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	6049
Gene name	Ring finger protein 6
Gene symbol	RNF6
Synonyms (NCBI Gene)	-
Chromosome	13
Chromosome location	13q12.13
Summary	The protein encoded by this gene contains a RING-H2 finger motif. Deletions and mutations in this gene were detected in esophageal squamous cell carcinoma (ESCC), suggesting that this protein may be a potential tumor suppressor. Studies of the mouse count

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SNP ID	Visualize variation	Clinical significance	Consequence
rs121434522	C>T	Pathogenic	Missense variant, coding sequence variant
rs121434523	C>T	Pathogenic	Intron variant, missense variant, coding sequence variant
rs121434524	C>T	Pathogenic	Intron variant, missense variant, coding sequence variant

262

Show/Hide all (262)

miRTarBase ID	miRNA	Experiments	Reference
MIRT021102	hsa-miR-186-5p	Sequencing	20371350
MIRT024905	hsa-miR-215-5p	Microarray	19074876
MIRT026154	hsa-miR-192-5p	Microarray	19074876
MIRT029039	hsa-miR-26b-5p	Sequencing	20371350
MIRT038456	hsa-miR-296-3p	CLASH	23622248
MIRT499516	hsa-miR-4803	PAR-CLIP	20371350
MIRT499515	hsa-miR-543	PAR-CLIP	20371350
MIRT554674	hsa-miR-181a-5p	PAR-CLIP	20371350
MIRT554673	hsa-miR-181b-5p	PAR-CLIP	20371350
MIRT554672	hsa-miR-181c-5p	PAR-CLIP	20371350
MIRT554671	hsa-miR-181d-5p	PAR-CLIP	20371350
MIRT554670	hsa-miR-4262	PAR-CLIP	20371350
MIRT499514	hsa-miR-548p	PAR-CLIP	20371350
MIRT499513	hsa-miR-802	PAR-CLIP	20371350
MIRT068213	hsa-miR-5011-5p	PAR-CLIP	20371350
MIRT499512	hsa-miR-5697	PAR-CLIP	20371350
MIRT554667	hsa-miR-4691-3p	PAR-CLIP	20371350
MIRT499511	hsa-miR-3143	PAR-CLIP	20371350
MIRT068210	hsa-miR-190a-3p	PAR-CLIP	20371350
MIRT499510	hsa-miR-1297	PAR-CLIP	20371350
MIRT499509	hsa-miR-26a-5p	PAR-CLIP	20371350
MIRT029039	hsa-miR-26b-5p	PAR-CLIP	20371350
MIRT499508	hsa-miR-4465	PAR-CLIP	20371350
MIRT554666	hsa-miR-3157-5p	PAR-CLIP	20371350
MIRT499507	hsa-miR-302c-5p	PAR-CLIP	20371350
MIRT499506	hsa-miR-498	PAR-CLIP	20371350
MIRT554677	hsa-miR-3606-3p	PAR-CLIP	21572407
MIRT554676	hsa-miR-513a-3p	PAR-CLIP	21572407
MIRT554675	hsa-miR-513c-3p	PAR-CLIP	21572407
MIRT499516	hsa-miR-4803	PAR-CLIP	21572407
MIRT499515	hsa-miR-543	PAR-CLIP	21572407
MIRT554674	hsa-miR-181a-5p	PAR-CLIP	21572407
