IFNGR1 (interferon gamma receptor 1)

Gene

• Entrez ID: 3459
• Gene name: Interferon gamma receptor 1
• Gene symbol: IFNGR1
• Synonyms (NCBI Gene): CD119, IFNGR, IMD27A, IMD27B
• Chromosome: 6
• Chromosome location: 6q23.3
• Summary: This gene (IFNGR1) encodes the ligand-binding chain (alpha) of the gamma interferon receptor. Human interferon-gamma receptor is a heterodimer of IFNGR1 and IFNGR2. A genetic variation in IFNGR1 is associated with susceptibility to Helicobacter pylori inf

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs104893973	A>G	Risk-factor, pathogenic	Coding sequence variant, missense variant
rs104893974	C>T	Pathogenic	Coding sequence variant, missense variant
rs121912715	A>C,G,T	Pathogenic	Missense variant, coding sequence variant
rs193922451	C>A	Likely-pathogenic	Splice acceptor variant
rs387906572	G>A,T	Pathogenic	Missense variant, coding sequence variant, stop gained
rs387906593	A>C,T	Pathogenic	Genic upstream transcript variant, initiator codon variant, 5 prime UTR variant, missense variant, upstream transcript variant
rs587776853	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs587776854	->GTAA	Pathogenic	5 prime UTR variant, frameshift variant, coding sequence variant
rs587776855	C>T	Pathogenic	Splice donor variant
rs587776856	AATT>-	Pathogenic	Frameshift variant, coding sequence variant
rs587776857	CTCTGACCCAAA>-	Pathogenic	Inframe deletion, coding sequence variant
rs587776859	A>-	Pathogenic	Frameshift variant, coding sequence variant
rs587776860	A>-	Pathogenic	Frameshift variant, coding sequence variant
rs749956849	A>-	Pathogenic	Coding sequence variant, frameshift variant
rs753213766	GGCACTGTA>-	Pathogenic	Intron variant, 5 prime UTR variant, coding sequence variant, splice acceptor variant
rs1236009877	T>A	Likely-pathogenic	Intron variant
rs1554227230	A>G	Likely-pathogenic	Splice donor variant
rs1582634064	C>A	Likely-pathogenic	Splice donor variant
rs1582634237	ACAC>GG	Pathogenic	Coding sequence variant, frameshift variant
rs1582635229	A>-	Pathogenic	Coding sequence variant, frameshift variant
rs1582637044	A>G	Likely-pathogenic	Missense variant, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT005032	hsa-miR-155-5p	Flow, Luciferase reporter assay, Northern blot	19877012
MIRT027722	hsa-miR-98-5p	Microarray	19088304
MIRT048216	hsa-miR-196a-5p	CLASH	23622248
MIRT047257	hsa-miR-181b-5p	CLASH	23622248
MIRT544315	hsa-miR-548az-5p	PAR-CLIP	20371350
MIRT544314	hsa-miR-548t-5p	PAR-CLIP	20371350
MIRT544313	hsa-miR-3609	PAR-CLIP	20371350
MIRT544312	hsa-miR-548ah-5p	PAR-CLIP	20371350
MIRT516458	hsa-miR-3714	PAR-CLIP	20371350
MIRT516457	hsa-miR-1910-3p	PAR-CLIP	20371350
MIRT516456	hsa-miR-6511a-5p	PAR-CLIP	20371350
MIRT516455	hsa-miR-3919	PAR-CLIP	20371350
MIRT516453	hsa-miR-4795-5p	PAR-CLIP	20371350
MIRT516452	hsa-miR-187-5p	PAR-CLIP	20371350
MIRT516451	hsa-miR-3616-5p	PAR-CLIP	20371350
MIRT516450	hsa-miR-573	PAR-CLIP	20371350
MIRT544315	hsa-miR-548az-5p	PAR-CLIP	21572407
MIRT544314	hsa-miR-548t-5p	PAR-CLIP	21572407
MIRT544313	hsa-miR-3609	PAR-CLIP	21572407
MIRT544312	hsa-miR-548ah-5p	PAR-CLIP	21572407
MIRT516458	hsa-miR-3714	PAR-CLIP	21572407
MIRT516457	hsa-miR-1910-3p	PAR-CLIP	21572407
MIRT516456	hsa-miR-6511a-5p	PAR-CLIP	21572407
MIRT516455	hsa-miR-3919	PAR-CLIP	21572407
MIRT516458	hsa-miR-3714	PAR-CLIP	23446348
MIRT516457	hsa-miR-1910-3p	PAR-CLIP	23446348
MIRT516456	hsa-miR-6511a-5p	PAR-CLIP	23446348
MIRT516455	hsa-miR-3919	PAR-CLIP	23446348
MIRT516454	hsa-miR-1283	PAR-CLIP	23446348
MIRT516453	hsa-miR-4795-5p	PAR-CLIP	23446348
MIRT516452	hsa-miR-187-5p	PAR-CLIP	23446348
MIRT516451	hsa-miR-3616-5p	PAR-CLIP	23446348
