IL7R (interleukin 7 receptor)

Gene

• Entrez ID: 3575
• Gene name: Interleukin 7 receptor
• Gene symbol: IL7R
• Synonyms (NCBI Gene): CD127, CDW127, IL-7R-alpha, IL-7Ralpha, IL7RA, IL7Ralpha, ILRA, IMD104, lnc-IL7R, sIL-7R
• Chromosome: 5
• Chromosome location: 5p13.2
• Summary: The protein encoded by this gene is a receptor for interleukin 7 (IL7). The function of this receptor requires the interleukin 2 receptor, gamma chain (IL2RG), which is a common gamma chain shared by the receptors of various cytokines, including interleuk

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs104893893	G>A	Pathogenic	Intron variant, coding sequence variant, stop gained
rs104893894	C>T	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs141698985	C>T	Likely-pathogenic	Stop gained, coding sequence variant, non coding transcript variant
rs147153824	G>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, intron variant, missense variant
rs193922640	->ATATATTTCA	Likely-pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs193922641	G>A	Pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs193922642	A>C,G	Likely-pathogenic	Intron variant, missense variant, coding sequence variant
rs193922643	CG>TA	Likely-pathogenic	Intron variant, coding sequence variant, stop gained
rs193922645	G>T	Likely-pathogenic	Intron variant, missense variant, coding sequence variant
rs193922647	A>C	Likely-pathogenic	Stop lost, coding sequence variant, missense variant, non coding transcript variant, terminator codon variant
rs199641706	T>A,C	Pathogenic	Synonymous variant, coding sequence variant, non coding transcript variant
rs587778405	G>T	Not-provided, uncertain-significance, likely-pathogenic	Coding sequence variant, missense variant, intron variant
rs757797163	G>C,T	Likely-pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs766399441	T>-	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs766555082	C>G,T	Pathogenic	Intron variant, coding sequence variant, stop gained, missense variant
rs777878144	G>A	Pathogenic	Splice donor variant
rs786205572	T>G	Likely-pathogenic	Coding sequence variant, intron variant, stop gained
rs786205646	T>-	Likely-pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant, 3 prime UTR variant
rs869312857	->A	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1057519759	A>T	Likely-pathogenic	Missense variant, coding sequence variant, intron variant
rs1315265916	G>A	Pathogenic	Splice acceptor variant, intron variant
rs1390410878	C>A	Pathogenic	Intron variant, coding sequence variant, stop gained
rs1448018291	A>C,T	Pathogenic	Coding sequence variant, missense variant, stop gained, non coding transcript variant
rs1554066684	GAAA>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1554067182	->C	Pathogenic	Coding sequence variant, intron variant, frameshift variant
rs1561421608	AA>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1561423197	TT>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1561424886	A>G	Pathogenic	Intron variant, splice acceptor variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT029787	hsa-miR-26b-5p	Microarray	19088304
MIRT723842	hsa-miR-942-3p	HITS-CLIP	19536157
MIRT723841	hsa-miR-889-5p	HITS-CLIP	19536157
MIRT723840	hsa-miR-1228-3p	HITS-CLIP	19536157
MIRT723839	hsa-miR-6131	HITS-CLIP	19536157
MIRT723838	hsa-miR-3652	HITS-CLIP	19536157
MIRT723837	hsa-miR-4430	HITS-CLIP	19536157
MIRT723836	hsa-miR-4505	HITS-CLIP	19536157
MIRT723835	hsa-miR-5787	HITS-CLIP	19536157
MIRT723834	hsa-miR-3199	HITS-CLIP	19536157
MIRT723833	hsa-miR-8052	HITS-CLIP	19536157
MIRT723832	hsa-miR-365a-5p	HITS-CLIP	19536157
MIRT723831	hsa-miR-365b-5p	HITS-CLIP	19536157
MIRT723830	hsa-miR-377-3p	HITS-CLIP	19536157
MIRT723829	hsa-miR-6842-3p	HITS-CLIP	19536157
MIRT723828	hsa-miR-4474-3p	HITS-CLIP	19536157
MIRT545078	hsa-miR-32-3p	PAR-CLIP	21572407
MIRT545077	hsa-miR-190a-5p	PAR-CLIP	21572407
MIRT545076	hsa-miR-190b	PAR-CLIP	21572407
MIRT545075	hsa-miR-3682-3p	PAR-CLIP	21572407
MIRT545074	hsa-miR-4775	PAR-CLIP	21572407
MIRT545073	hsa-miR-3924	PAR-CLIP	21572407
MIRT723842	hsa-miR-942-3p	HITS-CLIP	19536157
MIRT723841	hsa-miR-889-5p	HITS-CLIP	19536157
MIRT723840	hsa-miR-1228-3p	HITS-CLIP	19536157
MIRT723839	hsa-miR-6131	HITS-CLIP	19536157
MIRT723838	hsa-miR-3652	HITS-CLIP	19536157
MIRT723837	hsa-miR-4430	HITS-CLIP	19536157
MIRT723836	hsa-miR-4505	HITS-CLIP	19536157
MIRT723835	hsa-miR-5787	HITS-CLIP	19536157
MIRT723834	hsa-miR-3199	HITS-CLIP	19536157
MIRT723833	hsa-miR-8052	HITS-CLIP	19536157
MIRT723832	hsa-miR-365a-5p	HITS-CLIP	19536157
MIRT723831	hsa-miR-365b-5p	HITS-CLIP	19536157
MIRT723830	hsa-miR-377-3p	HITS-CLIP	19536157
MIRT723829	hsa-miR-6842-3p	HITS-CLIP	19536157
MIRT723828	hsa-miR-4474-3p	HITS-CLIP	19536157
MIRT545078	hsa-miR-32-3p	PAR-CLIP	21572407
MIRT545077	hsa-miR-190a-5p	PAR-CLIP	21572407
MIRT545076	hsa-miR-190b	PAR-CLIP	21572407
MIRT545075	hsa-miR-3682-3p	PAR-CLIP	21572407
MIRT545074	hsa-miR-4775	PAR-CLIP	21572407
MIRT545073	hsa-miR-3924	PAR-CLIP	21572407
MIRT1065258	hsa-miR-600	CLIP-seq
MIRT1065259	hsa-miR-622	CLIP-seq
MIRT1065260	hsa-miR-629	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000018	Process	Regulation of DNA recombination	TAS	9495344
GO:0000902	Process	Cell morphogenesis	IEA
GO:0001782	Process	B cell homeostasis	IEA
GO:0001913	Process	T cell mediated cytotoxicity	IBA
GO:0001913	Process	T cell mediated cytotoxicity	IEA
GO:0001915	Process	Negative regulation of T cell mediated cytotoxicity	IEA
GO:0003823	Function	Antigen binding	TAS	9495344
GO:0004896	Function	Cytokine receptor activity	IDA	11418668, 20974963
GO:0004896	Function	Cytokine receptor activity	IEA
GO:0004917	Function	Interleukin-7 receptor activity	IBA
GO:0004917	Function	Interleukin-7 receptor activity	IDA	8128231
GO:0004917	Function	Interleukin-7 receptor activity	TAS	8266077
GO:0005515	Function	Protein binding	IPI	8266077, 19141282, 32296183, 35512704
GO:0005576	Component	Extracellular region	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005829	Component	Cytosol	IDA
GO:0005886	Component	Plasma membrane	IDA	8128231
GO:0005886	Component	Plasma membrane	IDA
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS
GO:0006955	Process	Immune response	TAS	9843216
GO:0007165	Process	Signal transduction	TAS	2317865
GO:0007166	Process	Cell surface receptor signaling pathway	TAS	9843216
GO:0008284	Process	Positive regulation of cell population proliferation	IDA	11418668
GO:0008361	Process	Regulation of cell size	IEA
GO:0009897	Component	External side of plasma membrane	IBA
GO:0009897	Component	External side of plasma membrane	IEA
GO:0010467	Process	Gene expression	IEA
GO:0010628	Process	Positive regulation of gene expression	IEA
GO:0016020	Component	Membrane	IEA
GO:0019221	Process	Cytokine-mediated signaling pathway	IDA	11418668
GO:0019221	Process	Cytokine-mediated signaling pathway	IEA
GO:0019725	Process	Cellular homeostasis	IDA	35021100
GO:0019725	Process	Cellular homeostasis	IDA	35021100
GO:0030097	Process	Hemopoiesis	IBA
GO:0030217	Process	T cell differentiation	IEA
GO:0030669	Component	Clathrin-coated endocytic vesicle membrane	TAS
GO:0033077	Process	T cell differentiation in thymus	IEA
GO:0033089	Process	Positive regulation of T cell differentiation in thymus	IEA
GO:0038111	Process	Interleukin-7-mediated signaling pathway	IBA
GO:0038111	Process	Interleukin-7-mediated signaling pathway	IC	20974963
GO:0038111	Process	Interleukin-7-mediated signaling pathway	IDA	8128231, 9182906, 20974963, 29202461
GO:0038111	Process	Interleukin-7-mediated signaling pathway	IDA	8128231
GO:0042100	Process	B cell proliferation	IEA
GO:0043029	Process	T cell homeostasis	IEA
GO:0046427	Process	Positive regulation of receptor signaling pathway via JAK-STAT	IBA
GO:0048535	Process	Lymph node development	IEA
GO:0050830	Process	Defense response to Gram-positive bacterium	IEA
GO:0070233	Process	Negative regulation of T cell apoptotic process	IEA
GO:1904894	Process	Positive regulation of receptor signaling pathway via STAT	IDA	11418668