MIRT554673	hsa-miR-181b-5p	PAR-CLIP	21572407
MIRT554672	hsa-miR-181c-5p	PAR-CLIP	21572407
MIRT554671	hsa-miR-181d-5p	PAR-CLIP	21572407
MIRT554670	hsa-miR-4262	PAR-CLIP	21572407
MIRT499514	hsa-miR-548p	PAR-CLIP	21572407
MIRT499513	hsa-miR-802	PAR-CLIP	21572407
MIRT068213	hsa-miR-5011-5p	PAR-CLIP	21572407
MIRT554669	hsa-miR-4728-3p	PAR-CLIP	21572407
MIRT554668	hsa-miR-5579-5p	PAR-CLIP	21572407
MIRT499512	hsa-miR-5697	PAR-CLIP	21572407
MIRT554667	hsa-miR-4691-3p	PAR-CLIP	21572407
MIRT499511	hsa-miR-3143	PAR-CLIP	21572407
MIRT068210	hsa-miR-190a-3p	PAR-CLIP	21572407
MIRT499510	hsa-miR-1297	PAR-CLIP	21572407
MIRT499509	hsa-miR-26a-5p	PAR-CLIP	21572407
MIRT029039	hsa-miR-26b-5p	PAR-CLIP	21572407
MIRT499508	hsa-miR-4465	PAR-CLIP	21572407
MIRT554666	hsa-miR-3157-5p	PAR-CLIP	21572407
MIRT276002	hsa-miR-448	PAR-CLIP	21572407
MIRT499506	hsa-miR-498	PAR-CLIP	21572407
MIRT546727	hsa-miR-548at-5p	PAR-CLIP	21572407
MIRT546726	hsa-miR-21-5p	PAR-CLIP	21572407
MIRT546725	hsa-miR-590-5p	PAR-CLIP	21572407
MIRT546724	hsa-miR-569	PAR-CLIP	21572407
MIRT534643	hsa-miR-16-1-3p	PAR-CLIP	22012620
MIRT534642	hsa-miR-1227-3p	PAR-CLIP	22012620
MIRT534640	hsa-miR-5590-5p	PAR-CLIP	22012620
MIRT534641	hsa-miR-550b-2-5p	PAR-CLIP	22012620
MIRT499516	hsa-miR-4803	PAR-CLIP	24398324
MIRT499515	hsa-miR-543	PAR-CLIP	24398324
MIRT499514	hsa-miR-548p	PAR-CLIP	24398324
MIRT499513	hsa-miR-802	PAR-CLIP	24398324
MIRT068213	hsa-miR-5011-5p	PAR-CLIP	24398324
MIRT499512	hsa-miR-5697	PAR-CLIP	24398324
MIRT499511	hsa-miR-3143	PAR-CLIP	24398324
MIRT068210	hsa-miR-190a-3p	PAR-CLIP	24398324
MIRT499510	hsa-miR-1297	PAR-CLIP	24398324
MIRT499509	hsa-miR-26a-5p	PAR-CLIP	24398324
MIRT029039	hsa-miR-26b-5p	PAR-CLIP	24398324
MIRT499508	hsa-miR-4465	PAR-CLIP	24398324
MIRT499507	hsa-miR-302c-5p	PAR-CLIP	24398324
MIRT499506	hsa-miR-498	PAR-CLIP	24398324
MIRT439754	hsa-miR-136-5p	HITS-CLIP	24374217
MIRT439754	hsa-miR-136-5p	HITS-CLIP	24374217
MIRT499516	hsa-miR-4803	PAR-CLIP	20371350
MIRT499515	hsa-miR-543	PAR-CLIP	20371350
MIRT554674	hsa-miR-181a-5p	PAR-CLIP	20371350
MIRT554673	hsa-miR-181b-5p	PAR-CLIP	20371350
MIRT554672	hsa-miR-181c-5p	PAR-CLIP	20371350
MIRT554671	hsa-miR-181d-5p	PAR-CLIP	20371350
MIRT554670	hsa-miR-4262	PAR-CLIP	20371350
