ITGA4 (integrin subunit alpha 4)

Gene

• Entrez ID: 3676
• Gene name: Integrin subunit alpha 4
• Gene symbol: ITGA4
• Synonyms (NCBI Gene): CD49D, IA4
• Chromosome: 2
• Chromosome location: 2q31.3
• Summary: The gene encodes a member of the integrin alpha chain family of proteins. Integrins are heterodimeric integral membrane proteins composed of an alpha chain and a beta chain that function in cell surface adhesion and signaling. The encoded preproprotein is

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT007135	hsa-miR-30c-5p	qRT-PCR	23418453
MIRT1073585	hsa-miR-186	CLIP-seq
MIRT1073586	hsa-miR-3171	CLIP-seq
MIRT1073587	hsa-miR-4659a-3p	CLIP-seq
MIRT1073588	hsa-miR-4659b-3p	CLIP-seq
MIRT1073589	hsa-miR-4716-5p	CLIP-seq
MIRT1073590	hsa-miR-495	CLIP-seq
MIRT1073591	hsa-miR-587	CLIP-seq
MIRT2018180	hsa-miR-450b-5p	CLIP-seq
MIRT2018181	hsa-miR-4711-3p	CLIP-seq
MIRT2018182	hsa-miR-511	CLIP-seq
MIRT2018183	hsa-miR-513a-3p	CLIP-seq
MIRT2018184	hsa-miR-548ae	CLIP-seq
MIRT2018185	hsa-miR-548aj	CLIP-seq
MIRT2018186	hsa-miR-548am	CLIP-seq
MIRT2018187	hsa-miR-548x	CLIP-seq
MIRT2250056	hsa-miR-106a	CLIP-seq
MIRT2250057	hsa-miR-106b	CLIP-seq
MIRT2250058	hsa-miR-130a	CLIP-seq
MIRT2250059	hsa-miR-130b	CLIP-seq
MIRT2250060	hsa-miR-17	CLIP-seq
MIRT2250061	hsa-miR-20a	CLIP-seq
MIRT2250062	hsa-miR-20b	CLIP-seq
MIRT2250063	hsa-miR-301a	CLIP-seq
MIRT2250064	hsa-miR-301b	CLIP-seq
MIRT2250065	hsa-miR-3609	CLIP-seq
MIRT2250066	hsa-miR-3666	CLIP-seq
MIRT2250067	hsa-miR-3670	CLIP-seq
MIRT2250068	hsa-miR-4275	CLIP-seq
MIRT2250069	hsa-miR-4295	CLIP-seq
MIRT2250070	hsa-miR-454	CLIP-seq
MIRT2250071	hsa-miR-4796-3p	CLIP-seq
MIRT2250072	hsa-miR-519a	CLIP-seq
MIRT2250073	hsa-miR-519b-3p	CLIP-seq
MIRT2250074	hsa-miR-519c-3p	CLIP-seq
MIRT2250075	hsa-miR-519d	CLIP-seq
MIRT2250076	hsa-miR-548ah	CLIP-seq
MIRT2250077	hsa-miR-93	CLIP-seq
MIRT2018184	hsa-miR-548ae	CLIP-seq
MIRT2018185	hsa-miR-548aj	CLIP-seq
MIRT2018186	hsa-miR-548am	CLIP-seq
MIRT2018187	hsa-miR-548x	CLIP-seq
MIRT2430127	hsa-miR-3942-3p	CLIP-seq
MIRT2430128	hsa-miR-410	CLIP-seq
MIRT2430129	hsa-miR-4313	CLIP-seq
MIRT2430130	hsa-miR-4747-3p	CLIP-seq
MIRT2430131	hsa-miR-507	CLIP-seq
MIRT2430132	hsa-miR-557	CLIP-seq
MIRT2553557	hsa-miR-1208	CLIP-seq
MIRT2553558	hsa-miR-1278	CLIP-seq
MIRT2553559	hsa-miR-1285	CLIP-seq
MIRT2553560	hsa-miR-1297	CLIP-seq
MIRT2553561	hsa-miR-1827	CLIP-seq
MIRT2553562	hsa-miR-26a	CLIP-seq
MIRT2553563	hsa-miR-26b	CLIP-seq
MIRT2553564	hsa-miR-300	CLIP-seq
MIRT2553565	hsa-miR-30a	CLIP-seq
MIRT2553566	hsa-miR-30b	CLIP-seq
MIRT2553567	hsa-miR-30c	CLIP-seq
