AIF1 (allograft inflammatory factor 1)

Gene

• Entrez ID: 199
• Gene name: Allograft inflammatory factor 1
• Gene symbol: AIF1
• Synonyms (NCBI Gene): AIF-1, IBA1, IRT-1, IRT1
• Chromosome: 6
• Chromosome location: 6p21.33
• Summary: This gene encodes a protein that binds actin and calcium. This gene is induced by cytokines and interferon and may promote macrophage activation and growth of vascular smooth muscle cells and T-lymphocytes. Polymorphisms in this gene may be associated wit

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT774211	hsa-miR-188-5p	CLIP-seq
MIRT774212	hsa-miR-204	CLIP-seq
MIRT774213	hsa-miR-211	CLIP-seq
MIRT774214	hsa-miR-4446-5p	CLIP-seq
MIRT774215	hsa-miR-4755-5p	CLIP-seq
MIRT774216	hsa-miR-623	CLIP-seq
MIRT774217	hsa-miR-1275	CLIP-seq
MIRT774218	hsa-miR-1294	CLIP-seq
MIRT774219	hsa-miR-3150b-3p	CLIP-seq
MIRT774220	hsa-miR-3154	CLIP-seq
MIRT774221	hsa-miR-3179	CLIP-seq
MIRT774222	hsa-miR-4270	CLIP-seq
MIRT774223	hsa-miR-4316	CLIP-seq
MIRT774224	hsa-miR-4441	CLIP-seq
MIRT774225	hsa-miR-4450	CLIP-seq
MIRT774226	hsa-miR-4525	CLIP-seq
MIRT774227	hsa-miR-4665-5p	CLIP-seq
MIRT774228	hsa-miR-4723-5p	CLIP-seq
MIRT774229	hsa-miR-4764-5p	CLIP-seq
MIRT774230	hsa-miR-4772-5p	CLIP-seq
MIRT774231	hsa-miR-4784	CLIP-seq
MIRT774232	hsa-miR-483-3p	CLIP-seq
MIRT774233	hsa-miR-570	CLIP-seq
MIRT774234	hsa-miR-625	CLIP-seq
MIRT774235	hsa-miR-765	CLIP-seq
MIRT1928483	hsa-miR-149	CLIP-seq
MIRT1928484	hsa-miR-3064-5p	CLIP-seq
MIRT1928485	hsa-miR-4522	CLIP-seq
MIRT1928486	hsa-miR-4794	CLIP-seq
MIRT1928487	hsa-miR-653	CLIP-seq
MIRT2169253	hsa-miR-1273f	CLIP-seq
MIRT2169254	hsa-miR-143	CLIP-seq
MIRT2169255	hsa-miR-4708-5p	CLIP-seq
MIRT2169256	hsa-miR-4747-5p	CLIP-seq
MIRT2169257	hsa-miR-4770	CLIP-seq
MIRT2169258	hsa-miR-563	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001726	Component	Ruffle	IEA
GO:0001726	Component	Ruffle	ISS
GO:0001774	Process	Microglial cell activation	NAS	17011575
GO:0001891	Component	Phagocytic cup	IEA
GO:0001891	Component	Phagocytic cup	ISS
GO:0003779	Function	Actin binding	IEA
GO:0005509	Function	Calcium ion binding	IBA
GO:0005509	Function	Calcium ion binding	IEA
GO:0005509	Function	Calcium ion binding	ISS	17011575
GO:0005515	Function	Protein binding	IPI	32814053
GO:0005634	Component	Nucleus	IDA	22116621
GO:0005634	Component	Nucleus	IEA
GO:0005634	Component	Nucleus	ISS
GO:0005737	Component	Cytoplasm	IDA	12887599, 28601280
GO:0005737	Component	Cytoplasm	IEA
GO:0005737	Component	Cytoplasm	ISS
GO:0005829	Component	Cytosol	IDA	22116621
GO:0005856	Component	Cytoskeleton	IEA
GO:0005884	Component	Actin filament	IBA
GO:0005884	Component	Actin filament	IDA	18699778
GO:0005884	Component	Actin filament	IEA
GO:0005884	Component	Actin filament	ISS
GO:0005886	Component	Plasma membrane	IEA
GO:0006911	Process	Phagocytosis, engulfment	IEA
GO:0006911	Process	Phagocytosis, engulfment	ISS
GO:0006954	Process	Inflammatory response	ISS
GO:0006954	Process	Inflammatory response	NAS	7769138
GO:0008284	Process	Positive regulation of cell population proliferation	IDA	19745784
GO:0010468	Process	Regulation of gene expression	HDA	24796669
GO:0016020	Component	Membrane	IEA
GO:0016601	Process	Rac protein signal transduction	IEA
GO:0016601	Process	Rac protein signal transduction	ISS
