TRIM27 (tripartite motif containing 27)

Gene

• Entrez ID: 5987
• Gene name: Tripartite motif containing 27
• Gene symbol: TRIM27
• Synonyms (NCBI Gene): RFP, RNF76
• Chromosome: 6
• Chromosome location: 6p22.1
• Summary: This gene encodes a member of the tripartite motif (TRIM) family. The TRIM motif includes three zinc-binding domains, a RING, a B-box type 1 and a B-box type 2, and a coiled-coil region. This protein localizes to the nuclear matrix. It interacts with the

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT039436	hsa-miR-421	CLASH	23622248
MIRT052686	hsa-miR-1260b	CLASH	23622248
MIRT709741	hsa-miR-586	HITS-CLIP	19536157
MIRT709740	hsa-miR-6870-3p	HITS-CLIP	19536157
MIRT709739	hsa-miR-942-5p	HITS-CLIP	19536157
MIRT709738	hsa-miR-4666a-5p	HITS-CLIP	19536157
MIRT709737	hsa-miR-1229-3p	HITS-CLIP	19536157
MIRT709736	hsa-miR-6873-3p	HITS-CLIP	19536157
MIRT709735	hsa-miR-4768-5p	HITS-CLIP	19536157
MIRT709734	hsa-miR-6833-3p	HITS-CLIP	19536157
MIRT645245	hsa-miR-6856-3p	HITS-CLIP	23824327
MIRT645244	hsa-miR-129-1-3p	HITS-CLIP	23824327
MIRT645243	hsa-miR-129-2-3p	HITS-CLIP	23824327
MIRT645242	hsa-miR-6504-3p	HITS-CLIP	23824327
MIRT645241	hsa-miR-6832-3p	HITS-CLIP	23824327
MIRT645240	hsa-miR-6735-3p	HITS-CLIP	23824327
MIRT645239	hsa-miR-6878-3p	HITS-CLIP	23824327
MIRT563440	hsa-miR-3609	PAR-CLIP	20371350
MIRT563439	hsa-miR-548ah-5p	PAR-CLIP	20371350
MIRT563438	hsa-miR-4712-3p	PAR-CLIP	20371350
MIRT563437	hsa-miR-493-3p	PAR-CLIP	20371350
MIRT563441	hsa-miR-548m	PAR-CLIP	20371350
MIRT563440	hsa-miR-3609	PAR-CLIP	20371350
MIRT563439	hsa-miR-548ah-5p	PAR-CLIP	20371350
MIRT563438	hsa-miR-4712-3p	PAR-CLIP	20371350
MIRT563437	hsa-miR-493-3p	PAR-CLIP	20371350
MIRT737417	hsa-miR-30b-3p	Luciferase reporter assay, Western blotting, Immunohistochemistry (IHC), qRT-PCR	31921311
MIRT709741	hsa-miR-586	HITS-CLIP	19536157
MIRT709740	hsa-miR-6870-3p	HITS-CLIP	19536157
MIRT709739	hsa-miR-942-5p	HITS-CLIP	19536157
MIRT709738	hsa-miR-4666a-5p	HITS-CLIP	19536157
MIRT709737	hsa-miR-1229-3p	HITS-CLIP	19536157
MIRT709736	hsa-miR-6873-3p	HITS-CLIP	19536157
MIRT709735	hsa-miR-4768-5p	HITS-CLIP	19536157
MIRT709734	hsa-miR-6833-3p	HITS-CLIP	19536157
MIRT645245	hsa-miR-6856-3p	HITS-CLIP	23824327
MIRT645244	hsa-miR-129-1-3p	HITS-CLIP	23824327
MIRT645243	hsa-miR-129-2-3p	HITS-CLIP	23824327
MIRT645242	hsa-miR-6504-3p	HITS-CLIP	23824327
MIRT645241	hsa-miR-6832-3p	HITS-CLIP	23824327
