Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	5395
Gene name	PMS1 homolog 2, mismatch repair system component
Gene symbol	PMS2
Synonyms (NCBI Gene)	HNPCC4LYNCH4MLH4MMRCS4PMS-2PMS2CLPMSL2
Chromosome	7
Chromosome location	7p22.1
Summary	The protein encoded by this gene is a key component of the mismatch repair system that functions to correct DNA mismatches and small insertions and deletions that can occur during DNA replication and homologous recombination. This protein forms heterodime

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SNP ID	Visualize variation	Clinical significance	Consequence
rs1805322	G>A,T	Uncertain-significance, benign-likely-benign, conflicting-interpretations-of-pathogenicity, likely-benign	Upstream transcript variant, intron variant, 5 prime UTR variant, missense variant, non coding transcript variant, coding sequence variant, genic upstream transcript variant
rs2345056	G>A,C	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Genic upstream transcript variant, intron variant
rs3209663	C>A,T	Pathogenic	Intron variant, stop gained, 5 prime UTR variant, missense variant, non coding transcript variant, coding sequence variant, genic upstream transcript variant
rs36038802	G>A,T	Pathogenic	Non coding transcript variant, stop gained, genic upstream transcript variant, 5 prime UTR variant, missense variant, coding sequence variant
rs56203955	T>C,G	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Non coding transcript variant, genic upstream transcript variant, 5 prime UTR variant, missense variant, intron variant, coding sequence variant
rs60794673	AAAA>-,A,AA,AAA,AAAAA,AAAAAA,AAAAAAAAAAA	Conflicting-interpretations-of-pathogenicity, benign, likely-benign, benign-likely-benign	Genic upstream transcript variant, intron variant
rs63750049	T>-	Pathogenic	Frameshift variant, intron variant, non coding transcript variant, coding sequence variant
rs63750106	->T	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs63750123	T>C	Likely-benign, benign, benign-likely-benign, conflicting-interpretations-of-pathogenicity	Intron variant, 5 prime UTR variant, non coding transcript variant, missense variant, genic upstream transcript variant, coding sequence variant
rs63750246	GT>-	Pathogenic	Intron variant, frameshift variant, 5 prime UTR variant, non coding transcript variant, upstream transcript variant, genic upstream transcript variant, coding sequence variant
rs63750250	->T	Pathogenic, pathogenic-likely-pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs63750261	G>A	Pathogenic	Intron variant, 5 prime UTR variant, non coding transcript variant, stop gained, genic upstream transcript variant, coding sequence variant
rs63750451	G>A,C	Uncertain-significance, pathogenic	Missense variant, stop gained, non coding transcript variant, coding sequence variant
rs63750477	T>-	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs63750490	T>A	Pathogenic	Stop gained, non coding transcript variant, coding sequence variant
rs63750649	T>C	Uncertain-significance, benign-likely-benign, conflicting-interpretations-of-pathogenicity	Missense variant, non coding transcript variant, coding sequence variant
rs63750668	C>A,G,T	Benign, uncertain-significance, likely-benign, benign-likely-benign, conflicting-interpretations-of-pathogenicity	Missense variant, non coding transcript variant, coding sequence variant
rs63750685	G>A,C	Likely-benign, benign, benign-likely-benign, conflicting-interpretations-of-pathogenicity	Synonymous variant, missense variant, non coding transcript variant, coding sequence variant
rs63750695	AAGTT>-	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs63750793	T>-	Pathogenic	Frameshift variant, 5 prime UTR variant, non coding transcript variant, genic upstream transcript variant, coding sequence variant
rs63750871	G>A	Pathogenic	5 prime UTR variant, non coding transcript variant, stop gained, genic upstream transcript variant, coding sequence variant
rs63751023	C>A,T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, non coding transcript variant, coding sequence variant
rs63751029	A>-	Pathogenic	Intron variant, non coding transcript variant, stop gained, genic upstream transcript variant, coding sequence variant
rs63751132	A>T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, non coding transcript variant, coding sequence variant
rs63751211	T>A,C	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, non coding transcript variant, coding sequence variant
rs63751228	G>A	Pathogenic	Stop gained, non coding transcript variant, coding sequence variant
rs63751422	G>A	Pathogenic	Stop gained, non coding transcript variant, coding sequence variant
rs63751466	G>A,T	Likely-benign, uncertain-significance, pathogenic	Synonymous variant, stop gained, non coding transcript variant, coding sequence variant
rs111466480	A>C,G	Likely-pathogenic	Intron variant, splice donor variant, genic upstream transcript variant
rs113517055	C>A,T	Likely-pathogenic	Intron variant, splice donor variant, genic upstream transcript variant
rs116349687	A>G	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, non coding transcript variant, genic upstream transcript variant, coding sequence variant, 5 prime UTR variant
rs116373169	G>A,T	Benign-likely-benign, pathogenic, uncertain-significance, likely-benign, conflicting-interpretations-of-pathogenicity	Missense variant, non coding transcript variant, genic upstream transcript variant, coding sequence variant, 5 prime UTR variant, stop gained
rs121434629	C>A,T	Pathogenic-likely-pathogenic, pathogenic, likely-pathogenic	Missense variant, intron variant, non coding transcript variant, genic upstream transcript variant, coding sequence variant, 5 prime UTR variant
rs121434630	A>T	Pathogenic	Missense variant, non coding transcript variant, genic upstream transcript variant, coding sequence variant, 5 prime UTR variant, stop gained
rs139194813	C>T	Likely-benign, conflicting-interpretations-of-pathogenicity	Non coding transcript variant, initiator codon variant, missense variant, coding sequence variant
rs139438201	T>C	Likely-benign, benign, uncertain-significance, conflicting-interpretations-of-pathogenicity	Non coding transcript variant, missense variant, coding sequence variant
rs141084758	T>C	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Non coding transcript variant, coding sequence variant, missense variant
rs141577476	G>A,T	Pathogenic, uncertain-significance	Intron variant, coding sequence variant, missense variant, genic upstream transcript variant, non coding transcript variant, stop gained, 5 prime UTR variant
rs141769057	C>A,G,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Non coding transcript variant, intron variant, coding sequence variant, missense variant
rs142506484	T>C	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Non coding transcript variant, coding sequence variant, missense variant
rs143235330	T>C	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Non coding transcript variant, coding sequence variant, missense variant
rs143277125	G>A,T	Pathogenic, uncertain-significance	Non coding transcript variant, stop gained, coding sequence variant, missense variant
rs144389038	T>C	Likely-benign, conflicting-interpretations-of-pathogenicity, uncertain-significance	Non coding transcript variant, coding sequence variant, missense variant
rs146176004	C>G	Uncertain-significance, conflicting-interpretations-of-pathogenicity, likely-benign	Intron variant, coding sequence variant, missense variant, genic upstream transcript variant, non coding transcript variant, 5 prime UTR variant
rs146848345	C>G,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Non coding transcript variant, coding sequence variant, missense variant
rs148069478	T>C,G	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Non coding transcript variant, coding sequence variant, missense variant
rs150201462	C>A,T	Uncertain-significance, conflicting-interpretations-of-pathogenicity, likely-benign	Non coding transcript variant, coding sequence variant, missense variant
rs188006077	G>A	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Intron variant, 5 prime UTR variant, non coding transcript variant, missense variant, coding sequence variant, genic upstream transcript variant
rs199700509	T>C	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant, non coding transcript variant
rs199739859	C>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, coding sequence variant, non coding transcript variant
rs199943748	G>A,C	Conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign	Synonymous variant, missense variant, coding sequence variant, non coding transcript variant
rs200513014	T>A,C	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant, non coding transcript variant, intron variant
rs200591010	G>A,C	Conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign	Missense variant, coding sequence variant, genic upstream transcript variant, intron variant
rs200640585	G>A	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs201343342	A>G	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Intron variant, 5 prime UTR variant, non coding transcript variant, missense variant, coding sequence variant, genic upstream transcript variant
rs201395630	C>A	Uncertain-significance, conflicting-interpretations-of-pathogenicity	5 prime UTR variant, non coding transcript variant, missense variant, coding sequence variant, genic upstream transcript variant
rs201451115	T>A	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs201671325	C>T	Benign-likely-benign, conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, coding sequence variant, non coding transcript variant
rs267608147	C>A,G,T	Likely-pathogenic	Splice donor variant, genic upstream transcript variant, intron variant
rs267608148	->A	Pathogenic	Frameshift variant, intron variant, 5 prime UTR variant, coding sequence variant, genic upstream transcript variant, non coding transcript variant
rs267608149	->A	Pathogenic	Frameshift variant, 5 prime UTR variant, coding sequence variant, genic upstream transcript variant, non coding transcript variant
rs267608150	AGGGGG>CTTCACAAC,CTTCACACACA,NNNNNNNNNNN	Pathogenic, uncertain-significance	Frameshift variant, 5 prime UTR variant, coding sequence variant, inframe indel, genic upstream transcript variant, non coding transcript variant, stop gained
rs267608153	C>A,T	Likely-pathogenic, pathogenic-likely-pathogenic, pathogenic	Missense variant, intron variant, 5 prime UTR variant, coding sequence variant, synonymous variant, genic upstream transcript variant, non coding transcript variant, upstream transcript variant
rs267608154	CTGTCTGT>-,CTGT	Pathogenic	Frameshift variant, intron variant, 5 prime UTR variant, coding sequence variant, genic upstream transcript variant, non coding transcript variant, upstream transcript variant
rs267608156	->A	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant, intron variant
rs267608158	A>T	Likely-pathogenic, pathogenic	Splice donor variant, intron variant
rs267608159	TTT>-,TTTT,TTTTTT	Pathogenic	Frameshift variant, coding sequence variant, inframe deletion, non coding transcript variant, inframe insertion
rs267608160	GAAG>-	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs267608161	C>A,T	Likely-pathogenic, pathogenic-likely-pathogenic, pathogenic, uncertain-significance	Non coding transcript variant, missense variant, coding sequence variant, stop gained
rs267608167	T>C	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Non coding transcript variant, missense variant, coding sequence variant
rs267608169	T>A	Pathogenic	Non coding transcript variant, coding sequence variant, stop gained
