ERAP2 (endoplasmic reticulum aminopeptidase 2)

Gene

• Entrez ID: 64167
• Gene name: Endoplasmic reticulum aminopeptidase 2
• Gene symbol: ERAP2
• Synonyms (NCBI Gene): L-RAP, LRAP
• Chromosome: 5
• Chromosome location: 5q15
• Summary: This gene encodes a zinc metalloaminopeptidase of the M1 protease family that resides in the endoplasmic reticulum and functions in N-terminal trimming antigenic epitopes for presentation by major histocompatibility complex (MHC) class I molecules. Certai

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT029241	hsa-miR-26b-5p	Microarray	19088304
MIRT052185	hsa-let-7b-5p	CLASH	23622248
MIRT643530	hsa-miR-1306-5p	HITS-CLIP	23824327
MIRT643529	hsa-miR-6890-3p	HITS-CLIP	23824327
MIRT643528	hsa-miR-1247-3p	HITS-CLIP	23824327
MIRT643527	hsa-miR-4532	HITS-CLIP	23824327
MIRT643526	hsa-miR-6741-3p	HITS-CLIP	23824327
MIRT643525	hsa-miR-1304-3p	HITS-CLIP	23824327
MIRT643524	hsa-miR-1307-3p	HITS-CLIP	23824327
MIRT643523	hsa-miR-4638-5p	HITS-CLIP	23824327
MIRT643522	hsa-miR-2276-3p	HITS-CLIP	23824327
MIRT643521	hsa-miR-4284	HITS-CLIP	23824327
MIRT643520	hsa-miR-629-5p	HITS-CLIP	23824327
MIRT643519	hsa-miR-4633-5p	HITS-CLIP	23824327
MIRT643518	hsa-miR-491-3p	HITS-CLIP	23824327
MIRT497139	hsa-miR-5092	PAR-CLIP	22291592
MIRT497138	hsa-miR-140-3p	PAR-CLIP	22291592
MIRT497137	hsa-miR-27b-5p	PAR-CLIP	22291592
MIRT643530	hsa-miR-1306-5p	HITS-CLIP	23824327
MIRT643529	hsa-miR-6890-3p	HITS-CLIP	23824327
MIRT643528	hsa-miR-1247-3p	HITS-CLIP	23824327
MIRT643527	hsa-miR-4532	HITS-CLIP	23824327
MIRT643526	hsa-miR-6741-3p	HITS-CLIP	23824327
MIRT643525	hsa-miR-1304-3p	HITS-CLIP	23824327
MIRT643524	hsa-miR-1307-3p	HITS-CLIP	23824327
MIRT643523	hsa-miR-4638-5p	HITS-CLIP	23824327
MIRT643522	hsa-miR-2276-3p	HITS-CLIP	23824327
MIRT643521	hsa-miR-4284	HITS-CLIP	23824327
MIRT643520	hsa-miR-629-5p	HITS-CLIP	23824327
MIRT643519	hsa-miR-4633-5p	HITS-CLIP	23824327
MIRT643518	hsa-miR-491-3p	HITS-CLIP	23824327
MIRT497139	hsa-miR-5092	PAR-CLIP	22291592
MIRT497138	hsa-miR-140-3p	PAR-CLIP	22291592
MIRT497137	hsa-miR-27b-5p	PAR-CLIP	22291592
MIRT967754	hsa-miR-1294	CLIP-seq
MIRT967755	hsa-miR-3616-3p	CLIP-seq
MIRT967756	hsa-miR-4316	CLIP-seq
MIRT967757	hsa-miR-4436b-3p	CLIP-seq
MIRT967758	hsa-miR-4677-3p	CLIP-seq
MIRT967759	hsa-miR-4679	CLIP-seq
MIRT967760	hsa-miR-4721	CLIP-seq
MIRT967761	hsa-miR-664	CLIP-seq
MIRT967762	hsa-miR-1	CLIP-seq
MIRT967763	hsa-miR-1193	CLIP-seq
MIRT967764	hsa-miR-1229	CLIP-seq
MIRT967765	hsa-miR-1249	CLIP-seq
MIRT967766	hsa-miR-129-5p	CLIP-seq
MIRT967767	hsa-miR-136	CLIP-seq
MIRT967768	hsa-miR-1976	CLIP-seq
MIRT967769	hsa-miR-206	CLIP-seq
MIRT967770	hsa-miR-2392	CLIP-seq
MIRT967771	hsa-miR-3149	CLIP-seq
MIRT967772	hsa-miR-3152-3p	CLIP-seq
MIRT967773	hsa-miR-3652	CLIP-seq
