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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	11200
Gene name	Checkpoint kinase 2
Gene symbol	CHEK2
Synonyms (NCBI Gene)	CDS1CHK2HuCds1LFS2PP1425RAD53TPDS4hCds1
Chromosome	22
Chromosome location	22q12.1
Summary	In response to DNA damage and replication blocks, cell cycle progression is halted through the control of critical cell cycle regulators. The protein encoded by this gene is a cell cycle checkpoint regulator and putative tumor suppressor. It contains a fo

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SNP ID	Visualize variation	Clinical significance	Consequence
rs17879961	A>C,G	Conflicting-interpretations-of-pathogenicity, not-provided, risk-factor, pathogenic, likely-pathogenic, pathogenic-likely-pathogenic, uncertain-significance	Upstream transcript variant, 5 prime UTR variant, coding sequence variant, intron variant, non coding transcript variant, genic upstream transcript variant, missense variant
rs17882942	G>C	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Genic downstream transcript variant, coding sequence variant, non coding transcript variant, missense variant
rs17883172	C>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Genic downstream transcript variant, coding sequence variant, non coding transcript variant, missense variant
rs17883862	G>A,C,T	Uncertain-significance, likely-benign, pathogenic, benign-likely-benign	5 prime UTR variant, coding sequence variant, intron variant, non coding transcript variant, genic upstream transcript variant, missense variant
rs28909980	C>T	Uncertain-significance, conflicting-interpretations-of-pathogenicity, likely-pathogenic	Coding sequence variant, intron variant, non coding transcript variant, genic downstream transcript variant, downstream transcript variant, missense variant
rs28909982	T>C	Likely-pathogenic, pathogenic-likely-pathogenic	Upstream transcript variant, 5 prime UTR variant, coding sequence variant, non coding transcript variant, genic upstream transcript variant, missense variant
rs72552322	C>T	Conflicting-interpretations-of-pathogenicity, likely-pathogenic	Upstream transcript variant, 5 prime UTR variant, coding sequence variant, intron variant, non coding transcript variant, genic upstream transcript variant, missense variant
rs77130927	G>A	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Upstream transcript variant, 5 prime UTR variant, coding sequence variant, intron variant, non coding transcript variant, genic upstream transcript variant, missense variant
rs121908698	C>A,T	Pathogenic-likely-pathogenic, pathogenic, likely-pathogenic	Upstream transcript variant, genic upstream transcript variant, splice donor variant
rs121908700	A>G,T	Uncertain-significance, likely-benign, conflicting-interpretations-of-pathogenicity	Upstream transcript variant, intron variant, genic upstream transcript variant
rs121908701	C>T	Uncertain-significance, pathogenic	Intron variant, 5 prime UTR variant, non coding transcript variant, genic upstream transcript variant, upstream transcript variant, missense variant, coding sequence variant
rs121908702	C>A,G,T	Uncertain-significance, pathogenic	Coding sequence variant, non coding transcript variant, stop gained, missense variant
rs121908706	C>A,T	Uncertain-significance, likely-pathogenic	Coding sequence variant, genic downstream transcript variant, non coding transcript variant, missense variant
rs121908707	C>A,G,T	Pathogenic, not-provided, likely-pathogenic	Genic downstream transcript variant, downstream transcript variant, splice donor variant
rs121908710	A>G	Conflicting-interpretations-of-pathogenicity, likely-benign, not-provided	Genic downstream transcript variant, 3 prime UTR variant, non coding transcript variant
rs137853007	G>A,C,T	Pathogenic, uncertain-significance, not-provided, likely-benign, likely-pathogenic	5 prime UTR variant, synonymous variant, non coding transcript variant, genic upstream transcript variant, upstream transcript variant, missense variant, coding sequence variant
rs137853008	C>A	Pathogenic	Intron variant, 5 prime UTR variant, non coding transcript variant, genic upstream transcript variant, missense variant, coding sequence variant
rs137853009	C>A,G,T	Uncertain-significance, conflicting-interpretations-of-pathogenicity, pathogenic	Intron variant, 5 prime UTR variant, non coding transcript variant, genic upstream transcript variant, upstream transcript variant, missense variant, coding sequence variant
