MUTYH (mutY DNA glycosylase)

Gene

• Entrez ID: 4595
• Gene name: MutY DNA glycosylase
• Gene symbol: MUTYH
• Synonyms (NCBI Gene): MYH
• Chromosome: 1
• Chromosome location: 1p34.1
• Summary: This gene encodes a DNA glycosylase involved in oxidative DNA damage repair. The enzyme excises adenine bases from the DNA backbone at sites where adenine is inappropriately paired with guanine, cytosine, or 8-oxo-7,8-dihydroguanine, a major oxidatively d

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs3219488	G>A	Likely-benign, conflicting-interpretations-of-pathogenicity	Intron variant
rs34126013	G>A	Pathogenic, pathogenic-likely-pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs34612342	T>C	Pathogenic, pathogenic-likely-pathogenic	Coding sequence variant, 5 prime UTR variant, missense variant, non coding transcript variant
rs35352891	G>A	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, missense variant, non coding transcript variant
rs36053993	C>A,T	Pathogenic, uncertain-significance, pathogenic-likely-pathogenic, likely-pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs74318065	C>G,T	Likely-benign, benign, conflicting-interpretations-of-pathogenicity	Non coding transcript variant, coding sequence variant, synonymous variant
rs75321043	C>T	Conflicting-interpretations-of-pathogenicity, benign, benign-likely-benign	5 prime UTR variant, non coding transcript variant, coding sequence variant, missense variant
rs77542170	T>C	Pathogenic-likely-pathogenic, uncertain-significance, conflicting-interpretations-of-pathogenicity	Splice acceptor variant
rs79777494	G>A	Benign-likely-benign, benign, conflicting-interpretations-of-pathogenicity	Non coding transcript variant, missense variant, 5 prime UTR variant, coding sequence variant
rs121908380	G>A,T	Pathogenic, benign, benign-likely-benign	Synonymous variant, coding sequence variant, stop gained, 5 prime UTR variant, intron variant, non coding transcript variant
rs121908381	C>A	Pathogenic	Stop gained, non coding transcript variant, coding sequence variant
rs121908382	G>A	Pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs121908383	T>C	Pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs138089183	G>A	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Non coding transcript variant, missense variant, coding sequence variant
rs138775799	G>A	Pathogenic	Stop gained, coding sequence variant, 5 prime UTR variant, intron variant, non coding transcript variant
rs140156029	C>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, non coding transcript variant, missense variant
rs140288388	G>A	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Splice donor variant
rs140342925	C>T	Pathogenic, pathogenic-likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs141679570	G>A,C	Conflicting-interpretations-of-pathogenicity, likely-benign, benign	Coding sequence variant, synonymous variant, 5 prime UTR variant, non coding transcript variant, missense variant
rs143353451	C>A,G,T	Pathogenic, likely-pathogenic, uncertain-significance	Coding sequence variant, 5 prime UTR variant, non coding transcript variant, missense variant
rs144079536	G>C,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign	Coding sequence variant, non coding transcript variant, missense variant
rs144616312	G>A,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign	Coding sequence variant, synonymous variant, non coding transcript variant, missense variant
rs146331482	G>-,GGG	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs147718169	C>A,G,T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant, non coding transcript variant
rs149866955	C>G,T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant, non coding transcript variant
rs150792276	G>A	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant, non coding transcript variant
rs199989617	C>G,T	Likely-pathogenic	Missense variant, coding sequence variant, synonymous variant, non coding transcript variant
rs200165598	C>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, coding sequence variant, non coding transcript variant
rs200495564	G>A	Pathogenic, pathogenic-likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs200844166	G>T	Pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs201163858	A>C,G	Uncertain-significance, likely-pathogenic	Non coding transcript variant, initiator codon variant, missense variant, coding sequence variant, 5 prime UTR variant
rs369410616	C>T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Non coding transcript variant, missense variant, coding sequence variant
rs369677603	C>T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Non coding transcript variant, 5 prime UTR variant, coding sequence variant, missense variant
rs370124822	G>A,C	Pathogenic, uncertain-significance, likely-pathogenic, pathogenic-likely-pathogenic	Intron variant, non coding transcript variant, missense variant, coding sequence variant, 5 prime UTR variant, stop gained
rs372267274	C>G,T	Pathogenic, pathogenic-likely-pathogenic	Splice acceptor variant, 5 prime UTR variant, non coding transcript variant, intron variant
rs372673338	C>A,T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Non coding transcript variant, coding sequence variant, synonymous variant
rs374950566	G>A	Pathogenic, pathogenic-likely-pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs375084663	C>T	Conflicting-interpretations-of-pathogenicity, likely-benign	Non coding transcript variant, synonymous variant, coding sequence variant, 5 prime UTR variant, missense variant
rs375526246	C>A,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Non coding transcript variant, coding sequence variant, 5 prime UTR variant, missense variant, intron variant
rs376561094	G>A	Pathogenic	Coding sequence variant, stop gained, non coding transcript variant
rs376600220	G>A	Conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign	5 prime UTR variant, intron variant, non coding transcript variant
rs376790729	C>A,T	Pathogenic, likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant, stop gained, non coding transcript variant
rs529008617	G>A	Pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs558173961	G>A,T	Uncertain-significance, conflicting-interpretations-of-pathogenicity, pathogenic	Non coding transcript variant, coding sequence variant, missense variant, stop gained
rs558707786	T>C	Uncertain-significance, likely-pathogenic	5 prime UTR variant, intron variant, non coding transcript variant, coding sequence variant, missense variant
rs560905645	C>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign	Non coding transcript variant, coding sequence variant, intron variant, missense variant, 5 prime UTR variant
rs564930066	C>G	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Non coding transcript variant, coding sequence variant, intron variant, missense variant, 5 prime UTR variant
rs587778536	G>-	Pathogenic, likely-pathogenic, not-provided	Coding sequence variant, frameshift variant, non coding transcript variant
rs587778541	CCT>-	Not-provided, pathogenic	Coding sequence variant, inframe deletion, non coding transcript variant
rs587780078	->CC	Pathogenic-likely-pathogenic, pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs587780082	G>A	Pathogenic	Stop gained, coding sequence variant, non coding transcript variant
rs587780083	CT>GC	Likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant, non coding transcript variant
rs587780086	G>-	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, frameshift variant, non coding transcript variant
rs587780088	G>A,C	Uncertain-significance, pathogenic	Non coding transcript variant, stop gained, missense variant, coding sequence variant, 5 prime UTR variant
rs587780742	T>A	Benign, conflicting-interpretations-of-pathogenicity	Intron variant
rs587780749	C>A,T	Likely-pathogenic, uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant, non coding transcript variant
rs587780751	T>G	Uncertain-significance, pathogenic	Intron variant
rs587781295	C>T	Likely-pathogenic, pathogenic	Non coding transcript variant, stop gained, intron variant, coding sequence variant, 5 prime UTR variant
rs587781337	C>A,T	Pathogenic-likely-pathogenic, likely-pathogenic	Splice donor variant
rs587781338	G>A	Pathogenic	Stop gained, coding sequence variant, non coding transcript variant
rs587781628	T>C	Pathogenic-likely-pathogenic, pathogenic	Splice acceptor variant
rs587781704	C>-	Pathogenic	Coding sequence variant, frameshift variant, 5 prime UTR variant, non coding transcript variant
rs587781864	C>T	Pathogenic-likely-pathogenic, likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant, 5 prime UTR variant, non coding transcript variant
rs587782066	T>C	Uncertain-significance, likely-pathogenic	Splice acceptor variant, intron variant
rs587782228	C>A,T	Pathogenic-likely-pathogenic, likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant, non coding transcript variant
rs587782263	C>A,T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant, non coding transcript variant
rs587782716	GC>CT	Pathogenic	Stop gained, coding sequence variant, non coding transcript variant
rs587782730	A>C,G	Likely-pathogenic	Splice donor variant, non coding transcript variant, 5 prime UTR variant, intron variant
rs587782885	G>A,C	Likely-pathogenic, pathogenic	Stop gained, coding sequence variant, missense variant, non coding transcript variant
rs587783057	G>A	Pathogenic	Stop gained, coding sequence variant, non coding transcript variant
rs730881832	A>T	Uncertain-significance, likely-pathogenic, pathogenic	Non coding transcript variant, missense variant, intron variant, coding sequence variant, 5 prime UTR variant
rs730881833	C>A,T	Uncertain-significance, likely-pathogenic, pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs730881834	G>C	Uncertain-significance, likely-pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs730881838	G>A	Likely-benign, conflicting-interpretations-of-pathogenicity, benign-likely-benign	Synonymous variant, coding sequence variant, non coding transcript variant
rs745910470	G>A	Pathogenic	Stop gained, coding sequence variant, non coding transcript variant
rs745921592	C>A	Pathogenic	Stop gained, coding sequence variant, 5 prime UTR variant, non coding transcript variant
rs746449748	C>-	Likely-pathogenic, pathogenic	Frameshift variant, non coding transcript variant, splice acceptor variant, intron variant, coding sequence variant, 5 prime UTR variant
rs747993448	G>A	Pathogenic-likely-pathogenic, pathogenic	Coding sequence variant, missense variant, 5 prime UTR variant, non coding transcript variant
rs748170941	C>G,T	Conflicting-interpretations-of-pathogenicity, pathogenic	Non coding transcript variant, stop gained, missense variant, intron variant, coding sequence variant, 5 prime UTR variant
rs750592289	G>A	Uncertain-significance, likely-pathogenic	5 prime UTR variant, coding sequence variant, non coding transcript variant, missense variant
rs757672024	C>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign	Intron variant
rs758377868	T>A,C	Conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign	Intron variant
rs761468459	C>-	Pathogenic-likely-pathogenic, pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs761763725	C>G,T	Likely-pathogenic, uncertain-significance	Coding sequence variant, intron variant, non coding transcript variant, 5 prime UTR variant, missense variant
rs761840203	C>T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Intron variant
rs762307622	C>A,T	Pathogenic-likely-pathogenic, pathogenic, uncertain-significance	Coding sequence variant, intron variant, stop gained, non coding transcript variant, 5 prime UTR variant, missense variant
rs765123255	G>A	Likely-pathogenic, pathogenic-likely-pathogenic	Coding sequence variant, intron variant, non coding transcript variant, 5 prime UTR variant, missense variant
rs765339120	C>A,G,T	Likely-benign, conflicting-interpretations-of-pathogenicity	Non coding transcript variant, synonymous variant, coding sequence variant, missense variant
rs766420907	G>A	Pathogenic	Stop gained, non coding transcript variant, coding sequence variant
rs766553845	TCCGAGCTCCCTCCT>-	Likely-pathogenic, uncertain-significance	Non coding transcript variant, 5 prime UTR variant, coding sequence variant, splice donor variant
rs767717597	G>C,T	Likely-benign, conflicting-interpretations-of-pathogenicity	Non coding transcript variant, intron variant, 5 prime UTR variant
rs768130289	GG>-,G,GGG	Pathogenic, likely-pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs768386527	G>A	Pathogenic, likely-pathogenic	Stop gained, non coding transcript variant, coding sequence variant, 5 prime UTR variant
