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

Gene Gene information from NCBI Gene database. Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	7030
Gene name	Transcription factor binding to IGHM enhancer 3
Gene symbol	TFE3
Synonyms (NCBI Gene)	MRXSPFRCCP2RCCX1TFEAbHLHe33
Chromosome	X
Chromosome location	Xp11.23
Summary	This gene encodes a basic helix-loop-helix domain-containing transcription factor that binds MUE3-type E-box sequences in the promoter of genes. The encoded protein promotes the expression of genes downstream of transforming growth factor beta (TGF-beta)

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Show/Hide all (243)

miRTarBase ID	miRNA	Experiments	Reference
MIRT017158	hsa-miR-335-5p	Microarray	18185580
MIRT037852	hsa-miR-455-3p	CLASH	23622248
MIRT1420433	hsa-let-7a	CLIP-seq
MIRT1420434	hsa-let-7b	CLIP-seq
MIRT1420435	hsa-let-7c	CLIP-seq
MIRT1420436	hsa-let-7d	CLIP-seq
MIRT1420437	hsa-let-7e	CLIP-seq
MIRT1420438	hsa-let-7f	CLIP-seq
MIRT1420439	hsa-let-7g	CLIP-seq
MIRT1420440	hsa-let-7i	CLIP-seq
MIRT1420441	hsa-miR-1207-5p	CLIP-seq
MIRT1420442	hsa-miR-124	CLIP-seq
MIRT1420443	hsa-miR-1262	CLIP-seq
MIRT1420444	hsa-miR-186	CLIP-seq
MIRT1420445	hsa-miR-1909	CLIP-seq
MIRT1420446	hsa-miR-1915	CLIP-seq
MIRT1420447	hsa-miR-200b	CLIP-seq
MIRT1420448	hsa-miR-200c	CLIP-seq
MIRT1420449	hsa-miR-202	CLIP-seq
MIRT1420450	hsa-miR-2861	CLIP-seq
MIRT1420451	hsa-miR-3189-3p	CLIP-seq
MIRT1420452	hsa-miR-320a	CLIP-seq
MIRT1420453	hsa-miR-320b	CLIP-seq
MIRT1420454	hsa-miR-320c	CLIP-seq
MIRT1420455	hsa-miR-320d	CLIP-seq
MIRT1420456	hsa-miR-331-5p	CLIP-seq
MIRT1420457	hsa-miR-3714	CLIP-seq
MIRT1420458	hsa-miR-3910	CLIP-seq
MIRT1420459	hsa-miR-429	CLIP-seq
MIRT1420460	hsa-miR-4300	CLIP-seq
MIRT1420461	hsa-miR-4429	CLIP-seq
MIRT1420462	hsa-miR-4455	CLIP-seq
MIRT1420463	hsa-miR-4458	CLIP-seq
MIRT1420464	hsa-miR-4500	CLIP-seq
MIRT1420465	hsa-miR-4678	CLIP-seq
MIRT1420466	hsa-miR-4701-3p	CLIP-seq
MIRT1420467	hsa-miR-4726-3p	CLIP-seq
MIRT1420468	hsa-miR-4763-3p	CLIP-seq
MIRT1420469	hsa-miR-4795-3p	CLIP-seq
MIRT1420470	hsa-miR-506	CLIP-seq
MIRT1420471	hsa-miR-549	CLIP-seq
MIRT1420472	hsa-miR-609	CLIP-seq
MIRT1420473	hsa-miR-920	CLIP-seq
MIRT1420474	hsa-miR-939	CLIP-seq
MIRT1420475	hsa-miR-940	CLIP-seq
MIRT1420476	hsa-miR-98	CLIP-seq
MIRT1554549	hsa-miR-4793-5p	CLIP-seq
MIRT2126253	hsa-miR-1	CLIP-seq
MIRT2126254	hsa-miR-1227	CLIP-seq
MIRT2126255	hsa-miR-1293	CLIP-seq
MIRT2126256	hsa-miR-1587	CLIP-seq
MIRT1420446	hsa-miR-1915	CLIP-seq
MIRT2126257	hsa-miR-193a-5p	CLIP-seq
MIRT2126258	hsa-miR-206	CLIP-seq
MIRT2126259	hsa-miR-3074-5p	CLIP-seq
MIRT2126260	hsa-miR-3126-5p	CLIP-seq
MIRT2126261	hsa-miR-3179	CLIP-seq
MIRT2126262	hsa-miR-3182	CLIP-seq
MIRT2126263	hsa-miR-3190	CLIP-seq
MIRT2126264	hsa-miR-3202	CLIP-seq
MIRT2126265	hsa-miR-361-3p	CLIP-seq
MIRT2126266	hsa-miR-3673	CLIP-seq
MIRT2126267	hsa-miR-378g	CLIP-seq
MIRT2126268	hsa-miR-3911	CLIP-seq
MIRT2126269	hsa-miR-4271	CLIP-seq
MIRT2126270	hsa-miR-4279	CLIP-seq
MIRT2126271	hsa-miR-4302	CLIP-seq
MIRT2126272	hsa-miR-4312	CLIP-seq
MIRT2126273	hsa-miR-4316	CLIP-seq