MIRT2553568	hsa-miR-30d	CLIP-seq
MIRT2553569	hsa-miR-30e	CLIP-seq
MIRT2553570	hsa-miR-3127-3p	CLIP-seq
MIRT2553571	hsa-miR-3160-5p	CLIP-seq
MIRT2553572	hsa-miR-3161	CLIP-seq
MIRT2553573	hsa-miR-3187-5p	CLIP-seq
MIRT2553574	hsa-miR-3200-5p	CLIP-seq
MIRT2553575	hsa-miR-3545-3p	CLIP-seq
MIRT2553576	hsa-miR-3664-5p	CLIP-seq
MIRT2553577	hsa-miR-380	CLIP-seq
MIRT2553578	hsa-miR-381	CLIP-seq
MIRT2553579	hsa-miR-382	CLIP-seq
MIRT2553580	hsa-miR-3973	CLIP-seq
MIRT2553581	hsa-miR-4251	CLIP-seq
MIRT2553582	hsa-miR-4329	CLIP-seq
MIRT2553583	hsa-miR-4420	CLIP-seq
MIRT2553584	hsa-miR-4432	CLIP-seq
MIRT2553585	hsa-miR-4457	CLIP-seq
MIRT2553586	hsa-miR-4465	CLIP-seq
MIRT2553587	hsa-miR-4495	CLIP-seq
MIRT2553588	hsa-miR-4520a-3p	CLIP-seq
MIRT2553589	hsa-miR-4520b-3p	CLIP-seq
MIRT2018181	hsa-miR-4711-3p	CLIP-seq
MIRT2553590	hsa-miR-4714-5p	CLIP-seq
MIRT2553591	hsa-miR-4760-3p	CLIP-seq
MIRT1073590	hsa-miR-495	CLIP-seq
MIRT2553592	hsa-miR-498	CLIP-seq
MIRT2553593	hsa-miR-499-5p	CLIP-seq
MIRT2018182	hsa-miR-511	CLIP-seq
MIRT2553594	hsa-miR-513b	CLIP-seq
MIRT2553595	hsa-miR-548a-5p	CLIP-seq
MIRT2553596	hsa-miR-548ab	CLIP-seq
MIRT2553597	hsa-miR-548ak	CLIP-seq
MIRT2553598	hsa-miR-548b-5p	CLIP-seq
MIRT2553599	hsa-miR-548c-5p	CLIP-seq
MIRT2553600	hsa-miR-548d-5p	CLIP-seq
MIRT2553601	hsa-miR-548h	CLIP-seq
MIRT2553602	hsa-miR-548i	CLIP-seq
MIRT2553603	hsa-miR-548j	CLIP-seq
MIRT2553604	hsa-miR-548w	CLIP-seq
MIRT2553605	hsa-miR-548y	CLIP-seq
MIRT2553606	hsa-miR-559	CLIP-seq
MIRT2553607	hsa-miR-562	CLIP-seq
MIRT2553608	hsa-miR-578	CLIP-seq
MIRT2553609	hsa-miR-579	CLIP-seq
MIRT2553610	hsa-miR-612	CLIP-seq
MIRT2553611	hsa-miR-643	CLIP-seq
MIRT2553612	hsa-miR-664	CLIP-seq
MIRT2553613	hsa-miR-802	CLIP-seq
MIRT2553558	hsa-miR-1278	CLIP-seq
MIRT2553559	hsa-miR-1285	CLIP-seq
MIRT2553560	hsa-miR-1297	CLIP-seq
MIRT2553561	hsa-miR-1827	CLIP-seq
MIRT2553562	hsa-miR-26a	CLIP-seq
MIRT2553563	hsa-miR-26b	CLIP-seq
MIRT2553564	hsa-miR-300	CLIP-seq
MIRT2553570	hsa-miR-3127-3p	CLIP-seq
MIRT2553572	hsa-miR-3161	CLIP-seq
MIRT2553573	hsa-miR-3187-5p	CLIP-seq
MIRT2553574	hsa-miR-3200-5p	CLIP-seq
MIRT2553575	hsa-miR-3545-3p	CLIP-seq
MIRT2553576	hsa-miR-3664-5p	CLIP-seq
MIRT2553577	hsa-miR-380	CLIP-seq
MIRT2553578	hsa-miR-381	CLIP-seq
MIRT2553579	hsa-miR-382	CLIP-seq
MIRT2553580	hsa-miR-3973	CLIP-seq
MIRT2553581	hsa-miR-4251	CLIP-seq
MIRT2553582	hsa-miR-4329	CLIP-seq
MIRT2553585	hsa-miR-4457	CLIP-seq
MIRT2553586	hsa-miR-4465	CLIP-seq
MIRT2553587	hsa-miR-4495	CLIP-seq
MIRT2553588	hsa-miR-4520a-3p	CLIP-seq
MIRT2553589	hsa-miR-4520b-3p	CLIP-seq