rs769237459	G>A	Likely-pathogenic, conflicting-interpretations-of-pathogenicity	Non coding transcript variant, missense variant, coding sequence variant
rs771290019	C>A,T	Likely-benign, conflicting-interpretations-of-pathogenicity	Non coding transcript variant, coding sequence variant, synonymous variant
rs773087549	G>A,T	Uncertain-significance, likely-pathogenic	Stop gained, non coding transcript variant, missense variant, coding sequence variant
rs774607582	T>A,C	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant, non coding transcript variant
rs774780021	C>T	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, intron variant, non coding transcript variant, synonymous variant, 5 prime UTR variant
rs776362892	C>-	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs776487884	C>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant, non coding transcript variant
rs780029247	C>T	Conflicting-interpretations-of-pathogenicity, likely-benign	Intron variant
rs780747266	G>A	Conflicting-interpretations-of-pathogenicity, likely-benign	Synonymous variant, coding sequence variant, non coding transcript variant
rs781222233	TATTTCCCCTACC>-	Pathogenic-likely-pathogenic, likely-pathogenic	Intron variant, non coding transcript variant, 5 prime UTR variant
rs786202133	G>C	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, coding sequence variant, non coding transcript variant
rs786203115	G>A	Pathogenic	Coding sequence variant, stop gained, non coding transcript variant
rs786203161	T>C,G	Likely-pathogenic	Splice acceptor variant, non coding transcript variant, 5 prime UTR variant
rs786203213	C>-	Pathogenic, conflicting-interpretations-of-pathogenicity	Coding sequence variant, initiator codon variant, frameshift variant, intron variant, 5 prime UTR variant, non coding transcript variant
rs863224452	T>C	Likely-pathogenic	Splice acceptor variant, intron variant, non coding transcript variant, 5 prime UTR variant
rs863224501	TCACGGACGGG>-	Pathogenic, likely-pathogenic, uncertain-significance	Coding sequence variant, frameshift variant, non coding transcript variant
rs863224502	T>A	Pathogenic	Coding sequence variant, stop gained, non coding transcript variant
rs863224698	G>A,C,T	Conflicting-interpretations-of-pathogenicity, likely-benign, uncertain-significance	Intron variant, non coding transcript variant, 5 prime UTR variant
rs864621967	AGTGCCT>-	Likely-pathogenic	Splice donor variant, coding sequence variant, intron variant, non coding transcript variant
rs864622394	C>A,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Intron variant
rs864622450	T>A	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant, intron variant, 5 prime UTR variant, non coding transcript variant
rs869312771	CAGAGCTCTCCTCCCTGGG>-	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs876659414	GA>-	Likely-pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs876659420	C>A	Likely-pathogenic	Splice donor variant
rs876659625	G>A	Pathogenic	Coding sequence variant, stop gained, intron variant, 5 prime UTR variant, non coding transcript variant
rs876659676	T>C	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs876660092	C>A,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, coding sequence variant, non coding transcript variant, 5 prime UTR variant, synonymous variant
rs876660190	->ATCCAT	Pathogenic-likely-pathogenic, likely-pathogenic, pathogenic	Coding sequence variant, intron variant, 5 prime UTR variant, inframe insertion, non coding transcript variant
rs876660774	T>A	Likely-pathogenic	Coding sequence variant, stop gained, non coding transcript variant
rs876660787	T>A	Pathogenic	Coding sequence variant, stop gained, intron variant, 5 prime UTR variant, non coding transcript variant
rs876660837	C>A	Likely-pathogenic	Splice acceptor variant
rs878854186	T>-	Likely-pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs878854189	->T	Pathogenic	Coding sequence variant, frameshift variant, intron variant, 5 prime UTR variant, non coding transcript variant
rs878854191	G>A	Conflicting-interpretations-of-pathogenicity, likely-benign	Intron variant, non coding transcript variant, 5 prime UTR variant
rs878854193	C>A	Likely-pathogenic	Splice donor variant
rs879254257	C>A,T	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant, non coding transcript variant
rs886039606	GCCAGCAGACCTGAGAGGGAGGGCAGCCAGGCAGGGGTCAGGCCT>-	Pathogenic	Splice acceptor variant, non coding transcript variant, intron variant, coding sequence variant
rs888691362	C>T	Pathogenic, likely-pathogenic	Stop gained, intron variant, non coding transcript variant, coding sequence variant, 5 prime UTR variant
rs932830392	G>A	Likely-pathogenic, conflicting-interpretations-of-pathogenicity	Non coding transcript variant, coding sequence variant, stop gained
rs1057517456	T>-	Likely-pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs1057517457	GCCAGCCCAG>-	Pathogenic-likely-pathogenic, pathogenic, likely-pathogenic	Frameshift variant, 5 prime UTR variant, coding sequence variant, non coding transcript variant
rs1057517459	C>T	Likely-pathogenic	Splice acceptor variant
rs1057517765	T>C,G	Likely-pathogenic, uncertain-significance, pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs1057520660	C>G,T	Likely-pathogenic, pathogenic	5 prime UTR variant, intron variant, splice acceptor variant, non coding transcript variant
rs1060501321	C>A	Pathogenic	Stop gained, coding sequence variant, non coding transcript variant
rs1060501324	C>T	Pathogenic-likely-pathogenic, pathogenic	Stop gained, coding sequence variant, non coding transcript variant
rs1060501325	C>T	Pathogenic	Stop gained, coding sequence variant, non coding transcript variant
rs1060501333	A>C	Likely-pathogenic	Splice donor variant
rs1060501335	A>G	Likely-pathogenic, conflicting-interpretations-of-pathogenicity, pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs1060501336	T>-	Pathogenic	Frameshift variant, 5 prime UTR variant, coding sequence variant, non coding transcript variant
rs1060501346	C>T	Likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs1060504205	G>A	Conflicting-interpretations-of-pathogenicity	Intron variant
rs1064793197	GTGCTA>AGCAGCTG	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs1064793198	A>C	Likely-pathogenic	Stop gained, coding sequence variant, non coding transcript variant
rs1064795219	C>T	Likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs1064795480	C>-	Likely-pathogenic, pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs1064796630	G>A	Likely-pathogenic, pathogenic	Stop gained, coding sequence variant, non coding transcript variant
rs1114167685	A>T	Pathogenic	Stop gained, coding sequence variant, non coding transcript variant
rs1306473047	C>A,T	Uncertain-significance, pathogenic	Non coding transcript variant, missense variant, stop gained, coding sequence variant, 5 prime UTR variant
rs1338038953	C>T	Pathogenic	Stop gained, coding sequence variant, non coding transcript variant
rs1383826978	T>C	Uncertain-significance, likely-pathogenic	Splice acceptor variant
rs1437789978	G>A	Pathogenic	Coding sequence variant, stop gained, non coding transcript variant
rs1553123017	->AC	Likely-pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs1553124893	->T	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs1553125075	TG>-	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs1553125100	->T	Likely-pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs1553125243	T>-	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs1553125622	C>-	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs1553125677	GGCCCAGCCC>-	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs1553125766	TTC>G	Likely-pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs1553125914	->TC	Likely-pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs1553126848	GCTCCGAGGGAGGCAGGCACAGG>-	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs1553127514	CT>-	Likely-pathogenic	Non coding transcript variant, splice donor variant, coding sequence variant
rs1553127659	G>A,C	Uncertain-significance, pathogenic	Non coding transcript variant, coding sequence variant, missense variant, stop gained
rs1553127825	A>CT	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs1553128663	T>C	Likely-pathogenic	Splice acceptor variant
rs1553128712	C>-	Likely-pathogenic	Non coding transcript variant, splice donor variant, coding sequence variant, 5 prime UTR variant
rs1553128813	G>A	Pathogenic-likely-pathogenic	Non coding transcript variant, coding sequence variant, 5 prime UTR variant, stop gained
rs1553129062	C>-	Likely-pathogenic	Non coding transcript variant, coding sequence variant, 5 prime UTR variant, stop gained
rs1553129349	C>-	Likely-pathogenic	Intron variant, 5 prime UTR variant, non coding transcript variant, frameshift variant, coding sequence variant
rs1553129521	A>C	Likely-pathogenic	Intron variant, splice donor variant, non coding transcript variant, 5 prime UTR variant
rs1553129638	G>-	Pathogenic	Intron variant, 5 prime UTR variant, non coding transcript variant, frameshift variant, coding sequence variant
rs1553129652	->TGACCTCTGAGACC	Pathogenic	Intron variant, 5 prime UTR variant, non coding transcript variant, frameshift variant, coding sequence variant
rs1553129676	C>-	Pathogenic	Intron variant, 5 prime UTR variant, non coding transcript variant, frameshift variant, coding sequence variant
rs1553129862	T>C	Conflicting-interpretations-of-pathogenicity	Intron variant, initiator codon variant, 5 prime UTR variant, non coding transcript variant, synonymous variant, coding sequence variant, missense variant
rs1553129892	C>A,T	Likely-pathogenic, uncertain-significance, pathogenic	Intron variant, 5 prime UTR variant, non coding transcript variant, coding sequence variant, missense variant, stop gained
rs1553130042	C>A,T	Likely-pathogenic	Intron variant, splice donor variant
rs1553130185	C>T	Pathogenic	Intron variant, 5 prime UTR variant, non coding transcript variant, coding sequence variant, stop gained
rs1557451154	ATACAGGT>TGGGCTGTTGG	Pathogenic	Inframe indel, coding sequence variant, non coding transcript variant
rs1557474906	C>T	Likely-pathogenic	Splice acceptor variant
rs1557474961	G>A	Likely-benign, conflicting-interpretations-of-pathogenicity	Intron variant
rs1557485553	A>G	Likely-pathogenic	Coding sequence variant, missense variant, 5 prime UTR variant, intron variant, non coding transcript variant
rs1557486313	C>-	Pathogenic	Coding sequence variant, frameshift variant, 5 prime UTR variant, intron variant, non coding transcript variant
rs1557487793	C>A	Pathogenic	Coding sequence variant, stop gained, 5 prime UTR variant, intron variant, non coding transcript variant
rs1570314279	->GGAG	Likely-pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs1570346782	CT>-	Likely-pathogenic	Splice acceptor variant
rs1570366181	C>-	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs1570373385	C>-	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs1570376147	G>-	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs1570406302	C>T	Pathogenic	Non coding transcript variant, coding sequence variant, stop gained
rs1570409700	C>T	Likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs1570415363	TGTAGCGCCCCACGCCAGGCAGGAGCTG>-	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs1570423722	C>T	Pathogenic	Non coding transcript variant, 5 prime UTR variant, coding sequence variant, stop gained
rs1570428456	GTA>TT	Pathogenic	Frameshift variant, intron variant, 5 prime UTR variant, non coding transcript variant, coding sequence variant
rs1570433022	G>C	Pathogenic	Intron variant, 5 prime UTR variant, stop gained, non coding transcript variant, coding sequence variant
rs1570443585	->T	Pathogenic	Frameshift variant, intron variant, 5 prime UTR variant, non coding transcript variant, coding sequence variant
rs1570465624	CTTCCTGTGACCACTTCCCACGGCTGCTCGTGGCTTCCTCATGATGGCCTGAAACAAAAAGACCCAGCCAAAGCAGTCAGTCACAATGAGGCCAAATTTTGAGGCCTTCCAAGGGTGATAGCTATCTCCCTCTCATCCACCAT>G	Pathogenic	Non coding transcript variant, intron variant, splice acceptor variant, 5 prime UTR variant, initiator codon variant, coding sequence variant
rs1570467133	T>C	Pathogenic	5 prime UTR variant, initiator codon variant, missense variant, non coding transcript variant, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT640343	hsa-miR-4637	HITS-CLIP	23824327
MIRT640342	hsa-miR-3664-3p	HITS-CLIP	23824327
MIRT640341	hsa-miR-1266-5p	HITS-CLIP	23824327
MIRT640340	hsa-miR-4518	HITS-CLIP	23824327
MIRT640339	hsa-miR-4320	HITS-CLIP	23824327
MIRT640343	hsa-miR-4637	HITS-CLIP	23824327
MIRT640342	hsa-miR-3664-3p	HITS-CLIP	23824327
MIRT640341	hsa-miR-1266-5p	HITS-CLIP	23824327
MIRT640340	hsa-miR-4518	HITS-CLIP	23824327
MIRT640339	hsa-miR-4320	HITS-CLIP	23824327

