MSH3 (mutS homolog 3)

Gene

• Entrez ID: 4437
• Gene name: MutS homolog 3
• Gene symbol: MSH3
• Synonyms (NCBI Gene): DUP, FAP4, MRP1
• Chromosome: 5
• Chromosome location: 5q14.1
• Summary: The protein encoded by this gene forms a heterodimer with MSH2 to form MutS beta, part of the post-replicative DNA mismatch repair system. MutS beta initiates mismatch repair by binding to a mismatch and then forming a complex with MutL alpha heterodimer.

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs41545019	T>G	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant
rs61754780	G>T	Likely-pathogenic	Splice acceptor variant
rs200639359	G>A	Likely-pathogenic	Splice acceptor variant
rs201033017	C>T	Pathogenic	Coding sequence variant, stop gained
rs367544716	G>A	Likely-pathogenic	Splice acceptor variant
rs374133543	C>T	Pathogenic	Coding sequence variant, stop gained
rs376456666	T>C	Likely-pathogenic	Splice donor variant
rs376667075	C>T	Pathogenic	Coding sequence variant, stop gained
rs539295465	C>T	Pathogenic	Coding sequence variant, stop gained
rs578113271	C>G,T	Pathogenic	Coding sequence variant, stop gained, missense variant
rs587776701	A>-,AA	Pathogenic	Coding sequence variant, frameshift variant
rs749929790	G>A	Likely-pathogenic	Splice donor variant
rs750876165	A>C,G	Likely-pathogenic	Splice acceptor variant
rs751236312	->A	Pathogenic	Coding sequence variant, frameshift variant
rs751326348	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs756632960	G>T	Pathogenic	Stop gained, coding sequence variant
rs757194485	AG>-	Pathogenic	Frameshift variant, coding sequence variant
rs758191157	C>G	Pathogenic	Stop gained, coding sequence variant
rs763478027	TGTT>-	Pathogenic	Coding sequence variant, frameshift variant
rs766672143	A>-	Pathogenic	Coding sequence variant, frameshift variant
rs771721952	A>-	Pathogenic	Coding sequence variant, frameshift variant
rs777054839	G>A,T	Pathogenic, uncertain-significance	Coding sequence variant, stop gained, missense variant
rs778610412	AG>-	Pathogenic	Coding sequence variant, frameshift variant
rs866260675	G>A,C	Pathogenic	Splice acceptor variant
rs886037878	A>C	Pathogenic	Splice acceptor variant
rs952650934	C>T	Pathogenic	Stop gained, coding sequence variant
rs1204002507	AT>-	Pathogenic	Frameshift variant, coding sequence variant
rs1234762807	->A	Pathogenic	Coding sequence variant, frameshift variant
rs1455445683	TTTA>-	Pathogenic	Coding sequence variant, frameshift variant
rs1475633334	TTCCCGG>-	Pathogenic	Coding sequence variant, frameshift variant
rs1554070317	A>G	Likely-pathogenic	Splice acceptor variant
rs1561486630	C>G	Pathogenic	Coding sequence variant, stop gained
rs1561486632	AGAG>-,AG	Pathogenic	Coding sequence variant, stop gained, frameshift variant
rs1580027407	A>-	Pathogenic	Frameshift variant, coding sequence variant
rs1580027713	T>C	Likely-pathogenic	Splice donor variant
rs1580033751	->ATAT	Pathogenic	Frameshift variant, coding sequence variant
rs1580035033	->A	Pathogenic	Frameshift variant, coding sequence variant
rs1580035037	A>T	Pathogenic, likely-pathogenic	Stop gained, coding sequence variant
rs1580045730	T>C	Likely-pathogenic	Splice donor variant
rs1580053768	G>A	Likely-pathogenic	Splice donor variant
rs1580066605	T>-	Pathogenic	Frameshift variant, coding sequence variant
rs1580091499	TGAC>-	Pathogenic	Frameshift variant, coding sequence variant
rs1580091512	CA>-	Pathogenic	Frameshift variant, coding sequence variant
rs1580091639	TTTCATCAGAGATGTAAGTATCCGGTAAACTGTATTTAAAAAGAAATTAATTTGTAAATTATTATTTTTAAATGACAGTCATAATTGTGCCATATTTATGGGGTACAATGTGATGTTTTGAAACATATAAACAATATGGAGTGATTAAATTAACCTAATTAACACATTCCTCACCTCATTTAAATATCATTTTTTGTGGTGAGACATTTGAAATTTCTCTTAGTTATTTTGAAATATATATTATTACTGCTGTAG	Likely-pathogenic	Intron variant, splice donor variant, coding sequence variant
rs1580546655	GA>-	Pathogenic	Frameshift variant, coding sequence variant
rs1580546793	C>T	Pathogenic	Stop gained, coding sequence variant
rs1580550290	C>G	Pathogenic	Stop gained, coding sequence variant
rs1580553607	T>-	Pathogenic, likely-pathogenic	Frameshift variant, coding sequence variant
rs1580553624	T>-	Pathogenic	Frameshift variant, coding sequence variant
rs1580553669	->G	Pathogenic	Frameshift variant, coding sequence variant
rs1580556516	C>T	Pathogenic	Stop gained, coding sequence variant
rs1580589397	A>-	Pathogenic	Frameshift variant, coding sequence variant
rs1580589429	GG>C	Pathogenic	Frameshift variant, coding sequence variant
rs1580589463	G>A	Likely-pathogenic	Splice donor variant
rs1580597385	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs1580597397	->AA	Pathogenic	Frameshift variant, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT004747	hsa-miR-326	Luciferase reporter assay, Microarray, qRT-PCR, Western blot	19883630
MIRT042726	hsa-miR-345-5p	CLASH	23622248
MIRT040556	hsa-miR-92b-3p	CLASH	23622248
MIRT719506	hsa-miR-590-3p	HITS-CLIP	19536157
MIRT719505	hsa-miR-6872-3p	HITS-CLIP	19536157
MIRT719504	hsa-miR-4735-5p	HITS-CLIP	19536157
MIRT719503	hsa-miR-4775	HITS-CLIP	19536157
MIRT711546	hsa-miR-939-3p	HITS-CLIP	19536157
MIRT711545	hsa-miR-6852-5p	HITS-CLIP	19536157
MIRT711544	hsa-miR-6742-3p	HITS-CLIP	19536157
MIRT711543	hsa-miR-6787-3p	HITS-CLIP	19536157
MIRT711542	hsa-miR-3120-5p	HITS-CLIP	19536157
MIRT447593	hsa-miR-3182	HITS-CLIP	19536157
MIRT711541	hsa-miR-23a-5p	HITS-CLIP	19536157
MIRT711540	hsa-miR-23b-5p	HITS-CLIP	19536157
MIRT711539	hsa-miR-1343-3p	HITS-CLIP	19536157
MIRT711537	hsa-miR-6783-3p	HITS-CLIP	19536157
MIRT711538	hsa-miR-6888-3p	HITS-CLIP	19536157
MIRT711536	hsa-miR-498	HITS-CLIP	19536157
MIRT711535	hsa-miR-4743-3p	HITS-CLIP	19536157
MIRT711534	hsa-miR-4659a-3p	HITS-CLIP	19536157
MIRT711533	hsa-miR-4659b-3p	HITS-CLIP	19536157
MIRT685538	hsa-miR-106a-5p	HITS-CLIP	23313552
MIRT685537	hsa-miR-106b-5p	HITS-CLIP	23313552
MIRT685536	hsa-miR-17-5p	HITS-CLIP	23313552
MIRT685535	hsa-miR-20a-5p	HITS-CLIP	23313552
MIRT685534	hsa-miR-20b-5p	HITS-CLIP	23313552
MIRT685533	hsa-miR-519d-3p	HITS-CLIP	23313552
MIRT685532	hsa-miR-526b-3p	HITS-CLIP	23313552
MIRT685531	hsa-miR-93-5p	HITS-CLIP	23313552
MIRT685530	hsa-miR-302a-3p	HITS-CLIP	23313552
