RET (ret proto-oncogene)

Gene

• Entrez ID: 5979
• Gene name: Ret proto-oncogene
• Gene symbol: RET
• Synonyms (NCBI Gene): CDHF12, CDHR16, HSCR1, MEN2A, MEN2B, MTC1, PTC, RET-ELE1
• Chromosome: 10
• Chromosome location: 10q11.21
• Summary: This gene encodes a transmembrane receptor and member of the tyrosine protein kinase family of proteins. Binding of ligands such as GDNF (glial cell-line derived neurotrophic factor) and other related proteins to the encoded receptor stimulates receptor d

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs1800858	A>C,G	Risk-factor, benign	Genic upstream transcript variant, coding sequence variant, synonymous variant
rs2435357	T>C	Risk-factor, benign	Genic upstream transcript variant, intron variant
rs17158558	C>T	Likely-benign, conflicting-interpretations-of-pathogenicity, risk-factor, pathogenic, benign-likely-benign, benign, uncertain-significance	Missense variant, coding sequence variant
rs34682185	G>A	Not-provided, likely-benign, conflicting-interpretations-of-pathogenicity, pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs55846256	C>A,T	Pathogenic, uncertain-significance, likely-benign	Missense variant, coding sequence variant, synonymous variant
rs55947360	G>A,T	Uncertain-significance, pathogenic	Missense variant, coding sequence variant
rs74799832	T>C	Pathogenic, likely-pathogenic, pathogenic-likely-pathogenic	Missense variant, coding sequence variant
rs75030001	G>C,T	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs75075748	T>C	Risk-factor	Missense variant, coding sequence variant
rs75076352	T>A,C,G	Pathogenic, likely-pathogenic, pathogenic-likely-pathogenic	Missense variant, coding sequence variant
rs75225191	C>T	Risk-factor, benign, likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs75234356	T>G	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs75686697	G>A	Pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs75873440	G>A,T	Pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs75996173	G>A,C,T	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs76087194	G>A	Risk-factor	Missense variant, coding sequence variant
rs76262710	T>A,C,G	Pathogenic, likely-pathogenic, pathogenic-likely-pathogenic	Missense variant, coding sequence variant
rs76397662	G>A	Pathogenic, benign	Missense variant, genic upstream transcript variant, coding sequence variant
rs76449634	C>T	Risk-factor	Stop gained, genic upstream transcript variant, coding sequence variant
rs76534745	A>G	Risk-factor	Missense variant, coding sequence variant
rs76764689	C>T	Likely-pathogenic, risk-factor	Missense variant, genic upstream transcript variant, coding sequence variant
rs77316810	T>A,C,G	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs77503355	G>A,C,T	Pathogenic, likely-pathogenic, pathogenic-likely-pathogenic	Missense variant, coding sequence variant
rs77558292	T>A,C,G	Pathogenic, likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs77596424	C>T	Risk-factor	Missense variant, genic upstream transcript variant, coding sequence variant
rs77702891	G>A,T	Risk-factor, uncertain-significance	Missense variant, coding sequence variant
rs77709286	C>G	Pathogenic, likely-pathogenic, pathogenic-likely-pathogenic	Missense variant, coding sequence variant
rs77711105	G>A	Benign-likely-benign, likely-benign, pathogenic, conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, coding sequence variant
rs77724903	A>G,T	Benign-likely-benign, likely-benign, pathogenic, conflicting-interpretations-of-pathogenicity, likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs77939446	G>A,C,T	Pathogenic, likely-pathogenic, not-provided	Missense variant, coding sequence variant
rs78014899	G>A,C,T	Pathogenic, likely-pathogenic, pathogenic-likely-pathogenic	Missense variant, coding sequence variant, synonymous variant
rs78098482	C>A	Risk-factor	Missense variant, coding sequence variant
rs78347871	G>A,C,T	Pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs78935588	C>G	Pathogenic	Missense variant, coding sequence variant
rs79014735	G>A,T	Uncertain-significance, risk-factor	Stop gained, missense variant, genic upstream transcript variant, coding sequence variant
rs79658334	G>A,C,T	Pathogenic, likely-pathogenic, pathogenic-likely-pathogenic	Missense variant, coding sequence variant
rs79661516	G>A	Risk-factor	5 prime UTR variant, missense variant, coding sequence variant
rs79781594	G>A,C,T	Pathogenic, likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs79853121	C>A,T	Pathogenic, uncertain-significance, not-provided	Missense variant, coding sequence variant
rs79890926	C>G,T	Pathogenic, uncertain-significance	Missense variant, coding sequence variant, synonymous variant
rs80069458	C>G,T	Pathogenic, likely-benign	Missense variant, coding sequence variant, synonymous variant
rs80236571	G>A	Risk-factor	Missense variant, coding sequence variant
rs115272158	C>T	Not-provided, likely-benign, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs121913308	A>C,G,T	Uncertain-significance, likely-pathogenic	Missense variant, coding sequence variant
rs121913309	TGTTTATGAAGA>-	Likely-pathogenic	Inframe deletion, coding sequence variant
rs121913312	GAGCTG>-	Likely-pathogenic	Inframe deletion, coding sequence variant
rs121913313	TTCCCTGAGGAGGAGAAGTGCTTCTGC>-	Likely-pathogenic	Inframe deletion, coding sequence variant
rs139790943	T>C	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, coding sequence variant
rs141679950	A>C,G	Conflicting-interpretations-of-pathogenicity, uncertain-significance, benign, likely-benign	Missense variant, genic upstream transcript variant, coding sequence variant
rs142338976	T>A	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, coding sequence variant
rs143795581	A>C,G	Pathogenic, likely-benign, likely-pathogenic	Missense variant, coding sequence variant
rs143862573	G>A,T	Uncertain-significance, likely-pathogenic	Intron variant
rs146646971	G>C,T	Likely-benign, uncertain-significance, likely-pathogenic, pathogenic-likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs147219360	G>A	Uncertain-significance, conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, missense variant
rs148935214	C>T	Uncertain-significance, conflicting-interpretations-of-pathogenicity, pathogenic, likely-benign	Coding sequence variant, missense variant
rs151148041	C>A	Uncertain-significance, conflicting-interpretations-of-pathogenicity, benign	Coding sequence variant, missense variant
rs192489011	G>A,T	Likely-benign, benign, benign-likely-benign, uncertain-significance, pathogenic	Coding sequence variant, missense variant, genic upstream transcript variant
rs193922699	A>G	Likely-pathogenic	Splice acceptor variant
rs201620214	G>A	Likely-benign, pathogenic	Coding sequence variant, synonymous variant
rs201740483	A>G	Likely-benign, conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant
rs201745826	C>T	Uncertain-significance, conflicting-interpretations-of-pathogenicity, benign	Coding sequence variant, missense variant
rs267607010	C>A,G	Uncertain-significance, pathogenic	Coding sequence variant, missense variant
rs267607011	C>G,T	Likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs369116900	C>T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs370736139	G>A	Likely-benign, uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, genic upstream transcript variant, missense variant
rs377130948	C>G,T	Likely-benign, conflicting-interpretations-of-pathogenicity	Intron variant
rs377767389	GC>CT	Pathogenic	Coding sequence variant, missense variant
rs377767391	T>A,C,G	Likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs377767394	A>C	Uncertain-significance, pathogenic	Coding sequence variant, missense variant
rs377767395	A>G	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs377767397	G>A,C,T	Pathogenic	Coding sequence variant, missense variant
rs377767398	GC>AT,CT,TT	Pathogenic	Coding sequence variant, missense variant
rs377767399	GAG>-	Uncertain-significance, pathogenic, benign	Coding sequence variant, inframe deletion
rs377767400	C>G,T	Pathogenic	Coding sequence variant, synonymous variant, missense variant
rs377767402	G>A	Likely-benign, uncertain-significance, pathogenic, benign	Coding sequence variant, missense variant
rs377767404	T>C	Likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs377767405	G>A,C,T	Uncertain-significance, pathogenic	Coding sequence variant, missense variant
rs377767406	G>A,T	Uncertain-significance, pathogenic	Coding sequence variant, missense variant
rs377767408	GCTGT>CGTGC	Pathogenic	Coding sequence variant, missense variant
rs377767409	GC>TG	Pathogenic	Coding sequence variant, missense variant
rs377767410	C>G,T	Uncertain-significance, pathogenic	Coding sequence variant, missense variant
rs377767411	G>A,T	Uncertain-significance, pathogenic	Coding sequence variant, missense variant
rs377767412	G>A	Likely-pathogenic, uncertain-significance, pathogenic	Coding sequence variant, synonymous variant
rs377767416	A>G	Uncertain-significance, pathogenic, benign	Coding sequence variant, missense variant
rs377767418	G>A,C	Uncertain-significance, pathogenic	Coding sequence variant, missense variant
rs377767419	A>G	Uncertain-significance, pathogenic	Coding sequence variant, missense variant
rs377767421	G>A,T	Pathogenic	Coding sequence variant, missense variant
rs377767423	G>T	Pathogenic	Coding sequence variant, missense variant
rs377767426	C>G	Uncertain-significance, pathogenic	Coding sequence variant, missense variant
rs377767429	GC>TT	Likely-pathogenic, pathogenic-likely-pathogenic	Coding sequence variant, missense variant
rs377767432	C>A,T	Uncertain-significance, pathogenic, benign	Coding sequence variant, missense variant
rs377767434	->AGGAGTGTG	Pathogenic	Coding sequence variant, inframe insertion
rs377767435	CGA>-	Uncertain-significance, pathogenic	Coding sequence variant, inframe deletion
rs377767436	->ACGAGCTGTGCC	Pathogenic	Coding sequence variant, inframe insertion
rs377767437	->TGCCGCACG	Pathogenic	Coding sequence variant, inframe insertion
rs377767438	A>GACCTGTGCCGCC	Pathogenic	Coding sequence variant, inframe indel
rs377767439	A>C,G,T	Uncertain-significance, pathogenic	Coding sequence variant, missense variant
rs377767440	G>TTCT	Pathogenic	Coding sequence variant, inframe indel
rs377767441	A>T	Pathogenic	Coding sequence variant, missense variant
rs377767442	A>G	Likely-pathogenic	Coding sequence variant, missense variant
rs387906531	G>C	Pathogenic	Coding sequence variant, missense variant
rs537874538	G>A	Likely-pathogenic, uncertain-significance, likely-benign, not-provided	Coding sequence variant, missense variant