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000701	Function	Purine-specific mismatch base pair DNA N-glycosylase activity	IBA
GO:0000701	Function	Purine-specific mismatch base pair DNA N-glycosylase activity	IEA
GO:0000701	Function	Purine-specific mismatch base pair DNA N-glycosylase activity	IMP	20848659
GO:0003677	Function	DNA binding	IEA
GO:0003824	Function	Catalytic activity	IEA
GO:0005515	Function	Protein binding	IPI	11801590, 25416956
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IEA
GO:0005634	Component	Nucleus	TAS	7823963
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005739	Component	Mitochondrion	HTP	34800366
GO:0005739	Component	Mitochondrion	IEA
GO:0006281	Process	DNA repair	IEA
GO:0006281	Process	DNA repair	TAS	8682794
GO:0006284	Process	Base-excision repair	IBA
GO:0006284	Process	Base-excision repair	IEA
GO:0006298	Process	Mismatch repair	IBA
GO:0006298	Process	Mismatch repair	TAS	7823963
GO:0006950	Process	Response to stress	IEA
GO:0006974	Process	DNA damage response	IEA
GO:0016787	Function	Hydrolase activity	IEA
GO:0016798	Function	Hydrolase activity, acting on glycosyl bonds	IEA
GO:0019104	Function	DNA N-glycosylase activity	IEA
GO:0019104	Function	DNA N-glycosylase activity	TAS
GO:0032357	Function	Oxidized purine DNA binding	IBA
GO:0032405	Function	MutLalpha complex binding	IDA	11801590
GO:0032406	Function	MutLbeta complex binding	IDA	11801590
GO:0032407	Function	MutSalpha complex binding	IDA	11801590
GO:0032408	Function	MutSbeta complex binding	IDA	11801590
GO:0034039	Function	8-oxo-7,8-dihydroguanine DNA N-glycosylase activity	IBA
GO:0035485	Function	Adenine/guanine mispair binding	IBA
GO:0045007	Process	Depurination	TAS
GO:0046872	Function	Metal ion binding	IEA
GO:0051536	Function	Iron-sulfur cluster binding	IEA
GO:0051539	Function	4 iron, 4 sulfur cluster binding	IEA
GO:0060546	Process	Negative regulation of necroptotic process	IEA

Other IDs

• MIM: 604933
• HGNC: 7527
• e!Ensembl: ENSG00000132781

Protein

• UniProt ID: Q9UIF7
• Protein name: Adenine DNA glycosylase (EC 3.2.2.31) (MutY homolog) (hMYH)
• Protein function: Involved in oxidative DNA damage repair. Initiates repair of A*oxoG to C*G by removing the inappropriately paired adenine base from the DNA backbone. Possesses both adenine and 2-OH-A DNA glycosylase activities. {ECO:0000269|PubMed:10684930, ECO
• PDB: 1X51, 3N5N, 8FAY
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00730	HhH-GPD	129 → 265	HhH-GPD superfamily base excision DNA repair protein	Domain
  PF00633	HHH	193 → 223	Helix-hairpin-helix motif	Motif
  PF14815	NUDIX_4	370 → 493	NUDIX domain	Domain

• Sequence:

  MTPLVSRLSRLWAIMRKPRAAVGSGHRKQAASQEGRQKHAKNNSQAKPSACDGMIAECPG
  APAGLARQPEEVVLQASVSSYHLFRDVAEVTAFRGSLLSWYDQEKRDLPWRRRAEDEMDL
  DRRAYAVWVSEVMLQQTQVATVINYYTGWMQKWPTLQDLASASLEEVNQLWAGLGYYSRG
  RRLQEGARKVVEELGGHMPRTAETLQQLLPGVGRYTAGAIASIAFGQATGVVDGNVARVL
  CRVRAIGADPSSTLVSQQLWGLAQQLVDPARPGDFNQAAMELGATVCTPQRPLCSQCPVE
  SLCRARQRVEQEQLLASGSLSGSPDVEECAPNTGQCHLCLPPSEPWDQTLGVVNFPRKAS
  RKPPREESSATCVLEQPGALGAQILLVQRPNSGLLAGLWEFPSVTWEPSEQLQRKALLQE
  LQRWAGPLPATHLRHLGEVVHTFSHIKLTYQVYGLALEGQTPVTTVPPGARWLTQEEFHT
  AAVSTAMKKVFRVYQGQQPGTCMGSKRSQVSSPCSRKKPRMGQQVLDNFFRSHISTDAHS
  LNSAAQ

• Sequence length: 546

Pathways

KEGG:

Base excision repair

Reactome:

Recognition and association of DNA glycosylase with site containing an affected purine
Cleavage of the damaged purine
Displacement of DNA glycosylase by APEX1
Defective MUTYH substrate binding

