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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways 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

127

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

	KEGG		Reactome
	MAPK signaling pathway Cytokine-cytokine receptor interaction Viral protein interaction with cytokine and cytokine receptor NF-kappa B signaling pathway Sphingolipid signaling pathway mTOR signaling pathway Apoptosis Apoptosis - multiple species Necroptosis Osteoclast differentiation TNF signaling pathway Adipocytokine signaling pathway Insulin resistance Non-alcoholic fatty liver disease Alcoholic liver disease Alzheimer disease Amyotrophic lateral sclerosis Pathways of neurodegeneration - multiple diseases Pathogenic Escherichia coli infection Shigellosis Salmonella infection Chagas disease Toxoplasmosis Tuberculosis Hepatitis C Human cytomegalovirus infection Influenza A Human papillomavirus infection Human T-cell leukemia virus 1 infection Kaposi sarcoma-associated herpesvirus infection Herpes simplex virus 1 infection Human immunodeficiency virus 1 infection Coronavirus disease - COVID-19 Lipid and atherosclerosis Fluid shear stress and atherosclerosis		TNFR1-induced proapoptotic signaling Regulation of TNFR1 signaling TNFR1-induced NFkappaB signaling pathway TNFR1-mediated ceramide production TNFs bind their physiological receptors Interleukin-10 signaling TNF signaling

561

Show/Hide Causal Diseases (6)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Autoinflammatory syndrome	Likely pathogenic; Pathogenic	rs104895271, rs104895238, rs104895252	RCV002262667 RCV002262668 RCV002264542
Behcet disease	Pathogenic	rs886039866	RCV000258049
CHARGE syndrome	Pathogenic	rs1592047560	RCV000984328
Multiple sclerosis	Pathogenic	rs104895219	RCV004798724
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 RCV000083921 RCV000083925 RCV000083926 RCV000083939 RCV000083943 RCV000083947 RCV000083951 RCV000083957 RCV000083963 RCV002017706 RCV001994995 RCV002601704 RCV000013128 RCV000013129 RCV000013130 RCV000013131 RCV000013132 RCV000013133 RCV000013134 RCV000013135 RCV000013136 RCV000013138 RCV003477446 RCV000693373
TNFRSF1A-related disorder	Likely pathogenic; Pathogenic	rs104895271	RCV004754299

Show/Hide Unknown Diseases (15)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Associated with severe COVID-19 disease	Benign	rs767455, rs1800693	RCV003401207 RCV003398577
Cervical cancer	Benign; Likely benign	rs199743143	RCV005890875
Familial Periodic Fever	Uncertain significance; Likely benign	rs554776242, rs201099296	RCV000368173 RCV000299328 RCV000314440
Febrile seizure (within the age range of 3 months to 6 years)	Conflicting classifications of pathogenicity	rs104895288	RCV000626739
Hepatocellular carcinoma	Benign	rs1800693	RCV005888824
Hepatosplenomegaly	Conflicting classifications of pathogenicity	rs104895288	RCV000626739
Lung cancer	Conflicting classifications of pathogenicity	rs761155688	RCV005895079
Malignant tumor of esophagus	Uncertain significance	rs104895278	RCV005887695
Melanoma	Uncertain significance	rs2497801600	RCV005930280
Multiple sclerosis, susceptibility to, 5	Conflicting classifications of pathogenicity; Benign; Uncertain significance	rs4149584, rs1800693, rs201083197	RCV001280954 RCV000030698 RCV002491353
See cases	Uncertain significance	rs2136812027	RCV002253109
Susceptibility to severe coronavirus disease (COVID-19)	Benign	rs767455, rs1800693	RCV001354059 RCV001354058
Susceptibility to severe coronavirus disease (COVID-19) due to high plasma levels of TNF, TNFR, and/or TNFR6	Benign	rs1800693	RCV001836715
Susceptibility to severe coronavirus disease (COVID-19) due to high plasma levels of TNF, TNFR, and/or TNFR7	Benign	rs767455	RCV001836762
Uterine corpus endometrial carcinoma	Benign; Likely benign	rs199743143	RCV005890876