MIRT2553590	hsa-miR-4714-5p	CLIP-seq
MIRT2553591	hsa-miR-4760-3p	CLIP-seq
MIRT1073590	hsa-miR-495	CLIP-seq
MIRT2553592	hsa-miR-498	CLIP-seq
MIRT2553594	hsa-miR-513b	CLIP-seq
MIRT2553595	hsa-miR-548a-5p	CLIP-seq
MIRT2553596	hsa-miR-548ab	CLIP-seq
MIRT2553597	hsa-miR-548ak	CLIP-seq
MIRT2553598	hsa-miR-548b-5p	CLIP-seq
MIRT2553599	hsa-miR-548c-5p	CLIP-seq
MIRT2553600	hsa-miR-548d-5p	CLIP-seq
MIRT2553601	hsa-miR-548h	CLIP-seq
MIRT2553602	hsa-miR-548i	CLIP-seq
MIRT2553603	hsa-miR-548j	CLIP-seq
MIRT2553604	hsa-miR-548w	CLIP-seq
MIRT2553605	hsa-miR-548y	CLIP-seq
MIRT2553606	hsa-miR-559	CLIP-seq
MIRT2553607	hsa-miR-562	CLIP-seq
MIRT2553608	hsa-miR-578	CLIP-seq
MIRT2553609	hsa-miR-579	CLIP-seq
MIRT2553610	hsa-miR-612	CLIP-seq
MIRT2553611	hsa-miR-643	CLIP-seq
MIRT2553612	hsa-miR-664	CLIP-seq
MIRT2553613	hsa-miR-802	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001968	Function	Fibronectin binding	IEA
GO:0002387	Process	Immune response in gut-associated lymphoid tissue	NAS	7687523
GO:0002687	Process	Positive regulation of leukocyte migration	IEA
GO:0003366	Process	Cell-matrix adhesion involved in ameboidal cell migration	IMP	23986478
GO:0003823	Function	Antigen binding	IEA
GO:0005178	Function	Integrin binding	TAS	8020569
GO:0005515	Function	Protein binding	IPI	1542691, 9079671, 10604475, 14681217, 15466886, 20159608, 21173240, 22232704, 26779610, 35802072, 37184585
GO:0005886	Component	Plasma membrane	IDA	12869515
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS
GO:0005925	Component	Focal adhesion	HDA	21423176
GO:0007155	Process	Cell adhesion	IEA
GO:0007159	Process	Leukocyte cell-cell adhesion	IDA	1715889
GO:0007159	Process	Leukocyte cell-cell adhesion	IEA
GO:0007159	Process	Leukocyte cell-cell adhesion	NAS	30819933
GO:0007160	Process	Cell-matrix adhesion	IBA
GO:0007160	Process	Cell-matrix adhesion	IDA	22232704
GO:0007160	Process	Cell-matrix adhesion	IEA
GO:0007160	Process	Cell-matrix adhesion	IMP	18308860, 23986478
GO:0007160	Process	Cell-matrix adhesion	NAS	30819933
GO:0007229	Process	Integrin-mediated signaling pathway	IBA
GO:0007229	Process	Integrin-mediated signaling pathway	IEA
GO:0007229	Process	Integrin-mediated signaling pathway	NAS	22232704, 30819933
GO:0008305	Component	Integrin complex	IEA
GO:0009888	Process	Tissue development	IEA
GO:0009986	Component	Cell surface	IBA
GO:0009986	Component	Cell surface	IDA	1715889, 18308860, 20563599, 23986478
GO:0009986	Component	Cell surface	IEA
GO:0015026	Function	Coreceptor activity	TAS	23125415
GO:0016020	Component	Membrane	HDA	19946888
GO:0016020	Component	Membrane	IEA