MIRT2126274	hsa-miR-4419a	CLIP-seq
MIRT2126275	hsa-miR-4447	CLIP-seq
MIRT2126276	hsa-miR-4472	CLIP-seq
MIRT2126277	hsa-miR-4483	CLIP-seq
MIRT2126278	hsa-miR-4492	CLIP-seq
MIRT2126279	hsa-miR-4498	CLIP-seq
MIRT2126280	hsa-miR-4505	CLIP-seq
MIRT2126281	hsa-miR-4510	CLIP-seq
MIRT2126282	hsa-miR-4656	CLIP-seq
MIRT2126283	hsa-miR-4663	CLIP-seq
MIRT2126284	hsa-miR-4667-3p	CLIP-seq
MIRT2126285	hsa-miR-4668-5p	CLIP-seq
MIRT2126286	hsa-miR-4675	CLIP-seq
MIRT2126287	hsa-miR-4691-5p	CLIP-seq
MIRT2126288	hsa-miR-4710	CLIP-seq
MIRT2126289	hsa-miR-4720-3p	CLIP-seq
MIRT2126290	hsa-miR-4725-3p	CLIP-seq
MIRT1420467	hsa-miR-4726-3p	CLIP-seq
MIRT2126291	hsa-miR-4727-5p	CLIP-seq
MIRT2126292	hsa-miR-4728-5p	CLIP-seq
MIRT2126293	hsa-miR-4731-5p	CLIP-seq
MIRT2126294	hsa-miR-4741	CLIP-seq
MIRT2126295	hsa-miR-4747-5p	CLIP-seq
MIRT2126296	hsa-miR-4755-3p	CLIP-seq
MIRT1554549	hsa-miR-4793-5p	CLIP-seq
MIRT2126297	hsa-miR-483-3p	CLIP-seq
MIRT2126298	hsa-miR-502-5p	CLIP-seq
MIRT2126299	hsa-miR-613	CLIP-seq
MIRT2126300	hsa-miR-628-5p	CLIP-seq
MIRT2126301	hsa-miR-762	CLIP-seq
MIRT1420441	hsa-miR-1207-5p	CLIP-seq
MIRT2348285	hsa-miR-1285	CLIP-seq
MIRT1420446	hsa-miR-1915	CLIP-seq
MIRT2348286	hsa-miR-3187-5p	CLIP-seq
MIRT2348287	hsa-miR-4436b-3p	CLIP-seq
MIRT2348288	hsa-miR-4695-3p	CLIP-seq
MIRT1420467	hsa-miR-4726-3p	CLIP-seq
MIRT2126292	hsa-miR-4728-5p	CLIP-seq
MIRT1420468	hsa-miR-4763-3p	CLIP-seq
MIRT2348289	hsa-miR-612	CLIP-seq
MIRT2640892	hsa-miR-1197	CLIP-seq
MIRT2640893	hsa-miR-122	CLIP-seq
MIRT1420443	hsa-miR-1262	CLIP-seq
MIRT2348285	hsa-miR-1285	CLIP-seq
MIRT2640894	hsa-miR-1286	CLIP-seq
MIRT2640895	hsa-miR-1913	CLIP-seq
MIRT1420446	hsa-miR-1915	CLIP-seq
MIRT2640896	hsa-miR-203	CLIP-seq
MIRT2640897	hsa-miR-204	CLIP-seq
MIRT2640898	hsa-miR-211	CLIP-seq
MIRT2640899	hsa-miR-2114	CLIP-seq
MIRT2640900	hsa-miR-3161	CLIP-seq
MIRT2640901	hsa-miR-3184	CLIP-seq
MIRT2640902	hsa-miR-3185	CLIP-seq
MIRT2348286	hsa-miR-3187-5p	CLIP-seq
MIRT1420451	hsa-miR-3189-3p	CLIP-seq
MIRT2640903	hsa-miR-324-3p	CLIP-seq
MIRT1420456	hsa-miR-331-5p	CLIP-seq
MIRT2640904	hsa-miR-342-5p	CLIP-seq
MIRT2640905	hsa-miR-3622a-3p	CLIP-seq
MIRT2640906	hsa-miR-3622b-3p	CLIP-seq
MIRT2640907	hsa-miR-3646	CLIP-seq
MIRT2640908	hsa-miR-3661	CLIP-seq
MIRT2640909	hsa-miR-3667-3p	CLIP-seq
MIRT1420457	hsa-miR-3714	CLIP-seq
MIRT2640910	hsa-miR-3913-3p	CLIP-seq
MIRT2640911	hsa-miR-423-5p	CLIP-seq
MIRT2640912	hsa-miR-4287	CLIP-seq
MIRT2640913	hsa-miR-4421	CLIP-seq
MIRT2126275	hsa-miR-4447	CLIP-seq
MIRT1420462	hsa-miR-4455	CLIP-seq
MIRT2640914	hsa-miR-4469	CLIP-seq
MIRT2126276	hsa-miR-4472	CLIP-seq
MIRT2640915	hsa-miR-4488	CLIP-seq
MIRT2640916	hsa-miR-4511	CLIP-seq
MIRT2640917	hsa-miR-4522	CLIP-seq
MIRT2640918	hsa-miR-4651	CLIP-seq
MIRT2640919	hsa-miR-4664-5p	CLIP-seq
MIRT1420465	hsa-miR-4678	CLIP-seq
MIRT2640920	hsa-miR-4685-3p	CLIP-seq
MIRT2126287	hsa-miR-4691-5p	CLIP-seq
MIRT2640921	hsa-miR-4697-5p	CLIP-seq
MIRT1420466	hsa-miR-4701-3p	CLIP-seq
MIRT2640922	hsa-miR-4714-5p	CLIP-seq
MIRT2640923	hsa-miR-4723-5p	CLIP-seq
MIRT1420467	hsa-miR-4726-3p	CLIP-seq