MIRT645240	hsa-miR-6735-3p	HITS-CLIP	23824327
MIRT645239	hsa-miR-6878-3p	HITS-CLIP	23824327
MIRT563440	hsa-miR-3609	PAR-CLIP	20371350
MIRT563439	hsa-miR-548ah-5p	PAR-CLIP	20371350
MIRT563438	hsa-miR-4712-3p	PAR-CLIP	20371350
MIRT563437	hsa-miR-493-3p	PAR-CLIP	20371350
MIRT563441	hsa-miR-548m	PAR-CLIP	20371350
MIRT563440	hsa-miR-3609	PAR-CLIP	20371350
MIRT563439	hsa-miR-548ah-5p	PAR-CLIP	20371350
MIRT563438	hsa-miR-4712-3p	PAR-CLIP	20371350
MIRT563437	hsa-miR-493-3p	PAR-CLIP	20371350
MIRT755621	hsa-miR-324-3p	Western blotting, qRT-PCR, Immunohistochemistry (IHC), Immunofluorescence	34632544
MIRT1453701	hsa-miR-1245	CLIP-seq
MIRT1453702	hsa-miR-1273e	CLIP-seq
MIRT1453703	hsa-miR-1286	CLIP-seq
MIRT1453704	hsa-miR-145	CLIP-seq
MIRT1453705	hsa-miR-146a	CLIP-seq
MIRT1453706	hsa-miR-146b-5p	CLIP-seq
MIRT1453707	hsa-miR-1913	CLIP-seq
MIRT1453708	hsa-miR-2392	CLIP-seq
MIRT1453709	hsa-miR-2681	CLIP-seq
MIRT1453710	hsa-miR-3147	CLIP-seq
MIRT1453711	hsa-miR-3169	CLIP-seq
MIRT755621	hsa-miR-324-3p	CLIP-seq
MIRT1453712	hsa-miR-3605-5p	CLIP-seq
MIRT1453713	hsa-miR-3616-5p	CLIP-seq
MIRT1453714	hsa-miR-3647-5p	CLIP-seq
MIRT1453715	hsa-miR-3660	CLIP-seq
MIRT1453716	hsa-miR-3918	CLIP-seq
MIRT1453717	hsa-miR-4251	CLIP-seq
MIRT1453718	hsa-miR-4259	CLIP-seq
MIRT1453719	hsa-miR-4488	CLIP-seq
MIRT1453720	hsa-miR-4512	CLIP-seq
MIRT1453721	hsa-miR-4526	CLIP-seq
MIRT1453722	hsa-miR-4534	CLIP-seq
MIRT1453723	hsa-miR-4635	CLIP-seq
MIRT1453724	hsa-miR-4653-3p	CLIP-seq
MIRT1453725	hsa-miR-4697-5p	CLIP-seq
MIRT1453726	hsa-miR-4740-5p	CLIP-seq
MIRT1453727	hsa-miR-4747-5p	CLIP-seq
MIRT1453728	hsa-miR-4795-5p	CLIP-seq
MIRT1453729	hsa-miR-513b	CLIP-seq
MIRT1453730	hsa-miR-571	CLIP-seq
MIRT1453731	hsa-miR-573	CLIP-seq
MIRT1453732	hsa-miR-589	CLIP-seq
MIRT1453733	hsa-miR-656	CLIP-seq
MIRT2136073	hsa-miR-134	CLIP-seq
MIRT2136074	hsa-miR-3118	CLIP-seq
MIRT2136075	hsa-miR-3164	CLIP-seq
MIRT2136076	hsa-miR-4501	CLIP-seq
MIRT2136077	hsa-miR-455-3p	CLIP-seq
MIRT2136078	hsa-miR-4719	CLIP-seq
MIRT2357050	hsa-miR-1193	CLIP-seq
MIRT1453701	hsa-miR-1245	CLIP-seq
MIRT1453702	hsa-miR-1273e	CLIP-seq
MIRT1453705	hsa-miR-146a	CLIP-seq
MIRT1453706	hsa-miR-146b-5p	CLIP-seq
MIRT2357051	hsa-miR-184	CLIP-seq
MIRT1453707	hsa-miR-1913	CLIP-seq
MIRT2357052	hsa-miR-193a-3p	CLIP-seq
MIRT2357053	hsa-miR-193b	CLIP-seq
MIRT2357054	hsa-miR-22	CLIP-seq
MIRT2357055	hsa-miR-2467-3p	CLIP-seq
