ERAP1 (endoplasmic reticulum aminopeptidase 1)

Gene

• Entrez ID: 51752
• Gene name: Endoplasmic reticulum aminopeptidase 1
• Gene symbol: ERAP1
• Synonyms (NCBI Gene): A-LAP, ALAP, APPILS, ARTS-1, ARTS1, ERAAP, ERAAP1, PILS-AP, PILSAP
• Chromosome: 5
• Chromosome location: 5q15
• Summary: The protein encoded by this gene is an aminopeptidase involved in trimming HLA class I-binding precursors so that they can be presented on MHC class I molecules. The encoded protein acts as a monomer or as a heterodimer with ERAP2. This protein may also b

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT019189	hsa-miR-335-5p	Microarray	18185580
MIRT030332	hsa-miR-26b-5p	Microarray	19088304
MIRT049298	hsa-miR-92a-3p	CLASH	23622248
MIRT440714	hsa-miR-106b-5p	HITS-CLIP	22473208
MIRT440712	hsa-miR-20a-5p	HITS-CLIP	22473208
MIRT440714	hsa-miR-106b-5p	HITS-CLIP	22473208
MIRT727750	hsa-miR-17-5p	HITS-CLIP	22473208
MIRT727751	hsa-miR-20b-5p	HITS-CLIP	22473208
MIRT727749	hsa-miR-93-5p	HITS-CLIP	22473208
MIRT727748	hsa-miR-519d-3p	HITS-CLIP	22473208
MIRT440712	hsa-miR-20a-5p	HITS-CLIP	22473208
MIRT967725	hsa-miR-1253	CLIP-seq
MIRT967726	hsa-miR-3119	CLIP-seq
MIRT967727	hsa-miR-3163	CLIP-seq
MIRT967728	hsa-miR-3662	CLIP-seq
MIRT967729	hsa-miR-1256	CLIP-seq
MIRT967730	hsa-miR-1270	CLIP-seq
MIRT967731	hsa-miR-140-3p	CLIP-seq
MIRT967732	hsa-miR-143	CLIP-seq
MIRT967733	hsa-miR-181a	CLIP-seq
MIRT967734	hsa-miR-181b	CLIP-seq
MIRT967735	hsa-miR-181c	CLIP-seq
MIRT967736	hsa-miR-181d	CLIP-seq
MIRT967737	hsa-miR-218	CLIP-seq
MIRT967738	hsa-miR-323-3p	CLIP-seq
MIRT967739	hsa-miR-4262	CLIP-seq
MIRT967740	hsa-miR-4289	CLIP-seq
MIRT967741	hsa-miR-4428	CLIP-seq
MIRT967742	hsa-miR-4534	CLIP-seq
MIRT967743	hsa-miR-4683	CLIP-seq
MIRT967744	hsa-miR-4699-3p	CLIP-seq
MIRT967745	hsa-miR-4770	CLIP-seq
MIRT967746	hsa-miR-4775	CLIP-seq
MIRT967747	hsa-miR-4786-5p	CLIP-seq
MIRT967748	hsa-miR-4789-5p	CLIP-seq
MIRT967749	hsa-miR-4795-3p	CLIP-seq
MIRT967750	hsa-miR-590-3p	CLIP-seq
MIRT967751	hsa-miR-620	CLIP-seq
MIRT967752	hsa-miR-656	CLIP-seq
MIRT967753	hsa-miR-889	CLIP-seq
MIRT2524909	hsa-miR-1294	CLIP-seq
MIRT2524910	hsa-miR-136	CLIP-seq
MIRT2524911	hsa-miR-1827	CLIP-seq
MIRT2524912	hsa-miR-4274	CLIP-seq
MIRT2524913	hsa-miR-4282	CLIP-seq
MIRT2524914	hsa-miR-4310	CLIP-seq
MIRT2524915	hsa-miR-4316	CLIP-seq
MIRT2524916	hsa-miR-4519	CLIP-seq
MIRT2524917	hsa-miR-4661-5p	CLIP-seq
MIRT2524918	hsa-miR-4666-5p	CLIP-seq
MIRT2524919	hsa-miR-4677-3p	CLIP-seq
MIRT967744	hsa-miR-4699-3p	CLIP-seq
MIRT2524920	hsa-miR-485-3p	CLIP-seq
MIRT2524921	hsa-miR-515-5p	CLIP-seq
MIRT2524922	hsa-miR-548b-3p	CLIP-seq
MIRT2524923	hsa-miR-668	CLIP-seq
MIRT2524924	hsa-miR-936	CLIP-seq
MIRT2524925	hsa-miR-944	CLIP-seq
MIRT2524909	hsa-miR-1294	CLIP-seq
MIRT2524910	hsa-miR-136	CLIP-seq
MIRT2524911	hsa-miR-1827	CLIP-seq
MIRT2524913	hsa-miR-4282	CLIP-seq
MIRT2524915	hsa-miR-4316	CLIP-seq
MIRT2524918	hsa-miR-4666-5p	CLIP-seq
MIRT2524919	hsa-miR-4677-3p	CLIP-seq
MIRT967744	hsa-miR-4699-3p	CLIP-seq
MIRT2524921	hsa-miR-515-5p	CLIP-seq
MIRT2524925	hsa-miR-944	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
NFKB1	Unknown	20103633
RELA	Unknown	20103633

