NFKBIA (NFKB inhibitor alpha)

Gene

• Entrez ID: 4792
• Gene name: NFKB inhibitor alpha
• Gene symbol: NFKBIA
• Synonyms (NCBI Gene): EDAID2, IKBA, MAD-3, NFKBI
• Chromosome: 14
• Chromosome location: 14q13.2
• Summary: This gene encodes a member of the NF-kappa-B inhibitor family, which contain multiple ankrin repeat domains. The encoded protein interacts with REL dimers to inhibit NF-kappa-B/REL complexes which are involved in inflammatory responses. The encoded protei

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs28933100	C>A,T	Pathogenic	Coding sequence variant, missense variant
rs121913664	C>T	Pathogenic	Stop gained, coding sequence variant
rs121913665	C>A	Pathogenic	Stop gained, coding sequence variant
rs142195196	G>A	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs886041411	G>A	Pathogenic	Coding sequence variant, stop gained
rs1555342918	C>T	Pathogenic	Stop gained, coding sequence variant
rs1566591073	A>C,T	Pathogenic	Coding sequence variant, missense variant
rs1566591076	G>T	Pathogenic	Coding sequence variant, missense variant
rs1566591082	G>A,C	Pathogenic	Synonymous variant, coding sequence variant, missense variant
rs1566591086	T>C	Pathogenic	Coding sequence variant, missense variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT003202	kshv-miR-K12-1-5p	Luciferase reporter assay, Western blot	20081837
MIRT003202	kshv-miR-K12-1-5p	Luciferase reporter assay, Western blot	20081837
MIRT006695	hsa-miR-30e-3p	Immunohistochemistry, Luciferase reporter assay, qRT-PCR, Western blot	22156201
MIRT006695	hsa-miR-30e-3p	Immunohistochemistry, Luciferase reporter assay, qRT-PCR, Western blot	22156201
MIRT017719	hsa-miR-335-5p	Microarray	18185580
MIRT030500	hsa-miR-24-3p	Microarray	19748357
MIRT052129	hsa-let-7b-5p	CLASH	23622248
MIRT437422	hsa-miR-196a-5p	BxPC-3 and SW1990"	24504166
MIRT437422	hsa-miR-196a-5p	BxPC-3 and SW1990"	24504166
MIRT438759	hsa-miR-126-3p	Immunofluorescence, Luciferase reporter assay, qRT-PCR, Western blot	23285182
MIRT438759	hsa-miR-126-3p	Immunofluorescence, Luciferase reporter assay, qRT-PCR, Western blot	23285182
MIRT440119	ebv-miR-BART7-3p	HITS-CLIP	22473208
MIRT440119	ebv-miR-BART7-3p	HITS-CLIP	22473208
MIRT437422	hsa-miR-196a-5p	BxPC-3 and SW1990"	24504166
MIRT736434	hsa-miR-491-3p	qRT-PCR, Flow cytometry	33679688
MIRT736434	hsa-miR-491-3p	qRT-PCR, Flow cytometry	33679688
MIRT437422	hsa-miR-196a-5p	Luciferase reporter assay	35655924
MIRT1183481	hsa-miR-1283	CLIP-seq
MIRT1183482	hsa-miR-129-5p	CLIP-seq
MIRT1183483	hsa-miR-140-3p	CLIP-seq
MIRT1183484	hsa-miR-141	CLIP-seq
MIRT1183485	hsa-miR-196a	CLIP-seq
MIRT1183486	hsa-miR-196b	CLIP-seq
MIRT1183487	hsa-miR-200a	CLIP-seq
MIRT1183488	hsa-miR-2116	CLIP-seq
MIRT1183489	hsa-miR-300	CLIP-seq
MIRT1183490	hsa-miR-3064-5p	CLIP-seq
MIRT1183491	hsa-miR-3065-5p	CLIP-seq
MIRT1183492	hsa-miR-323-3p	CLIP-seq
MIRT1183493	hsa-miR-3616-3p	CLIP-seq
MIRT1183494	hsa-miR-3662	CLIP-seq
MIRT1183495	hsa-miR-381	CLIP-seq
MIRT1183496	hsa-miR-3924	CLIP-seq
MIRT1183497	hsa-miR-4420	CLIP-seq
MIRT1183498	hsa-miR-4446-3p	CLIP-seq
MIRT1183499	hsa-miR-4459	CLIP-seq
MIRT1183500	hsa-miR-4656	CLIP-seq
MIRT1183501	hsa-miR-4666-3p	CLIP-seq
MIRT1183502	hsa-miR-4666-5p	CLIP-seq
MIRT1183503	hsa-miR-4677-5p	CLIP-seq
MIRT1183504	hsa-miR-4687-3p	CLIP-seq
MIRT1183505	hsa-miR-4698	CLIP-seq
MIRT1183506	hsa-miR-4700-3p	CLIP-seq
MIRT1183507	hsa-miR-4716-5p	CLIP-seq
MIRT1183508	hsa-miR-4719	CLIP-seq
MIRT1183509	hsa-miR-4721	CLIP-seq
MIRT1183510	hsa-miR-4724-5p	CLIP-seq
MIRT1183511	hsa-miR-4779	CLIP-seq
MIRT1183512	hsa-miR-4804-3p	CLIP-seq
MIRT1183513	hsa-miR-483-3p	CLIP-seq
MIRT1183514	hsa-miR-499-3p	CLIP-seq
MIRT1183515	hsa-miR-499a-3p	CLIP-seq
MIRT1183516	hsa-miR-5095	CLIP-seq
MIRT1183517	hsa-miR-5096	CLIP-seq
MIRT1183518	hsa-miR-513a-5p	CLIP-seq
MIRT1183519	hsa-miR-513b	CLIP-seq
MIRT1183520	hsa-miR-548c-3p	CLIP-seq
MIRT1183521	hsa-miR-548k	CLIP-seq
MIRT1183522	hsa-miR-548n	CLIP-seq
MIRT1183523	hsa-miR-548t	CLIP-seq
MIRT1183524	hsa-miR-802	CLIP-seq
MIRT1183484	hsa-miR-141	CLIP-seq
MIRT1183485	hsa-miR-196a	CLIP-seq
MIRT1183486	hsa-miR-196b	CLIP-seq
MIRT1183487	hsa-miR-200a	CLIP-seq
MIRT1183490	hsa-miR-3064-5p	CLIP-seq
MIRT1183496	hsa-miR-3924	CLIP-seq
MIRT1183497	hsa-miR-4420	CLIP-seq
MIRT1183499	hsa-miR-4459	CLIP-seq
MIRT1183502	hsa-miR-4666-5p	CLIP-seq
MIRT1183504	hsa-miR-4687-3p	CLIP-seq
MIRT1183506	hsa-miR-4700-3p	CLIP-seq
MIRT1183510	hsa-miR-4724-5p	CLIP-seq
MIRT1183511	hsa-miR-4779	CLIP-seq
MIRT1183512	hsa-miR-4804-3p	CLIP-seq
MIRT1183513	hsa-miR-483-3p	CLIP-seq
MIRT1183514	hsa-miR-499-3p	CLIP-seq
MIRT1183515	hsa-miR-499a-3p	CLIP-seq
MIRT1183516	hsa-miR-5095	CLIP-seq
MIRT1183517	hsa-miR-5096	CLIP-seq
MIRT1183518	hsa-miR-513a-5p	CLIP-seq
MIRT2053177	hsa-miR-615-5p	CLIP-seq
MIRT1183524	hsa-miR-802	CLIP-seq
MIRT1183481	hsa-miR-1283	CLIP-seq
MIRT1183492	hsa-miR-323-3p	CLIP-seq
MIRT1183496	hsa-miR-3924	CLIP-seq
MIRT1183499	hsa-miR-4459	CLIP-seq
MIRT1183506	hsa-miR-4700-3p	CLIP-seq
MIRT2282473	hsa-miR-4704-3p	CLIP-seq
MIRT1183511	hsa-miR-4779	CLIP-seq
MIRT1183516	hsa-miR-5095	CLIP-seq
MIRT1183518	hsa-miR-513a-5p	CLIP-seq
MIRT2053177	hsa-miR-615-5p	CLIP-seq
MIRT2282474	hsa-miR-668	CLIP-seq
MIRT2282473	hsa-miR-4704-3p	CLIP-seq
MIRT1183518	hsa-miR-513a-5p	CLIP-seq
MIRT2053177	hsa-miR-615-5p	CLIP-seq
MIRT2282474	hsa-miR-668	CLIP-seq
MIRT2282473	hsa-miR-4704-3p	CLIP-seq
MIRT1183518	hsa-miR-513a-5p	CLIP-seq
