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	54894
Gene name	Ring finger protein 43
Gene symbol	RNF43
Synonyms (NCBI Gene)	RNF124SSPCSURCC
Chromosome	17
Chromosome location	17q22
Summary	The protein encoded by this gene is a RING-type E3 ubiquitin ligase and is predicted to contain a transmembrane domain, a protease-associated domain, an ectodomain, and a cytoplasmic RING domain. This protein is thought to negatively regulate Wnt signalin

Show/Hide all (2)

SNP ID	Visualize variation	Clinical significance	Consequence
rs786205215	G>A	Pathogenic	Coding sequence variant, stop gained
rs1567880628	G>A	Pathogenic	5 prime UTR variant, coding sequence variant, stop gained

241

Show/Hide all (241)

miRTarBase ID	miRNA	Experiments	Reference
MIRT019206	hsa-miR-335-5p	Microarray	18185580
MIRT1313266	hsa-miR-1184	CLIP-seq
MIRT1313267	hsa-miR-1205	CLIP-seq
MIRT1313268	hsa-miR-1224-3p	CLIP-seq
MIRT1313269	hsa-miR-1231	CLIP-seq
MIRT1313270	hsa-miR-1246	CLIP-seq
MIRT1313271	hsa-miR-1254	CLIP-seq
MIRT1313272	hsa-miR-1266	CLIP-seq
MIRT1313273	hsa-miR-1285	CLIP-seq
MIRT1313274	hsa-miR-1290	CLIP-seq
MIRT1313275	hsa-miR-135a	CLIP-seq
MIRT1313276	hsa-miR-135b	CLIP-seq
MIRT1313277	hsa-miR-1587	CLIP-seq
MIRT1313278	hsa-miR-1913	CLIP-seq
MIRT1313279	hsa-miR-1914	CLIP-seq
MIRT1313280	hsa-miR-1915	CLIP-seq
MIRT1313281	hsa-miR-1976	CLIP-seq
MIRT1313282	hsa-miR-2861	CLIP-seq
MIRT1313283	hsa-miR-3064-5p	CLIP-seq
MIRT1313284	hsa-miR-3116	CLIP-seq
MIRT1313285	hsa-miR-3120-5p	CLIP-seq
MIRT1313286	hsa-miR-3124-3p	CLIP-seq
MIRT1313287	hsa-miR-3125	CLIP-seq
MIRT1313288	hsa-miR-3126-5p	CLIP-seq
MIRT1313289	hsa-miR-3148	CLIP-seq
MIRT1313290	hsa-miR-3150a-3p	CLIP-seq
MIRT1313291	hsa-miR-3158-5p	CLIP-seq
MIRT1313292	hsa-miR-3166	CLIP-seq
MIRT1313293	hsa-miR-3167	CLIP-seq
MIRT1313294	hsa-miR-3175	CLIP-seq
MIRT1313295	hsa-miR-3176	CLIP-seq
MIRT1313296	hsa-miR-3187-5p	CLIP-seq
MIRT1313297	hsa-miR-324-3p	CLIP-seq
MIRT1313298	hsa-miR-326	CLIP-seq
MIRT1313299	hsa-miR-330-5p	CLIP-seq
MIRT1313300	hsa-miR-3652	CLIP-seq
MIRT1313301	hsa-miR-378g	CLIP-seq
MIRT1313302	hsa-miR-3909	CLIP-seq
MIRT1313303	hsa-miR-3914	CLIP-seq
MIRT1313304	hsa-miR-3916	CLIP-seq
MIRT1313305	hsa-miR-3922-3p	CLIP-seq
MIRT1313306	hsa-miR-3928	CLIP-seq
MIRT1313307	hsa-miR-3942-3p	CLIP-seq
MIRT1313308	hsa-miR-4270	CLIP-seq
MIRT1313309	hsa-miR-4286	CLIP-seq
MIRT1313310	hsa-miR-4292	CLIP-seq
MIRT1313311	hsa-miR-4300	CLIP-seq
MIRT1313312	hsa-miR-4301	CLIP-seq
MIRT1313313	hsa-miR-4307	CLIP-seq
MIRT1313314	hsa-miR-4308	CLIP-seq
MIRT1313315	hsa-miR-4418	CLIP-seq
MIRT1313316	hsa-miR-4419a	CLIP-seq
MIRT1313317	hsa-miR-4423-5p	CLIP-seq
MIRT1313318	hsa-miR-4430	CLIP-seq
MIRT1313319	hsa-miR-4441	CLIP-seq
MIRT1313320	hsa-miR-4474-5p	CLIP-seq
MIRT1313321	hsa-miR-4486	CLIP-seq
MIRT1313322	hsa-miR-4487	CLIP-seq
MIRT1313323	hsa-miR-4492	CLIP-seq
MIRT1313324	hsa-miR-4498	CLIP-seq
MIRT1313325	hsa-miR-4505	CLIP-seq
MIRT1313326	hsa-miR-4510	CLIP-seq
MIRT1313327	hsa-miR-4518	CLIP-seq
MIRT1313328	hsa-miR-4637	CLIP-seq
MIRT1313329	hsa-miR-4638-3p	CLIP-seq
MIRT1313330	hsa-miR-4639-3p	CLIP-seq
