Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs Other IDs Associated diseases
Entrez ID	7132
Gene name	TNF receptor superfamily member 1A
Gene symbol	TNFRSF1A
Synonyms (NCBI Gene)	CD120aFPFTBP1TNF-RTNF-R-ITNF-R55TNFARTNFR1TNFR55TNFR60p55p55-Rp60
Chromosome	12
Chromosome location	12p13.31
Summary	This gene encodes a member of the TNF receptor superfamily of proteins. The encoded receptor is found in membrane-bound and soluble forms that interact with membrane-bound and soluble forms, respectively, of its ligand, tumor necrosis factor alpha. Bindin

Show/Hide all (26)

SNP ID	Visualize variation	Clinical significance	Consequence
rs1800693	T>C	Benign, risk-factor, likely-benign	Intron variant
rs4149584	C>G,T	Conflicting-interpretations-of-pathogenicity, pathogenic	Coding sequence variant, 5 prime UTR variant, missense variant, non coding transcript variant
rs34751757	G>A,T	Not-provided, conflicting-interpretations-of-pathogenicity	Non coding transcript variant, 5 prime UTR variant, coding sequence variant, missense variant
rs104895217	A>G	Pathogenic	Non coding transcript variant, 5 prime UTR variant, intron variant, coding sequence variant, missense variant
rs104895218	C>T	Pathogenic	Non coding transcript variant, 5 prime UTR variant, intron variant, coding sequence variant, missense variant
rs104895219	G>A,T	Pathogenic, not-provided	Non coding transcript variant, coding sequence variant, 5 prime UTR variant, missense variant
rs104895220	C>A,T	Pathogenic, not-provided	Non coding transcript variant, coding sequence variant, 5 prime UTR variant, missense variant
rs104895221	A>G	Pathogenic	Non coding transcript variant, coding sequence variant, 5 prime UTR variant, missense variant
rs104895222	C>T	Pathogenic	Non coding transcript variant, coding sequence variant, 5 prime UTR variant, missense variant
rs104895223	C>A,G,T	Pathogenic, not-provided, uncertain-significance	Non coding transcript variant, 5 prime UTR variant, intron variant, coding sequence variant, missense variant
rs104895224	C>G,T	Pathogenic, not-provided	Non coding transcript variant, coding sequence variant, 5 prime UTR variant, missense variant
rs104895225	A>C	Pathogenic, likely-pathogenic	Non coding transcript variant, 5 prime UTR variant, intron variant, coding sequence variant, missense variant
rs104895228	A>C,G,T	Pathogenic, not-provided	Non coding transcript variant, coding sequence variant, 5 prime UTR variant, missense variant
rs104895232	A>G	Likely-pathogenic	Non coding transcript variant, coding sequence variant, 5 prime UTR variant, missense variant
rs104895245	A>C,G	Likely-pathogenic, not-provided, uncertain-significance	Non coding transcript variant, coding sequence variant, 5 prime UTR variant, missense variant
rs104895247	A>G,T	Pathogenic, not-provided, uncertain-significance	Coding sequence variant, intron variant, missense variant
rs104895253	A>G	Likely-pathogenic, not-provided	Non coding transcript variant, coding sequence variant, 5 prime UTR variant, missense variant
rs104895271	A>C,G	Likely-benign, pathogenic, likely-pathogenic	Synonymous variant, non coding transcript variant, 5 prime UTR variant, intron variant, coding sequence variant, missense variant
rs104895276	G>A,C	Likely-pathogenic	Non coding transcript variant, coding sequence variant, 5 prime UTR variant, missense variant
rs200900510	C>T	Benign, pathogenic, conflicting-interpretations-of-pathogenicity	Missense variant, non coding transcript variant, coding sequence variant
rs756455040	G>T	Conflicting-interpretations-of-pathogenicity	Non coding transcript variant, synonymous variant, coding sequence variant
rs876661014	G>C	Uncertain-significance, likely-pathogenic	5 prime UTR variant, coding sequence variant, non coding transcript variant, missense variant
rs876661031	C>T	Likely-pathogenic	5 prime UTR variant, coding sequence variant, non coding transcript variant, missense variant
rs886039866	G>A	Pathogenic	5 prime UTR variant, coding sequence variant, non coding transcript variant, missense variant
rs1555108112	C>G,T	Likely-pathogenic	Missense variant, non coding transcript variant, 5 prime UTR variant, coding sequence variant
rs1592047560	->TGTGTCTTGCAC	Pathogenic	5 prime UTR variant, coding sequence variant, non coding transcript variant, inframe insertion

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Show/Hide all (127)