MIRT2053177	hsa-miR-615-5p	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
NFKB1	Activation	12885753
NFKB1	Repression	11744993
NFKB1	Unknown	10454561;15499023;17876798
PPARA	Activation	14976045
PPARA	Unknown	11981037
RELA	Activation	12885753
RELA	Repression	11744993
RELA	Unknown	15499023;17876798

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IMP	16938301
GO:0002376	Process	Immune system process	IEA
GO:0005515	Function	Protein binding	IPI	9452483, 9520446, 9865693, 10498867, 10733566, 12482991, 12486103, 12656673, 12730857, 14685242, 14743216, 15601829, 15799966, 16126728, 16195219, 16286467, 16319058, 16365431, 16683270, 16951195, 17003112, 17301240, 17318178, 17612295, 18045535, 18539148, 18632959, 18922877, 190083
GO:0005634	Component	Nucleus	IDA	7679069, 16648481
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005737	Component	Cytoplasm	IDA	1493333
GO:0005737	Component	Cytoplasm	IDA	3140380
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	IBA
GO:0005829	Component	Cytosol	IDA
GO:0005829	Component	Cytosol	IEA
GO:0005829	Component	Cytosol	TAS
GO:0005886	Component	Plasma membrane	IDA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IDA	34721373
GO:0006606	Process	Protein import into nucleus	IDA	32290222
GO:0006606	Process	Protein import into nucleus	IEA
GO:0006954	Process	Inflammatory response	IDA	10748004
GO:0007219	Process	Notch signaling pathway	IEA
GO:0007249	Process	Canonical NF-kappaB signal transduction	IDA	1406630, 12048232, 34721373
GO:0007249	Process	Canonical NF-kappaB signal transduction	IDA	1493333, 25038658
GO:0008139	Function	Nuclear localization sequence binding	IPI	1493333
GO:0010468	Process	Regulation of gene expression	IEA
GO:0010745	Process	Negative regulation of macrophage derived foam cell differentiation	IMP	16938301
GO:0010888	Process	Negative regulation of lipid storage	IMP	16938301
GO:0019899	Function	Enzyme binding	IPI	16648481
GO:0023019	Process	Signal transduction involved in regulation of gene expression	IDA	1406630, 34721373
GO:0023019	Process	Signal transduction involved in regulation of gene expression	IDA	25038658
GO:0031625	Function	Ubiquitin protein ligase binding	IPI	9859996
GO:0031663	Process	Lipopolysaccharide-mediated signaling pathway	IEA
GO:0032088	Process	Negative regulation of NF-kappaB transcription factor activity	IDA	11931770
GO:0032375	Process	Negative regulation of cholesterol transport	IMP	16938301
GO:0032495	Process	Response to muramyl dipeptide	IEA
GO:0032496	Process	Response to lipopolysaccharide	IEA
GO:0033209	Process	Tumor necrosis factor-mediated signaling pathway	IDA	25038658
GO:0033256	Component	I-kappaB/NF-kappaB complex	IMP	16938301
GO:0034142	Process	Toll-like receptor 4 signaling pathway	IDA	25355951
GO:0034142	Process	Toll-like receptor 4 signaling pathway	IDA	7479976
GO:0034142	Process	Toll-like receptor 4 signaling pathway	IEA
GO:0035994	Process	Response to muscle stretch	IEA
GO:0038061	Process	Non-canonical NF-kappaB signal transduction	IDA	8413223, 12048232
GO:0038061	Process	Non-canonical NF-kappaB signal transduction	IDA	1493333, 25038658
GO:0042127	Process	Regulation of cell population proliferation	IEA
GO:0042308	Process	Negative regulation of protein import into nucleus	IMP	16938301
GO:0042802	Function	Identical protein binding	IPI	16951195
GO:0043124	Process	Negative regulation of canonical NF-kappaB signal transduction	IBA
GO:0043124	Process	Negative regulation of canonical NF-kappaB signal transduction	IDA	1493333, 25038658
GO:0043124	Process	Negative regulation of canonical NF-kappaB signal transduction	IEA
GO:0043330	Process	Response to exogenous dsRNA	IEA
GO:0045638	Process	Negative regulation of myeloid cell differentiation	IEA
GO:0045746	Process	Negative regulation of Notch signaling pathway	IEA
GO:0045893	Process	Positive regulation of DNA-templated transcription	IEA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IDA	23729669
GO:0050729	Process	Positive regulation of inflammatory response	IDA	25038658
GO:0050853	Process	B cell receptor signaling pathway	IEA
GO:0051059	Function	NF-kappaB binding	IBA
GO:0051059	Function	NF-kappaB binding	IDA	7628694, 7796813, 7878466, 11931770
GO:0051059	Function	NF-kappaB binding	IPI	7739562, 10353611
GO:0060261	Process	Positive regulation of transcription initiation by RNA polymerase II	IEA
GO:0070417	Process	Cellular response to cold	NAS	16750872
GO:0070427	Process	Nucleotide-binding oligomerization domain containing 1 signaling pathway	IEA
GO:0070431	Process	Nucleotide-binding oligomerization domain containing 2 signaling pathway	IEA
GO:0070498	Process	Interleukin-1-mediated signaling pathway	IMP	26020802
GO:0071345	Process	Cellular response to cytokine stimulus	IEA
GO:0071356	Process	Cellular response to tumor necrosis factor	IEA
GO:0140311	Function	Protein sequestering activity	IBA
GO:0140311	Function	Protein sequestering activity	IDA	1493333, 7628694, 7796813
GO:0140311	Function	Protein sequestering activity	IMP	16938301
GO:0140311	Function	Protein sequestering activity	TAS	9865694
GO:0140416	Function	Transcription regulator inhibitor activity	IEA
GO:0140416	Function	Transcription regulator inhibitor activity	IMP	16938301
GO:1900016	Process	Negative regulation of cytokine production involved in inflammatory response	IDA	16968406
GO:1900016	Process	Negative regulation of cytokine production involved in inflammatory response	IDA	16968406