MIRT685529	hsa-miR-302b-3p	HITS-CLIP	23313552
MIRT685528	hsa-miR-302c-3p	HITS-CLIP	23313552
MIRT685527	hsa-miR-302d-3p	HITS-CLIP	23313552
MIRT685526	hsa-miR-302e	HITS-CLIP	23313552
MIRT685525	hsa-miR-372-3p	HITS-CLIP	23313552
MIRT685524	hsa-miR-373-3p	HITS-CLIP	23313552
MIRT685523	hsa-miR-520a-3p	HITS-CLIP	23313552
MIRT685522	hsa-miR-520b	HITS-CLIP	23313552
MIRT685521	hsa-miR-520c-3p	HITS-CLIP	23313552
MIRT685520	hsa-miR-520d-3p	HITS-CLIP	23313552
MIRT685519	hsa-miR-520e	HITS-CLIP	23313552
MIRT685518	hsa-miR-3159	HITS-CLIP	23313552
MIRT216879	hsa-miR-520g-3p	HITS-CLIP	23313552
MIRT216880	hsa-miR-520h	HITS-CLIP	23313552
MIRT685517	hsa-miR-186-3p	HITS-CLIP	23313552
MIRT685516	hsa-miR-1224-3p	HITS-CLIP	23313552
MIRT685515	hsa-miR-1234-3p	HITS-CLIP	23313552
MIRT685514	hsa-miR-7107-5p	HITS-CLIP	23313552
MIRT685513	hsa-miR-150-5p	HITS-CLIP	23313552
MIRT685512	hsa-miR-1913	HITS-CLIP	23313552
MIRT685511	hsa-miR-324-3p	HITS-CLIP	23313552
MIRT685510	hsa-miR-18a-3p	HITS-CLIP	23313552
MIRT447596	hsa-miR-1246	PAR-CLIP	22100165
MIRT447595	hsa-miR-216b-3p	PAR-CLIP	22100165
MIRT447594	hsa-miR-4742-3p	PAR-CLIP	22100165
MIRT447593	hsa-miR-3182	PAR-CLIP	22100165
MIRT447591	hsa-miR-4635	PAR-CLIP	22100165
MIRT447592	hsa-miR-3686	PAR-CLIP	22100165
MIRT447596	hsa-miR-1246	PAR-CLIP	22100165
MIRT447595	hsa-miR-216b-3p	PAR-CLIP	22100165
MIRT447594	hsa-miR-4742-3p	PAR-CLIP	22100165
MIRT447593	hsa-miR-3182	PAR-CLIP	22100165
MIRT447591	hsa-miR-4635	PAR-CLIP	22100165
MIRT447592	hsa-miR-3686	PAR-CLIP	22100165
MIRT685538	hsa-miR-106a-5p	qRT-PCR	25950430
MIRT706010	hsa-miR-145-5p	Luciferase reporter assay, qRT-PCR, Western blot	26852750
MIRT706010	hsa-miR-145-5p	Luciferase reporter assay, qRT-PCR, Western blot	26852750
MIRT003199	hsa-miR-7-5p	Immunohistochemistry, Luciferase reporter assay, qRT-PCR	26108539
MIRT719506	hsa-miR-590-3p	HITS-CLIP	19536157
MIRT719505	hsa-miR-6872-3p	HITS-CLIP	19536157
MIRT719504	hsa-miR-4735-5p	HITS-CLIP	19536157
MIRT719503	hsa-miR-4775	HITS-CLIP	19536157
MIRT711546	hsa-miR-939-3p	HITS-CLIP	19536157
MIRT711545	hsa-miR-6852-5p	HITS-CLIP	19536157
MIRT711544	hsa-miR-6742-3p	HITS-CLIP	19536157
MIRT711543	hsa-miR-6787-3p	HITS-CLIP	19536157
MIRT711542	hsa-miR-3120-5p	HITS-CLIP	19536157
MIRT447593	hsa-miR-3182	HITS-CLIP	19536157
MIRT711541	hsa-miR-23a-5p	HITS-CLIP	19536157
MIRT711540	hsa-miR-23b-5p	HITS-CLIP	19536157
MIRT711539	hsa-miR-1343-3p	HITS-CLIP	19536157
MIRT711537	hsa-miR-6783-3p	HITS-CLIP	19536157
MIRT711538	hsa-miR-6888-3p	HITS-CLIP	19536157
MIRT711536	hsa-miR-498	HITS-CLIP	19536157
MIRT711535	hsa-miR-4743-3p	HITS-CLIP	19536157
MIRT711534	hsa-miR-4659a-3p	HITS-CLIP	19536157
MIRT711533	hsa-miR-4659b-3p	HITS-CLIP	19536157
MIRT685538	hsa-miR-106a-5p	HITS-CLIP	23313552
MIRT685537	hsa-miR-106b-5p	HITS-CLIP	23313552
MIRT685536	hsa-miR-17-5p	HITS-CLIP	23313552
MIRT685535	hsa-miR-20a-5p	HITS-CLIP	23313552
MIRT685534	hsa-miR-20b-5p	HITS-CLIP	23313552
MIRT685533	hsa-miR-519d-3p	HITS-CLIP	23313552
MIRT685532	hsa-miR-526b-3p	HITS-CLIP	23313552
MIRT685531	hsa-miR-93-5p	HITS-CLIP	23313552
MIRT685530	hsa-miR-302a-3p	HITS-CLIP	23313552
MIRT685529	hsa-miR-302b-3p	HITS-CLIP	23313552
MIRT685528	hsa-miR-302c-3p	HITS-CLIP	23313552
MIRT685527	hsa-miR-302d-3p	HITS-CLIP	23313552
MIRT685526	hsa-miR-302e	HITS-CLIP	23313552
MIRT685525	hsa-miR-372-3p	HITS-CLIP	23313552
MIRT685524	hsa-miR-373-3p	HITS-CLIP	23313552
MIRT685523	hsa-miR-520a-3p	HITS-CLIP	23313552
MIRT685522	hsa-miR-520b	HITS-CLIP	23313552
MIRT685521	hsa-miR-520c-3p	HITS-CLIP	23313552
MIRT685520	hsa-miR-520d-3p	HITS-CLIP	23313552
MIRT685519	hsa-miR-520e	HITS-CLIP	23313552
MIRT685518	hsa-miR-3159	HITS-CLIP	23313552
MIRT216879	hsa-miR-520g-3p	HITS-CLIP	23313552
MIRT216880	hsa-miR-520h	HITS-CLIP	23313552
MIRT685517	hsa-miR-186-3p	HITS-CLIP	23313552
MIRT685516	hsa-miR-1224-3p	HITS-CLIP	23313552
MIRT685515	hsa-miR-1234-3p	HITS-CLIP	23313552
MIRT685514	hsa-miR-7107-5p	HITS-CLIP	23313552
MIRT685513	hsa-miR-150-5p	HITS-CLIP	23313552
MIRT685512	hsa-miR-1913	HITS-CLIP	23313552
MIRT685511	hsa-miR-324-3p	HITS-CLIP	23313552
MIRT685510	hsa-miR-18a-3p	HITS-CLIP	23313552
MIRT447596	hsa-miR-1246	PAR-CLIP	22100165
MIRT447595	hsa-miR-216b-3p	PAR-CLIP	22100165
MIRT447594	hsa-miR-4742-3p	PAR-CLIP	22100165
MIRT447593	hsa-miR-3182	PAR-CLIP	22100165
MIRT447591	hsa-miR-4635	PAR-CLIP	22100165
MIRT447592	hsa-miR-3686	PAR-CLIP	22100165
MIRT447596	hsa-miR-1246	PAR-CLIP	22100165
MIRT447595	hsa-miR-216b-3p	PAR-CLIP	22100165
MIRT447594	hsa-miR-4742-3p	PAR-CLIP	22100165
MIRT447593	hsa-miR-3182	PAR-CLIP	22100165
MIRT447591	hsa-miR-4635	PAR-CLIP	22100165
MIRT447592	hsa-miR-3686	PAR-CLIP	22100165
MIRT1161164	hsa-miR-122	CLIP-seq
MIRT1161165	hsa-miR-125a-3p	CLIP-seq
MIRT1161166	hsa-miR-1267	CLIP-seq
MIRT1161167	hsa-miR-1273f	CLIP-seq
MIRT1161168	hsa-miR-1289	CLIP-seq
MIRT1161169	hsa-miR-129-5p	CLIP-seq
MIRT1161170	hsa-miR-143	CLIP-seq
MIRT1161171	hsa-miR-3135b	CLIP-seq
MIRT1161172	hsa-miR-3170	CLIP-seq
MIRT1161173	hsa-miR-3187-3p	CLIP-seq
MIRT1161174	hsa-miR-3194-3p	CLIP-seq
MIRT1161175	hsa-miR-3198	CLIP-seq
MIRT1161176	hsa-miR-3200-3p	CLIP-seq
MIRT1161177	hsa-miR-320e	CLIP-seq
MIRT1161178	hsa-miR-3545-3p	CLIP-seq
MIRT1161179	hsa-miR-3663-5p	CLIP-seq
MIRT1161180	hsa-miR-3934	CLIP-seq
MIRT1161181	hsa-miR-4294	CLIP-seq
MIRT1161182	hsa-miR-4309	CLIP-seq
MIRT1161183	hsa-miR-431	CLIP-seq
MIRT1161184	hsa-miR-4423-5p	CLIP-seq
MIRT1161185	hsa-miR-4435	CLIP-seq
MIRT1161186	hsa-miR-4476	CLIP-seq
MIRT1161187	hsa-miR-4534	CLIP-seq
MIRT1161188	hsa-miR-4659a-5p	CLIP-seq
MIRT1161189	hsa-miR-4659b-5p	CLIP-seq
MIRT1161190	hsa-miR-4680-5p	CLIP-seq
MIRT1161191	hsa-miR-4701-5p	CLIP-seq
MIRT1161192	hsa-miR-4708-5p	CLIP-seq
MIRT1161193	hsa-miR-4716-5p	CLIP-seq
MIRT1161194	hsa-miR-4755-3p	CLIP-seq
MIRT1161195	hsa-miR-4770	CLIP-seq
MIRT1161196	hsa-miR-4776-3p	CLIP-seq
MIRT1161197	hsa-miR-4781-3p	CLIP-seq
MIRT1161198	hsa-miR-548s	CLIP-seq
MIRT1161199	hsa-miR-548u	CLIP-seq
MIRT1161200	hsa-miR-552	CLIP-seq
MIRT1161201	hsa-miR-588	CLIP-seq
MIRT1161202	hsa-miR-7	CLIP-seq
MIRT1161203	hsa-miR-764	CLIP-seq
MIRT1161204	hsa-miR-924	CLIP-seq
MIRT1161205	hsa-miR-933	CLIP-seq
MIRT2046256	hsa-miR-1203	CLIP-seq
MIRT2046257	hsa-miR-1281	CLIP-seq
