ITGB2 (integrin subunit beta 2)

Gene

• Entrez ID: 3689
• Gene name: Integrin subunit beta 2
• Gene symbol: ITGB2
• Synonyms (NCBI Gene): CD18, LAD, LCAMB, LFA-1, MAC-1, MF17, MFI7
• Chromosome: 21
• Chromosome location: 21q22.3
• Summary: This gene encodes an integrin beta chain, which combines with multiple different alpha chains to form different integrin heterodimers. Integrins are integral cell-surface proteins that participate in cell adhesion as well as cell-surface mediated signalli

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs137852609	G>A	Pathogenic	Missense variant, coding sequence variant
rs137852610	T>C,G	Pathogenic	Missense variant, coding sequence variant
rs137852611	A>G	Pathogenic	Missense variant, coding sequence variant
rs137852612	C>T	Pathogenic	Missense variant, coding sequence variant
rs137852613	T>C	Pathogenic	Missense variant, coding sequence variant
rs137852614	G>A	Pathogenic	Missense variant, coding sequence variant
rs137852615	C>A,T	Pathogenic, not-provided	Missense variant, coding sequence variant
rs137852616	C>T	Pathogenic	Missense variant, coding sequence variant
rs137852617	A>G	Pathogenic	Missense variant, coding sequence variant
rs137852618	C>T	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs148877937	G>A	Pathogenic	Coding sequence variant, stop gained
rs179363873	C>T	Pathogenic, not-provided	Missense variant, coding sequence variant
rs201752283	C>A,T	Pathogenic	Splice donor variant
rs483352813	->G	Pathogenic	Frameshift variant, coding sequence variant
rs483352814	C>T	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs483352815	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs483352816	C>A,T	Pathogenic	Stop gained, missense variant, coding sequence variant
rs483352817	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs483352818	A>G	Pathogenic	Splice donor variant
rs483352819	T>-	Pathogenic	Frameshift variant, coding sequence variant
rs748574145	G>A,T	Pathogenic	Synonymous variant, stop gained, coding sequence variant
rs755600323	C>A,T	Pathogenic	Stop gained, missense variant, coding sequence variant
rs772471533	G>A,T	Likely-pathogenic	Synonymous variant, stop gained, coding sequence variant
rs942375725	C>T	Pathogenic	Stop gained, coding sequence variant
rs1064794297	C>G,T	Likely-pathogenic	Coding sequence variant, missense variant
rs1064794298	A>G	Likely-pathogenic	Coding sequence variant, missense variant
rs1131691763	C>T	Pathogenic	Splice donor variant
rs1568879914	->GA	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1601284455	C>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1601302490	G>-	Pathogenic	Frameshift variant, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT016972	hsa-miR-335-5p	Microarray	18185580
MIRT021220	hsa-miR-146a-5p	Microarray	18057241
MIRT028899	hsa-miR-26b-5p	Microarray	19088304
MIRT2018311	hsa-miR-136	CLIP-seq
MIRT2018312	hsa-miR-518a-5p	CLIP-seq
MIRT2018313	hsa-miR-527	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
HIF1A	Activation	15235127
KLF5	Activation	22632819
RUNX1	Unknown	12855590
SP1	Unknown	8670251
SPI1	Activation	9295016
SPI1	Unknown	8670251

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001540	Function	Amyloid-beta binding	IBA
GO:0001540	Function	Amyloid-beta binding	ISS
GO:0001774	Process	Microglial cell activation	NAS	18981141
GO:0001851	Function	Complement component C3b binding	ISS
GO:0002523	Process	Leukocyte migration involved in inflammatory response	IEA
GO:0005178	Function	Integrin binding	IBA
GO:0005178	Function	Integrin binding	NAS	20199584
GO:0005178	Function	Integrin binding	TAS	8020569
GO:0005515	Function	Protein binding	IPI	12208882, 12796480, 16831868, 17321526, 18083624, 19234221, 19828450, 20033057, 20183869, 20679211, 21193407, 25416956, 25910212, 28807980, 31515488, 32296183, 32814053
GO:0005886	Component	Plasma membrane	IDA
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS
GO:0005925	Component	Focal adhesion	IBA
GO:0006898	Process	Receptor-mediated endocytosis	ISS
GO:0006909	Process	Phagocytosis	IEA
GO:0006911	Process	Phagocytosis, engulfment	ISS
GO:0006915	Process	Apoptotic process	NAS	12885943
GO:0006954	Process	Inflammatory response	NAS	12885943
GO:0007155	Process	Cell adhesion	IDA	19703720
GO:0007155	Process	Cell adhesion	IEA
GO:0007155	Process	Cell adhesion	TAS	1694220
GO:0007159	Process	Leukocyte cell-cell adhesion	IBA
GO:0007159	Process	Leukocyte cell-cell adhesion	IDA	12885943
GO:0007159	Process	Leukocyte cell-cell adhesion	IEA
GO:0007160	Process	Cell-matrix adhesion	IBA
GO:0007160	Process	Cell-matrix adhesion	IDA	18083624
GO:0007160	Process	Cell-matrix adhesion	IMP	19029120
GO:0007160	Process	Cell-matrix adhesion	NAS	19693543
GO:0007229	Process	Integrin-mediated signaling pathway	IBA
GO:0007229	Process	Integrin-mediated signaling pathway	IEA
GO:0007229	Process	Integrin-mediated signaling pathway	IMP	28807980
GO:0007229	Process	Integrin-mediated signaling pathway	NAS	12885943, 18083624, 19693543
GO:0007229	Process	Integrin-mediated signaling pathway	TAS	7514637
GO:0007267	Process	Cell-cell signaling	NAS	12885943
GO:0008305	Component	Integrin complex	IBA
GO:0008305	Component	Integrin complex	NAS	12885943
GO:0008305	Component	Integrin complex	TAS	1683838
GO:0008360	Process	Regulation of cell shape	NAS	12885943
GO:0009897	Component	External side of plasma membrane	NAS	20199584
GO:0009986	Component	Cell surface	HDA	23981064
GO:0009986	Component	Cell surface	IBA
GO:0009986	Component	Cell surface	IDA	19029120, 19234460, 20563599, 23620790
GO:0009986	Component	Cell surface	IEA
GO:0016020	Component	Membrane	HDA	19946888
GO:0016020	Component	Membrane	IEA
GO:0019901	Function	Protein kinase binding	IBA
GO:0019901	Function	Protein kinase binding	IPI	12885943
GO:0030369	Function	ICAM-3 receptor activity	IMP	19029120
GO:0030593	Process	Neutrophil chemotaxis	IBA
GO:0030593	Process	Neutrophil chemotaxis	IDA	12885943
GO:0030593	Process	Neutrophil chemotaxis	IEA
GO:0031072	Function	Heat shock protein binding	IPI	12496435
GO:0031623	Process	Receptor internalization	ISS
GO:0032930	Process	Positive regulation of superoxide anion generation	IGI	21193407
GO:0032930	Process	Positive regulation of superoxide anion generation	NAS	18981141
GO:0033627	Process	Cell adhesion mediated by integrin	IBA
GO:0034113	Process	Heterotypic cell-cell adhesion	IMP	20563599
GO:0034687	Component	Integrin alphaL-beta2 complex	IDA	19029120
GO:0034687	Component	Integrin alphaL-beta2 complex	NAS	19693543
GO:0034688	Component	Integrin alphaM-beta2 complex	IEA
GO:0034688	Component	Integrin alphaM-beta2 complex	IPI	18083624
GO:0034688	Component	Integrin alphaM-beta2 complex	ISS
GO:0034689	Component	Integrin alphaX-beta2 complex	IPI	20033057
GO:0034689	Component	Integrin alphaX-beta2 complex	TAS	8020569
GO:0035579	Component	Specific granule membrane	TAS
GO:0035987	Process	Endodermal cell differentiation	IEP	23154389
GO:0038024	Function	Cargo receptor activity	ISS
GO:0043113	Process	Receptor clustering	IMP	19029120
GO:0043235	Component	Receptor complex	IDA	23382219
GO:0043315	Process	Positive regulation of neutrophil degranulation	IGI	21193407
GO:0043542	Process	Endothelial cell migration	IEA
GO:0044853	Component	Plasma membrane raft	IDA	21193407
GO:0044877	Function	Protein-containing complex binding	IEA
GO:0045121	Component	Membrane raft	IEA
GO:0045123	Process	Cellular extravasation	IEA
GO:0045429	Process	Positive regulation of nitric oxide biosynthetic process	IEA
GO:0045766	Process	Positive regulation of angiogenesis	IEA
GO:0045963	Process	Negative regulation of dopamine metabolic process	NAS	18981141
GO:0046872	Function	Metal ion binding	IEA
GO:0050730	Process	Regulation of peptidyl-tyrosine phosphorylation	IDA	12885943
GO:0050839	Function	Cell adhesion molecule binding	IEA
GO:0050839	Function	Cell adhesion molecule binding	IMP	19029120
GO:0070062	Component	Extracellular exosome	HDA	20458337
GO:0070821	Component	Tertiary granule membrane	TAS
GO:0071404	Process	Cellular response to low-density lipoprotein particle stimulus	ISS
GO:0090314	Process	Positive regulation of protein targeting to membrane	NAS	18981141
GO:0097242	Process	Amyloid-beta clearance	ISS
GO:0098609	Process	Cell-cell adhesion	IEA
GO:0098609	Process	Cell-cell adhesion	ISS	12652296
GO:0098742	Process	Cell-cell adhesion via plasma-membrane adhesion molecules	NAS	20199584
GO:0101003	Component	Ficolin-1-rich granule membrane	TAS
GO:1903561	Component	Extracellular vesicle	HDA	24769233
GO:1904996	Process	Positive regulation of leukocyte adhesion to vascular endothelial cell	ISS
GO:1990266	Process	Neutrophil migration	IMP	28807980