GO:0030027	Component	Lamellipodium	IEA
GO:0030027	Component	Lamellipodium	ISS
GO:0030041	Process	Actin filament polymerization	IDA	16049345
GO:0030046	Process	Parallel actin filament bundle assembly	IEA
GO:0030046	Process	Parallel actin filament bundle assembly	ISS
GO:0030335	Process	Positive regulation of cell migration	IDA	19745784
GO:0032587	Component	Ruffle membrane	IBA
GO:0032587	Component	Ruffle membrane	IDA	18699778
GO:0032587	Component	Ruffle membrane	IEA
GO:0032722	Process	Positive regulation of chemokine production	IDA	24796669
GO:0032755	Process	Positive regulation of interleukin-6 production	IDA	24796669
GO:0034599	Process	Cellular response to oxidative stress	IDA	12887599
GO:0042102	Process	Positive regulation of T cell proliferation	IDA	16049345
GO:0042995	Component	Cell projection	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0048471	Component	Perinuclear region of cytoplasm	IDA	9614071
GO:0048661	Process	Positive regulation of smooth muscle cell proliferation	IDA	15117732, 22116621
GO:0048662	Process	Negative regulation of smooth muscle cell proliferation	IDA	9614071, 22116621
GO:0050921	Process	Positive regulation of chemotaxis	IDA	24796669
GO:0051015	Function	Actin filament binding	IBA
GO:0051015	Function	Actin filament binding	IDA	16049345, 18699778
GO:0051015	Function	Actin filament binding	IEA
GO:0051017	Process	Actin filament bundle assembly	IBA
GO:0051017	Process	Actin filament bundle assembly	IDA	18699778
GO:0051017	Process	Actin filament bundle assembly	IEA
GO:0051764	Process	Actin crosslink formation	IEA
GO:0051764	Process	Actin crosslink formation	ISS
GO:0071346	Process	Cellular response to type II interferon	IEP	9614071
GO:0071346	Process	Cellular response to type II interferon	ISS
GO:0071672	Process	Negative regulation of smooth muscle cell chemotaxis	IDA	22116621
GO:0071673	Process	Positive regulation of smooth muscle cell chemotaxis	IDA	22116621
GO:0071677	Process	Positive regulation of mononuclear cell migration	IDA	24796669
GO:0090026	Process	Positive regulation of monocyte chemotaxis	IDA	15117732
GO:0090271	Process	Positive regulation of fibroblast growth factor production	IDA	19745784
GO:0097178	Process	Ruffle assembly	IBA
GO:0097178	Process	Ruffle assembly	IEA
GO:0097178	Process	Ruffle assembly	ISS
GO:0097178	Process	Ruffle assembly	NAS	17011575
GO:0097386	Component	Glial cell projection	IEA
GO:1900087	Process	Positive regulation of G1/S transition of mitotic cell cycle	IDA	11557666, 15117732, 19745784
GO:2000406	Process	Positive regulation of T cell migration	IDA	16049345

Other IDs

• MIM: 601833
• HGNC: 352
• e!Ensembl: ENSG00000204472

Protein

• UniProt ID: P55008
• Protein name: Allograft inflammatory factor 1 (AIF-1) (Ionized calcium-binding adapter molecule 1) (Protein G1)
• Protein function: Actin-binding protein that enhances membrane ruffling and RAC activation. Enhances the actin-bundling activity of LCP1. Binds calcium. Plays a role in RAC signaling and in phagocytosis. May play a role in macrophage activation and function. Prom
• PDB: 2D58, 2G2B
• Tissue specificity: TISSUE SPECIFICITY: Detected in T-lymphocytes and peripheral blood mononuclear cells. {ECO:0000269|PubMed:16049345}.