MIRT1453709	hsa-miR-2681	CLIP-seq
MIRT2357056	hsa-miR-3144-5p	CLIP-seq
MIRT2357057	hsa-miR-3187-3p	CLIP-seq
MIRT2357058	hsa-miR-3191	CLIP-seq
MIRT755621	hsa-miR-324-3p	CLIP-seq
MIRT2357059	hsa-miR-325	CLIP-seq
MIRT1453713	hsa-miR-3616-5p	CLIP-seq
MIRT1453714	hsa-miR-3647-5p	CLIP-seq
MIRT2357060	hsa-miR-3667-3p	CLIP-seq
MIRT2357061	hsa-miR-3919	CLIP-seq
MIRT2357062	hsa-miR-3925-5p	CLIP-seq
MIRT2357063	hsa-miR-4257	CLIP-seq
MIRT2357064	hsa-miR-433	CLIP-seq
MIRT1453719	hsa-miR-4488	CLIP-seq
MIRT2357065	hsa-miR-452	CLIP-seq
MIRT2357066	hsa-miR-4529-5p	CLIP-seq
MIRT2136077	hsa-miR-455-3p	CLIP-seq
MIRT1453723	hsa-miR-4635	CLIP-seq
MIRT2357067	hsa-miR-4646-3p	CLIP-seq
MIRT2357068	hsa-miR-4652-5p	CLIP-seq
MIRT2357069	hsa-miR-4676-3p	CLIP-seq
MIRT2357070	hsa-miR-4685-5p	CLIP-seq
MIRT2357071	hsa-miR-4688	CLIP-seq
MIRT1453725	hsa-miR-4697-5p	CLIP-seq
MIRT2357072	hsa-miR-4701-5p	CLIP-seq
MIRT2357073	hsa-miR-4708-3p	CLIP-seq
MIRT2357074	hsa-miR-4709-3p	CLIP-seq
MIRT2136078	hsa-miR-4719	CLIP-seq
MIRT2357075	hsa-miR-4773	CLIP-seq
MIRT1453728	hsa-miR-4795-5p	CLIP-seq
MIRT2357076	hsa-miR-486-3p	CLIP-seq
MIRT2357077	hsa-miR-500a	CLIP-seq
MIRT2357078	hsa-miR-548a-3p	CLIP-seq
MIRT2357079	hsa-miR-548e	CLIP-seq
MIRT2357080	hsa-miR-548f	CLIP-seq
MIRT2357081	hsa-miR-558	CLIP-seq
MIRT1453731	hsa-miR-573	CLIP-seq
MIRT2357082	hsa-miR-588	CLIP-seq
MIRT1453732	hsa-miR-589	CLIP-seq
MIRT2357083	hsa-miR-617	CLIP-seq
MIRT2357084	hsa-miR-628-3p	CLIP-seq
MIRT2357085	hsa-miR-640	CLIP-seq
MIRT2357086	hsa-miR-759	CLIP-seq
MIRT1453704	hsa-miR-145	CLIP-seq
MIRT2357055	hsa-miR-2467-3p	CLIP-seq
MIRT2357063	hsa-miR-4257	CLIP-seq
MIRT2357065	hsa-miR-452	CLIP-seq
MIRT2357069	hsa-miR-4676-3p	CLIP-seq
MIRT2357071	hsa-miR-4688	CLIP-seq
MIRT2357076	hsa-miR-486-3p	CLIP-seq
MIRT2650648	hsa-miR-1233	CLIP-seq
MIRT2650649	hsa-miR-1237	CLIP-seq
MIRT2650650	hsa-miR-1265	CLIP-seq
MIRT1453704	hsa-miR-145	CLIP-seq
MIRT2357051	hsa-miR-184	CLIP-seq
MIRT1453707	hsa-miR-1913	CLIP-seq
MIRT2357054	hsa-miR-22	CLIP-seq
MIRT2650651	hsa-miR-2277-3p	CLIP-seq
MIRT1453708	hsa-miR-2392	CLIP-seq
MIRT2650652	hsa-miR-3120-3p	CLIP-seq
MIRT2650653	hsa-miR-3127-3p	CLIP-seq
MIRT2357056	hsa-miR-3144-5p	CLIP-seq
MIRT2650654	hsa-miR-3151	CLIP-seq
MIRT2357057	hsa-miR-3187-3p	CLIP-seq
MIRT2650655	hsa-miR-3189-5p	CLIP-seq
MIRT2357058	hsa-miR-3191	CLIP-seq
MIRT755621	hsa-miR-324-3p	CLIP-seq
MIRT2650656	hsa-miR-345	CLIP-seq