Other IDs

• MIM: 600065
• HGNC: 6155
• e!Ensembl: ENSG00000160255

Protein

• UniProt ID: P05107
• Protein name: Integrin beta-2 (Cell surface adhesion glycoproteins LFA-1/CR3/p150,95 subunit beta) (Complement receptor C3 subunit beta) (CD antigen CD18)
• Protein function: Integrin ITGAL/ITGB2 is a receptor for ICAM1, ICAM2, ICAM3 and ICAM4. Integrin ITGAL/ITGB2 is also a receptor for the secreted form of ubiquitin-like protein ISG15; the interaction is mediated by ITGAL (PubMed:29100055). Integrins ITGAM/ITGB2 an
• PDB: 1L3Y, 1YUK, 2JF1, 2P26, 2P28, 2V7D, 3K6S, 3K71, 3K72, 4NEH, 4NEN, 5E6R, 5E6S, 5E6U, 5E6V, 5E6W, 5E6X, 5ES4, 5XR1, 5ZAZ, 7P2D, 7USL, 7USM
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF17205	PSI_integrin	23 → 74	Integrin plexin domain	Domain
  PF00362	Integrin_beta	122 → 367	Integrin beta chain VWA domain	Domain
  PF07965	Integrin_B_tail	622 → 700	Integrin beta tail domain	Domain
  PF08725	Integrin_b_cyt	724 → 767	Integrin beta cytoplasmic domain	Domain

• Tissue specificity: TISSUE SPECIFICITY: Leukocytes (PubMed:23775590). Expressed in neutrophils (at protein level) (PubMed:21193407, PubMed:28807980). {ECO:0000269|PubMed:21193407, ECO:0000269|PubMed:23775590, ECO:0000269|PubMed:28807980}.
• Sequence:

  MLGLRPPLLALVGLLSLGCVLSQECTKFKVSSCRECIESGPGCTWCQKLNFTGPGDPDSI
  RCDTRPQLLMRGCAADDIMDPTSLAETQEDHNGGQKQLSPQKVTLYLRPGQAAAFNVTFR
  RAKGYPIDLYYLMDLSYSMLDDLRNVKKLGGDLLRALNEITESGRIGFGSFVDKTVLPFV
  NTHPDKLRNPCPNKEKECQPPFAFRHVLKLTNNSNQFQTEVGKQLISGNLDAPEGGLDAM
  MQVAACPEEIGWRNVTRLLVFATDDGFHFAGDGKLGAILTPNDGRCHLEDNLYKRSNEFD
  YPSVGQLAHKLAENNIQPIFAVTSRMVKTYEKLTEIIPKSAVGELSEDSSNVVQLIKNAY
  NKLSSRVFLDHNALPDTLKVTYDSFCSNGVTHRNQPRGDCDGVQINVPITFQVKVTATEC
  IQEQSFVIRALGFTDIVTVQVLPQCECRCRDQSRDRSLCHGKGFLECGICRCDTGYIGKN
  CECQTQGRSSQELEGSCRKDNNSIICSGLGDCVCGQCLCHTSDVPGKLIYGQYCECDTIN
  CERYNGQVCGGPGRGLCFCGKCRCHPGFEGSACQCERTTEGCLNPRRVECSGRGRCRCNV
  CECHSGYQLPLCQECPGCPSPCGKYISCAECLKFEKGPFGKNCSAACPGLQLSNNPVKGR
  TCKERDSEGCWVAYTLEQQDGMDRYLIYVDESRECVAGPNIAAIVGGTVAGIVLIGILLL
  VIWKALIHLSDLREYRRFEKEKLKSQWNNDNPLFKSATTTVMNPKFAES

• Sequence length: 769

Pathways

KEGG:

Rap1 signaling pathway
Phagosome
Hippo signaling pathway
Cell adhesion molecules
Complement and coagulation cascades
Neutrophil extracellular trap formation
Natural killer cell mediated cytotoxicity
Leukocyte transendothelial migration
Regulation of actin cytoskeleton
Pertussis
Legionellosis
Leishmaniasis
Malaria
Amoebiasis
Staphylococcus aureus infection
Tuberculosis
Human T-cell leukemia virus 1 infection
Rheumatoid arthritis
Viral myocarditis