GO:0019960	Function	C-X3-C chemokine binding	IDA	23125415
GO:0030183	Process	B cell differentiation	IC	1715889
GO:0030426	Component	Growth cone	IEA
GO:0033631	Process	Cell-cell adhesion mediated by integrin	IGI	11078691
GO:0034113	Process	Heterotypic cell-cell adhesion	IGI	11078691
GO:0034113	Process	Heterotypic cell-cell adhesion	IMP	18308860
GO:0034446	Process	Substrate adhesion-dependent cell spreading	IMP	23986478
GO:0034668	Component	Integrin alpha4-beta1 complex	IBA
GO:0034668	Component	Integrin alpha4-beta1 complex	IPI	1542691
GO:0034668	Component	Integrin alpha4-beta1 complex	TAS	8020569
GO:0034669	Component	Integrin alpha4-beta7 complex	IBA
GO:0034669	Component	Integrin alpha4-beta7 complex	IDA	18308860, 23986478
GO:0034669	Component	Integrin alpha4-beta7 complex	IPI	22232704
GO:0035987	Process	Endodermal cell differentiation	IEP	23154389
GO:0038023	Function	Signaling receptor activity	IBA
GO:0043025	Component	Neuronal cell body	IEA
GO:0043113	Process	Receptor clustering	IMP	23986478
GO:0045906	Process	Negative regulation of vasoconstriction	IEA
GO:0045906	Process	Negative regulation of vasoconstriction	IMP	35802072
GO:0046872	Function	Metal ion binding	IEA
GO:0048598	Process	Embryonic morphogenesis	IEA
GO:0050839	Function	Cell adhesion molecule binding	IEA
GO:0050839	Function	Cell adhesion molecule binding	IMP	23986478
GO:0050839	Function	Cell adhesion molecule binding	IPI	12869515
GO:0050900	Process	Leukocyte migration	IEA
GO:0050901	Process	Leukocyte tethering or rolling	IMP	18308860
GO:0050904	Process	Diapedesis	IEA
GO:0060385	Process	Axonogenesis involved in innervation	IEA
GO:0070062	Component	Extracellular exosome	HDA	12519789, 20458337
GO:0071345	Process	Cellular response to cytokine stimulus	IEA
GO:0090074	Process	Negative regulation of protein homodimerization activity	IDA	12869515
GO:0098609	Process	Cell-cell adhesion	IBA
GO:0098657	Process	Import into cell	IEA
GO:1903039	Process	Positive regulation of leukocyte cell-cell adhesion	IEA
GO:1903238	Process	Positive regulation of leukocyte tethering or rolling	IEA
GO:1904646	Process	Cellular response to amyloid-beta	IGI	11078691
GO:1905564	Process	Positive regulation of vascular endothelial cell proliferation	IMP	27464494
GO:1990138	Process	Neuron projection extension	IEA
GO:1990405	Function	Protein antigen binding	IEA
GO:1990771	Process	Clathrin-dependent extracellular exosome endocytosis	IEA
GO:2000353	Process	Positive regulation of endothelial cell apoptotic process	IMP	27464494
GO:2000406	Process	Positive regulation of T cell migration	IEA