Show/Hide Text Mining Associations (228)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
AA amyloidosis	Associate	11318938, 16308343, 23461592, 23965844, 36752501, 37470237
Abdominal Pain	Associate	11953985, 21978701, 23965844
Abnormalities Drug Induced	Associate	10540181
Abortion Habitual	Stimulate	36495656
Acquired Immunodeficiency Syndrome	Associate	11861282, 9326234
Acute Kidney Injury	Associate	34975885
Adenocarcinoma	Associate	29985074
Adenocarcinoma of Lung	Associate	26313705
Adenoma	Associate	23082052
Adenoma Islet Cell	Associate	26748784
Alveolitis Extrinsic Allergic	Associate	15929959
Alzheimer Disease	Associate	20110607, 24685635, 26621834
Amyloidosis	Associate	11443543, 12209523, 16308343, 36752501
Anemia Aplastic	Associate	12100146
Anemia Sickle Cell	Associate	21264913
Aortic Aneurysm Abdominal	Stimulate	10709065
Aortic Aneurysm Thoracic	Associate	29158612
Arteriosclerosis	Associate	23249640
Arthralgia	Associate	11443543, 17665448
Arthritis	Associate	11953985, 17234651, 17665448
Arthritis Juvenile	Associate	24967817
Arthritis Rheumatoid	Associate	12209507, 14872483, 16277675, 17234651, 17328054, 23494522, 23784528, 24782596, 25436214, 31906244, 7621589
Arthritis Rheumatoid	Inhibit	16200579, 36012570
Arthritis Rheumatoid	Stimulate	16951485
Asthma	Associate	21912093, 35473352, 35681430, 36611799
Atherosclerosis	Associate	37834170
Autoimmune Diseases	Associate	35963536
Back Pain	Associate	30075559
Behcet Syndrome	Associate	15692984, 30808881
Biliary Atresia	Associate	36333281
Bipolar Disorder	Associate	26257203, 35136035
Breast Neoplasms	Associate	16984377, 18606683, 19126655, 21523452, 24929677, 25010932, 25332681, 25928089, 26317411, 29621649, 37041130
Breast Neoplasms	Stimulate	25332681
Carcinogenesis	Associate	23082052
Carcinoma Hepatocellular	Stimulate	16425355
Carcinoma Non Small Cell Lung	Associate	21995493, 30989732
Carcinoma Pancreatic Ductal	Associate	20808857
Carcinoma Renal Cell	Associate	27362805, 32030920, 38537932
Cardiomyopathies	Associate	16168288
Cardiovascular Diseases	Stimulate	29686027
Cardiovascular Diseases	Associate	30354202
Castleman Disease	Associate	32303241
Celiac Disease	Associate	25915602
Cellulitis	Associate	10902757
Cerebral Infarction	Associate	33918875
Cholangiocarcinoma	Associate	10209503, 19218340
Chronic Disease	Associate	26931128
Colitis Ulcerative	Associate	24379584, 24971461, 28944823, 33608417
Colitis Ulcerative	Stimulate	24971461
Colorectal Neoplasms	Associate	25083765
Common Variable Immunodeficiency	Associate	32047491
Congenital Hereditary and Neonatal Diseases and Abnormalities	Associate	7636301
Conjunctivitis	Associate	11443543
Coronary Artery Disease	Inhibit	23249640
Coronary Disease	Associate	29686027
Coronavirus Infections	Associate	35726234
COVID 19	Associate	32581077, 32861275, 34177897, 34445140, 34504502, 34975885, 35294530, 35726234, 35792766
Crohn Disease	Associate	24971461, 33608417
Cryopyrin Associated Periodic Syndromes	Associate	10199409, 10902757, 14872483, 16142754, 16871532, 17665435, 19877056, 20943039, 23505244
Cryptogenic Organizing Pneumonia	Associate	21144722
Cystic Fibrosis	Associate	11591888, 17697131, 18026571
Cytomegalovirus Infections	Associate	28501927
Death	Associate	11279061, 34445140, 36534148
Depressive Disorder	Stimulate	27991935
Depressive Disorder Major	Associate	27138824
Dermatomyositis	Stimulate	36742332
Diabetes Complications	Associate	10540181, 28367848
Diabetes Mellitus	Stimulate	28367848
Diabetes Mellitus Type 2	Stimulate	19633828, 36614270
Diabetes Mellitus Type 2	Associate	28367848, 30598071
Diabetic Nephropathies	Inhibit	32723296
Diabetic Nephropathies	Associate	33122288
Drug Hypersensitivity	Associate	35681430
Drug Related Side Effects and Adverse Reactions	Associate	10089914, 10936200, 11381677, 24151445, 7509279, 9685865