miRTarBase ID	miRNA	Experiments	Reference
MIRT051697	hsa-let-7e-5p	CLASH	23622248
MIRT1443001	hsa-miR-1197	CLIP-seq
MIRT1443002	hsa-miR-1266	CLIP-seq
MIRT1443003	hsa-miR-194	CLIP-seq
MIRT1443004	hsa-miR-1973	CLIP-seq
MIRT1443005	hsa-miR-198	CLIP-seq
MIRT1443006	hsa-miR-218	CLIP-seq
MIRT1443007	hsa-miR-24	CLIP-seq
MIRT1443008	hsa-miR-2467-3p	CLIP-seq
MIRT1443009	hsa-miR-296-5p	CLIP-seq
MIRT1443010	hsa-miR-297	CLIP-seq
MIRT1443011	hsa-miR-29a	CLIP-seq
MIRT1443012	hsa-miR-29b	CLIP-seq
MIRT1443013	hsa-miR-29c	CLIP-seq
MIRT1443014	hsa-miR-3117-3p	CLIP-seq
MIRT1443015	hsa-miR-3189-5p	CLIP-seq
MIRT1443016	hsa-miR-3591-5p	CLIP-seq
MIRT1443017	hsa-miR-3616-3p	CLIP-seq
MIRT1443018	hsa-miR-4267	CLIP-seq
MIRT1443019	hsa-miR-4270	CLIP-seq
MIRT1443020	hsa-miR-4280	CLIP-seq
MIRT1443021	hsa-miR-4433	CLIP-seq
MIRT1443022	hsa-miR-4441	CLIP-seq
MIRT1443023	hsa-miR-4480	CLIP-seq
MIRT1443024	hsa-miR-4493	CLIP-seq
MIRT1443025	hsa-miR-4514	CLIP-seq
MIRT1443026	hsa-miR-4518	CLIP-seq
MIRT1443027	hsa-miR-455-5p	CLIP-seq
MIRT1443028	hsa-miR-4645-5p	CLIP-seq
MIRT1443029	hsa-miR-4673	CLIP-seq
MIRT1443030	hsa-miR-4692	CLIP-seq
MIRT1443031	hsa-miR-491-3p	CLIP-seq
MIRT1443032	hsa-miR-501-3p	CLIP-seq
MIRT1443033	hsa-miR-502-3p	CLIP-seq
MIRT1443034	hsa-miR-567	CLIP-seq
MIRT1443035	hsa-miR-590-3p	CLIP-seq
MIRT1443036	hsa-miR-636	CLIP-seq
MIRT1443037	hsa-miR-766	CLIP-seq
MIRT1443001	hsa-miR-1197	CLIP-seq
MIRT2132578	hsa-miR-1205	CLIP-seq
MIRT2132579	hsa-miR-1225-3p	CLIP-seq
MIRT2132580	hsa-miR-1233	CLIP-seq
MIRT2132581	hsa-miR-1286	CLIP-seq
MIRT1443004	hsa-miR-1973	CLIP-seq
MIRT1443010	hsa-miR-297	CLIP-seq
MIRT1443014	hsa-miR-3117-3p	CLIP-seq
MIRT2132582	hsa-miR-3155	CLIP-seq
MIRT2132583	hsa-miR-3155b	CLIP-seq
MIRT2132584	hsa-miR-3180-5p	CLIP-seq
MIRT2132585	hsa-miR-3183	CLIP-seq
MIRT1443015	hsa-miR-3189-5p	CLIP-seq
MIRT1443016	hsa-miR-3591-5p	CLIP-seq
MIRT2132586	hsa-miR-4251	CLIP-seq
MIRT2132587	hsa-miR-4253	CLIP-seq
MIRT1443018	hsa-miR-4267	CLIP-seq
MIRT1443020	hsa-miR-4280	CLIP-seq
MIRT2132588	hsa-miR-4467	CLIP-seq
MIRT1443024	hsa-miR-4493	CLIP-seq
MIRT1443025	hsa-miR-4514	CLIP-seq
MIRT1443027	hsa-miR-455-5p	CLIP-seq
MIRT2132589	hsa-miR-4667-3p	CLIP-seq
MIRT1443030	hsa-miR-4692	CLIP-seq
MIRT2132590	hsa-miR-4722-5p	CLIP-seq
MIRT2132591	hsa-miR-4723-3p	CLIP-seq
MIRT2132592	hsa-miR-484	CLIP-seq
MIRT2132593	hsa-miR-510	CLIP-seq
MIRT2132594	hsa-miR-520a-5p	CLIP-seq
MIRT2132595	hsa-miR-525-5p	CLIP-seq
MIRT2132596	hsa-miR-526b	CLIP-seq
MIRT2132597	hsa-miR-539	CLIP-seq
MIRT1443034	hsa-miR-567	CLIP-seq
MIRT1443035	hsa-miR-590-3p	CLIP-seq
MIRT1443037	hsa-miR-766	CLIP-seq
MIRT2132598	hsa-miR-937	CLIP-seq
MIRT2132599	hsa-miR-943	CLIP-seq
MIRT1443001	hsa-miR-1197	CLIP-seq
MIRT1443004	hsa-miR-1973	CLIP-seq
MIRT1443005	hsa-miR-198	CLIP-seq
MIRT1443008	hsa-miR-2467-3p	CLIP-seq
MIRT1443010	hsa-miR-297	CLIP-seq
MIRT1443011	hsa-miR-29a	CLIP-seq
MIRT1443012	hsa-miR-29b	CLIP-seq
MIRT1443013	hsa-miR-29c	CLIP-seq
MIRT1443014	hsa-miR-3117-3p	CLIP-seq
MIRT1443015	hsa-miR-3189-5p	CLIP-seq
MIRT1443016	hsa-miR-3591-5p	CLIP-seq
MIRT1443017	hsa-miR-3616-3p	CLIP-seq
MIRT2132586	hsa-miR-4251	CLIP-seq
MIRT1443018	hsa-miR-4267	CLIP-seq
MIRT1443020	hsa-miR-4280	CLIP-seq
MIRT2132588	hsa-miR-4467	CLIP-seq
MIRT1443024	hsa-miR-4493	CLIP-seq
MIRT1443025	hsa-miR-4514	CLIP-seq
MIRT1443028	hsa-miR-4645-5p	CLIP-seq
MIRT1443029	hsa-miR-4673	CLIP-seq
MIRT1443030	hsa-miR-4692	CLIP-seq
MIRT1443031	hsa-miR-491-3p	CLIP-seq
MIRT1443032	hsa-miR-501-3p	CLIP-seq
MIRT1443033	hsa-miR-502-3p	CLIP-seq
MIRT2132597	hsa-miR-539	CLIP-seq
MIRT1443034	hsa-miR-567	CLIP-seq
MIRT2353570	hsa-miR-621	CLIP-seq
MIRT1443037	hsa-miR-766	CLIP-seq
MIRT2132599	hsa-miR-943	CLIP-seq
MIRT1443001	hsa-miR-1197	CLIP-seq
MIRT1443004	hsa-miR-1973	CLIP-seq
MIRT1443014	hsa-miR-3117-3p	CLIP-seq
MIRT1443015	hsa-miR-3189-5p	CLIP-seq
MIRT1443018	hsa-miR-4267	CLIP-seq
MIRT1443024	hsa-miR-4493	CLIP-seq
MIRT1443025	hsa-miR-4514	CLIP-seq
MIRT1443030	hsa-miR-4692	CLIP-seq
MIRT1443037	hsa-miR-766	CLIP-seq
MIRT2434217	hsa-miR-3613-3p	CLIP-seq
MIRT1443031	hsa-miR-491-3p	CLIP-seq
MIRT1443032	hsa-miR-501-3p	CLIP-seq
MIRT1443033	hsa-miR-502-3p	CLIP-seq
MIRT2434218	hsa-miR-548a-3p	CLIP-seq
MIRT2434219	hsa-miR-548ac	CLIP-seq
MIRT2434220	hsa-miR-548ae	CLIP-seq
MIRT2434221	hsa-miR-548aj	CLIP-seq
MIRT2434222	hsa-miR-548am	CLIP-seq
MIRT2434223	hsa-miR-548d-3p	CLIP-seq
MIRT2434224	hsa-miR-548e	CLIP-seq
MIRT2434225	hsa-miR-548f	CLIP-seq
MIRT2434226	hsa-miR-548x	CLIP-seq
MIRT2434227	hsa-miR-548z	CLIP-seq

Show/Hide all (84)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000139	Component	Golgi membrane	IDA	22801493
GO:0000139	Component	Golgi membrane	IEA
GO:0002947	Component	Tumor necrosis factor receptor superfamily complex	TAS	24966471
GO:0003176	Process	Aortic valve development	IEA
GO:0003176	Process	Aortic valve development	ISS
GO:0003177	Process	Pulmonary valve development	IEA
GO:0003177	Process	Pulmonary valve development	ISS
GO:0003332	Process	Negative regulation of extracellular matrix constituent secretion	IEA
GO:0003332	Process	Negative regulation of extracellular matrix constituent secretion	ISS
GO:0005031	Function	Tumor necrosis factor receptor activity	IBA
GO:0005031	Function	Tumor necrosis factor receptor activity	IDA	26183779
GO:0005031	Function	Tumor necrosis factor receptor activity	IEA
GO:0005031	Function	Tumor necrosis factor receptor activity	TAS	2158863
GO:0005515	Function	Protein binding	IPI	2848815, 7758105, 8565075, 8943045, 8985253, 9115275, 10848577, 11684708, 12887920, 14743216, 15465831, 16611992, 18022363, 19524513, 19641494, 19781631, 20080539, 20103630, 22028622, 22817896, 23955153, 24070898, 24130170, 24440909, 25241761, 25911380, 33961781, 36179048
GO:0005576	Component	Extracellular region	IEA
GO:0005576	Component	Extracellular region	NAS	12189246
GO:0005576	Component	Extracellular region	TAS	1698610
GO:0005615	Component	Extracellular space	IDA	13130484
GO:0005794	Component	Golgi apparatus	IEA
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS	1698610
GO:0006366	Process	Transcription by RNA polymerase II	IEA
GO:0006693	Process	Prostaglandin metabolic process	IEA
GO:0006915	Process	Apoptotic process	IEA
GO:0006952	Process	Defense response	IEA
GO:0006954	Process	Inflammatory response	IBA
GO:0006954	Process	Inflammatory response	IEA
GO:0006954	Process	Inflammatory response	IEA
GO:0006954	Process	Inflammatory response	ISS
GO:0007165	Process	Signal transduction	IEA
GO:0007166	Process	Cell surface receptor signaling pathway	IEA
GO:0007259	Process	Cell surface receptor signaling pathway via JAK-STAT	IMP	21410936
GO:0008625	Process	Extrinsic apoptotic signaling pathway via death domain receptors	TAS	8612133
GO:0008630	Process	Intrinsic apoptotic signaling pathway in response to DNA damage	IEA
GO:0009986	Component	Cell surface	IDA	22801493
GO:0009986	Component	Cell surface	IEA
GO:0010468	Process	Regulation of gene expression	IEA
GO:0010557	Process	Positive regulation of macromolecule biosynthetic process	IEA
GO:0010614	Process	Negative regulation of cardiac muscle hypertrophy	IEA
GO:0010803	Process	Regulation of tumor necrosis factor-mediated signaling pathway	IEA
GO:0016020	Component	Membrane	IEA
GO:0016020	Component	Membrane	TAS	24966471
GO:0019221	Process	Cytokine-mediated signaling pathway	IEA
GO:0019221	Process	Cytokine-mediated signaling pathway	ISS
GO:0033209	Process	Tumor necrosis factor-mediated signaling pathway	IDA	7758105, 11907583
GO:0033209	Process	Tumor necrosis factor-mediated signaling pathway	IEA
GO:0033209	Process	Tumor necrosis factor-mediated signaling pathway	IEP	12761501
GO:0033209	Process	Tumor necrosis factor-mediated signaling pathway	IMP	21410936, 25816133
GO:0033209	Process	Tumor necrosis factor-mediated signaling pathway	ISS
GO:0033209	Process	Tumor necrosis factor-mediated signaling pathway	TAS	24966471
GO:0034250	Process	Positive regulation of amide metabolic process	IEA
GO:0038023	Function	Signaling receptor activity	IEA
GO:0038023	Function	Signaling receptor activity	ISS
GO:0038061	Process	Non-canonical NF-kappaB signal transduction	IDA	8565075
GO:0042742	Process	Defense response to bacterium	IEA
GO:0043120	Function	Tumor necrosis factor binding	IBA
GO:0043120	Function	Tumor necrosis factor binding	IPI	9435233
GO:0043123	Process	Positive regulation of canonical NF-kappaB signal transduction	IEA
GO:0043123	Process	Positive regulation of canonical NF-kappaB signal transduction	IEP	12761501
GO:0043123	Process	Positive regulation of canonical NF-kappaB signal transduction	IMP	15121867
GO:0043123	Process	Positive regulation of canonical NF-kappaB signal transduction	TAS	18309324
GO:0043235	Component	Receptor complex	IBA
GO:0043235	Component	Receptor complex	IDA	23382219
GO:0045121	Component	Membrane raft	IBA
GO:0045121	Component	Membrane raft	IDA	17010968
GO:0045121	Component	Membrane raft	IEA
GO:0045834	Process	Positive regulation of lipid metabolic process	IEA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IEA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IMP	21410936
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	ISS
GO:0050728	Process	Negative regulation of inflammatory response	IMP	13130484
GO:0050729	Process	Positive regulation of inflammatory response	IEA
GO:0050729	Process	Positive regulation of inflammatory response	ISS
GO:0050793	Process	Regulation of developmental process	IEA
GO:0051239	Process	Regulation of multicellular organismal process	IEA
GO:0071260	Process	Cellular response to mechanical stimulus	IEP	19593445
GO:0072659	Process	Protein localization to plasma membrane	IMP	25816133
GO:0097190	Process	Apoptotic signaling pathway	IDA	8565075
GO:1900119	Process	Positive regulation of execution phase of apoptosis	IEA
GO:1902339	Process	Positive regulation of apoptotic process involved in morphogenesis	IEA
GO:1902339	Process	Positive regulation of apoptotic process involved in morphogenesis	ISS
GO:1903140	Process	Regulation of establishment of endothelial barrier	IMP	25816133
GO:1905038	Process	Regulation of membrane lipid metabolic process	IEA