Other IDs

• MIM: 192975
• HGNC: 6140
• e!Ensembl: ENSG00000115232

Protein

• UniProt ID: P13612
• Protein name: Integrin alpha-4 (CD49 antigen-like family member D) (Integrin alpha-IV) (VLA-4 subunit alpha) (CD antigen CD49d)
• Protein function: Integrins alpha-4/beta-1 (VLA-4) and alpha-4/beta-7 are receptors for fibronectin. They recognize one or more domains within the alternatively spliced CS-1 and CS-5 regions of fibronectin. They are also receptors for VCAM1. Integrin alpha-4/beta
• PDB: 3V4P, 3V4V, 4HKC, 5C7Z, 5FPI
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF01839	FG-GAP	306 → 342	FG-GAP repeat	Repeat
  PF01839	FG-GAP	369 → 403	FG-GAP repeat	Repeat
  PF08441	Integrin_alpha2	463 → 905	Integrin alpha	Family

• Tissue specificity: TISSUE SPECIFICITY: Expressed in vascular smooth muscle cells (at protein level). {ECO:0000269|PubMed:35802072}.
• Sequence:

  MAWEARREPGPRRAAVRETVMLLLCLGVPTGRPYNVDTESALLYQGPHNTLFGYSVVLHS
  HGANRWLLVGAPTANWLANASVINPGAIYRCRIGKNPGQTCEQLQLGSPNGEPCGKTCLE
  ERDNQWLGVTLSRQPGENGSIVTCGHRWKNIFYIKNENKLPTGGCYGVPPDLRTELSKRI
  APCYQDYVKKFGENFASCQAGISSFYTKDLIVMGAPGSSYWTGSLFVYNITTNKYKAFLD
  KQNQVKFGSYLGYSVGAGHFRSQHTTEVVGGAPQHEQIGKAYIFSIDEKELNILHEMKGK
  KLGSYFGASVCAVDLNADGFSDLLVGAPMQSTIREEGRVFVYINSGSGAVMNAMETNLVG
  SDKYAARFGESIVNLGDIDNDGFEDVAIGAPQEDDLQGAIYIYNGRADGISSTFSQRIEG
  LQISKSLSMFGQSISGQIDADNNGYVDVAVGAFRSDSAVLLRTRPVVIVDASLSHPESVN
  RTKFDCVENGWPSVCIDLTLCFSYKGKEVPGYIVLFYNMSLDVNRKAESPPRFYFSSNGT
  SDVITGSIQVSSREANCRTHQAFMRKDVRDILTPIQIEAAYHLGPHVISKRSTEEFPPLQ
  PILQQKKEKDIMKKTINFARFCAHENCSADLQVSAKIGFLKPHENKTYLAVGSMKTLMLN
  VSLFNAGDDAYETTLHVKLPVGLYFIKILELEEKQINCEVTDNSGVVQLDCSIGYIYVDH
  LSRIDISFLLDVSSLSRAEEDLSITVHATCENEEEMDNLKHSRVTVAIPLKYEVKLTVHG
  FVNPTSFVYGSNDENEPETCMVEKMNLTFHVINTGNSMAPNVSVEIMVPNSFSPQTDKLF
  NILDVQTTTGECHFENYQRVCALEQQKSAMQTLKGIVRFLSKTDKRLLYCIKADPHCLNF
  LCNFGKMESGKEASVHIQLEGRPSILEMDETSALKFEIRATGFPEPNPRVIELNKDENVA
  HVLLEGLHHQRPKRYFTIVIISSSLLLGLIVLLLISYVMWKAGFFKRQYKSILQEENRRD
  SWSYINSKSNDD

• Sequence length: 1032

Pathways

KEGG:

PI3K-Akt signaling pathway
Focal adhesion
ECM-receptor interaction
Cell adhesion molecules
Hematopoietic cell lineage
Leukocyte transendothelial migration
Intestinal immune network for IgA production
Regulation of actin cytoskeleton
Cytoskeleton in muscle cells
Yersinia infection
Leishmaniasis
Human papillomavirus infection
Hypertrophic cardiomyopathy
Arrhythmogenic right ventricular cardiomyopathy
Dilated cardiomyopathy

Reactome:

Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell
Cell surface interactions at the vascular wall
Integrin cell surface interactions
RUNX3 Regulates Immune Response and Cell Migration