MIRT1313331	hsa-miR-4656	CLIP-seq
MIRT1313332	hsa-miR-4668-5p	CLIP-seq
MIRT1313333	hsa-miR-4675	CLIP-seq
MIRT1313334	hsa-miR-4718	CLIP-seq
MIRT1313335	hsa-miR-4726-3p	CLIP-seq
MIRT1313336	hsa-miR-4741	CLIP-seq
MIRT1313337	hsa-miR-4757-5p	CLIP-seq
MIRT1313338	hsa-miR-4771	CLIP-seq
MIRT1313339	hsa-miR-4802-3p	CLIP-seq
MIRT1313340	hsa-miR-490-5p	CLIP-seq
MIRT1313341	hsa-miR-509-3-5p	CLIP-seq
MIRT1313342	hsa-miR-509-5p	CLIP-seq
MIRT1313343	hsa-miR-544	CLIP-seq
MIRT1313344	hsa-miR-612	CLIP-seq
MIRT1313345	hsa-miR-615-5p	CLIP-seq
MIRT1313346	hsa-miR-661	CLIP-seq
MIRT1313347	hsa-miR-665	CLIP-seq
MIRT1313348	hsa-miR-762	CLIP-seq
MIRT1313349	hsa-miR-876-5p	CLIP-seq
MIRT1313350	hsa-miR-920	CLIP-seq
MIRT1313351	hsa-miR-939	CLIP-seq
MIRT1313272	hsa-miR-1266	CLIP-seq
MIRT1313282	hsa-miR-2861	CLIP-seq
MIRT1313283	hsa-miR-3064-5p	CLIP-seq
MIRT2093212	hsa-miR-3121-5p	CLIP-seq
MIRT2093213	hsa-miR-3127-5p	CLIP-seq
MIRT2093214	hsa-miR-3140-3p	CLIP-seq
MIRT2093215	hsa-miR-3146	CLIP-seq
MIRT1313290	hsa-miR-3150a-3p	CLIP-seq
MIRT1313294	hsa-miR-3175	CLIP-seq
MIRT2093216	hsa-miR-3184	CLIP-seq
MIRT2093217	hsa-miR-3591-5p	CLIP-seq
MIRT2093218	hsa-miR-365	CLIP-seq
MIRT1313300	hsa-miR-3652	CLIP-seq
MIRT2093219	hsa-miR-3918	CLIP-seq
MIRT2093220	hsa-miR-423-5p	CLIP-seq
MIRT2093221	hsa-miR-4284	CLIP-seq
MIRT1313311	hsa-miR-4300	CLIP-seq
MIRT1313318	hsa-miR-4430	CLIP-seq
MIRT2093222	hsa-miR-4437	CLIP-seq
MIRT2093223	hsa-miR-4473	CLIP-seq
MIRT1313322	hsa-miR-4487	CLIP-seq
MIRT1313325	hsa-miR-4505	CLIP-seq
MIRT1313327	hsa-miR-4518	CLIP-seq
MIRT2093224	hsa-miR-4646-3p	CLIP-seq
MIRT2093225	hsa-miR-4667-5p	CLIP-seq
MIRT2093226	hsa-miR-4671-3p	CLIP-seq
MIRT2093227	hsa-miR-4700-5p	CLIP-seq
MIRT1313337	hsa-miR-4757-5p	CLIP-seq
MIRT2093228	hsa-miR-512-3p	CLIP-seq
MIRT2093229	hsa-miR-520f	CLIP-seq
MIRT2093230	hsa-miR-544b	CLIP-seq
MIRT2093231	hsa-miR-587	CLIP-seq
MIRT2093232	hsa-miR-892b	CLIP-seq
MIRT1313350	hsa-miR-920	CLIP-seq
MIRT1313351	hsa-miR-939	CLIP-seq
MIRT2317813	hsa-miR-1207-3p	CLIP-seq
MIRT1313268	hsa-miR-1224-3p	CLIP-seq
MIRT2317814	hsa-miR-1226	CLIP-seq
MIRT2317815	hsa-miR-1236	CLIP-seq
MIRT2317816	hsa-miR-1245b-5p	CLIP-seq
MIRT1313270	hsa-miR-1246	CLIP-seq
MIRT1313271	hsa-miR-1254	CLIP-seq
MIRT1313272	hsa-miR-1266	CLIP-seq
MIRT2317817	hsa-miR-1270	CLIP-seq
MIRT2317818	hsa-miR-1286	CLIP-seq
MIRT1313274	hsa-miR-1290	CLIP-seq
MIRT2317819	hsa-miR-145	CLIP-seq
MIRT2317820	hsa-miR-15a	CLIP-seq
MIRT2317821	hsa-miR-15b	CLIP-seq
MIRT2317822	hsa-miR-16	CLIP-seq
MIRT2317823	hsa-miR-1825	CLIP-seq
MIRT2317824	hsa-miR-18a	CLIP-seq
MIRT2317825	hsa-miR-18b	CLIP-seq
MIRT2317826	hsa-miR-1910	CLIP-seq
MIRT1313278	hsa-miR-1913	CLIP-seq
MIRT1313280	hsa-miR-1915	CLIP-seq
MIRT2317827	hsa-miR-194	CLIP-seq
MIRT2317828	hsa-miR-195	CLIP-seq
MIRT2317829	hsa-miR-199a-5p	CLIP-seq
MIRT2317830	hsa-miR-199b-5p	CLIP-seq
MIRT2317831	hsa-miR-3064-3p	CLIP-seq
MIRT1313283	hsa-miR-3064-5p	CLIP-seq
MIRT2317832	hsa-miR-3065-3p	CLIP-seq
MIRT1313284	hsa-miR-3116	CLIP-seq
MIRT1313286	hsa-miR-3124-3p	CLIP-seq
MIRT1313287	hsa-miR-3125	CLIP-seq
MIRT1313288	hsa-miR-3126-5p	CLIP-seq