Reactome:

Toll Like Receptor 4 (TLR4) Cascade
Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell
Cell surface interactions at the vascular wall
Integrin cell surface interactions
Interleukin-4 and Interleukin-13 signaling
Neutrophil degranulation

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
Colon adenocarcinoma	Likely pathogenic	rs755834578	RCV005925625	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Glioma susceptibility 1	Likely pathogenic; Pathogenic	rs201752283	RCV005887806	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
ITGB2-related disorder	Pathogenic; Likely pathogenic	rs137852609, rs2517165274	RCV003407313 RCV003404198	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Leukocyte adhesion deficiency 1	Pathogenic; Likely pathogenic	rs2146499719, rs2146538658, rs483352816, rs483352817, rs483352818, rs483352819, rs483352813, rs483352814, rs483352815, rs201752283, rs774228764, rs1464015799, rs1293268696, rs2146498117, rs2146504324, rs2146511363, rs1230903176, rs755834578, rs1227331406, rs2517129036, rs2517165576, rs757352177, rs760990531, rs2517152384, rs2517094156, rs1307126211, rs2517122868, rs778074755, rs137852609, rs137852610, rs137852611, rs137852612, rs387906411, rs137852613, rs137852614, rs137852615, rs137852616, rs137852617, rs137852618, rs2517138279, rs748574145, rs2084110970, rs2517165274, rs2517088205, rs200159456, rs2517138391, rs2517121897, rs2517153214, rs2517115331, rs767284889, rs1131691763, rs1568879914, rs772471533, rs1568883795, rs148877937, rs1601302490, rs179363873, rs2083735130, rs2083734400, rs2083749716, rs183204825, rs1349812924, rs1466186480, rs147318988	RCV001594430 RCV001374421 RCV000087106 RCV000087109 RCV000087110 RCV000087112 RCV000087120 RCV000087122 RCV000087126 RCV000087127 RCV000087128 RCV001782317 RCV001782318 RCV001823479 RCV001881512 RCV001939446 RCV001942806 RCV001941551 RCV002016726 RCV001958652 RCV002284057 RCV002508351 RCV003064635 RCV002657962 RCV002721693 RCV002785604 RCV002775949 RCV002917481 RCV002979934 RCV000799618 RCV000010067 RCV000010068 RCV000010069 RCV000010070 RCV000010073 RCV000010074 RCV000010075 RCV000705990 RCV000010078 RCV000768241 RCV000010080 RCV003522952 RCV003338144 RCV005104334 RCV003634639 RCV003634534 RCV003634862 RCV003635242 RCV003633013 RCV003634191 RCV003845602 RCV003522981 RCV000761243 RCV000853065 RCV000778919 RCV001226542 RCV000791985 RCV000087118 RCV000087123 RCV001035117 RCV001198593 RCV001213039 RCV001212520 RCV001239067 RCV001880121 RCV001295723	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Leukocyte adhesion deficiency 3	Likely pathogenic; Pathogenic	rs2146531776, rs2084110970	RCV003337835 RCV003338143	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Lung cancer	Likely pathogenic; Pathogenic	rs201752283	RCV005887807	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Thyroid cancer, nonmedullary, 1	Pathogenic	rs2517129036	RCV005930268	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Acute myeloid leukemia	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BEHCET SYNDROME	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BRAIN NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CALCINOSIS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Likely benign; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHLORACNE	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHRONIC SKIN ULCER	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL LEUKOCYTE ADHERENCE DEFICIENCY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORONARY RESTENOSIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DERMATITIS	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEART VALVE DISEASE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEART VALVE DISEASES	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEART VALVE PROLAPSE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERSENSITIVITY	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LEUKEMIA, PROMYELOCYTIC, ACUTE	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Leukocyte adhesion deficiency	Likely benign; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LEUKOCYTE ADHESION DEFICIENCY TYPE 1	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LEUKOCYTE ADHESION DEFICIENCY TYPE I	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LEUKOCYTE ADHESION DEFICIENCY, TYPE I	—	HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LEUKOCYTE ADHESION DEFICIENCY, TYPE III	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LEUKOCYTE DISORDERS	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LIVER CIRRHOSIS, EXPERIMENTAL	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEPHROSIS	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SKIN ULCER	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 1 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Acute monocytic leukemia	Monocytic Leukemia	BEFREE	29852400		★☆☆☆☆ Found in Text Mining only
Acute Promyelocytic Leukemia	Promyelocytic Leukemia	BEFREE	15108165, 7815843		★☆☆☆☆ Found in Text Mining only
Acute Promyelocytic Leukemia	Promyelocytic Leukemia	LHGDN	16764927		★☆☆☆☆ Found in Text Mining only
Acute Promyelocytic Leukemia	Promyelocytic Leukemia	CTD_human_DG	16764927		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma	Adenocarcinoma	BEFREE	7497527		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	BEFREE	28109288		★☆☆☆☆ Found in Text Mining only
Adenoma	Adenoma	BEFREE	23803696		★☆☆☆☆ Found in Text Mining only
Adult T-Cell Lymphoma/Leukemia	T-Cell Lymphoma/Leukemia	BEFREE	11321434, 1356935, 9573029		★☆☆☆☆ Found in Text Mining only
Aggressive Periodontitis	Aggressive Periodontitis	BEFREE	3298610, 7775666, 7823277		★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	23186989	Stimulate	★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	25197660, 33773368, 35954209, 37348871, 38554950	Associate	★☆☆☆☆ Found in Text Mining only
Amnesia	Amnesia	BEFREE	29738851		★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis	Amyotrophic Lateral Sclerosis	BEFREE	28302159		★☆☆☆☆ Found in Text Mining only
Anemia Sickle Cell	Sickle cell anemia	Pubtator	15164377, 15308324, 30630982	Associate	★☆☆☆☆ Found in Text Mining only
Anemia, Sickle Cell	Anemia	BEFREE	21173096		★☆☆☆☆ Found in Text Mining only
Angina Unstable	Angina pectoris	Pubtator	12025897, 7594025	Associate	★☆☆☆☆ Found in Text Mining only
