IFNGR2 (interferon gamma receptor 2)

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Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases Related genes Diseases linked via similar genes

Gene

• Entrez ID: 3460
• Gene name: Interferon gamma receptor 2
• Gene symbol: IFNGR2
• Synonyms (NCBI Gene): AF-1, IFGR2, IFNGT1, IMD28
• Chromosome: 21
• Chromosome location: 21q22.11
• Summary: This gene (IFNGR2) encodes the non-ligand-binding beta chain of the gamma interferon receptor. Human interferon-gamma receptor is a heterodimer of IFNGR1 and IFNGR2. Defects in IFNGR2 are a cause of mendelian susceptibility to mycobacterial disease (MSMD)

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs74315444	C>A	Pathogenic	Missense variant, coding sequence variant
rs398122890	->ACAATG	Pathogenic	Inframe insertion, coding sequence variant
rs587776822	AG>-	Pathogenic	Frameshift variant, coding sequence variant

miRNA Show/Hide all (64)

miRTarBase ID	miRNA	Experiments	Reference
MIRT027145	hsa-miR-103a-3p	Sequencing	20371350
MIRT030035	hsa-miR-26b-5p	Microarray	19088304
MIRT046534	hsa-miR-15b-5p	CLASH	23622248
MIRT036154	hsa-miR-1296-5p	CLASH	23622248
MIRT711317	hsa-miR-654-3p	HITS-CLIP	19536157
MIRT711316	hsa-miR-370-3p	HITS-CLIP	19536157
MIRT711315	hsa-miR-6893-3p	HITS-CLIP	19536157
MIRT711314	hsa-miR-4786-5p	HITS-CLIP	19536157
MIRT711313	hsa-miR-769-5p	HITS-CLIP	19536157
MIRT711312	hsa-miR-626	HITS-CLIP	19536157
MIRT711311	hsa-miR-6876-3p	HITS-CLIP	19536157
MIRT711310	hsa-miR-6895-3p	HITS-CLIP	19536157
MIRT298242	hsa-miR-593-3p	HITS-CLIP	19536157
MIRT711309	hsa-miR-346	HITS-CLIP	19536157
MIRT711308	hsa-miR-6818-3p	HITS-CLIP	19536157
MIRT711307	hsa-miR-4288	HITS-CLIP	19536157
MIRT711306	hsa-miR-632	HITS-CLIP	19536157
MIRT531220	hsa-miR-7151-5p	PAR-CLIP	22012620
MIRT531219	hsa-miR-4275	PAR-CLIP	22012620
MIRT531218	hsa-miR-4666a-5p	PAR-CLIP	22012620
MIRT531217	hsa-miR-4639-5p	PAR-CLIP	22012620
MIRT531216	hsa-miR-6885-3p	PAR-CLIP	22012620
MIRT711317	hsa-miR-654-3p	HITS-CLIP	19536157
MIRT711316	hsa-miR-370-3p	HITS-CLIP	19536157
MIRT711315	hsa-miR-6893-3p	HITS-CLIP	19536157
MIRT711314	hsa-miR-4786-5p	HITS-CLIP	19536157
MIRT711313	hsa-miR-769-5p	HITS-CLIP	19536157
MIRT711312	hsa-miR-626	HITS-CLIP	19536157
MIRT711311	hsa-miR-6876-3p	HITS-CLIP	19536157
MIRT711310	hsa-miR-6895-3p	HITS-CLIP	19536157
MIRT298242	hsa-miR-593-3p	HITS-CLIP	19536157
MIRT711309	hsa-miR-346	HITS-CLIP	19536157
MIRT711308	hsa-miR-6818-3p	HITS-CLIP	19536157
MIRT711307	hsa-miR-4288	HITS-CLIP	19536157
MIRT711306	hsa-miR-632	HITS-CLIP	19536157
MIRT531220	hsa-miR-7151-5p	PAR-CLIP	22012620
MIRT531219	hsa-miR-4275	PAR-CLIP	22012620
MIRT531218	hsa-miR-4666a-5p	PAR-CLIP	22012620
MIRT531217	hsa-miR-4639-5p	PAR-CLIP	22012620
MIRT531216	hsa-miR-6885-3p	PAR-CLIP	22012620
MIRT1060896	hsa-miR-1343	CLIP-seq
MIRT1060897	hsa-miR-3074-5p	CLIP-seq
MIRT1060898	hsa-miR-3591-5p	CLIP-seq
MIRT1060899	hsa-miR-3647-3p	CLIP-seq
MIRT1060900	hsa-miR-3658	CLIP-seq
MIRT1060901	hsa-miR-4255	CLIP-seq
MIRT1060902	hsa-miR-4775	CLIP-seq
MIRT1060903	hsa-miR-590-3p	CLIP-seq
MIRT2246424	hsa-miR-135a	CLIP-seq
MIRT2246425	hsa-miR-135b	CLIP-seq
MIRT2246426	hsa-miR-147	CLIP-seq
MIRT2246427	hsa-miR-3182	CLIP-seq
MIRT2246428	hsa-miR-345	CLIP-seq
MIRT2246429	hsa-miR-3661	CLIP-seq
MIRT2246430	hsa-miR-4256	CLIP-seq
MIRT2246431	hsa-miR-4283	CLIP-seq
MIRT2246432	hsa-miR-4660	CLIP-seq
MIRT2246433	hsa-miR-4690-3p	CLIP-seq
MIRT2246434	hsa-miR-4695-3p	CLIP-seq
MIRT2246435	hsa-miR-579	CLIP-seq
MIRT2246436	hsa-miR-593	CLIP-seq
MIRT2246437	hsa-miR-631	CLIP-seq
MIRT2246438	hsa-miR-646	CLIP-seq
MIRT2246439	hsa-miR-767-3p	CLIP-seq