Other IDs

• MIM: 146661
• HGNC: 6024
• e!Ensembl: ENSG00000168685

Protein

• UniProt ID: P16871
• Protein name: Interleukin-7 receptor subunit alpha (IL-7 receptor subunit alpha) (IL-7R subunit alpha) (IL-7R-alpha) (IL-7RA) (CDw127) (CD antigen CD127)
• Protein function: Receptor for interleukin-7. Also acts as a receptor for thymic stromal lymphopoietin (TSLP).
• PDB: 3DI2, 3DI3, 3UP1, 5J11, 6P50, 6P67, 7OPB
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF18447	FN3_7	32 → 127	Fibronectin type III domain	Domain
  PF00041	fn3	130 → 218	Fibronectin type III domain	Domain

• Sequence:

  MTILGTTFGMVFSLLQVVSGESGYAQNGDLEDAELDDYSFSCYSQLEVNGSQHSLTCAFE
  DPDVNITNLEFEICGALVEVKCLNFRKLQEIYFIETKKFLLIGKSNICVKVGEKSLTCKK
  IDLTTIVKPEAPFDLSVVYREGANDFVVTFNTSHLQKKYVKVLMHDVAYRQEKDENKWTH
  VNLSSTKLTLLQRKLQPAAMYEIKVRSIPDHYFKGFWSEWSPSYYFRTPEINNSSGEMDP
  ILLTISILSFFSVALLVILACVLWKKRIKPIVWPSLPDHKKTLEHLCKKPRKNLNVSFNP
  ESFLDCQIHRVDDIQARDEVEGFLQDTFPQQLEESEKQRLGGDVQSPNCPSEDVVITPES
  FGRDSSLTCLAGNVSACDAPILSSSRSLDCRESGKNGPHVYQDLLLSLGTTNSTLPPPFS
  LQSGILTLNPVAQGQPILTSLGSNQEEAYVTMSSFYQNQ

• Sequence length: 459

Pathways

KEGG:

Cytokine-cytokine receptor interaction
FoxO signaling pathway
PI3K-Akt signaling pathway
JAK-STAT signaling pathway
Hematopoietic cell lineage
Pathways in cancer
Primary immunodeficiency

Reactome:

Interleukin-7 signaling
Cargo recognition for clathrin-mediated endocytosis
Clathrin-mediated endocytosis