Aortic Aneurysm Thoracic	Thoracic aortic aneurysm	Pubtator	37883426	Associate	★☆☆☆☆ Found in Text Mining only
Aortic Aneurysm, Abdominal	Aortic Aneurysm	BEFREE	29853563		★☆☆☆☆ Found in Text Mining only
Arteriosclerosis	Arteriosclerosis	BEFREE	21998326, 24048900, 24688120, 28122051, 28500072, 31157518		★☆☆☆☆ Found in Text Mining only
Arthritis	Arthritis	BEFREE	15749905, 18390736, 22933624		★☆☆☆☆ Found in Text Mining only
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	10193433, 37644537, 39379962	Stimulate	★☆☆☆☆ Found in Text Mining only
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	10873967, 1575573, 8536370	Associate	★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	BEFREE	10835320		★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	Pubtator	7596088	Associate	★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	Pubtator	21030716, 23918401, 32787365, 34925641, 35241081, 37218975	Associate	★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	BEFREE	21998326, 24048900, 24688120, 28122051, 28500072, 31157518		★☆☆☆☆ Found in Text Mining only
Atrial Fibrillation	Atrial Fibrillation	BEFREE	21846681, 23437133, 24349426, 30898447		★☆☆☆☆ Found in Text Mining only
Atrial Fibrillation	Atrial fibrillation	Pubtator	32389013, 36653368	Associate	★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune Diseases	BEFREE	11385505, 22206678, 26683153, 28784685, 29427909		★☆☆☆☆ Found in Text Mining only
Autoimmune thyroiditis	Autoimmune Thyroiditis	BEFREE	11435733		★☆☆☆☆ Found in Text Mining only
B-Cell Lymphomas	B-Cell Lymphoma	BEFREE	19360456		★☆☆☆☆ Found in Text Mining only
B-CELL MALIGNANCY, LOW-GRADE	Lymphocytic Leukemia	BEFREE	29099772		★☆☆☆☆ Found in Text Mining only
Behcet Syndrome	Behcet Syndrome	BEFREE	16428075, 25155097, 29052524		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Behcet Syndrome	Behcet Syndrome	CTD_human_DG	8712863		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Benign neoplasm of brain, unspecified	Brain Neoplasms	CTD_human_DG	27935819		★☆☆☆☆ Found in Text Mining only
Biliary Atresia	Biliary Atresia	BEFREE	23921155		★☆☆☆☆ Found in Text Mining only
Biliary Atresia	Biliary atresia	Pubtator	34646264	Associate	★☆☆☆☆ Found in Text Mining only
Blast Phase	Blast phase chronic myelogenous leukemia	BEFREE	8400300		★☆☆☆☆ Found in Text Mining only
Blood Coagulation Disorders	Blood Coagulation Disorders	BEFREE	31329860		★☆☆☆☆ Found in Text Mining only
Bone Diseases	Bone disease	Pubtator	17900349	Associate	★☆☆☆☆ Found in Text Mining only
Brain Ischemia	Brain ischemia	Pubtator	15067196	Associate	★☆☆☆☆ Found in Text Mining only
Brain Neoplasms	Brain neoplasms	Pubtator	26849056	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Brain Neoplasms	Brain Neoplasms	CTD_human_DG	27935819		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Brain Tumor, Primary	Brain Neoplasms	CTD_human_DG	27935819		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	1347193, 20953905, 27866849, 29941860, 30310926		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	29941860, 35441740, 36274054, 36531485	Associate	★☆☆☆☆ Found in Text Mining only
Bronchopulmonary Dysplasia	Bronchopulmonary dysplasia	Pubtator	14711863	Associate	★☆☆☆☆ Found in Text Mining only
Burkitt Lymphoma	Burkitt lymphoma	Pubtator	1691936	Associate	★☆☆☆☆ Found in Text Mining only
Burkitt Lymphoma	Burkitt`s Lymphoma	BEFREE	3033649, 9020371		★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	37603520, 7927492	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Pancreatic Ductal	Pancreatic ductal carcinoma	Pubtator	24807963	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	19568411, 31950034, 36634939, 36793506, 36854280	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	26563750, 30094101		★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular Diseases	BEFREE	22325375		★☆☆☆☆ Found in Text Mining only
Carney Complex	Carney Complex	BEFREE	29440406		★☆☆☆☆ Found in Text Mining only
Carotid Artery Diseases	Carotid artery disease	Pubtator	29595698, 34140767, 37861500	Associate	★☆☆☆☆ Found in Text Mining only
Carotid Atherosclerosis	Carotid Atherosclerosis	BEFREE	29595698		★☆☆☆☆ Found in Text Mining only
CD59 Deficiency	CD59 Deficiency	BEFREE	19758139		★☆☆☆☆ Found in Text Mining only
Cerebrovascular accident	Stroke	BEFREE	11935032, 12406006, 29327562, 29336875, 30616910, 30898447		★☆☆☆☆ Found in Text Mining only
Childhood Acute Lymphoblastic Leukemia	Lymphoblastic Leukemia	BEFREE	23182707		★☆☆☆☆ Found in Text Mining only
Chronic granulomatous disease	Granulomatous Disease	BEFREE	18155283		★☆☆☆☆ Found in Text Mining only
Chronic Kidney Diseases	Kidney Disease	BEFREE	28071653		★☆☆☆☆ Found in Text Mining only
Chronic Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	21465189, 29099772, 7519509		★☆☆☆☆ Found in Text Mining only
Chronic Obstructive Airway Disease	Chronic Obstructive Pulmonary Disease	LHGDN	11953106		★☆☆☆☆ Found in Text Mining only
Chronic Obstructive Airway Disease	Chronic Obstructive Pulmonary Disease	BEFREE	30633902, 9817722		★☆☆☆☆ Found in Text Mining only
Chronic venous insufficiency	Venous Insufficiency	BEFREE	10086854, 8609252		★☆☆☆☆ Found in Text Mining only
Classical Lissencephalies and Subcortical Band Heterotopias	Lissencephaly	Pubtator	32922405	Associate	★☆☆☆☆ Found in Text Mining only
Coffin-Siris syndrome	Coffin-Siris Syndrome	BEFREE	10607485		★☆☆☆☆ Found in Text Mining only
Colitis Ulcerative	Ulcerative colitis	Pubtator	21921589	Inhibit	★☆☆☆☆ Found in Text Mining only
Colitis Ulcerative	Ulcerative colitis	Pubtator	39328405	Stimulate	★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	23803696, 29207960, 31625931		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal Neoplasms	LHGDN	18076013, 18306933		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	23803696	Associate	★☆☆☆☆ Found in Text Mining only
Common Variable Immunodeficiency	Common variable immunodeficiency	Pubtator	1733636	Associate	★☆☆☆☆ Found in Text Mining only
Congenital atresia of extrahepatic bile duct	Extrahepatic Biliary Atresia	BEFREE	23921155		★☆☆☆☆ Found in Text Mining only
Congenital disorder of glycosylation, type 2C	Congenital disorder of glycosylation	BEFREE	10410995, 10571012, 11326280, 11529501, 9662431		★☆☆☆☆ Found in Text Mining only