• Sequence:

  MSQTRDLQGGKAFGLLKAQQEERLDEINKQFLDDPKYSSDEDLPSKLEGFKEKYMEFDLN
  GNGDIDIMSLKRMLEKLGVPKTHLELKKLIGEVSSGSGETFSYPDFLRMMLGKRSAILKM
  ILMYEEKAREKEKPTGPPAKKAISELP

• Sequence length: 147

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
BREAST CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLORECTAL CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORONARY ARTERY DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETES MELLITUS, INSULIN-DEPENDENT	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ESSENTIAL HYPERTENSION	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ESTROGEN-RECEPTOR NEGATIVE BREAST CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GALLSTONES	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERALGESIA	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTENSION	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTENSIVE DISEASE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INFLAMMATORY BOWEL DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LEWY BODY DISEASE	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LIVER CIRRHOSIS, EXPERIMENTAL	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUNG ADENOCARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUNG CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYOCARDIAL INFARCTION	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NON-HODGKINS LYMPHOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OVARIAN CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OVARIAN ENDOMETRIOID CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OVARIAN SEROUS CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PARKINSON DISEASE	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATE CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PSORIASIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RHEUMATOID ARTHRITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SQUAMOUS CELL LUNG CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
STEVENS-JOHNSON SYNDROME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SYSTEMIC LUPUS ERYTHEMATOSUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TOXIC EPIDERMAL NECROLYSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TRIGEMINAL NEURALGIA	—	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
Adenomatous Polyposis Coli	Multiple polyposis syndrome	BEFREE	31631484		★☆☆☆☆ Found in Text Mining only
Age related macular degeneration	Age-related macular degeneration	BEFREE	25186463, 31637594		★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	23943781, 25362031, 27256292, 28365005, 31454549, 31703599, 33597025, 35247551	Associate	★☆☆☆☆ Found in Text Mining only
Amyloidosis	Amyloidosis	BEFREE	31291963		★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis	Amyotrophic Lateral Sclerosis	BEFREE	18312546, 21453731, 31395804, 31562223		★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis	Amyotrophic lateral sclerosis	Pubtator	22720079	Associate	★☆☆☆☆ Found in Text Mining only
Amyotrophic lateral sclerosis 1	Amyotrophic lateral sclerosis	Pubtator	30215603	Associate	★☆☆☆☆ Found in Text Mining only
Anemia	Anemia	BEFREE	22571903		★☆☆☆☆ Found in Text Mining only
Anhedonia	Anhedonia	BEFREE	30326340		★☆☆☆☆ Found in Text Mining only
Arteriosclerosis	Arteriosclerosis	BEFREE	15784173, 21862018, 22116621, 30637787, 31439353		★☆☆☆☆ Found in Text Mining only
Arteriosclerosis	Arteriosclerosis	LHGDN	15784173		★☆☆☆☆ Found in Text Mining only
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	24018427	Stimulate	★☆☆☆☆ Found in Text Mining only
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	24018427, 32708725	Associate	★☆☆☆☆ Found in Text Mining only
Astrocytoma	Astrocytoma	BEFREE	11078219		★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	BEFREE	15784173, 21862018, 22116621, 31439353		★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	Pubtator	15784173, 34925641	Associate	★☆☆☆☆ Found in Text Mining only
Atrophy of the spinal cord	Atrophy of the spinal cord	BEFREE	29336201		★☆☆☆☆ Found in Text Mining only