rs137853010	G>A,C	Uncertain-significance, pathogenic	Intron variant, 5 prime UTR variant, non coding transcript variant, genic upstream transcript variant, upstream transcript variant, missense variant, coding sequence variant
rs137853011	G>A	Uncertain-significance, pathogenic-likely-pathogenic, pathogenic, likely-pathogenic	Coding sequence variant, genic downstream transcript variant, non coding transcript variant, missense variant
rs139366548	A>G	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, genic downstream transcript variant, non coding transcript variant, missense variant
rs141568342	C>T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Intron variant, 5 prime UTR variant, non coding transcript variant, genic upstream transcript variant, missense variant, coding sequence variant
rs142763740	G>A,C,T	Uncertain-significance, conflicting-interpretations-of-pathogenicity, likely-pathogenic	Coding sequence variant, genic downstream transcript variant, non coding transcript variant, missense variant
rs143965148	C>T	Likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, genic downstream transcript variant, non coding transcript variant, missense variant
rs200050883	C>A,G,T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, genic downstream transcript variant, non coding transcript variant, missense variant
rs200432447	G>A,C	Pathogenic-likely-pathogenic, pathogenic, likely-pathogenic	Stop gained, non coding transcript variant, genic downstream transcript variant, missense variant, coding sequence variant
rs200649225	C>T	Likely-benign, conflicting-interpretations-of-pathogenicity	Non coding transcript variant, downstream transcript variant, genic downstream transcript variant, missense variant, coding sequence variant
rs200917541	G>A,T	Uncertain-significance, likely-benign, pathogenic	Stop gained, 5 prime UTR variant, synonymous variant, non coding transcript variant, genic upstream transcript variant, upstream transcript variant, coding sequence variant
rs200928781	T>A,C,G	Uncertain-significance, conflicting-interpretations-of-pathogenicity, likely-pathogenic	Coding sequence variant, genic downstream transcript variant, non coding transcript variant, missense variant
rs201084748	G>A,C	Uncertain-significance, conflicting-interpretations-of-pathogenicity, not-provided	Intron variant, 5 prime UTR variant, non coding transcript variant, genic upstream transcript variant, missense variant, coding sequence variant
rs371418985	C>T	Pathogenic-likely-pathogenic, likely-pathogenic	Non coding transcript variant, genic downstream transcript variant, downstream transcript variant, stop gained, coding sequence variant
rs374938148	G>A	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Non coding transcript variant, genic upstream transcript variant, 5 prime UTR variant, synonymous variant, intron variant, coding sequence variant
rs376736188	G>A,C	Pathogenic, uncertain-significance, not-provided	Non coding transcript variant, stop gained, genic upstream transcript variant, 5 prime UTR variant, missense variant, intron variant, coding sequence variant
rs536907995	G>A	Pathogenic, pathogenic-likely-pathogenic, likely-pathogenic, not-provided	Non coding transcript variant, stop gained, genic upstream transcript variant, 5 prime UTR variant, intron variant, coding sequence variant
rs540635787	G>A,C,T	Conflicting-interpretations-of-pathogenicity, likely-pathogenic, uncertain-significance	Genic downstream transcript variant, non coding transcript variant, missense variant, coding sequence variant
rs544216926	C>T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, non coding transcript variant, missense variant, coding sequence variant
rs545982789	A>G	Likely-pathogenic, conflicting-interpretations-of-pathogenicity	Splice donor variant
rs555607708	G>-	Pathogenic, uncertain-significance, risk-factor, not-provided	Genic downstream transcript variant, non coding transcript variant, frameshift variant, coding sequence variant
rs560596101	A>C,G,T	Pathogenic, likely-pathogenic	Upstream transcript variant, genic upstream transcript variant, splice donor variant
rs562517792	T>A,C	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant, non coding transcript variant, genic downstream transcript variant
