RORC (RAR related orphan receptor C)

Gene

• Entrez ID: 6097
• Gene name: RAR related orphan receptor C
• Gene symbol: RORC
• Synonyms (NCBI Gene): IMD42, NR1F3, RORG, RZR-GAMMA, RZRG, TOR
• Chromosome: 1
• Chromosome location: 1q21.3
• Summary: The protein encoded by this gene is a DNA-binding transcription factor and is a member of the NR1 subfamily of nuclear hormone receptors. The specific functions of this protein are not known; however, studies of a similar gene in mice have shown that this

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs774357869	G>A	Pathogenic	Coding sequence variant, missense variant
rs863225091	G>A	Pathogenic	Coding sequence variant, stop gained
rs863225092	G>A	Pathogenic	Coding sequence variant, stop gained

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT007283	hsa-miR-30b-3p	Luciferase reporter assay	23359619
MIRT018972	hsa-miR-335-5p	Microarray	18185580
MIRT019468	hsa-miR-148b-3p	Microarray	17612493
MIRT030126	hsa-miR-26b-5p	Microarray	19088304
MIRT1315280	hsa-miR-106a	CLIP-seq
MIRT1315281	hsa-miR-106b	CLIP-seq
MIRT1315282	hsa-miR-1197	CLIP-seq
MIRT1315283	hsa-miR-1224-3p	CLIP-seq
MIRT1315284	hsa-miR-1260	CLIP-seq
MIRT1315285	hsa-miR-1260b	CLIP-seq
MIRT1315286	hsa-miR-1280	CLIP-seq
MIRT1315287	hsa-miR-17	CLIP-seq
MIRT1315288	hsa-miR-193a-5p	CLIP-seq
MIRT1315289	hsa-miR-20a	CLIP-seq
MIRT1315290	hsa-miR-20b	CLIP-seq
MIRT1315291	hsa-miR-3125	CLIP-seq
MIRT1315292	hsa-miR-3609	CLIP-seq
MIRT1315293	hsa-miR-3916	CLIP-seq
MIRT1315294	hsa-miR-3925-3p	CLIP-seq
MIRT1315295	hsa-miR-4710	CLIP-seq
MIRT1315296	hsa-miR-4753-3p	CLIP-seq
MIRT1315297	hsa-miR-4796-3p	CLIP-seq
MIRT1315298	hsa-miR-519a	CLIP-seq
MIRT1315299	hsa-miR-519b-3p	CLIP-seq
MIRT1315300	hsa-miR-519c-3p	CLIP-seq
MIRT1315301	hsa-miR-519d	CLIP-seq
MIRT1315302	hsa-miR-548ah	CLIP-seq
MIRT1315303	hsa-miR-605	CLIP-seq
MIRT1315304	hsa-miR-615-5p	CLIP-seq
MIRT1315305	hsa-miR-635	CLIP-seq
MIRT1315306	hsa-miR-766	CLIP-seq
MIRT1315307	hsa-miR-877	CLIP-seq
MIRT1315308	hsa-miR-93	CLIP-seq
MIRT1315309	hsa-miR-942	CLIP-seq
MIRT2093780	hsa-miR-1206	CLIP-seq
MIRT2093781	hsa-miR-1207-3p	CLIP-seq
MIRT2093782	hsa-miR-3921	CLIP-seq
MIRT2093783	hsa-miR-4653-5p	CLIP-seq
MIRT2093784	hsa-miR-4731-5p	CLIP-seq
MIRT1315280	hsa-miR-106a	CLIP-seq
MIRT1315281	hsa-miR-106b	CLIP-seq
MIRT2318189	hsa-miR-1237	CLIP-seq
MIRT2318190	hsa-miR-1246	CLIP-seq
MIRT2318191	hsa-miR-1248	CLIP-seq
MIRT1315287	hsa-miR-17	CLIP-seq
MIRT2318192	hsa-miR-1827	CLIP-seq
MIRT2318193	hsa-miR-186	CLIP-seq
MIRT1315289	hsa-miR-20a	CLIP-seq
MIRT1315290	hsa-miR-20b	CLIP-seq
MIRT2318194	hsa-miR-2115	CLIP-seq
MIRT2318195	hsa-miR-2467-3p	CLIP-seq
MIRT2318196	hsa-miR-3160-3p	CLIP-seq
MIRT2318197	hsa-miR-3192	CLIP-seq
MIRT2318198	hsa-miR-3201	CLIP-seq
MIRT2318199	hsa-miR-320a	CLIP-seq
MIRT2318200	hsa-miR-320b	CLIP-seq
MIRT2318201	hsa-miR-320c	CLIP-seq
MIRT2318202	hsa-miR-320d	CLIP-seq
MIRT1315292	hsa-miR-3609	CLIP-seq
MIRT2318203	hsa-miR-3622a-3p	CLIP-seq
MIRT2318204	hsa-miR-3622b-3p	CLIP-seq
MIRT2318205	hsa-miR-3689a-3p	CLIP-seq
MIRT2318206	hsa-miR-3689c	CLIP-seq
MIRT2318207	hsa-miR-3714	CLIP-seq
MIRT2093782	hsa-miR-3921	CLIP-seq
MIRT2318208	hsa-miR-4429	CLIP-seq
MIRT2318209	hsa-miR-4476	CLIP-seq
MIRT2318210	hsa-miR-4487	CLIP-seq
MIRT2318211	hsa-miR-4495	CLIP-seq
MIRT2093783	hsa-miR-4653-5p	CLIP-seq
MIRT2318212	hsa-miR-4663	CLIP-seq
MIRT2318213	hsa-miR-4686	CLIP-seq
MIRT2318214	hsa-miR-4711-3p	CLIP-seq
MIRT2318215	hsa-miR-4728-5p	CLIP-seq
MIRT2318216	hsa-miR-4791	CLIP-seq
MIRT1315297	hsa-miR-4796-3p	CLIP-seq
MIRT2318217	hsa-miR-502-5p	CLIP-seq
MIRT2318218	hsa-miR-5096	CLIP-seq
MIRT2318219	hsa-miR-515-5p	CLIP-seq