MIRT2046258	hsa-miR-1915	CLIP-seq
MIRT2046259	hsa-miR-1976	CLIP-seq
MIRT2046260	hsa-miR-3199	CLIP-seq
MIRT1161177	hsa-miR-320e	CLIP-seq
MIRT2046261	hsa-miR-335	CLIP-seq
MIRT1161180	hsa-miR-3934	CLIP-seq
MIRT2046262	hsa-miR-4279	CLIP-seq
MIRT2046263	hsa-miR-4317	CLIP-seq
MIRT1161184	hsa-miR-4423-5p	CLIP-seq
MIRT2046264	hsa-miR-4722-3p	CLIP-seq
MIRT2046265	hsa-miR-4726-3p	CLIP-seq
MIRT1161200	hsa-miR-552	CLIP-seq
MIRT1161205	hsa-miR-933	CLIP-seq
MIRT2275360	hsa-miR-106a	CLIP-seq
MIRT2275361	hsa-miR-106b	CLIP-seq
MIRT2046256	hsa-miR-1203	CLIP-seq
MIRT1161164	hsa-miR-122	CLIP-seq
MIRT2046257	hsa-miR-1281	CLIP-seq
MIRT2275362	hsa-miR-1307	CLIP-seq
MIRT2275363	hsa-miR-150	CLIP-seq
MIRT2275364	hsa-miR-17	CLIP-seq
MIRT2046258	hsa-miR-1915	CLIP-seq
MIRT2046259	hsa-miR-1976	CLIP-seq
MIRT2275365	hsa-miR-20a	CLIP-seq
MIRT2275366	hsa-miR-20b	CLIP-seq
MIRT2275367	hsa-miR-302a	CLIP-seq
MIRT2275368	hsa-miR-302b	CLIP-seq
MIRT2275369	hsa-miR-302c	CLIP-seq
MIRT2275370	hsa-miR-302d	CLIP-seq
MIRT1161171	hsa-miR-3135b	CLIP-seq
MIRT1161172	hsa-miR-3170	CLIP-seq
MIRT1161173	hsa-miR-3187-3p	CLIP-seq
MIRT2046260	hsa-miR-3199	CLIP-seq
MIRT1161176	hsa-miR-3200-3p	CLIP-seq
MIRT1161177	hsa-miR-320e	CLIP-seq
MIRT1161178	hsa-miR-3545-3p	CLIP-seq
MIRT1161179	hsa-miR-3663-5p	CLIP-seq
MIRT2275371	hsa-miR-372	CLIP-seq
MIRT2275372	hsa-miR-373	CLIP-seq
MIRT1161180	hsa-miR-3934	CLIP-seq
MIRT2046262	hsa-miR-4279	CLIP-seq
MIRT2046263	hsa-miR-4317	CLIP-seq
MIRT1161184	hsa-miR-4423-5p	CLIP-seq
MIRT2275373	hsa-miR-4426	CLIP-seq
MIRT1161185	hsa-miR-4435	CLIP-seq
MIRT2275374	hsa-miR-4438	CLIP-seq
MIRT2275375	hsa-miR-4638-5p	CLIP-seq
MIRT2275376	hsa-miR-4647	CLIP-seq
MIRT1161188	hsa-miR-4659a-5p	CLIP-seq
MIRT1161189	hsa-miR-4659b-5p	CLIP-seq
MIRT2275377	hsa-miR-4662b	CLIP-seq
MIRT1161190	hsa-miR-4680-5p	CLIP-seq
MIRT2275378	hsa-miR-4695-3p	CLIP-seq
MIRT1161191	hsa-miR-4701-5p	CLIP-seq
MIRT1161193	hsa-miR-4716-5p	CLIP-seq
MIRT2046264	hsa-miR-4722-3p	CLIP-seq
MIRT2046265	hsa-miR-4726-3p	CLIP-seq
MIRT2275379	hsa-miR-4731-5p	CLIP-seq
MIRT1161194	hsa-miR-4755-3p	CLIP-seq
MIRT2275380	hsa-miR-4757-5p	CLIP-seq
MIRT1161196	hsa-miR-4776-3p	CLIP-seq
MIRT1161197	hsa-miR-4781-3p	CLIP-seq
MIRT2275381	hsa-miR-5095	CLIP-seq
MIRT2275382	hsa-miR-512-3p	CLIP-seq
MIRT2275383	hsa-miR-519d	CLIP-seq
MIRT2275384	hsa-miR-520g	CLIP-seq
MIRT1161198	hsa-miR-548s	CLIP-seq
MIRT1161200	hsa-miR-552	CLIP-seq
MIRT1161201	hsa-miR-588	CLIP-seq
MIRT2275385	hsa-miR-93	CLIP-seq
MIRT1161164	hsa-miR-122	CLIP-seq
MIRT1161166	hsa-miR-1267	CLIP-seq
MIRT1161168	hsa-miR-1289	CLIP-seq
MIRT2275363	hsa-miR-150	CLIP-seq
MIRT1161171	hsa-miR-3135b	CLIP-seq
MIRT1161174	hsa-miR-3194-3p	CLIP-seq
MIRT1161175	hsa-miR-3198	CLIP-seq
MIRT1161176	hsa-miR-3200-3p	CLIP-seq
MIRT1161177	hsa-miR-320e	CLIP-seq
MIRT1161181	hsa-miR-4294	CLIP-seq
MIRT1161182	hsa-miR-4309	CLIP-seq
MIRT1161183	hsa-miR-431	CLIP-seq
MIRT2046263	hsa-miR-4317	CLIP-seq
MIRT1161184	hsa-miR-4423-5p	CLIP-seq
MIRT2275380	hsa-miR-4757-5p	CLIP-seq
MIRT1161204	hsa-miR-924	CLIP-seq
MIRT2275360	hsa-miR-106a	CLIP-seq
MIRT2275361	hsa-miR-106b	CLIP-seq
MIRT2046257	hsa-miR-1281	CLIP-seq
MIRT2275363	hsa-miR-150	CLIP-seq
MIRT2275364	hsa-miR-17	CLIP-seq
MIRT2046258	hsa-miR-1915	CLIP-seq
MIRT2046259	hsa-miR-1976	CLIP-seq
MIRT2275365	hsa-miR-20a	CLIP-seq
MIRT2275366	hsa-miR-20b	CLIP-seq
MIRT2275367	hsa-miR-302a	CLIP-seq
MIRT2275368	hsa-miR-302b	CLIP-seq
MIRT2275369	hsa-miR-302c	CLIP-seq
MIRT2275370	hsa-miR-302d	CLIP-seq
MIRT2046260	hsa-miR-3199	CLIP-seq
MIRT1161176	hsa-miR-3200-3p	CLIP-seq
MIRT2046261	hsa-miR-335	CLIP-seq
MIRT2275371	hsa-miR-372	CLIP-seq
MIRT2275372	hsa-miR-373	CLIP-seq
MIRT1161180	hsa-miR-3934	CLIP-seq
MIRT2046262	hsa-miR-4279	CLIP-seq
MIRT2046264	hsa-miR-4722-3p	CLIP-seq
MIRT2046265	hsa-miR-4726-3p	CLIP-seq
MIRT2275379	hsa-miR-4731-5p	CLIP-seq
MIRT2275380	hsa-miR-4757-5p	CLIP-seq
MIRT2275382	hsa-miR-512-3p	CLIP-seq
MIRT2275383	hsa-miR-519d	CLIP-seq
MIRT2275384	hsa-miR-520g	CLIP-seq
MIRT1161200	hsa-miR-552	CLIP-seq
MIRT2275385	hsa-miR-93	CLIP-seq
MIRT1161205	hsa-miR-933	CLIP-seq
MIRT2046257	hsa-miR-1281	CLIP-seq
MIRT2046258	hsa-miR-1915	CLIP-seq
MIRT2046259	hsa-miR-1976	CLIP-seq
MIRT2046261	hsa-miR-335	CLIP-seq
MIRT2046262	hsa-miR-4279	CLIP-seq
MIRT2046264	hsa-miR-4722-3p	CLIP-seq
MIRT2046265	hsa-miR-4726-3p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0003677	Function	DNA binding	IEA
GO:0003690	Function	Double-stranded DNA binding	IBA
GO:0003697	Function	Single-stranded DNA binding	IDA	11809883
GO:0005515	Function	Protein binding	IPI	8942985, 9774676, 11005803, 14657349, 16025128, 19377479, 22179786, 25416956, 29892012, 31515488, 32296183, 33961781, 34591612
GO:0005524	Function	ATP binding	IEA
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IDA	26300262
GO:0005654	Component	Nucleoplasm	TAS
GO:0006281	Process	DNA repair	IDA	8942985
GO:0006281	Process	DNA repair	IEA
GO:0006298	Process	Mismatch repair	IBA
GO:0006298	Process	Mismatch repair	IDA	9677427, 17715146
GO:0006298	Process	Mismatch repair	IEA
GO:0006298	Process	Mismatch repair	IMP	8782829
GO:0006312	Process	Mitotic recombination	IBA
GO:0006974	Process	DNA damage response	IEA
GO:0016020	Component	Membrane	HDA	19946888
GO:0016447	Process	Somatic recombination of immunoglobulin gene segments	IBA
GO:0019899	Function	Enzyme binding	IPI	11427529, 26300262
GO:0030983	Function	Mismatched DNA binding	IDA	8942985
GO:0030983	Function	Mismatched DNA binding	IEA
GO:0032137	Function	Guanine/thymine mispair binding	IDA	11809883
GO:0032139	Function	Dinucleotide insertion or deletion binding	IDA	8942985
GO:0032142	Function	Single guanine insertion binding	IDA	8942985
GO:0032181	Function	Dinucleotide repeat insertion binding	IDA	8942985
GO:0032302	Component	MutSbeta complex	IDA	8942985
GO:0032302	Component	MutSbeta complex	IPI	22179786
GO:0032357	Function	Oxidized purine DNA binding	IDA	11756455
GO:0042803	Function	Protein homodimerization activity	IDA	8942985
GO:0043570	Process	Maintenance of DNA repeat elements	IMP	16388310
GO:0045910	Process	Negative regulation of DNA recombination	IDA	17715146
GO:0140664	Function	ATP-dependent DNA damage sensor activity	IEA

