417, 22231395, 22351606, 22408359, 22505595, 22529688, 22776619, 22799335, 22905237, 23002344, 23117246, 23402362, 23444260, 23456298, 23824821, 23870553, 24115825, 24495516, 24587255, 24905806, 24929539, 25350954, 25411415, 25526460, 25547433, 25612651, 25725220, 25888547, 26176983, 26242263, 26520440, 26547583, 26675260, 26801246, 26898458, 27438138, 28109078, 28460480, 28487608, 28581489, 28627240, 28670959, 28835317, 29317648, 29329668, 29358861, 29361914, 29422082, 29845222, 30097586, 30292233, 30770791, 30773850, 30778796, 30799435, 30978440, 30987656, 31456462, 31556767, 31659258, 31737131, 32174796, 32467608, 32468020, 32529870, 32626967, 33110054, 33113427, 33921267, 34375503, 34840695, 35036435, 35510522, 35936362, 36232317, 36336860, 36519789, 36580668, 36632455, 36823376, 37201873, 37487261, 37747314, 37858201, 38062041, 38175202, 38184692, 39384957	Associate	★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach Neoplasms	LHGDN	12297725, 14570916, 15905616, 18090157, 18184402, 18824170, 19020743, 19231580		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	14966904, 27042000, 34773930	Stimulate	★☆☆☆☆ Found in Text Mining only
Stomatitis	Stomatitis	Pubtator	34311536	Associate	★☆☆☆☆ Found in Text Mining only
Stroke	Stroke	Pubtator	21114618, 31242583, 36574951, 37794467	Associate	★☆☆☆☆ Found in Text Mining only
synovial sarcoma	Synovial sarcoma	LHGDN	16029077		★☆☆☆☆ Found in Text Mining only
Systemic Scleroderma	Scleroderma	BEFREE	23237063		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Systemic Scleroderma	Scleroderma	GWASCAT_DG	30247649, 31672989		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
T-Cell Lymphoma	T-Cell Lymphoma	BEFREE	19395464		★☆☆☆☆ Found in Text Mining only
Temporomandibular Joint Disorders	Temporomandibular Joint Disorders	BEFREE	11294923		★☆☆☆☆ Found in Text Mining only
Testicular Diseases	Testicular disease	Pubtator	11786414	Associate	★☆☆☆☆ Found in Text Mining only
Testicular Germ Cell Tumor	Testicular Germ Cell Tumor	BEFREE	28471449		★☆☆☆☆ Found in Text Mining only
Testicular Germ Cell Tumor	Testicular germ cell tumor	Pubtator	28471449, 32167697	Associate	★☆☆☆☆ Found in Text Mining only
Thromboangiitis Obliterans	Thromboangiitis obliterans	Pubtator	38640750	Associate	★☆☆☆☆ Found in Text Mining only
Thrombocythemia Essential	Essential thrombocythemia	Pubtator	33599741	Associate	★☆☆☆☆ Found in Text Mining only
Thrombosis	Thrombosis	Pubtator	16879222, 29595637, 33810533, 35297992, 38203423	Associate	★☆☆☆☆ Found in Text Mining only
Thyroid associated opthalmopathies	Thyroid eye disease	BEFREE	24956560, 28177666		★☆☆☆☆ Found in Text Mining only
Thyroid Cancer Papillary	Papillary thyroid cancer	Pubtator	17296934, 18212749, 25692306, 25887589, 26582795, 26637328, 29117154, 30254191, 35543351, 36438899	Associate	★☆☆☆☆ Found in Text Mining only
Thyroid carcinoma	Thyroid Carcinoma	BEFREE	18768801, 24526373, 28234980, 30014762, 31578590		★☆☆☆☆ Found in Text Mining only
Thyroid Carcinoma Anaplastic	Thyroid cancer	Pubtator	28459364, 29924913, 34360846	Associate	★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasm	Thyroid Neoplasm	LHGDN	18508109		★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasm	Thyroid Neoplasm	BEFREE	18768801		★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasms	Thyroid cancer	Pubtator	18651802, 18768801, 20492683, 22438958, 26263379, 26823762, 28099584, 29393421, 30244247, 31578590, 33975520, 34703209	Associate	★☆☆☆☆ Found in Text Mining only
TIBIAL MUSCULAR DYSTROPHY, TARDIVE	Tibial muscular dystrophy	BEFREE	11294923		★☆☆☆☆ Found in Text Mining only
Tongue Neoplasms	Tongue cancer	Pubtator	36639835	Associate	★☆☆☆☆ Found in Text Mining only
Transitional cell carcinoma of bladder	Bladder carcinoma	BEFREE	19778281		★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple Negative Breast Neoplasms	BEFREE	23185507, 28388298, 29801480		★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple negative breast cancer	Pubtator	23185507, 23934482, 26494004, 26767845, 26943587, 27162557, 27545642, 29075784, 29735611, 29801480, 30826569, 30921428, 31731625, 31936263, 32920591, 33599741, 34197030, 34638797, 35955813, 36184517, 36724950, 36923216, 37551997, 37681500, 38164185	Associate	★☆☆☆☆ Found in Text Mining only
Tuberous Sclerosis	Tuberous Sclerosis	LHGDN	14572449		★☆☆☆☆ Found in Text Mining only
Tuberous Sclerosis	Tuberous sclerosis complex	Pubtator	26374334, 36301030	Associate	★☆☆☆☆ Found in Text Mining only
Tubular Aggregate Myopathy	Tubular Aggregate Myopathy	BEFREE	29588321		★☆☆☆☆ Found in Text Mining only