Gene ontology (GO) Show/Hide all (27)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000139	Component	Golgi membrane	IEA
GO:0001774	Process	Microglial cell activation	IEA
GO:0004896	Function	Cytokine receptor activity	IBA
GO:0004906	Function	Type II interferon receptor activity	IDA	20015550
GO:0004906	Function	Type II interferon receptor activity	TAS	9616207
GO:0005515	Function	Protein binding	IPI	32296183
GO:0005737	Component	Cytoplasm	IEA
GO:0005783	Component	Endoplasmic reticulum	HDA	16780588
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	IEA
GO:0005794	Component	Golgi apparatus	IEA
GO:0005886	Component	Plasma membrane	HDA	16780588
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IDA	20015550
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS	8910544
GO:0007166	Process	Cell surface receptor signaling pathway	TAS	9616207
GO:0009615	Process	Response to virus	TAS	8124716
GO:0016020	Component	Membrane	IEA
GO:0019221	Process	Cytokine-mediated signaling pathway	IBA
GO:0030659	Component	Cytoplasmic vesicle membrane	IEA
GO:0031410	Component	Cytoplasmic vesicle	IEA
GO:0038196	Process	Type III interferon-mediated signaling pathway	IDA	20015550
GO:0051607	Process	Defense response to virus	IEA
GO:0060333	Process	Type II interferon-mediated signaling pathway	NAS	15864272
GO:0098586	Process	Cellular response to virus	NAS	15864272
GO:1900451	Process	Positive regulation of glutamate receptor signaling pathway	IEA

Other IDs

• MIM: 147569
• HGNC: 5440
• e!Ensembl: ENSG00000159128

Protein

• UniProt ID: P38484
• Protein name: Interferon gamma receptor 2 (IFN-gamma receptor 2) (IFN-gamma-R2) (Interferon gamma receptor accessory factor 1) (AF-1) (Interferon gamma receptor beta-chain) (IFN-gamma-R-beta) (Interferon gamma transducer 1)
• Protein function: Associates with IFNGR1 to form a receptor for the cytokine interferon gamma (IFNG) (PubMed:7615558, PubMed:7673114, PubMed:8124716). Ligand binding stimulates activation of the JAK/STAT signaling pathway (PubMed:15356148, PubMed:7673114, PubMed:
• PDB: 5EH1 , 6E3K , 6E3L
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF01108	Tissue_fac	4 → 126	Tissue factor	Family
  PF09294	Interfer-bind	138 → 238	Interferon-alpha/beta receptor, fibronectin type III	Domain