rs267608170	C>T	Likely-pathogenic	Splice acceptor variant
rs267608172	C>A,G,T	Pathogenic	Splice donor variant
rs267608173	TTCT>-	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs368516768	C>G	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Non coding transcript variant, missense variant, coding sequence variant
rs370236216	A>G	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Non coding transcript variant, missense variant, coding sequence variant
rs370853512	T>A,C	Conflicting-interpretations-of-pathogenicity, likely-benign, uncertain-significance	Non coding transcript variant, missense variant, coding sequence variant
rs371011390	G>A,C	Conflicting-interpretations-of-pathogenicity, not-provided	Missense variant, 5 prime UTR variant, coding sequence variant, synonymous variant, genic upstream transcript variant, non coding transcript variant
rs373114291	C>A	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Non coding transcript variant, missense variant, coding sequence variant
rs373611083	C>G,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Non coding transcript variant, missense variant, coding sequence variant
rs373885654	C>G,T	Likely-pathogenic, pathogenic	Splice donor variant, intron variant
rs374704824	C>G,T	Conflicting-interpretations-of-pathogenicity, benign, uncertain-significance	Missense variant, intron variant, 5 prime UTR variant, coding sequence variant, genic upstream transcript variant, non coding transcript variant
rs375289386	T>C	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, intron variant, coding sequence variant, genic upstream transcript variant, non coding transcript variant
rs376142390	C>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Non coding transcript variant, missense variant, coding sequence variant
rs376258383	C>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, intron variant, 5 prime UTR variant, coding sequence variant, genic upstream transcript variant, non coding transcript variant
rs376449640	T>C	Conflicting-interpretations-of-pathogenicity, likely-benign, uncertain-significance	Genic upstream transcript variant, intron variant
rs377043696	C>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Non coding transcript variant, missense variant, coding sequence variant
rs528499793	C>T	Conflicting-interpretations-of-pathogenicity, likely-benign	Non coding transcript variant, synonymous variant, coding sequence variant, intron variant
rs530021751	A>G	Conflicting-interpretations-of-pathogenicity	Non coding transcript variant, initiator codon variant, missense variant, coding sequence variant
rs533551639	C>A,T	Conflicting-interpretations-of-pathogenicity, likely-benign	Intron variant
rs540287433	C>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, non coding transcript variant, missense variant
rs567102013	T>C	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, coding sequence variant, non coding transcript variant, intron variant
rs573125799	G>A,T	Benign, likely-benign, pathogenic	Genic upstream transcript variant, coding sequence variant, non coding transcript variant, 5 prime UTR variant, synonymous variant, stop gained
rs576055272	G>T	Conflicting-interpretations-of-pathogenicity, benign-likely-benign, uncertain-significance	Coding sequence variant, non coding transcript variant, missense variant
rs587776715	C>-	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs587778617	G>A	Not-provided, pathogenic, likely-pathogenic	Coding sequence variant, stop gained, non coding transcript variant
rs587778618	G>A,T	Not-provided, likely-benign, pathogenic, uncertain-significance	Coding sequence variant, stop gained, non coding transcript variant, synonymous variant
rs587779324	T>C	Likely-pathogenic	Genic upstream transcript variant, splice acceptor variant
rs587779326	AT>TAAA	Pathogenic	Coding sequence variant, intron variant, frameshift variant, non coding transcript variant
rs587779328	G>A,T	Conflicting-interpretations-of-pathogenicity, likely-benign, uncertain-significance	Coding sequence variant, non coding transcript variant, missense variant
rs587779329	A>G	Likely-pathogenic	Genic upstream transcript variant, intron variant, splice donor variant
rs587779330	->T	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs587779335	AG>-	Uncertain-significance, conflicting-interpretations-of-pathogenicity, pathogenic, likely-pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs587779336	->CA	Pathogenic	Genic upstream transcript variant, coding sequence variant, initiator codon variant, non coding transcript variant, 5 prime UTR variant, frameshift variant
rs587779337	C>A,T	Likely-pathogenic, uncertain-significance	Coding sequence variant, non coding transcript variant, missense variant
rs587779338	G>A	Uncertain-significance, likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs587779340	T>A,C,G	Pathogenic, likely-pathogenic, pathogenic-likely-pathogenic	Genic upstream transcript variant, intron variant, splice acceptor variant
rs587779342	T>G	Conflicting-interpretations-of-pathogenicity, likely-pathogenic, uncertain-significance	Genic upstream transcript variant, coding sequence variant, intron variant, non coding transcript variant, 5 prime UTR variant, missense variant
rs587779343	G>A,C	Pathogenic, uncertain-significance	Genic upstream transcript variant, coding sequence variant, intron variant, non coding transcript variant, 5 prime UTR variant, stop gained, missense variant
rs587779344	GG>C,G	Pathogenic	Genic upstream transcript variant, coding sequence variant, non coding transcript variant, 5 prime UTR variant, frameshift variant
rs587779347	T>C	Pathogenic, likely-pathogenic	Intron variant, splice acceptor variant
rs587780039	G>A	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, non coding transcript variant, missense variant
rs587780044	C>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, non coding transcript variant, missense variant
rs587780046	G>A,C	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, non coding transcript variant, missense variant
rs587780062	G>A,C	Conflicting-interpretations-of-pathogenicity, pathogenic, uncertain-significance	Genic upstream transcript variant, upstream transcript variant, coding sequence variant, intron variant, non coding transcript variant, 5 prime UTR variant, stop gained, missense variant
rs587780064	C>A	Pathogenic	Intron variant, splice acceptor variant
rs587780722	T>C	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, non coding transcript variant, missense variant
rs587780724	G>C,T	Pathogenic, likely-pathogenic	Coding sequence variant, stop gained, non coding transcript variant
rs587780725	TC>CT	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, non coding transcript variant, missense variant
rs587781317	C>G	Uncertain-significance, likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs587781339	T>C,G	Likely-pathogenic, pathogenic-likely-pathogenic	Splice acceptor variant
rs587781395	T>-	Pathogenic	Coding sequence variant, intron variant, frameshift variant, non coding transcript variant
rs587781626	AT>C	Pathogenic, likely-pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs587781716	C>-,CC	Pathogenic	Genic upstream transcript variant, coding sequence variant, intron variant, non coding transcript variant, 5 prime UTR variant, frameshift variant
rs587782175	C>A,T	Pathogenic, uncertain-significance	Coding sequence variant, stop gained, non coding transcript variant, missense variant
rs587782336	T>G	Pathogenic, likely-pathogenic	Splice acceptor variant
rs587782602	G>A,T	Pathogenic, uncertain-significance	Coding sequence variant, stop gained, non coding transcript variant, missense variant
rs587782632	G>A	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, intron variant, genic upstream transcript variant, synonymous variant
rs587782704	T>-	Not-provided, pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs587782710	GGAGTCAC>-	Pathogenic	Genic upstream transcript variant, coding sequence variant, non coding transcript variant, 5 prime UTR variant, frameshift variant
rs587782898	G>A,C	Pathogenic, uncertain-significance	Genic upstream transcript variant, upstream transcript variant, coding sequence variant, intron variant, non coding transcript variant, 5 prime UTR variant, stop gained, missense variant
rs730881914	G>A,T	Pathogenic, uncertain-significance	Genic upstream transcript variant, coding sequence variant, non coding transcript variant, 5 prime UTR variant, stop gained, missense variant
rs730881919	C>A,G,T	Uncertain-significance, pathogenic, likely-pathogenic	Genic upstream transcript variant, coding sequence variant, non coding transcript variant, 5 prime UTR variant, stop gained, missense variant
rs730881920	GG>CA,CC,CT	Conflicting-interpretations-of-pathogenicity, pathogenic, uncertain-significance	Genic upstream transcript variant, coding sequence variant, non coding transcript variant, 5 prime UTR variant, stop gained, missense variant
rs745487791	T>A,C,G	Likely-pathogenic	Genic upstream transcript variant, splice acceptor variant
rs745763201	C>-	Likely-pathogenic	Genic upstream transcript variant, coding sequence variant, non coding transcript variant, 5 prime UTR variant, frameshift variant
rs746766787	AG>-	Pathogenic	5 prime UTR variant, non coding transcript variant, frameshift variant, intron variant, coding sequence variant, genic upstream transcript variant
rs746889239	C>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Intron variant, coding sequence variant, non coding transcript variant, missense variant
rs748518694	G>A	Conflicting-interpretations-of-pathogenicity, uncertain-significance	5 prime UTR variant, synonymous variant, non coding transcript variant, intron variant, coding sequence variant, genic upstream transcript variant
rs749485884	A>G	Conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign	Intron variant, genic upstream transcript variant
rs749727182	C>G	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, non coding transcript variant, missense variant
rs752950007	G>A,C	Conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign	Coding sequence variant, non coding transcript variant, missense variant, synonymous variant
rs753199796	C>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, non coding transcript variant, synonymous variant
rs753256070	AG>-	Likely-pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs756420858	C>A,G,T	Conflicting-interpretations-of-pathogenicity, likely-benign	5 prime UTR variant, synonymous variant, non coding transcript variant, intron variant, coding sequence variant, genic upstream transcript variant
rs756653193	->CTTCA,CTTCACACAC	Likely-pathogenic	Non coding transcript variant, genic upstream transcript variant, coding sequence variant, stop gained, 5 prime UTR variant, frameshift variant
rs757324104	G>A,T	Likely-benign, pathogenic	Upstream transcript variant, non coding transcript variant, synonymous variant, genic upstream transcript variant, intron variant, coding sequence variant, stop gained, 5 prime UTR variant
rs757679199	TGAC>-	Pathogenic	Intron variant, coding sequence variant, frameshift variant, non coding transcript variant
rs757989905	C>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Non coding transcript variant, coding sequence variant, missense variant
rs758018736	G>A,C	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Non coding transcript variant, coding sequence variant, missense variant
rs758304323	T>C	Pathogenic-likely-pathogenic, likely-pathogenic, pathogenic	Intron variant, genic upstream transcript variant, splice acceptor variant