MIM	HGNC	e!Ensembl
191190	11916	ENSG00000067182

P19438

Protein name

Tumor necrosis factor receptor superfamily member 1A (Tumor necrosis factor receptor 1) (TNF-R1) (Tumor necrosis factor receptor type I) (TNF-RI) (TNFR-I) (p55) (p60) (CD antigen CD120a) [Cleaved into: Tumor necrosis factor receptor superfamily member 1A,

Protein function

Receptor for TNFSF2/TNF-alpha and homotrimeric TNFSF1/lymphotoxin-alpha. The adapter molecule FADD recruits caspase-8 to the activated receptor. The resulting death-inducing signaling complex (DISC) performs caspase-8 proteolytic activation whic

PDB

1EXT , 1FT4 , 1ICH , 1NCF , 1TNR , 7K7A , 7KP7 , 7KP8 , 7KPB , 8P6Q

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00020	TNFR_c6	44 → 81	TNFR/NGFR cysteine-rich region	Domain
PF00020	TNFR_c6	84 → 125	TNFR/NGFR cysteine-rich region	Domain
PF00020	TNFR_c6	127 → 166	TNFR/NGFR cysteine-rich region	Domain
PF00531	Death	356 → 441	Death domain	Domain

Sequence

MGLSTVPDLLLPLVLLELLVGIYPSGVIGLVPHLGDREKRDSVCPQGKYIHPQNNSICCT
KCHKGTYLYNDCPGPGQDTDCRECESGSFTASENHLRHCLSCSKCRKEMGQVEISSCTVD
RDTVCGCRKNQYRHYWSENLFQCFNCSLCLNGTVHLSCQEKQNTVCTCHAGFFLRENECV
SCSNCKKSLECTKLCLPQIENVKGTEDSGTTVLLPLVIFFGLCLLSLLFIGLMYRYQRWK
SKLYSIVCGKSTPEKEGELEGTTTKPLAPNPSFSPTPGFTPTLGFSPVPSSTFTSSSTYT
PGDCPNFAAPRREVAPPYQGADPILATALASDPIPNPLQKWEDSAHKPQSLDTDDPATLY
AVVENVPPLRWKEFVRRLGLSDHEIDRLELQNGRCLREAQYSMLATWRRRTPRREATLEL
LGRVLRDMDLLGCLEDIEEALCGPAALPPAPSLLR

Sequence length

455

Interactions

View interactions

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)