• Tissue specificity: TISSUE SPECIFICITY: Expressed in T-cells (at protein level). {ECO:0000269|PubMed:10605012}.
• Sequence:

  MRPTLLWSLLLLLGVFAAAAAAPPDPLSQLPAPQHPKIRLYNAEQVLSWEPVALSNSTRP
  VVYQVQFKYTDSKWFTADIMSIGVNCTQITATECDFTAASPSAGFPMDFNVTLRLRAELG
  ALHSAWVTMPWFQHYRNVTVGPPENIEVTPGEGSLIIRFSSPFDIADTSTAFFCYYVHYW
  EKGGIQQVKGPFRSNSISLDNLKPSRVYCLQVQAQLLWNKSNIFRVGHLSNISCYETMAD
  ASTELQQVILISVGTFSLLSVLAGACFFLVLKYRGLIKYWFHTPPSIPLQIEEYLKDPTQ
  PILEALDKDSSPKDDVWDSVSIISFPEKEQEDVLQTL

• Sequence length: 337

Pathways

KEGG Pathway	Reactome Pathway
Cytokine-cytokine receptor interaction	Interferon gamma signaling
HIF-1 signaling pathway	Regulation of IFNG signaling
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
Herpes simplex virus 1 infection
Pathways in cancer
PD-L1 expression and PD-1 checkpoint pathway in cancer
Inflammatory bowel disease