rs758561884	G>A,C	Likely-pathogenic, uncertain-significance	Missense variant, non coding transcript variant, genic upstream transcript variant, coding sequence variant, 5 prime UTR variant
rs759151952	G>-,GG	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs760228510	G>A,C	Uncertain-significance, pathogenic	Missense variant, non coding transcript variant, genic upstream transcript variant, intron variant, coding sequence variant, stop gained, 5 prime UTR variant
rs760629688	T>C	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Non coding transcript variant, coding sequence variant, missense variant
rs762387250	G>A,C,T	Likely-benign, uncertain-significance, pathogenic	Missense variant, non coding transcript variant, synonymous variant, genic upstream transcript variant, intron variant, coding sequence variant, stop gained, 5 prime UTR variant
rs763308607	C>G,T	Likely-pathogenic	Genic upstream transcript variant, splice acceptor variant
rs763959308	T>C,G	Likely-benign, conflicting-interpretations-of-pathogenicity, uncertain-significance	Intron variant
rs764171734	C>A,G	Likely-pathogenic	Intron variant, genic upstream transcript variant, splice acceptor variant
rs764342199	G>A,C	Pathogenic	Non coding transcript variant, coding sequence variant, missense variant, stop gained
rs766373982	C>G,T	Conflicting-interpretations-of-pathogenicity	Intron variant, genic upstream transcript variant
rs766389591	T>-	Likely-pathogenic, pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs766667186	A>G	Likely-benign, conflicting-interpretations-of-pathogenicity	Non coding transcript variant, synonymous variant, genic upstream transcript variant, coding sequence variant, 5 prime UTR variant
rs767028531	G>T	Pathogenic	Coding sequence variant, genic upstream transcript variant, intron variant, 5 prime UTR variant, non coding transcript variant, stop gained
rs769742496	A>-	Pathogenic	Coding sequence variant, genic upstream transcript variant, 5 prime UTR variant, non coding transcript variant, frameshift variant
rs773174603	T>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs774583397	C>A,G,T	Pathogenic, likely-pathogenic	Splice acceptor variant
rs778531080	C>A,T	Pathogenic, uncertain-significance	Coding sequence variant, non coding transcript variant, missense variant, stop gained
rs781078805	T>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs786201039	C>A,T	Pathogenic, likely-pathogenic, uncertain-significance	Coding sequence variant, non coding transcript variant, missense variant, stop gained
rs786201047	G>C	Pathogenic	Intron variant, upstream transcript variant, coding sequence variant, non coding transcript variant, genic upstream transcript variant, 5 prime UTR variant, stop gained
rs786201062	T>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs786201508	A>G	Conflicting-interpretations-of-pathogenicity, likely-benign	Intron variant, coding sequence variant, non coding transcript variant, synonymous variant, genic upstream transcript variant, 5 prime UTR variant
rs786201878	A>G,T	Uncertain-significance, likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant, 5 prime UTR variant
rs786202098	T>C	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant, genic upstream transcript variant, splice acceptor variant
rs786203073	A>-	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs786203954	C>T	Pathogenic	Coding sequence variant, missense variant, genic upstream transcript variant, splice acceptor variant
rs786204104	G>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs863224450	C>G,T	Likely-pathogenic	Genic upstream transcript variant, splice donor variant
rs863224496	T>A,C	Pathogenic, uncertain-significance	Coding sequence variant, non coding transcript variant, missense variant, stop gained
rs863224497	C>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs863224498	AA>-,AAA	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs863224676	TACTAACTC>-	Uncertain-significance, likely-pathogenic	Intron variant, inframe deletion, coding sequence variant, non coding transcript variant, genic upstream transcript variant, 5 prime UTR variant
rs864622600	->T	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs869320619	T>C	Pathogenic, likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs876658862	G>A	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs876658863	C>A,T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, non coding transcript variant, missense variant
rs876658964	G>-	Pathogenic, likely-pathogenic	Intron variant, upstream transcript variant, coding sequence variant, non coding transcript variant, genic upstream transcript variant, 5 prime UTR variant, stop gained
rs876659162	G>A,C,T	Uncertain-significance, pathogenic, likely-benign	Coding sequence variant, non coding transcript variant, synonymous variant, stop gained, missense variant
rs876659480	G>A	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs876659736	T>A,C	Uncertain-significance, likely-pathogenic	Intron variant, upstream transcript variant, coding sequence variant, non coding transcript variant, synonymous variant, genic upstream transcript variant, 5 prime UTR variant, missense variant
rs876659900	G>A	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs876660075	C>-	Likely-pathogenic	Coding sequence variant, non coding transcript variant, splice donor variant
rs876660459	ACGGAAGTGCT>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs876661042	AT>-	Likely-pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs876661113	C>A,G,T	Pathogenic, likely-pathogenic	Splice donor variant
rs876661203	C>T	Likely-pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs876661256	G>A,C	Pathogenic, uncertain-significance	Coding sequence variant, non coding transcript variant, missense variant, stop gained
rs878854037	C>A,G	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant, stop gained
rs878854059	A>G	Likely-pathogenic	Intron variant, genic upstream transcript variant, splice donor variant, upstream transcript variant
rs878854060	GT>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs886039615	GCATCCAG>-	Likely-pathogenic, pathogenic	Intron variant, genic upstream transcript variant, coding sequence variant, 5 prime UTR variant, non coding transcript variant, frameshift variant
rs886039646	A>-	Pathogenic, conflicting-interpretations-of-pathogenicity, likely-pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs886039709	T>C	Likely-pathogenic	Splice acceptor variant
rs939641251	C>T	Uncertain-significance, likely-pathogenic	Intron variant, genic upstream transcript variant
rs988423880	C>G	Likely-pathogenic, pathogenic	Genic upstream transcript variant, splice acceptor variant, intron variant
rs1057515571	C>-	Pathogenic	Genic upstream transcript variant, 5 prime UTR variant, upstream transcript variant, frameshift variant, coding sequence variant, non coding transcript variant, intron variant
rs1057515572	GC>ACT	Pathogenic, likely-pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs1057517801	T>-	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs1057524433	G>A	Pathogenic	Stop gained, non coding transcript variant, coding sequence variant
rs1060503110	A>C,T	Pathogenic	Stop gained, non coding transcript variant, coding sequence variant
rs1060503137	TA>-	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs1060503138	G>A	Pathogenic	Stop gained, non coding transcript variant, coding sequence variant
rs1060503142	T>A	Pathogenic	Stop gained, non coding transcript variant, coding sequence variant
rs1060503148	T>-	Pathogenic	Genic upstream transcript variant, 5 prime UTR variant, frameshift variant, coding sequence variant, non coding transcript variant, intron variant
rs1064793234	CT>-	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs1064793365	A>-	Pathogenic	Genic upstream transcript variant, 5 prime UTR variant, frameshift variant, coding sequence variant, non coding transcript variant
rs1064793868	C>-	Pathogenic	Splice donor variant, genic upstream transcript variant, 5 prime UTR variant, coding sequence variant, non coding transcript variant
rs1064794083	A>C	Pathogenic	Stop gained, genic upstream transcript variant, 5 prime UTR variant, coding sequence variant, non coding transcript variant, synonymous variant
rs1064794152	A>-	Pathogenic	Genic upstream transcript variant, 5 prime UTR variant, frameshift variant, coding sequence variant, non coding transcript variant, intron variant
rs1064794173	C>-	Pathogenic	Genic upstream transcript variant, 5 prime UTR variant, frameshift variant, coding sequence variant, non coding transcript variant, intron variant
rs1064794566	T>-,TT	Pathogenic, likely-pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs1064794577	C>A,T	Uncertain-significance, pathogenic, likely-pathogenic	Stop gained, non coding transcript variant, coding sequence variant, missense variant
rs1064794905	AC>-	Pathogenic-likely-pathogenic, pathogenic	Stop gained, genic upstream transcript variant, 5 prime UTR variant, coding sequence variant, inframe indel, non coding transcript variant
rs1064795345	CTCGAAA>-	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs1064795447	CA>-	Pathogenic	Genic upstream transcript variant, 5 prime UTR variant, frameshift variant, coding sequence variant, non coding transcript variant, intron variant
rs1064795705	C>T	Likely-pathogenic	Genic upstream transcript variant, splice donor variant, intron variant
rs1064796190	C>A	Pathogenic	Stop gained, genic upstream transcript variant, 5 prime UTR variant, coding sequence variant, non coding transcript variant, intron variant
rs1064796500	G>-	Pathogenic, likely-pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs1224505288	G>A,T	Pathogenic	Genic upstream transcript variant, synonymous variant, non coding transcript variant, coding sequence variant, 5 prime UTR variant, stop gained
rs1229860023	G>A,T	Uncertain-significance, likely-benign, conflicting-interpretations-of-pathogenicity	Genic upstream transcript variant, intron variant
rs1231406078	->A	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs1243063129	C>A,T	Uncertain-significance, pathogenic	Coding sequence variant, stop gained, non coding transcript variant, missense variant
rs1261282733	A>-	Likely-pathogenic	Intron variant, genic upstream transcript variant, coding sequence variant, 5 prime UTR variant, frameshift variant, non coding transcript variant, upstream transcript variant
rs1304634005	T>A,C	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant, non coding transcript variant
rs1325835006	T>C	Likely-pathogenic	Splice acceptor variant
rs1437858319	G>A	Pathogenic	Coding sequence variant, intron variant, stop gained, non coding transcript variant
rs1458321358	G>A	Likely-pathogenic, pathogenic	Genic upstream transcript variant, non coding transcript variant, 5 prime UTR variant, stop gained, coding sequence variant
rs1461669945	G>A,C	Pathogenic	Non coding transcript variant, stop gained, missense variant, coding sequence variant
rs1554292684	TCAGTTCTGAGAAATGACACCCAGGTTGGCGATGTGTCTCATGGTTGGCCTTCCATGGGGACAGTTCCAGGGGTGGTCCATCTCCCCCATGTGGGTGATCAGTTTCTTCATCTCGCTTGTGTTAAGAGCAGTCCCAATCATCAC>-	Pathogenic	Inframe deletion, stop lost, non coding transcript variant, terminator codon variant
rs1554292741	T>A,C	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant, non coding transcript variant
rs1554292880	->T	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1554293810	G>A	Pathogenic	Coding sequence variant, stop gained, non coding transcript variant
rs1554293920	C>A	Pathogenic	Coding sequence variant, stop gained, non coding transcript variant
rs1554293959	CCAGT>TCAGC	Pathogenic	Coding sequence variant, stop gained, non coding transcript variant
rs1554293975	->A	Pathogenic	Coding sequence variant, stop gained, non coding transcript variant