Other IDs

• MIM: 164008
• HGNC: 7797
• e!Ensembl: ENSG00000100906

Protein

• UniProt ID: P25963
• Protein name: NF-kappa-B inhibitor alpha (I-kappa-B-alpha) (IkB-alpha) (IkappaBalpha) (Major histocompatibility complex enhancer-binding protein MAD3)
• Protein function: Inhibits the activity of dimeric NF-kappa-B/REL complexes by trapping REL (RELA/p65 and NFKB1/p50) dimers in the cytoplasm by masking their nuclear localization signals (PubMed:1493333, PubMed:36651806, PubMed:7479976). On cellular stimulation b
• PDB: 1IKN, 1NFI, 6TTU, 6Y1J
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00023	Ank	111 → 142	Ankyrin repeat	Repeat
  PF00023	Ank	143 → 175	Ankyrin repeat	Repeat
  PF00023	Ank	182 → 213	Ankyrin repeat	Repeat
  PF00023	Ank	216 → 248	Ankyrin repeat	Repeat

• Sequence:

  MFQAAERPQEWAMEGPRDGLKKERLLDDRHDSGLDSMKDEEYEQMVKELQEIRLEPQEVP
  RGSEPWKQQLTEDGDSFLHLAIIHEEKALTMEVIRQVKGDLAFLNFQNNLQQTPLHLAVI
  TNQPEIAEALLGAGCDPELRDFRGNTPLHLACEQGCLASVGVLTQSCTTPHLHSILKATN
  YNGHTCLHLASIHGYLGIVELLVSLGADVNAQEPCNGRTALHLAVDLQNPDLVSLLLKCG
  ADVNRVTYQGYSPYQLTWGRPSTRIQQQLGQLTLENLQMLPESEDEESYDTESEFTEFTE
  DELPYDDCVFGGQRLTL

• Sequence length: 317

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
Ectodermal dysplasia and immunodeficiency 2	Pathogenic	rs886041411, rs2502188897, rs2502188602, rs28933100, rs121913665, rs1566591076, rs1566591086, rs1566591082	RCV005090329 RCV003325300 RCV003330336 RCV000015040 RCV000015042 RCV000721149 RCV000721150 RCV000721151 RCV000721152	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Acute myeloid leukemia	Conflicting classifications of pathogenicity; Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Adrenocortical carcinoma, hereditary	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ARTERIOSCLEROSIS	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ASTHMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BRAIN ISCHEMIA	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BRONCHOPULMONARY DYSPLASIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARCINOMA, HEPATOCELLULAR	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOVASCULAR DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHILDHOOD ONSET ASTHMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHRONIC OBSTRUCTIVE PULMONARY DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal cancer	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CROHN'S DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DYSENTERY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ECTODERMAL DYSPLASIA AND IMMUNE DEFICIENCY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY, AUTOSOMAL DOMINANT	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ECTODERMAL DYSPLASIA, HYPOHIDROTIC, WITH IMMUNE DEFICIENCY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GIANT CELL GLIOBLASTOMA	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLIOSARCOMA	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEARING LOSS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEPATITIS B	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEPATITIS C	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HODGKIN DISEASE	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INFLAMMATORY BOWEL DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Inherited Immunodeficiency Diseases	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INTERLEUKIN 1 RECEPTOR ANTAGONIST DEFICIENCY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LIVER CIRRHOSIS, EXPERIMENTAL	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYOCARDIAL ISCHEMIA	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NASOPHARYNGEAL CARCINOMA	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NFKBIA-related disorder	Likely benign; Conflicting classifications of pathogenicity; Uncertain significance; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PANCREATIC NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostate cancer	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PSORIASIS	—	CTD, Disgenet, GWAS catalog CTD, Disgenet, GWAS catalog CTD, Disgenet, GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RESPIRATORY SYSTEM DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RHEUMATOID ARTHRITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sterile multifocal osteomyelitis with periostitis and pustulosis	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ULCERATIVE COLITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VASCULITIS	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Acute pancreatitis	Pancreatitis	BEFREE	10930447		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma	Adenocarcinoma	BEFREE	12725325		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma	Adenocarcinoma	LHGDN	15073126		★☆☆☆☆ Found in Text Mining only
Adult Hodgkin Lymphoma	Hodgkin Lymphoma	BEFREE	10637284, 12525885, 14595753, 15858823, 19223558, 20193848		★☆☆☆☆ Found in Text Mining only
Adult Hodgkin Lymphoma	Hodgkin Lymphoma	CTD_human_DG	19223558		★☆☆☆☆ Found in Text Mining only
Adult Medulloblastoma	Medulloblastoma	BEFREE	18235219		★☆☆☆☆ Found in Text Mining only
Agammaglobulinemia	Agammaglobulinemia	BEFREE	15604887		★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	31984950	Stimulate	★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	37759083	Associate	★☆☆☆☆ Found in Text Mining only