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
Immunodeficiency 28	Likely pathogenic; Pathogenic	rs1316638883, rs2123368937, rs2123370265, rs587776822, rs74315444, rs587776823, rs398122890, rs1319389333, rs2083655919	RCV001376896 RCV001389082 RCV001728186 RCV000015847 RCV000015848 RCV000015849 RCV000030825 RCV001221073 RCV001268955 RCV001269033	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Unknown / Other Associations Show/Hide Unknown Diseases (20)
Phenotype Name	Clinical Significance	Source	Reference	Evidence Score
ANKYLOSING SPONDYLITIS	—	GWAS catalog	26974007	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CENTRAL NERVOUS SYSTEM CANCER	—	GWAS catalog	36810956	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CROHN'S DISEASE	—	GWAS catalog	22936669, 23128233, 26192919, 26974007, 28067908, 37156999	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIVERTICULAR DISEASE	—	GWAS catalog	30177863	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLIOBLASTOMA MULTIFORME	—	GWAS catalog	36810956	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLIOMA	—	GWAS catalog	36810956	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
IFNGR2-related disorder	Conflicting classifications of pathogenicity; Benign; Likely benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Immunodeficiency 27A	Benign; Likely benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INFLAMMATORY BOWEL DISEASE	—	GWAS catalog	22936669, 23128233, 26192919, 28067908, 37156999	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Interferon gamma receptor deficiency	Benign; Conflicting classifications of pathogenicity	ClinVar Disgenet	—	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Lung cancer	Benign; Likely benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MULTIPLE SCLEROSIS	—	GWAS catalog	24076602, 31604244	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OBESITY	—	GWAS catalog	23251661	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign; Likely benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PSORIASIS	—	GWAS catalog	25854761, 25903422, 26974007, 39885523	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RHEUMATOID ARTHRITIS	—	GWAS catalog	24390342, 30423114, 33310728, 36333501, 36762574, 40262193	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCLEROSING CHOLANGITIS	—	GWAS catalog	26974007	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Susceptibility to severe COVID-19	Likely risk allele	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ULCERATIVE COLITIS	—	GWAS catalog	26192919, 26974007, 28067908, 37156999	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Uncertain significance	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining Show/Hide Text Mining Associations (87)
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Alzheimer Disease	Alzheimer disease	Pubtator	29848382	Associate	★☆☆☆☆ Found in Text Mining only
Ankylosing spondylitis	Ankylosing Spondylitis	GWASCAT_DG	26974007		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Anodontia	Anodontia	Pubtator	36321611	Associate	★☆☆☆☆ Found in Text Mining only
Anus Neoplasms	Anus neoplasm	Pubtator	23609590	Associate	★☆☆☆☆ Found in Text Mining only
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	25708927	Associate	★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	Pubtator	19247692	Associate	★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	BEFREE	25994869		★☆☆☆☆ Found in Text Mining only
Atrial Fibrillation	Atrial Fibrillation	BEFREE	30369317		★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune disease	Pubtator	24023707	Associate	★☆☆☆☆ Found in Text Mining only
B-Cell Lymphomas	B-Cell Lymphoma	BEFREE	20952689		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	23996684		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	23996684, 27927249	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	31921143	Associate	★☆☆☆☆ Found in Text Mining only
Cerebrovascular accident	Stroke	BEFREE	29223431, 30369317		★☆☆☆☆ Found in Text Mining only
Cholangitis, Sclerosing	Cholangitis	GWASCAT_DG	26974007		★☆☆☆☆ Found in Text Mining only
Chronic Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	20952689		★☆☆☆☆ Found in Text Mining only
Chronic Periodontitis	Periodontitis	BEFREE	30304122		★☆☆☆☆ Found in Text Mining only
Chronic Periodontitis	Periodontitis	Pubtator	30304122	Associate	★☆☆☆☆ Found in Text Mining only
Colitis	Colitis	BEFREE	31566580		★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic neoplasm	Pubtator	37370088	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	29408916		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	21859832, 29408916	Associate	★☆☆☆☆ Found in Text Mining only
Complete atrioventricular block	Complete Atrioventricular Block	BEFREE	23980639		★☆☆☆☆ Found in Text Mining only
Coronary Arteriosclerosis	Coronary Arteriosclerosis	BEFREE	29223431		★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	BEFREE	29223431		★☆☆☆☆ Found in Text Mining only
Coronary heart disease	Coronary Heart Disease	BEFREE	29223431		★☆☆☆☆ Found in Text Mining only