MIRT2650657	hsa-miR-361-3p	CLIP-seq
MIRT2650658	hsa-miR-3614-3p	CLIP-seq
MIRT2650659	hsa-miR-3679-3p	CLIP-seq
MIRT2650660	hsa-miR-3714	CLIP-seq
MIRT1453716	hsa-miR-3918	CLIP-seq
MIRT2650661	hsa-miR-4256	CLIP-seq
MIRT2650662	hsa-miR-4325	CLIP-seq
MIRT2357064	hsa-miR-433	CLIP-seq
MIRT2650663	hsa-miR-4503	CLIP-seq
MIRT1453720	hsa-miR-4512	CLIP-seq
MIRT2357066	hsa-miR-4529-5p	CLIP-seq
MIRT2357068	hsa-miR-4652-5p	CLIP-seq
MIRT2650664	hsa-miR-4687-5p	CLIP-seq
MIRT2650665	hsa-miR-4694-3p	CLIP-seq
MIRT1453727	hsa-miR-4747-5p	CLIP-seq
MIRT2650666	hsa-miR-4749-3p	CLIP-seq
MIRT2650667	hsa-miR-4758-3p	CLIP-seq
MIRT2357075	hsa-miR-4773	CLIP-seq
MIRT2650668	hsa-miR-4780	CLIP-seq
MIRT1453729	hsa-miR-513b	CLIP-seq
MIRT2650669	hsa-miR-520d-5p	CLIP-seq
MIRT2650670	hsa-miR-524-5p	CLIP-seq
MIRT2650671	hsa-miR-545	CLIP-seq
MIRT2650672	hsa-miR-548an	CLIP-seq
MIRT2357081	hsa-miR-558	CLIP-seq
MIRT2357083	hsa-miR-617	CLIP-seq
MIRT2357085	hsa-miR-640	CLIP-seq
MIRT2357086	hsa-miR-759	CLIP-seq
MIRT2650648	hsa-miR-1233	CLIP-seq
MIRT2650649	hsa-miR-1237	CLIP-seq
MIRT2650650	hsa-miR-1265	CLIP-seq
MIRT1453704	hsa-miR-145	CLIP-seq
MIRT2357051	hsa-miR-184	CLIP-seq
MIRT1453707	hsa-miR-1913	CLIP-seq
MIRT2357054	hsa-miR-22	CLIP-seq
MIRT2650651	hsa-miR-2277-3p	CLIP-seq
MIRT1453708	hsa-miR-2392	CLIP-seq
MIRT2694145	hsa-miR-299-3p	CLIP-seq
MIRT2650652	hsa-miR-3120-3p	CLIP-seq
MIRT2357056	hsa-miR-3144-5p	CLIP-seq
MIRT2650654	hsa-miR-3151	CLIP-seq
MIRT2357057	hsa-miR-3187-3p	CLIP-seq
MIRT2650655	hsa-miR-3189-5p	CLIP-seq
MIRT2357058	hsa-miR-3191	CLIP-seq
MIRT755621	hsa-miR-324-3p	CLIP-seq
MIRT2650656	hsa-miR-345	CLIP-seq
MIRT2650658	hsa-miR-3614-3p	CLIP-seq
MIRT2650660	hsa-miR-3714	CLIP-seq
MIRT1453716	hsa-miR-3918	CLIP-seq
MIRT2650661	hsa-miR-4256	CLIP-seq
MIRT2357063	hsa-miR-4257	CLIP-seq
MIRT2694146	hsa-miR-4283	CLIP-seq
MIRT2650662	hsa-miR-4325	CLIP-seq
MIRT2357064	hsa-miR-433	CLIP-seq
MIRT2694147	hsa-miR-4447	CLIP-seq
MIRT2694148	hsa-miR-4472	CLIP-seq
MIRT2694149	hsa-miR-4489	CLIP-seq
MIRT2694150	hsa-miR-4491	CLIP-seq
MIRT2650663	hsa-miR-4503	CLIP-seq
MIRT1453720	hsa-miR-4512	CLIP-seq
MIRT2694151	hsa-miR-4528	CLIP-seq
MIRT2357066	hsa-miR-4529-5p	CLIP-seq
MIRT2357068	hsa-miR-4652-5p	CLIP-seq
MIRT2694152	hsa-miR-4656	CLIP-seq
MIRT2694153	hsa-miR-4657	CLIP-seq
MIRT2650664	hsa-miR-4687-5p	CLIP-seq
MIRT2650666	hsa-miR-4749-3p	CLIP-seq
MIRT2650667	hsa-miR-4758-3p	CLIP-seq