MIRT2318220	hsa-miR-516a-3p	CLIP-seq
MIRT1315298	hsa-miR-519a	CLIP-seq
MIRT1315299	hsa-miR-519b-3p	CLIP-seq
MIRT1315300	hsa-miR-519c-3p	CLIP-seq
MIRT1315301	hsa-miR-519d	CLIP-seq
MIRT1315302	hsa-miR-548ah	CLIP-seq
MIRT2318221	hsa-miR-558	CLIP-seq
MIRT2318222	hsa-miR-579	CLIP-seq
MIRT2318223	hsa-miR-593	CLIP-seq
MIRT2318224	hsa-miR-628-5p	CLIP-seq
MIRT2318225	hsa-miR-664	CLIP-seq
MIRT1315308	hsa-miR-93	CLIP-seq
MIRT1315283	hsa-miR-1224-3p	CLIP-seq
MIRT1315284	hsa-miR-1260	CLIP-seq
MIRT1315285	hsa-miR-1260b	CLIP-seq
MIRT1315286	hsa-miR-1280	CLIP-seq
MIRT2614045	hsa-miR-1252	CLIP-seq
MIRT2614046	hsa-miR-3153	CLIP-seq
MIRT2614047	hsa-miR-3611	CLIP-seq
MIRT2614048	hsa-miR-4455	CLIP-seq
MIRT2614049	hsa-miR-4668-5p	CLIP-seq
MIRT2614050	hsa-miR-609	CLIP-seq
MIRT2614045	hsa-miR-1252	CLIP-seq
MIRT2614046	hsa-miR-3153	CLIP-seq
MIRT2614047	hsa-miR-3611	CLIP-seq
MIRT2614048	hsa-miR-4455	CLIP-seq
MIRT2614049	hsa-miR-4668-5p	CLIP-seq
MIRT2614050	hsa-miR-609	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IDA	20427770
GO:0000785	Component	Chromatin	ISA
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IDA	20427770
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	ISA
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	ISS
GO:0001227	Function	DNA-binding transcription repressor activity, RNA polymerase II-specific	IDA	20427770
GO:0003677	Function	DNA binding	IEA
GO:0003700	Function	DNA-binding transcription factor activity	IEA
GO:0003700	Function	DNA-binding transcription factor activity	ISS
GO:0004879	Function	Nuclear receptor activity	IBA
GO:0004879	Function	Nuclear receptor activity	IEA
GO:0004879	Function	Nuclear receptor activity	TAS	7811290
GO:0005515	Function	Protein binding	IPI	18368049, 20203100, 22170608, 23555304, 32296183
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IDA	19965867
GO:0005634	Component	Nucleus	IEA
GO:0005634	Component	Nucleus	ISS
GO:0005654	Component	Nucleoplasm	IEA
GO:0005654	Component	Nucleoplasm	TAS
GO:0006355	Process	Regulation of DNA-templated transcription	IEA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IBA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IEA
GO:0006805	Process	Xenobiotic metabolic process	ISS
GO:0007623	Process	Circadian rhythm	IEA
GO:0008142	Function	Oxysterol binding	IBA
GO:0008142	Function	Oxysterol binding	IDA	19965867
GO:0008270	Function	Zinc ion binding	IEA
GO:0010468	Process	Regulation of gene expression	IEA
GO:0010906	Process	Regulation of glucose metabolic process	ISS
GO:0016604	Component	Nuclear body	IDA
GO:0019218	Process	Regulation of steroid metabolic process	ISS
GO:0030522	Process	Intracellular receptor signaling pathway	IEA
GO:0032922	Process	Circadian regulation of gene expression	ISS
GO:0036315	Process	Cellular response to sterol	IDA	19965867
GO:0042093	Process	T-helper cell differentiation	ISS
GO:0042753	Process	Positive regulation of circadian rhythm	ISS
GO:0043565	Function	Sequence-specific DNA binding	IEA
GO:0045598	Process	Regulation of fat cell differentiation	ISS
GO:0045893	Process	Positive regulation of DNA-templated transcription	ISS
GO:0046872	Function	Metal ion binding	IEA
GO:0048511	Process	Rhythmic process	IEA
GO:0048535	Process	Lymph node development	ISS
GO:0048541	Process	Peyer's patch development	ISS
GO:0060612	Process	Adipose tissue development	ISS
GO:0070244	Process	Negative regulation of thymocyte apoptotic process	ISS
GO:0072539	Process	T-helper 17 cell differentiation	ISS
GO:0098531	Function	Ligand-modulated transcription factor activity	IDA	19965867
GO:1990837	Function	Sequence-specific double-stranded DNA binding	IDA	28473536