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Breast neoplasm	Pathogenic	rs1717980926	RCV002285231	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Histiocytic medullary reticulosis	Likely pathogenic	rs141698985	RCV000991308	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
IL7R-related disorder	Likely pathogenic	rs141698985	RCV003898007	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Immunodeficiency 104	Pathogenic; Likely pathogenic	rs201559094, rs1354581284, rs1759969389, rs587778405, rs1759660930, rs1225034187, rs1759788196, rs1387689607, rs199641706, rs869312857, rs1369125529, rs200044623, rs2531575374, rs2531547862, rs202007062, rs765287425, rs2531570514, rs1471668405, rs2531540640, rs2531575367, rs148001159, rs769954937, rs1315265916, rs104893893, rs104893894, rs886060531, rs748801798, rs139221577, rs2531580353, rs193922640, rs193922641, rs193922645, rs1554067182, rs1554066684, rs1561423197, rs200803157, rs766555082, rs777878144, rs1448018291, rs1390410878, rs141698985, rs1580851910, rs200076125	RCV002032697 RCV001783479 RCV001843964 RCV000688209 RCV001941548 RCV001962844 RCV001998094 RCV002651894 RCV000416601 RCV000210421 RCV003626814 RCV000763140 RCV003515298 RCV003515583 RCV003516297 RCV003516298 RCV003516299 RCV003516300 RCV003515847 RCV003626927 RCV003627613 RCV003627055 RCV000015966 RCV000015967 RCV000015968 RCV000341907 RCV003842892 RCV003835374 RCV003991954 RCV003514302 RCV000820355 RCV002513253 RCV000535007 RCV000640050 RCV000685277 RCV000689926 RCV000701107 RCV001233554 RCV000796316 RCV000822917 RCV001869366 RCV001030043 RCV001219210	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Multiple sclerosis, susceptibility to, 3	Pathogenic	rs869312857	RCV001336448	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Severe combined immunodeficiency disease	Pathogenic; Likely pathogenic	rs587778405, rs869312857, rs1369125529, rs193922640, rs193922641, rs193922643, rs193922645, rs1561423197, rs1561424886, rs200076125	RCV003479011 RCV001844088 RCV003155650 RCV000030060 RCV000030061 RCV000030063 RCV000030065 RCV001731887 RCV000735986 RCV004768927	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency	Pathogenic	rs201559094	RCV004017858	★★★★☆ 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
ASTHMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATOPIC ASTHMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATOPIC ECZEMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOIMMUNE THYROID DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BILIARY CIRRHOSIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BILIARY LIVER CIRRHOSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHRONIC LEFT-SIDED ULCERATIVE COLITIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHRONIC RHINOSINUSITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLITIS, ULCERATIVE	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DISORDER OF PHARYNX	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ENDOMETRIOSIS	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPOTHYROIDISM	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
IGA GLOMERULONEPHRITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
IMMUNODEFICIENCY 104, SEVERE COMBINED	—	HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
IMMUNODEFICIENCY 104, SEVERE COMBINED, SUSCEPTIBILITY TO	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LIVER CIRRHOSIS, BILIARY	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LIVER CIRRHOSIS, EXPERIMENTAL	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Multiple myeloma	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MULTIPLE SCLEROSIS	—	CTD, Disgenet, GWAS catalog CTD, Disgenet, GWAS catalog CTD, Disgenet, GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NASAL CAVITY POLYP	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NASAL DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OMENN SYNDROME	—	Disgenet, GenCC, Orphanet Disgenet, GenCC, Orphanet Disgenet, GenCC, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PRIMARY BILIARY CHOLANGITIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PRIMARY BILIARY CIRRHOSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PSORIASIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RESPIRATORY SYSTEM DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RHINITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SEASONAL ALLERGIC RHINITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SEVERE COMBINED IMMUNODEFICIENCY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL NEGATIVE, B CELL POSITIVE, NK CELL POSITIVE	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SKIN DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SYSTEMIC LUPUS ERYTHEMATOSUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 1 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ULCERATIVE COLITIS	—	Disgenet, GWAS catalog Disgenet, GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
UPPER RESPIRATORY TRACT DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Acute Coronary Syndrome	Coronary Syndrome	BEFREE	22872639		★☆☆☆☆ Found in Text Mining only
Acute leukemia	Leukemia	BEFREE	23069254		★☆☆☆☆ Found in Text Mining only
Acute lymphoblastic leukemia with lymphomatous features	Lymphoblastic Leukemia With Lymphomatous Features	CLINVAR_DG	22897847, 22955920		★☆☆☆☆ Found in Text Mining only
Acute lymphocytic leukemia	Lymphocytic Leukemia	BEFREE	11052810, 1378163, 21536738, 22368272, 22904298, 23340138, 24787007, 27322554, 28123588		★☆☆☆☆ Found in Text Mining only
Acute monocytic leukemia	Monocytic Leukemia	BEFREE	23069254		★☆☆☆☆ Found in Text Mining only