rs545625150	C>G,T	Uncertain-significance, pathogenic	Coding sequence variant, missense variant
rs551159582	C>T	Likely-benign, benign, uncertain-significance, conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, downstream transcript variant, intron variant
rs553418132	C>G,T	Pathogenic, likely-benign	Stop gained, synonymous variant, coding sequence variant
rs561276725	A>G	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs751572082	G>A,C	Uncertain-significance, likely-pathogenic	Coding sequence variant, genic upstream transcript variant, missense variant
rs755606269	C>G,T	Pathogenic	Coding sequence variant, synonymous variant, missense variant
rs774347808	C>G,T	Uncertain-significance, conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, missense variant
rs779996040	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs794727130	GCAGTAT>-	Pathogenic	Coding sequence variant, frameshift variant
rs794728687	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs794728689	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs794728691	C>-	Pathogenic	Stop gained, coding sequence variant
rs886041443	->G	Pathogenic	Coding sequence variant, frameshift variant
rs1060500759	C>T	Pathogenic	Stop gained, coding sequence variant
rs1131691861	T>G	Likely-pathogenic	Stop gained, coding sequence variant, genic downstream transcript variant
rs1483605155	G>A,C,T	Pathogenic	Coding sequence variant, stop gained, missense variant
rs1554817395	G>T	Likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant, genic upstream transcript variant
rs1554818362	C>T	Pathogenic	Missense variant, coding sequence variant
rs1554818540	->G	Pathogenic	Frameshift variant, coding sequence variant
rs1554818555	GAGGGG>-	Pathogenic	Inframe deletion, coding sequence variant
rs1554818626	C>G	Pathogenic	Missense variant, coding sequence variant
rs1554818784	CT>TC	Pathogenic	Missense variant, coding sequence variant
rs1554818959	T>A	Pathogenic	Missense variant, coding sequence variant
rs1564489315	G>A	Pathogenic	Stop gained, coding sequence variant, genic upstream transcript variant
rs1564490097	T>C	Likely-pathogenic	Coding sequence variant, missense variant, genic upstream transcript variant
rs1564491460	G>A,T	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs1564494285	TG>-	Pathogenic	Frameshift variant, coding sequence variant
rs1564500612	->T	Pathogenic	Frameshift variant, coding sequence variant
rs1564501934	T>-	Pathogenic	Frameshift variant, coding sequence variant
rs1588862638	G>T	Pathogenic	Genic upstream transcript variant, coding sequence variant, stop gained
rs1588866040	G>T	Pathogenic	5 prime UTR variant, coding sequence variant, stop gained
rs1588872865	T>C	Likely-pathogenic	Coding sequence variant, missense variant
rs1588873476	G>A	Likely-pathogenic	Splice donor variant
rs1588874068	TG>CT	Pathogenic	Coding sequence variant, missense variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT004969	hsa-miR-31-5p	Luciferase reporter assay, qRT-PCR	19524507
MIRT005908	hsa-miR-29a-3p	qRT-PCR	21169019
MIRT024374	hsa-miR-215-5p	Microarray	19074876
MIRT026714	hsa-miR-192-5p	Microarray	19074876
MIRT438713	hsa-miR-129-5p	qRT-PCR, Western blot	24631532
MIRT438713	hsa-miR-129-5p	qRT-PCR, Western blot	24631532
MIRT438613	hsa-miR-218-5p	Flow, Luciferase reporter assay	23022987
MIRT438612	hsa-miR-128-3p	Flow, Luciferase reporter assay	23022987
MIRT438611	hsa-miR-27b-3p	Flow, Luciferase reporter assay	23022987
MIRT438610	hsa-miR-15a-5p	Flow, Luciferase reporter assay	23022987
MIRT438609	hsa-miR-195-5p	Flow, Luciferase reporter assay	23022987
MIRT438713	hsa-miR-129-5p	qRT-PCR, Western blot	24631532
MIRT438713	hsa-miR-129-5p	qRT-PCR, Western blot	24631532
MIRT438613	hsa-miR-218-5p	Flow, Luciferase reporter assay	23022987
MIRT438612	hsa-miR-128-3p	Flow, Luciferase reporter assay	23022987
MIRT438611	hsa-miR-27b-3p	Flow, Luciferase reporter assay	23022987
MIRT438610	hsa-miR-15a-5p	Flow, Luciferase reporter assay	23022987
MIRT438609	hsa-miR-195-5p	Flow, Luciferase reporter assay	23022987
MIRT438610	hsa-miR-15a-5p	Luciferase reporter assay, Western blotting, qRT-PCR	31496725
MIRT755690	hsa-miR-146b-5p	Luciferase reporter assay, Western blotting, qRT-PCR, in vitro cullelar assays, Immunofluorescence	38844639
MIRT1300930	hsa-miR-140-3p	CLIP-seq
MIRT1300931	hsa-miR-3065-3p	CLIP-seq
MIRT1300932	hsa-miR-3667-5p	CLIP-seq
MIRT1300933	hsa-miR-4693-5p	CLIP-seq
MIRT1300934	hsa-miR-103a	CLIP-seq
MIRT1300935	hsa-miR-106a	CLIP-seq
MIRT1300936	hsa-miR-106b	CLIP-seq
MIRT1300937	hsa-miR-107	CLIP-seq
MIRT1300938	hsa-miR-1185	CLIP-seq
MIRT1300939	hsa-miR-1200	CLIP-seq
MIRT1300940	hsa-miR-1264	CLIP-seq
MIRT1300941	hsa-miR-1301	CLIP-seq
MIRT1300942	hsa-miR-145	CLIP-seq
MIRT1300943	hsa-miR-146a	CLIP-seq
MIRT755690	hsa-miR-146b-5p	CLIP-seq
MIRT1300944	hsa-miR-148a	CLIP-seq
MIRT1300945	hsa-miR-148b	CLIP-seq
MIRT1300946	hsa-miR-152	CLIP-seq
MIRT1300947	hsa-miR-154	CLIP-seq
MIRT1300948	hsa-miR-15a	CLIP-seq
MIRT1300949	hsa-miR-15b	CLIP-seq
MIRT1300950	hsa-miR-16	CLIP-seq
MIRT1300951	hsa-miR-17	CLIP-seq
MIRT1300952	hsa-miR-1910	CLIP-seq
MIRT1300953	hsa-miR-1911	CLIP-seq
MIRT1300954	hsa-miR-195	CLIP-seq
MIRT1300955	hsa-miR-200b	CLIP-seq
MIRT1300956	hsa-miR-200c	CLIP-seq
MIRT1300957	hsa-miR-204	CLIP-seq
MIRT1300958	hsa-miR-2054	CLIP-seq
MIRT1300959	hsa-miR-20a	CLIP-seq
MIRT1300960	hsa-miR-20b	CLIP-seq
MIRT1300961	hsa-miR-211	CLIP-seq
MIRT1300962	hsa-miR-2117	CLIP-seq
MIRT1300963	hsa-miR-219-2-3p	CLIP-seq
MIRT1300964	hsa-miR-2278	CLIP-seq
MIRT1300965	hsa-miR-2392	CLIP-seq
MIRT1300966	hsa-miR-296-5p	CLIP-seq
MIRT1300967	hsa-miR-299-5p	CLIP-seq
MIRT1300968	hsa-miR-3117-5p	CLIP-seq
MIRT1300969	hsa-miR-3121-3p	CLIP-seq
MIRT1300970	hsa-miR-3127-3p	CLIP-seq
MIRT1300971	hsa-miR-3144-5p	CLIP-seq
MIRT1300972	hsa-miR-3155	CLIP-seq
MIRT1300973	hsa-miR-3155b	CLIP-seq
MIRT1300974	hsa-miR-3174	CLIP-seq
MIRT1300975	hsa-miR-3189-3p	CLIP-seq
MIRT1300976	hsa-miR-3191	CLIP-seq
MIRT1300977	hsa-miR-346	CLIP-seq
MIRT1300978	hsa-miR-3529	CLIP-seq
MIRT1300979	hsa-miR-3591-3p	CLIP-seq
MIRT1300980	hsa-miR-3605-5p	CLIP-seq
MIRT1300981	hsa-miR-3609	CLIP-seq
MIRT1300982	hsa-miR-361-3p	CLIP-seq
MIRT1300983	hsa-miR-361-5p	CLIP-seq
MIRT1300984	hsa-miR-3622b-5p	CLIP-seq
MIRT1300985	hsa-miR-3647-3p	CLIP-seq
MIRT1300986	hsa-miR-3660	CLIP-seq
MIRT1300987	hsa-miR-3664-3p	CLIP-seq
MIRT1300988	hsa-miR-3671	CLIP-seq
MIRT1300989	hsa-miR-3677-5p	CLIP-seq
MIRT1300990	hsa-miR-3679-5p	CLIP-seq
MIRT1300991	hsa-miR-3682-5p	CLIP-seq
MIRT1300992	hsa-miR-3688-5p	CLIP-seq
MIRT1300993	hsa-miR-374c	CLIP-seq
MIRT1300994	hsa-miR-377	CLIP-seq
MIRT1300995	hsa-miR-379	CLIP-seq
MIRT1300996	hsa-miR-424	CLIP-seq
MIRT1300997	hsa-miR-4251	CLIP-seq
MIRT1300998	hsa-miR-4257	CLIP-seq
MIRT1300999	hsa-miR-4266	CLIP-seq
MIRT1301000	hsa-miR-4273	CLIP-seq
MIRT1301001	hsa-miR-4274	CLIP-seq
MIRT1301002	hsa-miR-4288	CLIP-seq
MIRT1301003	hsa-miR-4289	CLIP-seq
MIRT1301004	hsa-miR-429	CLIP-seq
MIRT1301005	hsa-miR-4293	CLIP-seq
MIRT1301006	hsa-miR-4310	CLIP-seq
MIRT1301007	hsa-miR-4317	CLIP-seq
MIRT1301008	hsa-miR-4318	CLIP-seq
MIRT1301009	hsa-miR-4324	CLIP-seq
MIRT1301010	hsa-miR-4432	CLIP-seq
MIRT1301011	hsa-miR-4438	CLIP-seq
MIRT1301012	hsa-miR-4503	CLIP-seq
MIRT1301013	hsa-miR-4519	CLIP-seq
MIRT1301014	hsa-miR-452	CLIP-seq
MIRT1301015	hsa-miR-4524	CLIP-seq
MIRT1301016	hsa-miR-4526	CLIP-seq
MIRT1301017	hsa-miR-4640-3p	CLIP-seq
MIRT1301018	hsa-miR-4652-5p	CLIP-seq
MIRT1301019	hsa-miR-4659a-3p	CLIP-seq
MIRT1301020	hsa-miR-4659b-3p	CLIP-seq
MIRT1301021	hsa-miR-4667-3p	CLIP-seq
MIRT1301022	hsa-miR-4668-5p	CLIP-seq
MIRT1301023	hsa-miR-4676-3p	CLIP-seq
MIRT1301024	hsa-miR-4684-3p	CLIP-seq
MIRT1301025	hsa-miR-4690-5p	CLIP-seq
MIRT1300933	hsa-miR-4693-5p	CLIP-seq
MIRT1301026	hsa-miR-4695-5p	CLIP-seq
MIRT1301027	hsa-miR-4709-3p	CLIP-seq
MIRT1301028	hsa-miR-4712-5p	CLIP-seq
MIRT1301029	hsa-miR-4732-5p	CLIP-seq
MIRT1301030	hsa-miR-4779	CLIP-seq
MIRT1301031	hsa-miR-4783-3p	CLIP-seq
MIRT1301032	hsa-miR-4796-3p	CLIP-seq
MIRT1301033	hsa-miR-4797-3p	CLIP-seq
MIRT1301034	hsa-miR-484	CLIP-seq
MIRT1301035	hsa-miR-485-3p	CLIP-seq
MIRT1301036	hsa-miR-494	CLIP-seq
MIRT1301037	hsa-miR-495	CLIP-seq
MIRT1301038	hsa-miR-497	CLIP-seq
MIRT1301039	hsa-miR-499-5p	CLIP-seq
MIRT1301040	hsa-miR-503	CLIP-seq
MIRT1301041	hsa-miR-5047	CLIP-seq
MIRT1301042	hsa-miR-5096	CLIP-seq
MIRT1301043	hsa-miR-510	CLIP-seq
MIRT1301044	hsa-miR-512-5p	CLIP-seq
MIRT1301045	hsa-miR-514	CLIP-seq
MIRT1301046	hsa-miR-514b-3p	CLIP-seq
MIRT1301047	hsa-miR-519d	CLIP-seq
MIRT1301048	hsa-miR-520d-5p	CLIP-seq
MIRT1301049	hsa-miR-520f	CLIP-seq
MIRT1301050	hsa-miR-524-5p	CLIP-seq
MIRT1301051	hsa-miR-541	CLIP-seq
MIRT1301052	hsa-miR-544	CLIP-seq
MIRT1301053	hsa-miR-544b	CLIP-seq
MIRT1301054	hsa-miR-545	CLIP-seq
MIRT1301055	hsa-miR-548ah	CLIP-seq
MIRT1301056	hsa-miR-549	CLIP-seq
MIRT1301057	hsa-miR-558	CLIP-seq
MIRT1301058	hsa-miR-580	CLIP-seq
MIRT1301059	hsa-miR-587	CLIP-seq
MIRT1301060	hsa-miR-589	CLIP-seq
MIRT1301061	hsa-miR-590-3p	CLIP-seq
MIRT1301062	hsa-miR-596	CLIP-seq
MIRT1301063	hsa-miR-604	CLIP-seq
MIRT1301064	hsa-miR-607	CLIP-seq
MIRT1301065	hsa-miR-610	CLIP-seq
MIRT1301066	hsa-miR-616	CLIP-seq
MIRT1301067	hsa-miR-626	CLIP-seq
MIRT1301068	hsa-miR-632	CLIP-seq
MIRT1301069	hsa-miR-643	CLIP-seq
MIRT1301070	hsa-miR-644	CLIP-seq
MIRT1301071	hsa-miR-646	CLIP-seq
MIRT1301072	hsa-miR-647	CLIP-seq
MIRT1301073	hsa-miR-649	CLIP-seq
MIRT1301074	hsa-miR-654-3p	CLIP-seq
MIRT1301075	hsa-miR-654-5p	CLIP-seq
MIRT1301076	hsa-miR-655	CLIP-seq
MIRT1301077	hsa-miR-767-3p	CLIP-seq
MIRT1301078	hsa-miR-770-5p	CLIP-seq
MIRT1301079	hsa-miR-802	CLIP-seq
MIRT1301080	hsa-miR-873	CLIP-seq
MIRT1301081	hsa-miR-885-5p	CLIP-seq
MIRT1301082	hsa-miR-892a	CLIP-seq
MIRT1301083	hsa-miR-93	CLIP-seq
MIRT1301084	hsa-miR-936	CLIP-seq
MIRT1301085	hsa-miR-941	CLIP-seq
MIRT2089443	hsa-miR-1238	CLIP-seq
MIRT1300994	hsa-miR-377	CLIP-seq
MIRT1300957	hsa-miR-204	CLIP-seq
MIRT1300961	hsa-miR-211	CLIP-seq
MIRT2314308	hsa-miR-3161	CLIP-seq
MIRT2314309	hsa-miR-382	CLIP-seq
MIRT1301005	hsa-miR-4293	CLIP-seq
MIRT2314310	hsa-miR-4719	CLIP-seq
MIRT2314311	hsa-miR-4724-3p	CLIP-seq
MIRT2314312	hsa-miR-513b	CLIP-seq
MIRT1301062	hsa-miR-596	CLIP-seq
MIRT1301081	hsa-miR-885-5p	CLIP-seq
MIRT1301054	hsa-miR-545	CLIP-seq
MIRT1301067	hsa-miR-626	CLIP-seq
MIRT1301054	hsa-miR-545	CLIP-seq
MIRT1301067	hsa-miR-626	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
ESR1	Unknown	21737465;21947652
FOXA1	Unknown	21947652
NKX2-1	Repression	19853745
SOX10	Activation	20977903
SOX10	Unknown	14523991
TFAP2C	Unknown	22878616