MIRT2640924	hsa-miR-4749-3p	CLIP-seq
MIRT2640925	hsa-miR-4757-5p	CLIP-seq
MIRT2640926	hsa-miR-4766-5p	CLIP-seq
MIRT2640927	hsa-miR-4768-3p	CLIP-seq
MIRT1554549	hsa-miR-4793-5p	CLIP-seq
MIRT2640928	hsa-miR-4794	CLIP-seq
MIRT2640929	hsa-miR-4802-5p	CLIP-seq
MIRT2126297	hsa-miR-483-3p	CLIP-seq
MIRT2640930	hsa-miR-489	CLIP-seq
MIRT2640931	hsa-miR-508-5p	CLIP-seq
MIRT1420471	hsa-miR-549	CLIP-seq
MIRT2640932	hsa-miR-593	CLIP-seq
MIRT2640933	hsa-miR-608	CLIP-seq
MIRT1420472	hsa-miR-609	CLIP-seq
MIRT2348289	hsa-miR-612	CLIP-seq
MIRT2640934	hsa-miR-618	CLIP-seq
MIRT2640935	hsa-miR-631	CLIP-seq
MIRT2640936	hsa-miR-642a	CLIP-seq
MIRT2640937	hsa-miR-665	CLIP-seq
MIRT2640938	hsa-miR-769-5p	CLIP-seq
MIRT1420475	hsa-miR-940	CLIP-seq
MIRT2640892	hsa-miR-1197	CLIP-seq
MIRT2640893	hsa-miR-122	CLIP-seq
MIRT1420443	hsa-miR-1262	CLIP-seq
MIRT2640894	hsa-miR-1286	CLIP-seq
MIRT2692928	hsa-miR-1299	CLIP-seq
MIRT2640895	hsa-miR-1913	CLIP-seq
MIRT1420446	hsa-miR-1915	CLIP-seq
MIRT2640896	hsa-miR-203	CLIP-seq
MIRT2640897	hsa-miR-204	CLIP-seq
MIRT2640898	hsa-miR-211	CLIP-seq
MIRT2640899	hsa-miR-2114	CLIP-seq
MIRT2692929	hsa-miR-3148	CLIP-seq
MIRT2640900	hsa-miR-3161	CLIP-seq
MIRT2640901	hsa-miR-3184	CLIP-seq
MIRT2640902	hsa-miR-3185	CLIP-seq
MIRT1420451	hsa-miR-3189-3p	CLIP-seq
MIRT2640903	hsa-miR-324-3p	CLIP-seq
MIRT1420456	hsa-miR-331-5p	CLIP-seq
MIRT2640904	hsa-miR-342-5p	CLIP-seq
MIRT2640907	hsa-miR-3646	CLIP-seq
MIRT2692930	hsa-miR-3647-3p	CLIP-seq
MIRT2640908	hsa-miR-3661	CLIP-seq
MIRT2640909	hsa-miR-3667-3p	CLIP-seq
MIRT1420457	hsa-miR-3714	CLIP-seq
MIRT2640910	hsa-miR-3913-3p	CLIP-seq
MIRT2640911	hsa-miR-423-5p	CLIP-seq
MIRT2640912	hsa-miR-4287	CLIP-seq
MIRT2640913	hsa-miR-4421	CLIP-seq
MIRT2126275	hsa-miR-4447	CLIP-seq
MIRT1420462	hsa-miR-4455	CLIP-seq
MIRT2640914	hsa-miR-4469	CLIP-seq
MIRT2126276	hsa-miR-4472	CLIP-seq
MIRT2640915	hsa-miR-4488	CLIP-seq
MIRT2640916	hsa-miR-4511	CLIP-seq
MIRT2640917	hsa-miR-4522	CLIP-seq
MIRT2640918	hsa-miR-4651	CLIP-seq
MIRT2640919	hsa-miR-4664-5p	CLIP-seq
MIRT1420465	hsa-miR-4678	CLIP-seq
MIRT2640920	hsa-miR-4685-3p	CLIP-seq
MIRT2126287	hsa-miR-4691-5p	CLIP-seq
MIRT2640921	hsa-miR-4697-5p	CLIP-seq
MIRT1420466	hsa-miR-4701-3p	CLIP-seq
MIRT2640922	hsa-miR-4714-5p	CLIP-seq
MIRT2640923	hsa-miR-4723-5p	CLIP-seq
MIRT1420467	hsa-miR-4726-3p	CLIP-seq
MIRT2640924	hsa-miR-4749-3p	CLIP-seq
MIRT2640925	hsa-miR-4757-5p	CLIP-seq
MIRT2640926	hsa-miR-4766-5p	CLIP-seq
MIRT2640927	hsa-miR-4768-3p	CLIP-seq
MIRT1554549	hsa-miR-4793-5p	CLIP-seq
MIRT2640928	hsa-miR-4794	CLIP-seq
MIRT2640929	hsa-miR-4802-5p	CLIP-seq
MIRT2126297	hsa-miR-483-3p	CLIP-seq
MIRT2640930	hsa-miR-489	CLIP-seq
MIRT2640931	hsa-miR-508-5p	CLIP-seq
MIRT2692931	hsa-miR-513a-3p	CLIP-seq
MIRT1420471	hsa-miR-549	CLIP-seq
MIRT2640932	hsa-miR-593	CLIP-seq
MIRT2640933	hsa-miR-608	CLIP-seq
MIRT1420472	hsa-miR-609	CLIP-seq
MIRT2640934	hsa-miR-618	CLIP-seq
MIRT2640935	hsa-miR-631	CLIP-seq
MIRT2692932	hsa-miR-660	CLIP-seq
MIRT2640937	hsa-miR-665	CLIP-seq
MIRT2640938	hsa-miR-769-5p	CLIP-seq
MIRT2692933	hsa-miR-875-3p	CLIP-seq
MIRT1420475	hsa-miR-940	CLIP-seq