Amyotrophic lateral sclerosis 1	Amyotrophic lateral sclerosis	Pubtator	12437573	Associate	★☆☆☆☆ Found in Text Mining only
Angina Stable	Angina pectoris	Pubtator	26075620	Associate	★☆☆☆☆ Found in Text Mining only
Anhidrosis	Anhidrosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Anhydrotic Ectodermal Dysplasias	Hypohidrotic ectodermal dysplasia	BEFREE	15604887, 29155098		★☆☆☆☆ Found in Text Mining only
Anhydrotic Ectodermal Dysplasias	Hypohidrotic ectodermal dysplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ankylosing spondylitis	Ankylosing Spondylitis	BEFREE	19363678		★☆☆☆☆ Found in Text Mining only
ANOPHTHALMIA AND PULMONARY HYPOPLASIA	Syndromic microphthalmia	BEFREE	28867179		★☆☆☆☆ Found in Text Mining only
Arteriosclerosis	Arteriosclerosis	BEFREE	27391154		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Arthritis	Arthritis	BEFREE	17701919		★☆☆☆☆ Found in Text Mining only
Arthritis Infectious	Infective arthritis	Pubtator	20740673	Associate	★☆☆☆☆ Found in Text Mining only
Arthritis Juvenile	Juvenile arthritis	Pubtator	37445800, 38001449	Associate	★☆☆☆☆ Found in Text Mining only
Arthritis Psoriatic	Psoriatic arthritis	Pubtator	20953189, 22298274, 30176044, 31815120	Associate	★☆☆☆☆ Found in Text Mining only
Arthritis Psoriatic	Psoriatic arthritis	Pubtator	39991156	Inhibit	★☆☆☆☆ Found in Text Mining only
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	30897288, 31338093, 32584515, 32723749, 32972460	Associate	★☆☆☆☆ Found in Text Mining only
Arthritis, Psoriatic	Psoriatic Arthritis	BEFREE	16142871, 26626624, 30176044		★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	BEFREE	20674643		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Asthma	Asthma	Pubtator	23126502, 27420950	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ataxia Telangiectasia	Ataxia Telangiectasia	BEFREE	7777860		★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	BEFREE	27391154		★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	Pubtator	28672844, 29512862, 33282009, 7775482	Associate	★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune Diseases	BEFREE	31077459		★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune disease	Pubtator	32231389	Associate	★☆☆☆☆ Found in Text Mining only
B-Cell Lymphomas	B-Cell Lymphoma	BEFREE	30688264		★☆☆☆☆ Found in Text Mining only
Barrett Esophagus	Barrett esophagus	Pubtator	17403674	Associate	★☆☆☆☆ Found in Text Mining only
Behcet Syndrome	Behcet Syndrome	BEFREE	20164548, 25367031		★☆☆☆☆ Found in Text Mining only
Behcet Syndrome	Behcet disease	Pubtator	20164548, 25367031, 36333776	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	BEFREE	12859235, 18235219		★☆☆☆☆ Found in Text Mining only
Brain Neoplasms	Brain neoplasms	Pubtator	36007522	Inhibit	★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	CTD_human_DG	16298037		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	17701919, 22939885, 25559835		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	10373501, 18483177, 23892407, 25670016, 34197030, 35441810, 35999846, 37377974, 37584152, 40715365, 8995233, 9681829	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Breast Neoplasms	Breast neoplasm	Pubtator	22939885	Inhibit	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bronchiolitis	Bronchiolitis	BEFREE	23487427		★☆☆☆☆ Found in Text Mining only
Bronchopulmonary Dysplasia	Bronchopulmonary Dysplasia	BEFREE	23487427		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Burkitt Lymphoma	Burkitt`s Lymphoma	LHGDN	15979856		★☆☆☆☆ Found in Text Mining only
Cachexia	Cachexia	Pubtator	19857958	Associate	★☆☆☆☆ Found in Text Mining only
Cancer of Nasopharynx	Nasopharyngeal Cancer	ORPHANET_DG	27647909		★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	20132559, 21175304, 22509384, 23439505, 24707489	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoid Tumor	Carcinoid tumor	Pubtator	29422640	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	14760757, 16024612, 19331697, 19797428, 22590978, 23457512, 24578542, 25223483, 31746344, 36169173	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Large Cell	Large cell carcinoma	Pubtator	30793508	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Mucoepidermoid	Mucoepidermoid carcinoma	Pubtator	27682876	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	10423407, 12725325		★☆☆☆☆ Found in Text Mining only
Carcinoma Ovarian Epithelial	Epithelial ovarian carcinoma	Pubtator	19500386	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	10491412, 34133712, 9694722	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Small Cell	Small cell carcinoma	Pubtator	30414472	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	19500386, 25659662		★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular Diseases	GWASCAT_DG	30595370		★☆☆☆☆ Found in Text Mining only
Carotid Artery Diseases	Carotid artery disease	BEFREE	17115186		★☆☆☆☆ Found in Text Mining only
cervical cancer	Cervical Cancer	BEFREE	25773394		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervix carcinoma	Cervix carcinoma	BEFREE	25773394		★☆☆☆☆ Found in Text Mining only
Childhood asthma	Asthma	BEFREE	23487427, 27420950		★☆☆☆☆ Found in Text Mining only
Childhood Medulloblastoma	Medulloblastoma	BEFREE	18235219		★☆☆☆☆ Found in Text Mining only