Other IDs

• MIM: 600887
• HGNC: 7326
• e!Ensembl: ENSG00000113318

Protein

• UniProt ID: P20585
• Protein name: DNA mismatch repair protein Msh3 (hMSH3) (Divergent upstream protein) (DUP) (Mismatch repair protein 1) (MRP1)
• Protein function: Component of the post-replicative DNA mismatch repair system (MMR). Heterodimerizes with MSH2 to form MutS beta which binds to DNA mismatches thereby initiating DNA repair. When bound, the MutS beta heterodimer bends the DNA helix and shields ap
• PDB: 3THW, 3THX, 3THY, 3THZ, 8OLX, 8OM5, 8OM9, 8OMA, 8OMO, 8OMQ, 8R7C, 8R7E, 8R7V, 8RZ7, 8RZ8, 8RZ9
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF01624	MutS_I	230 → 343	MutS domain I	Domain
  PF05188	MutS_II	366 → 523	MutS domain II	Domain
  PF05192	MutS_III	540 → 838	MutS domain III	Domain
  PF00488	MutS_V	892 → 1094	MutS domain V	Domain

• Sequence:

  MSRRKPASGGLAASSSAPARQAVLSRFFQSTGSLKSTSSSTGAADQVDPGAAAAAAAAAA
  AAPPAPPAPAFPPQLPPHIATEIDRRKKRPLENDGPVKKKVKKVQQKEGGSDLGMSGNSE
  PKKCLRTRNVSKSLEKLKEFCCDSALPQSRVQTESLQERFAVLPKCTDFDDISLLHAKNA
  VSSEDSKRQINQKDTTLFDLSQFGSSNTSHENLQKTASKSANKRSKSIYTPLELQYIEMK
  QQHKDAVLCVECGYKYRFFGEDAEIAARELNIYCHLDHNFMTASIPTHRLFVHVRRLVAK
  GYKVGVVKQTETAALKAIGDNRSSLFSRKLTALYTKSTLIGEDVNPLIKLDDAVNVDEIM
  TDTSTSYLLCISENKENVRDKKKGNIFIGIVGVQPATGEVVFDSFQDSASRSELETRMSS
  LQPVELLLPSALSEQTEALIHRATSVSVQDDRIRVERMDNIYFEYSHAFQAVTEFYAKDT
  VDIKGSQIISGIVNLEKPVICSLAAIIKYLKEFNLEKMLSKPENFKQLSSKMEFMTINGT
  TLRNLEILQNQTDMKTKGSLLWVLDHTKTSFGRRKLKKWVTQPLLKLREINARLDAVSEV
  LHSESSVFGQIENHLRKLPDIERGLCSIYHKKCSTQEFFLIVKTLYHLKSEFQAIIPAVN
  SHIQSDLLRTVILEIPELLSPVEHYLKILNEQAAKVGDKTELFKDLSDFPLIKKRKDEIQ
  GVIDEIRMHLQEIRKILKNPSAQYVTVSGQEFMIEIKNSAVSCIPTDWVKVGSTKAVSRF
  HSPFIVENYRHLNQLREQLVLDCSAEWLDFLEKFSEHYHSLCKAVHHLATVDCIFSLAKV
  AKQGDYCRPTVQEERKIVIKNGRHPVIDVLLGEQDQYVPNNTDLSEDSERVMIITGPNMG
  GKSSYIKQVALITIMAQIGSYVPAEEATIGIVDGIFTRMGAADNIYKGQSTFMEELTDTA
  EIIRKATSQSLVILDELGRGTSTHDGIAIAYATLEYFIRDVKSLTLFVTHYPPVCELEKN
  YSHQVGNYHMGFLVSEDESKLDPGAAEQVPDFVTFLYQITRGIAARSYGLNVAKLADVPG
  EILKKAAHKSKELEGLINTKRKRLKYFAKLWTMHNAQDLQKWTEEFNMEETQTSLLH

• Sequence length: 1137

Pathways

KEGG:

Platinum drug resistance
Mismatch repair
Pathways in cancer
Colorectal cancer

Reactome:

Mismatch repair (MMR) directed by MSH2:MSH3 (MutSbeta)
Defective Mismatch Repair Associated With MSH3
Defective Mismatch Repair Associated With MSH2