Congenital Disorders of Glycosylation	Congenital disorder of glycosylation	BEFREE	11326280		★☆☆☆☆ Found in Text Mining only
Congenital leukocyte adherence deficiency	Congenital Leukocyte Adherence Deficiency	BEFREE	10512685, 10564719, 10712675, 10886250, 10936446, 11326279, 11528520, 11703376, 12377933, 12476046, 12749013, 14512306, 1590804, 16455955, 1680882, 1684295, 16956371, 19234460, 1968909, 1972597, 20164857, 20216991, 20357244, 20529581, 20859258, 21103413, 21536861, 22564402, 23531552, 24344107, 25741691, 25854317, 30919141, 7509236, 7705401, 7823277, 7901025, 7902162, 8697667, 8826696, 8938844, 9473215, 9884339		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital leukocyte adherence deficiency	Congenital Leukocyte Adherence Deficiency	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congestive heart failure	Congestive Heart Failure	BEFREE	29992755, 30898447		★☆☆☆☆ Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	BEFREE	31002125		★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	Pubtator	12717693, 14695458, 17458880	Associate	★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	BEFREE	29563352, 31372277		★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease Autosomal Dominant 1	Coronary artery disease	Pubtator	37923103	Associate	★☆☆☆☆ Found in Text Mining only
Coronary Disease	Coronary artery disease	Pubtator	37923103	Associate	★☆☆☆☆ Found in Text Mining only
Coronary Restenosis	Coronary restenosis	Pubtator	12717693, 8890805	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Coronary Stenosis	Coronary stenosis	Pubtator	14695458	Associate	★☆☆☆☆ Found in Text Mining only
Coronary Stenosis	Coronary Stenosis	BEFREE	26951555		★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn Disease	LHGDN	12139949		★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn disease	Pubtator	37331566	Associate	★☆☆☆☆ Found in Text Mining only
Cutaneous Mastocytosis	Cutaneous mastocytosis	BEFREE	28493867		★☆☆☆☆ Found in Text Mining only
Deficiency of butyryl-CoA dehydrogenase	Deficiency Of Butyryl-CoA Dehydrogenase	BEFREE	28218398		★☆☆☆☆ Found in Text Mining only
Deficiency of glucose-6-phosphate dehydrogenase	Deficiency Of Glucose-6-Phosphate Dehydrogenase	BEFREE	31374327		★☆☆☆☆ Found in Text Mining only
Degenerative polyarthritis	Arthritis	BEFREE	28664830, 29658578		★☆☆☆☆ Found in Text Mining only
Dementia	Dementia	BEFREE	28779628		★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	BEFREE	31728039		★☆☆☆☆ Found in Text Mining only
Dermatitis	Dermatitis	BEFREE	12819024, 14734620, 24190659		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dermatitis	Dermatitis	CTD_human_DG	9653089		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dermatologic disorders	Dermatologic Disorders	BEFREE	12819024, 14734620, 18390736, 9160089		★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	25858935	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	14623906, 25723521, 30898447		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	14623906, 25723521, 30898447		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes mellitus	Pubtator	35592524, 36765354	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 1	Diabetes mellitus, type 1	Pubtator	35626661	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	34813915, 35281591	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	BEFREE	1673028		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	LHGDN	15258348		★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathies	Diabetic neuropathy	Pubtator	34124269, 34735495	Associate	★☆☆☆☆ Found in Text Mining only
Diffuse panbronchiolitis	Diffuse Panbronchiolitis	BEFREE	9030883		★☆☆☆☆ Found in Text Mining only
Diffuse panbronchiolitis	Diffuse panbronchiolitis	Pubtator	9030883	Associate	★☆☆☆☆ Found in Text Mining only
Disorder of eye	Disorder Of Eye	BEFREE	27906544		★☆☆☆☆ Found in Text Mining only
Down Syndrome	Down syndrome	Pubtator	11678899, 2842253, 31772502	Associate	★☆☆☆☆ Found in Text Mining only
Down Syndrome	Down Syndrome	BEFREE	1979957, 27166175, 2964960		★☆☆☆☆ Found in Text Mining only
Down Syndrome	Down syndrome	Pubtator	2964960	Stimulate	★☆☆☆☆ Found in Text Mining only
Dry Eye Syndromes	Dry Eye Syndromes	BEFREE	27906544		★☆☆☆☆ Found in Text Mining only
Enterocolitis	Enterocolitis	BEFREE	18675632		★☆☆☆☆ Found in Text Mining only
Enterocolitis	Enterocolitis	LHGDN	18675632		★☆☆☆☆ Found in Text Mining only
Eosinophilia	Eosinophilia	Pubtator	39682685	Inhibit	★☆☆☆☆ Found in Text Mining only
Epithelial ovarian cancer	Ovarian cancer	BEFREE	26563750		★☆☆☆☆ Found in Text Mining only
Fahr's disease	Fahr's disease	Pubtator	39740729	Associate	★☆☆☆☆ Found in Text Mining only
Fatigue Syndrome Chronic	Fatigue syndrome	Pubtator	26032326	Associate	★☆☆☆☆ Found in Text Mining only
Fatty Liver	Fatty Liver	BEFREE	28873429		★☆☆☆☆ Found in Text Mining only
Fatty Liver Disease	Fatty Liver	BEFREE	30936549		★☆☆☆☆ Found in Text Mining only
Frontotemporal dementia	Frontotemporal dementia	BEFREE	28779628		★☆☆☆☆ Found in Text Mining only
Gingivitis	Gingivitis	BEFREE	7775666		★☆☆☆☆ Found in Text Mining only
Gingivitis	Gingivitis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	34301218	Associate	★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	19423540, 33371165, 34313821, 36714574	Associate	★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	BEFREE	25858935		★☆☆☆☆ Found in Text Mining only
Glomerulonephritis	Glomerulonephritis	BEFREE	28219886, 30712924		★☆☆☆☆ Found in Text Mining only
Glomerulonephritis IGA	Iga nephropathy	Pubtator	32894197, 34861820, 36978098	Associate	★☆☆☆☆ Found in Text Mining only
Graft-vs-Host Disease	Graft-Vs-Host Disease	BEFREE	17928532		★☆☆☆☆ Found in Text Mining only
Graves Disease	Graves Disease	BEFREE	11443213		★☆☆☆☆ Found in Text Mining only
Guillain-Barre Syndrome	Guillain-Barre Syndrome	BEFREE	28706510		★☆☆☆☆ Found in Text Mining only
Guillain-Barre Syndrome, Familial	Guillain-Barre Syndrome	BEFREE	28706510		★☆☆☆☆ Found in Text Mining only
Hairy Cell Leukemia	Hairy Cell Leukemia	BEFREE	8621914		★☆☆☆☆ Found in Text Mining only
Hashimoto Disease	Hashimoto Disease	BEFREE	11435733		★☆☆☆☆ Found in Text Mining only
Hashimoto Disease	Hashimoto disease	Pubtator	34522174	Associate	★☆☆☆☆ Found in Text Mining only
Heart Diseases	Heart disease	Pubtator	37923103	Associate	★☆☆☆☆ Found in Text Mining only