Cholangiocarcinoma	Cholangiocarcinoma	Pubtator	29620225	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Choreoathetosis, Hypothyroidism, And Neonatal Respiratory Distress	Choreoathetosis, Hypothyroidism, And Neonatal Respiratory Distress	BEFREE	29477862		★☆☆☆☆ Found in Text Mining only
Christ-Siemens-Touraine syndrome	Hypohidrotic Ectodermal Dysplasia, X-Linked	BEFREE	15604887, 29155098, 31683054		★☆☆☆☆ Found in Text Mining only
Colitis	Colitis	BEFREE	18716880		★☆☆☆☆ Found in Text Mining only
Colitis	Colitis	LHGDN	18716880		★☆☆☆☆ Found in Text Mining only
Colitis Ulcerative	Ulcerative colitis	Pubtator	23285182	Inhibit	★☆☆☆☆ Found in Text Mining only
Colitis Ulcerative	Ulcerative colitis	Pubtator	24971461	Associate	★☆☆☆☆ Found in Text Mining only
Colitis Ulcerative	Ulcerative colitis	Pubtator	24971461	Stimulate	★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	12901803		★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic neoplasm	Pubtator	18032824	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	12901803, 17354114, 17701919, 23996241		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	12901803, 15188000, 15770215, 19172851, 23451189, 31802830	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal Neoplasms	LHGDN	17354114		★☆☆☆☆ Found in Text Mining only
Combined immunodeficiency	Severe combined immunodeficiency disease	BEFREE	31683054		★☆☆☆☆ Found in Text Mining only
Common Cold	Common cold	Pubtator	33851594	Associate	★☆☆☆☆ Found in Text Mining only
Coronary Arteriosclerosis	Coronary Arteriosclerosis	BEFREE	26075620, 30902734		★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	BEFREE	26075620, 30902734		★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	Pubtator	26075620	Associate	★☆☆☆☆ Found in Text Mining only
Coronary heart disease	Coronary Heart Disease	BEFREE	26075620, 30902734		★☆☆☆☆ Found in Text Mining only
Craniosynostosis	Craniosynostosis	BEFREE	28337255		★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn disease	Pubtator	10517905, 34629811	Associate	★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn Disease	BEFREE	13680285, 17333217, 17593226, 17701919, 18716880, 24971461		★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn Disease	LHGDN	13680285		★☆☆☆☆ Found in Text Mining only
Cystic Fibrosis	Cystic fibrosis	Pubtator	10433940, 15516493	Associate	★☆☆☆☆ Found in Text Mining only
Degenerative polyarthritis	Arthritis	BEFREE	30468518		★☆☆☆☆ Found in Text Mining only
Dejerine-Sottas Disease (disorder)	Charcot-Marie-Tooth disease	BEFREE	29677563		★☆☆☆☆ Found in Text Mining only
Dermatologic disorders	Dermatologic Disorders	BEFREE	31683054		★☆☆☆☆ Found in Text Mining only
Diabetes Gestational	Gestational diabetes	Pubtator	33019392, 35046894	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	17002901, 17318773		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	18633101, 25511473	Inhibit	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	BEFREE	15247916, 17701919		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	17002901, 29601852		★☆☆☆☆ Found in Text Mining only
Diabetes, Autoimmune	Autoimmune Diabetes	BEFREE	17318773		★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathy	Diabetic Nephropathy	BEFREE	17002901		★☆☆☆☆ Found in Text Mining only
Diabetic Retinopathy	Diabetic Retinopathy	BEFREE	31816325		★☆☆☆☆ Found in Text Mining only
Dysgammaglobulinemia	Dysfibrinogenemia	Pubtator	36292785	Associate	★☆☆☆☆ Found in Text Mining only
Ectodermal Dysplasia	Ectodermal dysplasia	Pubtator	14523047, 15337789, 18412279, 18523147, 20652730, 36292785	Associate	★☆☆☆☆ Found in Text Mining only
Ectodermal Dysplasia	Ectodermal Dysplasia	BEFREE	18412279, 23708964, 31683054		★☆☆☆☆ Found in Text Mining only
Ectodermal Dysplasia 1 Anhidrotic	Ectodermal dysplasia	Pubtator	14523047	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, 28629746	Associate	★☆☆☆☆ Found in Text Mining only
Ectodermal Dysplasia, Anhidrotic, With T-Cell Immunodeficiency, Autosomal Dominant	Ectodermal Dysplasia	UNIPROT_DG	14523047, 18412279		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ectodermal Dysplasia, Anhidrotic, With T-Cell Immunodeficiency, Autosomal Dominant	Ectodermal Dysplasia	GENOMICS_ENGLAND_DG	18412279, 23239958		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ectodermal Dysplasia, Anhidrotic, With T-Cell Immunodeficiency, Autosomal Dominant	Ectodermal Dysplasia	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ectodermal Dysplasia, Anhidrotic, With T-Cell Immunodeficiency, Autosomal Dominant	Ectodermal Dysplasia	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ectodermal dysplasia, hypohidrotic, with immune deficiency	Ectodermal Dysplasia	BEFREE	15661018, 21734245, 23864385, 28597146, 28702714		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ectodermal dysplasia, hypohidrotic, with immune deficiency	Ectodermal Dysplasia	ORPHANET_DG	18412279		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Endometriosis	Endometriosis	Pubtator	31551156	Stimulate	★☆☆☆☆ Found in Text Mining only
Epithelial ovarian cancer	Ovarian cancer	BEFREE	19500386		★☆☆☆☆ Found in Text Mining only
Esophageal Squamous Cell Carcinoma	Esophageal squamous cell carcinoma	Pubtator	16680372, 24324738, 29379981, 35417037, 35913453, 36466860	Associate	★☆☆☆☆ Found in Text Mining only
Esophageal Squamous Cell Carcinoma	Esophageal squamous cell carcinoma	Pubtator	24324738	Inhibit	★☆☆☆☆ Found in Text Mining only
Familial cylindromatosis	Familial cylindromatosis	Pubtator	32901872	Stimulate	★☆☆☆☆ Found in Text Mining only