Acute pancreatitis	Pancreatitis	BEFREE	28174597		★☆☆☆☆ Found in Text Mining only
Acute Promyelocytic Leukemia	Promyelocytic Leukemia	BEFREE	27049062, 28912776		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	BEFREE	26582240		★☆☆☆☆ Found in Text Mining only
Adrenocortical Carcinoma	Adrenocortical carcinoma	Pubtator	34410225	Associate	★☆☆☆☆ Found in Text Mining only
Adult Acute Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	1378163, 22368272, 23340138, 27322554, 28123588		★☆☆☆☆ Found in Text Mining only
Adult Acute Myeloblastic Leukemia	Myeloblastic Leukemia	BEFREE	23069254		★☆☆☆☆ Found in Text Mining only
Agammaglobulinemia	Agammaglobulinemia	Pubtator	35611411	Inhibit	★☆☆☆☆ Found in Text Mining only
Allergic rhinitis (disorder)	Allergic rhinitis	GWASCAT_DG	30013184		★☆☆☆☆ Found in Text Mining only
Alopecia	Alopecia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Anemia	Anemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ankylosing spondylitis	Ankylosing Spondylitis	BEFREE	27165176, 27415816		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Aortic Aneurysm Abdominal	Aortic aneurysm	Pubtator	39586133	Stimulate	★☆☆☆☆ Found in Text Mining only
Arthralgia	Arthralgia	Pubtator	33168080	Associate	★☆☆☆☆ Found in Text Mining only
Arthritis	Arthritis	Pubtator	19714586	Stimulate	★☆☆☆☆ Found in Text Mining only
Arthritis	Arthritis	BEFREE	19744146		★☆☆☆☆ Found in Text Mining only
Arthritis	Arthritis	Pubtator	33168080	Associate	★☆☆☆☆ Found in Text Mining only
Arthritis Juvenile	Juvenile arthritis	Pubtator	20072139	Associate	★☆☆☆☆ Found in Text Mining only
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	19714586, 21129157, 21647866, 23280063, 25604867, 26314565, 30483789, 31131543, 32111105, 33168080, 33362761, 35015026, 36311761	Associate	★☆☆☆☆ Found in Text Mining only
Arthritis, Psoriatic	Psoriatic Arthritis	BEFREE	26152611		★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	BEFREE	16890764, 25048599, 26999524		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Asthma	Asthma	Pubtator	18581330, 19152963	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Asthma	Asthma	GWASCAT_DG	29785011		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autoimmune Chronic Hepatitis	Autoimmune hepatitis	BEFREE	31422415		★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune Diseases	BEFREE	16264332, 17928869, 22262655, 23831438, 25421942, 28601984, 28964592, 29456530, 29484785, 30342817, 30377306, 30443838, 30908554		★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune disease	Pubtator	20072139, 28284938, 29456530, 31594933, 32231389, 35589883, 36734626	Associate	★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune disease	Pubtator	28747257	Stimulate	★☆☆☆☆ Found in Text Mining only
Autoimmune Lymphoproliferative Syndrome	Autoimmune lymphoproliferative disorder	Pubtator	29686686	Associate	★☆☆☆☆ Found in Text Mining only
B-Cell Lymphomas	B-Cell Lymphoma	BEFREE	20952689		★☆☆☆☆ Found in Text Mining only
Biliary cirrhosis	Biliary cirrhosis	CTD_human_DG	21399635		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Biliary Cirrhosis, Primary, 1	Biliary cirrhosis	CTD_human_DG	21399635		★☆☆☆☆ Found in Text Mining only
Bone Resorption	Bone resorption	Pubtator	18479350	Associate	★☆☆☆☆ Found in Text Mining only
Brain Injuries Diffuse	Brain injuries	Pubtator	36894313	Associate	★☆☆☆☆ Found in Text Mining only
Brain Neoplasms	Brain neoplasms	Pubtator	37586773	Associate	★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	17546596, 28964592		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	30254632	Stimulate	★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	37441083, 38087296	Associate	★☆☆☆☆ Found in Text Mining only
Bronchial Hyperreactivity	Bronchial hyperreactivity	Pubtator	32032632	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Adenoid Cystic	Adenoid cystic carcinoma	Pubtator	22382400	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	12079511, 27821177, 32218692, 35243668, 36960063	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	19136250, 19505916, 21847632, 23069254, 24678068, 30362635		★☆☆☆☆ Found in Text Mining only
Carcinoma Ovarian Epithelial	Epithelial ovarian carcinoma	Pubtator	14504049	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Pancreatic Ductal	Pancreatic ductal carcinoma	Pubtator	35793870	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	19609102	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	33506299, 36438481	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Transitional Cell	Transitional cell carcinoma	Pubtator	19623656	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathy, Dilated	Cardiomyopathy	BEFREE	20448127		★☆☆☆☆ Found in Text Mining only
Cardiomyopathy, Familial Idiopathic	Cardiomyopathy	BEFREE	20448127		★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular disease	Pubtator	37166484	Associate	★☆☆☆☆ Found in Text Mining only
Celiac Disease	Celiac disease	Pubtator	28283419, 31907928, 35682780	Associate	★☆☆☆☆ Found in Text Mining only
Cerebral Infarction	Ischemic stroke	Pubtator	32746852, 36802116	Associate	★☆☆☆☆ Found in Text Mining only
cervical cancer	Cervical Cancer	BEFREE	29720427		★☆☆☆☆ Found in Text Mining only
Cervix carcinoma	Cervix carcinoma	BEFREE	29720427		★☆☆☆☆ Found in Text Mining only
Chagas Disease	Chagas disease	Pubtator	30517089	Associate	★☆☆☆☆ Found in Text Mining only
Childhood Acute Lymphoblastic Leukemia	Lymphoblastic Leukemia	BEFREE	1378163, 22368272, 23340138, 27322554, 28123588		★☆☆☆☆ Found in Text Mining only
Cholangitis Sclerosing	Sclerosing cholangitis	Pubtator	28597951	Stimulate	★☆☆☆☆ Found in Text Mining only