MIRT2317833	hsa-miR-3142	CLIP-seq
MIRT1313291	hsa-miR-3158-5p	CLIP-seq
MIRT2317834	hsa-miR-3161	CLIP-seq
MIRT1313292	hsa-miR-3166	CLIP-seq
MIRT1313293	hsa-miR-3167	CLIP-seq
MIRT2317835	hsa-miR-3170	CLIP-seq
MIRT2093216	hsa-miR-3184	CLIP-seq
MIRT1313297	hsa-miR-324-3p	CLIP-seq
MIRT2317836	hsa-miR-342-5p	CLIP-seq
MIRT2317837	hsa-miR-361-3p	CLIP-seq
MIRT1313300	hsa-miR-3652	CLIP-seq
MIRT1313302	hsa-miR-3909	CLIP-seq
MIRT1313303	hsa-miR-3914	CLIP-seq
MIRT1313304	hsa-miR-3916	CLIP-seq
MIRT1313306	hsa-miR-3928	CLIP-seq
MIRT2093220	hsa-miR-423-5p	CLIP-seq
MIRT2317838	hsa-miR-424	CLIP-seq
MIRT1313308	hsa-miR-4270	CLIP-seq
MIRT1313310	hsa-miR-4292	CLIP-seq
MIRT1313313	hsa-miR-4307	CLIP-seq
MIRT2317839	hsa-miR-4318	CLIP-seq
MIRT1313315	hsa-miR-4418	CLIP-seq
MIRT1313316	hsa-miR-4419a	CLIP-seq
MIRT1313317	hsa-miR-4423-5p	CLIP-seq
MIRT1313318	hsa-miR-4430	CLIP-seq
MIRT2317840	hsa-miR-4434	CLIP-seq
MIRT1313319	hsa-miR-4441	CLIP-seq
MIRT2317841	hsa-miR-4476	CLIP-seq
MIRT1313325	hsa-miR-4505	CLIP-seq
MIRT1313326	hsa-miR-4510	CLIP-seq
MIRT2317842	hsa-miR-4514	CLIP-seq
MIRT2317843	hsa-miR-4516	CLIP-seq
MIRT1313327	hsa-miR-4518	CLIP-seq
MIRT2317844	hsa-miR-4522	CLIP-seq
MIRT2317845	hsa-miR-4524	CLIP-seq
MIRT2317846	hsa-miR-4531	CLIP-seq
MIRT2317847	hsa-miR-4633-3p	CLIP-seq
MIRT1313329	hsa-miR-4638-3p	CLIP-seq
MIRT2093224	hsa-miR-4646-3p	CLIP-seq
MIRT2317848	hsa-miR-4651	CLIP-seq
MIRT2317849	hsa-miR-4664-5p	CLIP-seq
MIRT1313332	hsa-miR-4668-5p	CLIP-seq
MIRT2317850	hsa-miR-4692	CLIP-seq
MIRT2317851	hsa-miR-4693-5p	CLIP-seq
MIRT2317852	hsa-miR-4710	CLIP-seq
MIRT2317853	hsa-miR-4715-3p	CLIP-seq
MIRT1313334	hsa-miR-4718	CLIP-seq
MIRT1313335	hsa-miR-4726-3p	CLIP-seq
MIRT2317854	hsa-miR-4733-3p	CLIP-seq
MIRT2317855	hsa-miR-4735-3p	CLIP-seq
MIRT2317856	hsa-miR-4776-3p	CLIP-seq
MIRT2317857	hsa-miR-4793-3p	CLIP-seq
MIRT1313339	hsa-miR-4802-3p	CLIP-seq
MIRT1313340	hsa-miR-490-5p	CLIP-seq
MIRT2317858	hsa-miR-497	CLIP-seq
MIRT2317859	hsa-miR-503	CLIP-seq
MIRT1313341	hsa-miR-509-3-5p	CLIP-seq
MIRT1313342	hsa-miR-509-5p	CLIP-seq
MIRT2317860	hsa-miR-513c	CLIP-seq
MIRT2317861	hsa-miR-514b-5p	CLIP-seq
MIRT2317862	hsa-miR-516b	CLIP-seq
MIRT2093229	hsa-miR-520f	CLIP-seq
MIRT1313343	hsa-miR-544	CLIP-seq
MIRT2317863	hsa-miR-608	CLIP-seq
MIRT1313345	hsa-miR-615-5p	CLIP-seq
MIRT2317864	hsa-miR-620	CLIP-seq
MIRT2317865	hsa-miR-624	CLIP-seq
MIRT2317866	hsa-miR-646	CLIP-seq
MIRT1313346	hsa-miR-661	CLIP-seq
MIRT1313347	hsa-miR-665	CLIP-seq
MIRT1313349	hsa-miR-876-5p	CLIP-seq
MIRT2317867	hsa-miR-892a	CLIP-seq
MIRT2093232	hsa-miR-892b	CLIP-seq
MIRT1313287	hsa-miR-3125	CLIP-seq
MIRT2317837	hsa-miR-361-3p	CLIP-seq
MIRT1313304	hsa-miR-3916	CLIP-seq
MIRT2317860	hsa-miR-513c	CLIP-seq
MIRT2317861	hsa-miR-514b-5p	CLIP-seq
MIRT2317837	hsa-miR-361-3p	CLIP-seq
MIRT2317860	hsa-miR-513c	CLIP-seq
MIRT2317861	hsa-miR-514b-5p	CLIP-seq
MIRT2317837	hsa-miR-361-3p	CLIP-seq
MIRT2317860	hsa-miR-513c	CLIP-seq
MIRT2317861	hsa-miR-514b-5p	CLIP-seq
MIRT2317837	hsa-miR-361-3p	CLIP-seq
MIRT2317860	hsa-miR-513c	CLIP-seq
MIRT2317861	hsa-miR-514b-5p	CLIP-seq