Familial Mediterranean Fever	Familial mediterranean fever	Pubtator	18577712	Associate	★☆☆☆☆ Found in Text Mining only
Frontal bossing	Frontal bossing	HPO_DG			★☆☆☆☆ Found in Text Mining only
Giant Cell Glioblastoma	Giant Cell Glioblastoma	ORPHANET_DG	25215581		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Giant cell glioblastoma	Giant Cell Glioblastoma	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gingivitis	Gingival diseases	Pubtator	33851594	Associate	★☆☆☆☆ Found in Text Mining only
Glaucoma	Glaucoma	Pubtator	19816602	Stimulate	★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	19725919, 21175304, 24330732, 25215581, 36007522, 36430394	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	21175304, 23908450, 25215581, 31390836		★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	21175304, 23908450, 25215581, 31390836		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	10638962, 12518988, 27052952, 37343523	Associate	★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	LHGDN	12518988		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	27538656		★☆☆☆☆ Found in Text Mining only
gliosarcoma	Gliosarcoma	ORPHANET_DG	25215581		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gliosarcoma	Gliosarcoma	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glomerulonephritis IGA	Iga nephropathy	Pubtator	39696012	Associate	★☆☆☆☆ Found in Text Mining only
Hashimoto Disease	Hashimoto Disease	BEFREE	24703107		★☆☆☆☆ Found in Text Mining only
Hearing Loss	Hearing loss	Pubtator	37062025	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Heart Failure	Heart failure	Pubtator	37334672	Associate	★☆☆☆☆ Found in Text Mining only
Hematologic Neoplasms	Hematologic Neoplasms	BEFREE	12525885		★☆☆☆☆ Found in Text Mining only
Hematological Disease	Hematological Disease	BEFREE	15845452		★☆☆☆☆ Found in Text Mining only
Hepatitis B	Hepatitis b	Pubtator	25223483, 29093318	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatitis B Chronic	Hepatitis b	Pubtator	29093318	Associate	★☆☆☆☆ Found in Text Mining only
Hepatitis C	Hepatitis c	Pubtator	33785040	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hirschsprung Disease	Hirschsprung disease	Pubtator	39199380	Inhibit	★☆☆☆☆ Found in Text Mining only
Hodgkin Disease	Hodgkin Disease	BEFREE	10340377, 10556199, 10637284, 12525885, 14595753, 15858823, 19223558, 20193848		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hodgkin Disease	Hodgkin disease	Pubtator	10556199, 10637284, 19223558, 19648161	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hodgkin Disease	Hodgkin Disease	CTD_human_DG	19223558		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hodgkin lymphoma, lymphocyte depletion	Hodgkin Lymphoma, Lymphocyte Depletion	CTD_human_DG	19223558		★☆☆☆☆ Found in Text Mining only
Hyperglycemia	Hyperglycemia	BEFREE	18290856		★☆☆☆☆ Found in Text Mining only
Hyperinsulinism	Hyperinsulinism	BEFREE	18290856		★☆☆☆☆ Found in Text Mining only
Hyperoxia	Hyperoxia	Pubtator	14617515	Inhibit	★☆☆☆☆ Found in Text Mining only
Hypodontia	Hypodontia	BEFREE	29477862		★☆☆☆☆ Found in Text Mining only
Hypodontia	Hypodontia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypohidrosis	Hypohidrosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypohidrotic ectodermal dysplasia with immunodeficiency	Hyper-IgM Immunodeficiency, With Hypohidrotic Ectodermal Dysplasia	Orphanet			★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	14534291, 17114296, 20157762, 23799118, 9892650	Associate	★☆☆☆☆ Found in Text Mining only
Immune System Diseases	Immune system disease	Pubtator	37197664	Associate	★☆☆☆☆ Found in Text Mining only
Infertility Male	Male infertility	Pubtator	34580317	Associate	★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory Bowel Disease	BEFREE	18716880		★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory Bowel Disease	LHGDN	18716880		★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory bowel disease	Pubtator	34978330, 9616307	Associate	★☆☆☆☆ Found in Text Mining only
Insulin Resistance	Diabetes mellitus, type 2	Pubtator	19798070	Associate	★☆☆☆☆ Found in Text Mining only
Iron Overload	Iron overload	Pubtator	25500022	Inhibit	★☆☆☆☆ Found in Text Mining only
Irritable Bowel Syndrome	Irritable Bowel Syndrome	BEFREE	18716880		★☆☆☆☆ Found in Text Mining only
Ischemic Stroke	Ischemic stroke	Pubtator	39394477	Stimulate	★☆☆☆☆ Found in Text Mining only
Juvenile arthritis	Arthritis	BEFREE	31683054		★☆☆☆☆ Found in Text Mining only
Kidney Failure, Acute	Kidney Failure	BEFREE	26477820		★☆☆☆☆ Found in Text Mining only
Leukemia	Leukemia	Pubtator	10090947, 12393936	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	23669290, 32349161, 35289472	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	16171566		★☆☆☆☆ Found in Text Mining only
Leukoplakia, Oral	Leukoplakia	BEFREE	27510021		★☆☆☆☆ Found in Text Mining only
Lip and Oral Cavity Carcinoma	Lip and Oral Cavity Carcinoma	BEFREE	11827262, 22509384, 29635862		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	11059688, 11147598, 17701919, 19797428, 23457512		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	CTD_human_DG	22022477		★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis	Liver Cirrhosis	BEFREE	19797428		★☆☆☆☆ Found in Text Mining only