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001525	Process	Angiogenesis	TAS	15691326
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:0002502	Process	Peptide antigen assembly with MHC class I protein complex	IDA	36104323
GO:0004175	Function	Endopeptidase activity	EXP	12436109, 12436110, 17088086
GO:0004177	Function	Aminopeptidase activity	IDA	10220586, 12748171
GO:0004177	Function	Aminopeptidase activity	IEA
GO:0005138	Function	Interleukin-6 receptor binding	IPI	12748171
GO:0005151	Function	Interleukin-1, type II receptor binding	TAS	15691326
GO:0005515	Function	Protein binding	IPI	15908954, 18445477
GO:0005576	Component	Extracellular region	IDA	11056387
GO:0005615	Component	Extracellular space	HDA	16502470
GO:0005737	Component	Cytoplasm	IEA
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005783	Component	Endoplasmic reticulum	NAS	12748171
GO:0005788	Component	Endoplasmic reticulum lumen	TAS	15691326
GO:0005789	Component	Endoplasmic reticulum membrane	IEA
GO:0005829	Component	Cytosol	NAS	10220586
GO:0006508	Process	Proteolysis	IBA
GO:0006508	Process	Proteolysis	IEA
GO:0006508	Process	Proteolysis	IEA
GO:0006509	Process	Membrane protein ectodomain proteolysis	IDA	12748171
GO:0008217	Process	Regulation of blood pressure	IEA
GO:0008217	Process	Regulation of blood pressure	NAS	11056387
GO:0008217	Process	Regulation of blood pressure	TAS	15691326
GO:0008233	Function	Peptidase activity	IEA
GO:0008235	Function	Metalloexopeptidase activity	IDA	10220586
GO:0008237	Function	Metallopeptidase activity	IEA
GO:0008270	Function	Zinc ion binding	IEA
GO:0008270	Function	Zinc ion binding	NAS	10220586
GO:0009617	Process	Response to bacterium	NAS	16034137
GO:0016020	Component	Membrane	HDA	19946888
GO:0016020	Component	Membrane	IEA
GO:0016020	Component	Membrane	NAS	12748171
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	NAS	12748171
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:0045088	Process	Regulation of innate immune response	NAS	12748171
GO:0045444	Process	Fat cell differentiation	NAS	11056387
GO:0045766	Process	Positive regulation of angiogenesis	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0070006	Function	Metalloaminopeptidase activity	IBA
GO:0070062	Component	Extracellular exosome	HDA	19199708

Other IDs

• MIM: 606832
• HGNC: 18173
• e!Ensembl: ENSG00000164307

Protein

• UniProt ID: Q9NZ08
• Protein name: Endoplasmic reticulum aminopeptidase 1 (EC 3.4.11.-) (ARTS-1) (Adipocyte-derived leucine aminopeptidase) (A-LAP) (Aminopeptidase PILS) (Puromycin-insensitive leucyl-specific aminopeptidase) (PILS-AP) (Type 1 tumor necrosis factor receptor shedding aminope
• 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: 2YD0, 3MDJ, 3QNF, 3RJO, 5J5E, 6M8P, 6MGQ, 6Q4R, 6RQX, 6RYF, 6T6R, 7MWB, 7MWC, 7Z28, 9GJN, 9GJS, 9GK6, 9GKE
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF17900	Peptidase_M1_N	59 → 246		Domain
  PF01433	Peptidase_M1	281 → 524	Peptidase family M1 domain	Domain
  PF11838	ERAP1_C	597 → 917	ERAP1-like C-terminal domain	Domain

• Tissue specificity: TISSUE SPECIFICITY: Ubiquitous.
• Sequence:

