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

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 (3)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Colon serrated polyposis	Pathogenic	rs786205215	RCV000170445	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neoplasm	Likely pathogenic	rs755128667, rs2143409098	RCV005232658 RCV004674009	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Sessile serrated polyposis cancer syndrome	Likely pathogenic; Pathogenic	rs2143383024, rs786205215, rs2143409098, rs2509339083	RCV002463988 RCV000240616 RCV003990526 RCV003991263	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (26)

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.
ANEMIA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOVASCULAR DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHOLANGIOCARCINOMA	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal cancer	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLORECTAL NEOPLASMS	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ENDOMETRIAL NEOPLASMS	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ESSENTIAL TREMOR	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GASTRIC CANCER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GASTRIC CARCINOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hereditary cancer	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hereditary cancer-predisposing syndrome	Conflicting classifications of pathogenicity; Benign; Likely benign; Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hyperplastic polyposis syndrome	Conflicting classifications of pathogenicity; Benign; Likely benign; Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTENSION	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Inherited polyposis and early onset colorectal cancer - germline testing	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
IRRITABLE BOWEL SYNDROME	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LIVER DISEASES, PARASITIC	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PANCREATIC CARCINOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATE CANCER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATE CANCER, FAMILIAL	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATE CARCINOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATIC NEOPLASMS	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RNF43-related disorder	Conflicting classifications of pathogenicity; Uncertain significance; Likely benign; Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
STOMACH NEOPLASMS	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
STROKE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (114)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Adenocarcinoma	Adenocarcinoma	BEFREE	25344691		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of large intestine	Colorectal Cancer	CGI_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	BEFREE	31286874		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of pancreas	Pancreatic adenocarcinoma	BEFREE	23847203		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of pancreas	Pancreatic adenocarcinoma	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Adenoma	Adenoma	BEFREE	27329244, 27514024, 30884828		★★★★★ ★☆☆☆☆ Found in Text Mining only
Anodontia	Anodontia	Pubtator	35254413	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
ANOPHTHALMIA AND PULMONARY HYPOPLASIA	Syndromic microphthalmia	BEFREE	26240024, 27869803		★★★★★ ★☆☆☆☆ Found in Text Mining only
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	31905737	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Benign tumor of pancreas	Benign Tumor Of Pancreas	CGI_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Biliary Tract Neoplasm	Biliary Tract Neoplasm	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	37848933	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	21108931, 25825523, 26240024, 27661107, 35040131	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	26823834, 40264052	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma of bladder	Bladder carcinoma	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Pancreatic Ductal	Pancreatic ductal carcinoma	Pubtator	23847203, 28810144, 30183492, 32696980, 33390837, 35313331, 36999792	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Pancreatic Ductal	Pancreatic ductal carcinoma	Pubtator	26240024	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	36097369, 37848933	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	37304674	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	24001777		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular Diseases	GWASCAT_DG	30595370		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebrovascular accident	Stroke	GWASCAT_DG	29531354		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cholangiocarcinoma	Cholangiocarcinoma	CTD_human_DG	22561520		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Cholangiocarcinoma	Pubtator	37939617, 38281914	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Cholangiocarcinoma	CGI_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon Carcinoma	Colon Carcinoma	BEFREE	18313049, 31122752, 31811196		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colon Serrated Polyposis	Colorectal polyposis	CLINVAR_DG	22552244		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Colonic Neoplasms	Colonic neoplasm	Pubtator	25344691, 31811196, 34214079	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic Neoplasms	BEFREE	31811196		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	15492824, 21108931, 23136185, 25583782, 25755738, 25961913, 26297255, 27305845, 27329244, 27461012, 28573495, 28789449, 28846106, 29473265, 29541190 View all (5 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	CTD_human_DG	25344691		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal Neoplasms	LHGDN	15492824		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	21108931, 27461012, 28573495, 28675510, 29370427, 31811196, 32236609, 33028695, 33098683, 35040131, 35143042, 35254413, 35676246, 35798829, 35907983 View all (8 more)	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal Neoplasms	Colorectal Neoplasms	CTD_human_DG	25344691		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	25755738	Inhibit	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal Neoplasms	Colorectal Neoplasms	BEFREE	27305845, 28789449		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal Neoplasms Hereditary Nonpolyposis	Lynch syndrome	Pubtator	28548127, 28573495, 33098683	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital contractural arachnodactyly	Congenital Contractural Arachnodactyly	BEFREE	25693006		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cyst	Cyst	BEFREE	23096461		★★★★★ ★☆☆☆☆ Found in Text Mining only
Endometrial Carcinoma	Endometrial carcinoma	BEFREE	25344691, 26297255		★★★★★ ★☆☆☆☆ Found in Text Mining only
Endometrial Carcinoma	Endometrial carcinoma	CTD_human_DG	25344691		★★★★★ ★☆☆☆☆ Found in Text Mining only