Associated diseases

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)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Endometrial carcinoma	Likely pathogenic; Pathogenic	rs770190473, rs779180469, rs752795642, rs777843647, rs772046189, rs2112816043, rs139170496, rs1398195482, rs1395288001, rs1360794165, rs1260807695, rs1416092389, rs2112026812, rs767188723, rs2112866803, rs2112797412, rs1743016889, rs1330593620, rs2112809006, rs2112814387, rs766122076, rs2112868963, rs2546721227, rs2546721087, rs1749220884, rs2112798504, rs751800062, rs2546774163, rs2546723000, rs2546770028, rs2112808747, rs2546721122, rs587776701, rs751326348, rs866260675, rs768996067, rs2546710663, rs879006486, rs2546722391, rs1580027713, rs2546754685, rs2546709980, rs2546709763, rs2478789037, rs2546760509, rs1453372448, rs2546754680, rs745553087, rs2546784289, rs2546726675, rs773094831, rs2112797887, rs2478805411, rs2546726522, rs2546712108, rs2546784343, rs2112819171, rs752664887, rs1580538168, rs149350323, rs374133543, rs771721952, rs201033017, rs763478027, rs1475633334, rs1580553624, rs1580553669, rs578113271, rs757194485, rs539295465, rs778610412, rs758191157, rs1580597397, rs1580033751, rs751236312, rs376667075, rs1561486630, rs1561486632, rs777054839, rs1204002507, rs766672143, rs1580091499, rs1450314617, rs367544716, rs1488467945, rs1580053768, rs1580553607, rs1580540688, rs1259647122, rs1580546793, rs1234762807, rs1580556516, rs756190979, rs371356175, rs766997264, rs1743353294, rs1379605717, rs770330684, rs1462955256, rs1744356274, rs1480047980, rs1744149615, rs1749219575, rs1749286503, rs963234468, rs748016039, rs1749186228, rs1749285930, rs886037878, rs1749288232, rs775863622, rs1743355453, rs750876165	RCV003469691 RCV003463026 RCV003469686 RCV003462994 RCV003469652 RCV003463024 RCV003463012 RCV003462999 RCV003469704 RCV003462974 RCV004570973 RCV003462997 RCV004570943 RCV003462969 RCV003471151 RCV003464235 RCV003470997 RCV003471219 RCV003464382 RCV005040463 RCV003471041 RCV003464416 RCV005032230 RCV004572326 RCV003464551 RCV004572463 RCV003464552 RCV003465841 RCV003464616 RCV003465877 RCV003459696 RCV003465895 RCV003459709 RCV000240050 RCV003463709 RCV003463710 RCV003459865 RCV003470228 RCV003461914 RCV003461915 RCV003461917 RCV003459866 RCV003461923 RCV003461924 RCV003461925 RCV003461926 RCV003466081 RCV003470238 RCV003470239 RCV003461927 RCV003466084 RCV003470240 RCV003461928 RCV003470241 RCV003461929 RCV003470243 RCV003470244 RCV003461930 RCV004574031 RCV003467397 RCV003461178 RCV003467363 RCV003467361 RCV003461177 RCV003461098 RCV003461226 RCV003461121 RCV003461099 RCV003461097 RCV003461080 RCV003467355 RCV003461101 RCV003467480 RCV003461283 RCV003467449 RCV003461075 RCV003461151 RCV003461246 RCV003461152 RCV003461140 RCV003461079 RCV003461119 RCV003467489 RCV003461163 RCV003461236 RCV003467414 RCV003461264 RCV003461219 RCV003467488 RCV003461303 RCV003461362 RCV003467648 RCV003467682 RCV003467635 RCV003461317 RCV003462622 RCV003461442 RCV003461461 RCV003462548 RCV003461452 RCV003462624 RCV003462621 RCV003461439 RCV003467773 RCV003461454 RCV003462729 RCV003462759 RCV003462725 RCV003469380 RCV003462705 RCV003462710 RCV003469329 RCV003469429 RCV003462771 RCV003469450 RCV004570559	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Familial adenomatous polyposis 4	Likely pathogenic; Pathogenic	rs2112054627, rs2112118327, rs770190473, rs752795642, rs777843647, rs1481996174, rs772046189, rs1272356369, rs2112813769, rs139170496, rs1398195482, rs2112866746, rs1395288001, rs750104015, rs1360794165, rs1260807695, rs1328242717, rs1744168201, rs1416092389, rs2112007877, rs2112007993, rs2112026812, rs2112054380, rs767188723, rs2112118578, rs1744152835, rs2112866803, rs1743016889, rs1330593620, rs2112809006, rs2112866857, rs2112808731, rs2112128589, rs2112885348, rs2112884587, rs2112026860, rs2112106551, rs2112054145, rs2112868948, rs2112814387, rs866260675, rs1350652736, rs2112868963, rs1371600437, rs2546721227, rs2546712302, rs2112812135, rs2546721087, rs2546726592, rs1448385261, rs777360391, rs1580589463, rs1452382399, rs2546797450, rs2478771380, rs2478771388, rs2478789202, rs2478771460, rs2478771486, rs2478772049, rs2546774337, rs1391355304, rs944680882, rs965659126, rs2112880076, rs1743352460, rs2478789143, rs1561486632, rs1220944647, rs2546770108, rs2546723000, rs766156923, rs1457778017, rs2112808747, rs2546786853, rs587776701, rs2478771447, rs2478771709, rs2546722393, rs1419188316, rs886037878, rs751326348, rs1174006665, rs2546779597, rs759128700, rs2546786711, rs2546774313, rs2546774170, rs768996067, rs2546754685, rs1453372448, rs2546726675, rs2112819171, rs1580053768, rs2112106713, rs2112857805, rs1376348767, rs2546774346, rs2112801912, rs2546724446, rs2546760511, rs2478772075, rs1749540054, rs1283575037, rs2112885230, rs773879116, rs1330791390, rs887040509, rs2112819157, rs2546777872, rs764435977, rs2546709825, rs1744532481, rs2546774332, rs751236312, rs2546717431, rs2546754646, rs752664887, rs2546752955, rs2546754698, rs2546752993, rs973992111, rs2546774227, rs2546760498, rs2478771441, rs750366331, rs2546717479, rs2546786756, rs2478804790, rs2546770059, rs2546726545, rs2546786707, rs2546709951, rs2546722848, rs2546722368, rs772683764, rs2546712283, rs2478771943, rs2546753058, rs2546779627, rs2546722418, rs2546754598, rs2546779623, rs1744286516, rs2546760478, rs2546717409, rs2546797436, rs2546722995, rs2546717500, rs1362962336, rs2478789116, rs2546712234, rs2546773676, rs2478789267, rs2546774176, rs976940687, rs2546709935, rs2546726670, rs2546773723, rs2546774207, rs2478805082, rs2546773567, rs2546721164, rs2546779547, rs1743680168, rs2546770092, rs2546722440, rs2546726612, rs2546709890, rs2478804953, rs771439854, rs2478804926, rs2546722471, rs2546760401, rs2546774188, rs2546722970, rs2546770130, rs760629540, rs149350323, rs1580546655, rs374133543, rs771721952, rs756632960, rs201033017, rs763478027, rs1475633334, rs1580553624, rs1580553669, rs578113271, rs757194485, rs539295465, rs778610412, rs758191157, rs1580597397, rs1580033751, rs1455445683, rs376667075, rs1580035033, rs1561486630, rs777054839, rs1204002507, rs766672143, rs1580066605, rs1580091499, rs1580091512, rs1450314617, rs1580027713, rs367544716, rs1580035037, rs1580553607, rs1580540688, rs1580546793, rs952650934, rs1234762807, rs1580556516, rs1580589397, rs1580027407, rs1580045730, rs756190979, rs371356175, rs766997264, rs1749751715, rs772520703, rs1743353294, rs1379605717, rs776738086, rs770330684, rs1462955256, rs1744356274, rs1744356530, rs1480047980, rs1744149615, rs550626088, rs1749286503, rs1749288569, rs1749674216, rs1749906415, rs963234468, rs748016039, rs1749186228, rs1580053760, rs1749285930, rs1749285874, rs1197719947, rs1749288232, rs775863622, rs1745878088, rs1743355453, rs750876165, rs773032453	RCV003458675 RCV003458677 RCV003458684 RCV003458683 RCV003458685 RCV003458689 RCV003458678 RCV003458690 RCV003458694 RCV003458692 RCV003458688 RCV003458693 RCV003458686 RCV003458697 RCV003458680 RCV003458698 RCV003458700 RCV003458695 RCV003458687 RCV003458696 RCV003458681 RCV003458682 RCV003458699 RCV003458679 RCV003336492 RCV003458790 RCV003458800 RCV003458785 RCV003458809 RCV003458816 RCV003458803 RCV005428436 RCV003458793 RCV003458811 RCV003138034 RCV005247311 RCV004044378 RCV003458802 RCV003458801 RCV005040463 RCV003458804 RCV003458791 RCV003458853 RCV003458856 RCV002288387 RCV003458857 RCV003458858 RCV003458859 RCV005248653 RCV003458863 RCV005424907 RCV003458861 RCV003458862 RCV003458864 RCV003458866 RCV003458867 RCV005621208 RCV003316874 RCV003458868 RCV003336749 RCV003458869 RCV003458894 RCV003458895 RCV003458896 RCV003458901 RCV003458899 RCV003458909 RCV004790231 RCV003458880 RCV003458882 RCV003316876 RCV003458883 RCV003458888 RCV003458889 RCV003316880 RCV003458891 RCV000009277 RCV003140348 RCV003140372 RCV003140376 RCV003458912 RCV000240222 RCV000240520 RCV000240037 RCV003458920 RCV003316926 RCV003334480 RCV003334724 RCV003334729 RCV003334774 RCV003459056 RCV003459123 RCV003459073 RCV003459139 RCV004364784 RCV003459052 RCV003459053 RCV003459054 RCV003459057 RCV003459058 RCV003459059 RCV003459060 RCV003459061 RCV003459062 RCV003459063 RCV003459064 RCV003459065 RCV003459066 RCV003459067 RCV003459068 RCV003459069 RCV003459070 RCV003459071 RCV003459072 RCV003459074 RCV003459075 RCV003459076 RCV003459077 RCV003459078 RCV003459079 RCV003459080 RCV003459081 RCV003459082 RCV003459083 RCV003459084 RCV003459085 RCV003459086 RCV003459087 RCV003459088 RCV003459089 RCV003459090 RCV003459091 RCV003459093 RCV003459094 RCV003459095 RCV003459096 RCV003459097 RCV003459098 RCV003459099 RCV003459100 RCV003459101 RCV003459102 RCV003459103 RCV003459104 RCV003459105 RCV003459106 RCV003459107 RCV003459108 RCV003459109 RCV003459110 RCV003459111 RCV003459112 RCV003459113 RCV003459114 RCV003459115 RCV003459116 RCV003459117 RCV003459118 RCV003459119 RCV003459120 RCV003459121 RCV003459122 RCV003459124 RCV003459125 RCV003459126 RCV003459127 RCV003459128 RCV003459129 RCV003459130 RCV003459131 RCV003459132 RCV003459133 RCV003459134 RCV003459135 RCV003459136 RCV005871252 RCV004442545 RCV004442553 RCV004442581 RCV004442605 RCV004442622 RCV004589221 RCV004589320 RCV004589321 RCV003458538 RCV005249078 RCV003458525 RCV003458521 RCV005427309 RCV003458537 RCV003458524 RCV003458544 RCV003336194 RCV003458526 RCV003458523 RCV003458519 RCV003458520 RCV002290440 RCV003458546 RCV003458550 RCV003458540 RCV003458517 RCV003458522 RCV003458534 RCV003458547 RCV003458529 RCV003316811 RCV003458530 RCV003458518 RCV003458528 RCV003458548 RCV003458551 RCV003458535 RCV003458543 RCV003458545 RCV003336199 RCV003458549 RCV004588261 RCV003316814 RCV000987530 RCV003458585 RCV003458591 RCV003458592 RCV003458593 RCV003458590 RCV003458587 RCV003458588 RCV003316819 RCV003458589 RCV003458617 RCV003458596 RCV003458599 RCV003458600 RCV003458613 RCV003458604 RCV002254717 RCV003458603 RCV003458618 RCV005621072 RCV005866791 RCV003458594 RCV003458607 RCV005359820 RCV003458598 RCV003316828 RCV003458648 RCV003458647 RCV004792808 RCV004590247 RCV003458638 RCV003458645 RCV003458635 RCV003458636 RCV003458637 RCV003458632 RCV003458644 RCV003458641 RCV004590257 RCV003458649 RCV003458651 RCV003458652 RCV003458650 RCV003316834	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hereditary cancer-predisposing syndrome	Likely pathogenic; Pathogenic	