Show/Hide Causal Diseases (6)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Autoinflammatory syndrome	Likely pathogenic; Pathogenic	rs104895271, rs104895238, rs104895252	RCV002262667 RCV002262668 RCV002264542	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Behcet disease	Pathogenic	rs886039866	RCV000258049	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
CHARGE syndrome	Pathogenic	rs1592047560	RCV000984328	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Multiple sclerosis	Pathogenic	rs104895219	RCV004798724	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
TNF receptor-associated periodic fever syndrome (TRAPS)	Likely pathogenic; Pathogenic	rs104895271, rs104895227, rs104895230, rs104895238, rs104895252, rs104895232, rs104895253, rs104895224, rs104895228, rs104895249, rs104895276, rs104895242, rs104895287, rs104895247, rs2136823066 View all (11 more)	RCV000083896 RCV000083899 RCV000083904 RCV000083916 RCV000083917 View all (24 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
TNFRSF1A-related disorder	Likely pathogenic; Pathogenic	rs104895271	RCV004754299	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (47)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
ANKYLOSING SPONDYLITIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANKYLOSING SPONDYLITIS AND OTHER INFLAMMATORY SPONDYLOPATHIES	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANOREXIA	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Associated with severe COVID-19 disease	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOIMMUNE DISEASES	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BEHCET SYNDROME	—	Disgenet	★★★★★ ★★☆☆☆ 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
BRAIN INJURIES	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BRAIN ISCHEMIA	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CACHEXIA	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGESTIVE HEART FAILURE	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CROHN'S DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CYSTIC FIBROSIS	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEPRESSIVE DISORDER	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETES MELLITUS, EXPERIMENTAL	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETES MELLITUS, NON-INSULIN-DEPENDENT	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETES MELLITUS, TYPE 2	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial Periodic Fever	Uncertain significance; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FEBRILE CONVULSIONS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Febrile seizure (within the age range of 3 months to 6 years)	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEART FAILURE	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatosplenomegaly	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPEROXIA	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERSENSITIVITY	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
IGA GLOMERULONEPHRITIS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INTERMITTENT HYDRARTHROSIS	—	Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LIVER CIRRHOSIS, BILIARY	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MENTAL DEPRESSION	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Multiple sclerosis, susceptibility to, 5	Conflicting classifications of pathogenicity; Benign; 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
RHEUMATOID ARTHRITIS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCLEROSING CHOLANGITIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Susceptibility to severe coronavirus disease (COVID-19)	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Susceptibility to severe coronavirus disease (COVID-19) due to high plasma levels of TNF, TNFR, and/or TNFR6	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Susceptibility to severe coronavirus disease (COVID-19) due to high plasma levels of TNF, TNFR, and/or TNFR7	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ULCERATIVE COLITIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
UVEITIS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (450)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
AA amyloidosis	AA amyloidosis	BEFREE	11318938, 12105243, 15071491, 15316120		★★★★★ ★☆☆☆☆ Found in Text Mining only
Acute Inflammatory Demyelinating Polyneuropathy	Inflammatory Demyelinating Polyneuropathy	BEFREE	18717726		★★★★★ ★☆☆☆☆ Found in Text Mining only
Acute lymphocytic leukemia	Lymphocytic Leukemia	BEFREE	2243505		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adenocarcinoma	Adenocarcinoma	BEFREE	15146559, 29985074		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	BEFREE	9685865		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adult T-Cell Lymphoma/Leukemia	T-Cell Lymphoma/Leukemia	BEFREE	11163081		★★★★★ ★☆☆☆☆ Found in Text Mining only
Alveolitis Extrinsic Allergic	Extrinsic allergic alveolitis	Pubtator	15929959	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	20110607, 24685635, 26621834	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Ameloblastoma	Ameloblastoma	LHGDN	12147741		★★★★★ ★☆☆☆☆ Found in Text Mining only
Amyloid nephropathy	Amyloid Nephropathy	BEFREE	12105243, 12832748		★★★★★ ★☆☆☆☆ Found in Text Mining only
Amyloidosis	Amyloidosis	Pubtator	11443543, 12209523, 16308343, 36752501	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Amyloidosis	Amyloidosis	LHGDN	12105243		★★★★★ ★☆☆☆☆ Found in Text Mining only
Amyloidosis	Amyloidosis	BEFREE	15570662, 16308343, 29472246		★★★★★ ★☆☆☆☆ Found in Text Mining only
Amyloidosis	Amyloidosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis	Amyotrophic Lateral Sclerosis	LHGDN	18083240		★★★★★ ★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis	Amyotrophic Lateral Sclerosis	BEFREE	27288458		★★★★★ ★☆☆☆☆ Found in Text Mining only
Anemia	Anemia	BEFREE	16142859		★★★★★ ★☆☆☆☆ Found in Text Mining only
Anemia	Anemia	LHGDN	16142859		★★★★★ ★☆☆☆☆ Found in Text Mining only
Anemia Aplastic	Aplastic anemia	Pubtator	12100146	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Anemia Sickle Cell	Sickle cell anemia	Pubtator	21264913	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Anemia, Sickle Cell	Anemia	LHGDN	15586174		★★★★★ ★☆☆☆☆ Found in Text Mining only
Anemia, Sickle Cell	Anemia	BEFREE	21264913		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ankylosing spondylitis	Ankylosing Spondylitis	BEFREE	15818694, 19772798, 20595269, 21068102, 21743469, 21789618, 22272576, 28116820, 28363009, 29535371, 30075559, 30208882		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ankylosing spondylitis	Ankylosing Spondylitis	GWASCAT_DG	23749187, 26974007		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Anorexia	Anorexia	CTD_human_DG	18801959		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Anterior uveitis	Uveitis	LHGDN	15851552		★★★★★ ★☆☆☆☆ Found in Text Mining only
Aortic Aneurysm Abdominal	Aortic aneurysm	Pubtator	10709065	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Aortic Aneurysm Thoracic	Thoracic aortic aneurysm	Pubtator	29158612	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Arteriosclerosis	Arteriosclerosis	BEFREE	20421368, 23249640, 30287518, 30292879		★★★★★ ★☆☆☆☆ Found in Text Mining only
Arteriosclerosis	Arteriosclerosis	Pubtator	23249640	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Arthralgia	Arthralgia	Pubtator	11443543, 17665448	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Arthritis	Arthritis	Pubtator	11953985, 17234651, 17665448	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Arthritis	Arthritis	BEFREE	16947419, 28326455, 28826781, 29339199, 29618659, 9324021		★★★★★ ★☆☆☆☆ Found in Text Mining only
Arthritis	Arthritis	LHGDN	18415772		★★★★★ ★☆☆☆☆ Found in Text Mining only
Arthritis	Arthritis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Arthritis Juvenile	Juvenile arthritis	Pubtator	24967817	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	12209507, 14872483, 16277675, 17234651, 17328054, 23494522, 23784528, 24782596, 25436214, 31906244, 7621589	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	16200579, 36012570	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	16951485	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Arthritis, Psoriatic	Psoriatic Arthritis	BEFREE	20886249, 22480748		★★★★★ ★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	Pubtator	21912093, 35473352, 35681430, 36611799	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	BEFREE	25923882		★★★★★ ★☆☆☆☆ Found in Text Mining only
Astrocytoma	Astrocytoma	BEFREE	10769704, 11381677		★★★★★ ★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	LHGDN	14694358		★★★★★ ★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	BEFREE	20421368, 23249640, 30287518, 30292879		★★★★★ ★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	Pubtator	37834170	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
ATRIAL SEPTAL DEFECT 1	Atrial Septal Defect	BEFREE	23269568		★★★★★ ★☆☆☆☆ Found in Text Mining only
Atrial Septal Defects	Atrial Septal Defect	BEFREE	23269568		★★★★★ ★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorders	Autism Spectrum Disorder	BEFREE	23269568		★★★★★ ★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune Diseases	BEFREE	15280569, 15492850, 16447098, 21689905, 23322460, 26071216, 27175635, 29725328, 30206422, 30414969, 30631042, 31363069		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autoimmune Diseases	Autoimmune Diseases	CTD_human_DG	21074606		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autoimmune Diseases	Autoimmune disease	Pubtator	35963536	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autoimmune Lymphoproliferative Syndrome Type 2B	Autoimmune Lymphoproliferative Disorder	BEFREE	30741924		★★★★★ ★☆☆☆☆ Found in Text Mining only
Autoinflammatory disorder	Autoinflammatory Disease	BEFREE	15312137, 19804406, 20071450, 21244762, 23322460, 23894535, 24668260, 25888769		★★★★★ ★☆☆☆☆ Found in Text Mining only
Autoinflammatory disorder	Autoinflammatory Disease	GENOMICS_ENGLAND_DG	17360963		★★★★★ ★☆☆☆☆ Found in Text Mining only
B-Cell Lymphomas	B-Cell Lymphoma	BEFREE	30467847, 31669105		★★★★★ ★☆☆☆☆ Found in Text Mining only