  MVFLPLKWSLATMSFLLSSLLALLTVSTPSWCQSTEASPKRSDGTPFPWNKIRLPEYVIP
  VHYDLLIHANLTTLTFWGTTKVEITASQPTSTIILHSHHLQISRATLRKGAGERLSEEPL
  QVLEHPRQEQIALLAPEPLLVGLPYTVVIHYAGNLSETFHGFYKSTYRTKEGELRILAST
  QFEPTAARMAFPCFDEPAFKASFSIKIRREPRHLAISNMPLVKSVTVAEGLIEDHFDVTV
  KMSTYLVAFIISDFESVSKITKSGVKVSVYAVPDKINQADYALDAAVTLLEFYEDYFSIP
  YPLPKQDLAAIPDFQSGAMENWGLTTYRESALLFDAEKSSASSKLGITMTVAHELAHQWF
  GNLVTMEWWNDLWLNEGFAKFMEFVSVSVTHPELKVGDYFFGKCFDAMEVDALNSSHPVS
  TPVENPAQIREMFDDVSYDKGACILNMLREYLSADAFKSGIVQYLQKHSYKNTKNEDLWD
  SMASICPTDGVKGMDGFCSRSQHSSSSSHWHQEGVDVKTMMNTWTLQKGFPLITITVRGR
  NVHMKQEHYMKGSDGAPDTGYLWHVPLTFITSKSDMVHRFLLKTKTDVLILPEEVEWIKF
  NVGMNGYYIVHYEDDGWDSLTGLLKGTHTAVSSNDRASLINNAFQLVSIGKLSIEKALDL
  SLYLKHETEIMPVFQGLNELIPMYKLMEKRDMNEVETQFKAFLIRLLRDLIDKQTWTDEG
  SVSERMLRSQLLLLACVHNYQPCVQRAEGYFRKWKESNGNLSLPVDVTLAVFAVGAQSTE
  GWDFLYSKYQFSLSSTEKSQIEFALCRTQNKEKLQWLLDESFKGDKIKTQEFPQILTLIG
  RNPVGYPLAWQFLRKNWNKLVQKFELGSSSIAHMVMGTTNQFSTRTRLEEVKGFFSSLKE
  NGSQLRCVQQTIETIEENIGWMDKNFDKIRVWLQSEKLERM