rs1554293991	T>A	Pathogenic	Coding sequence variant, stop gained, intron variant
rs1554294019	T>G	Likely-pathogenic	Missense variant, splice acceptor variant, coding sequence variant, intron variant
rs1554294393	C>A,G,T	Pathogenic, likely-pathogenic	Splice donor variant
rs1554294448	T>A	Pathogenic	Coding sequence variant, stop gained, non coding transcript variant
rs1554294505	A>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1554294508	AGT>C	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1554295967	C>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1554297040	C>G,T	Likely-pathogenic	Splice donor variant
rs1554297058	CT>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1554297061	C>A	Pathogenic	Coding sequence variant, stop gained, non coding transcript variant
rs1554297082	A>T	Pathogenic	Coding sequence variant, stop gained, non coding transcript variant
rs1554297125	G>A	Likely-pathogenic	Coding sequence variant, stop gained, non coding transcript variant
rs1554297153	GCTA>CCT	Pathogenic	Coding sequence variant, stop gained, non coding transcript variant, inframe indel
rs1554297164	A>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1554297285	T>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1554297342	G>A	Pathogenic	Coding sequence variant, stop gained, non coding transcript variant
rs1554297488	G>A	Pathogenic	Coding sequence variant, stop gained, non coding transcript variant
rs1554297523	T>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1554297534	->G	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1554297564	G>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1554297636	G>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1554297764	CACT>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1554297781	G>ATCTCAGGACGCCTTTGTCAGAGATGGCACCTGAAGTGCTAGAAGAC	Pathogenic	Coding sequence variant, stop gained, non coding transcript variant, inframe indel
rs1554297877	C>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1554297962	GAGAA>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1554298056	->T	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1554298067	T>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1554298082	A>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1554298087	A>C	Pathogenic	Coding sequence variant, stop gained, non coding transcript variant
rs1554298741	C>-	Pathogenic	Coding sequence variant, intron variant, non coding transcript variant, frameshift variant
rs1554298756	C>-	Pathogenic	Coding sequence variant, intron variant, non coding transcript variant, frameshift variant
rs1554298786	G>A	Pathogenic	Coding sequence variant, stop gained, intron variant, non coding transcript variant
rs1554299430	GTGGTAGACCTC>T	Pathogenic	5 prime UTR variant, coding sequence variant, non coding transcript variant, frameshift variant
rs1554300689	C>A,G	Likely-pathogenic	Upstream transcript variant, genic upstream transcript variant, intron variant, splice donor variant
rs1554300763	->T	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant, upstream transcript variant, 5 prime UTR variant, intron variant, genic upstream transcript variant
rs1554301486	AG>-	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant, 5 prime UTR variant, genic upstream transcript variant
rs1554301495	AGGGGGCAG>CTTCACAACACAGC,CTTCACAGCACAGC	Likely-pathogenic	Coding sequence variant, non coding transcript variant, inframe indel, 5 prime UTR variant, genic upstream transcript variant, stop gained
rs1554301561	T>-	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant, 5 prime UTR variant, genic upstream transcript variant
rs1554303861	T>A	Pathogenic	Coding sequence variant, non coding transcript variant, 5 prime UTR variant, genic upstream transcript variant, stop gained
rs1554304745	->GA	Likely-pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant, 5 prime UTR variant, intron variant, genic upstream transcript variant
rs1554304940	->TTAA	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant, inframe insertion, 5 prime UTR variant, genic upstream transcript variant, stop gained
rs1554304957	G>-	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant, 5 prime UTR variant, genic upstream transcript variant
rs1554304974	C>-	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant, 5 prime UTR variant, genic upstream transcript variant, stop gained
rs1554304979	C>G,T	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant, non coding transcript variant, 5 prime UTR variant, genic upstream transcript variant, stop gained
rs1554306288	->TAAT	Pathogenic	Coding sequence variant, non coding transcript variant, inframe indel, 5 prime UTR variant, intron variant, genic upstream transcript variant, stop gained
rs1554306353	T>G	Likely-pathogenic	Coding sequence variant, missense variant, non coding transcript variant, 5 prime UTR variant, intron variant, genic upstream transcript variant
rs1554306391	->CCTT	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant, 5 prime UTR variant, intron variant, genic upstream transcript variant
rs1554306445	CTTAGACTCAGTACCACCTGCCCAGAGCAAATCTGATGGACTGACTTCCGATCAATAGGTTTGATGGCCTTAGCAGGTTCTGTACTAGAGAAATCA>ATTT	Pathogenic	Coding sequence variant, splice acceptor variant, non coding transcript variant, 5 prime UTR variant, intron variant, genic upstream transcript variant
rs1554306528	G>A	Pathogenic	Coding sequence variant, non coding transcript variant, 5 prime UTR variant, intron variant, genic upstream transcript variant, stop gained
rs1554306605	A>-	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant, 5 prime UTR variant, intron variant, genic upstream transcript variant
rs1562598658	GAGTCTCGCTCTGTCGCCCAGGTTGGAGTGCAGTGGTATGAACTTGGCTCACTGCAAGTTCCGCCTTCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTATAGGCGCCCGACACCACGCCCGGCTAATTTTTTTGTATTTTTAGTAGAGACGGGCTTTCACCATGTTAGCCAGGATGGTCTCGATCTCCTGAACTCGTGATCCGCCCGCCTCAGCTTCCCAAAGTGCTGGGATTAGAGG	Pathogenic	Coding sequence variant, splice donor variant, intron variant, non coding transcript variant
rs1562604682	A>G	Likely-pathogenic	Splice donor variant
rs1562605623	C>G	Likely-pathogenic	Splice acceptor variant
rs1562614946	CTGCTGCAGCATCTC>TATACGA	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1562616355	CTGC>GTGT	Likely-pathogenic	Splice acceptor variant, intron variant
rs1562626011	GTGCT>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1562626070	G>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1562626121	T>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1562626204	ATGATGTAACT>TTTA	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1562629003	T>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1562632035	CCGAGTCCTTCTCC>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1562633172	T>A	Likely-pathogenic	Coding sequence variant, stop gained, non coding transcript variant
rs1562633331	GACGCCTTTGTCAGAGATGGCACCTGAAGTGCTAGAAGACAGCATACCCCTTTTCTGTCCTAGAGGG>-	Likely-pathogenic	Coding sequence variant, stop gained, non coding transcript variant
rs1562634268	T>-	Likely-pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1562634737	->T	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1562635799	->A	Pathogenic	Coding sequence variant, stop gained, non coding transcript variant
rs1562636427	T>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1562644987	T>-	Pathogenic	Coding sequence variant, intron variant, non coding transcript variant, frameshift variant
rs1562651617	A>C,T	Pathogenic	Coding sequence variant, stop gained, non coding transcript variant
rs1562664549	G>-	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant, upstream transcript variant, 5 prime UTR variant, intron variant, genic upstream transcript variant
rs1562664845	C>T	Likely-pathogenic, uncertain-significance	Upstream transcript variant, splice acceptor variant, intron variant, genic upstream transcript variant
rs1562669585	C>A	Likely-pathogenic	Genic upstream transcript variant, splice donor variant
rs1562671039	G>A	Pathogenic	Coding sequence variant, non coding transcript variant, 5 prime UTR variant, genic upstream transcript variant, stop gained
rs1562677687	->GATA	Likely-pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant, 5 prime UTR variant, intron variant, genic upstream transcript variant
rs1562678257	G>A	Pathogenic	Coding sequence variant, non coding transcript variant, 5 prime UTR variant, intron variant, genic upstream transcript variant, stop gained
rs1562689635	G>-	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant, 5 prime UTR variant, genic upstream transcript variant
rs1562690527	G>A,T	Likely-pathogenic, likely-benign	Coding sequence variant, synonymous variant, non coding transcript variant, 5 prime UTR variant, genic upstream transcript variant, stop gained
rs1583269216	C>A	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs1583270185	G>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1583285344	C>A	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs1583285552	C>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1583286301	->T	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1583299686	C>A	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs1583316404	G>-	Likely-pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1583318494	T>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1583319050	C>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1583320992	A>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1583321194	->A	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1583334346	TT>-	Pathogenic	Coding sequence variant, non coding transcript variant, intron variant, frameshift variant
rs1583363851	G>A	Pathogenic	Non coding transcript variant, coding sequence variant, intron variant, genic upstream transcript variant, 5 prime UTR variant, upstream transcript variant, stop gained
rs1583374404	TT>-	Pathogenic	Non coding transcript variant, coding sequence variant, genic upstream transcript variant, 5 prime UTR variant, frameshift variant
rs1583374436	CACACA>AACACACG	Pathogenic	Non coding transcript variant, coding sequence variant, genic upstream transcript variant, 5 prime UTR variant, frameshift variant
rs1583374709	A>-	Pathogenic, likely-pathogenic	Non coding transcript variant, coding sequence variant, genic upstream transcript variant, 5 prime UTR variant, frameshift variant
rs1583375062	G>-	Pathogenic	Non coding transcript variant, coding sequence variant, genic upstream transcript variant, 5 prime UTR variant, frameshift variant
rs1583375132	A>-	Likely-pathogenic	Non coding transcript variant, coding sequence variant, genic upstream transcript variant, 5 prime UTR variant, frameshift variant
rs1583375182	->AATGAGG	Pathogenic	Non coding transcript variant, coding sequence variant, genic upstream transcript variant, 5 prime UTR variant, frameshift variant
rs1583403114	TGGGGC>CGGGG	Pathogenic	Non coding transcript variant, coding sequence variant, genic upstream transcript variant, 5 prime UTR variant, frameshift variant
rs1583410315	TCTT>-	Pathogenic	Non coding transcript variant, coding sequence variant, genic upstream transcript variant, 5 prime UTR variant, frameshift variant
rs1583410952	CCTTAAGCTTTAGATCTAGAAAGT>GGATC	Likely-pathogenic	Non coding transcript variant, splice acceptor variant, coding sequence variant, intron variant, genic upstream transcript variant, 5 prime UTR variant
rs1583418616	GT>-	Pathogenic	Non coding transcript variant, coding sequence variant, intron variant, genic upstream transcript variant, 5 prime UTR variant, frameshift variant
rs1583419860	T>C	Likely-pathogenic	Splice acceptor variant, genic upstream transcript variant, intron variant