Behcet Syndrome	Behcet Syndrome	BEFREE	15692984, 21385537, 23633568, 30808881		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Behcet Syndrome	Behcet disease	Pubtator	15692984, 30808881	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Behcet Syndrome	Behcet Syndrome	LHGDN	18415772		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Behcet Syndrome	Behcet Syndrome	CLINVAR_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Biliary Atresia	Biliary atresia	Pubtator	36333281	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Biliary cirrhosis	Biliary cirrhosis	GWASCAT_DG	21399635		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
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
Bipolar Disorder	Bipolar disorder	Pubtator	26257203, 35136035	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Blast Phase	Blast phase chronic myelogenous leukemia	BEFREE	10071076		★★★★★ ★☆☆☆☆ Found in Text Mining only
Bloch Sulzberger syndrome	Incontinentia pigmenti syndrome	BEFREE	16399796		★★★★★ ★☆☆☆☆ Found in Text Mining only
Brain Ischemia	Cerebral Ischemia	CTD_human_DG	15829914		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Breast Carcinoma	Breast Carcinoma	BEFREE	18061162, 21523452, 24929677, 25010932, 25332681, 28222663, 28938560, 29103029, 29202842, 29243062, 29552132, 29621649, 30910714		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	16984377, 18606683, 19126655, 21523452, 24929677, 25010932, 25332681, 25928089, 26317411, 29621649, 37041130	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	25332681	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Bronchiolitis	Bronchiolitis	BEFREE	28864214		★★★★★ ★☆☆☆☆ Found in Text Mining only
Bulbo-Spinal Atrophy, X-Linked	Bulbospinal Atrophy, X-Linked	BEFREE	10902757, 12209524		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	23082052	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	16425355	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma of larynx	Laryngeal carcinoma	BEFREE	7509279		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	25152164, 28099148, 28981818, 30191764, 31559061		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Pancreatic Ductal	Pancreatic ductal carcinoma	Pubtator	20808857	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	27362805, 32030920, 38537932	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	19741298, 24511008, 26122654		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiac Tamponade	Cardiac Tamponade	BEFREE	27990755		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	Pubtator	16168288	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiomyopathy, Familial Idiopathic	Cardiomyopathy	BEFREE	8640999		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular Diseases	BEFREE	22088456, 28256549, 31813103		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular disease	Pubtator	29686027	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular disease	Pubtator	30354202	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Castleman Disease	Castleman disease	Pubtator	32303241	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Celiac Disease	Celiac disease	BEFREE	25915602		★★★★★ ★☆☆☆☆ Found in Text Mining only
Celiac Disease	Celiac disease	Pubtator	25915602	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebral Aneurysm	Cerebral Aneurysm	BEFREE	27090970		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebral Infarction	Cerebral Infarction	BEFREE	27586239		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebral Infarction	Ischemic stroke	Pubtator	33918875	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebrovascular accident	Stroke	BEFREE	10777386, 19624167, 28453789		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cholangiocarcinoma	Cholangiocarcinoma	Pubtator	10209503, 19218340	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cholangiocarcinoma	Cholangiocarcinoma	BEFREE	19218340		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cholangitis, Sclerosing	Cholangitis	GWASCAT_DG	26974007		★★★★★ ★☆☆☆☆ Found in Text Mining only
Choriocarcinoma	Choriocarcinoma	BEFREE	8390539		★★★★★ ★☆☆☆☆ Found in Text Mining only
Christ-Siemens-Touraine syndrome	Hypohidrotic Ectodermal Dysplasia, X-Linked	BEFREE	21724465		★★★★★ ★☆☆☆☆ Found in Text Mining only
Chronic Disease	Chronic disease	Pubtator	26931128	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Chronic kidney disease stage 5	Kidney Disease	BEFREE	28256549		★★★★★ ★☆☆☆☆ Found in Text Mining only
Chronic Kidney Diseases	Kidney Disease	BEFREE	28077457, 29122448		★★★★★ ★☆☆☆☆ Found in Text Mining only
Chronic Obstructive Airway Disease	Chronic Obstructive Pulmonary Disease	BEFREE	28864214		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cirrhosis	Cirrhosis	BEFREE	19641466		★★★★★ ★☆☆☆☆ Found in Text Mining only
CNS disorder	CNS Disorder	BEFREE	28300056		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colitis	Colitis	BEFREE	21296062		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colitis Ulcerative	Ulcerative colitis	Pubtator	24379584, 24971461, 28944823, 33608417	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Colitis Ulcerative	Ulcerative colitis	Pubtator	24971461	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	25909160, 8060337		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	25909160		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	25083765	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Common Variable Immunodeficiency	Common variable immunodeficiency	Pubtator	32047491	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Complete atrioventricular block	Complete Atrioventricular Block	BEFREE	11455194		★★★★★ ★☆☆☆☆ Found in Text Mining only
Complete hydatidiform mole	Complete Hydatidiform Mole	BEFREE	9716562		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	CTD_human_DG	16360360		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congestive heart failure	Congestive Heart Failure	BEFREE	19406269, 26004742, 28367848, 28601698, 28710070, 30586716		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Conjunctivitis	Conjunctivitis	Pubtator	11443543	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Conjunctivitis	Conjunctivitis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	BEFREE	20566746		★★★★★ ★☆☆☆☆ Found in Text Mining only
Coronary Arteriosclerosis	Coronary Arteriosclerosis	BEFREE	19103156, 23249640, 29547707, 29686027		★★★★★ ★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	BEFREE	17346438, 19103156, 20421368, 29547707, 29686027		★★★★★ ★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	Pubtator	23249640	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Coronary Disease	Coronary artery disease	Pubtator	29686027	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Coronary heart disease	Coronary Heart Disease	BEFREE	19103156, 29547707, 29686027		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cranial nerve palsies	Cranial Nerve Paralysis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn Disease	BEFREE	12049175, 15842589, 18338763, 21385537, 22801493, 24203631, 24776844, 24971461, 31114134		★★★★★ ★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn Disease	LHGDN	18248655		★★★★★ ★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn disease	Pubtator	24971461, 33608417	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn Disease	GWASCAT_DG	26974007		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cryopyrin-Associated Periodic Syndromes	Cryopyrin-Associated Periodic Syndromes	BEFREE	30418111		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cystic Fibrosis	Cystic fibrosis	Pubtator	11591888, 17697131, 18026571	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cystic Fibrosis	Cystic Fibrosis	BEFREE	16463024		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cystic Fibrosis	Cystic Fibrosis	LHGDN	16463024		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cystic Fibrosis	Cystic Fibrosis	CTD_human_DG	16463024		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cystitis	Cystitis	BEFREE	23273104		★★★★★ ★☆☆☆☆ Found in Text Mining only
Deep Vein Thrombosis	Thrombosis	BEFREE	15692984		★★★★★ ★☆☆☆☆ Found in Text Mining only
Deficiency of mevalonate kinase	Deficiency Of Mevalonate Kinase	BEFREE	15188372, 30686513		★★★★★ ★☆☆☆☆ Found in Text Mining only
Degenerative polyarthritis	Arthritis	BEFREE	12913922, 1320571, 30826358, 31261789		★★★★★ ★☆☆☆☆ Found in Text Mining only
Demyelinating Diseases	Demyelinating Diseases	BEFREE	22994200		★★★★★ ★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	PSYGENET_DG	16458261, 17094069, 21097524, 21194425, 24094876		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Depressive disorder	Mental Depression	BEFREE	17094069, 28453789, 28867280, 30059939, 31352465, 31736187		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Depressive Disorder	Major depressive disorder	Pubtator	27991935	Stimulate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Depressive Disorder Major	Major depressive disorder	Pubtator	27138824	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Dermatitis	Dermatitis	BEFREE	24211183, 30254289, 31609517		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dermatitis, Atopic	Dermatitis	BEFREE	31515807		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dermatologic disorders	Dermatologic Disorders	BEFREE	29596938		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dermatomyositis	Dermatomyositis	Pubtator	36742332	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	10946317, 21689905, 31813103		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Complications	Diabetes complications	Pubtator	10540181, 28367848	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	10946317, 21689905, 28367848, 31813103		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes mellitus	Pubtator	28367848	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	19633828, 36614270	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	28367848, 30598071	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	BEFREE	12559634, 29358494, 31813103, 7926295		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	LHGDN	11882518		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	CTD_human_DG	11882518		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	12898475, 28367848, 29122448, 29358494, 29879997, 30072406, 30333553, 31813103		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetes, Autoimmune	Autoimmune Diabetes	BEFREE	11278441		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetic Angiopathies	Diabetic cardiomyopathy	BEFREE	10997688		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathies	Diabetic neuropathy	Pubtator	32723296	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathies	Diabetic neuropathy	Pubtator	33122288	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathy	Diabetic Nephropathy	BEFREE	27003829, 28476763, 29122448, 30989829, 31207020		★★★★★ ★☆☆☆☆ Found in Text Mining only