Show/Hide all (1)

Transcription factor	Regulation	Reference
E2F3	Unknown	12748276

Show/Hide all (47)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000785	Component	Chromatin	ISA
GO:0000976	Function	Transcription cis-regulatory region binding	ISS
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IEA
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	IBA
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	IDA	24448649
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	IEA
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	ISA
GO:0001228	Function	DNA-binding transcription activator activity, RNA polymerase II-specific	IEA
GO:0002250	Process	Adaptive immune response	IEA
GO:0002376	Process	Immune system process	IEA
GO:0003677	Function	DNA binding	IEA
GO:0003700	Function	DNA-binding transcription factor activity	IDA	24448649
GO:0003700	Function	DNA-binding transcription factor activity	ISS
GO:0003700	Function	DNA-binding transcription factor activity	NAS	1685140
GO:0005515	Function	Protein binding	IPI	15507434, 26168401, 32296183, 33961781
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IDA	24448649, 36608670
GO:0005634	Component	Nucleus	IDA	22692423
GO:0005634	Component	Nucleus	IEA
GO:0005634	Component	Nucleus	IMP	21209915
GO:0005654	Component	Nucleoplasm	IDA
GO:0005737	Component	Cytoplasm	IDA	22692423
GO:0005737	Component	Cytoplasm	IEA
GO:0005764	Component	Lysosome	IEA
GO:0005765	Component	Lysosomal membrane	IDA	24448649, 36608670
GO:0005765	Component	Lysosomal membrane	IEA
GO:0005829	Component	Cytosol	IDA	24448649, 36608670
GO:0005829	Component	Cytosol	IEA
GO:0006355	Process	Regulation of DNA-templated transcription	IEA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IBA
GO:0006959	Process	Humoral immune response	IEA
GO:0006959	Process	Humoral immune response	ISS
GO:0007040	Process	Lysosome organization	IDA	24448649
GO:0016020	Component	Membrane	IEA
GO:0045670	Process	Regulation of osteoclast differentiation	IEA
GO:0045785	Process	Positive regulation of cell adhesion	IMP	21209915
GO:0045893	Process	Positive regulation of DNA-templated transcription	IEA
GO:0045893	Process	Positive regulation of DNA-templated transcription	IMP	29146937
GO:0045893	Process	Positive regulation of DNA-templated transcription	ISS
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IEA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IMP	21209915
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	ISS
GO:0046983	Function	Protein dimerization activity	IEA
GO:0090336	Process	Positive regulation of brown fat cell differentiation	ISS
GO:0120163	Process	Negative regulation of cold-induced thermogenesis	ISS	23885019
GO:1990837	Function	Sequence-specific double-stranded DNA binding	IDA	28473536