MIRT499514	hsa-miR-548p	PAR-CLIP	20371350
MIRT499513	hsa-miR-802	PAR-CLIP	20371350
MIRT068213	hsa-miR-5011-5p	PAR-CLIP	20371350
MIRT499512	hsa-miR-5697	PAR-CLIP	20371350
MIRT554667	hsa-miR-4691-3p	PAR-CLIP	20371350
MIRT499511	hsa-miR-3143	PAR-CLIP	20371350
MIRT068210	hsa-miR-190a-3p	PAR-CLIP	20371350
MIRT499510	hsa-miR-1297	PAR-CLIP	20371350
MIRT499509	hsa-miR-26a-5p	PAR-CLIP	20371350
MIRT029039	hsa-miR-26b-5p	PAR-CLIP	20371350
MIRT499508	hsa-miR-4465	PAR-CLIP	20371350
MIRT554666	hsa-miR-3157-5p	PAR-CLIP	20371350
MIRT499507	hsa-miR-302c-5p	PAR-CLIP	20371350
MIRT499506	hsa-miR-498	PAR-CLIP	20371350
MIRT554677	hsa-miR-3606-3p	PAR-CLIP	21572407
MIRT554676	hsa-miR-513a-3p	PAR-CLIP	21572407
MIRT554675	hsa-miR-513c-3p	PAR-CLIP	21572407
MIRT499516	hsa-miR-4803	PAR-CLIP	21572407
MIRT499515	hsa-miR-543	PAR-CLIP	21572407
MIRT554674	hsa-miR-181a-5p	PAR-CLIP	21572407
MIRT554673	hsa-miR-181b-5p	PAR-CLIP	21572407
MIRT554672	hsa-miR-181c-5p	PAR-CLIP	21572407
MIRT554671	hsa-miR-181d-5p	PAR-CLIP	21572407
MIRT554670	hsa-miR-4262	PAR-CLIP	21572407
MIRT499514	hsa-miR-548p	PAR-CLIP	21572407
MIRT499513	hsa-miR-802	PAR-CLIP	21572407
MIRT068213	hsa-miR-5011-5p	PAR-CLIP	21572407
MIRT554669	hsa-miR-4728-3p	PAR-CLIP	21572407
MIRT554668	hsa-miR-5579-5p	PAR-CLIP	21572407
MIRT499512	hsa-miR-5697	PAR-CLIP	21572407
MIRT554667	hsa-miR-4691-3p	PAR-CLIP	21572407
MIRT499511	hsa-miR-3143	PAR-CLIP	21572407
MIRT068210	hsa-miR-190a-3p	PAR-CLIP	21572407
MIRT499510	hsa-miR-1297	PAR-CLIP	21572407
MIRT499509	hsa-miR-26a-5p	PAR-CLIP	21572407
MIRT029039	hsa-miR-26b-5p	PAR-CLIP	21572407
MIRT499508	hsa-miR-4465	PAR-CLIP	21572407
MIRT554666	hsa-miR-3157-5p	PAR-CLIP	21572407
MIRT276002	hsa-miR-448	PAR-CLIP	21572407
MIRT499506	hsa-miR-498	PAR-CLIP	21572407
MIRT546727	hsa-miR-548at-5p	PAR-CLIP	21572407
MIRT546726	hsa-miR-21-5p	PAR-CLIP	21572407
MIRT546725	hsa-miR-590-5p	PAR-CLIP	21572407
MIRT546724	hsa-miR-569	PAR-CLIP	21572407
MIRT534643	hsa-miR-16-1-3p	PAR-CLIP	22012620
MIRT534642	hsa-miR-1227-3p	PAR-CLIP	22012620
MIRT534640	hsa-miR-5590-5p	PAR-CLIP	22012620
MIRT534641	hsa-miR-550b-2-5p	PAR-CLIP	22012620
MIRT499516	hsa-miR-4803	PAR-CLIP	24398324
MIRT499515	hsa-miR-543	PAR-CLIP	24398324
MIRT499514	hsa-miR-548p	PAR-CLIP	24398324
MIRT499513	hsa-miR-802	PAR-CLIP	24398324