AURAL ATRESIA, CONGENITAL	Aural Atresia, Congenital	BEFREE	23313575		★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorder	Autism	Pubtator	27957319	Associate	★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorders	Autism Spectrum Disorder	BEFREE	31417364		★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune Diseases	BEFREE	17453710, 9728770		★☆☆☆☆ Found in Text Mining only
Behcet Syndrome	Behcet Syndrome	BEFREE	30252881		★☆☆☆☆ Found in Text Mining only
Behcet Syndrome	Behcet disease	Pubtator	30252881	Associate	★☆☆☆☆ Found in Text Mining only
Bipolar Disorder	Bipolar disorder	Pubtator	32062729, 38303428	Associate	★☆☆☆☆ Found in Text Mining only
Brain Ischemia	Cerebral Ischemia	BEFREE	28732772, 31697040		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	21509525, 30386176, 31389223		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Breast Neoplasms	Breast neoplasm	Pubtator	23221708	Associate	★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	36520870	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	37914817	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma, Neuroendocrine	Carcinoma	BEFREE	29885660		★☆☆☆☆ Found in Text Mining only
Cerebral Infarction	Ischemic stroke	Pubtator	11078214	Associate	★☆☆☆☆ Found in Text Mining only
Cerebral Infarction	Cerebral Infarction	BEFREE	26250788, 28855861		★☆☆☆☆ Found in Text Mining only
Cerebrovascular accident	Stroke	BEFREE	27514013		★☆☆☆☆ Found in Text Mining only
cervical cancer	Cervical Cancer	BEFREE	24337893		★☆☆☆☆ Found in Text Mining only
Cervix carcinoma	Cervix carcinoma	BEFREE	24337893		★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognitive disorder	BEFREE	31753024		★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognition disorder	Pubtator	32066474	Associate	★☆☆☆☆ Found in Text Mining only
Cognitive Dysfunction	Cognition disorder	Pubtator	32066474	Stimulate	★☆☆☆☆ Found in Text Mining only
Cone-Rod Dystrophy 2	Cone-rod dystrophy	BEFREE	30529367		★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	Pubtator	16049345	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Creutzfeldt-Jakob Disease, Sporadic	Creutzfeldt-Jakob disease	BEFREE	12887599		★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn Disease	BEFREE	22936669		★☆☆☆☆ Found in Text Mining only
Cystic Fibrosis	Cystic Fibrosis	BEFREE	17594398, 19540513		★☆☆☆☆ Found in Text Mining only
Cystic Fibrosis	Cystic fibrosis	Pubtator	33111836, 33407736	Associate	★☆☆☆☆ Found in Text Mining only
Cystitis	Cystitis	BEFREE	30989724		★☆☆☆☆ Found in Text Mining only
Degenerative polyarthritis	Arthritis	BEFREE	26585362		★☆☆☆☆ Found in Text Mining only
Dementia	Dementia	Pubtator	27256292, 37087107	Associate	★☆☆☆☆ Found in Text Mining only
Dermatomyositis	Dermatomyositis	Pubtator	39447013	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	30931101		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	30931101		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	BEFREE	12559634, 18987644, 21897012, 28980000		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	28980000		★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathies	Diabetic neuropathy	Pubtator	37916327	Inhibit	★☆☆☆☆ Found in Text Mining only
Diabetic Neuropathies	Diabetic neuropathy	Pubtator	37527931	Inhibit	★☆☆☆☆ Found in Text Mining only
Diabetic Retinopathy	Diabetic Retinopathy	BEFREE	29434227, 29571734, 31637594		★☆☆☆☆ Found in Text Mining only
Diabetic Retinopathy	Diabetic retinopathy	Pubtator	32993645	Associate	★☆☆☆☆ Found in Text Mining only
Diabetic Retinopathy	Diabetic retinopathy	Pubtator	36430950	Stimulate	★☆☆☆☆ Found in Text Mining only
Encephalitis	Encephalitis	Pubtator	17533487	Associate	★☆☆☆☆ Found in Text Mining only
Encephalitis	Encephalitis	Pubtator	25438677	Stimulate	★☆☆☆☆ Found in Text Mining only
Endometriosis	Endometriosis	BEFREE	15507512, 31830499		★☆☆☆☆ Found in Text Mining only
Epilepsy Temporal Lobe	Temporal lobe epilepsy	Pubtator	39377933	Associate	★☆☆☆☆ Found in Text Mining only
Epilepsy, Temporal Lobe	Epilepsy	BEFREE	29432809, 31097691		★☆☆☆☆ Found in Text Mining only