Down Syndrome	Down Syndrome	BEFREE	8660983, 8792829		★★★★★ ★☆☆☆☆ Found in Text Mining only
Eczema	Eczema	BEFREE	31515807		★★★★★ ★☆☆☆☆ Found in Text Mining only
Encephalitis	Encephalitis	BEFREE	29472246		★★★★★ ★☆☆☆☆ Found in Text Mining only
Encephalopathies	Epileptic encephalopathy	BEFREE	10421411		★★★★★ ★☆☆☆☆ Found in Text Mining only
Endometrial Neoplasms	Endometrial neoplasm	Pubtator	37233761	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Endometriosis	Endometriosis	LHGDN	18510047		★★★★★ ★☆☆☆☆ Found in Text Mining only
Endometriosis	Endometriosis	BEFREE	19238748, 28992341		★★★★★ ★☆☆☆☆ Found in Text Mining only
Endometriosis	Endometriosis	Pubtator	24844917	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Epilepsy Temporal Lobe	Temporal lobe epilepsy	Pubtator	27006531	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Epilepsy, Temporal Lobe	Epilepsy	BEFREE	27006531		★★★★★ ★☆☆☆☆ Found in Text Mining only
Erysipelas	Erysipelas	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophageal neoplasm	Pubtator	19826638	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Esophageal Squamous Cell Carcinoma	Esophageal squamous cell carcinoma	Pubtator	34995801	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Exanthema	Exanthema	Pubtator	17665448, 21978701, 23965844	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Eye Manifestations	Eye manifestations	Pubtator	23965844	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Familial lichen amyloidosis	Lichen amyloidosis	BEFREE	8899002		★★★★★ ★☆☆☆☆ Found in Text Mining only
Familial Mediterranean Fever	Familial mediterranean fever	Pubtator	11318938, 12209523, 13130485, 20074469, 20506103, 24835548	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Fasciitis	Fasciitis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Fatty Liver	Fatty Liver	BEFREE	18290776, 28929125		★★★★★ ★☆☆☆☆ Found in Text Mining only
Fatty Liver Disease	Fatty Liver	BEFREE	11732005, 28038359, 29684027, 29860102		★★★★★ ★☆☆☆☆ Found in Text Mining only
Fibrocystic Disease of Pancreas	Cystic fibrosis of pancreas	CTD_human_DG	16463024		★★★★★ ★☆☆☆☆ Found in Text Mining only
Fibrosarcoma	Fibrosarcoma	BEFREE	23636687		★★★★★ ★☆☆☆☆ Found in Text Mining only
Gastritis	Gastritis	BEFREE	12011009		★★★★★ ★☆☆☆☆ Found in Text Mining only
Gastroesophageal Reflux	Gastroesophageal reflux disease	Pubtator	21212151	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Gastroesophageal reflux disease	Gastroesophageal Reflux Disease	BEFREE	21212151		★★★★★ ★☆☆☆☆ Found in Text Mining only
GATA2 Deficiency	Gata2 deficiency	Pubtator	32321919	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Glaucoma	Glaucoma	Pubtator	21917936	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	10769704, 11381677, 27858267, 7566386		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	11381677, 22396498, 23538445, 27858267, 30341039, 32326230, 35726234, 38212807	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	10769704, 27858267, 30341039, 7566386		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glomerulonephritis IGA	Iga nephropathy	Pubtator	25860248	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Graft vs Host Disease	Graft-versus-host disease	Pubtator	22469883	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Graft-vs-Host Disease	Graft-Vs-Host Disease	BEFREE	22469883, 31729192		★★★★★ ★☆☆☆☆ Found in Text Mining only
Granulomatosis with polyangiitis	Granulomatosis With Polyangiitis	LHGDN	17693606		★★★★★ ★☆☆☆☆ Found in Text Mining only
Graves Disease	Graves disease	Pubtator	17032245	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hamartoma Syndrome, Multiple	Hamartoma	BEFREE	24203631		★★★★★ ★☆☆☆☆ Found in Text Mining only
Head and Neck Carcinoma	Head And Neck Carcinoma	BEFREE	28401452		★★★★★ ★☆☆☆☆ Found in Text Mining only
Head and Neck Neoplasms	Head and neck neoplasm	Pubtator	28401452	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Headache	Headache	Pubtator	23965844	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Heart failure	Heart Failure	CTD_human_DG	16360360		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Heart failure	Heart Failure	BEFREE	19406269, 26004742, 28367848, 28601698, 28710070, 30586716		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Heart Failure	Heart failure	Pubtator	28367848	Stimulate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Heart Failure	Heart failure	Pubtator	37140510	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Heart Failure, Right-Sided	Heart Failure	CTD_human_DG	16360360		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hematologic Neoplasms	Hematologic neoplasm	Pubtator	11166462	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hemoglobinuria Paroxysmal	Hemoglobinuria paroxysmal	Pubtator	28630090	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hepatic amyloidosis	Hepatic amyloidosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hepatitis C Chronic	Hepatitis c	Pubtator	22577869	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hereditary Autoinflammatory Diseases	Autoinflammatory Disease	GENOMICS_ENGLAND_DG	10199409		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hereditary Autoinflammatory Diseases	Autoinflammatory Disease	BEFREE	15071491, 19547977, 21124859, 24891336		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hereditary hemochromatosis	Hereditary Hemochromatosis	BEFREE	31178742		★★★★★ ★☆☆☆☆ Found in Text Mining only
Histiocytosis, Langerhans-Cell	Histiocytosis	BEFREE	29967185		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hodgkin Disease	Hodgkin Disease	BEFREE	1691591		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hydrocephalus	Hydrocephalus	BEFREE	30673997		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hyperglycemia	Hyperglycemia	Pubtator	28655972	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hyperglycemia	Hyperglycemia	BEFREE	29135052		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hyperhomocysteinemia	Hyperhomocysteinemia	BEFREE	29797117		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hyperimmunoglobulinemia D	Hyperimmunoglobulinemia	BEFREE	11014353, 12452839, 15188372, 30418111		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hyperinsulinism	Hyperinsulinism	LHGDN	12690082		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hyperlipidemia, Familial Combined	Hyperlipidemia	BEFREE	16054550		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypertension, Renovascular	Hypertension	BEFREE	30358805		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	BEFREE	23337087, 28797835		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	23122428	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Idiopathic Membranous Glomerulonephritis	Membranous Glomerulonephritis	BEFREE	29340080		★★★★★ ★☆☆☆☆ Found in Text Mining only
Idiopathic Pulmonary Fibrosis	Pulmonary Fibrosis	BEFREE	21144722		★★★★★ ★☆☆☆☆ Found in Text Mining only
Immune System Diseases	Immune system disease	Pubtator	10445626	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Immunologic Deficiency Syndromes	Immunologic Deficiency Syndromes	BEFREE	16846982		★★★★★ ★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	BEFREE	29472246, 31555121		★★★★★ ★☆☆☆☆ Found in Text Mining only
Incontinentia Pigmenti Achromians	Incontinentia Pigmenti Achromians	BEFREE	20646338		★★★★★ ★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory Bowel Disease	BEFREE	15274667, 18338763, 27417569		★★★★★ ★☆☆☆☆ Found in Text Mining only
Inflammatory dermatosis	Dermatitis	BEFREE	24211183, 31609517		★★★★★ ★☆☆☆☆ Found in Text Mining only
Insulin Resistance	Diabetes mellitus, type 2	Pubtator	19633828, 21047923	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Intermittent hydrarthrosis	Intermittent Hydrarthrosis	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intermittent joint effusion	Intermittent Joint Effusion	ORPHANET_DG	22887853		★★★★★ ★☆☆☆☆ Found in Text Mining only
Intervertebral Disc Degeneration	Intervertebral disc disease	Pubtator	31140325	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Intestinal Diseases	Intestinal Diseases	BEFREE	15274667		★★★★★ ★☆☆☆☆ Found in Text Mining only
Intestinal Obstruction	Intestinal Obstruction	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Intracranial Aneurysm	Intracranial Aneurysm	BEFREE	24685329		★★★★★ ★☆☆☆☆ Found in Text Mining only
Iron deficiency anemia	Iron deficiency anemia	BEFREE	16142859		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ischemic stroke	Ischemic Stroke	BEFREE	29285302		★★★★★ ★☆☆☆☆ Found in Text Mining only
Juvenile arthritis	Arthritis	BEFREE	15071491, 17075277		★★★★★ ★☆☆☆☆ Found in Text Mining only
Juvenile arthritis	Arthritis	LHGDN	17075277		★★★★★ ★☆☆☆☆ Found in Text Mining only
Keratoconus	Keratoconus	BEFREE	28702675		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ki-1+ Anaplastic Large Cell Lymphoma	Anaplastic Lymphoma	BEFREE	16198418		★★★★★ ★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney Disease	BEFREE	27003829, 28389814, 28601698, 29122448, 29367427, 31813103		★★★★★ ★☆☆☆☆ Found in Text Mining only
Kidney Failure Chronic	Kidney failure	Pubtator	21873362	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Kidney Failure, Chronic	Kidney Failure	BEFREE	28256549		★★★★★ ★☆☆☆☆ Found in Text Mining only
Laryngeal Neoplasms	Laryngeal neoplasm	Pubtator	7509279	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Laryngeal Squamous Cell Carcinoma	Laryngeal Carcinoma	BEFREE	26914121		★★★★★ ★☆☆☆☆ Found in Text Mining only