MIRT516450	hsa-miR-573	PAR-CLIP	23446348
MIRT544315	hsa-miR-548az-5p	PAR-CLIP	20371350
MIRT544314	hsa-miR-548t-5p	PAR-CLIP	20371350
MIRT544313	hsa-miR-3609	PAR-CLIP	20371350
MIRT544312	hsa-miR-548ah-5p	PAR-CLIP	20371350
MIRT516458	hsa-miR-3714	PAR-CLIP	20371350
MIRT516457	hsa-miR-1910-3p	PAR-CLIP	20371350
MIRT516456	hsa-miR-6511a-5p	PAR-CLIP	20371350
MIRT516455	hsa-miR-3919	PAR-CLIP	20371350
MIRT516453	hsa-miR-4795-5p	PAR-CLIP	20371350
MIRT516452	hsa-miR-187-5p	PAR-CLIP	20371350
MIRT516451	hsa-miR-3616-5p	PAR-CLIP	20371350
MIRT516450	hsa-miR-573	PAR-CLIP	20371350
MIRT544315	hsa-miR-548az-5p	PAR-CLIP	21572407
MIRT544314	hsa-miR-548t-5p	PAR-CLIP	21572407
MIRT544313	hsa-miR-3609	PAR-CLIP	21572407
MIRT544312	hsa-miR-548ah-5p	PAR-CLIP	21572407
MIRT516458	hsa-miR-3714	PAR-CLIP	21572407
MIRT516457	hsa-miR-1910-3p	PAR-CLIP	21572407
MIRT516456	hsa-miR-6511a-5p	PAR-CLIP	21572407
MIRT516455	hsa-miR-3919	PAR-CLIP	21572407
MIRT516458	hsa-miR-3714	PAR-CLIP	23446348
MIRT516457	hsa-miR-1910-3p	PAR-CLIP	23446348
MIRT516456	hsa-miR-6511a-5p	PAR-CLIP	23446348
MIRT516455	hsa-miR-3919	PAR-CLIP	23446348
MIRT516454	hsa-miR-1283	PAR-CLIP	23446348
MIRT516453	hsa-miR-4795-5p	PAR-CLIP	23446348
MIRT516452	hsa-miR-187-5p	PAR-CLIP	23446348
MIRT516451	hsa-miR-3616-5p	PAR-CLIP	23446348
MIRT516450	hsa-miR-573	PAR-CLIP	23446348
MIRT1060893	hsa-miR-520d-5p	CLIP-seq
MIRT1060894	hsa-miR-524-5p	CLIP-seq
MIRT1060895	hsa-miR-586	CLIP-seq
MIRT2014219	hsa-miR-198	CLIP-seq
MIRT2014220	hsa-miR-548a-3p	CLIP-seq
MIRT2014221	hsa-miR-548e	CLIP-seq
MIRT2014222	hsa-miR-548f	CLIP-seq
MIRT2014223	hsa-miR-548g	CLIP-seq
MIRT2014224	hsa-miR-665	CLIP-seq
MIRT2246420	hsa-miR-3064-3p	CLIP-seq
MIRT2246421	hsa-miR-3647-3p	CLIP-seq
MIRT2246422	hsa-miR-548ah	CLIP-seq
MIRT2246423	hsa-miR-548t	CLIP-seq
MIRT2014219	hsa-miR-198	CLIP-seq
MIRT2549923	hsa-miR-3146	CLIP-seq
MIRT2549924	hsa-miR-3973	CLIP-seq
MIRT2549925	hsa-miR-4251	CLIP-seq
MIRT2549926	hsa-miR-4303	CLIP-seq
MIRT2549927	hsa-miR-4329	CLIP-seq
MIRT2549928	hsa-miR-433	CLIP-seq
MIRT2549929	hsa-miR-4422	CLIP-seq
MIRT2549930	hsa-miR-4494	CLIP-seq
MIRT2549931	hsa-miR-4662a-3p	CLIP-seq
MIRT2549932	hsa-miR-4666-3p	CLIP-seq
MIRT2549933	hsa-miR-4762-3p	CLIP-seq
MIRT2549934	hsa-miR-499a-5p	CLIP-seq
MIRT1060893	hsa-miR-520d-5p	CLIP-seq
MIRT2549935	hsa-miR-520g	CLIP-seq
MIRT2549936	hsa-miR-520h	CLIP-seq
MIRT1060894	hsa-miR-524-5p	CLIP-seq
MIRT2014220	hsa-miR-548a-3p	CLIP-seq
MIRT2246422	hsa-miR-548ah	CLIP-seq
MIRT2014221	hsa-miR-548e	CLIP-seq
MIRT2014222	hsa-miR-548f	CLIP-seq
MIRT2014223	hsa-miR-548g	CLIP-seq
MIRT2246423	hsa-miR-548t	CLIP-seq
MIRT2014224	hsa-miR-665	CLIP-seq
MIRT2549937	hsa-miR-891b	CLIP-seq
MIRT2014219	hsa-miR-198	CLIP-seq
MIRT2549923	hsa-miR-3146	CLIP-seq
MIRT2682637	hsa-miR-3647-5p	CLIP-seq
MIRT2549924	hsa-miR-3973	CLIP-seq
MIRT2549925	hsa-miR-4251	CLIP-seq
MIRT2549926	hsa-miR-4303	CLIP-seq
MIRT2549927	hsa-miR-4329	CLIP-seq
MIRT2549928	hsa-miR-433	CLIP-seq
MIRT2549929	hsa-miR-4422	CLIP-seq
MIRT2549930	hsa-miR-4494	CLIP-seq
MIRT2549931	hsa-miR-4662a-3p	CLIP-seq
MIRT2549932	hsa-miR-4666-3p	CLIP-seq
MIRT2549933	hsa-miR-4762-3p	CLIP-seq
MIRT2549934	hsa-miR-499a-5p	CLIP-seq
MIRT1060893	hsa-miR-520d-5p	CLIP-seq
MIRT2549935	hsa-miR-520g	CLIP-seq
MIRT2549936	hsa-miR-520h	CLIP-seq
MIRT1060894	hsa-miR-524-5p	CLIP-seq
MIRT2014220	hsa-miR-548a-3p	CLIP-seq
MIRT2246422	hsa-miR-548ah	CLIP-seq
MIRT2014221	hsa-miR-548e	CLIP-seq
MIRT2014222	hsa-miR-548f	CLIP-seq
MIRT2014223	hsa-miR-548g	CLIP-seq
MIRT2246423	hsa-miR-548t	CLIP-seq
MIRT2014224	hsa-miR-665	CLIP-seq
MIRT2549937	hsa-miR-891b	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
IRF2	Repression	18281489
SP1	Unknown	11477089