Chronic Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	20952689		★☆☆☆☆ Found in Text Mining only
Cleft Lip	Cleft lip	Pubtator	25139022	Associate	★☆☆☆☆ Found in Text Mining only
Cockayne Syndrome, Type I	Cockayne Syndrome	BEFREE	22872639		★☆☆☆☆ Found in Text Mining only
Cognitive Dysfunction	Cognition disorder	Pubtator	37581646	Associate	★☆☆☆☆ Found in Text Mining only
Colitis	Colitis	Pubtator	37114052	Associate	★☆☆☆☆ Found in Text Mining only
Colitis Ulcerative	Ulcerative colitis	Pubtator	24911414, 26333292, 37055495	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	23069254		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	34573368	Stimulate	★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	34573368	Associate	★☆☆☆☆ Found in Text Mining only
Complete atrioventricular block	Complete Atrioventricular Block	BEFREE	19811087, 23274669, 24773272		★☆☆☆☆ Found in Text Mining only
Complex partial seizures	Seizure	BEFREE	22872639		★☆☆☆☆ Found in Text Mining only
Coronary Aneurysm	Coronary aneurysm	Pubtator	24419807	Associate	★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	BEFREE	30123216		★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	Pubtator	30123216	Associate	★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn Disease	BEFREE	25715355		★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn disease	Pubtator	34615883, 36960063	Associate	★☆☆☆☆ Found in Text Mining only
Degenerative polyarthritis	Arthritis	BEFREE	30483789		★☆☆☆☆ Found in Text Mining only
Demyelinating Diseases	Demyelinating Diseases	BEFREE	23985573, 24337176, 28415697		★☆☆☆☆ Found in Text Mining only
Dermatitis	Dermatitis	BEFREE	30367166, 31406267		★☆☆☆☆ Found in Text Mining only
Dermatitis Atopic	Atopic dermatitis	Pubtator	33901562	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	28356069		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	28356069		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes mellitus	Pubtator	32894076	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 1	Diabetes mellitus, type 1	Pubtator	16818678, 18248531, 18563381, 24572742, 26714416, 28747257, 31110501, 31299986	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 1	Diabetes mellitus, type 1	Pubtator	24348676, 34625948	Inhibit	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 1	Diabetes mellitus, type 1	Pubtator	30723474	Stimulate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	38049854	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	BEFREE	16818678, 18563381, 19547759, 19744146, 22069271, 23454692, 24572742, 25371288, 26786322, 29484785, 30342817, 30908554, 31110501		★☆☆☆☆ Found in Text Mining only
Eczema	Eczema	GWASCAT_DG	30595370		★☆☆☆☆ Found in Text Mining only
Eczema	Eczema	HPO_DG			★☆☆☆☆ Found in Text Mining only
Endometrioma	Endometrioma	CTD_human_DG	20864642		★☆☆☆☆ Found in Text Mining only
Endometriosis	Endometriosis	CTD_human_DG	20864642		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Eosinophilia	Eosinophilia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Erectile dysfunction	Erectile Dysfunction	BEFREE	25343742		★☆☆☆☆ Found in Text Mining only
Erectile Dysfunction	Erectile dysfunction	Pubtator	25343742	Associate	★☆☆☆☆ Found in Text Mining only
Esophageal carcinoma	Esophageal Carcinoma	BEFREE	23726808		★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophagus Neoplasm	BEFREE	23726808		★☆☆☆☆ Found in Text Mining only
Exfoliative dermatitis	Exfoliative Dermatitis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Fatigue Syndrome Chronic	Fatigue syndrome	Pubtator	26881265	Inhibit	★☆☆☆☆ Found in Text Mining only
Fibrosis, Liver	Liver Fibrosis	BEFREE	29742149		★☆☆☆☆ Found in Text Mining only
Gastritis Atrophic	Gastritis	Pubtator	35905420	Associate	★☆☆☆☆ Found in Text Mining only
Giant Cell Arteritis	Giant cell arteritis	Pubtator	39817309	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	28880903		★☆☆☆☆ Found in Text Mining only
Glucocorticoid Receptor Deficiency	Glucocorticoid Receptor Deficiency	BEFREE	20459861		★☆☆☆☆ Found in Text Mining only
Glucocorticoid Receptor Deficiency	Glucocorticoid receptor deficiency/resistance	Pubtator	35734930	Associate	★☆☆☆☆ Found in Text Mining only
Graft-vs-Host Disease	Graft-Vs-Host Disease	BEFREE	29376890, 29456530		★☆☆☆☆ Found in Text Mining only
Graves Disease	Graves disease	Pubtator	27206624	Inhibit	★☆☆☆☆ Found in Text Mining only
Hashimoto Disease	Hashimoto disease	Pubtator	11045564	Associate	★☆☆☆☆ Found in Text Mining only
Hashimoto Disease	Hashimoto disease	Pubtator	27206624	Inhibit	★☆☆☆☆ Found in Text Mining only
Heart Diseases	Heart disease	Pubtator	25769928, 27322554	Associate	★☆☆☆☆ Found in Text Mining only
Heart Failure	Heart failure	Pubtator	38065888	Associate	★☆☆☆☆ Found in Text Mining only
Hematologic Neoplasms	Hematologic Neoplasms	BEFREE	23069254, 30782669		★☆☆☆☆ Found in Text Mining only
Hemihyperplasia Isolated	Hemihyperplasia	Pubtator	27910891	Stimulate	★☆☆☆☆ Found in Text Mining only
Hepatitis Autoimmune	Autoimmune hepatitis	Pubtator	28597951	Associate	★☆☆☆☆ Found in Text Mining only
Hepatitis B	Hepatitis b	Pubtator	21536738	Associate	★☆☆☆☆ Found in Text Mining only
Hepatitis C	Hepatitis c	Pubtator	27315061	Associate	★☆☆☆☆ Found in Text Mining only
Hepatitis C Chronic	Hepatitis c	Pubtator	26123260, 29742149	Associate	★☆☆☆☆ Found in Text Mining only
Hodgkin Disease	Hodgkin disease	Pubtator	21904560	Associate	★☆☆☆☆ Found in Text Mining only
Hyperglycemia	Hyperglycemia	BEFREE	23454692		★☆☆☆☆ Found in Text Mining only
Hypertension Pulmonary	Pulmonary hypertension	Pubtator	20973920	Associate	★☆☆☆☆ Found in Text Mining only