MIRT2357075	hsa-miR-4773	CLIP-seq
MIRT2650668	hsa-miR-4780	CLIP-seq
MIRT2694154	hsa-miR-491-5p	CLIP-seq
MIRT2650669	hsa-miR-520d-5p	CLIP-seq
MIRT2650670	hsa-miR-524-5p	CLIP-seq
MIRT2650671	hsa-miR-545	CLIP-seq
MIRT2650672	hsa-miR-548an	CLIP-seq
MIRT2357081	hsa-miR-558	CLIP-seq
MIRT2357083	hsa-miR-617	CLIP-seq
MIRT2357085	hsa-miR-640	CLIP-seq
MIRT2357086	hsa-miR-759	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IBA
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IDA	10976108
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IEA
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IEA
GO:0001650	Component	Fibrillar center	IDA
GO:0003676	Function	Nucleic acid binding	TAS	3380101
GO:0003677	Function	DNA binding	IEA
GO:0003713	Function	Transcription coactivator activity	IDA	23077300
GO:0004842	Function	Ubiquitin-protein transferase activity	IMP	23452853
GO:0005515	Function	Protein binding	IPI	9570750, 10504338, 15837424, 16189514, 20864041, 21516116, 22128329, 22829933, 23452853, 24144979, 24722188, 25416956, 25910212, 26365382, 26496610, 26871637, 27107012, 29892012, 31413325, 31515488, 32296183, 32707033, 32814053, 33961781, 36217029, 36217030, 36538041
GO:0005634	Component	Nucleus	IDA	17156811
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA	10976108
GO:0005654	Component	Nucleoplasm	TAS
GO:0005730	Component	Nucleolus	IDA
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IC	17156811, 26358190, 35670107
GO:0005737	Component	Cytoplasm	IDA	17156811
GO:0005737	Component	Cytoplasm	IEA
GO:0005739	Component	Mitochondrion	IEA
GO:0005768	Component	Endosome	IDA	23452853
GO:0005768	Component	Endosome	IEA
GO:0005769	Component	Early endosome	IEA
GO:0005829	Component	Cytosol	TAS
GO:0007283	Process	Spermatogenesis	TAS	3380101
GO:0008270	Function	Zinc ion binding	IEA
GO:0010507	Process	Negative regulation of autophagy	IDA	35670107
GO:0010507	Process	Negative regulation of autophagy	IDA	35670107
GO:0010508	Process	Positive regulation of autophagy	IDA	35670107
GO:0016567	Process	Protein ubiquitination	IEA
GO:0016605	Component	PML body	IEA
GO:0016740	Function	Transferase activity	IEA
GO:0016925	Process	Protein sumoylation	TAS
GO:0019789	Function	SUMO transferase activity	EXP	12393906, 20972456
GO:0030904	Component	Retromer complex	IDA	23452853
GO:0031965	Component	Nuclear membrane	IDA	10976108
GO:0032480	Process	Negative regulation of type I interferon production	IDA	26358190