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001774	Process	Microglial cell activation	IEA
GO:0001774	Process	Microglial cell activation	ISS
GO:0002376	Process	Immune system process	IEA
GO:0004896	Function	Cytokine receptor activity	IBA
GO:0004896	Function	Cytokine receptor activity	IEA
GO:0004906	Function	Type II interferon receptor activity	IDA	20015550
GO:0004906	Function	Type II interferon receptor activity	TAS	2971451
GO:0005515	Function	Protein binding	IPI	7617032, 8156998, 8662591, 11250200, 15780933, 28514442, 32296183, 33961781
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IDA	20015550
GO:0005886	Component	Plasma membrane	IDA
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS	2971451
GO:0007165	Process	Signal transduction	TAS	2971451
GO:0007259	Process	Cell surface receptor signaling pathway via JAK-STAT	IDA	22002246
GO:0009615	Process	Response to virus	IEA
GO:0009615	Process	Response to virus	TAS	2954953
GO:0010628	Process	Positive regulation of gene expression	IEA
GO:0010628	Process	Positive regulation of gene expression	ISS
GO:0016020	Component	Membrane	IDA	28883123
GO:0016020	Component	Membrane	IEA
GO:0019221	Process	Cytokine-mediated signaling pathway	IBA
GO:0019955	Function	Cytokine binding	IEA
GO:0032760	Process	Positive regulation of tumor necrosis factor production	IEA
GO:0032760	Process	Positive regulation of tumor necrosis factor production	ISS
GO:0038196	Process	Type III interferon-mediated signaling pathway	IDA	20015550
GO:0048143	Process	Astrocyte activation	IEA
GO:0048143	Process	Astrocyte activation	ISS
GO:0051607	Process	Defense response to virus	IEA
GO:0060333	Process	Type II interferon-mediated signaling pathway	IDA	28883123
GO:0060333	Process	Type II interferon-mediated signaling pathway	IEA
GO:0060333	Process	Type II interferon-mediated signaling pathway	NAS	15864272
GO:0098542	Process	Defense response to other organism	IEA
GO:0098586	Process	Cellular response to virus	NAS	15864272
GO:1900222	Process	Negative regulation of amyloid-beta clearance	IEA
GO:1900222	Process	Negative regulation of amyloid-beta clearance	ISS
GO:1902004	Process	Positive regulation of amyloid-beta formation	IEA
GO:1902004	Process	Positive regulation of amyloid-beta formation	ISS