MIRT967774	hsa-miR-3673	CLIP-seq
MIRT967775	hsa-miR-4264	CLIP-seq
MIRT967776	hsa-miR-4321	CLIP-seq
MIRT967777	hsa-miR-4430	CLIP-seq
MIRT967778	hsa-miR-4454	CLIP-seq
MIRT967779	hsa-miR-4662a-5p	CLIP-seq
MIRT967780	hsa-miR-4676-5p	CLIP-seq
MIRT967781	hsa-miR-4704-3p	CLIP-seq
MIRT967782	hsa-miR-4715-3p	CLIP-seq
MIRT967783	hsa-miR-4722-3p	CLIP-seq
MIRT967784	hsa-miR-4735-5p	CLIP-seq
MIRT967785	hsa-miR-4775	CLIP-seq
MIRT967786	hsa-miR-575	CLIP-seq
MIRT967787	hsa-miR-590-3p	CLIP-seq
MIRT967788	hsa-miR-613	CLIP-seq
MIRT967762	hsa-miR-1	CLIP-seq
MIRT967763	hsa-miR-1193	CLIP-seq
MIRT967765	hsa-miR-1249	CLIP-seq
MIRT967767	hsa-miR-136	CLIP-seq
MIRT967768	hsa-miR-1976	CLIP-seq
MIRT967769	hsa-miR-206	CLIP-seq
MIRT967770	hsa-miR-2392	CLIP-seq
MIRT967772	hsa-miR-3152-3p	CLIP-seq
MIRT967773	hsa-miR-3652	CLIP-seq
MIRT967774	hsa-miR-3673	CLIP-seq
MIRT967777	hsa-miR-4430	CLIP-seq
MIRT1986716	hsa-miR-4438	CLIP-seq
MIRT967778	hsa-miR-4454	CLIP-seq
MIRT967779	hsa-miR-4662a-5p	CLIP-seq
MIRT967780	hsa-miR-4676-5p	CLIP-seq
MIRT1986717	hsa-miR-5095	CLIP-seq
MIRT967786	hsa-miR-575	CLIP-seq
MIRT967788	hsa-miR-613	CLIP-seq
MIRT967762	hsa-miR-1	CLIP-seq
MIRT967769	hsa-miR-206	CLIP-seq
MIRT967773	hsa-miR-3652	CLIP-seq
MIRT967774	hsa-miR-3673	CLIP-seq
MIRT967777	hsa-miR-4430	CLIP-seq
MIRT967784	hsa-miR-4735-5p	CLIP-seq
MIRT967785	hsa-miR-4775	CLIP-seq
MIRT967787	hsa-miR-590-3p	CLIP-seq
MIRT967788	hsa-miR-613	CLIP-seq
MIRT967762	hsa-miR-1	CLIP-seq
MIRT2387510	hsa-miR-1307	CLIP-seq
MIRT967769	hsa-miR-206	CLIP-seq
MIRT967773	hsa-miR-3652	CLIP-seq
MIRT967774	hsa-miR-3673	CLIP-seq
MIRT967777	hsa-miR-4430	CLIP-seq
MIRT967788	hsa-miR-613	CLIP-seq
MIRT967762	hsa-miR-1	CLIP-seq
MIRT967766	hsa-miR-129-5p	CLIP-seq
MIRT2387510	hsa-miR-1307	CLIP-seq
MIRT967769	hsa-miR-206	CLIP-seq
MIRT967771	hsa-miR-3149	CLIP-seq
MIRT967773	hsa-miR-3652	CLIP-seq
MIRT967774	hsa-miR-3673	CLIP-seq
MIRT967776	hsa-miR-4321	CLIP-seq
MIRT967777	hsa-miR-4430	CLIP-seq
MIRT967782	hsa-miR-4715-3p	CLIP-seq
MIRT967784	hsa-miR-4735-5p	CLIP-seq
MIRT967785	hsa-miR-4775	CLIP-seq
MIRT967787	hsa-miR-590-3p	CLIP-seq
MIRT967788	hsa-miR-613	CLIP-seq
MIRT967762	hsa-miR-1	CLIP-seq
MIRT967766	hsa-miR-129-5p	CLIP-seq
MIRT2387510	hsa-miR-1307	CLIP-seq
MIRT967769	hsa-miR-206	CLIP-seq
MIRT967771	hsa-miR-3149	CLIP-seq
MIRT967773	hsa-miR-3652	CLIP-seq
MIRT967774	hsa-miR-3673	CLIP-seq
MIRT967776	hsa-miR-4321	CLIP-seq
MIRT967777	hsa-miR-4430	CLIP-seq
MIRT967782	hsa-miR-4715-3p	CLIP-seq
MIRT967783	hsa-miR-4722-3p	CLIP-seq
MIRT967784	hsa-miR-4735-5p	CLIP-seq
MIRT967785	hsa-miR-4775	CLIP-seq
MIRT967787	hsa-miR-590-3p	CLIP-seq
MIRT967788	hsa-miR-613	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
IRF1	Unknown	15691326
IRF2	Unknown	15691326
NFKB1	Unknown	20103633
RELA	Unknown	20103633
SPI1	Unknown	15691326