Hypothyroidism	Hypothyroidism	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypoxia	Hypoxia	Pubtator	25329529	Associate	★☆☆☆☆ Found in Text Mining only
Immune System Diseases	Immune system disease	Pubtator	9005984	Associate	★☆☆☆☆ Found in Text Mining only
Immune thrombocytopenic purpura	Immune Thrombocytopenic Purpura	HPO_DG			★☆☆☆☆ Found in Text Mining only
IMMUNODEFICIENCY 13	Immunodeficiency	BEFREE	22454463		★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory bowel disease	Pubtator	21376048, 24911414, 31618209	Associate	★☆☆☆☆ Found in Text Mining only
Inflammatory dermatosis	Dermatitis	BEFREE	30367166, 31406267		★☆☆☆☆ Found in Text Mining only
Insulin-dependent diabetes mellitus secretory diarrhea syndrome	Insulin-Dependent Diabetes Mellitus Secretory Diarrhea Syndrome	BEFREE	21802372		★☆☆☆☆ Found in Text Mining only
Ischemic stroke	Ischemic Stroke	BEFREE	30676545		★☆☆☆☆ Found in Text Mining only
Juvenile arthritis	Arthritis	BEFREE	19744146		★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney Disease	BEFREE	30454893		★☆☆☆☆ Found in Text Mining only
Leishmaniasis Cutaneous	Leishmaniasis	Pubtator	25139022	Associate	★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	BEFREE	11052810, 19349467, 21536738, 24687960, 25565005, 31530562		★☆☆☆☆ Found in Text Mining only
Leukemia	Leukemia	Pubtator	15651075, 21046101, 21536738, 30185437, 32118299, 36599086, 38251667	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	35874754, 39186002	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	23069254, 31072628		★☆☆☆☆ Found in Text Mining only
Lipoatrophy	Lipoatrophy	BEFREE	24129368		★☆☆☆☆ Found in Text Mining only
Lipodystrophy	Lipodystrophy	BEFREE	24129368		★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis	Liver cirrhosis	Pubtator	26123260, 29742149	Associate	★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis Biliary	Liver cirrhosis	Pubtator	20638239, 23000144	Associate	★☆☆☆☆ Found in Text Mining only
Liver Diseases	Liver disease	Pubtator	26123260	Associate	★☆☆☆☆ Found in Text Mining only
Lung Diseases Interstitial	Lung disease	Pubtator	35589883	Inhibit	★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	19505916, 22471460, 24678068, 24695377, 34440780	Associate	★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus Systemic	Systemic lupus erythematosus	Pubtator	18576316, 19155519, 22661557, 23264357, 27156107	Associate	★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus Systemic	Systemic lupus erythematosus	Pubtator	28747257	Stimulate	★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Discoid	Lupus Erythematosus	BEFREE	26568320		★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Systemic	Lupus Erythematosus	BEFREE	24242875, 30789153		★☆☆☆☆ Found in Text Mining only
Lupus Nephritis	Lupus nephritis	Pubtator	23264357	Associate	★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	23826668, 37169342	Associate	★☆☆☆☆ Found in Text Mining only
Lymphocytosis	Lymphocytosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	Pubtator	11045564	Associate	★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Lymphoma Follicular	Lymphoma	Pubtator	20952689, 34226281	Associate	★☆☆☆☆ Found in Text Mining only
Lymphoma, Follicular	Lymphoma	BEFREE	20952689		★☆☆☆☆ Found in Text Mining only
Lymphoma, Non-Hodgkin	Non-Hodgkin lymphoma	BEFREE	20952689		★☆☆☆☆ Found in Text Mining only
Lymphopenia	Lymphopenia	BEFREE	17201233, 21239710, 25046553		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	17546596, 28964592		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of esophagus	Esophagus Neoplasm	BEFREE	23726808		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	19136250, 19505916, 21847632, 23069254, 24678068, 30362635		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	31061414		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	23069254, 23692589, 28964592, 29749437, 31061414		★☆☆☆☆ Found in Text Mining only
Malignant Squamous Cell Neoplasm	Neoplasm	BEFREE	20110382		★☆☆☆☆ Found in Text Mining only
Malignant tumor of cervix	Cervical Tumor	BEFREE	29720427		★☆☆☆☆ Found in Text Mining only
Marginal Zone B-Cell Lymphoma	B-Cell Lymphoma	BEFREE	20952689		★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	33820810, 34159752, 36202232	Associate	★☆☆☆☆ Found in Text Mining only
Melanoma Cutaneous Malignant	Melanoma	Pubtator	35300397, 35850640, 36032150	Associate	★☆☆☆☆ Found in Text Mining only
Mesothelioma Malignant	Mesothelioma	Pubtator	36054746	Associate	★☆☆☆☆ Found in Text Mining only
Miscarriage	Miscarriage	BEFREE	26345847		★☆☆☆☆ Found in Text Mining only
Mucosa-Associated Lymphoid Tissue Lymphoma	Mucosa-associated lymphoma	BEFREE	20952689		★☆☆☆☆ Found in Text Mining only
Mucositis	Mucositis	Pubtator	31907928	Associate	★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple Sclerosis	BEFREE	12825072, 15674389, 17660530, 17660816, 17660817, 17928869, 18256983, 18354419, 18401352, 18461312, 18721276, 19221116, 19231135, 19525955, 19744146, 19834503, 20112030, 20187771, 20194581, 20226540, 20368992, 20450971, 21161391, 21190413, 21287555, 21543551, 21629267, 21716315, 22262655, 22488447, 22914435, 23351704, 23985573, 24147013, 24166352, 24337176, 24572742, 24770783, 25421942, 25637022, 25903732, 26608987, 27188999, 27456877, 28174058, 28340352, 28415697, 28446795, 28865414, 29449560, 30069682, 30443838		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Multiple Sclerosis	Multiple Sclerosis	LHGDN	17660530, 17660816, 17660817, 17928869, 18272905, 18354419, 18721276		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Multiple Sclerosis	Multiple Sclerosis	CTD_human_DG	17660530, 17660816, 17660817, 19525955		