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000165	Process	MAPK cascade	IEA
GO:0000166	Function	Nucleotide binding	IEA
GO:0001657	Process	Ureteric bud development	IEA
GO:0001755	Process	Neural crest cell migration	IEA
GO:0001838	Process	Embryonic epithelial tube formation	IEA
GO:0004672	Function	Protein kinase activity	IEA
GO:0004713	Function	Protein tyrosine kinase activity	IEA
GO:0004713	Function	Protein tyrosine kinase activity	TAS	7824936
GO:0004714	Function	Transmembrane receptor protein tyrosine kinase activity	IBA
GO:0004714	Function	Transmembrane receptor protein tyrosine kinase activity	IDA	24560924, 28846099, 31535977
GO:0004714	Function	Transmembrane receptor protein tyrosine kinase activity	IEA
GO:0004714	Function	Transmembrane receptor protein tyrosine kinase activity	TAS
GO:0005509	Function	Calcium ion binding	IDA	9575150, 11445581
GO:0005509	Function	Calcium ion binding	IEA
GO:0005515	Function	Protein binding	IPI	10545102, 11536047, 16569669, 17471236, 20877310, 21994944, 25241761, 25416956, 25910212, 28846097, 28846099, 28953886, 35044719, 35384245, 39009827
GO:0005524	Function	ATP binding	IEA
GO:0005768	Component	Endosome	IEA
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IDA	9575150
GO:0005886	Component	Plasma membrane	IDA	19823924, 28953886
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS
GO:0007155	Process	Cell adhesion	IEA
GO:0007156	Process	Homophilic cell adhesion via plasma membrane adhesion molecules	IEA
GO:0007158	Process	Neuron cell-cell adhesion	IEA
GO:0007158	Process	Neuron cell-cell adhesion	IMP	21357690
GO:0007165	Process	Signal transduction	TAS	7824936
GO:0007169	Process	Cell surface receptor protein tyrosine kinase signaling pathway	IBA
GO:0007169	Process	Cell surface receptor protein tyrosine kinase signaling pathway	IEA
GO:0007399	Process	Nervous system development	IEA
GO:0007399	Process	Nervous system development	IEA
GO:0007411	Process	Axon guidance	TAS
GO:0007497	Process	Posterior midgut development	TAS	8114939
GO:0010008	Component	Endosome membrane	IDA	19823924
GO:0010008	Component	Endosome membrane	IEA
GO:0010628	Process	Positive regulation of gene expression	IEA
GO:0010976	Process	Positive regulation of neuron projection development	IMP	17910947
GO:0016020	Component	Membrane	IEA
GO:0016301	Function	Kinase activity	IEA
GO:0016740	Function	Transferase activity	IEA
GO:0030155	Process	Regulation of cell adhesion	IDA	21357690
GO:0030182	Process	Neuron differentiation	IEA
GO:0030335	Process	Positive regulation of cell migration	IDA	20702524
GO:0030424	Component	Axon	IBA
GO:0033619	Process	Membrane protein proteolysis	IDA	21357690
GO:0033630	Process	Positive regulation of cell adhesion mediated by integrin	IDA	20702524
GO:0035799	Process	Ureter maturation	IEA
GO:0035860	Process	Glial cell-derived neurotrophic factor receptor signaling pathway	IDA	24560924, 25242331, 28953886, 31535977
GO:0038023	Function	Signaling receptor activity	TAS	7824936
GO:0042551	Process	Neuron maturation	IEA
GO:0043235	Component	Receptor complex	IBA
GO:0043235	Component	Receptor complex	IDA	23382219
GO:0043410	Process	Positive regulation of MAPK cascade	IDA	28846099
GO:0043410	Process	Positive regulation of MAPK cascade	IMP	28953886
GO:0045793	Process	Positive regulation of cell size	IEA
GO:0045893	Process	Positive regulation of DNA-templated transcription	IEA
GO:0045893	Process	Positive regulation of DNA-templated transcription	ISS	17047028
GO:0048265	Process	Response to pain	IEA
GO:0048265	Process	Response to pain	ISS
GO:0048484	Process	Enteric nervous system development	IEA
GO:0050770	Process	Regulation of axonogenesis	IEA
GO:0051897	Process	Positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction	IMP	28846097
GO:0061146	Process	Peyer's patch morphogenesis	IEA
GO:0061146	Process	Peyer's patch morphogenesis	ISS
GO:0071300	Process	Cellular response to retinoic acid	IMP	17910947
GO:0072300	Process	Positive regulation of metanephric glomerulus development	IEA
GO:0072300	Process	Positive regulation of metanephric glomerulus development	ISS	17047028
GO:0097021	Process	Lymphocyte migration into lymphoid organs	ISS
GO:0098797	Component	Plasma membrane protein complex	IDA	10545102
GO:0160144	Process	GDF15-GFRAL signaling pathway	IDA	31535977
GO:2001241	Process	Positive regulation of extrinsic apoptotic signaling pathway in absence of ligand	IMP	10921886
GO:2001241	Process	Positive regulation of extrinsic apoptotic signaling pathway in absence of ligand	TAS	21357690

Other IDs

• MIM: 164761
• HGNC: 9967
• e!Ensembl: ENSG00000165731

Protein

• UniProt ID: P07949
• Protein name: Proto-oncogene tyrosine-protein kinase receptor Ret (EC 2.7.10.1) (Cadherin family member 12) (Proto-oncogene c-Ret) [Cleaved into: Soluble RET kinase fragment; Extracellular cell-membrane anchored RET cadherin 120 kDa fragment]
• Protein function: Receptor tyrosine-protein kinase involved in numerous cellular mechanisms including cell proliferation, neuronal navigation, cell migration, and cell differentiation in response to glia cell line-derived growth family factors (GDNF, NRTN, ARTN,
• PDB: 2IVS, 2IVT, 2IVU, 2IVV, 2X2K, 2X2L, 2X2M, 2X2U, 4CKI, 4CKJ, 4UX8, 5AMN, 5FM2, 5FM3, 6FEK, 6GL7, 6I82, 6I83, 6NE7, 6NEC, 6NJA, 6Q2J, 6Q2N, 6Q2O, 6Q2R, 6Q2S, 6VHG, 7DU8, 7DU9, 7DUA, 7JU5, 7JU6, 7NZN, 7RUN
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF17756	RET_CLD1	29 → 154	RET Cadherin like domain 1	Domain
  PF00028	Cadherin	172 → 262	Cadherin domain	Domain
  PF17812	RET_CLD3	265 → 379	RET Cadherin like domain 3	Domain
  PF17813	RET_CLD4	404 → 507	RET Cadherin like domain 4	Domain
  PF07714	PK_Tyr_Ser-Thr	724 → 1005	Protein tyrosine and serine/threonine kinase	Domain

• Sequence:

  MAKATSGAAGLRLLLLLLLPLLGKVALGLYFSRDAYWEKLYVDQAAGTPLLYVHALRDAP
  EEVPSFRLGQHLYGTYRTRLHENNWICIQEDTGLLYLNRSLDHSSWEKLSVRNRGFPLLT
  VYLKVFLSPTSLREGECQWPGCARVYFSFFNTSFPACSSLKPRELCFPETRPSFRIRENR
  PPGTFHQFRLLPVQFLCPNISVAYRLLEGEGLPFRCAPDSLEVSTRWALDREQREKYELV
  AVCTVHAGAREEVVMVPFPVTVYDEDDSAPTFPAGVDTASAVVEFKRKEDTVVATLRVFD
  ADVVPASGELVRRYTSTLLPGDTWAQQTFRVEHWPNETSVQANGSFVRATVHDYRLVLNR
  NLSISENRTMQLAVLVNDSDFQGPGAGVLLLHFNVSVLPVSLHLPSTYSLSVSRRARRFA
  QIGKVCVENCQAFSGINVQYKLHSSGANCSTLGVVTSAEDTSGILFVNDTKALRRPKCAE
  LHYMVVATDQQTSRQAQAQLLVTVEGSYVAEEAGCPLSCAVSKRRLECEECGGLGSPTGR
  CEWRQGDGKGITRNFSTCSPSTKTCPDGHCDVVETQDINICPQDCLRGSIVGGHEPGEPR
  GIKAGYGTCNCFPEEEKCFCEPEDIQDPLCDELCRTVIAAAVLFSFIVSVLLSAFCIHCY
  HKFAHKPPISSAEMTFRRPAQAFPVSYSSSGARRPSLDSMENQVSVDAFKILEDPKWEFP
  RKNLVLGKTLGEGEFGKVVKATAFHLKGRAGYTTVAVKMLKENASPSELRDLLSEFNVLK
  QVNHPHVIKLYGACSQDGPLLLIVEYAKYGSLRGFLRESRKVGPGYLGSGGSRNSSSLDH
  PDERALTMGDLISFAWQISQGMQYLAEMKLVHRDLAARNILVAEGRKMKISDFGLSRDVY
  EEDSYVKRSQGRIPVKWMAIESLFDHIYTTQSDVWSFGVLLWEIVTLGGNPYPGIPPERL
  FNLLKTGHRMERPDNCSEEMYRLMLQCWKQEPDKRPVFADISKDLEKMMVKRRDYLDLAA
  STPSDSLIYDDGLSEEETPLVDCNNAPLPRALPSTWIENKLYGMSDPNWPGESPVPLTRA
  DGTNTGFPRYPNDSVYANWMLSPSAAKLMDTFDS