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)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Acute myeloid leukemia	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDERS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISTIC DISORDER	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONE-ROD DYSTROPHIES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CROHN'S DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial pancreatic carcinoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INFLAMMATORY BOWEL DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INFLAMMATORY BOWEL DISEASES	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ITGA4-related disorder	Conflicting classifications of pathogenicity; Likely benign; Uncertain significance; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LEUKEMIA, LYMPHOCYTIC, CHRONIC, B-CELL	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PERIODONTAL DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PERIODONTITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RETINITIS PIGMENTOSA	—	Disgenet, GWAS catalog Disgenet, GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RETINITIS PIGMENTOSA 26	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ULCERATIVE COLITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Acoustic Neuroma	Acoustic Neuroma	BEFREE	23354516		★☆☆☆☆ Found in Text Mining only
Acute leukemia	Leukemia	BEFREE	29117236		★☆☆☆☆ Found in Text Mining only
Acute lymphocytic leukemia	Lymphocytic Leukemia	BEFREE	30213075		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma	Adenocarcinoma	BEFREE	19541867		★☆☆☆☆ Found in Text Mining only
Adenoma	Adenoma	BEFREE	25759530		★☆☆☆☆ Found in Text Mining only
Adenoma of large intestine	Colorectal adenoma	BEFREE	25759530		★☆☆☆☆ Found in Text Mining only
Adult Acute Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	30213075		★☆☆☆☆ Found in Text Mining only
Agammaglobulinemia	Agammaglobulinemia	Pubtator	25931291	Stimulate	★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	29769839	Associate	★☆☆☆☆ Found in Text Mining only
Anemia, Sickle Cell	Anemia	BEFREE	27869039		★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	LHGDN	16001979		★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	Pubtator	23160057, 29956778	Associate	★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	CTD_human_DG	18348195		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autistic Disorder	Autism	BEFREE	18846500, 19259978, 21182210		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autoimmune Diseases	Autoimmune Diseases	BEFREE	27016608, 28913574		★☆☆☆☆ Found in Text Mining only
B-Cell Lymphomas	B-Cell Lymphoma	BEFREE	27907195		★☆☆☆☆ Found in Text Mining only
Benign Prostatic Hyperplasia	Benign Prostatic Hyperplasia	BEFREE	25743258, 28836852		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	22581028, 24756760		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	24756760, 33500458	Associate	★☆☆☆☆ Found in Text Mining only
Cap Myopathy	Cap myopathy	Pubtator	19470770	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	28886030	Associate	★☆☆☆☆ Found in Text Mining only
Celiac Disease	Celiac disease	Pubtator	19648293	Associate	★☆☆☆☆ Found in Text Mining only
Cerebrovascular accident	Stroke	BEFREE	28916665, 31522409		★☆☆☆☆ Found in Text Mining only
cervical cancer	Cervical Cancer	BEFREE	30509219		★☆☆☆☆ Found in Text Mining only
Cervix carcinoma	Cervix carcinoma	BEFREE	30509219		★☆☆☆☆ Found in Text Mining only
Chagas Disease	Chagas disease	Pubtator	11309161	Associate	★☆☆☆☆ Found in Text Mining only
Childhood Acute Lymphoblastic Leukemia	Lymphoblastic Leukemia	BEFREE	30213075		★☆☆☆☆ Found in Text Mining only
Childhood asthma	Asthma	BEFREE	29956778		★☆☆☆☆ Found in Text Mining only
Cholangiocarcinoma	Cholangiocarcinoma	Pubtator	19655168	Inhibit	★☆☆☆☆ Found in Text Mining only
Chronic Lymphocytic Leukemia	Lymphocytic Leukemia	LHGDN	11929789, 14623330, 15731179, 17959854, 18641015		★☆☆☆☆ Found in Text Mining only
Chronic Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	17959854, 18275431, 20839337, 21093051, 21465189, 21617698, 24068493, 24421328, 25218362, 25895128, 26559905, 27109509, 28386906, 28935990, 29301866, 29955944, 30350200		★☆☆☆☆ Found in Text Mining only