Heart failure	Heart Failure	BEFREE	29992755		★☆☆☆☆ Found in Text Mining only
Heart Failure	Heart failure	Pubtator	37923103	Associate	★☆☆☆☆ Found in Text Mining only
Heart valve disease	Cardiac valvular disease	CTD_human_DG	21335463		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hematologic Neoplasms	Hematologic neoplasm	Pubtator	16252253	Associate	★☆☆☆☆ Found in Text Mining only
Henoch-Schoenlein Purpura	Henoch-Schonlein Nephritis	BEFREE	21269583		★☆☆☆☆ Found in Text Mining only
Hepatitis B Chronic	Hepatitis b	Pubtator	7706478	Stimulate	★☆☆☆☆ Found in Text Mining only
Hidradenitis Suppurativa	Hidradenitis suppurativa	BEFREE	30136871		★☆☆☆☆ Found in Text Mining only
Hirschsprung Disease	Hirschsprung Disease	BEFREE	18675632		★☆☆☆☆ Found in Text Mining only
Hypercholesterolemia	Hypercholesterolemia	BEFREE	11385505		★☆☆☆☆ Found in Text Mining only
Hypercholesterolemia, Familial	Hypercholesterolemia	BEFREE	28024183		★☆☆☆☆ Found in Text Mining only
Hyperemia	Hyperemia	BEFREE	31589144		★☆☆☆☆ Found in Text Mining only
Hypereosinophilic Syndrome	Hypereosinophilic syndrome	Pubtator	1968426	Inhibit	★☆☆☆☆ Found in Text Mining only
Hyperlipidemia	Hyperlipidemia	BEFREE	30898447		★☆☆☆☆ Found in Text Mining only
Hyperlipoproteinemia Type II	Hyperlipoproteinemia	Pubtator	25903419	Associate	★☆☆☆☆ Found in Text Mining only
Hyperlipoproteinemia Type IIa	Hyperlipoproteinemia	BEFREE	28024183		★☆☆☆☆ Found in Text Mining only
Hyperlipoproteinemia Type III	Hyperlipoproteinemia	BEFREE	28336558		★☆☆☆☆ Found in Text Mining only
Hyperplasia	Hyperplasia	Pubtator	35586138	Associate	★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	BEFREE	24349426, 25723521, 30898447		★☆☆☆☆ Found in Text Mining only
Hypertriglyceridemia	Hypertriglyceridemia	Pubtator	21030716	Associate	★☆☆☆☆ Found in Text Mining only
Idiopathic Pulmonary Fibrosis	Idiopathic pulmonary fibrosis	Pubtator	21309737	Associate	★☆☆☆☆ Found in Text Mining only
Immune System Diseases	Immune System Diseases	BEFREE	29427909		★☆☆☆☆ Found in Text Mining only
Immune System Diseases	Immune system disease	Pubtator	36353617	Associate	★☆☆☆☆ Found in Text Mining only
Immunologic Deficiency Syndromes	Immunologic Deficiency Syndromes	BEFREE	1968909, 3519653, 3528378		★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory bowel disease	Pubtator	17875809, 27886173	Associate	★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory Bowel Disease	BEFREE	25135596		★☆☆☆☆ Found in Text Mining only
Inflammatory dermatosis	Dermatitis	BEFREE	14734620, 24190659		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	BEFREE	11326280		★☆☆☆☆ Found in Text Mining only
Ischemic stroke	Ischemic Stroke	BEFREE	27246008		★☆☆☆☆ Found in Text Mining only
Keratoconjunctivitis Sicca	Keratoconjunctivitis Sicca	BEFREE	29958030		★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney Disease	BEFREE	12406006		★☆☆☆☆ Found in Text Mining only
Kidney Failure	Kidney Failure	BEFREE	28071653		★☆☆☆☆ Found in Text Mining only
Kidney Failure Chronic	Kidney failure	Pubtator	17136029	Associate	★☆☆☆☆ Found in Text Mining only
Kidney Failure, Acute	Kidney Failure	BEFREE	28071653		★☆☆☆☆ Found in Text Mining only
Leukemia	Leukemia	Pubtator	11937543, 22207686	Associate	★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	BEFREE	20618153, 25316678, 7662985, 7935981		★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid	Myeloid leukemia	Pubtator	12855590, 3118989	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	10882733, 2562920, 29720577, 34148032, 37904046	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia Promyelocytic Acute	Promyelocytic leukemia	Pubtator	15108165, 37168856, 9326242	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	10938404, 11264180, 24480914, 25106692		★☆☆☆☆ Found in Text Mining only
Leukemia, T-Cell	T-cell leukemia	BEFREE	1356935, 9573029		★☆☆☆☆ Found in Text Mining only
Leukocyte adhesion deficiency type 1	Leukocyte adhesion deficiency	Pubtator	10564719, 10712675, 1346132, 17244687, 1968911, 21103413, 24338230, 2464599, 25858935, 33391282, 34310689, 35281597, 36353617, 39522300, 9473215, 9884339	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Leukocyte adhesion deficiency type 1	Leukocyte adhesion deficiency	BEFREE	10712675, 10886250, 11703376, 11753075, 14512306, 1680882, 1684295, 17244687, 17651379, 17875809, 18216298, 1968909, 1972597, 20529581, 20549317, 20859258, 21103413, 21275758, 24338230, 24344107, 24670684, 25106692, 25703682, 26434744, 26497373, 26639818, 27056660, 28445705, 29548898, 30041527, 30412664, 30726742, 30778357, 31200085, 31374327, 7509236, 7705401, 7823277, 7901025, 9312170, 9473215, 9884339		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Leukocyte adhesion deficiency type 1	Leukocyte adhesion deficiency	CLINVAR_DG	12488604, 1590804, 17875809, 22134107, 25703682, 26639818, 7686755, 7705401		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Leukocyte adhesion deficiency type 1	Leukocyte adhesion deficiency	UNIPROT_DG	1346613, 1347532, 1352501, 1590804, 1694220, 1968911, 20529581, 20549317, 7509236, 7686755, 9884339		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Leukocyte adhesion deficiency type 1	Leukocyte adhesion deficiency	Pubtator	17875809, 20929531, 2665844, 9312170, 9884339	Inhibit	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Leukocyte adhesion deficiency type 1	Leukocyte adhesion deficiency	GENOMICS_ENGLAND_DG	7472832		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Leukocyte adhesion deficiency type 1	Leukocyte adhesion deficiency	ORPHANET_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Leukocyte adhesion deficiency type 1	Leukocyte adhesion deficiency	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Leukocyte adhesion deficiency type I	Leukocyte adhesion deficiency	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Leukocyte Adhesion Deficiency, Type III	Leukocyte adhesion deficiency	BEFREE	11714770, 20216991		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Leukocyte Disorders	Leukocyte disorders	Pubtator	1347532, 7662985	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Leukocyte Disorders	Leukocyte Disorders	CTD_human_DG	2880869, 9653089		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Leukocyte-Adhesion Deficiency Syndrome	Leukocyte adhesion deficiency	CTD_human_DG	9653089		★☆☆☆☆ Found in Text Mining only