MIM	HGNC	e!Ensembl
314310	11752	ENSG00000068323

P19532

Protein name

Transcription factor E3 (Class E basic helix-loop-helix protein 33) (bHLHe33)

Protein function

Transcription factor that acts as a master regulator of lysosomal biogenesis and immune response (PubMed:2338243, PubMed:24448649, PubMed:29146937, PubMed:30733432, PubMed:31672913, PubMed:37079666). Specifically recognizes and binds E-box seque

PDB

7F09

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF15951	MITF_TFEB_C_3_N	113 → 266	MITF/TFEB/TFEC/TFE3 N-terminus	Family
PF00010	HLH	347 → 400	Helix-loop-helix DNA-binding domain	Domain
PF11851	DUF3371	432 → 574	Domain of unknown function (DUF3371)	Family

Tissue specificity

TISSUE SPECIFICITY: Ubiquitous in fetal and adult tissues. {ECO:0000269|PubMed:8986805}.

Sequence

MSHAAEPARDGVEASAEGPRAVFVLLEERRPADSAQLLSLNSLLPESGIVADIELENVLD
PDSFYELKSQPLPLRSSLPISLQATPATPATLSASSSAGGSRTPAMSSSSSSRVLLRQQL
MRAQAQEQERRERREQAAAAPFPSPAPASPAISVVGVSAGGHTLSRPPPAQVPREVLKVQ
THLENPTRYHLQQARRQQVKQYLSTTLGPKLASQALTPPPGPASAQPLPAPEAAHTTGPT
GSAPNSPMALLTIGSSSEKEIDDVIDEIISLESSYNDEMLSYLPGGTTGLQLPSTLPVSG
NLLDVYSSQGVATPAITVSNSCPAELPNIKREISETEAKALLKERQKKDNHNLIERRRRF
NINDRIKELGTLIPKSSDPEMRWNKGTILKASVDYIRKLQKEQQRSKDLESRQRSLEQAN
RSLQLRIQELELQAQIHGLPVPPTPGLLSLATTSASDSLKPEQLDIEEEGRPGAATFHVG
GGPAQNAPHQQPPAPPSDALLDLHFPSDHLGDLGDPFHLGLEDILMEEEEGVVGGLSGGA
LSPLRAASDPLLSSVSPAVSKASSRRSSFSMEEES

Sequence length

575

Interactions

View interactions

	KEGG
	Mitophagy - animal Transcriptional misregulation in cancer Renal cell carcinoma

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
Intellectual developmental disorder, X-linked, syndromic, with pigmentary mosaicism and coarse facies	Pathogenic; Likely pathogenic	rs2147777346, rs2147777343, rs2147776381, rs2064742925, rs2147776168, rs2147776463, rs2147776445, rs2520162033, rs2520164693, rs2520162018	RCV001732146 RCV001733804 RCV001733805 RCV001733806 RCV001733807 View all (8 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Intellectual disability	Likely pathogenic	rs2064742830	RCV001255376	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neurodevelopmental abnormality	Likely pathogenic; Pathogenic	rs2064742925	RCV001732101	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neurodevelopmental disorder	Pathogenic	rs2147777346	RCV001374939	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Renal cell carcinoma	Likely pathogenic; Pathogenic	rs2064742925	RCV004798904	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Thyroid cancer, nonmedullary, 1	Pathogenic	rs2147776168	RCV005920690	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (8)