Lung diseases	Lung Diseases	BEFREE	23487427, 9379002		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung Neoplasms	LHGDN	18215193		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	18636537, 30396235, 33863364, 36912495	Associate	★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Systemic	Lupus Erythematosus	BEFREE	17701919, 18071880, 24070858		★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Systemic	Lupus Erythematosus	LHGDN	18071880		★☆☆☆☆ Found in Text Mining only
Lupus Nephritis	Lupus nephritis	Pubtator	18285351	Associate	★☆☆☆☆ Found in Text Mining only
Lymphocyte Rich Classical Hodgkin Lymphoma	Classical Hodgkin lymphoma	CTD_human_DG	19223558		★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	BEFREE	12377412		★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	Pubtator	15979856, 22393418	Associate	★☆☆☆☆ Found in Text Mining only
Malignant Glioma	Glioma	BEFREE	27538656		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	CTD_human_DG	16298037		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	17701919, 22939885, 25559835		★☆☆☆☆ 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	10423407, 12725325		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of mouth	Malignant neoplasm of mouth	BEFREE	11827262, 22509384, 29635862		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of nasopharynx	Nasopharyngeal carcinoma	ORPHANET_DG	27647909		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	19500386, 25659662		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	12618762		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	CTD_human_DG	15861417		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	26068031		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	28670959		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	24578542, 26488500, 27052952, 27510021, 28356925, 28670959		★☆☆☆☆ Found in Text Mining only
Malignant tumor of cervix	Cervical Tumor	BEFREE	25773394		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	12901803		★☆☆☆☆ Found in Text Mining only
Mammary Carcinoma, Human	Marfan Syndrome	CTD_human_DG	16298037		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	CTD_human_DG	16298037		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms, Human	Mammary Neoplasms	CTD_human_DG	16298037		★☆☆☆☆ Found in Text Mining only
Medulloblastoma	Medulloblastoma	BEFREE	18235219		★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	11775058	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Melanoma	Pubtator	15016307, 17141217	Inhibit	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
melanoma	Melanoma	LHGDN	17492467		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Meningioma	Meningioma	Pubtator	37515398	Associate	★☆☆☆☆ Found in Text Mining only
Mixed Cellularity Hodgkin Lymphoma	Classical Hodgkin lymphoma	CTD_human_DG	19223558		★☆☆☆☆ Found in Text Mining only
Mouth Neoplasms	Mouth neoplasm	Pubtator	22509384, 25951128	Associate	★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	BEFREE	10216101, 12377412, 16540234, 17701919		★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	Pubtator	10216101, 11872748, 12393461, 29441489, 30387821, 31964975, 32977994	Associate	★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	LHGDN	12377412		★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple Sclerosis	BEFREE	12058256, 17701919		★☆☆☆☆ Found in Text Mining only
Myelodysplastic Syndromes	Myelodysplastic syndrome	Pubtator	35289472	Associate	★☆☆☆☆ Found in Text Mining only
Myeloid Leukemia, Chronic	Myeloid Leukemia	BEFREE	28356925		★☆☆☆☆ Found in Text Mining only
Myeloproliferative disease	Myeloproliferative disorder	BEFREE	15845452		★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial Infarction	BEFREE	10930447, 20304615		★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial infarction	Pubtator	37334672	Associate	★☆☆☆☆ Found in Text Mining only
Myocardial Ischemia	Myocardial Ischemia	CTD_human_DG	16214533		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nasopharyngeal carcinoma	Nasopharyngeal Carcinoma	BEFREE	23868181, 27647909		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nasopharyngeal Carcinoma	Nasopharyngeal carcinoma	Pubtator	26161396, 27647909, 28098136, 28380444, 37062025	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nasopharyngeal carcinoma	Nasopharyngeal Carcinoma	ORPHANET_DG	27647909		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nasopharyngeal carcinoma	Nasopharyngeal Carcinoma	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Necrotizing enterocolitis in fetus OR newborn	Necrotizing Enterocolitis	BEFREE	21529841, 28013313		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	10340377, 10455913, 17354114, 17701919, 18397753, 21175304, 22259056, 22509384, 23457512, 27052952, 27401816, 27538656, 30804118, 7936641		★☆☆☆☆ Found in Text Mining only
Nephritis Interstitial	Interstitial nephritis	Pubtator	18285351	Associate	★☆☆☆☆ Found in Text Mining only
Nephrotic Syndrome	Nephrotic syndrome	Pubtator	15882260	Associate	★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	Pubtator	23422506, 38282862	Associate	★☆☆☆☆ Found in Text Mining only
Nodular Lymphocyte Predominant Hodgkin Lymphoma	Classical Hodgkin lymphoma	CTD_human_DG	19223558		★☆☆☆☆ Found in Text Mining only
Nodular Lymphocyte Predominant Hodgkin Lymphoma	Classical Hodgkin lymphoma	BEFREE	19648161		★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	26104294, 30231667		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	18633101	Inhibit	★☆☆☆☆ Found in Text Mining only