rs575910805	T>C	Uncertain-significance, conflicting-interpretations-of-pathogenicity, risk-factor	Non coding transcript variant, intron variant, upstream transcript variant, genic upstream transcript variant, coding sequence variant, 5 prime UTR variant, missense variant
rs587780169	C>A,T	Uncertain-significance, pathogenic	Non coding transcript variant, genic downstream transcript variant, coding sequence variant, stop gained, missense variant
rs587780170	C>A,G,T	Uncertain-significance, likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant, genic downstream transcript variant
rs587780171	G>A,T	Uncertain-significance, likely-benign, conflicting-interpretations-of-pathogenicity	Synonymous variant, non coding transcript variant, downstream transcript variant, coding sequence variant, genic downstream transcript variant, missense variant
rs587780173	A>-	Pathogenic, likely-pathogenic	Non coding transcript variant, frameshift variant, downstream transcript variant, coding sequence variant, genic downstream transcript variant
rs587780174	A>-	Pathogenic, likely-pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant, genic downstream transcript variant
rs587780179	G>A	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant, non coding transcript variant, genic downstream transcript variant
rs587780181	TTCTTGGTCCTCAGG>-,TTCTTGGTCCTCAGGTTCTTGGTCCTCAGG	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Non coding transcript variant, intron variant, genic upstream transcript variant, inframe insertion, coding sequence variant, 5 prime UTR variant, inframe deletion
rs587780183	A>-	Pathogenic	Non coding transcript variant, intron variant, frameshift variant, upstream transcript variant, genic upstream transcript variant, coding sequence variant, 5 prime UTR variant
rs587780184	->A	Pathogenic	Non coding transcript variant, intron variant, frameshift variant, upstream transcript variant, genic upstream transcript variant, coding sequence variant, 5 prime UTR variant
rs587780186	C>-	Pathogenic	Non coding transcript variant, intron variant, frameshift variant, upstream transcript variant, genic upstream transcript variant, coding sequence variant, 5 prime UTR variant
rs587780192	C>A,G,T	Uncertain-significance, likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs587781269	G>A,C	Uncertain-significance, pathogenic	Non coding transcript variant, intron variant, genic upstream transcript variant, coding sequence variant, 5 prime UTR variant, stop gained, missense variant
rs587781279	T>A,C,G	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Upstream transcript variant, intron variant, genic upstream transcript variant
rs587781379	C>T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant, non coding transcript variant
rs587781592	G>A,T	Uncertain-significance, pathogenic	Non coding transcript variant, intron variant, genic upstream transcript variant, coding sequence variant, 5 prime UTR variant, stop gained, missense variant
rs587781699	C>A,G,T	Likely-pathogenic	Intron variant, splice donor variant
rs587781705	A>C	Pathogenic	Non coding transcript variant, intron variant, genic upstream transcript variant, coding sequence variant, 5 prime UTR variant, stop gained
rs587781836	A>T	Pathogenic	Non coding transcript variant, genic downstream transcript variant, downstream transcript variant, coding sequence variant, stop gained
rs587782008	TCT>-	Uncertain-significance, likely-pathogenic, conflicting-interpretations-of-pathogenicity	Non coding transcript variant, intron variant, upstream transcript variant, genic upstream transcript variant, coding sequence variant, 5 prime UTR variant, inframe deletion
rs587782070	C>T	Pathogenic	Non coding transcript variant, intron variant, genic upstream transcript variant, coding sequence variant, 5 prime UTR variant, stop gained
rs587782245	T>-	Pathogenic, pathogenic-likely-pathogenic	Non coding transcript variant, intron variant, frameshift variant, upstream transcript variant, genic upstream transcript variant, coding sequence variant, 5 prime UTR variant
rs587782401	A>G,T	Likely-pathogenic	Intron variant, genic upstream transcript variant, splice donor variant
rs587782471	A>G,T	Uncertain-significance, likely-pathogenic, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant, non coding transcript variant