• Sequence length: 1114

Pathways

KEGG:

MAPK signaling pathway
Calcium signaling pathway
PI3K-Akt signaling pathway
Pathways in cancer
Thyroid cancer
Non-small cell lung cancer
Central carbon metabolism in cancer

Reactome:

RAF/MAP kinase cascade
RET signaling

Associated diseases

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Aganglionic megacolon	Pathogenic; Likely pathogenic	rs77316810, rs77503355, rs76764689, rs77558292, rs79890926, rs377767391, rs1564491460, rs1564489315, rs1564490097, rs751572082, rs1564500612, rs1564501934, rs1588872865	RCV000736276 RCV000678747 RCV000678742 RCV000736274 RCV004018329 RCV000736275 RCV000824755 RCV000678744 RCV000736270 RCV000736272 RCV000736273 RCV000736278 RCV000736280 RCV000853370 RCV000857245
Appendicitis	Likely pathogenic; Pathogenic	rs767479170	RCV001289999
Colorectal cancer	Pathogenic	rs1837613320	RCV001293844
Familial medullary thyroid carcinoma	Likely pathogenic; Pathogenic	rs2538470328, rs146646971, rs76262710, rs75076352, rs75996173, rs79781594, rs77503355, rs74799832, rs76534745, rs78014899, rs77939446, rs75030001, rs377767434, rs77558292, rs79658334, rs75873440, rs75234356, rs143795581	RCV003492764 RCV001589145 RCV002470710 RCV001310209 RCV005394154 RCV000014929 RCV000014934 RCV005394155 RCV001292662 RCV005042054 RCV005394158 RCV000014954 RCV000014956 RCV000496009 RCV000014961 RCV000014968 RCV000014970 RCV000014971 RCV001804750 RCV000014973 RCV000014977 RCV000014979 RCV002496436 RCV001027731 RCV000984325
Hepatocellular carcinoma	Pathogenic	rs78014899	RCV002280861
Hereditary cancer-predisposing syndrome	Pathogenic; Likely pathogenic	rs2538642532, rs2491935478, rs2538384541, rs2492162199, rs2538470328, rs2132776227, rs377767404, rs2538480268, rs2538494024, rs2538404853, rs368345402, rs2538484349, rs146646971, rs2132817885, rs1838178513, rs567241943, rs76262710, rs75076352, rs75996173, rs79781594, rs77316810, rs77503355, rs77709286, rs74799832, rs78014899, rs77939446, rs79890926, rs75030001, rs77558292, rs79658334, rs75873440, rs75234356, rs2538550904, rs377767396, rs377767391, rs377767397, rs377767405, rs377767406, rs377767412, rs143795581, rs377767442, rs377767429, rs1397494237, rs767479170	RCV002325980 RCV002342361 RCV002364235 RCV002346831 RCV002403881 RCV002389791 RCV002407971 RCV002401656 RCV002408164 RCV002435695 RCV002438113 RCV004091716 RCV000219014 RCV005724990 RCV003274351 RCV003361060 RCV002408462 RCV001013616 RCV000129490 RCV004668731 RCV002408463 RCV001013348 RCV000568259 RCV002408464 RCV000163338 RCV001013621 RCV002255998 RCV002255999 RCV002256000 RCV001015022 RCV000562113 RCV000566125 RCV002453262 RCV001013426 RCV001013275 RCV000210181 RCV000561258 RCV001012358 RCV001016276 RCV004524643 RCV004950822 RCV006292350 RCV004018655 RCV000565237 RCV002408472 RCV000163667 RCV000571381 RCV000575015 RCV004943733 RCV002408473 RCV005479231 RCV000219970 RCV002408474 RCV000567780 RCV000570730 RCV002408486 RCV002258320 RCV002412658 RCV000569893 RCV002408487 RCV002408488 RCV002426530 RCV000163610 RCV002453279 RCV002433481 RCV003298037 RCV001011763 RCV004035575
Hirschsprung disease, susceptibility to, 1	Likely pathogenic; Pathogenic	rs537874538, rs2538470328, rs2132777851, rs146646971, rs1838178513, rs76262710, rs75996173, rs77316810, rs77503355, rs75076352, rs74799832, rs76534745, rs76764689, rs76449634, rs77939446, rs79658334, rs75234356, rs2538598662, rs1477699803, rs2538616392, rs377767412, rs143795581, rs193922699, rs75030001, rs1564494285, rs1588873476, rs1588866040, rs1838178869	RCV002289465 RCV003492764 RCV002472204 RCV003462451 RCV003150912 RCV004760333 RCV003989285 RCV003324711 RCV005394155 RCV003460479 RCV001542764 RCV000014947 RCV000014948 RCV000014950 RCV005394158 RCV003460480 RCV003460494 RCV005394161 RCV002490368 RCV003990331 RCV003990837 RCV004555733 RCV001353180 RCV002466411 RCV001535750 RCV000030404 RCV004820824 RCV003466882 RCV000721942 RCV000825021 RCV000853339 RCV001089963
Inherited phaeochromocytoma and paraganglioma excluding NF1	Likely pathogenic; Pathogenic	rs74799832, rs79658334	RCV005865181 RCV005865197
Medullary thyroid carcinoma	Likely pathogenic; Pathogenic	rs74799832, rs75234356, rs143795581	RCV000417859 RCV003387503 RCV000148771
MEN2 phenotype: Unclassified	Likely pathogenic; Pathogenic	rs146646971, rs75076352, rs77503355, rs79658334, rs75234356, rs377767397, rs78014899	RCV004767168 RCV001420921 RCV004782015 RCV000586783 RCV001804732 RCV005237400 RCV002307370 RCV003226171
Multiple endocrine neoplasia	Pathogenic	rs79658334	RCV000487450
Multiple endocrine neoplasia II	Pathogenic	rs75234356	RCV003387503
Multiple endocrine neoplasia type 2A	Likely pathogenic; Pathogenic	rs146646971, rs2538548922, rs76262710, rs75076352, rs75996173, rs80069458, rs79781594, rs77316810, rs77503355, rs77709286, rs74799832, rs76534745, rs77939446, rs75030001, rs78935588, rs79658334, rs75873440, rs75234356, rs77558292, rs377767391, rs377767397, rs377767405, rs377767406, rs143795581, rs377767440, rs78014899, rs377767442	RCV002463360 RCV003316935 RCV000014919 RCV000014922 RCV000014924 RCV000014926 RCV000014928 RCV000014932 RCV000014933 RCV000014935 RCV000014936 RCV000014937 RCV000014939 RCV000175096 RCV005042054 RCV000014953 RCV000114391 RCV000173889 RCV000014960 RCV000014969 RCV004018626 RCV000499191 RCV000596480 RCV003335040 RCV000014978 RCV004589374 RCV005425703 RCV003233027 RCV005409607 RCV004018656 RCV000709757 RCV003315507 RCV005420517 RCV002496436 RCV000174156 RCV004064341 RCV003316853 RCV003233028 RCV000411546 RCV000709758 RCV000426266 RCV003315527
Multiple endocrine neoplasia type 2B	Likely pathogenic; Pathogenic	rs146646971, rs75996173, rs77503355, rs75076352, rs74799832, rs76534745, rs76262710, rs79658334, rs75234356, rs143795581, rs78014899, rs377767429, rs1838178970, rs121913307	RCV002463360 RCV000425364 RCV001262460 RCV005394155 RCV004795411 RCV000014941 RCV005042054 RCV000411165 RCV000427260 RCV004795938 RCV005394161 RCV000425892 RCV002496436 RCV002477001 RCV000410061 RCV000021873 RCV001199205 RCV001267832
Multiple endocrine neoplasia, type 2	Likely pathogenic; Pathogenic	rs2132777891, rs1588862595, rs2132664999, rs2132656224, rs577929869, rs2132767341, rs2132747295, rs2132664970, rs2132776227, rs2538404690, rs377767409, rs2538496158, rs2538405579, rs2538460738, rs146646971, rs2538548922, rs2132662772, rs76262710, rs75076352, rs75996173, rs80069458, rs79781594, rs77316810, rs77503355, rs77709286, rs74799832, rs76764689, rs76449634, rs78014899, rs77939446, rs79890926, rs75030001, rs77558292, rs79658334, rs75873440, rs75234356, rs2538471466, rs2538494024, rs2538424730, rs2132768560, rs2538423470, rs377767396, rs377767391, rs377767397, rs377767404, rs377767405, rs377767406, rs377767412, rs143795581, rs377767440, rs1060500759, rs377767442, rs377767398, rs377767429, rs1564500612, rs1588862638, rs1483605155, rs1588873476, rs1397494237, rs1837778621, rs1837854100	RCV001376832 RCV001381227 RCV001381565 RCV002010657 RCV001906929 RCV002007525 RCV001908987 RCV001906653 RCV003095239 RCV002863139 RCV002848185 RCV002903757 RCV003054991 RCV003041045 RCV000556223 RCV004009734 RCV003533956 RCV000228834 RCV000654584 RCV000476408 RCV000021824 RCV000471652 RCV002513055 RCV000161938 RCV000232285 RCV000021801 RCV000552504 RCV000459040 RCV000161926 RCV002514098 RCV001206325 RCV000233944 RCV000021792 RCV000021842 RCV000168107 RCV000021789 RCV000021849 RCV000021802 RCV001851862 RCV000148773 RCV000021854 RCV000469127 RCV000227193 RCV003532511 RCV003645988 RCV003646305 RCV003646334 RCV003646748 RCV005101401 RCV000021782 RCV000021784 RCV000021787 RCV000475953 RCV000548660 RCV000824755 RCV000654593 RCV000021807 RCV002513161 RCV000821103 RCV000021838 RCV000467461 RCV002572537 RCV000461915 RCV000533887 RCV001908064 RCV003533237 RCV000032040 RCV000021798 RCV000021820 RCV000032037 RCV000539138 RCV000021853 RCV000032039 RCV003062257 RCV002514127 RCV003532254 RCV000796315 RCV000814670 RCV003532285 RCV002549346 RCV001237306 RCV001244607
MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIA, WITH HIRSCHSPRUNG DISEASE	Pathogenic	rs77939446, rs79890926	RCV000014958 RCV000014959
MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIA, WITHOUT PHEOCHROMOCYTOMA	Pathogenic	rs377767436	RCV000014955
Ovarian cancer	Likely pathogenic; Pathogenic	rs2132708181, rs79658334	RCV003154779 RCV003153308
Pheochromocytoma	Likely pathogenic; Pathogenic	rs146646971, rs75076352, rs75996173, rs77503355, rs77709286, rs74799832, rs76534745, rs79658334, rs75234356, rs143795581	RCV002463360 RCV000014923 RCV000014925 RCV000014927 RCV000014930 RCV005394155 RCV000014938 RCV000014940 RCV000014943 RCV005042054 RCV005394158 RCV004795938 RCV005394161 RCV002490368 RCV002496436 RCV002477001
RET-related disorder	Pathogenic; Likely pathogenic	rs2132747295, rs146646971, rs2132817885, rs1278030644, rs2538615387, rs2538569005, rs1837729713, rs2538402891, rs2132983720, rs1465353841, rs75996173, rs75076352, rs74799832, rs76449634, rs77939446, rs77558292, rs79658334, rs75234356, rs2538496650, rs77316810, rs76262710	RCV004542167 RCV004532784 RCV004538899 RCV003335957 RCV004527910 RCV004539017 RCV004531651 RCV004529806 RCV004534211 RCV004529778 RCV004739307 RCV004739308 RCV004532351 RCV004528111 RCV004532352 RCV004724742 RCV004528141 RCV004724743 RCV004542649 RCV004724753 RCV003335051 RCV004532475
See cases	Likely pathogenic; Pathogenic	rs74799832	RCV005887525
Sensorineural hearing loss disorder	Pathogenic	rs1564494285	RCV000721942
Thyroid carcinoma, sporadic medullary	Likely pathogenic; Pathogenic	rs74799832	RCV000014942
Thyroid gland carcinoma	Likely pathogenic; Pathogenic	rs75076352	RCV000677899