Drug Related Side Effects and Adverse Reactions	Stimulate	8681376
Endometrial Neoplasms	Associate	37233761
Endometriosis	Associate	24844917
Epilepsy Temporal Lobe	Associate	27006531
Esophageal Neoplasms	Associate	19826638
Esophageal Squamous Cell Carcinoma	Associate	34995801
Exanthema	Associate	17665448, 21978701, 23965844
Eye Infections	Associate	38416549
Eye Manifestations	Associate	23965844
Fallopian Tube Diseases	Associate	12496205
Familial Mediterranean Fever	Associate	11318938, 12209523, 13130485, 20074469, 20506103, 24835548
Fatigue	Associate	17665448
Fever	Associate	15479908, 20943039, 21225694, 21978701, 23505244, 23965844, 35640127
Fibrosis	Associate	25860248
Gastroesophageal Reflux	Associate	21212151
GATA2 Deficiency	Associate	32321919
Glaucoma	Associate	21917936
Glioblastoma	Associate	11381677, 22396498, 23538445, 27858267, 30341039, 32326230, 35726234, 38212807
Glomerulonephritis IGA	Associate	25860248
Graft vs Host Disease	Associate	22469883
Graves Disease	Associate	17032245
Head and Neck Neoplasms	Associate	28401452
Headache	Associate	23965844
Heart Failure	Stimulate	28367848
Heart Failure	Associate	37140510
Helicobacter Infections	Associate	33029495
Hematologic Neoplasms	Associate	11166462
Hemoglobinuria Paroxysmal	Stimulate	28630090
Hepatitis C Chronic	Associate	22577869
Hereditary Autoinflammatory Diseases	Associate	10199409, 10902757, 11443543, 11817598, 11953985, 16308343, 16508982, 16871532, 18512793, 21225694, 21978701, 22059991, 23461592, 23965844, 25866490 View all (9 more)
Hippocampal Sclerosis	Associate	27006531
HIV Infections	Associate	11861282, 24759134
Hyperglycemia	Stimulate	28655972
Hypoxia	Associate	23122428
Immune System Diseases	Associate	10445626
Infections	Stimulate	26083468
Inflammation	Associate	10224136, 11443543, 12209523, 12748171, 12925536, 15818692, 16142754, 16308343, 16425355, 16611992, 17328054, 17697131, 18178551, 19116900, 19523687 View all (35 more)
Insulin Resistance	Associate	19633828, 21047923
Intervertebral Disc Degeneration	Associate	31140325
Invasive Pulmonary Aspergillosis	Associate	20646338
Keratosis palmoplantaris with esophageal cancer	Associate	26535007
Kidney Failure Chronic	Associate	21873362
Laryngeal Neoplasms	Associate	7509279
Leukemia	Associate	21820422, 7994039, 8381309
Leukemia Hairy Cell	Associate	8381309
Leukemia Large Granular Lymphocytic	Associate	1327287
Leukemia Lymphocytic Chronic B Cell	Associate	1384790, 35501457, 7994039, 8381309
Leukemia Lymphoma Adult T Cell	Associate	32024820
Leukemia Myeloid Acute	Associate	1382704, 27098354
Leukoencephalopathy Progressive Multifocal	Associate	21185609, 26531763
Lichen Planus	Associate	9188868
Liver Diseases	Associate	16425355, 29915336
Liver Neoplasms	Inhibit	26301107
Lung Diseases Interstitial	Associate	15929959, 21144722, 33080140
Lung Neoplasms	Associate	19448410, 23122428, 28099148, 30989732
Lupus Erythematosus Cutaneous	Associate	15692985
Lupus Erythematosus Systemic	Associate	24835548, 25762184, 31007604, 36946374
Lymphatic Diseases	Associate	23965844
Lymphatic Metastasis	Associate	25010932, 26113409
Lymphohistiocytosis Hemophagocytic	Associate	17456766
Lymphoma B Cell	Associate	18820675, 36534148
Lymphoma Non Hodgkin	Associate	11092613
Lymphoma T Cell	Associate	19717436
Lymphoma T Cell Cutaneous	Associate	17495957
Malformations of Cortical Development	Associate	34359880
Malformations of Cortical Development Group I	Associate	10224136
Melanoma	Associate	10318823, 23490134, 35580697, 35879777
Meningoencephalitis	Associate	32563262
Mental Disorders	Associate	29317797
Metabolic Syndrome	Associate	31816875
Mevalonate Kinase Deficiency	Associate	15188372
Mitochondrial Diseases	Associate	28584150, 34852799
Multi centric Castleman's Disease	Associate	32303241, 34096620
Multiple Myeloma	Associate	11443543, 21850048, 31406107
Multiple Organ Failure	Associate	34504502