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0002250	Process	Adaptive immune response	IEA
GO:0002376	Process	Immune system process	IEA
GO:0002474	Process	Antigen processing and presentation of peptide antigen via MHC class I	TAS
GO:0004175	Function	Endopeptidase activity	EXP	12436109, 12436110, 17088086
GO:0004177	Function	Aminopeptidase activity	IDA	12799365
GO:0004177	Function	Aminopeptidase activity	IEA
GO:0005515	Function	Protein binding	IPI	15908954
GO:0005737	Component	Cytoplasm	IEA
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005788	Component	Endoplasmic reticulum lumen	IBA
GO:0005788	Component	Endoplasmic reticulum lumen	IDA	12799365
GO:0005788	Component	Endoplasmic reticulum lumen	TAS	15691326
GO:0005789	Component	Endoplasmic reticulum membrane	IEA
GO:0006508	Process	Proteolysis	IBA
GO:0006508	Process	Proteolysis	IEA
GO:0008217	Process	Regulation of blood pressure	IEA
GO:0008217	Process	Regulation of blood pressure	TAS	12799365
GO:0008233	Function	Peptidase activity	IEA
GO:0008237	Function	Metallopeptidase activity	IDA	12799365
GO:0008237	Function	Metallopeptidase activity	IEA
GO:0008270	Function	Zinc ion binding	IEA
GO:0008270	Function	Zinc ion binding	TAS	12799365
GO:0016020	Component	Membrane	IEA
GO:0016787	Function	Hydrolase activity	IEA
GO:0019885	Process	Antigen processing and presentation of endogenous peptide antigen via MHC class I	IEA
GO:0019885	Process	Antigen processing and presentation of endogenous peptide antigen via MHC class I	TAS	15691326
GO:0043171	Process	Peptide catabolic process	IBA
GO:0046872	Function	Metal ion binding	IEA
GO:0070006	Function	Metalloaminopeptidase activity	IBA