Unknown
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
-	no classification for the single variant	rs387906531	-
Abnormal facial shape	Uncertain significance	rs778378926	RCV000782134
Breast carcinoma	Uncertain significance	rs1837066964	RCV002245970
Breast-ovarian cancer, familial, susceptibility to, 1	Conflicting classifications of pathogenicity	rs17158558	RCV001822995
Cholangiocarcinoma	Benign	rs2565206	RCV005905367
Clear cell carcinoma of kidney	Benign; Likely benign	rs1800859	RCV005887633
Congenital anomaly of kidney and urinary tract	Uncertain significance; Conflicting classifications of pathogenicity	rs762626209, rs140638866, rs1416677590	RCV002470810 RCV000416603 RCV001328256
Congenital central hypoventilation	Conflicting classifications of pathogenicity; Benign; Likely benign	rs142338976, rs76397662	RCV001294030 RCV000014974
Diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype	Conflicting classifications of pathogenicity	rs373594744	RCV003313129
Elevated basal serum calcitonin	Conflicting classifications of pathogenicity	rs148935214	RCV000148770
Ependymoma	Conflicting classifications of pathogenicity	rs1564493414	RCV000761047
Ewing sarcoma of soft tissue	Conflicting classifications of pathogenicity	rs201740483	RCV000761007
Familial cancer of breast	Benign; Likely benign; Uncertain significance; Conflicting classifications of pathogenicity	rs1800859, rs752534928, rs77724903	RCV005887631 RCV005932061 RCV000754613
Familial hyperparathyroidism or Hypocalciuric hypercalcaemia	Benign; Likely benign; Conflicting classifications of pathogenicity; Uncertain significance	rs551159582, rs774092678, rs763489828, rs138847998, rs151148041, rs745418960	RCV006439649 RCV006439686 RCV006277763 RCV006436727 RCV006443461 RCV006436840
Family history of cancer	Uncertain significance	rs1837066964	RCV002245970
Hereditary cancer	Conflicting classifications of pathogenicity; Uncertain significance	rs527726480, rs142345108, rs748852160, rs200956659, rs34682185, rs377767416, rs146838520, rs746970700	RCV003492551 RCV003492597 RCV003491956 RCV003492013 RCV003492298 RCV003492299 RCV005600620 RCV005231338
Hirschsprung Disease, Dominant	Conflicting classifications of pathogenicity; Benign; Likely benign; Uncertain significance	rs576806329, rs546866208, rs886046989, rs886046991, rs886046998, rs886047003, rs143369221, rs756051983, rs886046992, rs886046993, rs886046996, rs886047010, rs200468424, rs886047007, rs886046983, rs775842917, rs138847998, rs886046988, rs201945709, rs1588882236, rs886047000, rs886047001, rs886047004, rs886047005, rs886047008, rs886047009, rs10900296, rs10900297, rs377767392	RCV000263104 RCV000338812 RCV000351301 RCV000400079 RCV000332648 RCV000380262 RCV000396957 RCV000390066 RCV000378016 RCV000280125 RCV000268470 RCV000348963 RCV000351814 RCV000298137 RCV000325032 RCV000352045 RCV000362457 RCV000279714 RCV000295662 RCV000305093 RCV000299755 RCV000369398 RCV000349233 RCV000276919 RCV000322629 RCV000328952 RCV000281211 RCV000317662 RCV000330417
Hirschsprung disease, protection against	Benign; Likely benign	rs3026785	RCV000014982
Malignant lymphoma, large B-cell, diffuse	Benign; Conflicting classifications of pathogenicity	rs760466, rs1799939, rs2565206	RCV005894124 RCV005888634 RCV005905365
Malignant tumor of breast	Conflicting classifications of pathogenicity	rs17158558, rs1366681125, rs139790943	RCV001269493 RCV001269372 RCV001269367
Medulloblastoma	Uncertain significance	rs751572082	RCV000761173
Medulloblastoma non-WNT/non-SHH	Conflicting classifications of pathogenicity	rs146838520	RCV006253679
Megacolon	Uncertain significance	rs778378926	RCV000782134
Melanoma	Conflicting classifications of pathogenicity; Uncertain significance	rs201992974, rs78347871, rs759229505	RCV005890501 RCV005939434 RCV005899437
Microcephaly	Conflicting classifications of pathogenicity	rs543376293	RCV001252827
Neoplasm	Uncertain significance	rs1588874193, rs137855422	RCV004669121 RCV006274168
Ovarian serous cystadenocarcinoma	Uncertain significance	rs763526874	RCV005899436
Pilocytic astrocytoma	Conflicting classifications of pathogenicity	rs549907428	RCV000761174
Prostate neoplasm	Conflicting classifications of pathogenicity	rs1799939	RCV005628136
Renal hypodysplasia/aplasia 1	Benign; Likely benign; Conflicting classifications of pathogenicity; Uncertain significance	rs1800860, rs2435351, rs1800859, rs9282835, rs528823385, rs115423919, rs373540097, rs147219360, rs149768519, rs55862116, rs201740483, rs551159582, rs144192900, rs55810667, rs576806329, rs141185224, rs151267865, rs149926238, rs56195026, rs756465544, rs758298916, rs546866208, rs762626209, rs781145070, rs150329150, rs145798106, rs137928436, rs765463636, rs753733901, rs145122337, rs201816539, rs113931414, rs77724903, rs17158558, rs76397662, rs3026785, rs75686697, rs76736111, rs886046985, rs886046987, rs567967877, rs886046989, rs558718557, rs886046991, rs886046995, rs886046998, rs185408658, rs886047002, rs886047003, rs886047006, rs572936041, rs886047012, rs143369221, rs886046984, rs756999107, rs543376293, rs886046990, rs141460872, rs756051983, rs886046992, rs886046993, rs886046996, rs886047010, rs535080963, rs2742241, rs142572876, rs117119161, rs200468424, rs886046986, rs776223166, rs532810255, rs141347316, rs201550433, rs3026782, rs886046997, rs551902553, rs886047007, rs192065891, rs76759170, rs145954635, rs886047013, rs146771196, rs886046983, rs764938319, rs775842917, rs138847998, rs886046988, rs745650861, rs17028, rs201945709, rs1588882236, rs886047000, rs886047001, rs886047004, rs886047005, rs2435355, rs886047008, rs886047009, rs149252070, rs886047011, rs10900296, rs10900297, rs375573788, rs144269978, rs34682185, rs75873440, rs377767392, rs148935214, rs1799939, rs1800862, rs1800863, rs201568301, rs1060500762, rs537523906, rs895556824, rs145633958, rs769595884, rs375120544, rs745418960, rs753707182, rs553418132, rs374565577, rs371153966, rs780120451, rs1554819519, rs192489011, rs199718928, rs139790943, rs35118262, rs766330880, rs369769303, rs1564490122, rs774983492, rs1837785673, rs1359755826, rs567112195, rs765384640, rs746055866, rs1206429429, rs199639914, rs1838381962, rs1838382247, rs568766449, rs564665995, rs1838396430, rs143948954, rs1353594500, rs141016377, rs775114955, rs886985086, rs1838409564, rs183817000, rs1019095754, rs956882000, rs1837741280, rs1838016447	RCV000380264 RCV000334351 RCV000364069 RCV000364568 RCV000374727 RCV000282253 RCV001107047 RCV001107243 RCV001102661 RCV000291595 RCV001106025 RCV001108243 RCV001103048 RCV000291430 RCV000302880 RCV001102745 RCV001105644 RCV000327857 RCV001105910 RCV000304884 RCV001107612 RCV000281539 RCV000380664 RCV001102658 RCV000297432 RCV000288556 RCV000398250 RCV001103998 RCV001107138 RCV000369018 RCV001105913 RCV001104291 RCV000400976 RCV000354936 RCV001106778 RCV000288793 RCV000014983 RCV000014984 RCV000369892 RCV000379414 RCV000358721 RCV000399319 RCV000263605 RCV000299661 RCV000309584 RCV000389582 RCV000283152 RCV000329039 RCV000278865 RCV000373474 RCV000290403 RCV000322689 RCV000344157 RCV000400846 RCV000265740 RCV000305137 RCV000327627 RCV000340605 RCV000312483 RCV000324570 RCV000337622 RCV000303593 RCV000389194 RCV000360640 RCV000271216 RCV000386482 RCV000331623 RCV000390153 RCV000332410 RCV000393718 RCV000389662 RCV000343375 RCV000270886 RCV000272787 RCV000262215 RCV000351376 RCV000356720 RCV000335170 RCV000393339 RCV000390291 RCV000390500 RCV000322214 RCV000383449 RCV000363157 RCV000402202 RCV000272691 RCV000378390 RCV000303500 RCV000333449 RCV000350514 RCV000399835 RCV000356820 RCV000277277 RCV000301310 RCV000313199 RCV000379318 RCV000352985 RCV000288888 RCV000399812 RCV000316975 RCV000297500 RCV000320981 RCV000350719 RCV001107248 RCV001102854 RCV000354891 RCV001107802 RCV000315977 RCV001104575 RCV000290703 RCV000359214 RCV000280812 RCV001107134 RCV001107517 RCV001105645 RCV001107049 RCV001108849 RCV001107715 RCV001103895 RCV001107247 RCV001105730 RCV001104777 RCV001102948 RCV001105727 RCV001106847 RCV001102855 RCV000368621 RCV001104858 RCV001103898 RCV001104179 RCV001106021 RCV001104475 RCV001103792 RCV001104667 RCV001107617 RCV001103595 RCV001103596 RCV001106684 RCV001104384 RCV001102552 RCV001104961 RCV001106119 RCV001108332 RCV001103154 RCV001105067 RCV001105160 RCV001105165 RCV001106291 RCV001103337 RCV001105257 RCV001108596 RCV001103423 RCV001103516 RCV001105443 RCV001106589 RCV001104183 RCV001102655
Renal hypoplasia/aplasia	Conflicting classifications of pathogenicity	rs146838520	RCV001281276
Sarcoma	Benign; Likely benign	rs1800859	RCV005887634
Thymoma	Benign	rs2565206	RCV005905366
Thyroid cancer, nonmedullary, 1	Benign; Likely benign	rs1800859	RCV005887635
Uterine carcinosarcoma	Conflicting classifications of pathogenicity	rs1799939	RCV005888635
Uterine corpus endometrial carcinoma	Benign; Likely benign	rs1800859	RCV005887636