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
B lymphoblastic leukemia lymphoma, no ICD-O subtype	Pathogenic	rs529008617	RCV000722033	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Breast carcinoma	Likely pathogenic; Pathogenic	rs587778541, rs140342925, rs587783057, rs374950566, rs36053993, rs1645259682	RCV001554326 RCV001262379 RCV001572626 RCV001554252 RCV001574076 RCV001554307	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Carcinoma of colon	Likely pathogenic; Pathogenic	rs587780078, rs587780088, rs587778536, rs587780751, rs140342925, rs587781628, rs529008617, rs587782885, rs587783057, rs374950566, rs765123255, rs34612342, rs36053993, rs121908380, rs121908381, rs876659676, rs762307622, rs372267274, rs761468459	RCV000144636 RCV000144639 RCV000144632 RCV001353438 RCV001353906 RCV000172819 RCV000144633 RCV000144630 RCV000144635 RCV001353603 RCV001353971 RCV000144631 RCV000144637 RCV001353649 RCV001353602 RCV001355443 RCV001353489 RCV001353991 RCV001353713	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Clear cell carcinoma of kidney	Likely pathogenic; Pathogenic	rs587782228	RCV005893699	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Colon cancer	Likely pathogenic; Pathogenic	rs587780751, rs587781864, rs36053993	RCV000626760 RCV004698338 RCV001580144	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Colonic neoplasm	Likely pathogenic; Pathogenic	rs781222233	RCV001579292	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Colorectal adenomatous polyposis, autosomal recessive, with pilomatricomas	Likely pathogenic; Pathogenic	rs36053993	RCV000501239	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Colorectal cancer	Likely pathogenic; Pathogenic	rs587778536, rs34612342, rs1644340673	RCV006249592 RCV006249548 RCV001293835	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Colorectal polyposis	Likely pathogenic; Pathogenic	rs587778541	RCV001610395	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Diffuse midline glioma, H3 K27-altered	Likely pathogenic; Pathogenic	rs140342925, rs36053993	RCV003313780 RCV004785246	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Endometrial cancer	Likely pathogenic; Pathogenic	rs36053993	RCV000005615	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Endometrial carcinoma	Likely pathogenic; Pathogenic	rs34612342	RCV000005613	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Familial adenomatous polyposis 2	Pathogenic; Likely pathogenic	rs1645038575, rs2149088820, rs2149090006, rs876660837, rs2149136521, rs1361763237, rs1423002555, rs2149103038, rs2149130255, rs2149137694, rs761468459, rs2524090518, rs2149152823, rs2149164388, rs1553129676, rs1645377813, rs2149134563, rs876659420, rs587780078, rs587780082, rs587778541, rs587780088, rs2149151527, rs774798236, rs2149112658, rs2149112377, rs2149176927, rs2149143211, rs2149102703, rs587778536, rs2149102678, rs2149133294, rs587780749, rs587780751, rs2149129901, rs769152217, rs2149175646, rs2149166157, rs2149120039, rs121908380, rs2149119265, rs2149138656, rs2149142768, rs1645098684, rs587781295, rs138775799, rs2149160869, rs587781337, rs587781338, rs140342925, rs587781628, rs587781704, rs1557472384, rs587781864, rs529008617, rs587782730, rs587782885, rs587783057, rs2149112121, rs2149164805, rs2149161607, rs1645370714, rs730881833, rs143353451, rs730881832, rs2524216149, rs892204813, rs864621967, rs768130289, rs374950566, rs786203115, rs34126013, rs776487884, rs747993448, rs786203161, rs777184451, rs2524361370, rs372267274, rs786203213, rs765123255, rs748170941, rs2524360107, rs2524017181, rs1644818073, rs2524274573, rs1300812494, rs2523843503, rs2523846596, rs34612342, rs36053993, rs146331482, rs121908381, rs2524157635, rs2523969766, rs2524263141, rs2524286564, rs2523954069, rs2524698721, rs863224502, rs863224501, rs863224452, rs2149158986, rs2524351874, rs1383826978, rs2523915561, rs2524012540, rs2524220280, rs2524273974, rs2524353808, rs2524050386, rs2524243658, rs2523914698, rs2524008424, rs587782228, rs876660774, rs876659414, rs876659676, rs376561094, rs762307622, rs876660787, rs876660190, rs878854186, rs376790729, rs878854193, rs878854189, rs2524243548, rs773087549, rs886039606, rs2523923671, rs2524271890, rs2523921332, rs886046367, rs1060501333, rs1645259682, rs2149164413, rs1553126007, rs2524284138, rs2524001191, rs2149142613, rs1423565685, rs2524122940, rs2524016687, rs2523998901, rs2149128878, rs2524151547, rs2524198581, rs2524023943, rs2524010030, rs2149140738, rs1644799870, rs2523744619, rs1645092023, rs2149175937, rs2523990767, rs2524158214, rs2524072936, rs1218453896, rs2524154093, rs2149135116, rs2523849246, rs1644777520, rs1553136984, rs2523972711, rs1057517459, rs1057517456, rs1057517457, rs1057520660, rs1060501324, rs1553129652, rs745921592, rs1060501321, rs766420907, rs781222233, rs1553123017, rs1060501325, rs1060501335, rs1060501336, rs1553125914, rs1553124893, rs1064795480, rs1064793197, rs1064796630, rs746449748, rs1064795596, rs769237459, rs1553125243, rs1553129638, rs761763725, rs1553125075, rs1553125622, rs1553127514, rs776362892, rs1553129521, rs1553128663, rs370124822, rs199989617, rs1553130042, rs1553130185, rs767402084, rs1553129892, rs1553129062, rs200495564, rs1553126848, rs1553127825, rs1553125677, rs1553129349, rs1553128813, rs768386527, rs1553125100, rs1553125766, rs558173961, rs1557485553, rs1338038953, rs1557474906, rs1557451154, rs888691362, rs1557486313, rs1437789978, rs1570376147, rs1570406302, rs1570415363, rs1570443585, rs1570467133, rs1570465624, rs1570346782, rs1306473047, rs745910470, rs1553127659, rs1570423722, rs1570433022, rs1645371113, rs1645561773, rs1644886403, rs1645192561, rs774968843, rs1645057147, rs1645164432, rs1645261795, rs1553123105	RCV001350437 RCV001378289 RCV001378383 RCV001379351 RCV001378451 RCV001378738 RCV001377842 RCV001384775 RCV001385504 RCV001380116 RCV001381417 RCV003504632 RCV001382145 RCV001390871 RCV001389598 RCV001382773 RCV001532887 RCV001782472 RCV000191935 RCV000465024 RCV000123145 RCV000206117 RCV001874411 RCV001931690 RCV001999028 RCV002048940 RCV001867251 RCV001939271 RCV001998879 RCV000196379 RCV002010543 RCV002044114 RCV000123154 RCV000123158 RCV001907649 RCV001909873 RCV001887259 RCV002007199 RCV002007497 RCV001942189 RCV001941951 RCV001883015 RCV001958674 RCV001959077 RCV001068416 RCV000471769 RCV002047639 RCV000503838 RCV000527702 RCV000196778 RCV000338621 RCV000640397 RCV001986174 RCV000456187 RCV000191934 RCV000530394 RCV000500909 RCV000410310 RCV003101417 RCV003505197 RCV003464415 RCV002280919 RCV000191933 RCV000200700 RCV000701601 RCV003096380 RCV003096813 RCV001781503 RCV000688652 RCV000456980 RCV000198325 RCV000369240 RCV000502295 RCV000229525 RCV000694454 RCV000226581 RCV005097213 RCV000469315 RCV000778982 RCV000230772 RCV000196257 RCV004054915 RCV004572419 RCV003120990 RCV005098423 RCV003103161 RCV002659405 RCV002725584 RCV000005612 RCV000005614 RCV000005616 RCV000005617 RCV000005618 RCV002796286 RCV002898965 RCV002871402 RCV002881053 RCV002867355 RCV002917663 RCV000198593 RCV000196963 RCV000196093 RCV000198184 RCV003033736 RCV003005744 RCV002991644 RCV003041806 RCV003022695 RCV003045823 RCV003037560 RCV003049772 RCV003034959 RCV003027746 RCV003039224 RCV003056413 RCV000204688 RCV001242171 RCV001386175 RCV003462478 RCV000536194 RCV000554059 RCV000411443 RCV000707329 RCV000461918 RCV000763342 RCV000227086 RCV000234544 RCV000230698 RCV000234687 RCV003459799 RCV001222430 RCV001206311 RCV003316933 RCV003331739 RCV003334763 RCV000286237 RCV003470280 RCV003463076 RCV003470281 RCV003463077 RCV003463078 RCV003463079 RCV003450436 RCV003450437 RCV003450438 RCV003450600 RCV003505494 RCV003505528 RCV003505437 RCV003505993 RCV003506022 RCV003504593 RCV003504825 RCV003505000 RCV003613668 RCV003613775 RCV003614589 RCV003613964 RCV003614888 RCV003615141 RCV003811750 RCV003828555 RCV004013474 RCV004013683 RCV004012820 RCV004011859 RCV004011860 RCV004012144 RCV004015174 RCV004015254 RCV004015479 RCV004018349 RCV000410065 RCV000409401 RCV000412332 RCV000553473 RCV000476649 RCV000469962 RCV000474499 RCV000463536 RCV000473747 RCV000475342 RCV000462491 RCV000465367 RCV000459179 RCV000465640 RCV000459274 RCV000465018 RCV000460168 RCV000477814 RCV001851135 RCV000693940 RCV000792421 RCV000707275 RCV000801139 RCV001209233 RCV000499908 RCV000640346 RCV000550116 RCV000548215 RCV000532016 RCV001377116 RCV001858376 RCV001208903 RCV001387801 RCV001853780 RCV000707104 RCV003614048 RCV000576504 RCV000702233 RCV001853781 RCV000697243 RCV001853721 RCV001853782 RCV000576676 RCV001227829 RCV001387744 RCV001206070 RCV000034678 RCV000640393 RCV005208591 RCV000640364 RCV003140050 RCV000669566 RCV000671051 RCV000673895 RCV000667493 RCV000687716 RCV000690384 RCV000699792 RCV000685563 RCV000705838 RCV000767387 RCV000767386 RCV001206801 RCV001385505 RCV000810512 RCV000821385 RCV000794479 RCV000819711 RCV000814319 RCV000794526 RCV000803300 RCV000817807 RCV000800982 RCV001218539 RCV000986306 RCV002549306 RCV001860903 RCV003461398 RCV005093220 RCV001052961 RCV001065387 RCV001059766 RCV001040726 RCV003462655 RCV003142114 RCV001218876 RCV001210519 RCV001212901 RCV001207104 RCV001225731 RCV001298566	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Familial cancer of breast	Likely pathogenic; Pathogenic	rs761468459	RCV005623332	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Familial colorectal cancer	Likely pathogenic; Pathogenic	rs587778536, rs587783057, rs36053993, rs121908380, rs200495564	RCV000626290 RCV002221498 RCV002051775 RCV000661934 RCV000722047	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Familial colorectal cancer type X	Pathogenic	rs143353451	RCV005359377	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Gastric cancer	Likely pathogenic; Pathogenic	