Craniosynostoses	Craniosynostosis	Pubtator	29106381	Associate	★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn Disease	BEFREE	22936669, 28139755		★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn Disease	GWASDB_DG	22936669, 23128233		★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn Disease	GWASCAT_DG	22936669, 23128233, 26192919, 26974007, 28067908		★☆☆☆☆ Found in Text Mining only
Cystic Fibrosis	Cystic fibrosis	Pubtator	19399182	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	39202464	Associate	★☆☆☆☆ Found in Text Mining only
Down Syndrome	Down syndrome	Pubtator	32572726, 33260695	Associate	★☆☆☆☆ Found in Text Mining only
Fibrosis, Liver	Liver Fibrosis	BEFREE	20587546		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	36321611	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Heart Defects Congenital	Congenital heart defect	Pubtator	33260695	Associate	★☆☆☆☆ Found in Text Mining only
Heart Diseases	Heart disease	Pubtator	33260695	Associate	★☆☆☆☆ Found in Text Mining only
Hemochromatosis	Hemochromatosis	Pubtator	36321611	Associate	★☆☆☆☆ Found in Text Mining only
Huntington Disease	Huntington disease	Pubtator	29848382	Associate	★☆☆☆☆ Found in Text Mining only
Hypergammaglobulinemia	Hypergammaglobulinemia	Pubtator	26162572	Associate	★☆☆☆☆ Found in Text Mining only
Immune System Diseases	Immune system disease	Pubtator	34293519	Associate	★☆☆☆☆ Found in Text Mining only
IMMUNODEFICIENCY 28	Immunodeficiency	UNIPROT_DG	10608793, 15924140, 22902943, 23963039		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
IMMUNODEFICIENCY 28	Immunodeficiency	GENOMICS_ENGLAND_DG	30264912		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
IMMUNODEFICIENCY 28	Immunodeficiency	CTD_human_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
IMMUNODEFICIENCY 28	Immunodeficiency	CLINVAR_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Immunologic Deficiency Syndromes	Immunologic Deficiency Syndromes	HPO_DG			★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory Bowel Disease	GWASCAT_DG	26192919, 28067908		★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory Bowel Disease	BEFREE	28139755		★☆☆☆☆ Found in Text Mining only
Intervertebral Disc Degeneration	Intervertebral disc disease	Pubtator	36081453	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	26246143, 31921143, 33356802	Associate	★☆☆☆☆ Found in Text Mining only
Lung diseases	Lung Diseases	BEFREE	16682253		★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus Systemic	Systemic lupus erythematosus	Pubtator	10403400	Associate	★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Systemic	Lupus Erythematosus	BEFREE	10403400, 17618444		★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Systemic	Lupus Erythematosus	LHGDN	17618444		★☆☆☆☆ 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
Malignant neoplasm of breast	Breast Cancer	BEFREE	23996684		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	16885196		★☆☆☆☆ Found in Text Mining only
Marginal Zone B-Cell Lymphoma	B-Cell Lymphoma	BEFREE	20952689		★☆☆☆☆ Found in Text Mining only
Microvascular Angina	Microvascular Angina	LHGDN	17546485		★☆☆☆☆ Found in Text Mining only
Mucosa-Associated Lymphoid Tissue Lymphoma	Mucosa-associated lymphoma	BEFREE	20952689		★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple Sclerosis	BEFREE	15182327		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Multiple Sclerosis	Multiple Sclerosis	GWASCAT_DG	24076602		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myocardial Infarction	Myocardial Infarction	BEFREE	16115485		★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial infarction	Pubtator	29434065	Associate	★☆☆☆☆ Found in Text Mining only
Myocarditis	Myocarditis	LHGDN	19172849		★☆☆☆☆ Found in Text Mining only
Myositis Inclusion Body	Myositis	Pubtator	21855683	Stimulate	★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	26987263		★☆☆☆☆ Found in Text Mining only
Paranoid Schizophrenia	Paranoid Schizophrenia	BEFREE	27563937		★☆☆☆☆ 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
Polycythemia Vera	Polycythemia vera	Pubtator	26491227	Associate	★☆☆☆☆ Found in Text Mining only
Primary immune deficiency disorder	immunodeficiency	BEFREE	20587411		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	36577061	Associate	★☆☆☆☆ Found in Text Mining only
Psoriasis	Psoriasis	GWASCAT_DG	25854761, 26974007		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Rectal Carcinoma	Rectal Carcinoma	BEFREE	21859832		★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	25708927		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	BEFREE	27563937		★☆☆☆☆ Found in Text Mining only
Seminoma	Seminoma	BEFREE	17220333		★☆☆☆☆ Found in Text Mining only
Sezary Syndrome	Sezary syndrome	Pubtator	8695857	Associate	★☆☆☆☆ Found in Text Mining only
Small Lymphocytic Lymphoma	Lymphocytic Leukemia	BEFREE	20952689		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	BEFREE	20587411		★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	16885196		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach Neoplasms	LHGDN	16885196		★☆☆☆☆ Found in Text Mining only
T-Cell Lymphoma	T-Cell Lymphoma	BEFREE	20952689		★☆☆☆☆ Found in Text Mining only
Ulcerative Colitis	Ulcerative colitis	GWASCAT_DG	26974007		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ulcerative Colitis	Ulcerative colitis	BEFREE	28139755		★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Related Genes