Endometrial Neoplasms	Endometrial Neoplasms	CTD_human_DG	25344691		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Endometrial Neoplasms	Endometrial neoplasm	Pubtator	25344691	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Extrahepatic Cholangiocarcinoma	Cholangiocarcinoma	CTD_human_DG	22561520		★★★★★ ★☆☆☆☆ Found in Text Mining only
Gastritis	Gastritis	BEFREE	30884828		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	25755738	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hereditary Diffuse Gastric Cancer	Gastric Cancer	CTD_human_DG	24816253		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hereditary Nonpolyposis Colorectal Cancer	Colorectal Cancer	BEFREE	28573495		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hodgkin Disease	Hodgkin Disease	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hyperplastic polyposis syndrome	Hyperplastic Polyposis Syndrome	ORPHANET_DG	27081527		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hyperplastic polyposis syndrome	Hyperplastic Polyposis Syndrome	BEFREE	30862463		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypersensitivity Immediate	Hypersensitivity	Pubtator	31231124	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	34214079	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory bowel disease	Pubtator	33930428	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Intestinal Polyposis	Intestinal polyposis	Pubtator	34704405	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Intrahepatic Cholangiocarcinoma	Intrahepatic Cholangiocarcinoma	CTD_human_DG	22561520		★★★★★ ★☆☆☆☆ Found in Text Mining only
Intrahepatic Cholangiocarcinoma	Intrahepatic Cholangiocarcinoma	BEFREE	26980022		★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	23136185		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	37848933	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	32236609	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lynch Syndrome	Lynch Syndrome	BEFREE	28573495		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of gastrointestinal tract	Malignant gastrointestinal tract tumors	BEFREE	30380024		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	24001777		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	CGI_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	31391551		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	CGI_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	CTD_human_DG	29610475		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	CTD_human_DG	24816253		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	27006499, 28446252		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	22158988, 23136185, 23847203, 26548627, 26980022, 27162353, 27305845, 27329244, 27661107, 27864998, 28789449		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	18313049, 31122752, 31811196		★★★★★ ★☆☆☆☆ Found in Text Mining only
Marinesco-Sjogren syndrome	Marinesco-Sjogren Syndrome	BEFREE	28675510		★★★★★ ★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Mitochondrial Diseases	Mitochondrial disease	Pubtator	35313331	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Mouth Diseases	Mouth disease	Pubtator	33712927	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Mucinous Adenocarcinoma	Mucinous Adenocarcinoma	BEFREE	24001777		★★★★★ ★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple sclerosis	Pubtator	28892075	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	23096461, 23136185, 24436263, 25081753, 25344691, 25623214, 25755738, 26023187, 26240024, 26297255, 27329244, 27514024, 27661107, 27864998, 28446252 View all (12 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neurilemmoma	Neurilemmoma	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Ovarian Carcinoma	Ovarian Carcinoma	BEFREE	24001777		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ovarian Carcinoma	Ovarian Carcinoma	CGI_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	BEFREE	23096461, 24001777		★★★★★ ★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	CGI_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	30229909, 35487932	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	CGI_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pancreatic Cyst	Pancreatic Cyst	BEFREE	23442735		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancreatic Cyst	Pancreatic cyst	Pubtator	26253305, 31576098	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancreatic Ductal Adenocarcinoma	Pancreatic adenocarcinoma	BEFREE	23847203, 26240024, 27869803		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasm	Pancreatic Neoplasm	BEFREE	23847203, 27869803, 29117169		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasm	Pancreatic Neoplasm	CGI_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	23847203, 30458888, 34461940, 35536676, 36740149	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Peritonitis	Peritonitis	Pubtator	27461012	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Polyp of large intestine	Polyp Of Large Intestine	BEFREE	29756208		★★★★★ ★☆☆☆☆ Found in Text Mining only
Polyp of large intestine	Polyp Of Large Intestine	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostate cancer, familial	Prostate cancer	CTD_human_DG	29892016		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATE CANCER, HEREDITARY, 1	Prostate Cancer, Hereditary	CTD_human_DG	29892016		★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	GWASCAT_DG	29892016		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostatic Neoplasms	Prostatic Neoplasms	CTD_human_DG	29610475		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	33293427	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Sarcoma	Pubtator	37848933	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Secondary malignant neoplasm of colon and/or rectum	Colorectal Neoplasms	BEFREE	29473265, 29541190		★★★★★ ★☆☆☆☆ Found in Text Mining only
Serrated polyposis syndrome	Serrated Polyposis Syndrome	Orphanet			★★★★★ ★☆☆☆☆ Found in Text Mining only
SESSILE SERRATED POLYPOSIS CANCER SYNDROME	Sessile Serrated Polyposis Cancer Syndrome	CLINGEN_DG	18313049, 22895187, 24512911, 27081527, 27329244, 27582512		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
SESSILE SERRATED POLYPOSIS CANCER SYNDROME	Sessile Serrated Polyposis Cancer Syndrome	CLINVAR_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Stomach Carcinoma	Stomach Carcinoma	BEFREE	27006499, 28446252		★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach Neoplasms	CTD_human_DG	24816253		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Stomach Neoplasms	Stomach neoplasms	Pubtator	26184844	Inhibit	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Stomach Neoplasms	Stomach neoplasms	Pubtator	31811196, 32532891, 32641744, 33511732, 33933102, 34214079, 36823311	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Turcot syndrome	Turcot syndrome	Pubtator	32620917, 35254413	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	35798829	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Uterine Cervical Dysplasia	Uterine disease	Pubtator	28188630	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

RNF43 (ring finger protein 43)