MIRT068213	hsa-miR-5011-5p	PAR-CLIP	24398324
MIRT499512	hsa-miR-5697	PAR-CLIP	24398324
MIRT499511	hsa-miR-3143	PAR-CLIP	24398324
MIRT068210	hsa-miR-190a-3p	PAR-CLIP	24398324
MIRT499510	hsa-miR-1297	PAR-CLIP	24398324
MIRT499509	hsa-miR-26a-5p	PAR-CLIP	24398324
MIRT029039	hsa-miR-26b-5p	PAR-CLIP	24398324
MIRT499508	hsa-miR-4465	PAR-CLIP	24398324
MIRT499507	hsa-miR-302c-5p	PAR-CLIP	24398324
MIRT499506	hsa-miR-498	PAR-CLIP	24398324
MIRT1313585	hsa-miR-106a	CLIP-seq
MIRT1313586	hsa-miR-106b	CLIP-seq
MIRT1313587	hsa-miR-1303	CLIP-seq
MIRT1313588	hsa-miR-139-3p	CLIP-seq
MIRT1313589	hsa-miR-154	CLIP-seq
MIRT1313590	hsa-miR-17	CLIP-seq
MIRT1313591	hsa-miR-181a	CLIP-seq
MIRT1313592	hsa-miR-181b	CLIP-seq
MIRT1313593	hsa-miR-181c	CLIP-seq
MIRT1313594	hsa-miR-181d	CLIP-seq
MIRT1313595	hsa-miR-20a	CLIP-seq
MIRT1313596	hsa-miR-20b	CLIP-seq
MIRT1313597	hsa-miR-219-5p	CLIP-seq
MIRT1313598	hsa-miR-302a	CLIP-seq
MIRT1313599	hsa-miR-302b	CLIP-seq
MIRT1313600	hsa-miR-302c	CLIP-seq
MIRT1313601	hsa-miR-302d	CLIP-seq
MIRT1313602	hsa-miR-302e	CLIP-seq
MIRT1313603	hsa-miR-3675-3p	CLIP-seq
MIRT1313604	hsa-miR-372	CLIP-seq
MIRT1313605	hsa-miR-373	CLIP-seq
MIRT1313606	hsa-miR-3908	CLIP-seq
MIRT1313607	hsa-miR-3919	CLIP-seq
MIRT1313608	hsa-miR-3942-5p	CLIP-seq
MIRT1313609	hsa-miR-3944-5p	CLIP-seq
MIRT1313610	hsa-miR-433	CLIP-seq
MIRT1313611	hsa-miR-4427	CLIP-seq
MIRT1313612	hsa-miR-4680-3p	CLIP-seq
MIRT1313613	hsa-miR-4684-5p	CLIP-seq
MIRT1313614	hsa-miR-4703-5p	CLIP-seq
MIRT1313615	hsa-miR-4756-3p	CLIP-seq
MIRT1313616	hsa-miR-4760-5p	CLIP-seq
MIRT1313617	hsa-miR-4766-3p	CLIP-seq
MIRT1313618	hsa-miR-4782-3p	CLIP-seq
MIRT1313619	hsa-miR-519d	CLIP-seq
MIRT1313620	hsa-miR-520a-3p	CLIP-seq
MIRT1313621	hsa-miR-520b	CLIP-seq
MIRT1313622	hsa-miR-520c-3p	CLIP-seq
MIRT1313623	hsa-miR-520d-3p	CLIP-seq
MIRT1313624	hsa-miR-520e	CLIP-seq
MIRT1313625	hsa-miR-520f	CLIP-seq
MIRT1313626	hsa-miR-548ac	CLIP-seq
MIRT1313627	hsa-miR-548ae	CLIP-seq
MIRT1313628	hsa-miR-548aj	CLIP-seq
MIRT1313629	hsa-miR-548am	CLIP-seq
MIRT1313630	hsa-miR-548d-3p	CLIP-seq
MIRT1313631	hsa-miR-548t	CLIP-seq
MIRT1313632	hsa-miR-548x	CLIP-seq
MIRT1313633	hsa-miR-548z	CLIP-seq
MIRT1313634	hsa-miR-659	CLIP-seq
MIRT1313635	hsa-miR-877	CLIP-seq
MIRT1313636	hsa-miR-93	CLIP-seq
MIRT1313637	hsa-miR-3529	CLIP-seq