rs587782489	C>A,G	Uncertain-significance, likely-pathogenic, conflicting-interpretations-of-pathogenicity	Non coding transcript variant, genic downstream transcript variant, coding sequence variant, stop gained, missense variant
rs587782541	G>A	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant, non coding transcript variant, genic downstream transcript variant
rs587782575	T>C	Likely-pathogenic	Splice acceptor variant, genic downstream transcript variant
rs587782707	->TC	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant, genic downstream transcript variant
rs587782766	G>-	Pathogenic, pathogenic-likely-pathogenic	Non coding transcript variant, intron variant, frameshift variant, genic upstream transcript variant, coding sequence variant, 5 prime UTR variant
rs587782830	C>G,T	Likely-pathogenic	Upstream transcript variant, splice acceptor variant, intron variant, genic upstream transcript variant
rs587782840	A>G	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Intron variant, genic downstream transcript variant
rs587782849	T>A	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Upstream transcript variant, intron variant, genic upstream transcript variant
rs730881687	C>A,T	Likely-pathogenic, pathogenic-likely-pathogenic	Splice acceptor variant
rs730881699	T>-	Pathogenic	Non coding transcript variant, frameshift variant, upstream transcript variant, genic upstream transcript variant, coding sequence variant, 5 prime UTR variant
rs730881700	->T	Pathogenic, likely-pathogenic, pathogenic-likely-pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant, genic downstream transcript variant
rs730881701	G>A,C	Uncertain-significance, pathogenic	Non coding transcript variant, upstream transcript variant, genic upstream transcript variant, coding sequence variant, 5 prime UTR variant, stop gained, missense variant
rs730881702	C>T	Pathogenic	Stop gained, coding sequence variant, non coding transcript variant, genic downstream transcript variant
rs748005072	A>-	Pathogenic, pathogenic-likely-pathogenic	Intron variant, frameshift variant, coding sequence variant
rs749153163	G>-	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs749257861	->G	Conflicting-interpretations-of-pathogenicity	3 prime UTR variant, non coding transcript variant, genic downstream transcript variant
rs749963436	C>A,G	Uncertain-significance, pathogenic	Missense variant, coding sequence variant, non coding transcript variant, stop gained
rs750616657	->TGAT	Pathogenic	Initiator codon variant, non coding transcript variant, intron variant, frameshift variant, genic upstream transcript variant, coding sequence variant, 5 prime UTR variant
rs751653049	C>T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant, non coding transcript variant, genic downstream transcript variant
rs753159426	A>-	Pathogenic, pathogenic-likely-pathogenic	Non coding transcript variant, frameshift variant, downstream transcript variant, coding sequence variant, genic downstream transcript variant
rs753972711	C>A,T	Pathogenic	Missense variant, coding sequence variant, non coding transcript variant, stop gained
rs756131136	CTGA>-	Likely-pathogenic	Non coding transcript variant, intron variant, frameshift variant, genic upstream transcript variant, coding sequence variant, 5 prime UTR variant
rs756250205	G>A,C,T	Uncertain-significance, pathogenic	Non coding transcript variant, genic downstream transcript variant, coding sequence variant, stop gained, missense variant
rs757016287	ATCCGAC>-	Pathogenic	Non coding transcript variant, intron variant, frameshift variant, genic upstream transcript variant, coding sequence variant, 5 prime UTR variant
rs758677815	G>-,GG,GGG,GGGG	Pathogenic, likely-pathogenic	Non coding transcript variant, frameshift variant, inframe insertion, coding sequence variant, genic downstream transcript variant
rs759706360	C>G,T	Likely-pathogenic	Splice donor variant, genic downstream transcript variant
rs760502479	G>T	Pathogenic	Non coding transcript variant, intron variant, downstream transcript variant, coding sequence variant, genic downstream transcript variant, stop gained
rs761494650	G>A	Pathogenic, likely-pathogenic, pathogenic-likely-pathogenic	Non coding transcript variant, intron variant, genic upstream transcript variant, coding sequence variant, 5 prime UTR variant, stop gained
rs764884641	TTAC>-	Uncertain-significance, likely-pathogenic	Splice donor variant, intron variant