Show/Hide all (12)

miRTarBase ID	miRNA	Experiments	Reference
MIRT048727	hsa-miR-96-5p	CLASH	23622248
MIRT043223	hsa-miR-324-5p	CLASH	23622248
MIRT736983	hsa-miR-4328	MicroarrayImmunohistochemistry (IHC)	32170146
MIRT2072356	hsa-miR-4455	CLIP-seq
MIRT2072357	hsa-miR-4506	CLIP-seq
MIRT2072358	hsa-miR-4694-3p	CLIP-seq
MIRT2072359	hsa-miR-513c	CLIP-seq
MIRT2072360	hsa-miR-514b-5p	CLIP-seq
MIRT2072361	hsa-miR-522	CLIP-seq
MIRT2072362	hsa-miR-609	CLIP-seq
MIRT2299544	hsa-miR-587	CLIP-seq
MIRT2299545	hsa-miR-944	CLIP-seq

Show/Hide all (41)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0003677	Function	DNA binding	IDA	10871409
GO:0003677	Function	DNA binding	IEA
GO:0003697	Function	Single-stranded DNA binding	IDA	11809883
GO:0004518	Function	Nuclease activity	IEA
GO:0004519	Function	Endonuclease activity	IEA
GO:0004519	Function	Endonuclease activity	TAS
GO:0005515	Function	Protein binding	IPI	11292842, 11793469, 12810663, 16083711, 17581638, 18768816, 20533529, 20603073, 20706999, 22252508, 25077178, 25502805, 26496610, 31515488, 32296183, 33961781, 34591612
GO:0005524	Function	ATP binding	IEA
GO:0005634	Component	Nucleus	IC	10871409
GO:0005634	Component	Nucleus	IDA	23709753
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005829	Component	Cytosol	IDA
GO:0006281	Process	DNA repair	IEA
GO:0006281	Process	DNA repair	IEA
GO:0006298	Process	Mismatch repair	IBA
GO:0006298	Process	Mismatch repair	IDA	10871409, 23709753
GO:0006298	Process	Mismatch repair	IEA
GO:0006298	Process	Mismatch repair	IEA
GO:0006298	Process	Mismatch repair	IMP	9618520
GO:0006298	Process	Mismatch repair	TAS
GO:0006974	Process	DNA damage response	IEA
GO:0006974	Process	DNA damage response	IEA
GO:0009410	Process	Response to xenobiotic stimulus	IEA
GO:0016446	Process	Somatic hypermutation of immunoglobulin genes	IBA
GO:0016446	Process	Somatic hypermutation of immunoglobulin genes	IEA
GO:0016447	Process	Somatic recombination of immunoglobulin gene segments	IEA
GO:0016787	Function	Hydrolase activity	IEA
GO:0016887	Function	ATP hydrolysis activity	IBA
GO:0016887	Function	ATP hydrolysis activity	IEA
GO:0030983	Function	Mismatched DNA binding	IEA
GO:0032138	Function	Single base insertion or deletion binding	IDA	10871409
GO:0032300	Component	Mismatch repair complex	IEA
GO:0032389	Component	MutLalpha complex	IBA
GO:0032389	Component	MutLalpha complex	IEA
GO:0032407	Function	MutSalpha complex binding	IDA	16403449
GO:0048298	Process	Positive regulation of isotype switching to IgA isotypes	IEA
GO:0048304	Process	Positive regulation of isotype switching to IgG isotypes	IEA
GO:0140664	Function	ATP-dependent DNA damage sensor activity	IEA

MIM	HGNC	e!Ensembl
600259	9122	ENSG00000122512

P54278

Protein name

Mismatch repair endonuclease PMS2 (EC 3.1.-.-) (DNA mismatch repair protein PMS2) (PMS1 protein homolog 2)

Protein function

Component of the post-replicative DNA mismatch repair system (MMR) (PubMed:30653781, PubMed:35189042). Heterodimerizes with MLH1 to form MutL alpha. DNA repair is initiated by MutS alpha (MSH2-MSH6) or MutS beta (MSH2-MSH3) binding to a dsDNA mi

PDB

1EA6 , 1H7S , 1H7U , 5U5R , 6MFQ , 7RCB , 7RCI , 7RCK

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF13589	HATPase_c_3	33 → 161		Domain
PF01119	DNA_mis_repair	248 → 363	DNA mismatch repair protein, C-terminal domain	Family
PF08676	MutL_C	676 → 822	MutL C terminal dimerisation domain	Domain

Sequence

MERAESSSTEPAKAIKPIDRKSVHQICSGQVVLSLSTAVKELVENSLDAGATNIDLKLKD
YGVDLIEVSDNGCGVEEENFEGLTLKHHTSKIQEFADLTQVETFGFRGEALSSLCALSDV
TISTCHASAKVGTRLMFDHNGKIIQKTPYPRPRGTTVSVQQLFSTLPVRHKEFQRNIKKE
YAKMVQVLHAYCIISAGIRVSCTNQLGQGKRQPVVCTGGSPSIKENIGSVFGQKQLQSLI
PFVQLPPSDSVCEEYGLSCSDALHNLFYISGFISQCTHGVGRSSTDRQFFFINRRPCDPA
KVCRLVNEVYHMYNRHQYPFVVLNISVDSECVDINVTPDKRQILLQEEKLLLAVLKTSLI
GMFDSDVNKLNVSQQPLLDVEGNLIKMHAADLEKPMVEKQDQSPSLRTGEEKKDVSISRL
REAFSLRHTTENKPHSPKTPEPRRSPLGQKRGMLSSSTSGAISDKGVLRPQKEAVSSSHG
PSDPTDRAEVEKDSGHGSTSVDSEGFSIPDTGSHCSSEYAASSPGDRGSQEHVDSQEKAP
KTDDSFSDVDCHSNQEDTGCKFRVLPQPTNLATPNTKRFKKEEILSSSDICQKLVNTQDM
SASQVDVAVKINKKVVPLDFSMSSLAKRIKQLHHEAQQSEGEQNYRKFRAKICPGENQAA
EDELRKEISKTMFAEMEIIGQFNLGFIITKLNEDIFIVDQHATDEKYNFEMLQQHTVLQG
QRLIAPQTLNLTAVNEAVLIENLEIFRKNGFDFVIDENAPVTERAKLISLPTSKNWTFGP
QDVDELIFMLSDSPGVMCRPSRVKQMFASRACRKSVMIGTALNTSEMKKLITHMGEMDHP
WNCPHGRPTMRHIANLGVISQN

Sequence length

862

Interactions

View interactions

	KEGG		Reactome
	Mismatch repair Fanconi anemia pathway		Mismatch repair (MMR) directed by MSH2:MSH6 (MutSalpha) Defective Mismatch Repair Associated With MLH1 Defective Mismatch Repair Associated With PMS2 TP53 Regulates Transcription of DNA Repair Genes