MIRT1313638	hsa-miR-3674	CLIP-seq
MIRT1313639	hsa-miR-379	CLIP-seq
MIRT1313640	hsa-miR-409-3p	CLIP-seq
MIRT1313641	hsa-miR-410	CLIP-seq
MIRT1313642	hsa-miR-4451	CLIP-seq
MIRT1313643	hsa-miR-4511	CLIP-seq
MIRT1313644	hsa-miR-4650-3p	CLIP-seq
MIRT1313645	hsa-miR-548b-3p	CLIP-seq
MIRT1313646	hsa-miR-599	CLIP-seq
MIRT2093376	hsa-miR-1273e	CLIP-seq
MIRT2093377	hsa-miR-137	CLIP-seq
MIRT1313588	hsa-miR-139-3p	CLIP-seq
MIRT1313597	hsa-miR-219-5p	CLIP-seq
MIRT2093378	hsa-miR-34b	CLIP-seq
MIRT1313607	hsa-miR-3919	CLIP-seq
MIRT2093379	hsa-miR-4327	CLIP-seq
MIRT2093380	hsa-miR-4719	CLIP-seq
MIRT1313615	hsa-miR-4756-3p	CLIP-seq
MIRT1313616	hsa-miR-4760-5p	CLIP-seq
MIRT1313618	hsa-miR-4782-3p	CLIP-seq
MIRT2093381	hsa-miR-512-5p	CLIP-seq
MIRT2093382	hsa-miR-626	CLIP-seq
MIRT2093380	hsa-miR-4719	CLIP-seq
MIRT1313587	hsa-miR-1303	CLIP-seq
MIRT1313589	hsa-miR-154	CLIP-seq
MIRT1313606	hsa-miR-3908	CLIP-seq
MIRT1313608	hsa-miR-3942-5p	CLIP-seq
MIRT1313614	hsa-miR-4703-5p	CLIP-seq
MIRT1313617	hsa-miR-4766-3p	CLIP-seq
MIRT1313626	hsa-miR-548ac	CLIP-seq
MIRT1313627	hsa-miR-548ae	CLIP-seq
MIRT1313628	hsa-miR-548aj	CLIP-seq
MIRT1313629	hsa-miR-548am	CLIP-seq
MIRT1313630	hsa-miR-548d-3p	CLIP-seq
MIRT1313632	hsa-miR-548x	CLIP-seq
MIRT1313633	hsa-miR-548z	CLIP-seq
MIRT1313634	hsa-miR-659	CLIP-seq
MIRT1313635	hsa-miR-877	CLIP-seq
MIRT1313603	hsa-miR-3675-3p	CLIP-seq
MIRT2465988	hsa-miR-4282	CLIP-seq
MIRT1313613	hsa-miR-4684-5p	CLIP-seq
MIRT2613561	hsa-miR-1261	CLIP-seq
MIRT2613562	hsa-miR-1299	CLIP-seq
MIRT1313587	hsa-miR-1303	CLIP-seq
MIRT1313589	hsa-miR-154	CLIP-seq
MIRT2613563	hsa-miR-3149	CLIP-seq
MIRT2613564	hsa-miR-3686	CLIP-seq
MIRT1313606	hsa-miR-3908	CLIP-seq
MIRT1313608	hsa-miR-3942-5p	CLIP-seq
MIRT1313614	hsa-miR-4703-5p	CLIP-seq
MIRT2613565	hsa-miR-4742-3p	CLIP-seq
MIRT1313617	hsa-miR-4766-3p	CLIP-seq
MIRT2613566	hsa-miR-4778-5p	CLIP-seq
MIRT2613567	hsa-miR-4782-5p	CLIP-seq
MIRT2613568	hsa-miR-516b	CLIP-seq
MIRT1313626	hsa-miR-548ac	CLIP-seq
MIRT1313627	hsa-miR-548ae	CLIP-seq
MIRT1313628	hsa-miR-548aj	CLIP-seq
MIRT1313629	hsa-miR-548am	CLIP-seq
MIRT1313630	hsa-miR-548d-3p	CLIP-seq
MIRT1313632	hsa-miR-548x	CLIP-seq
MIRT1313633	hsa-miR-548z	CLIP-seq
MIRT1313634	hsa-miR-659	CLIP-seq
MIRT1313635	hsa-miR-877	CLIP-seq