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.
CARCINOMA, RENAL CELL	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COMPLEX NEURODEVELOPMENTAL DISORDER	—	GenCC	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEURODEVELOPMENTAL DISORDERS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NON-SPECIFIC SYNDROMIC INTELLECTUAL DISABILITY	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Renal cell carcinoma, Xp11-associated	Uncertain significance; Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TFE3-Associated Neurodevelopmental disorder	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TFE3-related disorder	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
X-LINKED SYNDROMIC COMPLEX NEURODEVELOPMENTAL DISORDER	—	CTD, ClinGen	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (109)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Acute monocytic leukemia	Monocytic Leukemia	BEFREE	27865795		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adenoid Cystic Carcinoma	Adenocarcinoma	BEFREE	25485635		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adrenocortical carcinoma	Adrenocortical carcinoma	BEFREE	21279521		★★★★★ ★☆☆☆☆ Found in Text Mining only
Alveolar Soft Part Sarcoma	Alveolar Sarcoma	BEFREE	11244503, 11438465, 12719541, 12766578, 12973047, 15952162, 17283122, 17543078, 18094412, 18176180, 18382356, 18713311, 18714394, 19472090, 19636271 View all (33 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Alveolar Soft Part Sarcoma	Alveolar Sarcoma	ORPHANET_DG	21279521		★★★★★ ★☆☆☆☆ Found in Text Mining only
Alveolar soft tissue sarcoma	Alveolar Sarcoma	Orphanet			★★★★★ ★☆☆☆☆ Found in Text Mining only
Appendicitis	Appendicitis	BEFREE	23451753		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	29865970		★★★★★ ★☆☆☆☆ Found in Text Mining only
Burkitt Lymphoma	Burkitt`s Lymphoma	BEFREE	12719541		★★★★★ ★☆☆☆☆ Found in Text Mining only
Burkitt Lymphoma	Burkitt lymphoma	Pubtator	12719541	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Calcinosis	Calcinosis	Pubtator	29713041	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	27673450, 35396773	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	12459622, 12766578, 15316311, 15848741, 18344867, 18358634, 19494850, 21602817, 24136829, 25970683, 27450657, 29333109		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Adenoid Cystic	Adenoid cystic carcinoma	Pubtator	25485635	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Medullary	Medullary carcinoma	Pubtator	26415891	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Pancreatic Ductal	Pancreatic ductal carcinoma	Pubtator	30030118	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Pancreatic Ductal	Pancreatic ductal carcinoma	Pubtator	31381571	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	11438465, 12719541, 18278810, 19396149, 20154303, 20421778, 20665500, 20679884, 21504709, 21602817, 22037260, 22100019, 22446944, 23628822, 23817689 View all (62 more)	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Chromophobe Renal Cell Carcinoma	Chromophobe Carcinoma	BEFREE	30232607		★★★★★ ★☆☆☆☆ Found in Text Mining only
Chromophobe Renal Cell Carcinoma	Chromophobe Carcinoma	CTD_human_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Chronic Kidney Diseases	Kidney Disease	BEFREE	28322484, 30908700		★★★★★ ★☆☆☆☆ Found in Text Mining only
Chronic Pain	Chronic pain	Pubtator	35699228	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Clear Cell Sarcoma of Soft Tissue	Sarcoma	BEFREE	16766266		★★★★★ ★☆☆☆☆ Found in Text Mining only
Clear-cell metastatic renal cell carcinoma	Renal Carcinoma	BEFREE	23715164, 25544614		★★★★★ ★☆☆☆☆ Found in Text Mining only
Collecting Duct Carcinoma of the Kidney	Renal Carcinoma	BEFREE	29713041		★★★★★ ★☆☆☆☆ Found in Text Mining only
Collecting Duct Carcinoma of the Kidney	Renal Carcinoma	CTD_human_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital Mesoblastic Nephroma	Congenital Mesoblastic Nephroma	BEFREE	16807766		★★★★★ ★☆☆☆☆ Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	BEFREE	11717438, 12351585, 15138551, 15994295, 16010549, 16807766, 17121198, 17149613, 17656236, 17905124, 18785115, 19246164, 19298350, 19563413, 20154303 View all (67 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	CTD_human_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Dermatofibrosarcoma	Dermatofibrosarcoma	BEFREE	31043173		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dermatofibrosarcoma Protuberans	Dermatofibrosarcoma Protuberans	BEFREE	31043173		★★★★★ ★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Development Disorder	BEFREE	30595499, 31833172		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	16327801, 22297304, 23269357		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	16327801, 22297304, 23269357		★★★★★ ★☆☆☆☆ Found in Text Mining only