rs587780078, rs587780082, rs587778541, rs587780088, rs587778536, rs587780749, rs587780751, rs138775799, rs140342925, rs587781628, rs587781704, rs529008617, rs587782885, rs587783057, rs730881833, rs143353451, rs730881832, rs786203115, rs34126013, rs765123255, rs748170941, rs2524273545, rs2524274573, rs2524697578, rs182537898, rs563885946, rs1644908718, rs1300812494, rs1270853129, rs1553136984, rs34612342, rs36053993, rs121908380, rs121908381, rs121908383, rs587782228, rs762307622, rs876660190, rs769237459, rs199989617, rs200495564, rs1570406302	RCV005394390 RCV002498495 RCV002498496 RCV003162540 RCV005016419 RCV005025203 RCV005016425 RCV005394466 RCV005016430 RCV002478389 RCV005025210 RCV002492514 RCV003162593 RCV003162600 RCV003162678 RCV002478487 RCV005394560 RCV003162709 RCV005025256 RCV003162684 RCV005025253 RCV003164604 RCV003164648 RCV003164649 RCV003164707 RCV003164708 RCV003164709 RCV003164711 RCV003164712 RCV003164713 RCV001554314 RCV005016243 RCV002496270 RCV002496271 RCV000005620 RCV002503805 RCV002500727 RCV005025362 RCV003159665 RCV005027666 RCV002496519 RCV003166117	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hereditary breast ovarian cancer syndrome	Likely pathogenic; Pathogenic	rs587778541, rs2149120608	RCV005638429 RCV001374514	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hereditary cancer-predisposing syndrome	Likely pathogenic; Pathogenic	rs2149130255, rs761468459, rs2149152823, rs587780078, rs587780082, rs587778541, rs587780088, rs2149151527, rs774798236, rs2149112377, rs2149102703, rs587778536, rs587780749, rs587780751, rs2149119265, rs1645098684, rs587781295, rs138775799, rs587781337, rs587781338, rs140342925, rs587781628, rs587781704, rs587781864, rs529008617, rs587782730, rs587782885, rs587783057, rs2149126191, rs2149112121, rs2149164805, rs2149161607, rs2524250418, rs730881833, rs143353451, rs730881832, rs2524216149, rs1057520660, rs2524181970, rs2524356477, rs892204813, rs2524146899, rs864621967, rs2523964937, rs587781529, rs768130289, rs374950566, rs786203115, rs34126013, rs776487884, rs747993448, rs786203161, rs777184451, rs2524361370, rs372267274, rs786203213, rs765123255, rs748170941, rs2524360107, rs2524017181, rs2523841162, rs773720534, rs1644818073, rs2523921174, rs2524357772, rs2149176119, rs2524283822, rs1570443687, rs2523996953, rs2524274573, rs1300812494, rs34612342, rs36053993, rs121908380, rs121908381, rs2523954069, rs863224502, rs863224501, rs863224452, rs2524351874, rs587782228, rs869312771, rs876659420, rs876660774, rs876659414, rs876660837, rs876659676, rs876660729, rs376561094, rs762307622, rs876660787, rs876660190, rs876659625, rs376790729, rs878854193, rs1315680518, rs1557481282, rs2524243548, rs878854183, rs2524112772, rs2524051238, rs2524275031, rs2523957520, rs2523906210, rs1309501452, rs2523911797, rs2524260307, rs2524246510, rs2149172097, rs2149164413, rs2524284138, rs1423565685, rs2524122940, rs2523991314, rs2524271761, rs1644799870, rs1645092023, rs2149175937, rs2149136521, rs2523849246, rs2524276243, rs776719541, rs2524258876, rs2524219849, rs1427656678, rs1057517459, rs1057517456, rs1057517457, rs1060501324, rs1553129652, rs745921592, rs1060501321, rs766420907, rs781222233, rs1060501325, rs1060501335, rs1060501336, rs1064793197, rs1064796630, rs746449748, rs1064795596, rs1114167685, rs769237459, rs1553125243, rs761763725, rs1553125075, rs1553125622, rs1553126320, rs1553127514, rs776362892, rs1553129521, rs1553128663, rs1553129676, rs1553128712, rs1553128929, rs370124822, rs199989617, rs1553130042, rs1553130185, rs767402084, rs1553136984, rs1553129892, rs1553129062, rs200495564, rs1553127825, rs1553125677, rs1553128813, rs768386527, rs1383826978, rs1557485553, rs1338038953, rs888691362, rs1557486313, rs1437789978, rs1570415363, rs1570443585, rs1570467133, rs1570346782, rs1306473047, rs1570364144, rs1570366181, rs1570373385, rs1570373782, rs745910470, rs1570382822, rs1553127659, rs149866955, rs1570408704, rs1570409700, rs1570423722, rs1570423912, rs1570428456, rs1570433022, rs1645371113, rs1645561773, rs1645192561, rs1645571595, rs1645259682, rs774968843, rs1645261795	RCV001523926 RCV005372689 RCV004639611 RCV000115749 RCV000115753 RCV000115758 RCV000447652 RCV002359317 RCV002361270 RCV005375031 RCV003355734 RCV000164291 RCV000131615 RCV000129539 RCV004044366 RCV005674882 RCV000128998 RCV000129018 RCV000129098 RCV000129103 RCV000129105 RCV000129730 RCV000129874 RCV000130180 RCV000131914 RCV000132227 RCV000132522 RCV000569738 RCV002255942 RCV002255943 RCV002257260 RCV002255945 RCV002459033 RCV000221854 RCV000214896 RCV000160751 RCV002342519 RCV002330413 RCV002338253 RCV002346830 RCV002345006 RCV002369142 RCV000215481 RCV002364522 RCV002391603 RCV000165254 RCV000164625 RCV000166279 RCV000164664 RCV000164298 RCV000166998 RCV000166350 RCV000165108 RCV002430325 RCV000166470 RCV000166426 RCV000162761 RCV000164326 RCV002376327 RCV002389984 RCV002392282 RCV002394968 RCV002385722 RCV002383636 RCV002446010 RCV002419778 RCV002424380 RCV002439359 RCV002444121 RCV003164647 RCV004946008 RCV000115766 RCV000115748 RCV000163049 RCV000222872 RCV003585307 RCV001184572 RCV001010324 RCV002354561 RCV005439089 RCV000215469 RCV000210110 RCV000223520 RCV000219128 RCV000217438 RCV000218775 RCV000216419 RCV000219744 RCV000223123 RCV000213856 RCV000216618 RCV000215777 RCV000219018 RCV000221410 RCV000571910 RCV002372265 RCV003176381 RCV003182801 RCV003182814 RCV003182815 RCV003182818 RCV003182821 RCV003182823 RCV003311340 RCV003278601 RCV003311344 RCV003278615 RCV003344144 RCV003350700 RCV003360878 RCV003350701 RCV005402034 RCV005675204 RCV005403314 RCV004364751 RCV003585649 RCV003585658 RCV003585665 RCV006411896 RCV005387230 RCV005675290 RCV004366738 RCV004943288 RCV004523667 RCV004523669 RCV004523670 RCV004523673 RCV004523686 RCV002392934 RCV001176292 RCV000569402 RCV001022814 RCV001017073 RCV005443071 RCV000571018 RCV003352871 RCV000773657 RCV000580373 RCV001010733 RCV000771347 RCV002379435 RCV002374880 RCV001025763 RCV000493987 RCV003168963 RCV000491171 RCV000777643 RCV000570778 RCV000570640 RCV001019554 RCV000561817 RCV000568119 RCV000570979 RCV000564810 RCV000570829 RCV000567036 RCV000561898 RCV000573409 RCV000568953 RCV000561565 RCV000570847 RCV000567080 RCV000571337 RCV000571879 RCV000569145 RCV000569246 RCV000777015 RCV000582433 RCV000582105 RCV002341499 RCV000129829 RCV002420742 RCV003352961 RCV002343420 RCV000773209 RCV001178888 RCV001020006 RCV004026201 RCV002386286 RCV000776071 RCV000777549 RCV006406754 RCV005672491 RCV002433972 RCV002332595 RCV002390669 RCV002346192 RCV001011521 RCV001011237 RCV001010634 RCV001010620 RCV001009972 RCV001009931 RCV001018313 RCV001027296 RCV001026256 RCV001025999 RCV001023769 RCV001023690 RCV001022938 RCV001022500 RCV004649433 RCV001182520 RCV001185714 RCV001183600 RCV001177178 RCV001177835 RCV001190400 RCV005384981 RCV002339609	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Inherited polyposis and early onset colorectal cancer - germline testing	Likely pathogenic; Pathogenic	rs34612342, rs36053993	RCV005055057 RCV004808548	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Melanoma	Likely pathogenic	rs2149136521	RCV005912606	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
MUTYH-related disorder	Likely pathogenic; Pathogenic	rs587780078, rs587778536, rs587780751, rs587781337, rs140342925, rs143353451, rs34612342, rs36053993, rs121908381, rs587782228, rs376790729, rs769237459, rs888691362	RCV004542819 RCV004530025 RCV004542929 RCV004532544 RCV004532545 RCV004535046 RCV004528083 RCV004528084 RCV003335015 RCV004530223 RCV004532861 RCV004740303 RCV004723164	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Neoplasm of stomach	Likely pathogenic; Pathogenic	rs587780088, rs140342925, rs36053993, rs372267274, rs1553125914	RCV000763343 RCV000515198 RCV000477907 RCV000763342 RCV000477814	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Ovarian cancer	Likely pathogenic; Pathogenic	rs747993448, rs121908380	RCV003153454 RCV006249186	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Ovarian carcinoma	Likely pathogenic; Pathogenic	rs36053993	RCV001262769	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Ovarian serous cystadenocarcinoma	Likely pathogenic	rs2524243548	RCV005931277	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Pilomatrixoma	Likely pathogenic; Pathogenic	rs587780088, rs587780749, rs140342925, rs747993448, rs36053993, rs372267274	RCV000763343 RCV001292933 RCV000515198 RCV002272151 RCV000515320 RCV000763342	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Sarcoma	Likely pathogenic; Pathogenic	rs587780751	RCV005890500	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Small intestine carcinoid	Likely pathogenic; Pathogenic	rs36053993	RCV000493920	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Thyroid cancer, nonmedullary, 1	Likely pathogenic; Pathogenic	rs1553123105	RCV005910956	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Cervical cancer	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLONIC NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLORECTAL ADENOMATOUS POLYPOSIS, AUTOSOMAL RECESSIVE	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 1	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL PONTOCEREBELLAR HYPOPLASIA TYPE 7	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial adenomatous polyposis 1	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial multiple polyposis syndrome	Conflicting classifications of pathogenicity; Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FAMILIAL OVARIAN CANCER	—	ClinGen	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial pancreatic carcinoma	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatoblastoma	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEREDITARY BREAST CARCINOMA	—	ClinGen	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hereditary cancer	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lymphoma	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lynch syndrome 1	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of breast	Benign; Likely benign; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of urinary bladder	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MUTYH-related Breast Cancer	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neoplasm	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PERIPHERAL ARTERIAL DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Retinoblastoma	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Squamous cell carcinoma of the head and neck	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