Associations from Text Mining
Disease Name	Relationship Type	References
Abdominal Injuries	Associate	22270996
Abortion Habitual	Associate	23583422
Accidental Injuries	Associate	15812549
Achondroplasia	Associate	22879958, 30355600
Acquired Immunodeficiency Syndrome	Associate	15557181
Acrocephalosyndactylia	Associate	22879958
Actin Accumulation Myopathy	Associate	27717313
Acute On Chronic Liver Failure	Associate	25479139
Adenocarcinoma	Associate	20237991, 20696054, 23298489, 23479507, 24037524, 24504365, 26315110, 26317919, 28460442, 30131091, 36153371, 40300279
Adenocarcinoma Follicular	Associate	23025542
Adenocarcinoma Mucinous	Associate	28851076, 34741450
Adenocarcinoma of Lung	Associate	22194472, 22975805, 23052255, 23342255, 23533264, 24037524, 24346100, 24722148, 24722152, 25234288, 25436805, 25500544, 25567908, 25760072, 25978653, 25982012, 25985019, 26268359, 26424208, 26469915, 26845116, 26992220, 27151654, 27563816, 27615396, 27825636, 28177518, 28460442, 28500237, 28914263, 28971587, 29039585, 29364576, 29434222, 29473341, 29580750, 29667179, 30072189, 30115026, 30653139, 30744664, 31155235, 31211614, 31386689, 31594446, 32235589, 32587276, 33140254, 33370472, 33495574, 33960703, 36494074, 37190044, 37478265, 38057798, 38235141, 39354540, 40209611, 40751559
Adenoma	Associate	31248021, 36973752
Adenoma Pleomorphic	Associate	33727696
Adenomatous Polyposis Coli	Associate	9916927
Adrenal Gland Neoplasms	Associate	9703361
Adrenocortical Carcinoma	Associate	33615670
adult multisystem inflammatory disease COVID 19 related	Associate	31471357
Agnosia	Associate	23650283
Allanson Pantzar McLeod syndrome	Associate	23563004
Altitude Sickness	Associate	35668171
Alzheimer Disease	Associate	36759259
Amyloidosis	Associate	8757765
amyloidosis IX	Associate	19445625, 26356818
Anemia Sickle Cell	Associate	28930629
Aneurysm Ruptured	Stimulate	25885003
Anorectal Malformations	Associate	20123584
Antiphospholipid Syndrome	Associate	38155384
Appendicitis	Associate	34981673
Arthritis Rheumatoid	Associate	10233855
Ataxia Telangiectasia	Associate	19500021
Atypical Squamous Cells of the Cervix	Associate	29469940, 31535668
Autism Spectrum Disorder	Associate	24150225
Autistic Disorder	Associate	22833194
Behcet Syndrome	Associate	10922382
Blood Coagulation Disorders	Stimulate	26884431
Body Weight	Associate	25436805
Bone Diseases	Associate	36646211
Brachydactyly Type B1	Associate	10986040
Brain Neoplasms	Associate	20030644, 27503856, 30429449
Breast Neoplasms	Associate	12853700, 15530851, 16457687, 17189388, 18853468, 19372587, 21707964, 21814748, 21947652, 21978374, 23334330, 23650283, 24466333, 24467886, 24519943, 25971960, 26716506, 27034161, 27153554, 27863425, 27903634, 30189722, 30621641, 30962283, 31059536, 32348852, 32957504, 33040720, 33374832, 34190716, 34710947, 36124682, 37061618, 37569547, 37779428, 37972337, 39671698
Burkitt Lymphoma	Associate	23143597
Cakut	Associate	22729463, 24429398, 31471357
Calcinosis Cutis	Associate	26065416, 26829565
Carcinogenesis	Associate	10646882, 11742034, 21112821, 23279575, 24722152, 27469332, 28196140, 28257124, 28647780, 29197744, 30467698, 31821746, 34234737, 35220468, 35705526, 36166639, 36543142, 7627269
Carcinoid Tumor	Associate	23444222, 40234130
Carcinoma	Associate	31219820, 35900506, 36229858
Carcinoma Acinar Cell	Associate	31558784
Carcinoma Adenoid Cystic	Associate	33628594
Carcinoma Basal Cell	Associate	36788083
Carcinoma Hepatocellular	Associate	25251599, 28350084, 32100934, 34710947, 36433941
Carcinoma Intraductal Noninfiltrating	Associate	29443014, 30610524, 31162284, 31427558, 31989433, 32661669, 33991527, 34985683
Carcinoma Large Cell	Associate	26317919
Carcinoma Medullary	Associate	10550306, 18976013, 36936146
Carcinoma Non Small Cell Lung	Associate	22194472, 22215748, 23154546, 23226491, 23342255, 23400546, 23533264, 24346091, 24418728, 24504365, 25122427, 25384172, 25881079, 25905642, 25982012, 26762747, 26853422, 27151654, 27488371, 27635639, 27671334, 27803005, 27825636, 28346673, 28415793, 28447912, 29130105, 29473341, 29908090, 30257958, 30325992, 30429449, 30487236, 30653139, 30718102, 30902917, 30914778, 30943926, 31300450, 31320002, 31419057, 31698333, 32240796, 32295619, 32657049, 32729257, 32823007, 32846060, 33007380, 33030101, 33082208, 33150799, 33161056, 33300283, 33324391, 33402119, 33655698, 34232984, 34310819, 34881519, 35061839, 35066105, 35093316, 35220468, 35289703, 35491960, 35692096, 35816050, 35978072, 36059009, 36256645, 36451418, 36571695, 36705391, 36996322, 37218138, 37223888, 37243883, 37445709, 37478265, 37556776, 37714814, 37718634, 37747438, 37779428, 37924363, 37948122, 37972337, 38132167, 38235141, 38417095, 38470611, 38492039, 38593479, 39497173, 39748713, 40122160, 40247220, 40591555
Carcinoma Pancreatic Ductal	Associate	16858191, 20922806, 27259358, 27321183, 31162284, 31311829, 36409970
Carcinoma Papillary	Associate	1381340, 15119004, 15502856, 1569189, 15805688, 15812549, 16015630, 18498667, 21396847, 24591770
Carcinoma Papillary Follicular	Associate	24798740
Carcinoma Renal Cell	Associate	15841082, 19473483, 19888345, 21396847, 25120806, 26287733, 27092013, 36471407, 37898101, 38131663
Carcinoma Small Cell	Associate	38057798
Carcinoma Squamous Cell	Associate	20237991, 22009481, 35705526, 39518907
Carcinoma Squamous Cell	Stimulate	33402119
Cardiofaciocutaneous syndrome	Associate	22946697
Cardiomyopathies	Associate	28594148
Cardiomyopathy Dilated	Associate	28594148
Cell Transformation Neoplastic	Associate	11747322, 34905813, 36166639
Cholangiocarcinoma	Associate	34697068, 35478117
Chondrosarcoma Extraskeletal Myxoid	Associate	28423517
Chromosome Aberrations	Associate	28609009
Chromosome Disorders	Associate	32761646
Chromosome Duplication	Associate	22729463
Cleft Palate	Associate	32948239
Colonic Diseases	Associate	22751117, 28179590
Colonic Neoplasms	Associate	14742435
Colorectal Neoplasms	Associate	14742435, 18612427, 21170361, 21464950, 22751117, 24205104, 24475022, 24560444, 25926053, 26078337, 26351322, 27118999, 29045518, 29538669, 30535864, 31545548, 31548566, 31782259, 33414136, 34405229, 34710947, 34741450, 35008821, 35237889, 35584350, 36053834, 37686416, 40743555
Colorectal Neoplasms	Inhibit	33906292
Colorectal Neoplasms Hereditary Nonpolyposis	Associate	33615670
Congenital Abnormalities	Associate	12865274, 22879958
Congenital central hypoventilation syndrome	Associate	28433712
Congenital disorder of glycosylation type 1C	Associate	29443014
Congenital Hypothyroidism	Associate	16015630
Congenital Hypothyroidism	Stimulate	23436219
Constriction Pathologic	Associate	34858321
Corneal Endothelial Cell Loss	Associate	38141279
Costello Syndrome	Associate	30355600
Crohn Disease	Associate	10922382
Cryptorchidism	Associate	22729463
Cushing Syndrome	Associate	9703361
Cystic Fibrosis	Associate	9380706
Desmoid disease hereditary	Associate	20824794
Developmental Defects of Enamel	Associate	11535584
Developmental Disabilities	Associate	19306335, 21490379, 27086544
Diabetic Angiopathies	Associate	24572151
Diarrhea	Associate	29912274
Disease	Associate	16555619, 28930629, 30321177, 7627269
Diverticular Diseases	Inhibit	28152033
Diverticular Diseases	Associate	31019703
Diverticulum	Inhibit	28152033
Dizziness	Associate	37335636
Down Syndrome	Associate	10458491, 19306335
Dystonic Disorders	Associate	27610696, 29066476, 30624503, 8825918
Ectodermal Dysplasia	Associate	20824047, 35563746
Encephalitis Herpes Simplex	Associate	28500237
Endocrine Gland Neoplasms	Associate	31288802
Endocrine System Diseases	Associate	29608602
Endometrial Neoplasms	Associate	35978072, 37686416
Endometrial Stromal Tumors	Associate	33077922
Enteritis	Associate	10978357
Epilepsy	Associate	33274363
Esophageal Squamous Cell Carcinoma	Associate	27172793, 36978187
Esthesioneuroblastoma Olfactory	Associate	27149458
Exanthema	Associate	30653139
Extranodal Extension	Associate	30903583
Familial medullary thyroid carcinoma	Associate	10484798, 10622534, 11429053, 12409662, 16158949, 17065770, 17704047, 20119574, 20516206, 21479187, 21655256, 22747440, 23201134, 23563004, 24449023, 24716929, 24805091, 25694125, 26356818, 26758973, 28647780, 30936199, 31510104, 32408902, 32458635, 33402557, 37175550, 38027168, 7627269, 7906417, 8093642, 8556059, 8732448, 8829625, 9263528, 9617347, 9681852, 9950371
Fibroma	Associate	29049491
Fibrosarcoma	Associate	31219820, 33850302
Fraser Syndrome	Associate	29197384
Friedreich Ataxia 1	Associate	23025542
Gastrointestinal Diseases	Associate	20532249, 35647935
Gastrointestinal Stromal Tumors	Associate	11334388, 18521081, 19164557, 20231287, 20512492, 25349971, 25659388, 27469332, 27965460, 29206199, 30488756, 35499757, 35904169, 36921738, 38191907, 40133893
Genetic Diseases Inborn	Associate	30624503, 9881906
Genetic Predisposition to Disease	Associate	24810336
Giant Cell Tumor of Tendon Sheath	Associate	33727696
Glaucoma	Associate	9541448
Glioblastoma	Associate	20030644, 21408136, 23690991, 23874926, 25500544, 25943352, 25980499, 28208648, 29342193, 31000415, 31290679, 32669109, 34041811, 35055167, 35075231, 36496976, 37494539, 39849652
Glioma	Associate	19519771, 25500544, 25980499, 26091668, 26700815, 35894143, 36496976, 37349135, 38109857
Glycogen Storage Disease Type IV	Associate	38260132
Glycosuria Renal	Associate	18820179, 22729463
Goiter	Associate	1381340, 15858153
Goiter Nodular	Associate	27802347
Growth Disorders	Associate	32948239
Hamartoma Syndrome Multiple	Associate	29049491, 29684080
Hashimoto Disease	Associate	40269951
Head and Neck Neoplasms	Associate	19906784, 20237991, 25500544, 28025482, 35461210
Heart Failure	Associate	24681018
Hemangioblastoma	Associate	20730556
Hemangiosarcoma	Stimulate	24983371
Hematologic Neoplasms	Associate	15339674, 25978653, 37778450, 9834219
Hemochromatosis	Associate	9380706