rs765080766	C>A,G,T	Likely-pathogenic	Splice donor variant, intron variant, genic upstream transcript variant
rs765664259	A>-	Pathogenic	Non coding transcript variant, genic downstream transcript variant, stop gained, downstream transcript variant, coding sequence variant
rs766158073	T>C	Likely-pathogenic	Splice acceptor variant, downstream transcript variant, genic downstream transcript variant, intron variant
rs766416564	ATAGA>-	Pathogenic	Non coding transcript variant, intron variant, 5 prime UTR variant, frameshift variant, coding sequence variant, genic upstream transcript variant
rs767253467	G>A,C	Uncertain-significance, pathogenic	Non coding transcript variant, intron variant, 5 prime UTR variant, stop gained, missense variant, coding sequence variant, genic upstream transcript variant
rs768172525	C>A,T	Likely-pathogenic	Downstream transcript variant, genic downstream transcript variant, splice donor variant, intron variant
rs768384031	G>A,T	Likely-pathogenic, pathogenic	Non coding transcript variant, intron variant, 5 prime UTR variant, stop gained, missense variant, coding sequence variant, genic upstream transcript variant
rs768973809	G>A,C	Pathogenic	Missense variant, non coding transcript variant, coding sequence variant, stop gained
rs769430546	C>-	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs769819013	T>C,G	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Non coding transcript variant, intron variant, 5 prime UTR variant, missense variant, coding sequence variant, genic upstream transcript variant
rs772683219	AA>-,A,AAA	Pathogenic	Frameshift variant, coding sequence variant, intron variant, stop gained
rs773955899	C>-	Pathogenic	Non coding transcript variant, intron variant, 5 prime UTR variant, frameshift variant, coding sequence variant, genic upstream transcript variant
rs774175654	C>-	Likely-pathogenic, pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant, genic downstream transcript variant
rs774831804	CT>-	Likely-pathogenic	Non coding transcript variant, coding sequence variant, splice donor variant
rs775167943	AG>-	Pathogenic	Non coding transcript variant, intron variant, 5 prime UTR variant, frameshift variant, upstream transcript variant, coding sequence variant, genic upstream transcript variant
rs778989252	G>A,C	Uncertain-significance, pathogenic-likely-pathogenic, pathogenic	Non coding transcript variant, genic downstream transcript variant, stop gained, missense variant, coding sequence variant
rs779844113	A>C,G	Likely-pathogenic	Splice donor variant, genic downstream transcript variant
rs781021132	A>G	Likely-pathogenic	Splice donor variant, intron variant, genic upstream transcript variant
rs786201896	T>A,C	Uncertain-significance, pathogenic	Missense variant, non coding transcript variant, coding sequence variant, stop gained
rs786201906	C>T	Likely-pathogenic	Splice acceptor variant, genic downstream transcript variant
rs786202497	C>-	Pathogenic-likely-pathogenic, pathogenic	Non coding transcript variant, intron variant, 5 prime UTR variant, frameshift variant, coding sequence variant, genic upstream transcript variant
rs786202601	T>-	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant, genic downstream transcript variant
rs786202676	T>A,G	Uncertain-significance, likely-pathogenic	Non coding transcript variant, intron variant, genic downstream transcript variant, downstream transcript variant, missense variant, coding sequence variant
rs786203031	ACTCCAGCAGTCCACA>-	Pathogenic	Non coding transcript variant, genic downstream transcript variant, stop gained, downstream transcript variant, coding sequence variant
rs786203053	C>-,CC	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs786203229	C>A,G,T	Uncertain-significance, likely-pathogenic	Splice acceptor variant, intron variant, genic upstream transcript variant
rs786203355	C>-	Pathogenic	Non coding transcript variant, 5 prime UTR variant, frameshift variant, upstream transcript variant, coding sequence variant, genic upstream transcript variant
rs786203458	A>-	Pathogenic	Non coding transcript variant, intron variant, 5 prime UTR variant, frameshift variant, coding sequence variant, genic upstream transcript variant
rs786203650	C>A,G,T	Pathogenic-likely-pathogenic, likely-pathogenic	Splice donor variant, intron variant, genic upstream transcript variant