rs2112054627, rs770190473, rs779180469, rs1285597974, rs752795642, rs777843647, rs2112812135, rs2112812231, rs1481996174, rs772046189, rs1272356369, rs2112813769, rs2112816043, rs139170496, rs1398195482, rs1395288001, rs1260807695, rs2112880076, rs1328242717, rs1744168201, rs2112885246, rs1416092389, rs2112007993, rs2112020385, rs767188723, rs1744152835, rs2112866803, rs2112106614, rs2112797412, rs1743016889, rs1330593620, rs2112809006, rs1204734473, rs2112866857, rs2112128589, rs2112885348, rs2112884587, rs2112054145, rs1749675730, rs1749541157, rs2112868948, rs2112801912, rs2112808726, rs1350652736, rs2112890103, rs2112868963, rs2112007724, rs1371600437, rs2112801785, rs2546724363, rs2546712302, rs71539689, rs2546724360, rs1580556391, rs2546710061, rs2546709883, rs2546721087, rs2546721199, rs2546722869, rs2546726592, rs2546721160, rs2546762027, rs1448385261, rs2546762095, rs777360391, rs1580589463, rs779700173, rs2546710109, rs1452382399, rs773032453, rs2546770085, rs2546777870, rs2546724290, rs2546773528, rs1749220884, rs1196929384, rs2112798504, rs2546774178, rs751800062, rs2546797450, rs2478770815, rs2478771380, rs2478771388, rs2112106462, rs1294556697, rs2478789202, rs2478771460, rs2478771486, rs2478771635, rs2478772044, rs2478772049, rs944680882, rs965659126, rs1743352460, rs2478789143, rs2546770048, rs2546786853, rs587776701, rs2546722393, rs2546769967, rs2546773761, rs2546724398, rs2546786762, rs2478771748, rs1419188316, rs2546773736, rs2546710148, rs751326348, rs866260675, rs2546779563, rs2546752982, rs2546726709, rs2112813757, rs1174006665, rs1749676068, rs2546754612, rs2546754685, rs2112106713, rs752664887, rs2546752993, rs2546774227, rs2546786756, rs772683764, rs2478789267, rs2546726670, rs2546721164, rs2478804953, rs2546712318, rs2546717440, rs2546726573, rs2546726604, rs2546752943, rs2546752975, rs2546774182, rs2546774248, rs2546774331, rs2478789216, rs2478804768, rs2546712297, rs2546721032, rs1580538168, rs149350323, rs1580546655, rs374133543, rs771721952, rs756632960, rs201033017, rs763478027, rs1475633334, rs1580553624, rs1580553669, rs578113271, rs757194485, rs539295465, rs778610412, rs758191157, rs1580597397, rs1580033751, rs1455445683, rs751236312, rs376667075, rs1580035033, rs1561486630, rs1561486632, rs777054839, rs1204002507, rs766672143, rs1580066605, rs1580091499, rs1580091512, rs1450314617, rs750876165, rs1580027713, rs367544716, rs1488467945, rs1580053768, rs1580091639, rs1580035037, rs1580553607, rs1580540688, rs1259647122, rs1580546793, rs952650934, rs1234762807, rs1580556516, rs1580589397, rs1580027407, rs1580045730, rs756190979, rs1749544783, rs371356175, rs766997264, rs1749751715, rs1743353294, rs1379605717, rs776738086, rs1744154635, rs770330684, rs1462955256, rs1480047980, rs1744149615, rs550626088, rs1749219575, rs1749286503, rs1749288569, rs1749674216, rs1749906415, rs963234468, rs748016039, rs1749186228, rs1749285930, rs886037878, rs1749285874, rs1197719947, rs1749288232, rs775863622, rs1745878088, rs1743355453, rs1744531551	RCV002438883 RCV002404898 RCV002384550 RCV005372690 RCV002447510 RCV004037664 RCV002357292 RCV004651632 RCV002377569 RCV003355449 RCV003169947 RCV002432074 RCV003284295 RCV002456603 RCV003298630 RCV004945108 RCV004651634 RCV005687280 RCV002420868 RCV005372692 RCV002432066 RCV002449076 RCV004639610 RCV005372691 RCV004037644 RCV005374876 RCV005374949 RCV003170171 RCV004043502 RCV005443439 RCV002407220 RCV002352732 RCV003170179 RCV002388934 RCV004641799 RCV005684869 RCV002423239 RCV002425325 RCV002388719 RCV005370077 RCV002407183 RCV002460168 RCV002370433 RCV002425231 RCV004044530 RCV002257300 RCV002258597 RCV005370183 RCV002324730 RCV002320941 RCV002457284 RCV002375658 RCV002320697 RCV002330437 RCV002355873 RCV002369212 RCV002359857 RCV002361514 RCV002380497 RCV002374210 RCV002364794 RCV002378258 RCV002403819 RCV002399280 RCV002401535 RCV002389648 RCV002405562 RCV002395046 RCV002396665 RCV002405990 RCV002401698 RCV002415117 RCV002446109 RCV002459686 RCV002408261 RCV002417887 RCV002457763 RCV002417425 RCV002417470 RCV002424258 RCV002425838 RCV002441429 RCV002441731 RCV002441737 RCV002441752 RCV002439750 RCV002444072 RCV002444252 RCV002435192 RCV002435207 RCV002437739 RCV002442290 RCV002442334 RCV003367986 RCV006411800 RCV006411808 RCV003167579 RCV004066135 RCV005362977 RCV001017472 RCV005445832 RCV003182063 RCV003182066 RCV003182069 RCV003182073 RCV003182074 RCV003182079 RCV003182084 RCV003182088 RCV003182095 RCV002256182 RCV001015164 RCV003310209 RCV003293229 RCV003301983 RCV003293230 RCV003293232 RCV003293236 RCV003301989 RCV003368181 RCV003377956 RCV004364743 RCV006411834 RCV004943032 RCV005445861 RCV006411835 RCV004364741 RCV004943034 RCV005445862 RCV004364742 RCV006411836 RCV004654223 RCV005445893 RCV004943172 RCV004513642 RCV004513644 RCV004513647 RCV004513649 RCV004513667 RCV004513668 RCV004513673 RCV004513697 RCV004513699 RCV004513711 RCV004513720 RCV002388498 RCV002325573 RCV002334487 RCV001024483 RCV002352334 RCV004028795 RCV001027086 RCV002370094 RCV001019740 RCV002388475 RCV002406756 RCV002458441 RCV002255519 RCV002386400 RCV001011178 RCV002390665 RCV002397732 RCV001012521 RCV002406730 RCV002422714 RCV002424865 RCV002427027 RCV005443157 RCV002453785 RCV003166216 RCV001016296 RCV002458454 RCV002434004 RCV003372887 RCV002440723 RCV002440772 RCV002255536 RCV006386986 RCV002406795 RCV002397715 RCV001014944 RCV002453871 RCV002440704 RCV001014807 RCV001017087 RCV001017729 RCV001018444 RCV001024380 RCV001025235 RCV001017172 RCV001010624 RCV001012008 RCV001013063 RCV001016268 RCV001015524 RCV002436691 RCV003363065 RCV002372759 RCV002416355 RCV004944800 RCV002393256 RCV002400237 RCV004944808 RCV002416414 RCV002429746 RCV003363050 RCV004944849 RCV002256666 RCV002409388 RCV005443234 RCV003163646 RCV002451518 RCV002436860 RCV004944891 RCV004032515 RCV002379812 RCV002451507 RCV002393476 RCV002255629 RCV002436783 RCV003163691 RCV002447099 RCV002436919 RCV002256711 RCV004649533 RCV004944939 RCV002430023 RCV002379868 RCV005372602	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Malignant tumor of urinary bladder	Likely pathogenic; Pathogenic	rs1197719947	RCV005909035	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
MSH3-related disorder	Pathogenic; Likely pathogenic	rs2112866857, rs587776701, rs2546773743, rs1580553669, rs751236312, rs777054839	RCV004731215 RCV003944809 RCV003966989 RCV003411754 RCV004731038 RCV004751705	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Neoplasm	Likely pathogenic; Pathogenic	rs2112866803, rs587776701	RCV006274284 RCV004668711	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Thyroid cancer, nonmedullary, 1	Likely pathogenic; Pathogenic	rs1330593620	RCV005925414	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
CENTRAL NERVOUS SYSTEM CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diffuse midline glioma, H3 K27-altered	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ENDOMETRIAL CANCER	—	HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ENDOMETRIAL NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Benign; Likely benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Conflicting classifications of pathogenicity; Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastrointestinal stromal tumor	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLIOBLASTOMA MULTIFORME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLIOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Conflicting classifications of pathogenicity; Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HUNTINGTON DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lymphoma	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LYNCH SYNDROME	—	ClinGen, Disgenet ClinGen, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Conflicting classifications of pathogenicity; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Conflicting classifications of pathogenicity; Likely benign; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATIC NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RHEUMATIC FEVER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Acute leukemia	Leukemia	BEFREE	18711657, 19065772, 22037714, 9690540		★☆☆☆☆ Found in Text Mining only
Acute lymphocytic leukemia	Lymphocytic Leukemia	BEFREE	11323101, 14510941, 17148505, 19065772, 22037714, 24145140, 30535484		★☆☆☆☆ Found in Text Mining only
Acute monocytic leukemia	Monocytic Leukemia	BEFREE	10214864, 10419897, 11986944, 19288261		★☆☆☆☆ Found in Text Mining only
Acute Promyelocytic Leukemia	Promyelocytic Leukemia	BEFREE	31032633		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma	Adenocarcinoma	BEFREE	10767362, 10861498, 11306499, 15070089, 15856298, 23378758, 30132569		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of colon	Adenocarcinoma Of Colon	BEFREE	12115804		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of large intestine	Colorectal Cancer	BEFREE	15070089, 30941955		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	CTD_human_DG	21327329		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma, Endometrioid	Endometrial Cancer	BEFREE	11505398, 15547740		★☆☆☆☆ Found in Text Mining only
Adenoma	Adenoma	BEFREE	11774239, 20708618		★☆☆☆☆ Found in Text Mining only
Adenomatous Polyposis Coli	Multiple polyposis syndrome	BEFREE	27476653, 28528517, 30862463, 30904095, 9764589		★☆☆☆☆ Found in Text Mining only
Adenomatous Polyposis Coli	Multiple polyposis syndrome	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Adult Acute Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	11323101, 22037714, 24145140, 30535484		★☆☆☆☆ Found in Text Mining only
Adult Acute Myeloblastic Leukemia	Myeloblastic Leukemia	BEFREE	10214864, 10419897, 11986944, 24030729		★☆☆☆☆ Found in Text Mining only
Adult Diffuse Large B-Cell Lymphoma	B-cell Lymphoma	BEFREE	24098683		★☆☆☆☆ Found in Text Mining only
Adult Medulloblastoma	Medulloblastoma	BEFREE	29869738		★☆☆☆☆ Found in Text Mining only
Adult T-Cell Lymphoma/Leukemia	T-Cell Lymphoma/Leukemia	BEFREE	10666234, 11595704, 15682421		★☆☆☆☆ Found in Text Mining only
ANOPHTHALMIA AND PULMONARY HYPOPLASIA	Syndromic microphthalmia	BEFREE	25890497, 26606261, 30532127		★☆☆☆☆ Found in Text Mining only
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	15547100	Associate	★☆☆☆☆ Found in Text Mining only
Astrocytoma	Astrocytoma	BEFREE	12125964, 18462887		★☆☆☆☆ Found in Text Mining only
Astrocytoma	Astrocytoma	Pubtator	27476653	Associate	★☆☆☆☆ Found in Text Mining only
Astrocytoma	Astrocytoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Attenuated familial adenomatous polyposis	Adenomatous polyposis	Pubtator	31285513, 34250384, 35675019	Associate	★☆☆☆☆ Found in Text Mining only
Azoospermia	Azoospermia	BEFREE	31342644		★☆☆☆☆ Found in Text Mining only
B-Cell Lymphomas	B-Cell Lymphoma	BEFREE	26376998, 28587395, 31819366		★☆☆☆☆ Found in Text Mining only
Basal cell carcinoma	Carcinoma	LHGDN	17950544		★☆☆☆☆ Found in Text Mining only
Bladder Neoplasm	Bladder Neoplasm	BEFREE	15541380, 27485374		★☆☆☆☆ Found in Text Mining only
Bladder Neoplasm	Bladder Neoplasm	LHGDN	15541380		★☆☆☆☆ Found in Text Mining only
Blast Phase	Blast phase chronic myelogenous leukemia	BEFREE	12406906		★☆☆☆☆ Found in Text Mining only
Brain Neoplasms	Brain Neoplasms	BEFREE	11223551, 12125964		★☆☆☆☆ Found in Text Mining only
Brain Neoplasms	Brain neoplasms	Pubtator	37423059	Associate	★☆☆☆☆ Found in Text Mining only