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Multiple Sclerosis	Multiple Sclerosis	GWASCAT_DG	17660530, 21833088, 24076602		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Multiple Sclerosis	Multiple Sclerosis	GWASDB_DG	17660530, 21833088		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Multiple Sclerosis	Multiple sclerosis	Pubtator	18769633, 19221116, 19304328, 20112030, 21287555, 21300823, 23985573, 24130718, 24147013, 24572742, 24770783, 26608987, 26718593, 27424664, 28340352, 28865414, 30759186, 32111053, 34584155, 36405756	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Multiple Sclerosis	Multiple sclerosis	Pubtator	26881265	Stimulate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Multiple Sclerosis Chronic Progressive	Multiple sclerosis	Pubtator	24770783	Associate	★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis, Acute Fulminating	Multiple Sclerosis	CTD_human_DG	17660530, 17660816, 17660817, 19525955		★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis, Relapsing-Remitting	Multiple Sclerosis	BEFREE	28865414		★☆☆☆☆ Found in Text Mining only
Myasthenia Gravis	Myasthenia Gravis	BEFREE	23110942		★☆☆☆☆ Found in Text Mining only
Myasthenia Gravis	Myasthenia gravis	Pubtator	23110942, 30734484	Associate	★☆☆☆☆ Found in Text Mining only
Mycosis Fungoides	Mycosis fungoides	Pubtator	34583709	Associate	★☆☆☆☆ Found in Text Mining only
Myelodysplastic Syndromes	Myelodysplastic syndrome	Pubtator	15147372	Associate	★☆☆☆☆ Found in Text Mining only
Myositis Inclusion Body	Myositis	Pubtator	24594700	Associate	★☆☆☆☆ Found in Text Mining only
Nasal Polyps	Nasal polyp	Pubtator	28474861	Inhibit	★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	21892159, 22884069, 23069254, 24097874, 24678068, 25341542, 28964592, 31522287		★☆☆☆☆ Found in Text Mining only
Nephritis	Nephritis	BEFREE	30789153		★☆☆☆☆ Found in Text Mining only
Nephrotic Syndrome	Nephrotic syndrome	Pubtator	27997540, 35734930	Associate	★☆☆☆☆ Found in Text Mining only
Nephrotic Syndrome	Nephrotic Syndrome	BEFREE	30454893		★☆☆☆☆ Found in Text Mining only
Nephrotic Syndrome	Nephrotic Syndrome	HPO_DG			★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	24097874, 31741754		★☆☆☆☆ Found in Text Mining only
Neurodegenerative Disorders	Neurodegenerative Disorders	BEFREE	29449560		★☆☆☆☆ Found in Text Mining only
Neuromyelitis Optica	Neuromyelitis Optica	BEFREE	24337176, 26608987, 30248528		★☆☆☆☆ Found in Text Mining only
Neutropenia	Neutropenia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Nevus comedonicus	Nevus comedonicus	BEFREE	30041237		★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	22884069		★☆☆☆☆ Found in Text Mining only
Obesity Morbid	Obesity	Pubtator	37266430	Associate	★☆☆☆☆ Found in Text Mining only
Omenn Syndrome	Omenn Syndrome	BEFREE	16492442, 16763459, 24759676		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Omenn Syndrome	Omenn Syndrome	GENOMICS_ENGLAND_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Omenn Syndrome	Omenn Syndrome	ORPHANET_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Omenn syndrome	Omenn Syndrome	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Oral Ulcer	Oral Ulcer	HPO_DG			★☆☆☆☆ Found in Text Mining only
Osteoarthritis	Osteoarthritis	Pubtator	30483789	Associate	★☆☆☆☆ Found in Text Mining only
Osteoarthritis Knee	Osteoarthritis	Pubtator	35016442	Associate	★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	Pubtator	37318459	Associate	★☆☆☆☆ Found in Text Mining only
Otitis Media	Otitis media	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	14504049, 35186171	Associate	★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	37381714	Associate	★☆☆☆☆ Found in Text Mining only
Papilloma	Papilloma	BEFREE	22322668		★☆☆☆☆ Found in Text Mining only
Papilloma	Papilloma	Pubtator	22322668	Associate	★☆☆☆☆ Found in Text Mining only
Porphyria Acute Intermittent	Porphyria	Pubtator	31018952	Associate	★☆☆☆☆ Found in Text Mining only
Precursor B-cell lymphoblastic leukemia	Lymphoblastic Leukemia	BEFREE	23069254, 27637012, 28424165, 31228652, 31530562		★☆☆☆☆ Found in Text Mining only
Precursor Cell Lymphoblastic Leukemia Lymphoma	Lymphoblastic Leukemia	BEFREE	22904298, 27322554		★☆☆☆☆ Found in Text Mining only
Precursor Cell Lymphoblastic Leukemia Lymphoma	Lymphoblastic Leukemia	CGI_DG			★☆☆☆☆ Found in Text Mining only
Precursor T-Cell Lymphoblastic Leukemia-Lymphoma	Lymphoblastic Leukemia	BEFREE	21892159, 24678068, 25256574, 26206799, 26341754, 28852199, 30850736, 31439943, 31530562		★☆☆☆☆ Found in Text Mining only
Precursor T-Cell Lymphoblastic Leukemia-Lymphoma	Lymphoblastic Leukemia	CTD_human_DG	21892159		★☆☆☆☆ Found in Text Mining only
Precursor T-Cell Lymphoblastic Leukemia-Lymphoma	Lymphoblastic Leukemia	CGI_DG			★☆☆☆☆ Found in Text Mining only
Primary biliary cirrhosis	Biliary Cirrhosis	CTD_human_DG	21399635		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Primary biliary cirrhosis	Biliary Cirrhosis	GWASDB_DG	21399635, 22961000		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Primary biliary cirrhosis	Biliary Cirrhosis	GWASCAT_DG	28062665		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Primary immune deficiency disorder	immunodeficiency	BEFREE	28552805		★☆☆☆☆ Found in Text Mining only
Pulmonary Disease Chronic Obstructive	Chronic obstructive pulmonary disease	Pubtator	21651772, 24430176, 36655999	Associate	★☆☆☆☆ Found in Text Mining only
Pulmonary edema of mountaineers	Pulmonary edema	Pubtator	33393628	Associate	★☆☆☆☆ Found in Text Mining only
Pulmonary Fibrosis	Pulmonary Fibrosis	BEFREE	28522286		★☆☆☆☆ Found in Text Mining only