Lewy Body Disease	Lewy Body Disease	BEFREE	28779628		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	29212547		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	32549766, 8080732	Associate	★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus	Lupus Erythematosus	BEFREE	12115234, 22933624, 30498196		★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus Systemic	Systemic lupus erythematosus	Pubtator	37143669, 7515335	Associate	★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Discoid	Lupus Erythematosus	BEFREE	12115234, 22933624, 30498196		★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Systemic	Lupus Erythematosus	BEFREE	12115234, 21454473, 22933624, 23753600, 2438304, 26683153, 28538512, 30498196		★☆☆☆☆ Found in Text Mining only
Lupus Nephritis	Lupus Nephritis	BEFREE	30540578, 30672908, 30712924		★☆☆☆☆ Found in Text Mining only
Lupus Vulgaris	Lupus Vulgaris	BEFREE	12115234, 22933624, 30498196		★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	Pubtator	11937543, 40464949	Associate	★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	BEFREE	27144517, 8668164, 9162223		★☆☆☆☆ Found in Text Mining only
Lymphoma, Small Noncleaved-Cell	Lymphoma	BEFREE	1546685		★☆☆☆☆ Found in Text Mining only
Lymphoma, T-Cell, Cutaneous	Lymphoma	BEFREE	23372669, 25957418, 27144517		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of brain	Brain Neoplasms	CTD_human_DG	27935819		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	1347193, 27866849, 29941860, 30310926		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of kidney	Kidney Cancer	BEFREE	31002125		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	30094101		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	29464045, 8945626		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	26563750, 26964570, 28159748, 29099772, 29312326		★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	LHGDN	18199704		★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	23039186, 8097520		★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	23039186	Associate	★☆☆☆☆ Found in Text Mining only
Mental Depression	Mental Depression	BEFREE	31728039		★☆☆☆☆ Found in Text Mining only
Mental Retardation	Mental retardation	BEFREE	11326280		★☆☆☆☆ Found in Text Mining only
Microvascular Angina	Microvascular Angina	BEFREE	28993120		★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	BEFREE	22996336		★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple sclerosis	Pubtator	10877455, 9883968	Associate	★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple Sclerosis	BEFREE	133588, 7507498		★☆☆☆☆ Found in Text Mining only
Muscular Dystrophy Duchenne	Duchenne muscular dystrophy	Pubtator	25935398	Associate	★☆☆☆☆ Found in Text Mining only
Mycosis Fungoides	Mycosis fungoides	Pubtator	1281618	Associate	★☆☆☆☆ Found in Text Mining only
Myelodysplastic Syndromes	Myelodysplastic syndrome	Pubtator	15147372	Inhibit	★☆☆☆☆ Found in Text Mining only
Myeloid Leukemia	Myeloid Leukemia	BEFREE	12855590		★☆☆☆☆ Found in Text Mining only
Myeloid Leukemia, Chronic	Myeloid Leukemia	BEFREE	8400300		★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial infarction	Pubtator	15067196, 17458880, 23918401, 9426029	Associate	★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial Infarction	BEFREE	31764615		★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial infarction	Pubtator	32389013	Stimulate	★☆☆☆☆ Found in Text Mining only
Myocarditis	Myocarditis	BEFREE	24920725, 31627327		★☆☆☆☆ Found in Text Mining only
Nasal Polyps	Nasal polyp	Pubtator	36466903	Associate	★☆☆☆☆ Found in Text Mining only
Nasopharyngeal Carcinoma	Nasopharyngeal carcinoma	Pubtator	33797657	Associate	★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	15356104, 18959781, 19261694, 20953905, 23803696, 25304374, 29099772, 29207960, 29312326, 29464004, 30258446, 31404549, 31511625, 31717819, 7497527, 7915992, 8031851		★☆☆☆☆ Found in Text Mining only
Neoplasms, Intracranial	Intracranial Neoplasm	CTD_human_DG	27935819		★☆☆☆☆ Found in Text Mining only
Nephrosis	Nephrosis	CTD_human_DG	12845231		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nephrotic Syndrome	Nephrotic syndrome	Pubtator	35173708	Associate	★☆☆☆☆ Found in Text Mining only
Neurodegenerative Diseases	Neurodegenerative disorder	Pubtator	25197660	Associate	★☆☆☆☆ Found in Text Mining only
Neurodegenerative Disorders	Neurodegenerative Disorders	BEFREE	29738851		★☆☆☆☆ Found in Text Mining only
Neutrophilia (disorder)	Neutrophilia	BEFREE	18216298, 25876705		★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	30259978		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	16034612	Stimulate	★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	18369341		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	18369341, 34555498	Associate	★☆☆☆☆ Found in Text Mining only
Osteoarthritis	Osteoarthritis	Pubtator	20109188, 29658578, 37379363, 37644537, 39379962	Associate	★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	BEFREE	29067460		★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	BEFREE	30260245		★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	Pubtator	30260245	Associate	★☆☆☆☆ Found in Text Mining only
Otitis Media	Otitis media	BEFREE	11390487		★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	BEFREE	30094101		★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	25304374, 29464045, 8945626		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	9566785	Associate	★☆☆☆☆ Found in Text Mining only
Pancreatitis	Pancreatitis	BEFREE	25214403		★☆☆☆☆ Found in Text Mining only
Papillary thyroid carcinoma	Papillary thyroid carcinoma	BEFREE	23388428		★☆☆☆☆ Found in Text Mining only
Paraparesis Tropical Spastic	Tropical spastic paraparesis	Pubtator	12028566	Stimulate	★☆☆☆☆ Found in Text Mining only
Parapsoriasis en Plaques	Parapsoriasis En Plaques	BEFREE	21704421		★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	BEFREE	28779628		★☆☆☆☆ Found in Text Mining only
Paroxysmal atrial fibrillation	Paroxysmal atrial fibrillation	BEFREE	28250286		★☆☆☆☆ Found in Text Mining only
Paroxysmal nocturnal hemoglobinuria	Paroxysmal nocturnal hemoglobinuria	BEFREE	19758139		★☆☆☆☆ Found in Text Mining only
Periodontal Diseases	Periodontal Diseases	BEFREE	9777587		★☆☆☆☆ Found in Text Mining only