STOMACH NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Adenocarcinoma	Adenocarcinoma	LHGDN	18186383		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma	Adenocarcinoma	BEFREE	19161591, 28390865		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of colon	Adenocarcinoma Of Colon	HPO_DG			★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of large intestine	Colorectal Cancer	CGI_DG			★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	BEFREE	29209987		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of prostate	Prostate adenocarcinoma	BEFREE	27253753		★☆☆☆☆ Found in Text Mining only
Adenoma	Adenoma	LHGDN	12393807, 14999774, 15290654, 15890374, 16521226, 16831587, 16938257, 17219385, 17252231		★☆☆☆☆ Found in Text Mining only
Adenoma	Adenoma	BEFREE	12606733, 12707038, 12937124, 14735163, 15188161, 15449173, 15947872, 16287072, 16645203, 16890597, 16941501, 16943222, 17219385, 17931073, 17949294, 18172263, 19793053, 22371070, 22851115, 25822476, 27783336		★☆☆☆☆ Found in Text Mining only
Adenoma of large intestine	Colorectal adenoma	BEFREE	12393807, 12606733, 12937124, 14579148, 14691304, 14991577, 14999774, 15034862, 15083190, 15180946, 15366000, 15465463, 15673720, 15890374, 15943555, 16042573, 16134146, 16455870, 16521226, 16616356, 16720376, 16890597, 17161978, 17219200, 17252231, 17638869, 17703316, 17949294, 18271935, 18564191, 19031083, 19404084, 19414147, 19531215, 20848659, 20939750, 21826668, 22744763, 22851115, 22926731, 23007840, 23852950, 23951112, 24620956, 25822476, 29215473		★☆☆☆☆ Found in Text Mining only
Adenomatous Polyposis Coli	Multiple polyposis syndrome	BEFREE	12606733, 12628248, 14735163, 14999774, 15108288, 15188161, 15236166, 15366000, 15449173, 15478312, 15761860, 16103460, 16134146, 16134147, 16253015, 16287072, 16510566, 16521226, 16557584, 16616356, 16890597, 16941501, 17039270, 17081686, 17122612, 17200375, 17219385, 17489848, 17674103, 17703316, 17726634, 17949294, 18027849, 18294051, 18422726, 18425378, 18487285, 18495334, 18503156, 18629513, 19279422, 19531215, 19593690, 19793053, 19931546, 19953527, 20418187, 20513532, 20618354, 20924072, 20935450, 21325953, 21696383, 22976915, 23291410, 23460355, 23605219, 23838596, 23946381, 24253443, 24315136, 24362051, 24643704, 24664542, 26446593, 26511139, 26684191, 27145315, 27705013, 28533537, 29105096, 30272267, 30324682, 30604180, 30852976, 30904095, 31062380, 31285513, 31739127		★☆☆☆☆ Found in Text Mining only
Adenomatous Polyposis Coli	Multiple polyposis syndrome	CTD_human_DG	15987719		★☆☆☆☆ Found in Text Mining only
Adenomatous Polyposis Coli	Multiple polyposis syndrome	LHGDN	16042573, 17219385, 17489848, 17703316, 19000687		★☆☆☆☆ Found in Text Mining only
Adenomatous Polyposis Coli	Multiple polyposis syndrome	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
Adenomatous Polyps	Adenomatous Polyposis	BEFREE	15236166, 16510566, 16774938, 17674103, 23007840		★☆☆☆☆ Found in Text Mining only
Adrenocortical carcinoma	Adrenocortical carcinoma	BEFREE	28127763		★☆☆☆☆ Found in Text Mining only
Age related macular degeneration	Age-related macular degeneration	BEFREE	22469746, 23202958		★☆☆☆☆ Found in Text Mining only
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED	Amyloidosis	BEFREE	18629513, 19531215, 19793053, 20935450		★☆☆☆☆ Found in Text Mining only
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	26273655, 28173856	Associate	★☆☆☆☆ Found in Text Mining only
Attenuated familial adenomatous polyposis	Adenomatous polyposis	Pubtator	18091433, 19531215, 22851115, 31285513	Associate	★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune Diseases	BEFREE	26273655		★☆☆☆☆ Found in Text Mining only
B lymphoblastic leukemia lymphoma, no ICD-O subtype	B Lymphoblastic Leukemia Lymphoma	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Benign neoplasm of stomach	Benign Neoplasm Of Stomach	CGI_DG			★☆☆☆☆ Found in Text Mining only
Bladder Neoplasm	Bladder Neoplasm	BEFREE	27153553		★☆☆☆☆ Found in Text Mining only
Breast Cancer, Familial	Breast Cancer	BEFREE	19781088, 29093764		★☆☆☆☆ Found in Text Mining only
Breast Cancer, Familial	Breast Cancer	CLINGEN_DG			★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	16492928, 18454351, 20191381, 21952991, 22297469, 27194394, 27630279, 27870262, 30582135, 31273614, 31575519		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Breast Neoplasms	Breast neoplasm	Pubtator	21952991, 22126480, 22297469, 25503501, 26824983, 27194394, 27630279, 30833417, 31575519, 31780696, 31811167, 32868316, 33827469, 33942220, 34866136, 34967580, 35264596, 36011273, 36315513, 37656691	Associate	★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	35403930	Stimulate	★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	18534194, 19443904, 28634180	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	14579148, 14991577, 17161978, 17207658, 18271935, 19031083, 20848659, 21235684, 21826668, 22926731		★☆☆☆☆ Found in Text Mining only
Carcinoma Basal Cell	Basal cell carcinoma	Pubtator	30089731	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	16292541, 21171015, 37923899	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma in situ of stomach	Stomach Carcinoma	CGI_DG			★☆☆☆☆ Found in Text Mining only
Carcinoma in situ of uterine cervix	Cervical Intraepithelial Neoplasia	BEFREE	31027119		★☆☆☆☆ Found in Text Mining only
Carcinoma of bladder	Bladder carcinoma	BEFREE	27153553		★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	14579148, 18155253, 19161591, 29209987		★☆☆☆☆ Found in Text Mining only
Carcinoma Pancreatic Ductal	Pancreatic ductal carcinoma	Pubtator	28726808, 30833417, 32113160	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	33062672, 33442023	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	19161591, 31027119, 34173730	Associate	★☆☆☆☆ Found in Text Mining only
Central Nervous System Diseases	Central nervous system disease	Pubtator	35545820	Associate	★☆☆☆☆ Found in Text Mining only
Cervix carcinoma	Cervix carcinoma	BEFREE	31027119		★☆☆☆☆ Found in Text Mining only
Childhood Acute Lymphoblastic Leukemia	Lymphoblastic Leukemia	BEFREE	20364408		★☆☆☆☆ Found in Text Mining only
Cholangiocarcinoma	Cholangiocarcinoma	BEFREE	16292541, 23138270		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Cholangiocarcinoma	Pubtator	16292541	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Chronic kidney disease stage 5	Kidney Disease	BEFREE	22720119		★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	16234049, 16771692, 16774938, 18823566, 20110747, 22252118, 22266422, 22658618, 26202870, 27194394, 29915346		★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	CGI_DG			★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic Neoplasms	LHGDN	16774938, 17920897		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colonic Neoplasms	Colonic Neoplasms	CTD_human_DG	25030372		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal Adenomatous Polyposis Autosomal Recessive	Colorectal adenomatous polyposis	Pubtator	24253443, 37856205	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Adenomatous Polyposis, Autosomal Recessive	Colorectal Adenomatous Polyposis	CLINVAR_DG	11092888, 11433026, 11818965, 11864576, 12393807, 12606733, 12707038, 12853198, 12917422, 14991577, 14999774, 15180946, 15188161, 15236166, 15366000, 15635083, 15673720, 15761860, 15890374, 15931596, 15987719, 16042573, 16134147, 16140997, 16287072, 16492921, 16557584, 16616356, 16774938, 16890597, 16941501, 17031395, 17081686, 17161978, 17219385, 17273161, 17369389, 17489848, 17674103, 17703316, 17874208, 17931073, 17949294, 18091433, 18172263, 18271935, 18301448, 18422726, 18506705, 18515411, 18534194, 18564191, 19032956, 19245865, 19279422, 19394335, 19506731, 19527492, 19531215, 19732755, 19732775, 19793053, 19806110, 19836313, 19953527, 19998059, 20418187, 20618354, 20628285, 20663686, 20687945, 20725929, 2084865, 20848659, 21063410, 21171015, 21178863, 21195604, 21520333, 21952991, 22158503, 22266422, 22402879, 22473953, 22703879, 22744763, 22773231, 22865608, 22926731, 23108399, 23322991, 23341527, 23361220, 23561487, 23605219, 23625202, 23729658, 23805267, 24082139, 24278394, 24444654, 24470512, 24556621, 24569162, 24728327, 24733792, 24799981, 25151137, 25368107, 25525159, 25590978, 25638157, 25820570, 25892863, 25980754, 26377631, 26446593, 26511139, 26689913, 26824983, 26902849, 26976419, 27194394, 27829682, 27978560, 28127763, 28349240, 28533537, 29406563, 3561487, 9611236		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal Adenomatous Polyposis, Autosomal Recessive	Colorectal Adenomatous Polyposis	CLINGEN_DG	11801590, 11818965, 12393807, 12917422, 15199168, 15604247, 17638869, 19245865, 21063410, 22876359, 23108399, 23322991, 24444654, 24569162, 28087410		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal Adenomatous Polyposis, Autosomal Recessive	Colorectal Adenomatous Polyposis	UNIPROT_DG	11818965, 12606733, 12853198, 15366000, 16134147, 16287072, 16557584, 16941501, 18091433, 18515411, 19953527, 20418187, 20848659, 25820570, 26694661		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal Adenomatous Polyposis, Autosomal Recessive	Colorectal Adenomatous Polyposis	BEFREE	12853198		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal Adenomatous Polyposis, Autosomal Recessive	Colorectal Adenomatous Polyposis	GENOMICS_ENGLAND_DG	12853198		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal Adenomatous Polyposis, Autosomal Recessive	Colorectal Adenomatous Polyposis	ORPHANET_DG	17489848		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal Adenomatous Polyposis, Autosomal Recessive	Colorectal Adenomatous Polyposis	