GO:0032481	Process	Positive regulation of type I interferon production	IDA	14703513
GO:0032897	Process	Negative regulation of viral transcription	IBA
GO:0032897	Process	Negative regulation of viral transcription	IDA	18248090
GO:0032897	Process	Negative regulation of viral transcription	IEA
GO:0034314	Process	Arp2/3 complex-mediated actin nucleation	IDA	23452853
GO:0042147	Process	Retrograde transport, endosome to Golgi	IDA	23452853
GO:0042802	Function	Identical protein binding	IPI	17156811, 22829933, 25416956, 27107012
GO:0044790	Process	Suppression of viral release by host	IEA
GO:0045087	Process	Innate immune response	IBA
GO:0045087	Process	Innate immune response	IDA	18248090
GO:0045087	Process	Innate immune response	IEA
GO:0045814	Process	Negative regulation of gene expression, epigenetic	IDA	10976108
GO:0045893	Process	Positive regulation of DNA-templated transcription	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0046872	Function	Metal ion binding	TAS	3380101
GO:0051127	Process	Positive regulation of actin nucleation	IEA
GO:0061630	Function	Ubiquitin protein ligase activity	EXP	23419514
GO:0061630	Function	Ubiquitin protein ligase activity	IBA
GO:0061630	Function	Ubiquitin protein ligase activity	IDA	22128329, 22829933, 26358190, 35670107
GO:0061630	Function	Ubiquitin protein ligase activity	IEA
GO:0070534	Process	Protein K63-linked ubiquitination	IMP	23452853
GO:0141039	Function	Phosphatidylinositol 3-kinase inhibitor activity	IDA	22128329

Other IDs

• MIM: 602165
• HGNC: 9975
• e!Ensembl: ENSG00000204713

Protein

• UniProt ID: P14373
• Protein name: Zinc finger protein RFP (EC 2.3.2.27) (RING finger protein 76) (Ret finger protein) (Tripartite motif-containing protein 27)
• Protein function: E3 ubiquitin-protein ligase that mediates ubiquitination of various substrates and thereby plays a role in diffent processes including proliferation, innate immunity, apoptosis, immune response or autophagy (PubMed:22829933, PubMed:24144979, Pub
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF15227	zf-C3HC4_4	16 → 56		Domain
  PF00643	zf-B_box	91 → 132	B-box zinc finger	Domain
  PF13765	PRY	318 → 366	SPRY-associated domain	Family
  PF00622	SPRY	370 → 487	SPRY domain	Family

• Tissue specificity: TISSUE SPECIFICITY: Expressed in testis namely within the seminiferous tubules. {ECO:0000269|PubMed:12445133}.