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Causal Diseases (38)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Adrenocortical carcinoma, hereditary	Pathogenic	rs267608172	RCV005886125	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Breast and/or ovarian cancer	Likely pathogenic; Pathogenic	rs587779340, rs121434629, rs267608161, rs267608172, rs267608150	RCV003149993 RCV001797999 RCV001798271 RCV003149756 RCV003149757 RCV003149759 View all (1 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Breast carcinoma	Likely pathogenic	rs587782074, rs2128799493	RCV001559122 RCV001579296	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Breast-ovarian cancer, familial, susceptibility to, 1	Likely pathogenic; Pathogenic	rs267608161	RCV005861047	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Breast-ovarian cancer, familial, susceptibility to, 2	Likely pathogenic; Pathogenic	rs757679199	RCV004555875	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Burkitt lymphoma	Pathogenic	rs267608150	RCV000722010	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Carcinoma of colon	Likely pathogenic; Pathogenic	rs2128658092, rs2128719778, rs2128819251, rs587778618, rs587781626, rs786201062, rs876661113, rs1057515572, rs1554298067, rs1394474494, rs267608150	RCV001356384 RCV001355946 RCV001355509 RCV001356008 RCV001355078 View all (7 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Colon adenocarcinoma	Pathogenic	rs267608172	RCV005886124	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Colon cancer	Likely pathogenic; Pathogenic	rs1554298756	RCV000677897	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Colorectal cancer, non-polyposis	Pathogenic	rs200640585	RCV000148734	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Dilated cardiomyopathy 1G	Likely pathogenic	rs121434629	RCV004555831	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Endometrial carcinoma	Pathogenic; Likely pathogenic	rs2128656455, rs2128746824, rs2128754923, rs2128774241, rs2128802890, rs587782704, rs587779333, rs121434629, rs1554294505, rs988423880, rs1554306353, rs587778617	RCV001355610 RCV001355016 RCV001357940 RCV001356598 RCV001358269 View all (8 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Familial cancer of breast	Likely pathogenic; Pathogenic	rs876659736	RCV005895045	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Gastric cancer	Pathogenic; Likely pathogenic	rs587780059, rs1785714291, rs2536499491, rs760228510, rs876659736, rs63750871, rs758304323, rs730881919, rs267608154, rs200640585	RCV003162538 RCV003164536 RCV003164701 RCV003165579 RCV003165571 View all (5 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hereditary breast ovarian cancer syndrome	Likely pathogenic	rs267608153	RCV004689447	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hereditary cancer	Pathogenic	rs587782704	RCV000509483	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hereditary cancer-predisposing syndrome	Likely pathogenic; Pathogenic	rs2128658092, rs2128746842, rs2128819251, rs771928911, rs1202370194, rs2128674468, rs2128683310, rs6972869, rs756653193, rs1562689635, rs267608159, rs2128737358, rs745487791, rs2128671557, rs2128722209 View all (470 more)	RCV002456535 RCV002456536 RCV006406921 RCV003365376 RCV002368217 View all (558 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hereditary nonpolyposis colon cancer	Likely pathogenic; Pathogenic	rs745487791, rs2128671557, rs2128720948, rs587780059, rs188006077, rs587780062, rs587778618, rs587781317, rs587781395, rs587781626, rs141577476, rs587782704, rs587782787, rs2535939866, rs1785714291 View all (57 more)	RCV001527064 RCV001553597 RCV005409013 RCV001731380 RCV005237549 View all (72 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hereditary nonpolyposis colorectal neoplasms	Likely pathogenic; Pathogenic	rs2128658092, rs2128746842, rs2128676082, rs771928911, rs1202370194, rs2128673214, rs2128674468, rs2128683310, rs786202202, rs267608172, rs6972869, rs2128736116, rs2128737155, rs1214597671, rs2128788145 View all (364 more)	RCV003771042 RCV001871933 RCV001379912 RCV001378055 RCV001378993 View all (423 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hypertrophic cardiomyopathy 9	Likely pathogenic	rs121434629	RCV004555831	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Inherited MMR deficiency (Lynch syndrome)	Likely pathogenic; Pathogenic	rs587781626, rs587779340, rs876661113, rs760228510, rs63751466, rs63750049, rs121434629, rs2536493517, rs2536306786, rs63750490, rs587779333, rs587779343, rs267608153	RCV006268621 RCV005252784 RCV005863058 RCV006277755 RCV004691719 View all (8 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Lung cancer	Likely pathogenic	rs587779347	RCV005886127	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Lymphoma	Pathogenic	rs267608150	RCV000722010	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Lynch syndrome	Likely pathogenic; Pathogenic	rs2128775362, rs6972869, rs1583387894, rs587780059, rs188006077, rs587780062, rs587780064, rs587778618, rs587781395, rs587782074, rs141577476, rs587782704, rs587779333, rs373885654, rs786204133 View all (114 more)	RCV001357288 RCV004808038 RCV004017829 RCV004556719 RCV004806065 View all (132 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Lynch syndrome 1	Pathogenic; Likely pathogenic	rs587780064, rs141577476, rs869320619, rs63750871, rs121434629, rs2535753815, rs730881919, rs1562677687, rs63750250, rs201451115, rs587779333, rs267608161, rs267608153	RCV001804845 RCV001310205 RCV001804905 RCV001310204 RCV001804723 View all (8 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Lynch syndrome 4	Likely pathogenic; Pathogenic	rs2128658092, rs2128672286, rs2128746842, rs2128819251, rs771928911, rs1202370194, rs2128683310, rs786202202, rs267608172, rs6972869, rs1214597671, rs2128788145, rs2128846824, rs267608159, rs745487791 View all (370 more)	RCV003450000 RCV003469593 RCV003450001 RCV003449996 RCV003450045 View all (441 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Lynch-like syndrome	Pathogenic; Likely pathogenic	rs587781716, rs267608149	RCV001249994 RCV001249993	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Malignant lymphoma, large B-cell, diffuse	Pathogenic	rs587779329	RCV003449011	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Malignant tumor of breast	Pathogenic; Likely pathogenic	rs2128671526, rs2128672286, rs2128746806, rs876661113, rs757679199, rs200640585	RCV001355118 RCV001357092 RCV001358101 RCV001354824 RCV001356129 RCV001354630 View all (1 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Mismatch repair cancer syndrome 1	Pathogenic; Likely pathogenic	rs587780062, rs141577476, rs587780059, rs587779340, rs1785410333, rs876659736, rs63750871, rs63751466, rs121434629, rs886039646, rs587780724, rs1554298082, rs1554298056, rs763308607, rs1562636427 View all (11 more)	RCV000763589 RCV001197302 RCV000763593 RCV000763591 RCV005356129 View all (21 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Mismatch repair cancer syndrome 4	Likely pathogenic; Pathogenic	rs188006077, rs587780062, rs587778618, rs587781339, rs587781395, rs587781626, rs587781716, rs587782074, rs373885654, rs786201047, rs573125799, rs186577215, rs869320619, rs587780064, rs267608159 View all (41 more)	RCV005394388 RCV005042216 RCV002483226 RCV002492494 RCV005359201 View all (52 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Neoplasm	Pathogenic	rs267608159	RCV005232393	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Ovarian cancer	Likely pathogenic	rs1562605623	RCV005931559	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Pituitary carcinoma	Likely pathogenic	rs121434629	RCV000722017	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
PMS2-related cancer disorders	Likely pathogenic	rs121434629	RCV003335023	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
PMS2-related disorder	Likely pathogenic; Pathogenic	rs188006077, rs587778618, rs756358866, rs587781317, rs587782704, rs587782787, rs587780059, rs786203073, rs573125799, rs587779340, rs267608159, rs863224450, rs63751466, rs121434629, rs1064793234 View all (11 more)	RCV004742259 RCV004742269 RCV004744180 RCV004742273 RCV004742275 View all (21 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Polyp of colon	Likely pathogenic; Pathogenic	rs587779340	RCV000735964	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Rhabdomyosarcoma	Pathogenic	rs63751466	RCV001257544	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (35)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Acute myeloid leukemia	Likely benign; Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST CANCER	—	GenCC	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Breast neoplasm	Conflicting classifications of pathogenicity; Uncertain significance; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CAFE-AU-LAIT SPOTS	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cancer or benign tumor	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHY, DILATED, 1G	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 9	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Benign; Likely benign; Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Likely benign; Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 1	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 4	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLORECTAL NEOPLASMS, HEREDITARY NONPOLYPOSIS	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Constitutional mismatch repair deficiency syndrome	Conflicting classifications of pathogenicity	ClinVar Disgenet, Orphanet Disgenet, Orphanet	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial prostate cancer	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEREDITARY BREAST CARCINOMA	—	ClinGen	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hereditary nonpolyposis colorectal carcinoma	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Inherited polyposis and early onset colorectal cancer - germline testing	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lynch syndrome 5	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MALIGNANT PANCREATIC NEOPLASM	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Conflicting classifications of pathogenicity; Uncertain significance; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MUIR-TORRE SYNDROME	—	GenCC	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OCULAR SARCOIDOSIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian neoplasm	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Papillary renal cell carcinoma type 1	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATE CANCER	—	GenCC	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Likely benign; Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Conflicting classifications of pathogenicity; Likely benign; Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TURCOT SYNDROME	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (289)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Acute lymphocytic leukemia	Lymphocytic Leukemia	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Adenocarcinoma	Adenocarcinoma	BEFREE	22833088, 27258561		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of colon	Adenocarcinoma Of Colon	BEFREE	23582141		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of large intestine	Colorectal Cancer	BEFREE	20632815		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of large intestine	Colorectal Cancer	CGI_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of pancreas	Pancreatic adenocarcinoma	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Adenoma	Adenoma	BEFREE	21376568, 27990589, 29976631, 31649038		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adenomatous Polyposis Coli	Multiple polyposis syndrome	BEFREE	28726808, 29146522, 30324682, 9062584		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adult Medulloblastoma	Medulloblastoma	BEFREE	19283792, 23582141		★★★★★ ★☆☆☆☆ Found in Text Mining only
Agnosia	Agnosia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Alzheimer`s Disease	Alzheimer disease	GWASCAT_DG	25778476		★★★★★ ★☆☆☆☆ Found in Text Mining only
ANOPHTHALMIA AND PULMONARY HYPOPLASIA	Syndromic microphthalmia	BEFREE	28726808		★★★★★ ★☆☆☆☆ Found in Text Mining only
Anophthalmia with pulmonary hypoplasia	Anophthalmia	Pubtator	37200008	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Anxiety	Anxiety Disorder	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Astrocytoma	Astrocytoma	Pubtator	17993636	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Astrocytoma	Astrocytoma	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Attention deficit hyperactivity disorder	Attention Deficit Hyperactivity Disorder	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Azoospermia	Azoospermia	BEFREE	22594646		★★★★★ ★☆☆☆☆ Found in Text Mining only
Azoospermia	Azoospermia	Pubtator	22594646	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Barrett Esophagus	Barrett esophagus	BEFREE	29972732		★★★★★ ★☆☆☆☆ Found in Text Mining only
Barrett Esophagus	Barrett esophagus	Pubtator	29972732	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Benign neoplasm of central nervous system	Benign Neoplasm Of Nervous System	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Benign Supratentorial Neoplasms	Benign Supratentorial Neoplasm	CTD_human_DG	15077197		★★★★★ ★☆☆☆☆ Found in Text Mining only
Biliary Tract Neoplasms	Biliary tract neoplasms	Pubtator	29238914, 32012241	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Brain Diseases	Brain disease	Pubtator	28466842	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Brain Neoplasms	Brain Neoplasms	BEFREE	21204794, 28805995, 30478739		★★★★★ ★☆☆☆☆ Found in Text Mining only