rs786203889	C>G,T	Uncertain-significance, pathogenic	Non coding transcript variant, intron variant, 5 prime UTR variant, stop gained, missense variant, coding sequence variant, genic upstream transcript variant
rs786203977	C>A,T	Uncertain-significance, pathogenic-likely-pathogenic, likely-pathogenic	Non coding transcript variant, intron variant, 5 prime UTR variant, missense variant, initiator codon variant, coding sequence variant, genic upstream transcript variant
rs796389290	T>A,C	Uncertain-significance, pathogenic	Non coding transcript variant, intron variant, 5 prime UTR variant, stop gained, upstream transcript variant, missense variant, coding sequence variant, genic upstream transcript variant
rs864622149	C>A,G,T	Likely-pathogenic, pathogenic	Splice donor variant
rs864622453	->TTCT	Pathogenic	Non coding transcript variant, intron variant, 5 prime UTR variant, frameshift variant, upstream transcript variant, coding sequence variant, genic upstream transcript variant
rs864622613	C>A,G	Likely-pathogenic	Splice acceptor variant, upstream transcript variant, genic upstream transcript variant
rs876658302	A>-,AA	Pathogenic	Non coding transcript variant, genic downstream transcript variant, frameshift variant, downstream transcript variant, coding sequence variant
rs876658646	->G	Likely-pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant, genic downstream transcript variant
rs876659250	G>A	Pathogenic	Non coding transcript variant, coding sequence variant, genic downstream transcript variant, stop gained
rs876659287	C>G,T	Likely-pathogenic	Splice acceptor variant, genic downstream transcript variant
rs876659422	GTAAAACGTGCC>-	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Inframe deletion, non coding transcript variant, coding sequence variant, genic downstream transcript variant
rs876659519	A>C	Likely-pathogenic, pathogenic	Coding sequence variant, intron variant, stop gained
rs876659639	T>-	Likely-pathogenic, pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant, genic downstream transcript variant
rs876659833	C>A,T	Uncertain-significance, pathogenic	Non coding transcript variant, intron variant, 5 prime UTR variant, stop gained, missense variant, coding sequence variant, genic upstream transcript variant
rs876659838	TCTAAA>-	Likely-pathogenic	Non coding transcript variant, intron variant, genic downstream transcript variant, splice acceptor variant, coding sequence variant
rs876660801	AC>-	Likely-pathogenic	Splice donor variant, genic downstream transcript variant
rs876661050	G>-	Likely-pathogenic, pathogenic	Non coding transcript variant, 5 prime UTR variant, frameshift variant, upstream transcript variant, coding sequence variant, genic upstream transcript variant
rs876661156	G>-,GG	Likely-pathogenic, pathogenic	Non coding transcript variant, intron variant, 5 prime UTR variant, frameshift variant, coding sequence variant, genic upstream transcript variant
rs878854909	G>A	Pathogenic	Non coding transcript variant, intron variant, genic downstream transcript variant, stop gained, downstream transcript variant, coding sequence variant
rs878854912	T>-	Conflicting-interpretations-of-pathogenicity, likely-benign	Genic downstream transcript variant, intron variant
rs878854913	C>A,T	Uncertain-significance, pathogenic	Non coding transcript variant, genic downstream transcript variant, stop gained, downstream transcript variant, missense variant, coding sequence variant
rs878854917	C>A,T	Uncertain-significance, pathogenic	Non coding transcript variant, intron variant, 5 prime UTR variant, stop gained, missense variant, coding sequence variant, genic upstream transcript variant
rs878854926	C>T	Likely-pathogenic	Splice acceptor variant, intron variant
rs886039512	G>A	Likely-pathogenic, pathogenic	Non coding transcript variant, coding sequence variant, genic downstream transcript variant, stop gained
rs886039609	AA>-,A,AAA	Likely-pathogenic, pathogenic	Non coding transcript variant, intron variant, 5 prime UTR variant, frameshift variant, stop gained, coding sequence variant, genic upstream transcript variant
rs886039629	C>A,T	Pathogenic-likely-pathogenic, likely-pathogenic	Splice donor variant, genic downstream transcript variant
rs886039631	G>A,T	Likely-pathogenic, likely-benign	Non coding transcript variant, synonymous variant, genic downstream transcript variant, stop gained, coding sequence variant