Other IDs

• MIM: 107470
• HGNC: 5439
• e!Ensembl: ENSG00000027697

Protein

• UniProt ID: P15260
• Protein name: Interferon gamma receptor 1 (IFN-gamma receptor 1) (IFN-gamma-R1) (CDw119) (Interferon gamma receptor alpha-chain) (IFN-gamma-R-alpha) (CD antigen CD119)
• Protein function: Receptor subunit for interferon gamma/INFG that plays crucial roles in antimicrobial, antiviral, and antitumor responses by activating effector immune cells and enhancing antigen presentation (PubMed:20015550). Associates with transmembrane acce
• PDB: 1FG9, 1FYH, 1JRH, 6E3K, 6E3L
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF01108	Tissue_fac	2 → 113	Tissue factor	Family
  PF07140	IFNGR1	161 → 324	Interferon gamma receptor (IFNGR1)	Family

• Sequence:

  MALLFLLPLVMQGVSRAEMGTADLGPSSVPTPTNVTIESYNMNPIVYWEYQIMPQVPVFT
  VEVKNYGVKNSEWIDACINISHHYCNISDHVGDPSNSLWVRVKARVGQKESAYAKSEEFA
  VCRDGKIGPPKLDIRKEEKQIMIDIFHPSVFVNGDEQEVDYDPETTCYIRVYNVYVRMNG
  SEIQYKILTQKEDDCDEIQCQLAIPVSSLNSQYCVSAEGVLHVWGVTTEKSKEVCITIFN
  SSIKGSLWIPVVAALLLFLVLSLVFICFYIKKINPLKEKSIILPKSLISVVRSATLETKP
  ESKYVSLITSYQPFSLEKEVVCEEPLSPATVPGMHTEDNPGKVEHTEELSSITEVVTTEE
  NIPDVVPGSHLTPIERESSSPLSSNQSEPGSIALNSYHSRNCSESDHSRNGFDTDSSCLE
  SHSSLSDSEFPPNNKGEIKTEGQELITVIKAPTSFGYDKPHVLVDLLVDDSGKESLIGYR
  PTEDSKEFS