Ulcerative Colitis	Ulcerative colitis	LHGDN	12133438		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ulcerative Colitis	Ulcerative colitis	BEFREE	14613970, 15905705, 16313306, 16804398, 17124531, 17600378, 17852842, 18716880, 21245992, 22828805, 23322997, 24971461, 30794281, 9928378		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ulcerative Colitis	Ulcerative colitis	GWASDB_DG	23128233		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ulcerative Colitis	Ulcerative colitis	GWASCAT_DG	23128233, 26192919, 26974007		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Urinary Bladder Diseases	Urinary bladder diseases	Pubtator	12824899	Associate	★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	18263644, 18472007, 19682434, 21054790, 2181449, 22102915, 23271730, 23725146, 23977085, 24316875, 24443255, 24466111, 25050631, 25369740, 25846736, 26239046, 26715272, 26987391, 27322140, 28122346, 28139689, 28333147, 28586028, 28629334, 29081034, 29391086, 29867225, 29925938, 2998589, 30032159, 31212130, 31837261, 31906413, 33002420, 34034714, 34220332, 34517533, 34564696, 35246056, 35581573, 36430344, 37016361, 37525118, 37958747, 37993335, 38554019	Associate	★☆☆☆☆ Found in Text Mining only
Urinary Tract Infections	Urinary tract infection	Pubtator	38554019	Associate	★☆☆☆☆ Found in Text Mining only
Urothelial Carcinoma	Urothelial Carcinoma	BEFREE	30225173		★☆☆☆☆ Found in Text Mining only
Uterine Cervical Dysplasia	Uterine disease	Pubtator	25548486	Associate	★☆☆☆☆ Found in Text Mining only
Uterine Cervical Dysplasia	Uterine disease	Pubtator	40141137	Stimulate	★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	15197583, 15247985, 15629778, 15769641, 18210747, 20009901, 20067776, 20231067, 21786035, 22074157, 23595222, 23640294, 23824834, 23940799, 24650367, 24885472, 25250801, 26436510, 27883176, 28074045, 28402258, 28545028, 28873198, 29048616, 29207048, 29291370, 29393414, 29989651, 31026389, 31128029, 31943744, 32401379, 32718121, 33155196, 35194034, 37461017, 40133221, 40141137, 40289006	Associate	★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	31099286	Inhibit	★☆☆☆☆ Found in Text Mining only
Uterine Diseases	Uterine polyp	Pubtator	18710704, 24262718	Associate	★☆☆☆☆ Found in Text Mining only
Uveal melanoma	Uveal melanoma	Pubtator	22653968, 31612319, 37710185	Associate	★☆☆☆☆ Found in Text Mining only
Uveal melanoma	Uveal Melanoma	BEFREE	31533021		★☆☆☆☆ Found in Text Mining only
Uveitis	Uveitis	Pubtator	21908944, 23401649	Associate	★☆☆☆☆ Found in Text Mining only
Uveomeningoencephalitic Syndrome	Uveomeningoencephalitic syndrome	Pubtator	35003060	Associate	★☆☆☆☆ Found in Text Mining only
Vascular Calcification	Vascular calcification	Pubtator	22796540, 29227975, 32722241	Associate	★☆☆☆☆ Found in Text Mining only
Vascular Calcification	Vascular calcification	Pubtator	34954251	Stimulate	★☆☆☆☆ Found in Text Mining only
Vascular Diseases	Vascular disease	Pubtator	15972689	Stimulate	★☆☆☆☆ Found in Text Mining only
Vascular Diseases	Vascular disease	Pubtator	19237660, 20418897, 21754991, 24760806, 25489974, 25550806, 26016511, 26138903, 35053320	Associate	★☆☆☆☆ Found in Text Mining only
Vascular System Injuries	Vascular system injury	Pubtator	10759767	Associate	★☆☆☆☆ Found in Text Mining only
Vasculitis	Vasculitis	BEFREE	16465659		★☆☆☆☆ Found in Text Mining only
Vasculitis	Vasculitis	Pubtator	22236003	Associate	★☆☆☆☆ Found in Text Mining only
Vasculitis	Vasculitis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Venous Thromboembolism	Venous thromboembolism	Pubtator	23757261	Associate	★☆☆☆☆ Found in Text Mining only
Venous Thrombosis	Venous thrombosis	Pubtator	36474713	Associate	★☆☆☆☆ Found in Text Mining only
Ventricular Remodeling	Ventricular remodeling	Pubtator	19480714, 20534156, 34939316	Associate	★☆☆☆☆ Found in Text Mining only
Vitamin D Deficiency	Vitamin d deficiency	Pubtator	25380286, 36430854	Stimulate	★☆☆☆☆ Found in Text Mining only
Vitiligo	Vitiligo	Pubtator	37731844	Associate	★☆☆☆☆ Found in Text Mining only
Vitiligo	Vitiligo	Pubtator	40723924	Stimulate	★☆☆☆☆ Found in Text Mining only
Vitreoretinopathy Proliferative	Vitreoretinopathy	Pubtator	14737065	Stimulate	★☆☆☆☆ Found in Text Mining only
Vitreoretinopathy Proliferative	Vitreoretinopathy	Pubtator	31608440	Associate	★☆☆☆☆ Found in Text Mining only
Waldenstrom Macroglobulinemia	Waldenstrom macroglobulinemia	Pubtator	18334673, 19351844, 22931316, 23532735, 23836557	Associate	★☆☆☆☆ Found in Text Mining only
Werner Syndrome	Werner syndrome	Pubtator	26037922	Associate	★☆☆☆☆ Found in Text Mining only
WHIM syndrome	Whim syndrome	Pubtator	33485325	Associate	★☆☆☆☆ Found in Text Mining only