Other IDs

• MIM: 609497
• HGNC: 29499
• e!Ensembl: ENSG00000164308

Protein

• UniProt ID: Q6P179
• Protein name: Endoplasmic reticulum aminopeptidase 2 (EC 3.4.11.-) (Leukocyte-derived arginine aminopeptidase) (L-RAP)
• Protein function: Aminopeptidase that plays a central role in peptide trimming, a step required for the generation of most HLA class I-binding peptides. Peptide trimming is essential to customize longer precursor peptides to fit them to the correct length require
• PDB: 3SE6, 4E36, 4JBS, 5AB0, 5AB2, 5CU5, 5J6S, 5K1V, 6EA4, 7NSK, 7NUP, 7P7P, 7PFS, 7SH0
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF17900	Peptidase_M1_N	74 → 263		Domain
  PF01433	Peptidase_M1	298 → 541	Peptidase family M1 domain	Domain
  PF11838	ERAP1_C	620 → 940	ERAP1-like C-terminal domain	Domain

• Tissue specificity: TISSUE SPECIFICITY: Ubiquitously expressed. Highly expressed in spleen and leukocytes. {ECO:0000269|PubMed:12799365}.
• Sequence:

  MFHSSAMVNSHRKPMFNIHRGFYCLTAILPQICICSQFSVPSSYHFTEDPGAFPVATNGE
  RFPWQELRLPSVVIPLHYDLFVHPNLTSLDFVASEKIEVLVSNATQFIILHSKDLEITNA
  TLQSEEDSRYMKPGKELKVLSYPAHEQIALLVPEKLTPHLKYYVAMDFQAKLGDGFEGFY
  KSTYRTLGGETRILAVTDFEPTQARMAFPCFDEPLFKANFSIKIRRESRHIALSNMPKVK
  TIELEGGLLEDHFETTVKMSTYLVAYIVCDFHSLSGFTSSGVKVSIYASPDKRNQTHYAL
  QASLKLLDFYEKYFDIYYPLSKLDLIAIPDFAPGAMENWGLITYRETSLLFDPKTSSASD
  KLWVTRVIAHELAHQWFGNLVTMEWWNDIWLKEGFAKYMELIAVNATYPELQFDDYFLNV
  CFEVITKDSLNSSRPISKPAETPTQIQEMFDEVSYNKGACILNMLKDFLGEEKFQKGIIQ
  YLKKFSYRNAKNDDLWSSLSNSCLESDFTSGGVCHSDPKMTSNMLAFLGENAEVKEMMTT
  WTLQKGIPLLVVKQDGCSLRLQQERFLQGVFQEDPEWRALQERYLWHIPLTYSTSSSNVI
  HRHILKSKTDTLDLPEKTSWVKFNVDSNGYYIVHYEGHGWDQLITQLNQNHTLLRPKDRV
  GLIHDVFQLVGAGRLTLDKALDMTYYLQHETSSPALLEGLSYLESFYHMMDRRNISDISE
  NLKRYLLQYFKPVIDRQSWSDKGSVWDRMLRSALLKLACDLNHAPCIQKAAELFSQWMES
  SGKLNIPTDVLKIVYSVGAQTTAGWNYLLEQYELSMSSAEQNKILYALSTSKHQEKLLKL
  IELGMEGKVIKTQNLAALLHAIARRPKGQQLAWDFVRENWTHLLKKFDLGSYDIRMIISG
  TTAHFSSKDKLQEVKLFFESLEAQGSHLDIFQTVLETITKNIKWLEKNLPTLRTWLMVNT
  

• Sequence length: 960

Pathways

Reactome:

Antigen Presentation: Folding, assembly and peptide loading of class I MHC

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
ANKYLOSING SPONDYLITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATTENTION DEFICIT HYPERACTIVITY DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOIMMUNE DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOIMMUNE THYROID DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BIRDSHOT CHORIORETINOPATHY	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOVASCULAR DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CELIAC DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COMMON VARIABLE IMMUNODEFICIENCY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CROHN DISEASE	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CROHN'S DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTENSION	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INFLAMMATORY BOWEL DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
JUVENILE IDIOPATHIC ARTHRITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lymphoma	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PSORIASIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCLEROSING CHOLANGITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SUBSTANCE ABUSE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SYSTEMIC LUPUS ERYTHEMATOSUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 1 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ULCERATIVE COLITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Ankylosing spondylitis	Ankylosing Spondylitis	BEFREE	19433412, 20531381, 20595269, 26088389, 27110896, 28029742, 28063628, 28083616, 28651467, 29108111, 29480940, 30419264, 30794838, 31530632		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ankylosing spondylitis	Ankylosing Spondylitis	GWASCAT_DG	23749187, 26301688, 26974007		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Arthritis Juvenile	Juvenile arthritis	Pubtator	25540605, 37229810	Associate	★☆☆☆☆ Found in Text Mining only
Arthritis Psoriatic	Psoriatic arthritis	Pubtator	28083616	Associate	★☆☆☆☆ Found in Text Mining only
Arthritis, Psoriatic	Psoriatic Arthritis	BEFREE	28083616		★☆☆☆☆ Found in Text Mining only
AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1	Autoimmune Diseases	GWASCAT_DG	26301688		★☆☆☆☆ Found in Text Mining only
AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 2	Autoimmune Diseases	GWASCAT_DG	26301688		★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune Diseases	BEFREE	22253828, 22575366, 27829666, 28337326, 28759104, 30797823, 31147931		★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune Diseases	GWASCAT_DG	26301688		★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune disease	Pubtator	28651467, 32265295, 36261521, 36889308, 38190099	Associate	★☆☆☆☆ Found in Text Mining only
Autoimmune thyroiditis	Autoimmune Thyroiditis	GWASCAT_DG	26301688		★☆☆☆☆ Found in Text Mining only
Azoospermia	Azoospermia	Pubtator	27628680	Associate	★☆☆☆☆ Found in Text Mining only
Bare Lymphocyte Syndrome Type I	Bare lymphocyte syndrome	Pubtator	28651467	Associate	★☆☆☆☆ Found in Text Mining only
Behcet Syndrome	Behcet disease	Pubtator	25892735, 28651467, 31092671	Associate	★☆☆☆☆ Found in Text Mining only
Behcet Syndrome	Behcet Syndrome	BEFREE	28651467, 31092671		★☆☆☆☆ Found in Text Mining only
Birdshot chorioretinopathy	Birdshot Chorioretinopathy	BEFREE	24957906, 29769354, 30419264		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Birdshot Chorioretinopathy	Birdshot chorioretinopathy	Pubtator	24957906, 29769354, 34727153	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bladder Neoplasm	Bladder Neoplasm	BEFREE	30463956		★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	36214762	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma of bladder	Bladder carcinoma	BEFREE	30463956		★☆☆☆☆ Found in Text Mining only
Carcinoma Pancreatic Ductal	Pancreatic ductal carcinoma	Pubtator	34642112	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	23696916	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	34992605	Associate	★☆☆☆☆ Found in Text Mining only
Celiac Disease	Celiac disease	GWASCAT_DG	26301688		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangitis, Sclerosing	Cholangitis	GWASCAT_DG	26974007		★☆☆☆☆ Found in Text Mining only
Choriocarcinoma	Choriocarcinoma	BEFREE	29324974		★☆☆☆☆ Found in Text Mining only