• Sequence length: 489

Pathways

KEGG:

Cytokine-cytokine receptor interaction
HIF-1 signaling pathway
Necroptosis
Osteoclast differentiation
JAK-STAT signaling pathway
Natural killer cell mediated cytotoxicity
Th1 and Th2 cell differentiation
Th17 cell differentiation
Leishmaniasis
Chagas disease
Toxoplasmosis
Tuberculosis
Influenza A
Kaposi sarcoma-associated herpesvirus infection
Herpes simplex virus 1 infection
Pathways in cancer
PD-L1 expression and PD-1 checkpoint pathway in cancer
Inflammatory bowel disease

Reactome:

Interferon gamma signaling
Regulation of IFNG signaling

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
Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency	Pathogenic	rs587776856, rs587776859, rs587776860	RCV000019543 RCV000019548 RCV000019552	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Disseminated atypical mycobacterial infection	Pathogenic; Likely pathogenic	rs532749039, rs2114462360, rs2114462231, rs369389737, rs749956849, rs2548232789, rs1160070099, rs193922451, rs104893973, rs587776856, rs1554227230, rs1582634237, rs1779262959	RCV003597211 RCV001941719 RCV001993343 RCV001976928 RCV002229015 RCV002999245 RCV003596853 RCV003763373 RCV001851953 RCV002228042 RCV001852595 RCV002231375 RCV002537280 RCV002241215	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Helicobacter pylori infection, susceptibility to	Pathogenic	rs587776856	RCV002476992	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hepatitis B virus, susceptibility to	Pathogenic	rs587776856	RCV002476992	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
IFN-gamma receptor 1 deficiency	Pathogenic	rs587776856	RCV000588728	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Immunodeficiency 27A	Pathogenic; Likely pathogenic	rs749956849, rs2548247291, rs387906572, rs587776853, rs104893973, rs587776854, rs587776855, rs587776856, rs587776857, rs104893974, rs121912715, rs387906593, rs1236009877, rs753213766, rs1582635229, rs1582637044	RCV000190596 RCV003338155 RCV000019537 RCV000019538 RCV000019539 RCV000019541 RCV000019542 RCV002476992 RCV000019544 RCV000019545 RCV000019546 RCV000022447 RCV000987792 RCV000987794 RCV001030048 RCV001030047	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Inherited Immunodeficiency Diseases	Pathogenic	rs749956849	RCV001027575	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Interferon gamma receptor deficiency	Likely pathogenic	rs193922451	RCV000030042	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Mycobacterium tuberculosis, susceptibility to	Likely pathogenic; Pathogenic	rs104893973, rs587776856	RCV000144034 RCV002476992	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Acute myeloid leukemia	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ASTHMA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Behcet disease	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BEHCET SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BEHCET'S SYNDROME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLOR VISION DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLORECTAL CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ENDOMETRIOSIS	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEPATITIS B	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTENSION	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
IFNGR1-related disorder	Likely benign; Benign; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
IMMUNODEFICIENCY 27B	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LIVER CIRRHOSIS, EXPERIMENTAL	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
METABOLIC SYNDROME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mycobacterium tuberculosis, protection against	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYOCARDIAL ISCHEMIA	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TUBERCULOMA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Adenocarcinoma	Adenocarcinoma	BEFREE	27286456		★☆☆☆☆ Found in Text Mining only