Sort by: Blended Diseases Pathways Evidence source

IFNGR1 2 shared diseasesImmunodeficiency, Interferon gamma receptor deficiency 18 shared pathwaysCytokine-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 +6 more 5 shared evidence sourcesHPO (Immunodeficiency), Disgenet (Immunodeficiency), ClinVar (Immunodeficiency), CTD (Immunodeficiency), Disgenet (Interferon gamma receptor deficiency) Related via 18 shared pathways including Cytokine-cytokine receptor interaction, HIF-1 signaling pathway — evidence mostly Disgenet. SLC39A11 2 shared diseasesDiverticular disease, Sclerosing cholangitis 3 shared evidence sourcesGWAS catalog (Ankylosing spondylitis), GWAS catalog (Diverticular disease), GWAS catalog (Sclerosing cholangitis) Related via 2 shared diseases including Diverticular disease, Sclerosing cholangitis — evidence mostly GWAS catalog. TMEM50B 2 shared diseasesImmunodeficiency, Interferon gamma receptor deficiency 2 shared evidence sourcesDisgenet (Immunodeficiency), Disgenet (Interferon gamma receptor deficiency) Related via 2 shared diseases including Immunodeficiency, Interferon gamma receptor deficiency — evidence mostly Disgenet. IFNAR1 2 shared diseasesDiverticular disease, Immunodeficiency 7 shared pathwaysCytokine-cytokine receptor interaction, Necroptosis, Osteoclast differentiation, JAK-STAT signaling pathway, Natural killer cell mediated cytotoxicity, Influenza A, Herpes simplex virus 1 infection 4 shared evidence sourcesGWAS catalog (Diverticular disease), HPO (Immunodeficiency), Disgenet (Immunodeficiency), ClinVar (Immunodeficiency) Related via 7 shared pathways including Cytokine-cytokine receptor interaction, Necroptosis — evidence mostly GWAS catalog. RORC 2 shared diseasesImmunodeficiency, Sclerosing cholangitis 2 shared pathwaysTh17 cell differentiation, Inflammatory bowel disease 4 shared evidence sourcesGWAS catalog (Ankylosing spondylitis), HPO (Immunodeficiency), CTD (Immunodeficiency), GWAS catalog (Sclerosing cholangitis) Related via 2 shared diseases including Immunodeficiency, Sclerosing cholangitis — evidence mostly GWAS catalog.

Related Gene	Shared Diseases	Shared Disease Names	Shared Pathways	Shared Pathway Names	Shared Evidence Sources	Shared Evidence Names
IFNGR1	2	["Immunodeficiency","Interferon gamma receptor deficiency"]	18	["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"]	5	["HPO (Immunodeficiency)","Disgenet (Immunodeficiency)","ClinVar (Immunodeficiency)","CTD (Immunodeficiency)","Disgenet (Interferon gamma receptor deficiency)"]
SLC39A11	2	["Diverticular disease","Sclerosing cholangitis"]	0	[]	3	["GWAS catalog (Ankylosing spondylitis)","GWAS catalog (Diverticular disease)","GWAS catalog (Sclerosing cholangitis)"]
TMEM50B	2	["Immunodeficiency","Interferon gamma receptor deficiency"]	0	[]	2	["Disgenet (Immunodeficiency)","Disgenet (Interferon gamma receptor deficiency)"]
IFNAR1	2	["Diverticular disease","Immunodeficiency"]	7	["Cytokine-cytokine receptor interaction","Necroptosis","Osteoclast differentiation","JAK-STAT signaling pathway","Natural killer cell mediated cytotoxicity","Influenza A","Herpes simplex virus 1 infection"]	4	["GWAS catalog (Diverticular disease)","HPO (Immunodeficiency)","Disgenet (Immunodeficiency)","ClinVar (Immunodeficiency)"]
RORC	2	["Immunodeficiency","Sclerosing cholangitis"]	2	["Th17 cell differentiation","Inflammatory bowel disease"]	4	["GWAS catalog (Ankylosing spondylitis)","HPO (Immunodeficiency)","CTD (Immunodeficiency)","GWAS catalog (Sclerosing cholangitis)"]

Diseases Linked via Similar Genes

Asthma Linked via 2 of 5 related genesIFNGR1, RORC Diabetes mellitus type 2 Linked via 2 of 5 related genesIFNGR1, SLC39A11 Behcet disease Linked via 1 of 5 related genesIFNGR1 Color vision deficiency Linked via 1 of 5 related genesIFNGR1 Colorectal cancer Linked via 1 of 5 related genesIFNGR1

Disease	Linked Via (Gene Count)	Linked Via (Gene Names)
Asthma	2	["IFNGR1","RORC"]
Diabetes mellitus type 2	2	["IFNGR1","SLC39A11"]
Behcet disease	1	["IFNGR1"]
Color vision deficiency	1	["IFNGR1"]
Colorectal cancer	1	["IFNGR1"]