Left-Sided Heart Failure	Heart Failure	CTD_human_DG	16360360		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia	Leukemia	Pubtator	21820422, 7994039, 8381309	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia Hairy Cell	Hairy cell leukemia	Pubtator	8381309	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	1382704, 27098354	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia, Large Granular Lymphocytic	Lymphoblastic Leukemia	BEFREE	1835747, 2146981		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	27869161, 8445947		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia, T-Cell	T-cell leukemia	BEFREE	12149223		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukomalacia, Periventricular	Periventricular Leukomalacia	BEFREE	28406931		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lip and Oral Cavity Carcinoma	Lip and Oral Cavity Carcinoma	BEFREE	18206417		★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	11108802, 18243134, 19054267, 19800575, 22911714, 28070612, 30712649		★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis	Liver Cirrhosis	BEFREE	19641466		★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver Diseases	Liver disease	Pubtator	16425355, 29915336	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver neoplasms	Liver neoplasms	BEFREE	11108802, 22911714, 28628031		★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver Neoplasms	Liver neoplasm	Pubtator	26301107	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lung diseases	Lung Diseases	BEFREE	16463024		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lung Diseases Interstitial	Lung disease	Pubtator	15929959, 21144722, 33080140	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lung Diseases, Interstitial	Lung Diseases	BEFREE	21144722		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	19448410, 23122428, 28099148, 30989732	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus Cutaneous	Cutaneous lupus erythematosus	Pubtator	15692985	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus Systemic	Systemic lupus erythematosus	Pubtator	24835548, 25762184, 31007604, 36946374	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Systemic	Lupus Erythematosus	BEFREE	1472125, 15280569, 15492850, 20516030, 22847298, 31046570		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lupus Nephritis	Lupus Nephritis	BEFREE	31046570		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphadenitis	Lymphadenitis	BEFREE	21225694		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	25010932, 26113409	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphohistiocytosis Hemophagocytic	Hemophagocytic lymphohistiocytosis	Pubtator	17456766	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphohistiocytosis, Hemophagocytic	Lymphohistiocytosis	BEFREE	18566478		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphoma, Large-Cell, Follicular	Lymphoma	BEFREE	21063024		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphoma, Non-Hodgkin	Non-Hodgkin lymphoma	BEFREE	21063024		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphoma, Non-Hodgkin, Familial	Lymphoma	BEFREE	21063024		★★★★★ ★☆☆☆☆ Found in Text Mining only
Macrophage Activation Syndrome	Macrophage Activation Syndrome	BEFREE	31449879		★★★★★ ★☆☆☆☆ Found in Text Mining only
Major Depressive Disorder	Mental Depression	BEFREE	28384542, 30059939, 30503506		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malformations of Cortical Development	Cortical development malformation	Pubtator	34359880	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Bone Neoplasm	Malignant Bone Neoplasm	BEFREE	30717619		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Head and Neck Neoplasm	Head and neck cancer	BEFREE	28401452		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	18061162, 21523452, 24929677, 25010932, 25332681, 28222663, 28938560, 29103029, 29202842, 29243062, 29552132, 29621649, 30910714		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of liver	Liver Cancer	BEFREE	17901709		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	25152164, 28099148, 28981818, 30191764, 31559061		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	19741298, 26122654		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	9563482		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	11340636, 29552132		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	23975421, 31040894		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	19347278, 19516260, 20646319, 23109837, 25255422, 26076811, 28628031, 29233887, 29985074, 31040894, 7485723		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	25909160, 8060337		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malnutrition	Malnutrition	BEFREE	11588035		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	BEFREE	29621649, 9840926		★★★★★ ★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	10318823, 23490134, 35580697, 35879777	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mental Depression	Mental Depression	PSYGENET_DG	16458261, 17094069, 21097524, 21194425, 24094876		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mental Depression	Mental Depression	BEFREE	17094069, 28453789, 28867280, 30059939, 31352465, 31736187		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Metabolic Syndrome	Metabolic syndrome	Pubtator	31816875	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Metabolic Syndrome X	Metabolic Syndrome	BEFREE	17200772, 18758745		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mevalonate Kinase Deficiency	Mevalonate kinase deficiency	Pubtator	15188372	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Migraine Disorders	Migraine	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Mild cognitive disorder	Cognitive disorder	BEFREE	31555121		★★★★★ ★☆☆☆☆ Found in Text Mining only
Miscarriage	Miscarriage	BEFREE	17686637, 22131390		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mitochondrial Diseases	Mitochondrial disease	Pubtator	28584150, 34852799	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Mitral Valve Stenosis	Mitral Valve Stenosis	BEFREE	10227645		★★★★★ ★☆☆☆☆ Found in Text Mining only
Muckle-Wells Syndrome	Muckle-Wells Syndrome	BEFREE	11014353, 12832748		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mucocutaneous Lymph Node Syndrome	Kawasaki disease	BEFREE	10902757, 12209524, 21315128		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mucosa-Associated Lymphoid Tissue Lymphoma	Mucosa-associated lymphoma	BEFREE	15146559		★★★★★ ★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	Pubtator	11443543, 21850048, 31406107	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple Sclerosis	BEFREE	10227645, 11598334, 19029521, 19525953, 19794511, 20430450, 20876156, 21552549, 21565411, 21567205, 22059991, 22801493, 22994200, 23322460, 23624563 View all (15 more)		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Multiple Sclerosis	Multiple sclerosis	Pubtator	17665448, 19525953, 21552549, 22059991, 22801493, 24130709, 24130718, 24278027, 26062845, 29034884, 31810488, 32355262, 32563262, 33608417, 34488019, 35963536, 8833901 View all (2 more)	Associate	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Multiple Sclerosis	Multiple Sclerosis	GWASCAT_DG	19525953, 21833088, 24076602, 27386562		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Multiple Sclerosis	Multiple Sclerosis	CTD_human_DG	19525953, 24076602		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Multiple Sclerosis	Multiple Sclerosis	GWASDB_DG	19525953, 21833088		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Multiple Sclerosis, Acute Fulminating	Multiple Sclerosis	CTD_human_DG	19525953, 24076602		★★★★★ ★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis, Relapsing-Remitting	Multiple Sclerosis	BEFREE	19246939		★★★★★ ★☆☆☆☆ Found in Text Mining only
Muscular Dystrophy Duchenne	Duchenne muscular dystrophy	Pubtator	32303241	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Mycosis Fungoides	Mycosis fungoides	Pubtator	12689942	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
MYELODYSPLASTIC SYNDROME	Myelodysplastic Syndrome	LHGDN	14728878		★★★★★ ★☆☆☆☆ Found in Text Mining only
Myelodysplastic Syndromes	Myelodysplastic syndrome	Pubtator	12100146	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Myeloid Leukemia, Chronic	Myeloid Leukemia	BEFREE	10071076		★★★★★ ★☆☆☆☆ Found in Text Mining only
Myocardial Failure	Myocardial Infarction	CTD_human_DG	16360360		★★★★★ ★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial Infarction	BEFREE	14694358, 28453789, 28601698, 29547707, 30586716		★★★★★ ★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial infarction	Pubtator	35432334	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Myocardial Ischemia	Myocardial ischemia	Pubtator	18765230	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Myocardial Ischemia	Myocardial Ischemia	BEFREE	8640999		★★★★★ ★☆☆☆☆ Found in Text Mining only
Myositis	Myositis	BEFREE	10902757		★★★★★ ★☆☆☆☆ Found in Text Mining only
Myositis	Myositis	Pubtator	10902757, 24965843	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Myositis	Myositis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Myotonic Dystrophy	Myotonic dystrophy	Pubtator	15217754	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Narcolepsy	Narcolepsy	BEFREE	12601524		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nasal Polyps	Nasal polyposis	BEFREE	19095579		★★★★★ ★☆☆☆☆ Found in Text Mining only
Necrosis	Necrosis	Pubtator	16611992, 28765050	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	10753499, 11733907, 20532935, 22259056, 23636687, 24511008, 25010932, 26122654, 27362805, 28222663, 28892675, 29103029, 29698572, 30165648, 30737368, 31040894, 31093512, 8387543, 9685865 View all (4 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neurodegenerative Diseases	Neurodegenerative disorder	Pubtator	35748636	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neurodegenerative Disorders	Neurodegenerative Disorders	BEFREE	23345134		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neuromyelitis Optica	Neuromyelitis Optica	BEFREE	22994200, 24927785		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neuropathy	Neuropathy	BEFREE	30173779, 31680831		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neutrophilia (disorder)	Neutrophilia	BEFREE	29382797		★★★★★ ★☆☆☆☆ Found in Text Mining only
NON RARE IN EUROPE: Multiple sclerosis	Multiple Sclerosis	Orphanet			★★★★★ ★☆☆☆☆ Found in Text Mining only