Epithelioid hemangioendothelioma	Epithelioid Hemangioendothelioma	BEFREE	23737213, 25680571, 25817592, 26050962, 26840265, 28009608, 28585251, 29996478, 31467228, 31537895		★★★★★ ★☆☆☆☆ Found in Text Mining only
Epithelioid hemangioendothelioma	Epithelioid Hemangioendothelioma	ORPHANET_DG	24986479		★★★★★ ★☆☆☆☆ Found in Text Mining only
Epithelioid hemangioendothelioma	Epithelioid Hemangioendothelioma	Orphanet			★★★★★ ★☆☆☆☆ Found in Text Mining only
Epithelioma	Epithelioma	BEFREE	28315422		★★★★★ ★☆☆☆☆ Found in Text Mining only
Fatty Liver	Fatty liver	Pubtator	26999124	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Fibromatosis, Aggressive	Fibromatosis	BEFREE	31043173		★★★★★ ★☆☆☆☆ Found in Text Mining only
Focal cortical dysplasia of Taylor	Focal cortical dysplasia	Pubtator	39486419	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Gastrointestinal Stromal Tumors	Gastrointestinal stromal tumor	Pubtator	31043173, 37528481	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Giant Cell Fibroblastoma	Giant Cell Fibroblastoma	BEFREE	31043173		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	35269968, 35757013	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Gliosarcoma	Gliosarcoma	Pubtator	35757013, 38358216	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hemangiosarcoma	Hemangiosarcoma	BEFREE	24384851		★★★★★ ★☆☆☆☆ Found in Text Mining only
Histiocytoma, Angiomatoid Fibrous	Histiocytoma	BEFREE	17724745		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hurthle Cell Tumor	Tumor	BEFREE	30232607		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hyperglycemia	Hyperglycemia	BEFREE	23269357		★★★★★ ★☆☆☆☆ Found in Text Mining only
Inflammatory Myofibroblastic Tumor	Inflammatory Myofibroblastic Tumor	BEFREE	30382607		★★★★★ ★☆☆☆☆ Found in Text Mining only
Islet Cell Tumor	Islet Cell Tumor	BEFREE	30030118		★★★★★ ★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney disease	Pubtator	36740682	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Kidney Failure Chronic	Kidney failure	Pubtator	18278810	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Kidney Neoplasm	Kidney Neoplasm	BEFREE	11438465, 12719541, 18358634, 19065101, 19396149, 21424937, 25582502, 28713889, 30787990, 31277953, 31519159		★★★★★ ★☆☆☆☆ Found in Text Mining only
Kidney Neoplasms	Kidney neoplasm	Pubtator	11438465, 12719541, 15992428, 23038766, 24228124, 24735727, 26415891, 26975036, 28713889, 38599381, 40442772	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	27865795		★★★★★ ★☆☆☆☆ Found in Text Mining only
Liposarcoma, Dedifferentiated	liposarcoma	BEFREE	30382607		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	34660181	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	29865970		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of kidney	Kidney Cancer	BEFREE	17293662, 19809274, 23038766, 23598965, 25048860, 26274027, 26844676, 28315422, 28411178, 28969862, 29722173, 30061365		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	11717438, 20438411, 22297304, 22498819, 23288701, 23529139, 26045774, 26975036, 27979841, 28208226, 28851811, 29216400, 29713041, 30849994, 30986487		★★★★★ ★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	28877054, 30705290		★★★★★ ★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	30705290, 32881934	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Metabolic Diseases	Metabolic Diseases	BEFREE	22297304		★★★★★ ★☆☆☆☆ Found in Text Mining only
Metabolic Diseases	Metabolic syndrome	Pubtator	26999124	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Metabolic Syndrome X	Metabolic Syndrome	BEFREE	17279346		★★★★★ ★☆☆☆☆ Found in Text Mining only
Microphthalmos	Microphthalmos	BEFREE	10707962, 19396149, 26414466, 30591082, 31160892, 9480987		★★★★★ ★☆☆☆☆ Found in Text Mining only
MiT family translocation renal cell carcinoma	Renal Carcinoma	BEFREE	20421778, 20679884, 22100019, 22446944, 23817689, 23957913, 24228124, 24339735, 25002378, 25268941, 25984679, 26045774, 26415891, 26563505, 28106924 View all (15 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
MiT family translocation renal cell carcinoma	Renal Carcinoma	ORPHANET_DG	22207547, 23426439		★★★★★ ★☆☆☆☆ Found in Text Mining only
MiT family translocation renal cell carcinoma	Renal Carcinoma	Orphanet			★★★★★ ★☆☆☆☆ Found in Text Mining only