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal Carcinoma	Colorectal Cancer	CLINVAR_DG	11818965, 15236166, 15366000, 15635083, 15931596, 16140997, 16557584, 17122612, 17368238, 18534194, 19032956, 19245865, 19394335, 19531215, 19732775, 19836313, 20725929, 20848659, 21443744, 22703879, 22744763, 23605219		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	12393807, 12707038, 12915454, 14991577, 15034862, 15236166, 15523092, 15931596, 15932553, 15987719, 16042573, 16408224, 16455870, 16492921, 16616356, 16645203, 16774938, 16804517, 16941501, 16943222, 17029639, 17031395, 17200375, 17219200, 17489848, 17581577, 17605803, 17920898, 17931073, 18022921, 18172263, 18271935, 18294051, 18374480, 18495334, 18503156, 18534194, 18564191, 18811933, 18823566, 18980800, 19032956, 19245865, 19307499, 19394335, 19414147, 19620482, 19685280, 19793568, 19953527, 20110747, 20191381, 20418187, 20628285, 20640893, 20663686, 20724227, 20924129, 21061173, 21063410, 21171015, 21287799, 21355073, 21424714, 21901162, 21952991, 22144422, 22266422, 22278153, 22371070, 22538434, 22641385, 23007840, 23019048, 23460355, 23599153, 23605219, 23618615, 23625202, 23852950, 23946381, 24253443, 24315136, 24362051, 24377541, 24444654, 24518836, 24620956, 24643704, 24795265, 24799981, 24801760, 25030372, 25219767, 25822476, 25892863, 26056087, 26169059, 26202870, 26377631, 27145315, 27194394, 27631816, 27978560, 28087410, 28127763, 28135145, 28551381, 29105096, 29330641, 29406563, 29664240, 29746241, 29967336, 30324682, 30604180, 31377904		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal Neoplasms	BEFREE	11818965, 15523092, 24377541		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	12707038, 12937124, 15931596, 16943222, 17029639, 17031395, 17122612, 17605803, 18022921, 18271935, 18503156, 18534194, 18564191, 18823566, 19836313, 20682701, 20687945, 20848659, 20924129, 20939750, 21171015, 21952991, 22278153, 22297469, 23322991, 23599153, 24253443, 24377541, 24444654, 24518836, 25030372, 25892863, 26202870, 26377631, 26900293, 27194394, 27799157, 27978560, 28135145, 28197815, 28445943, 28551381, 29257843, 29766397, 29915346, 29967336, 30324682, 31527860, 32312920, 32686686, 32743790, 33414168, 34244858, 34967562, 35609203, 35628513, 35668106, 35770680, 36356413, 37319387, 40156857, 40469416	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal Neoplasms	LHGDN	12966098, 14991577, 15034862, 15523092, 15635083, 15931596, 16804517, 16938257, 17031395, 18022921, 18271935, 18495334, 18503156, 18811933, 18823566		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms Hereditary Nonpolyposis	Lynch syndrome	Pubtator	24278394, 24518836, 25204323, 26511139, 27978560, 28135145, 29967336, 30324682	Associate	★☆☆☆☆ Found in Text Mining only
Congenital Abnormalities	Congenital abnormalities	Pubtator	15931596	Associate	★☆☆☆☆ Found in Text Mining only
Congenital contractural arachnodactyly	Congenital Contractural Arachnodactyly	BEFREE	23138270		★☆☆☆☆ Found in Text Mining only
Cutaneous Melanoma	Melanoma	BEFREE	21279954		★☆☆☆☆ Found in Text Mining only
Degenerative polyarthritis	Arthritis	BEFREE	29587570		★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	BEFREE	26074017		★☆☆☆☆ Found in Text Mining only
Desmoid disease hereditary	Desmoid tumor	Pubtator	23561487	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	21112374		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	21112374		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	21112374, 23396182, 25829257		★☆☆☆☆ Found in Text Mining only
Digestive System Disorders	Digestive System Disorders	BEFREE	17674103		★☆☆☆☆ Found in Text Mining only
Endometrial Carcinoma	Endometrial carcinoma	BEFREE	16408224, 18980800, 27194394		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Endometrial Carcinoma	Endometrial carcinoma	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Endometrial Neoplasms	Endometrial Neoplasms	LHGDN	17956577		★☆☆☆☆ Found in Text Mining only
Endometrial Neoplasms	Endometrial neoplasm	Pubtator	21171015, 27194394	Associate	★☆☆☆☆ Found in Text Mining only
Familial Intestinal Polyposis	Multiple polyposis syndrome	CTD_human_DG	15987719		★☆☆☆☆ Found in Text Mining only
Gastrointestinal Diseases	Gastrointestinal Diseases	BEFREE	16207212		★☆☆☆☆ Found in Text Mining only
Glaucoma, Primary Open Angle	Glaucoma	BEFREE	23499241, 26056729		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	35545820	Associate	★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	30642852		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	30642852, 35545820, 40469416	Associate	★☆☆☆☆ Found in Text Mining only
Graft vs Host Disease	Graft-versus-host disease	Pubtator	20848659, 24310308	Associate	★☆☆☆☆ Found in Text Mining only
Hamartoma Syndrome, Multiple	Hamartoma	BEFREE	18541388		★☆☆☆☆ Found in Text Mining only
Head and Neck Carcinoma	Head And Neck Carcinoma	BEFREE	20571908, 25916209		★☆☆☆☆ Found in Text Mining only
Head and Neck Neoplasms	Head and neck neoplasm	Pubtator	25916209	Associate	★☆☆☆☆ Found in Text Mining only
Hereditary Breast and Ovarian Cancer Syndrome	Hereditary breast and ovarian cancer syndrome	Pubtator	33326660	Associate	★☆☆☆☆ Found in Text Mining only
Hereditary Diffuse Gastric Cancer	Gastric Cancer	BEFREE	15180946, 16929514		★☆☆☆☆ Found in Text Mining only
Hereditary Diffuse Gastric Cancer	Gastric Cancer	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Hereditary Malignant Neoplasm	Hereditary cancer	BEFREE	29027306		★☆☆☆☆ Found in Text Mining only
Hereditary Nonpolyposis Colorectal Cancer	Colorectal Cancer	BEFREE	16234049, 17039270, 18294051, 18629513, 19931546, 21287799, 22278153, 24278394, 24518836, 24953332, 25980754, 27978560, 28197815, 29664240, 29967336, 30324682, 30604180		★☆☆☆☆ Found in Text Mining only
Hodgkin Disease	Hodgkin Disease	BEFREE	22720119		★☆☆☆☆ Found in Text Mining only
Huntington Disease	Huntington Disease	BEFREE	22720119		★☆☆☆☆ Found in Text Mining only
Hyperplastic polyposis syndrome	Hyperplastic Polyposis Syndrome	BEFREE	18541388		★☆☆☆☆ Found in Text Mining only
Idiopathic Pulmonary Fibrosis	Idiopathic pulmonary fibrosis	Pubtator	30716719	Associate	★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	BEFREE	21884718		★☆☆☆☆ Found in Text Mining only
Intestinal Neoplasms	Intestinal Neoplasms	BEFREE	17638869		★☆☆☆☆ Found in Text Mining only
Intestinal Polyposis	Intestinal polyposis	Pubtator	12606733, 17122612, 22851115, 23561487, 23805267, 25204323, 26446593, 31527860, 33827469, 34704405, 36356413	Associate	★☆☆☆☆ Found in Text Mining only
Intestinal Polyposis	Intestinal Polyposis	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Juvenile polyposis syndrome	Polyposis Syndrome	BEFREE	17200375, 18541388		★☆☆☆☆ Found in Text Mining only
Kidney Failure Chronic	Kidney failure	Pubtator	22720119	Associate	★☆☆☆☆ Found in Text Mining only
Kidney Failure, Chronic	Kidney Failure	BEFREE	22720119		★☆☆☆☆ Found in Text Mining only
Kidney Neoplasms	Kidney neoplasm	Pubtator	36451132	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia	Leukemia	Pubtator	35350997	Associate	★☆☆☆☆ Found in Text Mining only
Li-Fraumeni Syndrome	Li-Fraumeni Syndrome	BEFREE	26195711		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	16292541, 30218772		★☆☆☆☆ Found in Text Mining only
Liver Diseases	Liver disease	Pubtator	16292541	Associate	★☆☆☆☆ Found in Text Mining only
Liver neoplasms	Liver neoplasms	BEFREE	30218772		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	12056405, 19161591, 23443124, 37885353	Associate	★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	37885353	Stimulate	★☆☆☆☆ Found in Text Mining only
LUSCAN-LUMISH SYNDROME	LUSCAN-LUMISH SYNDROME	BEFREE	24953332		★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	31027119	Associate	★☆☆☆☆ Found in Text Mining only
Lynch Syndrome	Lynch Syndrome	BEFREE	18629513, 19931546, 21287799, 22278153, 24518836, 24953332, 25980754, 27978560, 28197815, 29664240, 29967336, 30324682, 30604180		★☆☆☆☆ Found in Text Mining only
Malignant Childhood Neoplasm	Malignant Neoplasm	BEFREE	31815884		★☆☆☆☆ Found in Text Mining only
Malignant Head and Neck Neoplasm	Head and neck cancer	BEFREE	20571908, 25916209		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	16492928, 18454351, 20191381, 21952991, 22126480, 22297469, 27194394, 27630279, 27870262, 30582135, 31273614, 31575519		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of endometrium	Endometrial Cancer	BEFREE	16408224, 18980800, 27194394		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of gastrointestinal tract	Malignant gastrointestinal tract tumors	BEFREE	16234049		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of liver	Liver Cancer	BEFREE	21171015		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	14579148, 18155253, 19161591, 29209987		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	20110747, 27999205		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	17219200, 27253753		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	15273732, 16929514, 21826668, 22126480		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	HPO_DG			★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	CGI_DG			★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of thyroid	Thyroid cancer	BEFREE	22922830		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of urinary bladder	Urinary bladder cancer	BEFREE	27153553		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	12937124, 14999774, 15366000, 15465463, 15726502, 15943555, 16292541, 16408224, 16890597, 17031395, 17122612, 17200375, 17219200, 17949294, 18564191, 18629513, 19031083, 19394335, 19404084, 19593690, 19793568, 20725929, 20848659, 20939750, 21171015, 21279954, 21355073, 22297469, 22473953, 22641385, 22926731, 23322991, 23507534, 24444654, 25822476, 25980754, 26684191, 27829682, 28502729, 29146522, 29406563, 30653782, 31090900, 31203172		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	16234049, 16771692, 16774938, 18823566, 20110747, 22252118, 22266422, 22658618, 26202870, 27194394, 29915346		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	CTD_human_DG	25030372		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Medulloblastoma	Medulloblastoma	Pubtator	40469416	Associate	★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	21279954, 22687647		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Meningioma	Meningioma	BEFREE	20150366		★☆☆☆☆ Found in Text Mining only