Show/Hide all (33)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004842	Function	Ubiquitin-protein transferase activity	IDA	22575959, 22895187
GO:0005109	Function	Frizzled binding	IBA
GO:0005109	Function	Frizzled binding	IEA
GO:0005109	Function	Frizzled binding	IPI	22895187
GO:0005515	Function	Protein binding	IPI	18313049, 19690564, 29769720, 33961781
GO:0005634	Component	Nucleus	IEA
GO:0005635	Component	Nuclear envelope	IEA
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	IEA
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IDA	22575959, 22895187
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS
GO:0006511	Process	Ubiquitin-dependent protein catabolic process	IBA
GO:0006511	Process	Ubiquitin-dependent protein catabolic process	IDA	22895187
GO:0008270	Function	Zinc ion binding	IEA
GO:0016020	Component	Membrane	IEA
GO:0016055	Process	Wnt signaling pathway	IEA
GO:0016567	Process	Protein ubiquitination	IDA	22575959
GO:0016567	Process	Protein ubiquitination	IEA
GO:0016740	Function	Transferase activity	IEA
GO:0030178	Process	Negative regulation of Wnt signaling pathway	IEA
GO:0030178	Process	Negative regulation of Wnt signaling pathway	IMP	22575959, 22895187
GO:0038018	Process	Wnt receptor catabolic process	IBA
GO:0038018	Process	Wnt receptor catabolic process	IDA	22895187
GO:0038018	Process	Wnt receptor catabolic process	IEA
GO:0038018	Process	Wnt receptor catabolic process	TAS	24431302
GO:0046872	Function	Metal ion binding	IEA
GO:0061630	Function	Ubiquitin protein ligase activity	IBA
GO:0061630	Function	Ubiquitin protein ligase activity	IEA
GO:0061630	Function	Ubiquitin protein ligase activity	TAS	24431302
GO:0072089	Process	Stem cell proliferation	IEA
GO:0072089	Process	Stem cell proliferation	ISS