Show/Hide all (37)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003677	Function	DNA binding	IEA
GO:0004842	Function	Ubiquitin-protein transferase activity	IMP	19345326
GO:0005515	Function	Protein binding	IPI	19345326
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IDA	19345326
GO:0005634	Component	Nucleus	IEA
GO:0005737	Component	Cytoplasm	IDA	19345326
GO:0005737	Component	Cytoplasm	IEA
GO:0006355	Process	Regulation of DNA-templated transcription	IMP	19345326
GO:0006511	Process	Ubiquitin-dependent protein catabolic process	IBA
GO:0006511	Process	Ubiquitin-dependent protein catabolic process	IEA
GO:0006511	Process	Ubiquitin-dependent protein catabolic process	ISS
GO:0008270	Function	Zinc ion binding	IEA
GO:0016567	Process	Protein ubiquitination	IBA
GO:0016567	Process	Protein ubiquitination	IEA
GO:0016605	Component	PML body	IEA
GO:0016740	Function	Transferase activity	IEA
GO:0030424	Component	Axon	IEA
GO:0030424	Component	Axon	ISS
GO:0030517	Process	Negative regulation of axon extension	IEA
GO:0030517	Process	Negative regulation of axon extension	ISS
GO:0031965	Component	Nuclear membrane	IDA
GO:0042995	Component	Cell projection	IEA
GO:0044314	Process	Protein K27-linked ubiquitination	IDA	19345326
GO:0045893	Process	Positive regulation of DNA-templated transcription	IBA
GO:0045893	Process	Positive regulation of DNA-templated transcription	IEA
GO:0045893	Process	Positive regulation of DNA-templated transcription	IMP	19345326
GO:0046872	Function	Metal ion binding	IEA
GO:0048675	Process	Axon extension	IEA
GO:0050681	Function	Nuclear androgen receptor binding	IPI	19345326
GO:0060765	Process	Regulation of androgen receptor signaling pathway	IMP	19345326
GO:0061630	Function	Ubiquitin protein ligase activity	IBA
GO:0061630	Function	Ubiquitin protein ligase activity	IEA
GO:0061630	Function	Ubiquitin protein ligase activity	ISS
GO:0070936	Process	Protein K48-linked ubiquitination	IEA
GO:0070936	Process	Protein K48-linked ubiquitination	ISS
GO:0085020	Process	Protein K6-linked ubiquitination	IDA	19345326