Other IDs

• MIM: 602943
• HGNC: 10260
• e!Ensembl: ENSG00000143365

Protein

• UniProt ID: P51449
• Protein name: Nuclear receptor ROR-gamma (Nuclear receptor RZR-gamma) (Nuclear receptor subfamily 1 group F member 3) (RAR-related orphan receptor C) (Retinoid-related orphan receptor-gamma)
• Protein function: Nuclear receptor that binds DNA as a monomer to ROR response elements (RORE) containing a single core motif half-site 5'-AGGTCA-3' preceded by a short A-T-rich sequence. Key regulator of cellular differentiation, immunity, peripheral circadian r
• PDB: 3B0W, 3KYT, 3L0J, 3L0L, 4NB6, 4NIE, 4QM0, 4S14, 4WLB, 4WPF, 4WQP, 4XT9, 4YMQ, 4YPQ, 4ZJR, 4ZJW, 4ZOM, 5APH, 5APJ, 5APK, 5AYG, 5C4O, 5C4S, 5C4T, 5C4U, 5EJV, 5ETH, 5G42, 5G43, 5G44, 5G45, 5G46, 5IXK, 5IZ0, 5K38, 5K3L, 5K3M, 5K3N, 5K6E, 5K74, 5LWP, 5M96, 5NI5, 5NI7, 5NI8, 5NIB, 5NTI, 5NTK, 5NTN, 5NTP, 5NTQ
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00105	zf-C4	29 → 98	Zinc finger, C4 type (two domains)	Domain
  PF00104	Hormone_recep	310 → 488	Ligand-binding domain of nuclear hormone receptor	Domain

• Tissue specificity: TISSUE SPECIFICITY: Isoform 1 is widely expressed in many tissues, including liver and adipose, and highly expressed in skeletal muscle. Isoform 2 is primarily expressed in immature thymocytes.
• Sequence:

  MDRAPQRQHRASRELLAAKKTHTSQIEVIPCKICGDKSSGIHYGVITCEGCKGFFRRSQR
  CNAAYSCTRQQNCPIDRTSRNRCQHCRLQKCLALGMSRDAVKFGRMSKKQRDSLHAEVQK
  QLQQRQQQQQEPVVKTPPAGAQGADTLTYTLGLPDGQLPLGSSPDLPEASACPPGLLKAS
  GSGPSYSNNLAKAGLNGASCHLEYSPERGKAEGRESFYSTGSQLTPDRCGLRFEEHRHPG
  LGELGQGPDSYGSPSFRSTPEAPYASLTEIEHLVQSVCKSYRETCQLRLEDLLRQRSNIF
  SREEVTGYQRKSMWEMWERCAHHLTEAIQYVVEFAKRLSGFMELCQNDQIVLLKAGAMEV
  VLVRMCRAYNADNRTVFFEGKYGGMELFRALGCSELISSIFDFSHSLSALHFSEDEIALY
  TALVLINAHRPGLQEKRKVEQLQYNLELAFHHHLCKTHRQSILAKLPPKGKLRSLCSQHV
  ERLQIFQHLHPIVVQAAFPPLYKELFSTETESPVGLSK

• Sequence length: 518

Pathways

KEGG:

Th17 cell differentiation
Circadian rhythm
Inflammatory bowel disease

Reactome:

Nuclear Receptor transcription pathway
Interleukin-4 and Interleukin-13 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 recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency	Likely pathogenic; Pathogenic	rs2101656625, rs774357869, rs863225091, rs863225092, rs1558164428, rs2525630257, rs1651702189	RCV001379824 RCV000201419 RCV000201359 RCV000201397 RCV003337837 RCV003592455 RCV003755902	★★★★★ 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
CHILDHOOD ONSET ASTHMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CROHN'S DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GOUT	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
IMMUNODEFICIENCY 42	—	CTD, HPO CTD, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INFLAMMATORY BOWEL DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INSOMNIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NON-MELANOMA SKIN CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign	ClinVar	★★☆☆☆ 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
RORC-related disorder	Likely benign; Benign; Conflicting classifications of pathogenicity; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCLEROSING CHOLANGITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SLEEP DISORDERS, CIRCADIAN RHYTHM	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ULCERATIVE COLITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Acromegaly	Acromegaly	BEFREE	23825587		★☆☆☆☆ Found in Text Mining only
Adult T-Cell Lymphoma/Leukemia	T-Cell Lymphoma/Leukemia	BEFREE	30303535		★☆☆☆☆ Found in Text Mining only
Advanced Sleep Phase Syndrome	Advanced Sleep Phase Syndrome	CTD_human_DG	25395965		★☆☆☆☆ Found in Text Mining only
Allergic rhinitis (disorder)	Allergic rhinitis	BEFREE	24647473		★☆☆☆☆ Found in Text Mining only
Arthritis Psoriatic	Psoriatic arthritis	Pubtator	20583102, 31677365	Associate	★☆☆☆☆ Found in Text Mining only
Arthritis Psoriatic	Psoriatic arthritis	Pubtator	33452865	Stimulate	★☆☆☆☆ Found in Text Mining only
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	20583102, 27043554	Associate	★☆☆☆☆ Found in Text Mining only
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	25430993	Stimulate	★☆☆☆☆ Found in Text Mining only
Arthritis, Psoriatic	Psoriatic Arthritis	BEFREE	31677365		★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	Pubtator	24845870	Associate	★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	BEFREE	28438638		★☆☆☆☆ Found in Text Mining only
Autoimmune Chronic Hepatitis	Autoimmune hepatitis	BEFREE	22371007		★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune Diseases	BEFREE	24745332, 24812667, 28493531		★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune disease	Pubtator	27374490, 28493531, 34673799	Associate	★☆☆☆☆ Found in Text Mining only
Behcet Syndrome	Behcet Syndrome	BEFREE	22935165		★☆☆☆☆ Found in Text Mining only
Behcet Syndrome	Behcet disease	Pubtator	25873156	Associate	★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	21406469, 27211549, 29455641		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	12970465, 24911119, 37732365, 39193850	Associate	★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	27034171	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Ductal	Ductal carcinoma	Pubtator	23529839	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	17613432, 29455641		★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	33390778	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	35603384	Associate	★☆☆☆☆ Found in Text Mining only
Chronic Disease	Chronic disease	Pubtator	27773939	Associate	★☆☆☆☆ Found in Text Mining only
Chronic Obstructive Airway Disease	Chronic Obstructive Pulmonary Disease	BEFREE	28658564		★☆☆☆☆ Found in Text Mining only
Chronic rhinosinusitis with nasal polyps	Rhinosinusitis With Nasal Polyps	BEFREE	31326962		★☆☆☆☆ Found in Text Mining only
Cleft Palate	Cleft palate	Pubtator	26000313	Associate	★☆☆☆☆ Found in Text Mining only
Colitis	Colitis	BEFREE	31302143		★☆☆☆☆ Found in Text Mining only
Colitis Ulcerative	Ulcerative colitis	Pubtator	35665804, 38302916	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	10896920		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	33947261, 35137551, 36941538	Associate	★☆☆☆☆ Found in Text Mining only
Common Variable Immunodeficiency	Common variable immunodeficiency	Pubtator	29345621	Inhibit	★☆☆☆☆ Found in Text Mining only
Congenital hypoplasia of thymus	Congenital Hypoplasia Of Thymus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	BEFREE	27904993		★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	Pubtator	26830200	Stimulate	★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn Disease	BEFREE	21600899		★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn disease	Pubtator	31191543	Associate	★☆☆☆☆ Found in Text Mining only
Delayed Sleep Phase Syndrome	Delayed Sleep Phase Syndrome	CTD_human_DG	25395965		★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	21613227, 28888322, 29781726, 30368647		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	21613227, 28888322, 29781726, 30368647		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes mellitus	Pubtator	30762474	Inhibit	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 1	Diabetes mellitus, type 1	Pubtator	31299986	Inhibit	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 1	Diabetes mellitus, type 1	Pubtator	35966054	Stimulate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	30762474	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	12855222, 30762474		★☆☆☆☆ Found in Text Mining only
Dystonic Disorders	Dystonia	Pubtator	31640787	Associate	★☆☆☆☆ Found in Text Mining only