MIM	HGNC	e!Ensembl
612482	18505	ENSG00000108375

Q68DV7

Protein name

E3 ubiquitin-protein ligase RNF43 (EC 2.3.2.27) (RING finger protein 43) (RING-type E3 ubiquitin transferase RNF43)

Protein function

E3 ubiquitin-protein ligase that acts as a negative regulator of the Wnt signaling pathway by mediating the ubiquitination, endocytosis and subsequent degradation of Wnt receptor complex components Frizzled. Acts on both canonical and non-canoni

PDB

4KNG , 8WVU

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF18212	ZNRF_3_ecto	85 → 189	ZNRF-3 Ectodomain	Domain
PF13639	zf-RING_2	270 → 313	Ring finger domain	Domain

Tissue specificity

TISSUE SPECIFICITY: Expressed in fetal kidney, fetal lung, in colon cancer tissues, hepatocellular carcinomas and lung adenocarcinomas. Overexpressed in colorectal cancer cell lines. {ECO:0000269|PubMed:15492824, ECO:0000269|PubMed:18313049}.

Sequence

MSGGHQLQLAALWPWLLMATLQAGFGRTGLVLAAAVESERSAEQKAIIRVIPLKMDPTGK
LNLTLEGVFAGVAEITPAEGKLMQSHPLYLCNASDDDNLEPGFISIVKLESPRRAPRPCL
SLASKARMAGERGASAVLFDITEDRAAAEQLQQPLGLTWPVVLIWGNDAEKLMEFVYKNQ
KAHVRIELKEPPAWPDYDVWILMTVVGTIFVIILASVLRIRCRPRHSRPDPLQQRTAWAI
SQLATRRYQASCRQARGEWPDSGSSCSSAPVCAICLEEFSEGQELRVISCLHEFHRNCVD
PWLHQHRTCPLCMFNITEGDSFSQSLGPSRSYQEPGRRLHLIRQHPGHAHYHLPAAYLLG
PSRSAVARPPRPGPFLPSQEPGMGPRHHRFPRAAHPRAPGEQQRLAGAQHPYAQGWGLSH
LQSTSQHPAACPVPLRRARPPDSSGSGESYCTERSGYLADGPASDSSSGPCHGSSSDSVV
NCTDISLQGVHGSSSTFCSSLSSDFDPLVYCSPKGDPQRVDMQPSVTSRPRSLDSVVPTG
ETQVSSHVHYHRHRHHHYKKRFQWHGRKPGPETGVPQSRPPIPRTQPQPEPPSPDQQVTR
SNSAAPSGRLSNPQCPRALPEPAPGPVDASSICPSTSSLFNLQKSSLSARHPQRKRRGGP
SEPTPGSRPQDATVHPACQIFPHYTPSVAYPWSPEAHPLICGPPGLDKRLLPETPGPCYS
NSQPVWLCLTPRQPLEPHPPGEGPSEWSSDTAEGRPCPYPHCQVLSAQPGSEEELEELCE
QAV