Mitochondrial Diseases	Mitochondrial disease	Pubtator	33019842, 37269887	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	11244503, 11438465, 12459622, 12461749, 12766578, 12973047, 15138551, 15316311, 15992428, 16807766, 16880148, 18094412, 18382356, 18779729, 18785115 View all (59 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nephrotic Syndrome	Nephrotic Syndrome	BEFREE	21965162		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	19606011, 30986487		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neurodevelopmental Disorders	Neurodevelopmental Disorders	BEFREE	31833172		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	30415923		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	31973910, 37528481	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Oxyphilic Adenoma	Oxyphilic Adenoma	BEFREE	30232607		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancreatic Endocrine Carcinoma	Pancreatic Endocrine Carcinoma	BEFREE	30030118		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	30030118	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Papillary Renal Cell Carcinoma	Papillary Renal Carcinoma	BEFREE	11717438, 12213728, 31833172, 8406438, 8872474, 9393982		★★★★★ ★☆☆☆☆ Found in Text Mining only
Papillary Renal Cell Carcinoma	Papillary Renal Carcinoma	CTD_human_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Papillary thyroid carcinoma	Papillary thyroid carcinoma	BEFREE	29713041		★★★★★ ★☆☆☆☆ Found in Text Mining only
Perivascular Epithelioid Cell Neoplasms	Perivascular Epithelioid Neoplasms	LHGDN	18510571		★★★★★ ★☆☆☆☆ Found in Text Mining only
Perivascular Epithelioid Cell Neoplasms	Perivascular Epithelioid Neoplasms	BEFREE	19065101, 19606011, 20871214, 23224603, 23451753, 23711163, 23797724, 25239799, 25337301, 25517951, 25651471, 26258755, 26274027, 26385848, 26844676 View all (12 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Psammomatous Meningioma	Psammomatous Meningioma	BEFREE	20683695		★★★★★ ★☆☆☆☆ Found in Text Mining only
Renal carcinoma	Renal Carcinoma	BEFREE	11313942, 12917640, 15383938, 15747097, 15992428, 16766266, 17293662, 18358634, 19809274, 20683695, 22207547, 23038766, 23957913, 28315422, 28411178, 28969862, 29722173, 30061365 View all (3 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	BEFREE	11244503, 11313942, 11358836, 11438465, 11717438, 12213728, 12719541, 12837690, 12917640, 15138551, 15316311, 15383938, 15747097, 15992428, 15994295 View all (104 more)		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Renal Cell Carcinoma	Renal Carcinoma	LHGDN	17905124, 18278810		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Renal Cell Carcinoma	Renal Carcinoma	HPO_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Renal Cell Carcinoma	Renal Carcinoma	CTD_human_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Rhabdomyosarcoma	Rhabdomyosarcoma	BEFREE	21504709		★★★★★ ★☆☆☆☆ Found in Text Mining only
Sarcoma	Sarcoma	BEFREE	11244503, 19472090, 20512480, 30382607		★★★★★ ★☆☆☆☆ Found in Text Mining only
Sarcoma	Sarcoma	LHGDN	18176180		★★★★★ ★☆☆☆☆ Found in Text Mining only
Sarcoma	Sarcoma	Pubtator	22949933, 29104083, 30459475	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Sarcoma Alveolar Soft Part	Sarcoma	Pubtator	11438465, 12719541, 20421778, 21602817, 23828314, 24427344, 24493828, 26369552, 26415891, 27673450, 28766250, 29216400, 30458744, 31467228, 31782115 View all (6 more)	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Sarcomatoid Renal Cell Carcinoma	Renal Carcinoma	CTD_human_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Sex Cord-Stromal Tumor	Sex Cord-Stromal Tumor	BEFREE	28982854		★★★★★ ★☆☆☆☆ Found in Text Mining only
Small Cell Lung Carcinoma	Small cell lung carcinoma	Pubtator	33899786	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Soft Tissue Neoplasms	Soft Tissue Neoplasms	BEFREE	17543078		★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	35462576	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of the head and neck	Carcinoma Of The Head And Neck	BEFREE	26872381		★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of tongue	Tongue carcinoma	BEFREE	29149494		★★★★★ ★☆☆☆☆ Found in Text Mining only
Thyroid Cancer Papillary	Papillary thyroid cancer	Pubtator	29713041, 34660181	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Tuberous Sclerosis	Tuberous sclerosis complex	Pubtator	39486419	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	36705569	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Vascular Neoplasms	Vascular neoplasm	BEFREE	30382607		★★★★★ ★☆☆☆☆ Found in Text Mining only
Wilms Tumor	Wilms tumor	Pubtator	30458744	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Wiskott-Aldrich Syndrome	Wiskott-Aldrich Syndrome	BEFREE	8104859		★★★★★ ★☆☆☆☆ Found in Text Mining only

TFE3 (transcription factor binding to IGHM enhancer 3)