Respiratory Distress Syndrome, Adult	Respiratory Distress Syndrome	BEFREE	28960939		★☆☆☆☆ Found in Text Mining only
Respiratory Tract Diseases	Respiratory system infectious disease	Pubtator	25329529	Associate	★☆☆☆☆ Found in Text Mining only
Respiratory Tract Diseases	Respiratory Tract Diseases	GWASCAT_DG	30595370		★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	19744146, 21129157, 26314565, 28138707, 30413189, 30483789, 31131543, 31197255		★☆☆☆☆ Found in Text Mining only
Sarcoidosis	Sarcoidosis	BEFREE	19626041		★☆☆☆☆ Found in Text Mining only
Sarcoidosis	Sarcoidosis	Pubtator	22984568	Associate	★☆☆☆☆ Found in Text Mining only
Sarcopenia	Sarcopenia	Pubtator	34371826	Associate	★☆☆☆☆ Found in Text Mining only
Schimke immunoosseous dysplasia	Spondyloepiphyseal dysplasia nephrotic syndrome	BEFREE	26499378		★☆☆☆☆ Found in Text Mining only
Scleroderma Systemic	Systemic sclerosis	Pubtator	20973920, 35663995	Associate	★☆☆☆☆ Found in Text Mining only
Secondary Biliary Cholangitis	Biliary Cholangitis	CTD_human_DG	21399635		★☆☆☆☆ Found in Text Mining only
Septicemia	Septicemia	BEFREE	31018868		★☆☆☆☆ Found in Text Mining only
Severe Combined Immunodeficiency	Severe combined immunodeficiency disease	BEFREE	11023514, 14726805, 15615257, 15661025, 17201233, 17827065, 22425228, 25046553, 25191848, 27807805, 27820135, 28552805, 29551298, 31736942, 9843216		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Severe Combined Immunodeficiency	Severe combined immunodeficiency	Pubtator	17827065, 21536738, 25046553, 27807805, 29551298, 31379863, 31736942, 33040328, 35418989, 36919728, 38082310, 38251667, 39352394	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Severe Combined Immunodeficiency	Severe combined immunodeficiency disease	GENOMICS_ENGLAND_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Severe Combined Immunodeficiency	Severe combined immunodeficiency disease	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Severe Combined Immunodeficiency	Severe combined immunodeficiency disease	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell Negative, B Cell Positive, NK Cell Positive	Combined Immunodeficiency	UNIPROT_DG	11023514, 9843216		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell Negative, B Cell Positive, NK Cell Positive	Combined Immunodeficiency	CLINVAR_DG	15661025, 16492442, 17827065, 21664875, 24759676, 25046553, 26123418, 27833609, 9843216		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell Negative, B Cell Positive, NK Cell Positive	Combined Immunodeficiency	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell Negative, B Cell Positive, NK Cell Positive	Combined Immunodeficiency	ORPHANET_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sjogren's Syndrome	Sjogren syndrome	Pubtator	29504848, 36505431	Associate	★☆☆☆☆ Found in Text Mining only
Sleep Apnea, Central	Sleep Apnea	BEFREE	22872639		★☆☆☆☆ Found in Text Mining only
Small Lymphocytic Lymphoma	Lymphocytic Leukemia	BEFREE	20952689		★☆☆☆☆ Found in Text Mining only
Spondylarthritis	Spondyloarthritis	BEFREE	30413189		★☆☆☆☆ Found in Text Mining only
Spondylitis Ankylosing	Ankylosing spondylitis	Pubtator	31594933	Associate	★☆☆☆☆ Found in Text Mining only
Spondylitis Ankylosing	Ankylosing spondylitis	Pubtator	39185422	Stimulate	★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	BEFREE	20110382		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of esophagus	Esophagus Neoplasm	BEFREE	29749437		★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	23826668	Associate	★☆☆☆☆ Found in Text Mining only
Stable angina	Stable Angina	BEFREE	22872639		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	18687755, 36735714	Associate	★☆☆☆☆ Found in Text Mining only
Systemic Scleroderma	Scleroderma	BEFREE	28522286		★☆☆☆☆ Found in Text Mining only
T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency	Interleukin-7 Receptor Alpha Deficiency	Orphanet			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
T-Cell Lymphoma	T-Cell Lymphoma	BEFREE	20952689		★☆☆☆☆ Found in Text Mining only
Thrombocytopenia	Thrombocytopenia	Pubtator	31736942	Associate	★☆☆☆☆ Found in Text Mining only
Thyroid associated opthalmopathies	Thyroid eye disease	BEFREE	28222462		★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasms	Thyroid cancer	Pubtator	32812852	Associate	★☆☆☆☆ Found in Text Mining only
Thyroiditis	Thyroiditis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Thyroiditis Autoimmune	Thyroiditis	Pubtator	27206624	Associate	★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple negative breast cancer	Pubtator	37441083	Associate	★☆☆☆☆ Found in Text Mining only
Ulcerative Colitis	Ulcerative colitis	GWASCAT_DG	21297633		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ulcerative Colitis	Ulcerative colitis	CTD_human_DG	21297633		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ulcerative Colitis	Ulcerative colitis	GWASDB_DG	21297633		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ulcerative Colitis	Ulcerative colitis	BEFREE	26333292, 26730791		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	23587428	Associate	★☆☆☆☆ Found in Text Mining only
Van der Woude syndrome	Van Der Woude Syndrome	BEFREE	24723426		★☆☆☆☆ Found in Text Mining only
Vasculitis	Vasculitis	Pubtator	39817309	Associate	★☆☆☆☆ Found in Text Mining only
Vitamin D Deficiency	Vitamin d deficiency	Pubtator	32111053	Associate	★☆☆☆☆ Found in Text Mining only
X-Linked Combined Immunodeficiency Diseases	Combined Immunodeficiency, X-Linked	BEFREE	9005984, 9843216		★☆☆☆☆ Found in Text Mining only
X-Linked Lymphoproliferative Disorder	Lymphoproliferative Syndrome, X-Linked	BEFREE	19576857		★☆☆☆☆ Found in Text Mining only