• Sequence length: 941

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
Acute myeloid leukemia	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANKYLOSING SPONDYLITIS	—	Disgenet, GWAS catalog Disgenet, GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANTERIOR UVEITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATOPIC ECZEMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Behcet disease	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BEHCET SYNDROME	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BEHCET'S SYNDROME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOVASCULAR DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLORECTAL CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CROHN'S DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMORRHAGIC FEVER WITH RENAL SYNDROME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HODGKINS LYMPHOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTENSION	—	CTD, GWAS catalog CTD, GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTENSIVE DISEASE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INFLAMMATORY SKIN DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LIVER CIRRHOSIS, EXPERIMENTAL	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Long QT syndrome	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PEELING SKIN, LEUKONYCHIA, ACRAL PUNCTATE KERATOSES, CHEILITIS, KNUCKLE PADS SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PSORIASIS	—	CTD, Disgenet, GWAS catalog CTD, Disgenet, GWAS catalog CTD, Disgenet, GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PSORIASIS VULGARIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCLEROSING CHOLANGITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ULCERATIVE COLITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
UVEITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Acne	Acne	HPO_DG			★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of large intestine	Colorectal Cancer	GWASCAT_DG	25990418		★☆☆☆☆ Found in Text Mining only
Ankylosing spondylitis	Ankylosing Spondylitis	LHGDN	17952073		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ankylosing spondylitis	Ankylosing Spondylitis	CTD_human_DG	17952073, 20062062, 21743469, 23291587		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ankylosing spondylitis	Ankylosing Spondylitis	BEFREE	18525349, 19404951, 19414429, 19433412, 19496308, 19541528, 19692350, 19772829, 19877036, 19917163, 20032103, 20084006, 20463747, 20531381, 20595269, 21041274, 21068102, 21078719, 21229357, 21281511, 21508329, 21574996, 21743469, 21833528, 21865284, 21877190, 21965815, 22355039, 22632381, 22782541, 22896742, 22918227, 23093722, 23123136, 23264405, 23272049, 23308121, 23452840, 23656713, 23800305, 23864143, 23916068, 23990399, 24028501, 24046467, 24352655, 24504800, 24666027, 25187574, 25354578, 25401226, 25422414, 25434650, 25469497, 25817437, 25994336, 26130142, 26321090, 26350268, 26610302, 26617903, 27095091, 27107845, 27108589, 27152700, 27458846, 28049827, 28063628, 28083616, 28161768, 28188227, 28651467, 28901420, 29108111, 29278768, 29409751, 29480940, 29632046, 29803000, 30127455, 30412714, 30461632, 30518188, 30740100, 30740926, 30769005, 30794838, 31523044, 31711818		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ankylosing spondylitis	Ankylosing Spondylitis	GWASCAT_DG	20062062, 21743469, 23749187, 26974007, 30946743		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ankylosing spondylitis	Ankylosing Spondylitis	GWASDB_DG	20062062, 21743469		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ankylosis	Ankylosis	Pubtator	21574996	Associate	★☆☆☆☆ Found in Text Mining only
Anorexia	Anorexia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Anterior uveitis	Uveitis	GWASCAT_DG	25200001		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Aortic Valve Insufficiency	Aortic Valve Insufficiency	HPO_DG			★☆☆☆☆ Found in Text Mining only
Arthritis	Arthritis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Arthritis Juvenile	Juvenile arthritis	Pubtator	21281511	Associate	★☆☆☆☆ Found in Text Mining only
Arthritis Psoriatic	Psoriatic arthritis	Pubtator	22298274, 28083616, 34580106	Associate	★☆☆☆☆ Found in Text Mining only
Arthritis Psoriatic	Psoriatic arthritis	Pubtator	33452865	Stimulate	★☆☆☆☆ Found in Text Mining only
Arthritis, Psoriatic	Psoriatic Arthritis	BEFREE	21281511, 22487796, 28083616		★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	Pubtator	22286212	Associate	★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune disease	Pubtator	21242517, 23733883, 31841350, 34580106	Associate	★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune Diseases	BEFREE	22575366, 23733883, 25591727, 27829666, 28759104, 28814066, 29678301, 30144977, 30797823, 30817945, 31147931, 31841350		★☆☆☆☆ Found in Text Mining only
Autoinflammatory disorder	Autoinflammatory Disease	BEFREE	28446606, 30769005		★☆☆☆☆ Found in Text Mining only
Bare Lymphocyte Syndrome Type I	Bare lymphocyte syndrome	Pubtator	28651467, 34580106	Associate	★☆☆☆☆ Found in Text Mining only
	Behcet Syndrome	Orphanet			★☆☆☆☆ Found in Text Mining only