Agammaglobulinemia	Agammaglobulinemia	BEFREE	15604887		★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis	Amyotrophic Lateral Sclerosis	BEFREE	30457201		★☆☆☆☆ Found in Text Mining only
Anemia	Anemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Anhydrotic Ectodermal Dysplasias	Hypohidrotic ectodermal dysplasia	BEFREE	15604887		★☆☆☆☆ Found in Text Mining only
Anorexia	Anorexia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	25708927	Associate	★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	Pubtator	24475887	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
B-Cell Lymphomas	B-Cell Lymphoma	BEFREE	23800860		★☆☆☆☆ Found in Text Mining only
Barrett Esophagus	Barrett esophagus	Pubtator	35328735	Associate	★☆☆☆☆ Found in Text Mining only
Behcet Syndrome	Behcet disease	Pubtator	29534057	Stimulate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Behcet Syndrome	Behcet disease	Pubtator	33393726	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Blindness	Blindness	Pubtator	26931784	Inhibit	★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	22182699		★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	24453034	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	33667716	Associate	★☆☆☆☆ Found in Text Mining only
Cartilage Diseases	Cartilage disease	Pubtator	19285161	Associate	★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	BEFREE	17251453		★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	LHGDN	17251453		★☆☆☆☆ Found in Text Mining only
Christ-Siemens-Touraine syndrome	Hypohidrotic Ectodermal Dysplasia, X-Linked	BEFREE	15604887		★☆☆☆☆ Found in Text Mining only
Chronic Lymphocytic Leukemia	Lymphocytic Leukemia	LHGDN	12454749		★☆☆☆☆ Found in Text Mining only
Chronic recurrent multifocal osteomyelitis	Recurrent multifocal osteomyelitis	Pubtator	23585529	Associate	★☆☆☆☆ Found in Text Mining only
Cleft Palate	Cleft palate	Pubtator	34646402	Associate	★☆☆☆☆ Found in Text Mining only
Colitis	Colitis	BEFREE	27751819		★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	21859832		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	25350395, 25383957, 29408916		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	21859832, 25350395, 29408916	Associate	★☆☆☆☆ Found in Text Mining only
Complete atrioventricular block	Complete Atrioventricular Block	BEFREE	25196343		★☆☆☆☆ Found in Text Mining only
Conjunctivitis	Conjunctivitis	BEFREE	21749458		★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn Disease	BEFREE	28139755		★☆☆☆☆ Found in Text Mining only
Cystic Fibrosis	Cystic Fibrosis	BEFREE	21731057		★☆☆☆☆ Found in Text Mining only
Cystic Fibrosis	Cystic fibrosis	Pubtator	21731057	Associate	★☆☆☆☆ Found in Text Mining only
Cystitis Interstitial	Interstitial cystitis	Pubtator	36045687	Associate	★☆☆☆☆ Found in Text Mining only
Depressive Disorder	Major depressive disorder	Pubtator	24726621	Associate	★☆☆☆☆ Found in Text Mining only
Dermatitis Atopic	Atopic dermatitis	Pubtator	26343451	Associate	★☆☆☆☆ Found in Text Mining only
Dermatitis, Atopic	Dermatitis	BEFREE	17251453, 21749458, 26343451		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 1	Diabetes mellitus, type 1	Pubtator	22344559	Associate	★☆☆☆☆ Found in Text Mining only
Eclampsia	Eclampsia	BEFREE	20070287		★☆☆☆☆ Found in Text Mining only
Eczema	Eczema	BEFREE	17251453, 26343451		★☆☆☆☆ Found in Text Mining only
Endometrioma	Endometrioma	CTD_human_DG	21063030		★☆☆☆☆ Found in Text Mining only
Endometriosis	Endometriosis	CTD_human_DG	21063030		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Eosinophilia	Eosinophilia	BEFREE	8728018		★☆☆☆☆ Found in Text Mining only
Esophageal carcinoma	Esophageal Carcinoma	BEFREE	18281489		★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophagus Neoplasm	BEFREE	18281489		★☆☆☆☆ Found in Text Mining only
Esophageal Squamous Cell Carcinoma	Esophageal squamous cell carcinoma	Pubtator	34148879	Associate	★☆☆☆☆ Found in Text Mining only