• Sequence:

  MASGSVAECLQQETTCPVCLQYFAEPMMLDCGHNICCACLARCWGTAETNVSCPQCRETF
  PQRHMRPNRHLANVTQLVKQLRTERPSGPGGEMGVCEKHREPLKLYCEEDQMPICVVCDR
  SREHRGHSVLPLEEAVEGFKEQIQNQLDHLKRVKDLKKRRRAQGEQARAELLSLTQMERE
  KIVWEFEQLYHSLKEHEYRLLARLEELDLAIYNSINGAITQFSCNISHLSSLIAQLEEKQ
  QQPTRELLQDIGDTLSRAERIRIPEPWITPPDLQEKIHIFAQKCLFLTESLKQFTEKMQS
  DMEKIQELREAQLYSVDVTLDPDTAYPSLILSDNLRQVRYSYLQQDLPDNPERFNLFPCV
  LGSPCFIAGRHYWEVEVGDKAKWTIGVCEDSVCRKGGVTSAPQNGFWAVSLWYGKEYWAL
  TSPMTALPLRTPLQRVGIFLDYDAGEVSFYNVTERCHTFTFSHATFCGPVRPYFSLSYSG
  GKSAAPLIICPMSGIDGFSGHVGNHGHSMETSP

• Sequence length: 513

Pathways

Reactome:

SUMOylation of ubiquitinylation proteins
Regulation of PTEN stability and activity
Suppression of apoptosis

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
DIFFERENTIATED THYROID CARCINOMA	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTHYROIDISM	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUNG CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PSORIASIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Adenocarcinoma	Adenocarcinoma	BEFREE	15826242		★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis	Amyotrophic Lateral Sclerosis	BEFREE	26107889		★☆☆☆☆ Found in Text Mining only
Anemia, Diamond-Blackfan	Anemia	BEFREE	15771965		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	19232840		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	37307465	Associate	★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	39266987, 9599022	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	19232840		★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	36217828	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Intraductal Noninfiltrating	Intraductal noninfiltrating carcinoma	Pubtator	30610524, 31162284, 34985683	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	22524660		★☆☆☆☆ Found in Text Mining only
Carcinoma Ovarian Epithelial	Epithelial ovarian carcinoma	Pubtator	23011823	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	33173411	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	23342271, 26568293, 30399596		★☆☆☆☆ Found in Text Mining only
Cardiomyopathy, Familial Idiopathic	Cardiomyopathy	BEFREE	31697865		★☆☆☆☆ Found in Text Mining only
Cerebrovascular accident	Stroke	BEFREE	31525508		★☆☆☆☆ Found in Text Mining only
Chondroma	Chondroma	BEFREE	29106539		★☆☆☆☆ Found in Text Mining only
Colitis	Colitis	BEFREE	30143645		★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	30061205		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	29767249		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	39266987	Associate	★☆☆☆☆ Found in Text Mining only
Congenital adrenal hyperplasia due to 21 hydroxylase deficiency	Congenital adrenal hyperplasia	BEFREE	1977680		★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathies	Diabetic neuropathy	Pubtator	36627639	Associate	★☆☆☆☆ Found in Text Mining only
Differentiated thyroid carcinoma	Thyroid Carcinoma	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Endometrial Carcinoma	Endometrial carcinoma	BEFREE	19650860, 22524660, 22556269		★☆☆☆☆ Found in Text Mining only
Endometrial Neoplasms	Endometrial neoplasm	Pubtator	19650860, 23011823, 39394602	Associate	★☆☆☆☆ Found in Text Mining only
Epithelial ovarian cancer	Ovarian cancer	BEFREE	23342271		★☆☆☆☆ Found in Text Mining only
Esophageal Squamous Cell Carcinoma	Esophageal squamous cell carcinoma	Pubtator	24595008	Associate	★☆☆☆☆ Found in Text Mining only
Fibroid Tumor	Leiomyoma	BEFREE	24768852		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	30811978, 31178471		★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	30811978, 31178471		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	23253700, 30811978		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	35986882	Associate	★☆☆☆☆ Found in Text Mining only
Hematuria	Hematuria	Pubtator	37872228	Associate	★☆☆☆☆ Found in Text Mining only
Infertility Male	Male infertility	Pubtator	31103287	Associate	★☆☆☆☆ Found in Text Mining only