Brain Neoplasms	Brain neoplasms	Pubtator	35638754	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Brain Neoplasms	Brain neoplasms	Pubtator	39910726	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Brain Tumor, Primary	Brain Neoplasms	BEFREE	17389002		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Cancer, Familial	Breast Cancer	CLINGEN_DG	17148452, 25512458, 29345684, 7628019		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	17390069, 28418444, 29345684, 30498870		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Breast Neoplasms	Breast neoplasm	Pubtator	22331944, 23164213, 26976419, 28514183, 29345684, 33503040, 33560870, 34667028, 34866136, 36232793, 36674914, 37628631, 37861889	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Burkitt Lymphoma	Burkitt`s Lymphoma	CLINVAR_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Cancer Other	Cancer	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cancer, Supratentorial	Supratentorial Neoplasm	CTD_human_DG	15077197		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	19181186, 24518125, 28347324	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	18415027, 22833088, 22918162, 22992699		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Endometrioid	Endometrioid carcinoma	Pubtator	32060377	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	24400091, 34250406	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma in situ of endometrium	Endometrial carcinoma	CGI_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Medullary	Medullary carcinoma	Pubtator	24437456	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	23981578		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Ovarian Epithelial	Epithelial ovarian carcinoma	Pubtator	26423401	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Pancreatic Ductal	Pancreatic ductal carcinoma	Pubtator	26226846, 28726808, 32113160, 36453157	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	26537074	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma, Basal Cell	Carcinoma	BEFREE	17970804		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma, Basal Cell	Carcinoma	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma, Neuroendocrine	Carcinoma	BEFREE	25465415		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	24333356, 24728189, 29496294, 29889250, 31056861		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiac diverticulum	Cardiac Diverticulum	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Central Nervous System Neoplasms	Central nervous system neoplasm	Pubtator	37076313	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebral Primitive Neuroectodermal Tumor	Cerebral Primitive Neuroectodermal Tumor	CTD_human_DG	15077197		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cervix carcinoma	Cervix carcinoma	BEFREE	20178594		★★★★★ ★☆☆☆☆ Found in Text Mining only
Childhood Medulloblastoma	Medulloblastoma	BEFREE	19283792, 23582141		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	21193451, 21422863, 22949387, 23358792, 23385444, 23434150, 24051481, 25963852, 26202870, 26895986, 27063605, 30061258, 30613919, 31273487		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic Neoplasms	BEFREE	15256438		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic neoplasm	Pubtator	20689513, 29976631	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic neoplasm	Pubtator	23582141, 23958088, 24518125, 28819720, 30387329, 33535600, 35638754	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic neoplasm	Pubtator	24484585	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal cancer, hereditary nonpolyposis, type 1	Colorectal Cancer	CLINVAR_DG	15887099, 18602922, 20205264, 20487569, 23709753, 24362816		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 4	Colorectal Cancer	UNIPROT_DG	10480359, 11793469, 15887124, 16472587, 16619239, 18178629, 18602922, 19479271, 23709753, 24027009		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 4	Colorectal Cancer	CLINVAR_DG	15077197, 16144131, 16507833, 16616355, 16619239, 17557300, 18602922, 18824584, 20205264, 20487569, 21204794, 21239990, 21376568, 22081473, 22577899 View all (27 more)		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 4	Colorectal Cancer	GENOMICS_ENGLAND_DG	24362816		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 4	Colorectal Cancer	CTD_human_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal Carcinoma	Colorectal Cancer	BEFREE	15077197, 15887099, 15942939, 16166421, 16817031, 17258725, 18521850, 19924528, 20142816, 20495086, 21436632, 21769135, 22577899, 22782591, 22918162 View all (45 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	GENOMICS_ENGLAND_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	10544224, 15077197, 17117178, 17962726, 17993636, 19690142, 19723918, 19752738, 19930554, 20167975, 20655395, 21034533, 21499234, 21559014, 21911971 View all (70 more)	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal Neoplasms	LHGDN	15887099		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal Neoplasms	BEFREE	16472587, 17389002, 22585707, 29758216		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	20689513, 33636974	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms Hereditary Nonpolyposis	Lynch syndrome	Pubtator	10101297, 15731775, 15872200, 16873062, 18178629, 18556776, 18602922, 19672700, 19690142, 19723918, 20473912, 20533529, 20655395, 20698049, 21034533 View all (113 more)	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms Hereditary Nonpolyposis	Lynch syndrome	Pubtator	21911971, 26848797, 32102509	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Common Variable Immunodeficiency	Common variable immunodeficiency	Pubtator	30723478	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Constitutional Mismatch Repair Deficiency Syndrome	Constitutional Mismatch Repair Deficiency Syndrome	CLINGEN_DG	10763829, 11809679, 14574005, 15077197, 15340263, 16204034, 17557300, 18030674, 9500552, 9927034		★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Constitutional mismatch repair deficiency syndrome	Constitutional Mismatch Repair Deficiency Syndrome	Orphanet			★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Constitutional Mismatch Repair Deficiency Syndrome	Constitutional Mismatch Repair Deficiency Syndrome	BEFREE	21376568, 21674763, 26746812, 27017610, 27435373, 28562508		★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Constitutional Mismatch Repair Deficiency Syndrome	Constitutional Mismatch Repair Deficiency Syndrome	GENOMICS_ENGLAND_DG	28297620		★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	BEFREE	12496483, 25528216, 26537074		★★★★★ ★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Developmental regression	Developmental regression	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes mellitus	Pubtator	36453157	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Dysarthria	Dysarthria	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Dysgraphia	Dysgraphia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Dyskinetic syndrome	Dyskinetic Syndrome	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Dyslipidemias	Dyslipidemias	Pubtator	36453157	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Endometrial Carcinoma	Endometrial carcinoma	BEFREE	10479499, 19723918, 20153885, 21145788, 21422863, 21769135, 21791569, 22846734, 23385444, 23599155, 25272293, 25636458, 25871621, 26110232, 26644264 View all (12 more)		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Endometrial Carcinoma	Endometrial carcinoma	CGI_DG			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Endometrial Carcinoma	Endometrial carcinoma	GENOMICS_ENGLAND_DG			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Endometrial Carcinoma	Endometrial carcinoma	HPO_DG			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Endometrial Carcinoma	Endometrial carcinoma	CLINVAR_DG			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Endometrial Neoplasms	Endometrial neoplasm	Pubtator	18602922, 22331944, 23385444, 24084575, 24323032, 25229768, 25400828, 26110232, 27017610, 28946809, 30161022, 30443012, 31554352, 31860975, 32060377 View all (12 more)	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Endometrial Neoplasms	Endometrial neoplasm	Pubtator	26848797, 36142641	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Endometrioid carcinoma ovary	Ovarian endometrioid carcinoma	BEFREE	24018808		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ependymoblastoma	Ependymoblastoma	CTD_human_DG	15077197		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ependymoma	Ependymoma	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Epithelial ovarian cancer	Ovarian cancer	BEFREE	24728189		★★★★★ ★☆☆☆☆ Found in Text Mining only
Esophageal Squamous Cell Carcinoma	Esophageal squamous cell carcinoma	Pubtator	37009661	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Ewings sarcoma	Ewing sarcoma	BEFREE	31072725		★★★★★ ★☆☆☆☆ Found in Text Mining only
Familial Colorectal Cancer Type X	Colorectal Cancer	BEFREE	28944238		★★★★★ ★☆☆☆☆ Found in Text Mining only
Fanconi Anemia	Fanconi Anemia	BEFREE	22811390, 23779253		★★★★★ ★☆☆☆☆ Found in Text Mining only
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)	Anemia	BEFREE	22811390, 23779253		★★★★★ ★☆☆☆☆ Found in Text Mining only
Fibrocystic Breast Disease	Breast fibrocystic disease	Pubtator	33382535	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
FRIEDREICH ATAXIA 1	Friedreich Ataxia	BEFREE	24971578		★★★★★ ★☆☆☆☆ Found in Text Mining only
Gallbladder Carcinoma	Gallbladder cancer	BEFREE	25680569		★★★★★ ★☆☆☆☆ Found in Text Mining only
Gallbladder Neoplasms	Gallbladder neoplasm	Pubtator	31068195	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Gastrointestinal Neoplasms	Gastrointestinal Neoplasms	BEFREE	17258725, 18551179		★★★★★ ★☆☆☆☆ Found in Text Mining only
Gastrointestinal Neoplasms	Gastrointestinal neoplasm	Pubtator	39910726	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	17440981, 21425258, 24259277, 28371827		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	24259277, 28912153, 34848827	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	15331927, 17440981, 21425258, 24259277, 25537509, 28371827		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	14518071		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	36414603	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	CGI_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
granulosa cell tumor	Granulosa Cell Tumor	BEFREE	28347324		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hallucinations	Hallucinations	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hamartoma Syndrome, Multiple	Hamartoma	BEFREE	30809968		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hematologic Neoplasms	Hematologic Neoplasms	BEFREE	17851451		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hemiplegia/hemiparesis	Hemiplegia/hemiparesis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hereditary Breast and Ovarian Cancer Syndrome	Hereditary Breast And Ovarian Cancer Syndrome	BEFREE	10954253, 27016223, 28514183, 30498870		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hereditary Breast and Ovarian Cancer Syndrome	Hereditary breast and ovarian cancer syndrome	Pubtator	24549055, 26976419, 28514183, 30128536, 30306255, 31650731, 33326660, 36232793, 37861889	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hereditary Malignant Neoplasm	Hereditary cancer	BEFREE	23981578, 28365877, 29107668		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hereditary non-polyposis colorectal cancer syndrome	Hereditary nonpolyposis colorectal cancer	CLINGEN_DG	11793442, 15872200, 15887124, 16619239, 16873062, 18602922, 20624957, 22494821, 25512458, 8072530		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hereditary non-polyposis colorectal cancer syndrome	Hereditary nonpolyposis colorectal cancer	ORPHANET_DG	18602922		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hereditary Nonpolyposis Colorectal Cancer	Colorectal Cancer	BEFREE	10615123, 11317354, 11793442, 11793469, 12522549, 14518071, 14871975, 15256438, 15555211, 15872200, 15887124, 15942939, 15943554, 16136382, 16144131 View all (119 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hereditary Nonpolyposis Colorectal Cancer	Colorectal Cancer	CLINGEN_DG	11793442, 15872200, 15887124, 16619239, 16873062, 18602922, 20624957, 22494821, 25512458, 8072530		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hereditary Nonpolyposis Colorectal Cancer	Colorectal Cancer	CLINVAR_DG	12714694, 15077197, 15256438, 15845562, 15872200, 15887099, 15887124, 16144131, 16283678, 16426742, 16472587, 16619239, 16817031, 17072973, 17312306 View all (63 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hereditary Nonpolyposis Colorectal Cancer	Colorectal Cancer	CTD_human_DG	14756672, 15887124, 25701956		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hereditary Nonpolyposis Colorectal Cancer	Colorectal Cancer	ORPHANET_DG	18602922		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hereditary nonpolyposis colorectal carcinoma	Hereditary nonpolyposis colorectal cancer	BEFREE	16472587, 8649412		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hereditary nonpolyposis colorectal carcinoma	Hereditary nonpolyposis colorectal cancer	HPO_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hereditary Nonpolyposis Colorectal Neoplasms	Colorectal Neoplasms	CLINVAR_DG	10037723, 10763829, 11574484, 11897781, 12714694, 15077197, 15872200, 15887099, 16144131, 16338176, 16472587, 16507833, 16619239, 16873062, 17029773 View all (72 more)		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hereditary Nonpolyposis Colorectal Neoplasms	Colorectal Neoplasms	CLINGEN_DG	11793442, 15872200, 15887124, 16619239, 16873062, 18602922, 20624957, 22494821, 25512458, 8072530		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hereditary Nonpolyposis Colorectal Neoplasms	Colorectal Neoplasms	CTD_human_DG	14756672, 15887124, 25701956		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hereditary Nonpolyposis Colorectal Neoplasms	Colorectal Neoplasms	LHGDN	14871975, 16472587, 17653898, 18602922		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hereditary pancreatitis	Pancreatitis	Pubtator	32113160	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Huntington Disease	Huntington Disease	BEFREE	27044000		★★★★★ ★☆☆☆☆ Found in Text Mining only
Huntington Disease	Huntington disease	Pubtator	27044000, 32898862, 34050153	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hyperaldosteronism	Hyperaldosteronism	LHGDN	18307725		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hyperaldosteronism, Familial, Type II	Hyperaldosteronism	BEFREE	18307725		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hyperinsulinism	Hyperinsulinism	CLINVAR_DG	17557300		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	25026297	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Infertility	Infertility	Pubtator	18706547	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Infertility Male	Male infertility	Pubtator	18706547, 22594646	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Intellectual developmental disorder	Pubtator	17993636	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Intestinal Cancer	Intestinal Cancer	BEFREE	16144131		★★★★★ ★☆☆☆☆ Found in Text Mining only
Intestinal Neoplasms	Intestinal neoplasm	Pubtator	19181186	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Intestinal Polyposis	Intestinal Polyposis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Juvenile polyposis syndrome	Polyposis Syndrome	BEFREE	28600700		★★★★★ ★☆☆☆☆ Found in Text Mining only