Chronic Lymphocytic Leukemia	Lymphocytic Leukemia	CTD_human_DG	21093051		★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	25902909		★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic Neoplasms	BEFREE	19541867		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	19541867, 25759530, 25902909, 27111221, 31720923		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	25759530, 26917449, 27111221, 28982739, 29068474, 32531444, 33892797	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal Neoplasms	BEFREE	31720923		★☆☆☆☆ Found in Text Mining only
Congenital chromosomal disease	Congenital Chromosomal Disease	BEFREE	21048153, 24289109		★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn disease	Pubtator	29027377	Stimulate	★☆☆☆☆ Found in Text Mining only
Degenerative polyarthritis	Arthritis	GWASDB_DG	21871595		★☆☆☆☆ Found in Text Mining only
Demyelinating Diseases	Demyelinating Diseases	LHGDN	17150024		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes mellitus	Pubtator	38241313	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 1	Diabetes mellitus, type 1	Pubtator	25793768	Inhibit	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 1	Diabetes mellitus, type 1	Pubtator	30942443	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	BEFREE	25793768		★☆☆☆☆ 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
Endometrial Carcinoma	Endometrial carcinoma	BEFREE	16116605		★☆☆☆☆ Found in Text Mining only
Eosinophilia	Eosinophilia	Pubtator	37548395	Associate	★☆☆☆☆ Found in Text Mining only
Fleck corneal dystrophy	Fleck Corneal Dystrophy	BEFREE	24833739		★☆☆☆☆ Found in Text Mining only
Gastrointestinal Stromal Tumors	Gastrointestinal stromal tumor	BEFREE	29377440		★☆☆☆☆ Found in Text Mining only
Gastrointestinal Stromal Tumors	Gastrointestinal stromal tumor	Pubtator	29377440	Associate	★☆☆☆☆ Found in Text Mining only
Glaucoma	Glaucoma	BEFREE	31680442		★☆☆☆☆ Found in Text Mining only
Glaucoma	Glaucoma	Pubtator	31680442	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	30375429		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	30375429, 35464424	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	30375429		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	26034878		★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	38172514	Stimulate	★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory Bowel Disease	BEFREE	25902909, 28215575		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Inflammatory Bowel Diseases	Inflammatory Bowel Disease	CTD_human_DG	28067908		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Inflammatory Bowel Diseases	Inflammatory bowel disease	Pubtator	39273699	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intervertebral Disc Degeneration	Intervertebral disc disease	Pubtator	28586059	Associate	★☆☆☆☆ Found in Text Mining only
Latent Autoimmune Diabetes in Adults	Latent autoimmune diabetes in adults	Pubtator	33391182	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia	Leukemia	Pubtator	11399509, 29955944, 7678062	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	11264180, 15183897, 15493582, 19543515, 30484958, 36266324	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	11264180		★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis	Liver cirrhosis	Pubtator	17036394	Associate	★☆☆☆☆ Found in Text Mining only
Liver Failure	Liver failure	LHGDN	17964871		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	37888615, 8080732	Associate	★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus Systemic	Systemic lupus erythematosus	Pubtator	32317002	Associate	★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	24756760, 26917449	Associate	★☆☆☆☆ Found in Text Mining only
Lymphocytosis	Lymphocytosis	BEFREE	29301866		★☆☆☆☆ Found in Text Mining only
Lymphoid leukemia	Lymphoid leukemia	BEFREE	28386906		★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	BEFREE	22279054, 9949180		★☆☆☆☆ Found in Text Mining only
Lymphoproliferative Disorders	Lymphoproliferative Disorder	BEFREE	31157955		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	22581028, 24756760		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	25743258		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of testis	Malignant Neoplasm Of Testis	GWASDB_DG	19483682		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	25902909, 31586190		★☆☆☆☆ Found in Text Mining only