Oral Submucous Fibrosis	Oral Submucous Fibrosis	BEFREE	27510021		★☆☆☆☆ Found in Text Mining only
Osteoarthritis	Osteoarthritis	Pubtator	26191174, 31364869, 38401067	Associate	★☆☆☆☆ Found in Text Mining only
Osteoarthritis Hip	Osteoarthritis	Pubtator	29980729	Associate	★☆☆☆☆ Found in Text Mining only
Osteoarthritis of hip	Osteoarthritis Of Hip	BEFREE	29980729		★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	BEFREE	29201210		★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	Pubtator	35791093	Associate	★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	Pubtator	36438897, 39190380	Associate	★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	BEFREE	19500386, 25659662		★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	18667446, 20969748, 25659662	Associate	★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	25659662	Inhibit	★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	12618762		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasm	Pancreatic Neoplasm	CTD_human_DG	15861417		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	12824895, 17050666, 24504166, 25238288, 28724890, 39513319	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Parkinson Disease	Parkinson disease	BEFREE	17701919		★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	Pubtator	33161109	Associate	★☆☆☆☆ Found in Text Mining only
Parkinson Disease Secondary	Secondary parkinson disease	Pubtator	32401747	Associate	★☆☆☆☆ Found in Text Mining only
Peg-shaped teeth	Peg-Shaped Teeth	HPO_DG			★☆☆☆☆ Found in Text Mining only
Peptic Ulcer	Peptic ulcer disease	Pubtator	33851594	Associate	★☆☆☆☆ Found in Text Mining only
Periodontitis	Periodontitis	Pubtator	33851594	Associate	★☆☆☆☆ Found in Text Mining only
Polycystic Ovary Syndrome	Polycystic ovary syndrome	Pubtator	32140727	Inhibit	★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	12481431, 26068031		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	12393936, 12771931, 26068031, 26907477, 28208611	Associate	★☆☆☆☆ Found in Text Mining only
Psoriasis	Psoriasis	Pubtator	20953189, 22298274, 30176044	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Psoriasis	Psoriasis	CTD_human_DG	20953190		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Psoriasis	Psoriasis	BEFREE	23897274, 24070858, 30176044		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pulmonary Arterial Hypertension	Pulmonary arterial hypertension	Pubtator	36690956	Associate	★☆☆☆☆ Found in Text Mining only
Pulmonary Disease Chronic Obstructive	Chronic obstructive pulmonary disease	Pubtator	19717478	Inhibit	★☆☆☆☆ Found in Text Mining only
Pulmonary Disease Chronic Obstructive	Chronic obstructive pulmonary disease	Pubtator	22363678, 26617776	Associate	★☆☆☆☆ Found in Text Mining only
Pustulosis of Palms and Soles	Palmoplantar Pustules	CTD_human_DG	20953190		★☆☆☆☆ Found in Text Mining only
Renal Insufficiency	Renal Insufficiency	BEFREE	29601852		★☆☆☆☆ Found in Text Mining only
Respiratory Distress Syndrome, Adult	Respiratory Distress Syndrome	BEFREE	17235259		★☆☆☆☆ Found in Text Mining only
Respiratory Tract Infections	Respiratory system infectious disease	Pubtator	26688820	Associate	★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	17284228, 20563630, 30468518		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Rheumatoid Arthritis	Rheumatoid arthritis	LHGDN	17284228		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoidosis	Sarcoidosis	Pubtator	21177920	Inhibit	★☆☆☆☆ Found in Text Mining only
Sarcoma	Sarcoma	BEFREE	23285182		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sjogren's Syndrome	Sjogren syndrome	Pubtator	26380323	Associate	★☆☆☆☆ Found in Text Mining only
Skin Diseases	Skin disease	Pubtator	20164548	Associate	★☆☆☆☆ Found in Text Mining only
Sporadic Breast Carcinoma	Breast Carcinoma	BEFREE	12406554		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	BEFREE	17701919, 22509384, 27510021		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of esophagus	Esophagus Neoplasm	BEFREE	24324738, 30537494		★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	16818647, 20695076, 22509384, 22641218, 25951128	Associate	★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of lung	Lung carcinoma	BEFREE	10423407		★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	28670959		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	11310828, 19857958, 20132559, 23402362, 23870553, 28670959, 30097586, 31556767, 32021099, 39505541	Associate	★☆☆☆☆ Found in Text Mining only
Stroke	Stroke	Pubtator	21114618	Associate	★☆☆☆☆ Found in Text Mining only
Stroke	Stroke	Pubtator	39394477	Stimulate	★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple negative breast cancer	Pubtator	34197030	Associate	★☆☆☆☆ Found in Text Mining only
Ulcerative Colitis	Ulcerative colitis	BEFREE	17701919, 18716880, 23285182, 24971461		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Undifferentiated carcinoma	Carcinoma	BEFREE	15475567		★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	28545028	Associate	★☆☆☆☆ Found in Text Mining only
Vitreoretinopathy Proliferative	Vitreoretinopathy	Pubtator	33509158	Associate	★☆☆☆☆ Found in Text Mining only
Waldenstrom Macroglobulinemia	Waldenstrom macroglobulinemia	Pubtator	22931316	Associate	★☆☆☆☆ Found in Text Mining only