Gastritis, Atrophic	Gastritis	BEFREE	18287876		★☆☆☆☆ Found in Text Mining only
Generalized enlarged lymph nodes	Enlarged Lymph Nodes	HPO_DG			★☆☆☆☆ Found in Text Mining only
Giant Cell Arteritis	Giant Cell Arteritis	BEFREE	20412699		★☆☆☆☆ Found in Text Mining only
Giant Cell Arteritis	Giant cell arteritis	Pubtator	36533991	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	37158962	Associate	★☆☆☆☆ Found in Text Mining only
Graves Disease	Graves disease	Pubtator	35720300	Associate	★☆☆☆☆ Found in Text Mining only
Hepatitis C	Hepatitis c	Pubtator	25265476	Inhibit	★☆☆☆☆ Found in Text Mining only
Histiocytosis	Histiocytosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Histiocytosis, Langerhans-Cell	Histiocytosis	BEFREE	24254535		★☆☆☆☆ Found in Text Mining only
Hypergammaglobulinemia	Hypergammaglobulinemia	BEFREE	26162572		★☆☆☆☆ Found in Text Mining only
Hypergammaglobulinemia	Hypergammaglobulinemia	Pubtator	26162572	Associate	★☆☆☆☆ Found in Text Mining only
Hyperinsulinism	Hyperinsulinism	BEFREE	29874587		★☆☆☆☆ Found in Text Mining only
Hypoalbuminemia	Hypoalbuminemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
IFN-gamma Receptor 1 Deficiency	IFN-Gamma Receptor 1 Deficiency	CLINVAR_DG	10192386, 11583830, 18171304, 20015550		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
IFN-gamma Receptor 1 Deficiency	IFN-Gamma Receptor 1 Deficiency	BEFREE	23036270, 24254535		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
IMMUNODEFICIENCY 27A	Immunodeficiency	UNIPROT_DG	10811850, 11139207, 15589309, 16195661, 16715106, 17514500, 20015550, 20186794, 22708048, 25592983, 27868075, 28744922, 9389728		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
IMMUNODEFICIENCY 27A	Immunodeficiency	CLINVAR_DG	12712974, 15589309, 19880337		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
IMMUNODEFICIENCY 27A	Immunodeficiency	GENOMICS_ENGLAND_DG	9497247		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
IMMUNODEFICIENCY 27B	Immunodeficiency	GENOMICS_ENGLAND_DG	9497247		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
IMMUNODEFICIENCY 27B	Immunodeficiency	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
IMMUNODEFICIENCY 27B	Immunodeficiency	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
IMMUNODEFICIENCY 27B	Immunodeficiency	ORPHANET_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
IMMUNODEFICIENCY 30	Immunodeficiency	BEFREE	31367980		★☆☆☆☆ Found in Text Mining only
Immunologic Deficiency Syndromes	Immunologic Deficiency Syndromes	HPO_DG			★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory Bowel Disease	BEFREE	10207725, 28139755		★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory bowel disease	Pubtator	35653895, 36643579	Associate	★☆☆☆☆ Found in Text Mining only
Interferon gamma receptor deficiency	Interferon Gamma Receptor Deficiency	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Interferon gamma, receptor 1, deficiency	Interferon Gamma Receptor Deficiency	ORPHANET_DG			★☆☆☆☆ Found in Text Mining only
Leprosy	Leprosy	Pubtator	21460021	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia	Leukemia	Pubtator	37610672	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	26246143, 33356802	Associate	★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis	Liver cirrhosis	Pubtator	10441577	Associate	★☆☆☆☆ Found in Text Mining only
Liver Diseases	Liver disease	Pubtator	25265476	Associate	★☆☆☆☆ Found in Text Mining only
Lung diseases	Lung Diseases	BEFREE	16682253, 17023216		★☆☆☆☆ Found in Text Mining only
Lung Diseases	Lung disease	Pubtator	28719321	Associate	★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus Systemic	Systemic lupus erythematosus	Pubtator	10403400, 31090539	Associate	★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Systemic	Lupus Erythematosus	BEFREE	10079289, 10403400, 17618444		★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Systemic	Lupus Erythematosus	LHGDN	17618444		★☆☆☆☆ Found in Text Mining only