Hepatomegaly	Associate	29912274
Hereditary Angioedema Type III	Associate	21947652
Hereditary Breast and Ovarian Cancer Syndrome	Associate	23967248
Hereditary leiomyomatosis and renal cell cancer	Associate	12199785
Hereditary renal agenesis	Associate	18252215, 22729463, 24152999, 27717313, 34311961
Hereditary Sensory and Autonomic Neuropathies	Associate	11071380
Hirschsprung Disease	Associate	10204848, 10369718, 10458491, 10528857, 10618407, 10922382, 10978357, 11302967, 11390647, 11445581, 11535584, 12065680, 12214285, 12439935, 12474140, 12865274, 15633231, 15805159, 15956201, 16534860, 16618617, 16816022, 17108762, 18248681, 18772120, 19196962, 19282698, 19306335, 19666486, 19925665, 20089534, 20123584, 20361209, 20532249, 20598273, 21283760, 21349203, 21490379, 21858136, 21995290, 22174939, 22395866, 22648184, 23372769, 23527089, 24152999, 24805091, 24845202, 24897126, 25267720, 25310821, 25437590, 25475805, 25666438, 26191260, 26395553, 26829565, 26933947, 27034161, 27717313, 28256518, 28342760, 28433712, 28930629, 29261189, 29379196, 31666091, 31767031, 32139661, 32948239, 33178831, 33342844, 34006365, 34092334, 36443333, 37490568, 37948459, 38623803, 7643365, 7815416, 8630503, 9575150, 9681852, 9824583, 9881906
Hirschsprung disease 1	Associate	23840513
Histiocytosis	Associate	31768065
HIV Infections	Associate	15557181
Hyperaldosteronism	Associate	9703361
Hyperlipidemias	Associate	22369086
Hyperparathyroidism	Associate	19034701, 26497911, 29983117
Hyperparathyroidism Primary	Associate	17527003, 23547958, 24684035, 33233395, 37465121, 38027168
Hyperplasia	Associate	12085189, 12409662, 21655256, 39842635, 7915822, 9263528
Hypertension	Associate	22035350, 31062739
Hypomagnesemia primary	Associate	25381062
Hypoxia	Stimulate	35674115
Inflammation	Associate	15557181, 16203990, 22087277, 23527089, 30254191, 34734092
Inflammation	Stimulate	23650283
Inflammatory Bowel Diseases	Associate	32761646
Intestinal Diseases	Associate	10369718, 27717313
Intestinal Obstruction	Associate	32948239
Intestinal Pseudo Obstruction	Associate	20123584
Intracranial Arterial Diseases	Associate	25982012
Islet cell tumor syndrome	Associate	35627249
Isodicentric Chromosome 15 Syndrome	Associate	25381062
Kabuki syndrome	Associate	35676000
Kidney Diseases	Associate	18252215, 22035350, 36408280
Leiomyosarcoma	Associate	36845229
Leukemia	Associate	30936199, 31618586, 7761424
Leukemia B Cell	Associate	9108413
Leukemia Biphenotypic Acute	Associate	32661669
Leukemia Lymphocytic Chronic B Cell	Associate	21135257, 23593420, 25673699
Leukemia Mast Cell	Associate	17259998
Leukemia Myeloid Acute	Associate	11468194, 12036858, 12969963, 14670924, 16868253, 17498302, 20056794, 22212957, 23321254, 23393162, 25715404, 26172401, 27535106, 28727840, 30389660, 30936199, 32092139, 37392657, 9108413
Leukemia Myelomonocytic Acute	Associate	10233387
Leukemia Promyelocytic Acute	Associate	16619525
Liposarcoma Myxoid	Associate	20522586
Lung Neoplasms	Associate	21847121, 22194472, 23052255, 23108047, 23342255, 23533264, 24285539, 24346100, 24418728, 24759083, 25477232, 25546157, 25982012, 26073592, 26424208, 26762747, 27056998, 27179848, 27825636, 28145866, 28181564, 28447912, 28914263, 29121914, 29667179, 29908090, 30115026, 30131091, 30943926, 30972901, 31228623, 31316108, 32587276, 32930123, 33082208, 33272981, 33588111, 33602172, 33758332, 34710947, 35304457, 35305401, 35718095, 35816050, 36089134, 36471407, 36646211, 36996232, 36996322, 37121144, 37277734, 37445709, 37478265, 37762506, 38198957
Lymphatic Diseases	Associate	18652760, 26784937, 35397361
Lymphatic Metastasis	Associate	10484798, 16203990, 20119574, 22676344, 26829565, 27563816, 27779515, 27841128, 29901149, 30254191, 30467698, 30903583, 32732929, 37081757, 37188126, 40269951
Lymphatic Metastasis	Inhibit	33906292
Lymphatic Vessel Tumors	Associate	10856194
Lymphoma B Cell	Associate	23285131
Lymphoma Non Hodgkin	Associate	24548782, 34597458
Lymphoma T Cell	Associate	25791160
Malaria Cerebral	Associate	26884431
Mammary Analogue Secretory Carcinoma	Associate	31502214
MASS syndrome	Associate	23645647, 28099363
Mast Cell Activation Disorders	Associate	32575785
Mastocytosis Systemic	Associate	15972446, 17662084
Medullary cystic kidney disease 1	Associate	37335636
Medullary Sponge Kidney	Associate	29983117, 37335636
Melanoma	Associate	19010823, 19561646, 19671763, 19847190, 22157936, 22189301, 23593420, 23617806, 25339196, 25769001, 27102439, 27689874, 33378376, 35798875, 35871080, 36251678, 37252843
Melanoma Cutaneous Malignant	Associate	19561646, 22189301, 35978072
Meningeal Carcinomatosis	Associate	11747322
Mesothelioma Malignant	Associate	16077404, 22246193, 23361052
Metabolic Diseases	Associate	34769224
Metabolic Syndrome	Associate	36597718
Microsatellite Instability	Associate	35584350
Mouth Diseases	Associate	29049491
Moyamoya Disease	Associate	34858321
Mucolipidoses	Associate	11900218
Multiple Endocrine Neoplasia	Associate	16782438, 20824794, 21490379, 22879958, 29237911, 32570972, 33525725, 8757765
Multiple Endocrine Neoplasia Type 1	Associate	33233395
Multiple Endocrine Neoplasia Type 2a	Associate	10225670, 10526879, 10539905, 10622534, 10947080, 11232007, 11390647, 11429053, 11494117, 11900218, 12000816, 12042015, 12409662, 12474140, 12755958, 1362406, 1362408, 1362410, 15858153, 15956201, 16123037, 16158949, 16162881, 16707008, 16782438, 17065770, 17384210, 17527003, 17623957, 17664273, 17704047, 17898100, 18765511, 18845906, 1978561, 19801688, 19841562, 19906784, 20063095, 20516206, 21112821, 21479187, 21655256, 22189301, 23563004, 23749818, 23766359, 23868299, 23873422, 24030942, 24152999, 24331334, 24449023, 24684035, 2576936, 25795775, 26065416, 26366543, 26457501, 26497911, 26732158, 26758973, 26884116, 27034161, 27673361, 27809725, 27838608, 28099363, 28181547, 28883010, 29049491, 29197744, 29237911, 29396759, 29779047, 30936199, 31062739, 31150358, 31288802, 31471357, 32219805, 32532875, 33402557, 33525725, 33827484, 34087905, 34092334, 34905813, 34925234, 35627249, 35676000, 35894740, 35985422, 36936146, 39285761, 39842635, 40051325, 7495285, 7627269, 7906417, 7915822, 7916559, 7943181, 7961113, 8093642, 8556059, 8556060, 8678956, 8732448, 8757765, 8825918, 8829625, 9179691, 9263528, 9380706, 9575150, 9617347, 9703361, 9824583, 9881906, 9950371
Multiple Endocrine Neoplasia Type 2b	Associate	10076558, 10369718, 10622534, 11429053, 11442663, 11900218, 1362412, 15181227, 16749656, 16829704, 18258924, 21186952, 23563004, 23645647, 23868299, 28181547, 28925363, 29049491, 29237911, 29908090, 30135345, 30660595, 31510104, 32448901, 33191720, 33268590, 33525725, 33541961, 33827484, 34092334, 7495285, 7627269, 7627271, 7906417, 7961113, 7977365, 8093642, 9447290, 9541448, 9617347, 9681852
Multiple Myeloma	Associate	16166596
Muscular Atrophy Spinal	Associate	35241415
Myeloproliferative Disorders	Associate	11739186
Myocardial Infarction	Associate	22369086
Myotonic Dystrophy	Associate	24331334
Nasopharyngeal Neoplasms	Associate	35394843
Neoplasm Invasiveness	Associate	31162284
Neoplasm Metastasis	Associate	11232007, 20526288, 23226491, 27092013, 27172793, 27889930, 29131865, 29445192, 30429449, 31219820, 32187423, 32681075, 33382403, 34237031, 34741450, 34830178, 35015563, 37882481, 38198957, 39671698, 39673828
Neoplasm Metastasis	Stimulate	26258321
Neoplasm Metastasis	Inhibit	37842841
Neoplasms	Associate	10225670, 10934142, 11232007, 11494117, 11950855, 12755957, 12865274, 1381340, 1542652, 15801956, 15812549, 15968271, 16555619, 16641909, 16858191, 17189382, 18455122, 18483264, 18505566, 18652760, 18765511, 19010823, 19401695, 19519771, 19561646, 19805545, 19887470, 19897677, 19903778, 19943845, 20101222, 20368568, 20498137, 20522586, 20677833, 20696054, 20703476, 20824047, 20922806, 21134548, 21173509, 21220347, 21396847, 21436994, 21454604, 21454698, 21487020, 21543427, 21847121, 21880806, 22194472, 22242939, 22410775, 22573489, 22605650, 22676344, 22941289, 22945653, 22976495, 23056595, 23117882, 23324396, 23342255, 23361052, 23533233, 23533264, 23661698, 23690991, 23936147, 24037524, 24248188, 24285539, 24325461, 24326683, 24327398, 24386391, 24417340, 24418728, 24423287, 24445538, 24519943, 24560444, 24662823, 24694336, 24716929, 24798740, 25015329, 25074939, 25103625, 25319874, 25330015, 25381062, 25384172, 25404506, 25405368, 25482942, 25576899, 25612511, 25723109, 25881079, 25978653, 26053092, 26073592, 26124082, 26469915, 26667302, 26760782, 26773571, 26786320, 26840079, 26861043, 26910217, 26930004, 27092013, 27149458, 27151654, 27503856, 27620278, 27802347, 28069693, 28122586, 28433076, 28437395, 28569218, 28776571, 28802831, 28911154, 28914263, 29045520, 29076873, 29122777, 29159601, 29434222, 29473341, 29490281, 29518763, 29538669, 29580750, 29608602, 29610391, 29648580, 29684080, 29912274, 29967074, 30072189, 30108175, 30200486, 30321177, 30429449, 30487236, 30550870, 30552739, 30610524, 30659000, 30962283, 30996049, 31162284, 31202195, 31219820, 31269715, 31300450, 31320002, 31391007, 31535668, 31550935, 31558784, 31988000, 32018052, 32090079, 32235589, 32336043, 32345963, 32661669, 32823007, 32948239, 32984843, 33082208, 33097651, 33207077, 33272981, 33383911, 33495574, 33525725, 33947839, 34009369, 34024902, 34069138, 34143968, 34190716, 34237031, 34376553, 34655925, 34710947, 34741450, 35008821, 35055167, 35074756, 35220468, 35269445, 35304457, 35315222, 35478134, 35584350, 35621010, 35739509, 35900506, 35962206, 35978072, 35985422, 36013579, 36142729, 36166639, 36437415, 36508165, 36529447, 36602781, 36990046, 37061618, 37061987, 37065756, 37121144, 37146205, 37218138, 37223888, 37307465, 37392657, 37445709, 37717273, 37882481, 37966258, 37972068, 37972337, 38027168, 38132167, 38233864, 38270925, 38470611, 38498417, 39273494, 39363851, 39497173, 39671698, 39716145, 40107157, 7627271, 7961113, 8592333, 8635999, 8829625, 9447290, 9528840, 9617347, 9824583, 9881906