Enterocolitis Necrotizing	Enterocolitis	Pubtator	24194940	Associate	★☆☆☆☆ Found in Text Mining only
Familial multiple trichoepitheliomata	Multiple Trichoepithelioma	BEFREE	22767218		★☆☆☆☆ Found in Text Mining only
FRIEDREICH ATAXIA 1	Friedreich Ataxia	BEFREE	26158631		★☆☆☆☆ Found in Text Mining only
Funisitis (disorder)	Funisitis	BEFREE	27814345		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	34681642	Associate	★☆☆☆☆ Found in Text Mining only
Graves Disease	Graves disease	Pubtator	33912135	Associate	★☆☆☆☆ Found in Text Mining only
Growth Hormone-Secreting Pituitary Adenoma	Somatotroph Adenoma	BEFREE	23825587		★☆☆☆☆ Found in Text Mining only
Heart failure	Heart Failure	BEFREE	27904993		★☆☆☆☆ Found in Text Mining only
Hodgkin Disease	Hodgkin disease	Pubtator	31924597	Associate	★☆☆☆☆ Found in Text Mining only
Hyperglycemia	Hyperglycemia	BEFREE	31502876		★☆☆☆☆ Found in Text Mining only
Hypertrophic Cardiomyopathy	Hypertrophic cardiomyopathy	BEFREE	21339643		★☆☆☆☆ Found in Text Mining only
Hypoglycemia	Hypoglycemia	BEFREE	31502876		★☆☆☆☆ Found in Text Mining only
IMMUNODEFICIENCY 42	Immunodeficiency	ORPHANET_DG	26160376		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
IMMUNODEFICIENCY 42	Immunodeficiency	UNIPROT_DG	26160376		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
IMMUNODEFICIENCY 42	Immunodeficiency	GENOMICS_ENGLAND_DG	26160376		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
IMMUNODEFICIENCY 42	Immunodeficiency	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Inflammatory Bowel Diseases	Inflammatory Bowel Disease	BEFREE	24670426, 30006408, 30537794		★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory bowel disease	Pubtator	34673799	Associate	★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Intellectual developmental disorder	Pubtator	36180667	Associate	★☆☆☆☆ Found in Text Mining only
Ki-1+ Anaplastic Large Cell Lymphoma	Anaplastic Lymphoma	BEFREE	29588546		★☆☆☆☆ Found in Text Mining only
Kidney Failure Chronic	Kidney failure	Pubtator	40751815	Associate	★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	BEFREE	30303535		★☆☆☆☆ Found in Text Mining only
Leukemia	Leukemia	Pubtator	30303535	Inhibit	★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	24473142	Associate	★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung Neoplasms	BEFREE	27034171		★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus Systemic	Systemic lupus erythematosus	Pubtator	24433387	Associate	★☆☆☆☆ Found in Text Mining only
Lupus Nephritis	Lupus nephritis	Pubtator	36532018	Associate	★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	21406469, 27211549, 29455641		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	17613432, 29455641		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	30029874		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	22246147, 25038521, 28146265, 28303961, 28888322, 30368647, 30668361, 31840244		★☆☆☆☆ Found in Text Mining only
Melanoma Cutaneous Malignant	Melanoma	Pubtator	37373286	Associate	★☆☆☆☆ Found in Text Mining only
Muscular Atrophy Spinal	Spinal muscular atrophy	Pubtator	34161763	Associate	★☆☆☆☆ Found in Text Mining only
Nasal Polyps	Nasal polyp	Pubtator	27166273, 31326962	Associate	★☆☆☆☆ Found in Text Mining only
Necrotizing enterocolitis in fetus OR newborn	Necrotizing Enterocolitis	BEFREE	24905458		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	23825587		★☆☆☆☆ Found in Text Mining only
Neurodegenerative Disorders	Neurodegenerative Disorders	BEFREE	28888322		★☆☆☆☆ Found in Text Mining only
Neuroendocrine Tumors	Neuroendocrine Tumors	BEFREE	28535439, 31527867		★☆☆☆☆ Found in Text Mining only
Non-24 Hour Sleep-Wake Disorder	Non-24 Hour Sleep-Wake Disorder	CTD_human_DG	25395965		★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	27441499		★☆☆☆☆ Found in Text Mining only
Nonorganic Sleep Wake Cycle Disorders	Nonorganic Sleep Wake Cycle Disorders	CTD_human_DG	25395965		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	21035763, 21216618, 21853531, 28888322, 30368647		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	27773939, 30622974	Associate	★☆☆☆☆ Found in Text Mining only
Osteoarthritis	Osteoarthritis	Pubtator	35887269	Associate	★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	37196681	Associate	★☆☆☆☆ Found in Text Mining only
PACHYONYCHIA CONGENITA 3	Pachyonychia Congenita	BEFREE	18831768		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	32928922	Associate	★☆☆☆☆ Found in Text Mining only
Pediatric Obesity	Childhood obesity	BEFREE	30622974		★☆☆☆☆ Found in Text Mining only
Pleurisy	Pleuritis	BEFREE	27450010		★☆☆☆☆ Found in Text Mining only
Psoriasis	Psoriasis	Pubtator	16374479	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Psoriasis	Psoriasis	Pubtator	33452865	Stimulate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Psoriasis vulgaris	Psoriasis vulgaris	BEFREE	30671936		★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	27043554, 31028998		★☆☆☆☆ Found in Text Mining only
Roberts-SC phocomelia syndrome	Roberts-SC Phocomelia Syndrome	BEFREE	24098154		★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	30138899		★☆☆☆☆ Found in Text Mining only
Shift-Work Sleep Disorder	Shift-Work Sleep Disorder	CTD_human_DG	25395965		★☆☆☆☆ Found in Text Mining only
Sjogren's Syndrome	Sjogren syndrome	Pubtator	28621822	Associate	★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	37373553	Associate	★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	30029874		★☆☆☆☆ Found in Text Mining only
Systemic Scleroderma	Scleroderma	BEFREE	27902985		★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	26474968	Associate	★☆☆☆☆ Found in Text Mining only