Meningioma	Meningioma	Pubtator	20150366	Associate	★☆☆☆☆ Found in Text Mining only
Mental Depression	Mental Depression	BEFREE	26074017		★☆☆☆☆ Found in Text Mining only
Mesothelioma	Mesothelioma	Pubtator	37556141	Associate	★☆☆☆☆ Found in Text Mining only
Mesothelioma Malignant	Mesothelioma	Pubtator	34008015, 34648949	Associate	★☆☆☆☆ Found in Text Mining only
Mitochondrial Diseases	Mitochondrial disease	Pubtator	30716719	Associate	★☆☆☆☆ Found in Text Mining only
MOHR-TRANEBJAERG SYNDROME	MOHR-TRANEBJAERG SYNDROME	BEFREE	16207212		★☆☆☆☆ Found in Text Mining only
MUTYH-Associate Polyposis	Polyposis	CLINVAR_DG	12606733, 12853198, 15366000, 15890374, 16134147, 16140997, 16557584, 16616356, 16941501, 17161978, 17703316, 17931073, 17949294, 18301448, 18422726, 18495334, 18534194, 18992148, 19032956, 19394335, 19527492, 19725997, 19732775, 19806110, 19836313, 20618354, 20725929, 20848659, 22538434, 22703879, 22865608, 23108399, 23322991, 23361220, 23507534, 23561487, 24278394, 24569162, 24763289, 24799981, 24953332, 25368107, 25820570, 25980754, 26681312, 27705013, 27829682, 28135145, 28141798, 28533537, 29330641, 29478780, 30487145		★☆☆☆☆ Found in Text Mining only
MUTYH-Associate Polyposis	Polyposis	BEFREE	15236166, 15987719, 16042573, 16454848, 16510566, 16890597, 17081686, 17161978, 17524638, 18172263, 18495334, 18515411, 18541388, 18980800, 19013464, 19032956, 19394335, 19414147, 19462419, 19672709, 19953527, 20110747, 20191381, 20418187, 20628285, 20687945, 20724227, 20848659, 21063410, 21235684, 21325953, 21424714, 21962078, 22266422, 22473953, 22538434, 22865608, 22926731, 23007840, 23361220, 23507534, 23561487, 24315136, 24470512, 24569162, 24620956, 24799981, 25820570, 26377631, 27145315, 27705013, 27829682, 28087410, 28127763, 28551381, 29027306, 29105096, 29330641, 29406563, 29746241, 30208271, 30604180, 30698731, 30904095, 31203172		★☆☆☆☆ Found in Text Mining only
MUTYH-related attenuated familial adenomatous polyposis	Adenomatous Polyposis	Orphanet			★☆☆☆☆ Found in Text Mining only
Myeloproliferative disease	Myeloproliferative disorder	BEFREE	28599464		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	11818965, 12937124, 14991577, 15034862, 15083190, 15465463, 15987719, 17031395, 17219200, 17219385, 17638869, 17949294, 18298557, 19527492, 20191381, 20663686, 22641385, 24518836, 25955461, 27631816, 27999205, 28577310, 29105096, 30208271, 30218772, 31377904		★☆☆☆☆ Found in Text Mining only
Neoplastic Syndromes, Hereditary	Hereditary Cancer Syndrome	CLINVAR_DG	11092888, 11801590, 11805113, 12393807, 12606733, 12707038, 12853198, 14633673, 14991577, 15188161, 15236166, 15366000, 15465463, 15635083, 15673720, 15761860, 15890374, 15931596, 16134147, 16140997, 16207212, 16287072, 16338133, 16408224, 16455870, 16557584, 16616356, 16890597, 16941501, 17081686, 17219385, 17369389, 17581577, 17674103, 17703316, 17874208, 17931073, 17949294, 18091433, 18172263, 18301448, 18422726, 18515411, 18534194, 18787472, 19031083, 19032956, 19279422, 19394335, 19506731, 19527492, 19531215, 19725997, 19732775, 19793053, 19806110, 19836313, 19841264, 19953527, 20191381, 20223003, 20418187, 20618354, 20687945, 20816984, 20848659, 21063410, 21171015, 21195604, 21235684, 21952991, 22158503, 22297469, 22473953, 22538434, 22641385, 22703879, 22744763, 22865608, 22926731, 23007840, 23108399, 23322991, 23361220, 23561487, 23605219, 23729658, 24082139, 24444654, 24470512, 24556621, 24569162, 24691292, 24733792, 24799981, 25151137, 25368107, 25525159, 25559809, 25590978, 25820570, 25856671, 25892863, 25931827, 25937855, 25938944, 25980754, 26446593, 26511139, 26681312, 26694661, 26902849, 26976419, 27153395, 27194394, 27253753, 27631816, 27829682, 27870730, 28127763, 28533537, 28873162, 28944238		★☆☆☆☆ Found in Text Mining only
Nervous System Neoplasms	Nervous System Neoplasms	BEFREE	30642852		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	Pubtator	34479993	Associate	★☆☆☆☆ Found in Text Mining only
Neurodegenerative Disorders	Neurodegenerative Disorders	BEFREE	15126288		★☆☆☆☆ Found in Text Mining only
Neuroendocrine Tumors	Neuroendocrine Tumors	BEFREE	28634180		★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	26159902		★☆☆☆☆ Found in Text Mining only
Osteoarthritis	Osteoarthritis	Pubtator	29587570	Associate	★☆☆☆☆ Found in Text Mining only
Ovarian Diseases	Ovarian diseases	Pubtator	34173730	Associate	★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	27194394, 33560870, 34371384, 35443055	Associate	★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	20110747, 27999205		★☆☆☆☆ Found in Text Mining only
Pancreatic Ductal Adenocarcinoma	Pancreatic adenocarcinoma	BEFREE	27999205		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	28199314, 32113160, 32354656, 39256447	Associate	★☆☆☆☆ Found in Text Mining only
Peutz-Jeghers Syndrome	Peutz-Jeghers Syndrome	BEFREE	18541388		★☆☆☆☆ Found in Text Mining only
Pheochromocytoma	Pheochromocytoma	Pubtator	40235160	Associate	★☆☆☆☆ Found in Text Mining only
Pilomatrixoma	Pilomatrixoma	CTD_human_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Pilomatrixoma	Pilomatrixoma	HPO_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Pilomatrixoma	Pilomatrixoma	CLINVAR_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Polycythemia Vera	Polycythemia vera	Pubtator	33414168	Associate	★☆☆☆☆ Found in Text Mining only
Polyp of large intestine	Polyp Of Large Intestine	BEFREE	12915454, 15987719, 16510566, 17122612, 17703316, 19169759, 19279422, 19793568, 20725929, 20848659, 22297469, 22473953, 23007840, 23322991, 23507534, 26377631, 26511139, 29330641, 29367705, 30208271, 30653782, 30904095		★☆☆☆☆ 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	15987719		★☆☆☆☆ Found in Text Mining only
Prostate cancer familial	Prostate cancer	Pubtator	36292577	Associate	★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	17219200, 27253753		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic Neoplasms	LHGDN	17219200		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	27701467, 36292577	Associate	★☆☆☆☆ Found in Text Mining only
Rectal Carcinoma	Rectal Carcinoma	BEFREE	20149637		★☆☆☆☆ Found in Text Mining only
Rectal polyp	Rectal Polyp	HPO_DG			★☆☆☆☆ Found in Text Mining only
Renal fibrosis	Renal fibrosis	BEFREE	26576226		★☆☆☆☆ Found in Text Mining only
Retinoblastoma	Retinoblastoma	Pubtator	31207142	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	26273655, 28173856		★☆☆☆☆ Found in Text Mining only
Rufous oculocutaneous albinism	Rufous oculocutaneous albinism	Pubtator	31027119	Associate	★☆☆☆☆ Found in Text Mining only
Sebaceous Adenocarcinoma	Sebaceous Adenocarcinoma	BEFREE	24518836		★☆☆☆☆ Found in Text Mining only
Sebaceous Gland Neoplasms	Sebaceous gland neoplasms	Pubtator	24518836	Associate	★☆☆☆☆ Found in Text Mining only
Skin Neoplasms	Skin Neoplasms	HPO_DG			★☆☆☆☆ Found in Text Mining only
Skin Neoplasms	Skin Neoplasms	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Small Cell Lung Carcinoma	Small cell lung carcinoma	Pubtator	33504652	Associate	★☆☆☆☆ Found in Text Mining only
Small intestine carcinoid	Intestinal carcinoid	CLINVAR_DG	28634180		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Squamous cell carcinoma	Carcinoma	BEFREE	19161591		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of esophagus	Esophagus Neoplasm	BEFREE	31578574		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of the head and neck	Carcinoma Of The Head And Neck	BEFREE	20571908		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Stomach Carcinoma	Stomach Carcinoma	BEFREE	15273732, 16929514, 21826668, 22126480		★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	UNIPROT_DG	15273732, 25820570		★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	CGI_DG			★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach Neoplasms	CLINVAR_DG	11818965, 18534194, 19032956, 19732775, 19836313, 19953527, 19998059, 20418187, 20848659, 21063410, 21178863, 21952991, 22158503, 22473953, 22703879, 22744763, 22926731, 23108399, 23361220, 23625202, 23805267, 24082139, 24728327		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Stomach Neoplasms	Stomach Neoplasms	LHGDN	15273732		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Stomach Neoplasms	Stomach neoplasms	Pubtator	21171015, 22126480, 27194394	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Stomach Neoplasms	Stomach Neoplasms	CGI_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Stomach Neoplasms	Stomach Neoplasms	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid Cancer Papillary	Papillary thyroid cancer	Pubtator	34173730	Associate	★☆☆☆☆ Found in Text Mining only
Thyroid carcinoma	Thyroid Carcinoma	BEFREE	22922830		★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasm	Thyroid Neoplasm	BEFREE	22922830		★☆☆☆☆ Found in Text Mining only
Torre-Muir syndrome	Torre-Muir Syndrome	BEFREE	16207212, 19998059		★☆☆☆☆ Found in Text Mining only
Trichohepatoenteric Syndrome	Trichohepatoenteric Syndrome	BEFREE	16134147		★☆☆☆☆ Found in Text Mining only
Turcot syndrome	Turcot syndrome	Pubtator	24518836, 27978560	Associate	★☆☆☆☆ Found in Text Mining only
Ulcerative Colitis	Ulcerative colitis	BEFREE	30008864		★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	27153553	Inhibit	★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	27153553, 27194394, 36451132	Associate	★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	31027119	Associate	★☆☆☆☆ Found in Text Mining only
Uveal melanoma	Uveal melanoma	Pubtator	37402954	Associate	★☆☆☆☆ Found in Text Mining only
Wilms Tumor	Wilms tumor	Pubtator	35230882	Associate	★☆☆☆☆ Found in Text Mining only