MIM	HGNC	e!Ensembl
604242	10069	ENSG00000127870

Q9Y252

Protein name

E3 ubiquitin-protein ligase RNF6 (EC 2.3.2.27)

Protein function

E3 ubiquitin-protein ligase mediating 'Lys-48'-linked polyubiquitination of LIMK1 and its subsequent targeting to the proteasome for degradation (By similarity). Negatively regulates axonal outgrowth through regulation of the LIMK1 turnover (By

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF13639	zf-RING_2	630 → 673	Ring finger domain	Domain

Tissue specificity

TISSUE SPECIFICITY: Weakly expressed in peripheral blood, spleen, prostate, testis and ovary (PubMed:19345326). According to a report, it is preferentially expressed in testis and ovary and hardly detected in other tissues (PubMed:18368307). {ECO:0000269|

Sequence

MNQSRSRSDGGSEETLPQDHNHHENERRWQQERLHREEAYYQFINELNDEDYRLMRDHNL
LGTPGEITSEELQQRLDGVKEQLASQPDLRDGTNYRDSEVPRESSHEDSLLEWLNTFRRT
GNATRSGQNGNQTWRAVSRTNPNNGEFRFSLEIHVNHENRGFEIHGEDYTDIPLSDSNRD
HTANRQQRSTSPVARRTRSQTSVNFNGSSSNIPRTRLASRGQNPAEGSFSTLGRLRNGIG
GAAGIPRANASRTNFSSHTNQSGGSELRQREGQRFGAAHVWENGARSNVTVRNTNQRLEP
IRLRSTSNSRSRSPIQRQSGTVYHNSQRESRPVQQTTRRSVRRRGRTRVFLEQDRERERR
GTAYTPFSNSRLVSRITVEEGEESSRSSTAVRRHPTITLDLQVRRIRPGENRDRDSIANR
TRSRVGLAENTVTIESNSGGFRRTISRLERSGIRTYVSTITVPLRRISENELVEPSSVAL
RSILRQIMTGFGELSSLMEADSESELQRNGQHLPDMHSELSNLGTDNNRSQHREGSSQDR
QAQGDSTEMHGENETTQPHTRNSDSRGGRQLRNPNNLVETGTLPILRLAHFFLLNESDDD
DRIRGLTKEQIDNLSTRHYEHNSIDSELGKICSVCISDYVTGNKLRQLPCMHEFHIHCID
RWLSENCTCPICRQPVLGSNIANNG

Sequence length

685

Interactions

View interactions

	Reactome
			Antigen processing: Ubiquitination & Proteasome degradation

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 (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Esophageal squamous cell carcinoma, somatic	Pathogenic	rs121434522, rs121434523, rs121434524	RCV000006054 RCV000006055 RCV000006056	★★★★★ ★★★★☆ 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.
ALZHEIMER DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETES MELLITUS	—	GWAS catalog	★★★★★ ★★☆☆☆ 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
ESOPHAGEAL CANCER	—	HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ESOPHAGEAL NEOPLASMS	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SQUAMOUS CELL CARCINOMA OF THE ESOPHAGUS	—	Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (43)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Benign neoplasm of esophagus	Benign neoplasm of esophagus	CGI_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	28223545		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	28223545, 31063232	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma in situ of esophagus	Esophageal Carcinoma	CGI_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	29288235, 29374067		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal Neoplasms	BEFREE	29374067		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	GWASCAT_DG	24509480, 28869590, 30718926		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	GWASDB_DG	24509480		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	CTD_human_DG	28869590		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Esophageal carcinoma	Esophageal Carcinoma	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Esophageal carcinoma	Esophageal Carcinoma	CGI_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophagus Neoplasm	CTD_human_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Esophageal Neoplasms	Esophagus Neoplasm	CGI_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Henoch-Schoenlein Purpura	Henoch-Schonlein Nephritis	BEFREE	12210342		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hereditary X-Linked Recessive Spastic Paraplegia	Spastic paraplegia	BEFREE	12580714		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hyperandrogenism	Hyperandrogenism	BEFREE	28860512		★★★★★ ★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	BEFREE	26971355, 28223545		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia	Leukemia	Pubtator	28223545, 35926709	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	29997504		★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	30496760		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	28223545		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of esophagus	Esophagus Neoplasm	CTD_human_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of esophagus	Esophagus Neoplasm	CGI_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	19345326, 28223545		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	30323630		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	29374067		★★★★★ ★☆☆☆☆ Found in Text Mining only
MASA SYNDROME (disorder)	MASA syndrome	BEFREE	9934976		★★★★★ ★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	BEFREE	31645658		★★★★★ ★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	Pubtator	31645658, 35926709	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple Sclerosis	BEFREE	28320130		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	12154016, 26971355, 29288235		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pelizaeus-Merzbacher Disease	Pelizaeus-Merzbacher disease	BEFREE	12580714, 8012387, 8782167, 9934976		★★★★★ ★☆☆☆☆ Found in Text Mining only
Polycystic Ovary Syndrome	Polycystic Ovary Syndrome	BEFREE	28860512		★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	19345326, 28223545		★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	28223545	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Retinoblastoma	Retinoblastoma	Pubtator	35369571	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of esophagus	Esophagus Neoplasm	BEFREE	12154016		★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of esophagus	Esophagus Neoplasm	ORPHANET_DG	12154016		★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of the esophagus	Esophageal Carcinoma	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Stomach Carcinoma	Stomach Carcinoma	BEFREE	30323630		★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	37904524	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	34081837	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

RNF6 (ring finger protein 6)