Behcet Syndrome	Behcet Syndrome	BEFREE	23291587, 23633568, 24257369, 25019531, 26002026, 26002027, 26068404, 26097239, 26360328, 26393469, 26526644, 27217550, 27467286, 28446606, 28651467, 29017598, 30341905, 30514861, 30742879, 30769005, 30820838, 31092671, 31134098, 31790864		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Behcet Syndrome	Behcet Syndrome	GWASCAT_DG	23291587		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Behcet Syndrome	Behcet Syndrome	CTD_human_DG	23291587		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Behcet Syndrome	Behcet Syndrome	GWASDB_DG	23291587		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Behcet Syndrome	Behcet disease	Pubtator	25019531, 25892735, 26890122, 27217550, 28446606, 28651467, 29017598, 30514861, 30769005, 31092671, 32023277, 32161166, 33617882, 34580106, 35922122, 37003592	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Behcet Syndrome	Behcet Syndrome	ORPHANET_DG	26097239		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Birdshot chorioretinopathy	Birdshot Chorioretinopathy	BEFREE	25892735		★☆☆☆☆ Found in Text Mining only
Birdshot Chorioretinopathy	Birdshot chorioretinopathy	Pubtator	25892735, 34727153	Associate	★☆☆☆☆ Found in Text Mining only
Bone Diseases Metabolic	Bone disease	Pubtator	21424381	Associate	★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	39261450	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Endometrioid	Endometrioid carcinoma	Pubtator	14654715, 15741767	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	23024775	Associate	★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	HPO_DG			★☆☆☆☆ Found in Text Mining only
cervical cancer	Cervical Cancer	BEFREE	28811980		★☆☆☆☆ Found in Text Mining only
Cervical Intraepithelial Neoplasia	Cervical Intraepithelial Neoplasia	BEFREE	23024775, 28811980		★☆☆☆☆ Found in Text Mining only
Cervix carcinoma	Cervix carcinoma	BEFREE	17366619, 23733883, 26146606, 28811980		★☆☆☆☆ Found in Text Mining only
Cholangitis, Sclerosing	Cholangitis	GWASCAT_DG	26974007		★☆☆☆☆ Found in Text Mining only
Chronic Disease	Chronic disease	Pubtator	21508329, 33617882	Associate	★☆☆☆☆ Found in Text Mining only
Colitis	Colitis	BEFREE	30127455		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	23610143		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	GWASCAT_DG	25990418		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal Neoplasms	GWASCAT_DG	25990418		★☆☆☆☆ Found in Text Mining only
Cranial nerve palsies	Cranial Nerve Paralysis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn Disease	BEFREE	22253828		★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn disease	Pubtator	22253828	Associate	★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn Disease	GWASCAT_DG	26974007		★☆☆☆☆ Found in Text Mining only
Dermatitis, Atopic	Dermatitis	BEFREE	30680818		★☆☆☆☆ Found in Text Mining only
Developmental regression	Developmental regression	HPO_DG			★☆☆☆☆ Found in Text Mining only
Diabetic Retinopathy	Diabetic retinopathy	Pubtator	38194422	Associate	★☆☆☆☆ Found in Text Mining only
Eczema	Eczema	BEFREE	30680818		★☆☆☆☆ Found in Text Mining only
Encephalitis	Encephalitis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Endocarditis	Endocarditis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Endometrial Carcinoma	Endometrial carcinoma	BEFREE	15741767		★☆☆☆☆ Found in Text Mining only
Endometrial Neoplasms	Endometrial neoplasm	Pubtator	14654715, 15741767	Associate	★☆☆☆☆ Found in Text Mining only
Essential Hypertension	Hypertension	BEFREE	13678427, 16513116, 19578876, 25665737		★☆☆☆☆ Found in Text Mining only
Essential Hypertension	Hypertension	Pubtator	13678427, 16513116, 19578876	Associate	★☆☆☆☆ Found in Text Mining only
Gangrene	Gangrene	HPO_DG			★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	11856869		★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	11856869		★☆☆☆☆ Found in Text Mining only
Graves Ophthalmopathy	Graves ophthalmopathy	Pubtator	40065401	Associate	★☆☆☆☆ Found in Text Mining only
Heart Diseases	Heart disease	Pubtator	30514861	Associate	★☆☆☆☆ Found in Text Mining only
Hepatitis C	Hepatitis c	Pubtator	30769005	Associate	★☆☆☆☆ Found in Text Mining only
Hodgkin Disease	Hodgkin disease	Pubtator	22286212, 37372322	Associate	★☆☆☆☆ Found in Text Mining only
Hypertension	Hypertension	Pubtator	16513116	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypertensive disease	Hypertension	BEFREE	11857741, 16513116, 31672933		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypertensive disease	Hypertension	LHGDN	11857741		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypertensive disease	Hypertension	CTD_human_DG	13678427		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypertrophy Left Ventricular	Left ventricular disease	Pubtator	13678427	Associate	★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory bowel disease	Pubtator	19877036, 27458846, 28651467	Associate	★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory Bowel Disease	BEFREE	23291587, 27458846, 28651467		★☆☆☆☆ Found in Text Mining only
Juvenile arthritis	Arthritis	BEFREE	21281511		★☆☆☆☆ Found in Text Mining only
Juvenile psoriatic arthritis	Juvenile arthritis	BEFREE	21281511		★☆☆☆☆ Found in Text Mining only