Breast Cancer, Familial	Breast Cancer	BEFREE	19781088		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	12115804, 12966509, 14607338, 15015586, 15113040, 15517899, 16047355, 16132579, 18202791, 18701435, 19235593, 19781088, 20708344, 21529984, 23396606, 23481629, 23852586, 26617824, 29028589, 29101532, 29475141, 30001527, 30197538, 30486550, 30570851, 30814489, 31739702, 7664290, 9736046		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	10098729, 15517899, 18701435, 19781088, 21700777, 25927356, 34250384, 39844241	Associate	★☆☆☆☆ Found in Text Mining only
Burkitt Lymphoma	Burkitt`s Lymphoma	BEFREE	22083453		★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	10934138, 34250384, 34843512	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	10361853, 11267970, 11774239, 12966509, 15548710, 15810950, 20708618, 20979647, 9401011, 9808525		★☆☆☆☆ Found in Text Mining only
Carcinoma Adenoid Cystic	Adenoid cystic carcinoma	Pubtator	35218645	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma of bladder	Bladder carcinoma	BEFREE	15541380, 27485374		★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	10728601, 11477564, 16170027, 17308116, 17494052, 17895794, 21455636, 27810353, 29035832, 29072615, 31302132, 8620488		★☆☆☆☆ Found in Text Mining only
Carcinoma Pancreatic Ductal	Pancreatic ductal carcinoma	Pubtator	30532127	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	37426643	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma, Basal Cell	Carcinoma	BEFREE	17950544		★☆☆☆☆ Found in Text Mining only
Carcinoma, Endometrioid	Endometrioid cancer	BEFREE	11505398		★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	12014680, 24024181, 31289467		★☆☆☆☆ Found in Text Mining only
Childhood Acute Lymphoblastic Leukemia	Lymphoblastic Leukemia	BEFREE	11323101, 17875533, 19969624, 22037714, 24145140, 30535484		★☆☆☆☆ Found in Text Mining only
Childhood Acute Myeloid Leukemia	Acute Myeloid Leukemia	BEFREE	11986944		★☆☆☆☆ Found in Text Mining only
Childhood Medulloblastoma	Medulloblastoma	BEFREE	29869738		★☆☆☆☆ Found in Text Mining only
Chordoma	Chordoma	BEFREE	21143841		★☆☆☆☆ Found in Text Mining only
Choriocarcinoma	Choriocarcinoma	BEFREE	12724138		★☆☆☆☆ Found in Text Mining only
Colitis Ulcerative	Ulcerative colitis	Pubtator	31789935	Inhibit	★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	10665647, 10944853, 11097346, 11245474, 11802216, 12625868, 15517878, 17205513, 21128252, 23636450, 24225025, 27889996		★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic neoplasm	Pubtator	20979647, 23724141, 36108931	Associate	★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic Neoplasms	BEFREE	24484585, 9331106		★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic neoplasm	Pubtator	24484585	Stimulate	★☆☆☆☆ Found in Text Mining only
Colorectal Adenomatous Polyposis Autosomal Recessive	Colorectal adenomatous polyposis	Pubtator	27476653	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal cancer, hereditary nonpolyposis, type 1	Colorectal Cancer	CLINGEN_DG	10706084, 21128252, 23228367, 27476653, 8805365, 8942985		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	10665647, 11302343, 12469183, 14871813, 17205513, 18922920, 20845481, 21128252, 22249440, 22343000, 22496206, 23209772, 23226332, 25996601, 26247575, 26617824, 28454422, 29375743, 30862463, 30904095, 30941955, 31504073, 31549400, 31677491, 9240418, 9485005		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	10665647, 12057899, 18922920, 20565851, 22343000, 23226332, 23724141, 25461668, 25996601, 26247575, 26510091, 27430658, 27696107, 31127692, 33636974, 34488871, 34843512, 35675019, 37737217, 37888748, 8805365, 8805366	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal Neoplasms	LHGDN	14871813, 17205513, 18922920		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal Neoplasms	BEFREE	20708618, 22110587		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	31789935	Inhibit	★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms Hereditary Nonpolyposis	Lynch syndrome	Pubtator	26247575, 29568967, 36833239	Associate	★☆☆☆☆ Found in Text Mining only
Congenital arteriovenous malformation	Congenital Arteriovenous Malformation	BEFREE	16193381		★☆☆☆☆ Found in Text Mining only
Cystic Fibrosis	Cystic Fibrosis	BEFREE	11358378, 12930913, 16464259		★☆☆☆☆ Found in Text Mining only
Degenerative polyarthritis	Arthritis	BEFREE	15547100		★☆☆☆☆ Found in Text Mining only
Dermatitis	Dermatitis	Pubtator	30590005	Associate	★☆☆☆☆ Found in Text Mining only
Dermoid cyst of ovary	Dermoid Cyst Of Ovary	HPO_DG			★☆☆☆☆ Found in Text Mining only
Desmoplastic Small Round Cell Tumor	Desmoplastic small round cell tumor	Pubtator	32393201	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	26908299		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	26908299		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	GWASCAT_DG	28736931		★☆☆☆☆ Found in Text Mining only
Diarrhea	Diarrhea	Pubtator	30590005	Associate	★☆☆☆☆ Found in Text Mining only
Diffuse Large B-Cell Lymphoma	Diffuse Lymphoma	BEFREE	24098683, 28339079		★☆☆☆☆ Found in Text Mining only
Endometrial Carcinoma	Endometrial carcinoma	BEFREE	11505398, 11753956, 12057899, 8782829		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Endometrial Carcinoma	Endometrial carcinoma	CLINVAR_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Endometrial Carcinoma	Endometrial carcinoma	HPO_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Endometrial Carcinoma	Endometrial carcinoma	CTD_human_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Endometrial Neoplasms	Endometrial neoplasm	Pubtator	9756907	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Endometrial Neoplasms	Endometrial Neoplasms	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Endometrioid carcinoma ovary	Ovarian endometrioid carcinoma	BEFREE	15547740		★☆☆☆☆ Found in Text Mining only
Ependymoma	Ependymoma	BEFREE	17429576		★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	BEFREE	16193381, 29762840		★☆☆☆☆ Found in Text Mining only
Esophageal carcinoma	Esophageal Carcinoma	BEFREE	24934723		★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophagus Neoplasm	BEFREE	24934723		★☆☆☆☆ Found in Text Mining only
Esophageal Squamous Cell Carcinoma	Esophageal squamous cell carcinoma	Pubtator	26857264	Associate	★☆☆☆☆ Found in Text Mining only
FAMILIAL ADENOMATOUS POLYPOSIS 4	Adenomatous Polyposis	CLINGEN_DG	10706084, 27476653		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
FAMILIAL ADENOMATOUS POLYPOSIS 4	Adenomatous Polyposis	ORPHANET_DG	27476653		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
FAMILIAL ADENOMATOUS POLYPOSIS 4	Adenomatous Polyposis	CLINVAR_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Familial Intestinal Polyposis	Multiple polyposis syndrome	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Fanconi Anemia	Fanconi Anemia	BEFREE	21975120		★☆☆☆☆ Found in Text Mining only
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)	Anemia	BEFREE	21975120		★☆☆☆☆ Found in Text Mining only
Fibrosis, Liver	Liver Fibrosis	BEFREE	28098912		★☆☆☆☆ Found in Text Mining only
Fleck corneal dystrophy	Fleck Corneal Dystrophy	BEFREE	28273590		★☆☆☆☆ Found in Text Mining only
Gallbladder Carcinoma	Gallbladder cancer	BEFREE	26852750		★☆☆☆☆ Found in Text Mining only
Gastric Adenocarcinoma	Gastric Cancer	BEFREE	31669256		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	11857404, 12125964, 12958161, 18462887, 19019175, 20388502, 21544552, 26224160, 28849227, 29653579, 30208561		★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	11857404, 12958161, 18462887, 19019175, 20388502, 21544552, 22833450, 26224160, 28849227, 29653579, 30208561		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glioma	Glioma	BEFREE	16193381, 24815474, 27662839, 31129471, 31190861		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hamartomatous polyposis	Hamartomatous polyposis	BEFREE	20845481, 30904095		★☆☆☆☆ Found in Text Mining only
Hematologic Diseases	Hematologic disease	Pubtator	28093084	Associate	★☆☆☆☆ Found in Text Mining only
Hematologic Neoplasms	Hematologic Neoplasms	BEFREE	7669036		★☆☆☆☆ Found in Text Mining only
Hereditary Breast and Ovarian Cancer Syndrome	Hereditary breast and ovarian cancer syndrome	Pubtator	10098729	Associate	★☆☆☆☆ Found in Text Mining only
Hereditary Breast and Ovarian Cancer Syndrome	Hereditary Breast And Ovarian Cancer Syndrome	BEFREE	10954253		★☆☆☆☆ Found in Text Mining only
Hereditary hemochromatosis	Hereditary Hemochromatosis	BEFREE	23744354		★☆☆☆☆ Found in Text Mining only
Hereditary Non-Polyposis Colon Cancer Type 2	Colorectal Cancer	CLINGEN_DG	10706084, 21128252, 23228367, 27476653, 8805365, 8942985		★☆☆☆☆ Found in Text Mining only
Hereditary non-polyposis colorectal cancer syndrome	Hereditary nonpolyposis colorectal cancer	CLINGEN_DG	10706084, 21128252, 23228367, 27476653, 8805365, 8942985		★☆☆☆☆ Found in Text Mining only
Hereditary Nonpolyposis Colorectal Cancer	Colorectal Cancer	CLINGEN_DG	10706084, 21128252, 23228367, 27476653, 8805365, 8942985		★☆☆☆☆ Found in Text Mining only
Hereditary Nonpolyposis Colorectal Cancer	Colorectal Cancer	BEFREE	21128252, 26247575, 28528517, 29568967, 9024626, 9240418, 9307272, 9774676, 9929971		★☆☆☆☆ Found in Text Mining only
Hereditary Nonpolyposis Colorectal Neoplasms	Colorectal Neoplasms	CLINGEN_DG	10706084, 21128252, 23228367, 27476653, 8805365, 8942985		★☆☆☆☆ Found in Text Mining only
Huntington Disease	Huntington Disease	BEFREE	21566259, 23468640, 28642124, 31216018		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Huntington Disease	Huntington disease	Pubtator	34050153	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hyperparathyroidism	Hyperparathyroidism	BEFREE	28806349		★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	22343000, 26752111	Inhibit	★☆☆☆☆ Found in Text Mining only
Intestinal Polyposis	Intestinal polyposis	Pubtator	29367705, 34250384	Associate	★☆☆☆☆ Found in Text Mining only
Isodicentric Chromosome 15 Syndrome	Isodicentric Chromosome 15 Syndrome	BEFREE	31014393		★☆☆☆☆ Found in Text Mining only
Juvenile gastrointestinal polyposis	Gastrointestinal Polyposis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Kernicterus	Kernicterus	BEFREE	18713069		★☆☆☆☆ Found in Text Mining only
Laryngeal Squamous Cell Carcinoma	Laryngeal Carcinoma	BEFREE	23886139		★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	BEFREE	10500791, 15868938, 17350479, 21566063, 22901208, 27035504		★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	10214864, 10419897, 10419902, 10500793, 10828037, 11355932, 11986944, 12153153, 14754604, 15667534, 15739024, 16281935, 17072745, 19065772, 19288261, 22037714, 24030729, 28805931		★☆☆☆☆ Found in Text Mining only
Leukemia, T-Cell	T-cell leukemia	BEFREE	10666234, 11595704, 15682421		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	12428063, 20437864, 21182225, 24232099, 27081035, 28417539		★☆☆☆☆ Found in Text Mining only
Liver Failure	Liver failure	Pubtator	35675019	Associate	★☆☆☆☆ Found in Text Mining only