Sequence length

783

Interactions

View interactions

	KEGG		Reactome
	Wnt signaling pathway		Regulation of FZD by ubiquitination RNF mutants show enhanced WNT signaling and proliferation

286

Show/Hide Causal Diseases (3)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Colon serrated polyposis	Pathogenic	rs786205215	RCV000170445
Neoplasm	Likely pathogenic	rs755128667, rs2143409098	RCV005232658 RCV004674009
Sessile serrated polyposis cancer syndrome	Likely pathogenic; Pathogenic	rs2143383024, rs786205215, rs2143409098, rs2509339083	RCV002463988 RCV000240616 RCV003990526 RCV003991263

Show/Hide Unknown Diseases (8)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Colon adenocarcinoma	Uncertain significance	rs1329721997	RCV005924348
Colorectal cancer	Conflicting classifications of pathogenicity	rs755128667	RCV006250186
Hereditary cancer	Conflicting classifications of pathogenicity	rs139557480	RCV003492259
Hereditary cancer-predisposing syndrome	Conflicting classifications of pathogenicity; Benign; Likely benign; Uncertain significance	rs34464652, rs61746279, rs9652855, rs62636625, rs79309393, rs34523089, rs2680701, rs76384648, rs35219874, rs2257205, rs2526374, rs2158460, rs3744093, rs200626293	RCV005251281 RCV005629606 RCV005629616 RCV005638583 RCV005638582 RCV005629604 RCV005629608 RCV005914076 RCV005251282 RCV005629605 RCV005629564 RCV005629563 RCV003482144 RCV005601677
Hyperplastic polyposis syndrome	Conflicting classifications of pathogenicity; Benign; Likely benign; Uncertain significance	rs199831923, rs367688879, rs372129321, rs199916345, rs142097313, rs139405076, rs200680078, rs62636625, rs79309393, rs138844366, rs77499318, rs76384648, rs139557480, rs35219874, rs753874515 View all (14 more)	RCV005361609 RCV005361610 RCV005361621 RCV005369903 RCV005361642 RCV005369902 RCV005361640 RCV005361638 RCV005361637 RCV005361633 RCV005361635 RCV005361632 RCV005361639 RCV005369907 RCV005361822 RCV005370121 RCV005361852 RCV005370161 RCV005361972 RCV005361958 RCV005361954 RCV005356458 RCV005356504 RCV005367698 RCV005359840 RCV005359930 RCV005367782 RCV005359967 RCV005359969
Inherited polyposis and early onset colorectal cancer - germline testing	Conflicting classifications of pathogenicity	rs755128667	RCV006440929
RNF43-related disorder	Conflicting classifications of pathogenicity; Uncertain significance; Likely benign; Benign	rs755128667, rs1164873326, rs199909371, rs199831923, rs148147597, rs754064531, rs199916345, rs9652855, rs146366849, rs200680078, rs62636625, rs138844366, rs2680701, rs76384648, rs139557480 View all (5 more)	RCV004754789 RCV004731132 RCV003908592 RCV003946141 RCV003930914 RCV003956163 RCV003940921 RCV003980587 RCV003948531 RCV003966106 RCV003908849 RCV003931070 RCV003983932 RCV003921087 RCV003931101 RCV003908877 RCV003980503 RCV003913666 RCV003916993 RCV003405447
Thyroid cancer, nonmedullary, 1	Uncertain significance	rs142178517	RCV005924204