Neoplasms	Inhibit	18650488, 22751117, 28181547, 28257124, 33906292, 40743555
Neoplasms	Stimulate	22558328
Neoplasms Germ Cell and Embryonal	Associate	23056595, 25085632
Neoplasms Glandular and Epithelial	Associate	12085189
Neoplasms Radiation Induced	Associate	12085189, 9528840
Neoplastic Syndromes Hereditary	Associate	10947080, 12042015, 24882762, 25795775, 29197744, 32090079, 32354376, 33827469, 35985422, 36456885, 9818027
Neuroblastoma	Associate	1694838, 17388787, 19320641, 20952403, 20957039, 24349301, 27732954, 32336043, 34115544, 35887076, 37664946, 37948459, 9426223
Neuroectodermal Tumors	Associate	15966897
Neuroendocrine Tumors	Associate	10947080, 20682006, 24037524, 40129208
Neurofibromatosis 1	Associate	37717273
Neurofibrosarcoma	Associate	18650488, 31219820
Neuronal intestinal pseudoobstruction	Associate	11302967, 16534860
Neutropenia	Associate	39497173
Nevus Epithelioid and Spindle Cell	Associate	35319526, 37856952
Oculocutaneous albinism type 2	Associate	24560444
Odontogenic Tumor Squamous	Associate	39273494
Osteofibrous Dysplasia	Associate	26637977
Osteosarcoma	Associate	30742741
Ovarian Neoplasms	Associate	21541037, 24937695, 28728166, 32374631, 33560870
Pancreatic Neoplasms	Associate	18310076, 18381409, 18652760, 22189301, 22275185, 22958871, 31558784, 34839264, 35949061
Papillary renal cell carcinoma sporadic	Associate	15812549
Papillary Thyroid Microcarcinoma	Associate	11742034, 18976013, 20463836, 34731936, 37882481
Paraganglioma	Associate	20205103, 20505258, 20842377, 20980436, 22270996, 24466223, 28122379, 28162975, 37717273
Paraneoplastic Syndromes Ocular	Associate	34075771
Parathyroid Diseases	Associate	19034701, 28760150, 7495285, 8556060
Parathyroid Neoplasms	Associate	28099363, 36808802
Parkinson Disease	Associate	21111805, 33552685
Parkinson Disease	Inhibit	33935108
Peripheral Nervous System Neoplasms	Associate	20526288
Peritonitis	Associate	17527003, 34741450
Personality Disorders	Associate	24897126, 27610696, 30859654
Pheochromocytoma	Associate	10539905, 11404820, 12000816, 1362408, 15858153, 16098460, 17527003, 17704047, 17898100, 19763184, 19906784, 20205103, 20505258, 20842377, 20980436, 21655256, 22270996, 22573489, 22751117, 23868299, 24030942, 24152999, 24331334, 24449023, 24466223, 24684035, 24694336, 24925884, 25494863, 26457501, 26497911, 26732158, 26960314, 27838608, 27992508, 28099363, 28925363, 29159601, 29779047, 30113649, 32219805, 32571297, 33268590, 33397040, 33827484, 33947839, 34234737, 34905813, 34925234, 35627249, 35858593, 35978072, 37335636, 38027168, 40235160, 7627269, 7627271, 7943181, 8556060, 8732448, 8835594, 9703361
Piebaldism	Associate	1384325
Pigmentary Disorder Reticulate with Systemic Manifestations	Associate	26356818, 8752835
Pleural Effusion	Associate	31534501, 36451418
Pneumonia	Associate	37924363
Polyendocrinopathies Autoimmune	Associate	29237911, 37717273
Polyps	Associate	28257124
Post Acute COVID 19 Syndrome	Associate	33342844, 7815416
Post Infectious Disorders	Associate	16641909
Precursor Cell Lymphoblastic Leukemia Lymphoma	Associate	21079657, 23285131, 27683039
Precursor T Cell Lymphoblastic Leukemia Lymphoma	Associate	10233387, 16029448, 27705940
Primary hyperoxaluria type 1	Associate	28433712
Prodromal Symptoms	Associate	25905642, 26258321
Prostate Cancer Hereditary 8	Associate	29197744
Prostatic Neoplasms	Associate	22410775, 23251544, 25575823, 30859654
Prostatitis	Associate	16934755, 25482942, 30859654, 8650201
Protein S Deficiency	Associate	32017710
Pulmonary Edema	Associate	10526879
Radiation Injuries	Associate	24346100
Renal Insufficiency	Associate	36451418
Retinal Dystrophies	Associate	32948239
Rhabdoid Tumor	Associate	15737050
Rhabdomyosarcoma	Associate	29445192, 32532875
Rhabdomyosarcoma Alveolar	Associate	32532875
Salivary Gland Neoplasms	Associate	30610524, 31502214, 33135196, 33991527, 34597458
Sarcoma	Associate	28377632, 35074756, 35978072, 36469155, 37121144
Schwannomatosis	Associate	32017710
Secretory breast carcinoma	Associate	29076873, 31502214, 33991527, 36973972
Segmentation syndrome 1	Associate	33342844
Senior Loken Syndrome	Associate	22729463, 27717313
Severe Acute Respiratory Syndrome	Associate	18252215
Sex Chromosome Disorders of Sex Development	Associate	33424767
SHORT syndrome	Associate	7815416
Signs and Symptoms Digestive	Associate	23645647, 9681852
Small Cell Lung Carcinoma	Associate	25122427, 26802149, 38057798, 38233864, 8635999
Soft Tissue Neoplasms	Associate	32506523
Solitary Fibrous Tumors	Associate	24353015
Solitary Kidney	Associate	18252215, 24152999
Spina Bifida Occulta	Associate	29049491
Squamous Cell Carcinoma of Head and Neck	Associate	27681865, 27889930, 35978072
Squamous Intraepithelial Lesions	Inhibit	40743555
Stomach Neoplasms	Associate	18837080, 27765925, 27779515, 29325228, 34710947
Syndrome	Associate	24121387, 28647780
Tarlov Cysts	Associate	33628594
Teratoma	Associate	28925363
Tertiary Lymphoid Structures	Associate	35015563, 37882481
Thymoma	Associate	22700994
Thymus Neoplasms	Associate	37749819
Thyroid cancer medullary	Associate	10076558, 10076727, 10484798, 10539905, 10622534, 10947080, 11429053, 11442663, 11762820, 11900218, 12042015, 12214285, 12409662, 12474140, 12755957, 1362408, 15516777, 15572361, 15858153, 16707008, 16782438, 17527003, 17623957, 18515739, 18751369, 18765511, 18976013, 19034701, 19401695, 19445625, 19488601, 19841562, 19887470, 19897677, 19903778, 20063095, 20065189, 20368568, 20516206, 20664475, 20672905, 21186952, 21543427, 22162469, 22189301, 22648435, 22676344, 22747440, 22865907, 23158190, 23188542, 23201134, 23259706, 23264394, 23341727, 23563004, 23645647, 23685355, 23766359, 24152999, 24331334, 24449023, 24617864, 24684035, 24716929, 24805091, 24882762, 24993783, 25319874, 25425582, 25546157, 25694125, 25795775, 25931041, 26065416, 26295973, 26307103, 26356818, 26366543, 26497911, 26732158, 26758973, 26829565, 27207748, 27610696, 27620278, 27673361, 27841128, 27847096, 28099363, 28122586, 28181547, 28209747, 28276221, 28609830, 28647780, 28755389, 28760150, 28883010, 28911154, 28925363, 29049491, 29066476, 29396759, 29518763, 29590403, 29745123, 29901149, 29912274, 30135308, 30321177, 30552230, 30624503, 30660595, 30936199, 31062739, 31288802, 31510104, 31549322, 31988000, 32132976, 32219805, 32408902, 32421817, 32458635, 32702947, 32948239, 33097651, 33161056, 33268590, 33361738, 33383911, 33402557, 33525725, 33827484, 33938650, 34680178, 34769224, 34905813, 34925234, 35412008, 35627249, 35894740, 36456885, 36602781, 36749615, 37842841, 38027168, 38132167, 38260132, 38270925, 39285761, 39716145, 39842635, 39963061, 7627269, 7906417, 7915822, 7961113, 8093642, 8556059, 8556060, 8695346, 8732460, 8829625, 9263528, 9447290, 9617347, 9681852, 9818022, 9881906
Thyroid Cancer Papillary	Associate	11389034, 11390647, 11742034, 11747322, 11950855, 12937150, 15119004, 1542652, 15502856, 1569189, 15716612, 15812549, 15968271, 16015630, 16203990, 16365291, 16641909, 16896265, 17156473, 17227125, 17464312, 17727338, 1823030, 18474871, 18498667, 18505566, 18948674, 19223551, 19500021, 20101222, 21103616, 21173509, 21498916, 21947652, 22457234, 22605559, 22682753, 23025542, 23050789, 23436219, 24327398, 24423287, 24510380, 24798740, 24810336, 24957039, 2516841, 25330015, 25803323, 26258321, 26649796, 26680454, 26784937, 26823860, 27058903, 27314298, 27802347, 28052655, 28069693, 28181547, 28209747, 28417935, 28507274, 28609009, 29108474, 29117154, 29214440, 29610391, 30254191, 30429449, 30467698, 30659000, 30903583, 31062739, 31168201, 31288802, 32187423, 32345963, 32767330, 33382403, 34024902, 34232984, 34237031, 34329840, 34565758, 35269445, 35397361, 36605945, 36973752, 37081420, 37124750, 37146205, 37188126, 37236546, 37882481, 38044137, 38472412, 40269951, 40338900, 8353035, 8761374, 9528832, 9881906, 9916927
Thyroid Cancer Papillary	Stimulate	17210721, 19995698
Thyroid Carcinoma Anaplastic	Associate	25576899, 26680454, 27841128, 28209747, 28489587, 29615459, 32292131, 34972706, 38044137
Thyroid Diseases	Associate	21048359, 29131865
Thyroid Neoplasms	Associate	11390647, 12085189, 1381340, 1569189, 15812549, 17065770, 18156210, 19138047, 19878585, 20237991, 21289267, 21947652, 22751117, 22887574, 22928011, 23414134, 23436219, 23629654, 23979959, 24248188, 24346100, 24510380, 25330015, 25500544, 25576899, 26065416, 26191299, 26258321, 26259532, 26695504, 26960768, 27058903, 27264674, 27555670, 27717198, 27802347, 28013235, 28069693, 29131865, 29908090, 30467698, 30867499, 31115496, 31578590, 31937902, 32390600, 32737449, 32781560, 32823007, 33161056, 34009369, 34024902, 34237031, 34366324, 34710947, 34972706, 35015563, 35255601, 35269445, 35647935, 35871080, 35978072, 35985422, 36142729, 37081420, 37081757, 37506147, 37622214, 37779428, 37882481, 38165228, 38277563, 38472412, 38642578, 40743555, 8353035, 9703361, 9916927
Thyroid Neoplasms	Stimulate	28225863
Thyroid Nodule	Associate	19138047, 21048359, 21173509, 21190444, 25333496, 25729930, 28417935, 28537891, 31483883, 31623671, 33860907, 35679040, 37744220
Thyroiditis	Associate	18505566, 20703476, 22682753, 27717198, 29469940, 33272981
Thyroiditis Autoimmune	Associate	11747322, 18505566
Thyroiditis Subacute	Associate	12085189
Triple Negative Breast Neoplasms	Associate	30189722, 38172210
Urethral Neoplasms	Associate	37901233
Urinary Bladder Neoplasms	Associate	24325461, 25405368, 25500544, 28075465, 32989154, 36142729
Urologic Diseases	Associate	22729463
Uterine Cervical Neoplasms	Associate	40743555
von Hippel Lindau Disease	Associate	19906784, 37717273, 8825918
Waardenburg Syndrome	Associate	7643365
Walker Warburg Syndrome	Associate	30449416
Werner Syndrome	Associate	34311961
Williams Syndrome	Associate	7643365