Keratoconjunctivitis Sicca	Keratoconjunctivitis Sicca	HPO_DG			★☆☆☆☆ Found in Text Mining only
Left Ventricular Hypertrophy	Left Ventricular Hypertrophy	BEFREE	13678427		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	40311306	Associate	★☆☆☆☆ Found in Text Mining only
Malabsorption Syndrome	Malabsorption Syndrome	HPO_DG			★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of large intestine	Colorectal Neoplasms	GWASCAT_DG	25990418		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	28811980, 29559473, 29678301, 30825518, 31222486, 31341163		★☆☆☆☆ Found in Text Mining only
Malignant tumor of cervix	Cervical Tumor	BEFREE	28811980		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	GWASCAT_DG	25990418		★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	20419298	Inhibit	★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	26399368, 31222486	Associate	★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	31222486		★☆☆☆☆ Found in Text Mining only
Migraine Disorders	Migraine	HPO_DG			★☆☆☆☆ Found in Text Mining only
Mucocutaneous Lymph Node Syndrome	Kawasaki disease	Pubtator	21326860	Associate	★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple Sclerosis	BEFREE	22253828		★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple sclerosis	Pubtator	22253828	Associate	★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial Infarction	HPO_DG			★☆☆☆☆ Found in Text Mining only
Myositis	Myositis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	15187024, 16585582, 18393273, 23610143, 23696916, 26146606, 28613839, 29559473, 31151965, 31341163		★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	28083613		★☆☆☆☆ Found in Text Mining only
Oral Ulcer	Oral Ulcer	HPO_DG			★☆☆☆☆ Found in Text Mining only
Pancreatitis	Pancreatitis	HPO_DG			★☆☆☆☆ Found in Text Mining only
PEELING SKIN WITH LEUKONYCHIA, ACRAL PUNCTATE KERATOSES, CHEILITIS, AND KNUCKLE PADS	Peeling Skin With Leukonychia, Acral Punctate Keratoses, Cheilitis, And Knuckle Pads	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Pericarditis	Pericarditis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Pleural effusion disorder	Pleural effusion	HPO_DG			★☆☆☆☆ Found in Text Mining only
Pleurisy	Pleuritis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Psoriasis	Psoriasis	Pubtator	19877036, 21508329, 22286212, 22298274, 22622420, 25892735, 28083616, 31577850, 33452865, 34580106, 39261450	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Psoriasis	Psoriasis	BEFREE	20953187, 20953190, 21508329, 22286212, 22487796, 22512642, 22931917, 23291587, 23541940, 24212883, 24791935, 26002026, 26002027, 28083616, 28867178, 29183862		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Psoriasis	Psoriasis	CTD_human_DG	20953187, 20953190, 23291587, 24212883		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Psoriasis	Psoriasis	GWASCAT_DG	20953190, 23143594, 25574825, 25854761, 26974007		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Psoriasis	Psoriasis	GWASDB_DG	20953190, 23143594		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Psoriasis vulgaris	Psoriasis vulgaris	BEFREE	23252691, 29183862, 30313118		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Psoriasis vulgaris	Psoriasis vulgaris	GWASCAT_DG	26626624		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pustulosis of Palms and Soles	Palmoplantar Pustules	CTD_human_DG	20953187, 20953190, 23291587, 24212883		★☆☆☆☆ Found in Text Mining only
Recurrent aphthous ulcer	Aphthous Ulcer	HPO_DG			★☆☆☆☆ Found in Text Mining only
Renal glomerular disease	Renal Glomerular Disease	HPO_DG			★☆☆☆☆ Found in Text Mining only
Renal Insufficiency	Renal Insufficiency	HPO_DG			★☆☆☆☆ Found in Text Mining only
Retinal Diseases	Retinal Diseases	HPO_DG			★☆☆☆☆ Found in Text Mining only
Retrobulbar Neuritis	Retrobulbar Neuritis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Spondylarthritis	Spondyloarthritis	BEFREE	22896742, 23800305, 25740711, 26068404, 27107845, 28188227, 28759104, 30646942		★☆☆☆☆ Found in Text Mining only
Spondylitis Ankylosing	Ankylosing spondylitis	Pubtator	17952073, 19404951, 19692350, 19877036, 20062062, 20463747, 21508329, 21574996, 21743469, 22034108, 22632381, 22918227, 23264405, 24028501, 24352655, 25422414, 25469497, 25892735, 25994336, 26130142, 26321090, 26617903, 27107845, 28049827, 28083616, 28651467, 29632046, 30518188, 30769005, 32917832, 34580106, 35430705, 35954271, 39468794, 40349828	Associate	★☆☆☆☆ Found in Text Mining only
Spondylitis Ankylosing	Ankylosing spondylitis	Pubtator	39185422	Stimulate	★☆☆☆☆ Found in Text Mining only
Ulcerative Colitis	Ulcerative colitis	GWASCAT_DG	26974007		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine Cervical Dysplasia	Uterine disease	Pubtator	23024775	Inhibit	★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	17622526, 23733883, 25796583, 26146606, 32321463	Associate	★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	32321463	Inhibit	★☆☆☆☆ Found in Text Mining only
Uveitis	Uveitis	BEFREE	30215709		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uveitis Anterior	Anterior uveitis	Pubtator	25200001, 32492107	Associate	★☆☆☆☆ Found in Text Mining only
Vasculitis	Vasculitis	HPO_DG			★☆☆☆☆ Found in Text Mining only