Show/Hide Text Mining Associations (61)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Adenocarcinoma Mucinous	Associate	31231124, 32641744
Adenoma	Associate	24512911, 32092099, 33098683
Adenomatous Polyposis Coli	Associate	25344691, 39519399
Adenomatous Polyposis Coli	Stimulate	33230914
Anodontia	Associate	35254413
Arthritis Rheumatoid	Associate	31905737
Breast Neoplasms	Associate	37848933
Calcinosis Cutis	Associate	36811382
Carcinogenesis	Associate	21108931, 25825523, 26240024, 27661107, 35040131
Carcinoma Hepatocellular	Associate	26823834, 40264052
Carcinoma Pancreatic Ductal	Associate	23847203, 28810144, 30183492, 32696980, 33390837, 35313331, 36999792
Carcinoma Pancreatic Ductal	Inhibit	26240024
Carcinoma Renal Cell	Associate	36097369, 37848933
Carcinoma Renal Cell	Inhibit	37304674
Cardiomyopathy infantile histiocytoid	Associate	27282351
Cholangiocarcinoma	Associate	37939617, 38281914
Colonic Neoplasms	Associate	25344691, 31811196, 34214079
Colorectal Neoplasms	Associate	21108931, 27461012, 28573495, 28675510, 29370427, 31811196, 32236609, 33028695, 33098683, 35040131, 35143042, 35254413, 35676246, 35798829, 35907983 View all (8 more)
Colorectal Neoplasms	Inhibit	25755738
Colorectal Neoplasms Hereditary Nonpolyposis	Associate	28548127, 28573495, 33098683
Cysts	Associate	26253305
Endometrial Neoplasms	Associate	25344691
Exocrine Pancreatic Insufficiency	Associate	26240024
Glioma	Associate	25755738
Hypersensitivity Immediate	Associate	31231124
Hypoxia	Associate	34214079
Inflammatory Bowel Diseases	Inhibit	33930428
Intestinal Polyposis	Associate	34704405
Left sided gallbladder	Associate	32236609
Lung Neoplasms	Associate	37848933
Lymphatic Metastasis	Associate	32236609
Microsatellite Instability	Associate	27661107, 35254413, 35907983, 36097219
Microsatellite Instability	Stimulate	33028695
Mitochondrial Diseases	Associate	35313331
Mouth Diseases	Associate	33712927
Multiple Sclerosis	Associate	28892075
Neoplasm Invasiveness	Associate	32236609, 35180847, 36454217
Neoplasms	Associate	23282184, 23847203, 24293293, 24512911, 25081753, 25344691, 25623214, 25825523, 27661107, 28892075, 29293510, 30458888, 31231124, 31576098, 31811196 View all (15 more)
Neoplasms	Inhibit	25755738, 25891077, 26184844, 26240024, 36823311, 37304674
Neoplasms Cystic Mucinous and Serous	Inhibit	22158988
Neoplasms Cystic Mucinous and Serous	Associate	23847203, 24639398, 29936255, 30229909
Ovarian Neoplasms	Associate	30229909, 35487932
Pancreatic Cyst	Associate	26253305, 31576098
Pancreatic Intraductal Neoplasms	Inhibit	22158988
Pancreatic Intraductal Neoplasms	Associate	25081753, 25623214, 28776573, 31225717, 32696980, 36454217
Pancreatic Neoplasms	Associate	23847203, 30458888, 34461940, 35536676, 36740149
Peritonitis	Associate	27461012
Polyps	Associate	24512911, 33098683
Precancerous Conditions	Associate	31576098, 32092099
Prostatic Neoplasms	Associate	33293427
Pseudomyxoma Peritonei	Associate	29936255
Sarcoma	Associate	37848933
Stomach Neoplasms	Inhibit	26184844
Stomach Neoplasms	Associate	31811196, 32532891, 32641744, 33511732, 33933102, 34214079, 36823311
Teratoma	Associate	31695154
Tertiary Lymphoid Structures	Associate	26184844
Turcot syndrome	Associate	32620917, 35254413
Unilateral Breast Neoplasms	Associate	31848314
Urinary Bladder Neoplasms	Associate	35798829
Uterine Cervical Dysplasia	Associate	28188630
von Hippel Lindau Disease	Inhibit	26253305

RNF43 (ring finger protein 43)