Multiple Sclerosis	Associate	17665448, 19525953, 21552549, 22059991, 22801493, 24130709, 24130718, 24278027, 26062845, 29034884, 31810488, 32355262, 32563262, 33608417, 34488019, 35963536, 8833901 View all (2 more)
Muscle Neoplasms	Associate	26931128
Muscular Dystrophy Duchenne	Associate	32303241
Myalgia	Associate	11443543, 17665448
Mycosis Fungoides	Associate	12689942
Myelodysplastic Syndromes	Associate	12100146
Myocardial Infarction	Associate	35432334
Myocardial Ischemia	Associate	18765230
Myositis	Associate	10902757, 24965843
Myotonic Dystrophy	Stimulate	15217754
Necrosis	Associate	16611992, 28765050
Neoplasm Metastasis	Associate	23493346, 25010932
Neoplasms	Associate	11279061, 16984377, 20646319, 21995493, 22259056, 22396498, 22774984, 23493346, 25010932, 26113409, 26871470, 27362805, 27856634, 29233887, 30989732 View all (9 more)
Neoplasms	Inhibit	23212831
Neoplasms Adipose Tissue	Associate	21047923
Nerve Degeneration	Associate	20110607
Neurodegenerative Diseases	Associate	35748636
Neurologic Manifestations	Associate	32563262
Neuromyelitis Optica	Associate	24927785
Obesity	Associate	29244802
Oligodendroglioma	Associate	35963536
Optic Nerve Glioma	Stimulate	11381677
Optic Neuritis	Associate	32563262
Osteoarthritis	Associate	9682783
Osteosarcoma	Associate	38250759
Ovarian Neoplasms	Associate	32020859
Pain	Associate	21978701, 23965844
Pancreatic Neoplasms	Associate	17410536
Panniculitis	Associate	15479908
Panniculitis Nodular Nonsuppurative	Associate	15479908
Parkinson Disease	Associate	37773866, 9109538
Pediatric Obesity	Associate	26611714
Pericarditis	Associate	20074469, 35658515
Periodic fever familial autosomal dominant	Associate	10902757, 11318938, 11443543, 11817598, 11953985, 12209523, 12209524, 13130484, 13130485, 15188372, 15334481, 15479908, 15818692, 16142754, 16308343 View all (26 more)
Peritonitis	Associate	11443543
Personality Disorders	Associate	33029495
Plaque Amyloid	Associate	23461592
Polyomavirus Infections	Stimulate	36512270
Polyradiculoneuropathy Chronic Inflammatory Demyelinating	Associate	27175635
Post Acute COVID 19 Syndrome	Stimulate	37753077
Pre Excitation Syndromes	Associate	29317797
Precancerous Conditions	Associate	33029495
Primary granulocytic sarcoma	Stimulate	23493346
Primary Myelofibrosis	Associate	32923146
Propping Zerres syndrome	Associate	31397119
Prostatic Neoplasms	Associate	21703393, 30617107, 33326414
Proteinuria	Associate	16308343
Pseudolymphoma	Stimulate	1649557
Psoriasis	Associate	26613086
Pulmonary Disease Chronic Obstructive	Associate	21912093, 35027824
Respiratory Distress Syndrome	Associate	26611714
Respiratory Distress Syndrome Newborn	Associate	26611714
Respiratory Hypersensitivity	Associate	29467762
Retinopathy of Prematurity	Stimulate	31266060
Rubella	Associate	18715339
Sarcoidosis	Stimulate	10445626
Sarcoidosis	Associate	16889950
Schizophrenia	Associate	29317797
Schizophrenia	Inhibit	30630651
Seizures	Associate	38166692
Sepsis	Associate	23029405
Spinal Cord Injuries	Associate	26931128
Spondylitis Ankylosing	Associate	21743469, 28116820, 29579081, 39468794
Squamous Cell Carcinoma of Head and Neck	Associate	26113409, 26914121, 32548602, 37153589, 37713508
Still's Disease Adult Onset	Associate	10902757
Stomach Diseases	Associate	33029495
Stomach Neoplasms	Associate	33029495, 36613819
Stomatitis	Associate	28401452
Stomatitis Aphthous	Associate	37470237, 39343890
Systemic Inflammatory Response Syndrome	Associate	12209523
Thoracic Injuries	Associate	30075559
Tinnitus	Associate	34482816
Urinary Bladder Neoplasms	Associate	22517918
Uterine Cervical Neoplasms	Associate	8098725
Vasculitis Lymphocytic Cutaneous Small Vessel	Associate	15479908
Venous Thrombosis	Associate	15692984
Virus Diseases	Associate	15218506
Virus Diseases	Stimulate	21880774
Weight Loss	Associate	37738560

TNFRSF1A (TNF receptor superfamily member 1A)