Esophageal Squamous Cell Carcinoma	Esophageal squamous cell carcinoma	Pubtator	12901795	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	11078219, 28767130, 28770500		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	34713474	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	11078219, 28767130, 28770500, 29535786		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	23520016		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	27287871, 37014322	Associate	★☆☆☆☆ Found in Text Mining only
gliosarcoma	Gliosarcoma	BEFREE	11078219		★☆☆☆☆ Found in Text Mining only
Graft vs Host Disease	Graft-versus-host disease	Pubtator	17533487	Stimulate	★☆☆☆☆ Found in Text Mining only
Graft vs Host Disease	Graft-versus-host disease	Pubtator	20190732	Associate	★☆☆☆☆ Found in Text Mining only
Hemangioma	Hemangioma	BEFREE	17010532		★☆☆☆☆ Found in Text Mining only
Hereditary Diffuse Leukoencephalopathy with Spheroids	Hereditary Diffuse Leukoencephalopathy With Spheroids	BEFREE	27490250		★☆☆☆☆ Found in Text Mining only
Hyperglycemia	Hyperglycemia	BEFREE	28639050		★☆☆☆☆ Found in Text Mining only
Hyperhomocysteinemia	Hyperhomocysteinemia	BEFREE	31146011		★☆☆☆☆ Found in Text Mining only
Hyperplasia	Hyperplasia	Pubtator	35586138	Associate	★☆☆☆☆ Found in Text Mining only
Hypoglycemia	Hypoglycemia	BEFREE	30996341		★☆☆☆☆ Found in Text Mining only
Immune System Diseases	Immune System Diseases	BEFREE	12887599		★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	BEFREE	30786259, 30999030, 31753024		★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory Bowel Disease	BEFREE	27781498		★☆☆☆☆ Found in Text Mining only
Insomnia Fatal Familial	Insomnia	Pubtator	23816234	Associate	★☆☆☆☆ Found in Text Mining only
Irritable Bowel Syndrome	Irritable Bowel Syndrome	BEFREE	27781498		★☆☆☆☆ Found in Text Mining only
Lewy Body Disease	Lewy Body Disease	CTD_human_DG	19276553		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Linear atrophy	Atrophy	BEFREE	29109020		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	28932635, 30188879		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	37679517	Stimulate	★☆☆☆☆ Found in Text Mining only
Lymphoma, Follicular	Lymphoma	BEFREE	21148756		★☆☆☆☆ Found in Text Mining only
Lymphoma, Non-Hodgkin	Non-Hodgkin lymphoma	BEFREE	21148756		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	21509525, 30386176, 31389223		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	24337893		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	11078219, 21509525, 23948156, 24337893, 30672378, 31221176		★☆☆☆☆ Found in Text Mining only
Malignant tumor of cervix	Cervical Tumor	BEFREE	24337893		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	LHGDN	18341653		★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	37014322	Associate	★☆☆☆☆ Found in Text Mining only
MENTAL RETARDATION, X-LINKED, SNYDER-ROBINSON TYPE	Mental retardation	BEFREE	31135065		★☆☆☆☆ Found in Text Mining only
Mucocutaneous Lymph Node Syndrome	Kawasaki disease	BEFREE	28505365, 28707750		★☆☆☆☆ Found in Text Mining only
Mucocutaneous Lymph Node Syndrome	Kawasaki disease	Pubtator	28505365	Stimulate	★☆☆☆☆ Found in Text Mining only
Mucocutaneous Lymph Node Syndrome	Kawasaki disease	Pubtator	28707750	Associate	★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple sclerosis	Pubtator	24886140	Associate	★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple Sclerosis	BEFREE	26250788		★☆☆☆☆ Found in Text Mining only
Muscular Dystrophy Duchenne	Duchenne muscular dystrophy	Pubtator	34922439	Associate	★☆☆☆☆ Found in Text Mining only
Mycosis Fungoides	Mycosis fungoides	Pubtator	17533487	Stimulate	★☆☆☆☆ Found in Text Mining only
Myositis	Myositis	BEFREE	31002029		★☆☆☆☆ Found in Text Mining only
Nasal Polyps	Nasal polyp	Pubtator	36466903	Associate	★☆☆☆☆ Found in Text Mining only
Necrotizing enterocolitis in fetus OR newborn	Necrotizing Enterocolitis	BEFREE	29885660		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	11078219, 17010532, 21509525, 28677106, 28932635, 29098034, 29523123, 30188879, 30796032, 8077343, 9775395		★☆☆☆☆ Found in Text Mining only
Nephritis	Nephritis	LHGDN	17035944		★☆☆☆☆ Found in Text Mining only