Common Variable Immunodeficiency	Common Variable Immunodeficiency	GWASCAT_DG	26301688		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	BEFREE	23696916		★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn Disease	GWASCAT_DG	21102463, 26192919, 26301688, 26974007, 28067908		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Crohn Disease	Crohn Disease	CTD_human_DG	21102463		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Crohn Disease	Crohn Disease	GWASDB_DG	21102463		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Crohn Disease	Crohn Disease	BEFREE	22253828, 28029742		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Crohn Disease	Crohn disease	Pubtator	22253828, 30446528, 36889308	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Crohn`s disease of large bowel	Crohn`s Disease Of Large Bowel	CTD_human_DG	21102463		★☆☆☆☆ Found in Text Mining only
Crohn`s disease of the ileum	Crohn`s Disease Of The Ileum	CTD_human_DG	21102463		★☆☆☆☆ Found in Text Mining only
Dermatitis, Atopic	Dermatitis	BEFREE	30680818		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	BEFREE	17129607		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	GWASCAT_DG	26301688		★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathies	Diabetic neuropathy	Pubtator	36444934	Associate	★☆☆☆☆ Found in Text Mining only
Eczema	Eczema	BEFREE	30680818		★☆☆☆☆ Found in Text Mining only
Essential Hypertension	Hypertension	BEFREE	19578876		★☆☆☆☆ Found in Text Mining only
Essential Hypertension	Hypertension	Pubtator	19578876	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	25356585	Associate	★☆☆☆☆ Found in Text Mining only
IIeocolitis	Ileocolitis	CTD_human_DG	21102463		★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory bowel disease	Pubtator	22543157, 25766683, 28651467	Associate	★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory Bowel Disease	GWASDB_DG	23128233		★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory Bowel Disease	GWASCAT_DG	23128233, 26192919, 28067908		★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory Bowel Disease	BEFREE	28651467		★☆☆☆☆ Found in Text Mining only
Juvenile arthritis	Arthritis	GWASCAT_DG	26301688		★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Systemic	Lupus Erythematosus	GWASCAT_DG	26301688		★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	26148615	Associate	★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of urinary bladder	Urinary bladder cancer	BEFREE	30463956		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	28343731, 30463956, 30825518		★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	20419298	Inhibit	★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	16585582, 23696916, 28343731, 28977897		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	20103633		★☆☆☆☆ Found in Text Mining only
Osteoarthritis	Osteoarthritis	Pubtator	33782454	Associate	★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	Pubtator	39884015	Inhibit	★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	32596278, 34143198, 36214762, 38330578	Associate	★☆☆☆☆ Found in Text Mining only
Papillary thyroid carcinoma	Papillary thyroid carcinoma	BEFREE	29552294		★☆☆☆☆ Found in Text Mining only
Polyarteritis Nodosa	Polyarteritis Nodosa	BEFREE	30463956		★☆☆☆☆ Found in Text Mining only
POLYARTERITIS NODOSA, CHILDHOOD-ONSET	Polyarteritis Nodosa	BEFREE	30463956		★☆☆☆☆ Found in Text Mining only
Psoriasis	Psoriasis	GWASCAT_DG	23143594, 26301688, 26974007		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Psoriasis	Psoriasis	BEFREE	28083616, 29183862		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Psoriasis	Psoriasis	Pubtator	28083616	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Psoriasis vulgaris	Psoriasis vulgaris	BEFREE	29183862		★☆☆☆☆ Found in Text Mining only
Regional enteritis	Crohn Disease	CTD_human_DG	21102463		★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	BEFREE	23696916		★☆☆☆☆ Found in Text Mining only
Respiratory Tract Infections	Respiratory system infectious disease	Pubtator	36889308	Associate	★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	27384923		★☆☆☆☆ Found in Text Mining only
Spondylarthritis	Spondyloarthritis	BEFREE	27110896, 28083616, 28759104		★☆☆☆☆ Found in Text Mining only
Spondylitis Ankylosing	Ankylosing spondylitis	Pubtator	25892735, 28083616, 28651467, 29769354, 31530632, 32265295, 32917832	Associate	★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of mouth	Oral cavity carcinoma	BEFREE	28977897		★☆☆☆☆ Found in Text Mining only
Ulcerative Colitis	Ulcerative colitis	GWASCAT_DG	26301688, 26974007		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	30463956	Associate	★☆☆☆☆ Found in Text Mining only
Uterine Cervical Dysplasia	Uterine disease	Pubtator	32321463	Associate	★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	32321463	Associate	★☆☆☆☆ Found in Text Mining only
Uveitis	Uveitis	BEFREE	30215709		★☆☆☆☆ Found in Text Mining only
Uveitis	Uveitis	Pubtator	33717175	Associate	★☆☆☆☆ Found in Text Mining only