Lubs X-linked mental retardation syndrome	Syndromic Mental Retardation, X-linked	BEFREE	25749076		★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	BEFREE	11595704		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lynch Syndrome	Lynch Syndrome	BEFREE	21128252, 26247575, 28528517, 29568967		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Major Depressive Disorder	Mental Depression	BEFREE	20520284		★☆☆☆☆ Found in Text Mining only
Malignant Childhood Neoplasm	Malignant Neoplasm	BEFREE	14737110		★☆☆☆☆ Found in Text Mining only
Malignant Glioma	Glioma	BEFREE	11223551		★☆☆☆☆ Found in Text Mining only
Malignant mesothelioma	Malignant Mesothelioma	BEFREE	11697834		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	12966509, 14607338, 15015586, 15113040, 15517899, 16132579, 17993230, 18202791, 18701435, 19235593, 19781088, 20708344, 21529984, 23396606, 23481629, 23852586, 26617824, 29028589, 29101532, 29475141, 30001527, 30197538, 30486550, 30570851, 30814489, 31739702, 7664290, 9736046		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of endometrium	Endometrial Cancer	BEFREE	11505398, 8782829		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of esophagus	Esophagus Neoplasm	BEFREE	10376985, 24934723, 26617824		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of gallbladder	Gallbladder cancer	BEFREE	23229154, 26852750		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of gastrointestinal tract	Malignant gastrointestinal tract tumors	BEFREE	11470537		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	10190568, 10728601, 11477564, 16170027, 17308116, 17494052, 21455636, 25850996, 27810353, 29035832, 29072615, 31302132, 8620488, 9552043		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	12014680, 31289467		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	10792001, 18355840, 21480311, 23464402		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	CTD_human_DG	18355840		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of skin	Skin cancer	BEFREE	15999103		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	15756676, 17944563, 24515389, 31145962, 9808525		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	HPO_DG			★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of urinary bladder	Urinary bladder cancer	BEFREE	15541380, 27485374		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	10954253, 11097346, 11920626, 15379935, 15999103, 17308116, 17350479, 17593626, 18085475, 21566063, 21740521, 21981718, 22353810, 22623965, 22787155, 23209772, 24556366, 24934723, 26261488, 26617824, 27832326, 28050891, 28892075, 29022498, 29063196, 29809286, 30132569, 30483395, 31302132, 31401398, 9510473		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	CGI_DG			★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	10665647, 10944853, 11097346, 11245474, 11802216, 15517878, 17205513, 20844976, 21128252, 23636450, 24225025, 27889996		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	HPO_DG			★☆☆☆☆ Found in Text Mining only
Medulloblastoma	Medulloblastoma	BEFREE	17429576, 29869738		★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	15999103, 9506534		★☆☆☆☆ Found in Text Mining only
Meningioma	Meningioma	BEFREE	26315299		★☆☆☆☆ Found in Text Mining only
Mesothelioma	Mesothelioma	BEFREE	11697834		★☆☆☆☆ Found in Text Mining only
Mesothelioma	Mesothelioma	Pubtator	31887429	Associate	★☆☆☆☆ Found in Text Mining only
MSH3-related attenuated familial adenomatous polyposis	Adenomatous Polyposis	Orphanet			★☆☆☆☆ Found in Text Mining only
Mucoepidermoid Carcinoma	Mucoepidermoid Carcinoma	BEFREE	21903448, 24013781		★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	BEFREE	10809991, 15739024, 22445357, 28339079		★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	Pubtator	30809292	Associate	★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple sclerosis	Pubtator	28892075	Associate	★☆☆☆☆ Found in Text Mining only
MYELODYSPLASTIC SYNDROME	Myelodysplastic Syndrome	BEFREE	23339595		★☆☆☆☆ Found in Text Mining only
Myelodysplastic Syndromes	Myelodysplastic syndrome	Pubtator	23339595	Associate	★☆☆☆☆ Found in Text Mining only
Myeloid Leukemia, Chronic	Myeloid Leukemia	BEFREE	12406906, 27035504, 28587395		★☆☆☆☆ Found in Text Mining only
Myotonic Dystrophy	Myotonic dystrophy	BEFREE	26994442, 31216018		★☆☆☆☆ Found in Text Mining only
MYOTONIC DYSTROPHY 1	Myotonic dystrophy	BEFREE	26994442		★☆☆☆☆ Found in Text Mining only
Nasopharyngeal carcinoma	Nasopharyngeal Carcinoma	BEFREE	28656302		★☆☆☆☆ Found in Text Mining only
Nasopharyngeal Carcinoma	Nasopharyngeal carcinoma	Pubtator	28656302	Associate	★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	10469448, 10665647, 10706084, 10717241, 10719374, 10820351, 10918391, 10934138, 10964688, 11439366, 11470537, 11720446, 11979558, 12114401, 12149303, 12966509, 14522894, 14737110, 14871813, 15170671, 15269137, 15352042, 15472893, 15517899, 15547740, 15810950, 17895794, 19019175, 19067123, 19900859, 22110587, 22249440, 23226332, 23229154, 24024181, 24484585, 24556366, 24934723, 26768616, 27476653, 27692344, 27721020, 28138030, 28224663, 28499449, 28656302, 29375743, 29416753, 29653579, 29869738, 29928376, 30061938, 31582515, 7479796, 9240418, 9349506, 9485005, 9736046, 9761121, 9764589, 9855004		★☆☆☆☆ Found in Text Mining only
Neoplasms, Intracranial	Intracranial Neoplasm	BEFREE	20406235		★☆☆☆☆ Found in Text Mining only
Neoplastic Syndromes, Hereditary	Hereditary Cancer Syndrome	BEFREE	27476653		★☆☆☆☆ Found in Text Mining only
Nephroblastoma	Nephroblastoma	BEFREE	11445853		★☆☆☆☆ Found in Text Mining only
NEPHROLITHIASIS, CALCIUM OXALATE	Nephronophthisis	BEFREE	28577929		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	11172599, 11720446, 14737110, 16575006, 18713069, 26653549		★☆☆☆☆ Found in Text Mining only
Neuroectodermal Tumors	Neuroectodermal Tumors	BEFREE	12125964		★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	11577755, 15472893, 15856298, 17593626, 19875192, 19900859, 21981718, 22782455, 25966119, 28762597, 30132569, 30486290, 31169018, 8521390, 9650548		★☆☆☆☆ Found in Text Mining only
Nonorganic psychosis	Nonorganic Psychosis	BEFREE	28601717, 29971958		★☆☆☆☆ Found in Text Mining only
Nystagmus Pathologic	Nystagmus	Pubtator	32157568	Associate	★☆☆☆☆ Found in Text Mining only
Osteoarthritis	Osteoarthritis	Pubtator	15547100	Associate	★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	BEFREE	16049968, 17045162		★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	Pubtator	36271359	Associate	★☆☆☆☆ Found in Text Mining only
Ovarian adenocarcinoma	Ovarian adenocarcinoma	BEFREE	12473588		★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	BEFREE	12014680, 15269137, 31289467		★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	LHGDN	12014680		★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	16080527, 18723338	Associate	★☆☆☆☆ Found in Text Mining only
Pancreatic Diseases	Pancreatic Diseases	BEFREE	14707729		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	21212431, 37024097	Associate	★☆☆☆☆ Found in Text Mining only
Papillary thyroid carcinoma	Papillary thyroid carcinoma	BEFREE	28411177		★☆☆☆☆ Found in Text Mining only
Papilloma	Papilloma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Pelizaeus-Merzbacher Disease	Pelizaeus-Merzbacher disease	BEFREE	25749076		★☆☆☆☆ Found in Text Mining only
Pheochromocytoma	Pheochromocytoma	Pubtator	40235160	Associate	★☆☆☆☆ Found in Text Mining only
Polycythemia Vera	Polycythemia vera	Pubtator	37024097	Associate	★☆☆☆☆ Found in Text Mining only
Polyp of large intestine	Polyp Of Large Intestine	HPO_DG			★☆☆☆☆ Found in Text Mining only
Polyposis, Adenomatous Intestinal	Multiple polyposis syndrome	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Polyposis, Gastric	Gastric polyposis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Precursor Cell Lymphoblastic Leukemia Lymphoma	Lymphoblastic Leukemia	BEFREE	11323101, 19065772		★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	10792001, 18355840, 21321528, 21348638, 21480311, 23464402		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic Neoplasms	LHGDN	18355840		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostatic Neoplasms	Prostatic Neoplasms	CTD_human_DG	18355840		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	18355840, 23464402	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Psychotic Disorders	Psychosis	BEFREE	28601717, 29971958		★☆☆☆☆ Found in Text Mining only
Rectal Carcinoma	Rectal Carcinoma	BEFREE	27889996, 30590005		★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	BEFREE	12771799		★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	12574395		★☆☆☆☆ Found in Text Mining only
Salivary Gland Neoplasms	Salivary gland neoplasms	Pubtator	35218645	Associate	★☆☆☆☆ Found in Text Mining only
Sarcoma	Sarcoma	BEFREE	12149303, 24145283		★☆☆☆☆ Found in Text Mining only
Secondary malignant neoplasm of colon and/or rectum	Colorectal Neoplasms	BEFREE	25884216, 26950035		★☆☆☆☆ Found in Text Mining only
Simple renal cyst	Renal cyst	HPO_DG			★☆☆☆☆ Found in Text Mining only
Small cell carcinoma of lung	Lung carcinoma	BEFREE	10964688, 16883578, 16934363, 21529984		★☆☆☆☆ Found in Text Mining only
Spinal Cord Neoplasms	Spinal Cord Neoplasms	BEFREE	20406235		★☆☆☆☆ Found in Text Mining only
Sporadic Breast Carcinoma	Breast Carcinoma	BEFREE	10098729		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	BEFREE	15113040, 25598504, 30132569		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of esophagus	Esophagus Neoplasm	BEFREE	26768616, 31582906		★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	23437280, 25906090, 33714009	Associate	★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of the head and neck	Carcinoma Of The Head And Neck	BEFREE	12509964, 12966509		★☆☆☆☆ Found in Text Mining only
Steroid resistant nephrotic syndrome of childhood	Steroid resistant nephrotic syndrome	BEFREE	31191307		★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	15756676, 17944563, 19894224, 24515389, 31145962		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	23317227, 26857264, 27476653	Associate	★☆☆☆☆ Found in Text Mining only
synovial sarcoma	Synovial sarcoma	BEFREE	17464317		★☆☆☆☆ Found in Text Mining only
Thyroid Gland Follicular Adenoma	Thyroid Gland Follicular Adenoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Transitional cell carcinoma of bladder	Bladder carcinoma	BEFREE	17676485		★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple Negative Breast Neoplasms	BEFREE	25023197		★☆☆☆☆ Found in Text Mining only
Turcot syndrome	Turcot syndrome	Pubtator	10861262, 23724141	Associate	★☆☆☆☆ Found in Text Mining only
Turcot syndrome (disorder)	Turcot syndrome	BEFREE	14871813, 28224663		★☆☆☆☆ Found in Text Mining only
Ulcerative Colitis	Ulcerative colitis	BEFREE	31789935		★☆☆☆☆ Found in Text Mining only
Unipolar Depression	Mental Depression	BEFREE	20520284		★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	11506498	Associate	★☆☆☆☆ Found in Text Mining only
Uterine Fibroids	Uterine Fibroids	HPO_DG			★☆☆☆☆ Found in Text Mining only