Nervous System Diseases	Nervous system disease	Pubtator	37527931	Associate	★☆☆☆☆ Found in Text Mining only
Neurodegenerative Disorders	Neurodegenerative Disorders	BEFREE	26250788		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	21720444, 30615888		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	21720444	Associate	★☆☆☆☆ Found in Text Mining only
Osteoarthritis of hip	Osteoarthritis Of Hip	BEFREE	31538672		★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	CTD_human_DG	19276553		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Parkinson Disease	Parkinson disease	BEFREE	28409032, 28769786, 30740124, 31220543		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Parkinson Disease	Parkinson disease	Pubtator	34983390	Stimulate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Peritoneal Fibrosis	Peritoneal Fibrosis	BEFREE	30761680		★☆☆☆☆ Found in Text Mining only
Psoriasis	Psoriasis	Pubtator	17533487	Stimulate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pulmonary Arterial Hypertension	Pulmonary arterial hypertension	Pubtator	20808962	Stimulate	★☆☆☆☆ Found in Text Mining only
Pulmonary Fibrosis	Pulmonary Fibrosis	BEFREE	29225172		★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	GWASDB_DG	17804836, 19503088		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	18721278, 18835879, 22106834, 24018427, 26585362, 29225172		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Rheumatoid Arthritis	Rheumatoid arthritis	LHGDN	18721278		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Russell-Silver syndrome	Russell-Silver Syndrome	BEFREE	31135065		★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	Pubtator	27957319	Inhibit	★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	Pubtator	32062729	Associate	★☆☆☆☆ Found in Text Mining only
Scleroderma Systemic	Systemic sclerosis	Pubtator	20190732	Associate	★☆☆☆☆ Found in Text Mining only
Secondary Trigeminal Neuralgia	Trigeminal neuralgia	CTD_human_DG	27093858		★☆☆☆☆ Found in Text Mining only
Senile Plaques	Senile Plaques	BEFREE	27098516, 29490706		★☆☆☆☆ Found in Text Mining only
Sensory Disorders	Sensory Disorders	BEFREE	31002029		★☆☆☆☆ Found in Text Mining only
Septicemia	Septicemia	BEFREE	30255286		★☆☆☆☆ Found in Text Mining only
Skin Abnormalities	Skin abnormalities	Pubtator	17533487	Stimulate	★☆☆☆☆ Found in Text Mining only
Skin Diseases	Skin disease	Pubtator	17533487	Associate	★☆☆☆☆ Found in Text Mining only
Skin Erosion	Skin Erosion	BEFREE	26585362		★☆☆☆☆ Found in Text Mining only
Skin lesion	Skin Lesion	BEFREE	16868985		★☆☆☆☆ Found in Text Mining only
Spondylitis Ankylosing	Ankylosing spondylitis	Pubtator	40593526	Associate	★☆☆☆☆ Found in Text Mining only
SPONDYLOCARPOTARSAL SYNOSTOSIS SYNDROME	Spondylocarpotarsal Synostosis Syndrome	BEFREE	30149759		★☆☆☆☆ Found in Text Mining only
Status Epilepticus	Status Epilepticus	BEFREE	29326654, 31658159		★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	24337893		★☆☆☆☆ Found in Text Mining only
Subarachnoid Hemorrhage	Subarachnoid hemorrhage	BEFREE	27979493, 31433571		★☆☆☆☆ Found in Text Mining only
Systemic Scleroderma	Scleroderma	BEFREE	16418202, 16868985, 17053503, 17498268, 17522098		★☆☆☆☆ Found in Text Mining only
Systemic Scleroderma	Scleroderma	LHGDN	17498268, 17522098, 17907195		★☆☆☆☆ Found in Text Mining only
Tauopathies	Tauopathies	BEFREE	31354934		★☆☆☆☆ Found in Text Mining only
Trigeminal Neuralgia	Trigeminal neuralgia	CTD_human_DG	27093858		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Trigeminal Neuralgia, Idiopathic	Trigeminal neuralgia	CTD_human_DG	27093858		★☆☆☆☆ Found in Text Mining only
Uremia	Uremia	Pubtator	39799338	Associate	★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	23255846	Associate	★☆☆☆☆ Found in Text Mining only
Uveitis	Uveitis	BEFREE	17453710, 9728770		★☆☆☆☆ Found in Text Mining only
Van der Woude syndrome	Van Der Woude Syndrome	BEFREE	29454265, 30133465		★☆☆☆☆ Found in Text Mining only
Vascular Calcification	Vascular calcification	Pubtator	39799338	Associate	★☆☆☆☆ Found in Text Mining only
Vascular Diseases	Vascular Diseases	BEFREE	16868985, 17053503, 31439353		★☆☆☆☆ Found in Text Mining only