Kidney Neoplasm	Kidney Neoplasm	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Kidney Neoplasms	Kidney neoplasm	Pubtator	22331944, 23385444, 28787086	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Leigh Disease	Leigh Syndrome	BEFREE	30061258		★★★★★ ★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	10498615		★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	24400091		★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Lupus Nephritis	Lupus Nephritis	BEFREE	24386384		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lupus Nephritis	Lupus nephritis	Pubtator	24386384	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
LUSCAN-LUMISH SYNDROME	LUSCAN-LUMISH SYNDROME	BEFREE	31297992		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic Metastasis	BEFREE	28672935		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	BEFREE	10439048, 10469609, 10498885, 7628019		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Lymphoma	Lymphoma	CLINVAR_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Lymphoma	Lymphoma	HPO_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Lynch Syndrome	Lynch Syndrome	CLINGEN_DG	11793442, 15872200, 15887124, 16619239, 16873062, 18602922, 20624957, 22494821, 25512458, 8072530		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Lynch Syndrome	Lynch Syndrome	CTD_human_DG	14756672, 15887124, 25701956		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Lynch Syndrome	Lynch Syndrome	BEFREE	15872200, 16136382, 16472587, 16619239, 17453009, 17653898, 18178629, 18270343, 18602922, 18951442, 19132747, 19459153, 19466295, 19526325, 19672700 View all (86 more)		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Lynch syndrome	Lynch Syndrome	Orphanet			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Lynch Syndrome	Lynch Syndrome	GENOMICS_ENGLAND_DG	23788249		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Malabsorption Syndrome	Malabsorption Syndrome	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Childhood Neoplasm	Malignant Neoplasm	BEFREE	16507833, 27329736		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	17390069, 28418444, 29345684, 30498870, 30633926, 31522348		★★★★★ ★☆☆☆☆ 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	20153885, 21145788, 21422863, 21769135, 21791569, 22846734, 23385444, 25272293, 26110232, 26848797, 27017610, 29107668, 29333623, 29783979, 29904176, 30161022, 31273487 View all (2 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of endometrium	Endometrial Cancer	CGI_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of gastrointestinal tract	Malignant gastrointestinal tract tumors	BEFREE	21297438, 22883484		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	23981578		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	24333356, 29496294, 31056861		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	CGI_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	GENOMICS_ENGLAND_DG			★★★★★ ★☆☆☆☆ 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	28726808		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	12684669, 17044039, 26036629, 27803051, 30061258, 30681994, 30730411, 31811435		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of skin	Skin cancer	BEFREE	28420421		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	21687951, 27527654, 31372044		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of urinary bladder	Urinary bladder cancer	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	10954253, 12684669, 15872200, 15887099, 16507833, 17258725, 17387511, 18270343, 18273873, 18602922, 18709565, 18781192, 19244167, 19793570, 20495087 View all (23 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	21193451, 21422863, 22331944, 22949387, 23358792, 23385444, 23434150, 24051481, 24829445, 25963852, 26202870, 26895986, 27063605, 30061258, 30613919, 31273487 View all (1 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Marinesco-Sjogren syndrome	Marinesco-Sjogren Syndrome	BEFREE	16817031, 21081928		★★★★★ ★☆☆☆☆ Found in Text Mining only
Medulloblastoma	Medulloblastoma	BEFREE	19283792, 23582141		★★★★★ ★☆☆☆☆ Found in Text Mining only
Medulloblastoma	Medulloblastoma	Pubtator	19283792, 23582141	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Medulloblastoma	Medulloblastoma	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Medulloblastoma	Medulloblastoma	CGI_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Medulloepithelioma	Medulloepithelioma	CTD_human_DG	15077197		★★★★★ ★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	11205295		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Meningioma	Meningioma	Pubtator	36975468	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Metastatic melanoma	Metastatic Melanoma	BEFREE	15161053		★★★★★ ★☆☆☆☆ Found in Text Mining only
Metastatic Prostate Carcinoma	Metastatic Prostate Carcinoma	BEFREE	30681994		★★★★★ ★☆☆☆☆ Found in Text Mining only
Migraine Disorders	Migraine	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
MOHR-TRANEBJAERG SYNDROME	MOHR-TRANEBJAERG SYNDROME	BEFREE	29333623		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mucinous Adenocarcinoma	Mucinous Adenocarcinoma	BEFREE	23648460		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nasopharyngeal carcinoma	Nasopharyngeal Carcinoma	BEFREE	21571466		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nasopharyngeal Carcinoma	Nasopharyngeal carcinoma	Pubtator	32546739	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasm of skeletal system	Neoplasm of skeletal system	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	11205295, 12684669, 14601090, 15256438, 15887099, 15887124, 16166421, 16227397, 16360201, 16472587, 16817031, 17284719, 17390069, 18178629, 18273873 View all (53 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplastic Syndromes, Hereditary	Hereditary Cancer Syndrome	CLINVAR_DG	10199405, 10223463, 10763829, 11574484, 15077197, 15256438, 15845562, 15872200, 15887099, 15887124, 16116158, 16144131, 16283678, 16284300, 16472587 View all (97 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplastic Syndromes, Hereditary	Hereditary Cancer Syndrome	BEFREE	21769135		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nephroblastoma	Nephroblastoma	BEFREE	17440981		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Neuroectodermal Tumor, Primitive	Neuroectodermal Tumors	CTD_human_DG	15077197		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neurofibromatosis 1	Neurofibromatosis	BEFREE	17851451, 19293170, 22848017		★★★★★ ★☆☆☆☆ Found in Text Mining only
Noninfiltrating Intraductal Carcinoma	Ductal carcinoma	BEFREE	9713355		★★★★★ ★☆☆☆☆ Found in Text Mining only
Oligospermia	Oligospermia	BEFREE	22594646		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ovarian Carcinoma	Ovarian Carcinoma	CGI_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	LHGDN	16774946		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ovarian neoplasm	Ovarian neoplasm	BEFREE	24333356, 29496294, 31056861		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ovarian neoplasm	Ovarian neoplasm	CGI_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ovarian neoplasm	Ovarian neoplasm	CLINVAR_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ovarian neoplasm	Ovarian neoplasm	HPO_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	18723338, 22331944, 26718727, 28381238, 29063235, 29889250, 31056861, 33560870, 37940339	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	28726808		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	21212431, 21681824, 22331944, 25479140, 27449771, 32113160, 32658872, 35346574, 36896836	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Papillary thyroid carcinoma	Papillary thyroid carcinoma	BEFREE	29075860		★★★★★ ★☆☆☆☆ Found in Text Mining only
Peritoneal Neoplasms	Peritoneal neoplasm	Pubtator	20093870	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Pituitary Adenoma	Pituitary adenoma	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Pituitary carcinoma	Pituitary carcinoma	CLINVAR_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Polycythemia Vera	Polycythemia vera	Pubtator	32606442, 37024097	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Polyp of large intestine	Polyp Of Large Intestine	BEFREE	28600700		★★★★★ ★☆☆☆☆ Found in Text Mining only
Primary peritoneal carcinoma	Peritoneal Carcinoma	BEFREE	20093870		★★★★★ ★☆☆☆☆ Found in Text Mining only
Primary Supratentorial Neoplasms	Supratentorial Neoplasm	CTD_human_DG	15077197		★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	12684669, 17044039, 26036629, 27803051, 30061258, 30681994, 30730411		★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostatic Intraepithelial Neoplasias	Prostatic Neoplasms	BEFREE	17044039		★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic Neoplasms	BEFREE	12684669, 17044039		★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic Neoplasms	LHGDN	12684669, 17044039		★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	19124481, 19723918, 26036629, 35666082, 36623239, 36922933, 37283096	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	32384491	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Pulmonary arterial hypertension	Pulmonary arterial hypertension	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Rectal Carcinoma	Rectal Carcinoma	BEFREE	22608206, 23358792, 26232782		★★★★★ ★☆☆☆☆ Found in Text Mining only
Rectal Neoplasms	Rectal Neoplasms	BEFREE	24484585		★★★★★ ★☆☆☆☆ Found in Text Mining only
Rectal Neoplasms	Rectal Neoplasms	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	BEFREE	12496483		★★★★★ ★☆☆☆☆ Found in Text Mining only
Respiratory Tract Infections	Respiratory system infectious disease	Pubtator	36818471	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Rhabdomyosarcoma	Rhabdomyosarcoma	BEFREE	19293170		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Rhabdomyosarcoma	Rhabdomyosarcoma	CTD_human_DG	19293170		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Rhabdomyosarcoma	Rhabdomyosarcoma	HPO_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Sarcoma	Sarcoma	BEFREE	10439048, 10469609, 22782591		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Sarcoma	CLINVAR_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sebaceous Gland Neoplasms	Sebaceous gland neoplasms	Pubtator	29718441	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Secondary malignant neoplasm of colon and/or rectum	Colorectal Neoplasms	BEFREE	29055842		★★★★★ ★☆☆☆☆ Found in Text Mining only
Skin Neoplasms	Skin neoplasm	Pubtator	28420421	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Spinocerebellar Ataxias	Spinocerebellar ataxia	Pubtator	27044000	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Spongioblastoma	Spongioblastoma	CTD_human_DG	15077197		★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	BEFREE	17970804, 30650417		★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	33501557	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	31372044		★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Diseases	Stomach disease	Pubtator	32143126	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	19181186, 22331944, 27527654, 28381238, 32143126, 33933102, 35255858	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	26371427	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Supratentorial Neoplasms	Supratentorial Neoplasm	CTD_human_DG	15077197		★★★★★ ★☆☆☆☆ Found in Text Mining only
Teratozoospermia	Teratozoospermia	BEFREE	7628019		★★★★★ ★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasm	Thyroid Neoplasm	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Torre-Muir syndrome	Torre-Muir Syndrome	BEFREE	28730249		★★★★★ ★☆☆☆☆ Found in Text Mining only
Trichohepatoenteric Syndrome	Trichohepatoenteric Syndrome	BEFREE	15340263, 18081655, 27990589		★★★★★ ★☆☆☆☆ Found in Text Mining only
TUMOR PREDISPOSITION SYNDROME	TUMOR PREDISPOSITION SYNDROME	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Turcot syndrome	Turcot syndrome	Pubtator	15077197, 19156169, 22692065, 23582141, 24815484, 26116798, 26619103, 26819409, 27017610, 27329736, 27476653, 28381238, 31068195, 31204389, 31616036 View all (21 more)	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Turcot syndrome	Turcot syndrome	Pubtator	25229768, 34042092	Stimulate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Turcot syndrome	Turcot syndrome	Pubtator	32197529, 32664968, 34545179, 36414603, 37679002, 37699372	Inhibit	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Turcot syndrome (disorder)	Turcot syndrome	CTD_human_DG	10763829, 15077197		★★★★★ ★☆☆☆☆ Found in Text Mining only
Turcot syndrome (disorder)	Turcot syndrome	GENOMICS_ENGLAND_DG	10763829, 16507833, 23788249, 24362816, 25691505, 27050224, 28297620		★★★★★ ★☆☆☆☆ Found in Text Mining only
Turcot syndrome (disorder)	Turcot syndrome	CLINGEN_DG	10763829, 11809679, 14574005, 15077197, 15340263, 16204034, 17557300, 18030674, 9500552, 9927034		★★★★★ ★☆☆☆☆ Found in Text Mining only
Turcot syndrome (disorder)	Turcot syndrome	BEFREE	15077197, 15256438, 16136382, 16144131, 18376293, 18415027, 19039682, 20632815, 21204794, 25691505, 26746812, 26819409, 27017610, 27435373, 28562508 View all (8 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Turcot syndrome (disorder)	Turcot syndrome	UNIPROT_DG	15077197, 17557300, 27435373, 7661930, 9419979		★★★★★ ★☆☆☆☆ Found in Text Mining only
Turcot syndrome (disorder)	Turcot syndrome	ORPHANET_DG	20442441, 23483711		★★★★★ ★☆☆☆☆ Found in Text Mining only
Turcot syndrome (disorder)	Turcot syndrome	CLINVAR_DG	23629955, 26116798, 26691941, 28218421		★★★★★ ★☆☆☆☆ Found in Text Mining only
Undifferentiated carcinoma	Carcinoma	BEFREE	23648460		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ureteral Neoplasms	Ureteral neoplasms	Pubtator	36818471	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	11506498, 19692168, 22331944, 32221012, 36818471, 36818940	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Urologic Neoplasms	Urologic neoplasm	Pubtator	37798659	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Urologic Neoplasms	Urologic Neoplasms	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Urothelial Carcinoma	Urothelial Carcinoma	BEFREE	27713421		★★★★★ ★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	20178594, 32975231	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Uveal melanoma	Uveal Melanoma	BEFREE	27915441		★★★★★ ★☆☆☆☆ Found in Text Mining only
Waardenburg syndrome type 4	Waardenburg syndrome	Pubtator	32546739	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Williams Syndrome	Williams Syndrome	BEFREE	9344666		★★★★★ ★☆☆☆☆ Found in Text Mining only
Wilms Tumor	Wilms tumor	Pubtator	35230882	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

PMS2 (PMS1 homolog 2, mismatch repair system component)