Non-alcoholic Fatty Liver Disease	Non-Alcoholic Fatty Liver Disease	BEFREE	29860102		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nonalcoholic Steatohepatitis	Non-alcoholic Fatty Liver Disease	BEFREE	29860102		★★★★★ ★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	10841005, 16503147, 18339717, 18758745, 22984249, 29244802, 29860102		★★★★★ ★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	29244802	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Oligodendroglioma	Oligodendroglioma	Pubtator	35963536	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Optic Neuritis	Optic neuritis	Pubtator	32563262	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Oral Mucositis	Oral Mucositis	BEFREE	28401452		★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteoarthritis	Osteoarthritis	Pubtator	9682783	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteoarthritis, Knee	Knee osteoarthritis	BEFREE	16282562		★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	BEFREE	24609716		★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteoporosis, Postmenopausal	Osteoporosis	BEFREE	30016774		★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	Pubtator	38250759	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	BEFREE	7933116		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ovarian Failure, Premature	Ovarian Failure	BEFREE	27943617		★★★★★ ★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	BEFREE	19741298, 26122654		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	32020859	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Painful Bladder Syndrome	Interstitial cystitis	BEFREE	28158970		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	9563482		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancreatic Ductal Adenocarcinoma	Pancreatic adenocarcinoma	BEFREE	30375637		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	17410536	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Panniculitis	Panniculitis	Pubtator	15479908	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Panniculitis Nodular Nonsuppurative	Panniculitis	Pubtator	15479908	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Paranoid Schizophrenia	Paranoid Schizophrenia	BEFREE	29317797		★★★★★ ★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	Pubtator	37773866, 9109538	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
PARKINSON DISEASE, LATE-ONSET	Parkinson disease	BEFREE	28096440		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pemphigus	Pemphigus	BEFREE	10620118		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pericarditis	Pericarditis	Pubtator	20074469, 35658515	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Pericarditis	Pericarditis	BEFREE	22311714, 27990755		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pericarditis	Pericarditis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Periodic syndrome	Periodic Syndrome	BEFREE	10902757, 12105243, 16216134, 17234651, 19180495, 20943039, 23745996, 26598380		★★★★★ ★☆☆☆☆ Found in Text Mining only
Periodontal Diseases	Periodontal Diseases	BEFREE	29889832		★★★★★ ★☆☆☆☆ Found in Text Mining only
Peripheral Arterial Diseases	Vascular Diseases	BEFREE	29879997		★★★★★ ★☆☆☆☆ Found in Text Mining only
Peritonitis	Peritonitis	Pubtator	11443543	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Pleurisy	Pleuritis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Polymyositis	Polymyositis	BEFREE	11055823		★★★★★ ★☆☆☆☆ Found in Text Mining only
Post-Traumatic Stress Disorder	Stress Disorder	BEFREE	28778657, 29157934		★★★★★ ★☆☆☆☆ Found in Text Mining only
Precursor B-cell lymphoblastic leukemia	Lymphoblastic Leukemia	BEFREE	31749151		★★★★★ ★☆☆☆☆ Found in Text Mining only
Precursor Cell Lymphoblastic Leukemia Lymphoma	Lymphoblastic Leukemia	LHGDN	12879482		★★★★★ ★☆☆☆☆ Found in Text Mining only
Precursor Cell Lymphoblastic Leukemia Lymphoma	Lymphoblastic Leukemia	BEFREE	2243505		★★★★★ ★☆☆☆☆ Found in Text Mining only
Primary biliary cirrhosis	Biliary Cirrhosis	GWASCAT_DG	21399635, 22961000, 26394269, 28425483		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
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
Prostate carcinoma	Prostate cancer	BEFREE	11340636, 29552132		★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	21703393, 30617107, 33326414	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Proteinuria	Proteinuria	Pubtator	16308343	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Prune Belly Syndrome	Prune belly syndrome	BEFREE	28158970		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pseudohyperkalemia Cardiff	Pseudohyperkalemia Cardiff	BEFREE	11455194		★★★★★ ★☆☆☆☆ Found in Text Mining only
Psoriasis	Psoriasis	BEFREE	24211183, 26613086		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Psoriasis	Psoriasis	Pubtator	26613086	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Psoriasis	Psoriasis	GWASCAT_DG	26974007		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pterygium	Pterygium	BEFREE	27314284		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pulmonary Cystic Fibrosis	Pulmonary Cystic Fibrosis	CTD_human_DG	16463024		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pulmonary Disease Chronic Obstructive	Chronic obstructive pulmonary disease	Pubtator	21912093, 35027824	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Pulmonary Fibrosis	Pulmonary Fibrosis	BEFREE	21633916		★★★★★ ★☆☆☆☆ Found in Text Mining only
Reactive systemic amyloidosis	Reactive Systemic Amyloidosis	BEFREE	11318938, 12105243, 15071491, 15316120		★★★★★ ★☆☆☆☆ Found in Text Mining only
Respiratory Distress Syndrome, Adult	Respiratory Distress Syndrome	BEFREE	28243236		★★★★★ ★☆☆☆☆ Found in Text Mining only
Retinopathy of Prematurity	Retinopathy	BEFREE	31266060		★★★★★ ★☆☆☆☆ Found in Text Mining only
Retinopathy of Prematurity	Retinopathy of prematurity	Pubtator	31266060	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	10088772, 11953970, 12209507, 12233877, 12730509, 12858434, 12913922, 1320571, 14872483, 15071491, 15492850, 16142859, 16859503, 17234651, 21813053 View all (11 more)		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Rheumatoid Arthritis	Rheumatoid arthritis	LHGDN	12913922, 14872483, 16142859, 17234651		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoidosis	Sarcoidosis	Pubtator	10445626	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Sarcoidosis	Sarcoidosis	Pubtator	16889950	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Sarcoidosis	Sarcoidosis	BEFREE	3138285		★★★★★ ★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	20659789, 28341443, 29317797, 29593588		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	PSYGENET_DG	20659789		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	Pubtator	29317797	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	Pubtator	30630651	Inhibit	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Scleroderma	Scleroderma	BEFREE	7636301		★★★★★ ★☆☆☆☆ Found in Text Mining only
Secondary Biliary Cholangitis	Biliary Cholangitis	CTD_human_DG	21399635		★★★★★ ★☆☆☆☆ Found in Text Mining only
Seizures	Seizures	Pubtator	38166692	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Sepsis	Sepsis	Pubtator	23029405	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Septicemia	Septicemia	BEFREE	25628461, 28144786, 29095202, 30123776, 30343600, 31787972		★★★★★ ★☆☆☆☆ Found in Text Mining only
Sezary Syndrome	Sezary Syndrome	BEFREE	22417305		★★★★★ ★☆☆☆☆ Found in Text Mining only
Skin lesion	Skin Lesion	BEFREE	16399796, 31515807		★★★★★ ★☆☆☆☆ Found in Text Mining only
Small Fiber Neuropathy	Small Fiber Neuropathy	BEFREE	30173779		★★★★★ ★☆☆☆☆ Found in Text Mining only
Spondylarthritis	Spondyloarthritis	BEFREE	29579081, 31609517		★★★★★ ★☆☆☆☆ Found in Text Mining only
Spondylitis Ankylosing	Ankylosing spondylitis	Pubtator	21743469, 28116820, 29579081, 39468794	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Sporadic Breast Carcinoma	Breast Carcinoma	BEFREE	25010932		★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	BEFREE	18206417		★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	LHGDN	18206417		★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of esophagus	Esophagus Neoplasm	BEFREE	24151445		★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	26113409, 26914121, 32548602, 37153589, 37713508	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of the hypopharynx	Hypopharyngeal Carcinoma	BEFREE	26113409		★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of tongue	Tongue carcinoma	BEFREE	17543081		★★★★★ ★☆☆☆☆ Found in Text Mining only
Steatohepatitis	Fatty Liver	BEFREE	18290776, 28929125, 29860102		★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	23975421, 31040894		★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Diseases	Stomach disease	Pubtator	33029495	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	33029495, 36613819	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomatitis	Stomatitis	BEFREE	28401452		★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomatitis	Stomatitis	Pubtator	28401452	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomatitis Aphthous	Aphthous stomatitis	Pubtator	37470237, 39343890	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Subarachnoid Hemorrhage	Subarachnoid hemorrhage	BEFREE	29959259, 30673997		★★★★★ ★☆☆☆☆ Found in Text Mining only
Systemic Scleroderma	Scleroderma	BEFREE	7636301		★★★★★ ★☆☆☆☆ Found in Text Mining only
Thyroid Diseases	Thyroid Diseases	LHGDN	11920568, 18571427		★★★★★ ★☆☆☆☆ Found in Text Mining only
Thyroid Diseases	Thyroid Diseases	BEFREE	29401539		★★★★★ ★☆☆☆☆ Found in Text Mining only
Transient Cerebral Ischemia	Cerebral Ischemia	BEFREE	29777731		★★★★★ ★☆☆☆☆ Found in Text Mining only
Transient Ischemic Attack	Transient Ischemic Attack	BEFREE	29777731		★★★★★ ★☆☆☆☆ Found in Text Mining only
Tricuspid Valve Insufficiency	Tricuspid Valve Insufficiency	BEFREE	26004742		★★★★★ ★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple Negative Breast Neoplasms	BEFREE	31093512		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ulcerative Colitis	Ulcerative colitis	BEFREE	18338763, 24776844, 24971461, 29959727		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ulcerative Colitis	Ulcerative colitis	GWASCAT_DG	26974007		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	22517918	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	8098725	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Uveitis	Uveitis	HPO_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Vascular Diseases	Vascular Diseases	LHGDN	11947900		★★★★★ ★☆☆☆☆ Found in Text Mining only
Vascular Diseases	Vascular Diseases	BEFREE	29879997		★★★★★ ★☆☆☆☆ Found in Text Mining only
Vasculitis	Vasculitis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Venous Thrombosis	Venous thrombosis	Pubtator	15692984	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Vesicular Stomatitis	Vesicular Stomatitis	BEFREE	29142134		★★★★★ ★☆☆☆☆ Found in Text Mining only

TNFRSF1A (TNF receptor superfamily member 1A)