Kidney Failure, Acute	Kidney Failure	BEFREE	28886014		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	26459277		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	33448640	Associate	★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus	Lupus Erythematosus	BEFREE	30648253		★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Discoid	Lupus Erythematosus	BEFREE	30648253		★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Systemic	Lupus Erythematosus	BEFREE	30648253		★☆☆☆☆ Found in Text Mining only
Lupus Nephritis	Lupus Nephritis	BEFREE	30648253		★☆☆☆☆ Found in Text Mining only
Lupus Vulgaris	Lupus Vulgaris	BEFREE	30648253		★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	34985683	Associate	★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of endometrium	Endometrial Cancer	BEFREE	19650860, 22556269		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of esophagus	Esophagus Neoplasm	BEFREE	31719796		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	22524660		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	26568293, 30399596		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	21491421		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of skin	Skin cancer	BEFREE	22556269		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of tongue	Malignant Neoplasm Of Tongue	BEFREE	28288391		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	19351825, 22524660, 22556269, 23342271, 29767249, 30483856, 31178471		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	19351825, 30061205		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	BEFREE	30576620		★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	20422010, 26033450		★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	33118318	Associate	★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	16855381, 19221501, 19232840, 22556269, 25016285, 25483261, 25616355, 26356813, 27863373, 28192065, 28668831, 28811223, 30143645, 31191817, 31515263		★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	29749533, 31232177		★☆☆☆☆ Found in Text Mining only
Noninfiltrating Intraductal Carcinoma	Ductal carcinoma	BEFREE	19232840, 30045065, 30134951, 31162284		★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	BEFREE	12413468, 15837424, 28314258		★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	BEFREE	26568293, 30399596		★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	23791107, 36722270, 36978087	Associate	★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	21491421		★☆☆☆☆ Found in Text Mining only
Papillary thyroid carcinoma	Papillary thyroid carcinoma	BEFREE	12787916		★☆☆☆☆ Found in Text Mining only
Papillary thyroid carcinoma	Papillary thyroid carcinoma	ORPHANET_DG	12787916, 17062879		★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	BEFREE	25223908, 31354022		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	23135352, 32366400	Associate	★☆☆☆☆ Found in Text Mining only
Psoriasis	Psoriasis	BEFREE	31747314		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Retinoblastoma	Retinoblastoma	BEFREE	22556269		★☆☆☆☆ Found in Text Mining only
Salivary Gland Neoplasms	Salivary gland neoplasms	Pubtator	30610524	Associate	★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	GWASCAT_DG	30285260		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Skin Neoplasms	Skin Neoplasms	BEFREE	22556269		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	BEFREE	15826242		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of esophagus	Esophagus Neoplasm	BEFREE	24595008, 31719796		★☆☆☆☆ Found in Text Mining only
Steatohepatitis	Fatty Liver	BEFREE	29515134		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	36380570	Associate	★☆☆☆☆ Found in Text Mining only
Subarachnoid Hemorrhage	Subarachnoid hemorrhage	BEFREE	30117729		★☆☆☆☆ Found in Text Mining only
Tetralogy of Fallot	Tetralogy of fallot	Pubtator	30977211	Associate	★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasms	Thyroid cancer	Pubtator	32737449	Associate	★☆☆☆☆ Found in Text Mining only
Uterine Fibroids	Uterine Fibroids	BEFREE	24768852		★☆☆☆☆ Found in Text Mining only
Vesicular Stomatitis	Vesicular Stomatitis	BEFREE	31694919		★☆☆☆☆ Found in Text Mining only
Vitamin D Deficiency	Vitamin d deficiency	Pubtator	23527013	Associate	★☆☆☆☆ Found in Text Mining only