Lupus Nephritis	Lupus nephritis	Pubtator	39224582	Associate	★☆☆☆☆ Found in Text Mining only
Lymphadenitis	Lymphadenitis	BEFREE	24509072		★☆☆☆☆ Found in Text Mining only
Lymphohistiocytosis, Hemophagocytic	Lymphohistiocytosis	BEFREE	28516082		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	22182699		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of esophagus	Esophagus Neoplasm	BEFREE	18281489		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	24953652		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	25383957		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	21859832		★☆☆☆☆ Found in Text Mining only
Microvascular Angina	Microvascular Angina	LHGDN	17546485		★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	Pubtator	17300840	Associate	★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple Sclerosis	BEFREE	15182327		★☆☆☆☆ Found in Text Mining only
Myasthenia Gravis	Myasthenia Gravis	BEFREE	29441481		★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial infarction	Pubtator	39261934	Associate	★☆☆☆☆ Found in Text Mining only
Myocardial Ischemia	Myocardial Ischemia	CTD_human_DG	16214533		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myocarditis	Myocarditis	LHGDN	19172849		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	26987263, 27286456, 27864228, 30518683		★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	29946223		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	29874587		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	33315090	Associate	★☆☆☆☆ Found in Text Mining only
Oral Ulcer	Oral Ulcer	GWASCAT_DG	30837455		★☆☆☆☆ Found in Text Mining only
Osteomyelitis	Osteomyelitis	Pubtator	11139207, 27356097	Associate	★☆☆☆☆ Found in Text Mining only
Osteomyelitis	Osteomyelitis	BEFREE	11865431, 21464185, 23585529, 24509072, 27356097, 28516082		★☆☆☆☆ Found in Text Mining only
Osteomyelitis	Osteomyelitis	LHGDN	11865431		★☆☆☆☆ Found in Text Mining only
Osteomyelitis	Osteomyelitis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	Pubtator	18197754	Associate	★☆☆☆☆ Found in Text Mining only
Periodontal Diseases	Periodontal disease	Pubtator	22995210	Associate	★☆☆☆☆ Found in Text Mining only
Periodontitis	Periodontitis	BEFREE	14763782		★☆☆☆☆ Found in Text Mining only
Primary immune deficiency disorder	immunodeficiency	BEFREE	26931784, 28744922		★☆☆☆☆ Found in Text Mining only
Pulmonary Arterial Hypertension	Pulmonary arterial hypertension	Pubtator	20808962	Stimulate	★☆☆☆☆ Found in Text Mining only
Pulmonary Arterial Hypertension	Pulmonary arterial hypertension	Pubtator	33539912	Associate	★☆☆☆☆ Found in Text Mining only
Rectal Carcinoma	Rectal Carcinoma	BEFREE	21859832		★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	16563189, 25708927		★☆☆☆☆ Found in Text Mining only
Rhinitis	Rhinitis	BEFREE	21749458		★☆☆☆☆ Found in Text Mining only
Seizures	Seizures	Pubtator	38166692	Associate	★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	18593809		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	24453034	Associate	★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	30873760	Stimulate	★☆☆☆☆ Found in Text Mining only
Supranuclear Palsy Progressive	Progressive supranuclear palsy	Pubtator	33635380	Associate	★☆☆☆☆ Found in Text Mining only
SYNOVITIS, GRANULOMATOUS, WITH UVEITIS AND CRANIAL NEUROPATHIES (disorder)	Arthrocutaneouveal granulomatosis	BEFREE	31760574		★☆☆☆☆ Found in Text Mining only
Thrombocytosis	Thrombocytosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Thyroiditis Autoimmune	Thyroiditis	Pubtator	25127106	Associate	★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple negative breast cancer	Pubtator	32923150	Associate	★☆☆☆☆ Found in Text Mining only
Ulcerative Colitis	Ulcerative colitis	BEFREE	28139755		★☆☆☆☆ Found in Text Mining only
Vasculitis	Vasculitis	Pubtator	36797040	Associate	★☆☆☆☆ Found in Text Mining only