Periodontitis	Periodontitis	BEFREE	25741691, 27181102		★☆☆☆☆ Found in Text Mining only
Periodontitis	Periodontitis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Peripheral Vascular Diseases	Vascular Diseases	BEFREE	31475906		★☆☆☆☆ Found in Text Mining only
Pick Disease of the Brain	Pica	BEFREE	28779628		★☆☆☆☆ Found in Text Mining only
Pituitary Neoplasms	Pituitary Neoplasms	BEFREE	21195692		★☆☆☆☆ Found in Text Mining only
Pleocytosis	CSF pleocytosis	BEFREE	18625913		★☆☆☆☆ Found in Text Mining only
Polycythemia Vera	Polycythemia Vera	BEFREE	12145463		★☆☆☆☆ Found in Text Mining only
Polyendocrinopathies, Autoimmune	Autoimmune Polyendocrinopathy	BEFREE	31353826		★☆☆☆☆ Found in Text Mining only
Precursor B-cell lymphoblastic leukemia	Lymphoblastic Leukemia	BEFREE	24920488		★☆☆☆☆ Found in Text Mining only
Presenile dementia	Senile Dementia	BEFREE	28779628		★☆☆☆☆ Found in Text Mining only
Primary biliary cirrhosis	Biliary Cirrhosis	BEFREE	16038038		★☆☆☆☆ Found in Text Mining only
Primary central nervous system lymphoma	Central Nervous System Lymphoma	BEFREE	22664113		★☆☆☆☆ Found in Text Mining only
Primary malignant neoplasm of brain	Brain Neoplasms	CTD_human_DG	27935819		★☆☆☆☆ Found in Text Mining only
Primary Myelofibrosis	Myelofibrosis	BEFREE	27595148		★☆☆☆☆ Found in Text Mining only
Psoriasiform eczema	Psoriasiform eczema	BEFREE	12819024, 18390736, 23418628, 24190659		★☆☆☆☆ Found in Text Mining only
Psoriasis	Psoriasis	BEFREE	11385505, 12819024, 18390736, 23418628, 24190659, 31211819		★☆☆☆☆ Found in Text Mining only
Psoriasis vulgaris	Psoriasis vulgaris	BEFREE	9160089		★☆☆☆☆ Found in Text Mining only
Pulmonary Disease Chronic Obstructive	Chronic obstructive pulmonary disease	Pubtator	9577287	Stimulate	★☆☆☆☆ Found in Text Mining only
Recurrent Brain Neoplasm	Brain Neoplasms	CTD_human_DG	27935819		★☆☆☆☆ Found in Text Mining only
Renal carcinoma	Renal Carcinoma	BEFREE	31002125		★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	BEFREE	31002125		★☆☆☆☆ Found in Text Mining only
Respiration Disorders	Respiration Disorders	BEFREE	18775487		★☆☆☆☆ Found in Text Mining only
Respiratory Distress Syndrome, Adult	Respiratory Distress Syndrome	BEFREE	7911707		★☆☆☆☆ Found in Text Mining only
Respiratory Failure	Respiratory Failure	BEFREE	28873200		★☆☆☆☆ Found in Text Mining only
Respiratory Tract Diseases	Respiratory Tract Diseases	BEFREE	18775487		★☆☆☆☆ Found in Text Mining only
Retinal Detachment	Retinal detachment	Pubtator	17284607, 33391282	Associate	★☆☆☆☆ Found in Text Mining only
Retinal Diseases	Retinal Diseases	BEFREE	28447099		★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	12643440, 19604442, 3263133		★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	LHGDN	12643440		★☆☆☆☆ Found in Text Mining only
Sarcoidosis	Sarcoidosis	Pubtator	1356670	Stimulate	★☆☆☆☆ Found in Text Mining only
Sarcoidosis	Sarcoidosis	Pubtator	7518366	Associate	★☆☆☆☆ Found in Text Mining only
Sciatic Neuropathy	Sciatic Neuropathy	BEFREE	30961664		★☆☆☆☆ Found in Text Mining only
Sepsis	Sepsis	Pubtator	17458880, 33391282	Associate	★☆☆☆☆ Found in Text Mining only
Septicemia	Septicemia	BEFREE	11390487, 20518087, 24576991, 27796667, 28714582, 7688151		★☆☆☆☆ Found in Text Mining only
Severe Combined Immunodeficiency	Severe combined immunodeficiency	Pubtator	9312170	Associate	★☆☆☆☆ Found in Text Mining only
Sicca Syndrome	Sjogren`s Syndrome	BEFREE	31001501		★☆☆☆☆ Found in Text Mining only
Sjogren's Syndrome	Sjogren syndrome	Pubtator	36171070	Associate	★☆☆☆☆ Found in Text Mining only
Skin Ulcer	Skin ulcer	Pubtator	33391282	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sleep Deprivation	Sleep deprivation	Pubtator	8652825	Stimulate	★☆☆☆☆ Found in Text Mining only
Small cell carcinoma of lung	Lung carcinoma	BEFREE	30975441		★☆☆☆☆ Found in Text Mining only
Small Cell Lung Carcinoma	Small cell lung carcinoma	Pubtator	37215577	Associate	★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	33204328	Stimulate	★☆☆☆☆ Found in Text Mining only
ST segment elevation myocardial infarction	ST Segment Elevation Myocardial Infarction	BEFREE	28218398, 28315181, 30131228		★☆☆☆☆ Found in Text Mining only
Steatohepatitis	Fatty Liver	BEFREE	28873429		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	38425243	Associate	★☆☆☆☆ Found in Text Mining only
Sweet Syndrome	Sweet Syndrome	BEFREE	31001501		★☆☆☆☆ Found in Text Mining only
synovial sarcoma	Synovial sarcoma	BEFREE	31001501		★☆☆☆☆ Found in Text Mining only
Systemic Scleroderma	Scleroderma	BEFREE	1718289, 29356883		★☆☆☆☆ Found in Text Mining only
Thrombasthenia	Thrombasthenia	BEFREE	19234463		★☆☆☆☆ Found in Text Mining only
Thrombocythemia, Essential	Thrombocythemia	BEFREE	12145463		★☆☆☆☆ Found in Text Mining only
Thrombocytopenia 1	Thrombocytopenia	Pubtator	20130240	Associate	★☆☆☆☆ Found in Text Mining only
Thrombosis	Thrombosis	Pubtator	14530377, 9426029	Associate	★☆☆☆☆ Found in Text Mining only
Thyroid Cancer Papillary	Papillary thyroid cancer	Pubtator	35185791	Associate	★☆☆☆☆ Found in Text Mining only
Thyroid Gland Follicular Adenoma	Thyroid Gland Follicular Adenoma	BEFREE	11443213		★☆☆☆☆ Found in Text Mining only
Tremor	Tremor	Pubtator	14695458	Associate	★☆☆☆☆ Found in Text Mining only
Tumoral calcinosis	Tumoral Calcinosis	CTD_human_DG	21335463		★☆☆☆☆ Found in Text Mining only
Undifferentiated carcinoma	Carcinoma	BEFREE	26563750		★☆☆☆☆ Found in Text Mining only
Unverricht-Lundborg Syndrome	Myoclonic Epilepsy	BEFREE	1641151		★☆☆☆☆ Found in Text Mining only
Uveal melanoma	Uveal Melanoma	BEFREE	30956760		★☆☆☆☆ Found in Text Mining only
Uveomeningoencephalitic Syndrome	Uveomeningoencephalitic syndrome	Pubtator	21297967	Inhibit	★☆☆☆☆ Found in Text Mining only
Varicosity	Vulval varices	BEFREE	30019821		★☆☆☆☆ Found in Text Mining only
Vascular Diseases	Vascular disease	Pubtator	15171817	Associate	★☆☆☆☆ Found in Text Mining only
Vascular Diseases	Vascular Diseases	LHGDN	18818407		★☆☆☆☆ Found in Text Mining only
Vascular Diseases	Vascular Diseases	BEFREE	29194769		★☆☆☆☆ Found in Text Mining only
Vascular System Injuries	Vascular system injury	Pubtator	15171817	Associate	★☆☆☆☆ Found in Text Mining only
Vasculitis	Vasculitis	BEFREE	10607485, 11528520, 15675141, 21269583		★☆☆☆☆ Found in Text Mining only
Ventricular arrhythmia	Ventricular arrhythmia	BEFREE	29212547		★☆☆☆☆ Found in Text Mining only