Malignant tumor of cervix	Cervical Tumor	BEFREE	30509219		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	25902909		★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	LHGDN	12218055, 17352405, 18632734		★☆☆☆☆ Found in Text Mining only
Mitral Valve Stenosis	Mitral Valve Stenosis	BEFREE	27919749		★☆☆☆☆ Found in Text Mining only
Monoclonal B-Cell Lymphocytosis	B-Cell Lymphocytosis	BEFREE	20839337, 21617698		★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	Pubtator	10848782, 23178378, 23450831, 28670693, 39493694	Associate	★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	BEFREE	11494147, 18850009, 23178378, 31586190		★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple Sclerosis	LHGDN	15990174, 17150024		★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple Sclerosis	BEFREE	17689671, 20098455, 27016608, 27919749, 28487530, 28778440, 31506448		★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple sclerosis	Pubtator	25814153, 8697624	Stimulate	★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple sclerosis	Pubtator	28487530, 33589541	Associate	★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis Chronic Progressive	Multiple sclerosis	Pubtator	17897326	Associate	★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis, Relapsing-Remitting	Multiple Sclerosis	BEFREE	25239835, 27919749		★☆☆☆☆ Found in Text Mining only
Muscular Dystrophy, Duchenne	Duchenne Muscular Dystrophy	BEFREE	29067667		★☆☆☆☆ Found in Text Mining only
MYELODYSPLASTIC SYNDROME	Myelodysplastic Syndrome	BEFREE	29903708		★☆☆☆☆ Found in Text Mining only
Myelodysplastic Syndromes	Myelodysplastic syndrome	Pubtator	30484958, 31157955	Associate	★☆☆☆☆ Found in Text Mining only
Myeloid Leukemia, Chronic	Myeloid Leukemia	BEFREE	10609784		★☆☆☆☆ Found in Text Mining only
Nasopharyngeal Carcinoma	Nasopharyngeal carcinoma	Pubtator	28716111, 32324312	Associate	★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	22159714, 22761439, 24756760, 25973900, 29377440, 30385729		★☆☆☆☆ Found in Text Mining only
Nervous System Diseases	Nervous system disease	Pubtator	27486658	Associate	★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	25973900		★☆☆☆☆ Found in Text Mining only
Noninfiltrating Intraductal Carcinoma	Ductal carcinoma	BEFREE	24756760		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	38172514	Associate	★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	LHGDN	12054567		★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	20796276, 34689222	Associate	★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	32272917	Associate	★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	Pubtator	33504893	Associate	★☆☆☆☆ Found in Text Mining only
Pituitary Neoplasms	Pituitary neoplasm	Pubtator	24198235	Associate	★☆☆☆☆ Found in Text Mining only
Polycystic Ovary Syndrome	Polycystic ovary syndrome	Pubtator	35551681	Associate	★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	25743258		★☆☆☆☆ Found in Text Mining only
Prostatic Hyperplasia	Prostatic hyperplasia	Pubtator	28836852	Associate	★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	25743258	Associate	★☆☆☆☆ Found in Text Mining only
Recurrent aphthous ulcer	Aphthous Ulcer	BEFREE	29340037		★☆☆☆☆ Found in Text Mining only
Retinitis Pigmentosa 26	Retinitis Pigmentosa	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	10623863, 28913574		★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	LHGDN	17530710		★☆☆☆☆ Found in Text Mining only
Sarcoidosis	Sarcoidosis	Pubtator	35075176	Associate	★☆☆☆☆ Found in Text Mining only
Skin lesion	Skin Lesion	BEFREE	20065994		★☆☆☆☆ Found in Text Mining only
Sleep Apnea Obstructive	Sleep apnea	Pubtator	38172514	Associate	★☆☆☆☆ Found in Text Mining only
Small Lymphocytic Lymphoma	Lymphocytic Leukemia	BEFREE	29115891		★☆☆☆☆ Found in Text Mining only
Speech Disorders	Speech Disorders	BEFREE	20552675		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	LHGDN	18697202		★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	28814981, 32937734, 39748722	Associate	★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	40416795	Associate	★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	15989693, 24647315, 36803573	Associate	★☆☆☆☆ Found in Text Mining only
Waldenstrom Macroglobulinemia	Waldenstrom`s Macroglobulinemia	LHGDN	18448868		★☆☆☆☆ Found in Text Mining only