rs886039721	C>A,T	Likely-pathogenic	Splice acceptor variant
rs886039731	T>-	Pathogenic-likely-pathogenic, likely-pathogenic	Frameshift variant, coding sequence variant, intron variant
rs886039739	A>C,T	Uncertain-significance, likely-pathogenic, pathogenic-likely-pathogenic, pathogenic	Missense variant, coding sequence variant, intron variant, stop gained
rs886041455	->C	Likely-pathogenic	Non coding transcript variant, genic downstream transcript variant, frameshift variant, downstream transcript variant, coding sequence variant
rs899211928	G>A,T	Pathogenic	Non coding transcript variant, intron variant, 5 prime UTR variant, stop gained, upstream transcript variant, missense variant, coding sequence variant, genic upstream transcript variant
rs905674348	G>A,C	Likely-benign, pathogenic	Upstream transcript variant, coding sequence variant, synonymous variant, stop gained, non coding transcript variant, genic upstream transcript variant, 5 prime UTR variant
rs911826883	G>T	Pathogenic	Upstream transcript variant, coding sequence variant, stop gained, non coding transcript variant, genic upstream transcript variant, 5 prime UTR variant
rs948928965	C>A,T	Uncertain-significance, likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, genic downstream transcript variant, missense variant, non coding transcript variant
rs1057517596	C>-	Likely-pathogenic	Splice acceptor variant, coding sequence variant, non coding transcript variant
rs1057522814	T>C	Conflicting-interpretations-of-pathogenicity, likely-benign	Genic downstream transcript variant, intron variant, downstream transcript variant
rs1060502684	AG>-	Pathogenic	Frameshift variant, genic downstream transcript variant, coding sequence variant, non coding transcript variant
rs1060502687	TT>-	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs1060502688	G>A	Uncertain-significance, likely-pathogenic	5 prime UTR variant, missense variant, coding sequence variant, upstream transcript variant, non coding transcript variant, genic upstream transcript variant
rs1060502698	C>T	Likely-pathogenic	Splice acceptor variant, genic downstream transcript variant
rs1060502710	G>T	Pathogenic	Coding sequence variant, stop gained, non coding transcript variant
rs1060502716	C>A,G,T	Likely-pathogenic	Splice acceptor variant, genic downstream transcript variant
rs1060502722	T>C	Uncertain-significance, likely-pathogenic	Genic downstream transcript variant, intron variant
rs1064793566	TATA>-	Pathogenic	Intron variant, downstream transcript variant, frameshift variant, coding sequence variant, non coding transcript variant, genic downstream transcript variant
rs1064793780	C>-	Pathogenic	5 prime UTR variant, coding sequence variant, upstream transcript variant, non coding transcript variant, splice donor variant, genic upstream transcript variant
rs1064793817	G>A	Pathogenic	5 prime UTR variant, intron variant, coding sequence variant, stop gained, non coding transcript variant, genic upstream transcript variant
rs1064794870	G>C	Conflicting-interpretations-of-pathogenicity	Genic upstream transcript variant, intron variant, upstream transcript variant
rs1064794965	->T	Likely-pathogenic	Frameshift variant, genic downstream transcript variant, coding sequence variant, non coding transcript variant
rs1064795487	A>G	Conflicting-interpretations-of-pathogenicity	Genic upstream transcript variant, intron variant, upstream transcript variant
rs1064795959	A>-	Likely-pathogenic, pathogenic	5 prime UTR variant, intron variant, frameshift variant, coding sequence variant, non coding transcript variant, genic upstream transcript variant
rs1064796016	C>G,T	Likely-pathogenic, uncertain-significance	Intron variant
rs1064796572	C>A,G,T	Uncertain-significance, pathogenic	Downstream transcript variant, coding sequence variant, stop gained, non coding transcript variant, genic downstream transcript variant, missense variant
rs1131691044	C>-,CC	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs1131691045	C>-	Pathogenic-likely-pathogenic, likely-pathogenic	Frameshift variant, genic downstream transcript variant, coding sequence variant, non coding transcript variant
rs1160973224	T>G	Likely-pathogenic	Splice acceptor variant, genic downstream transcript variant
rs1199577809	C>T	Pathogenic	Genic downstream transcript variant, coding sequence variant, non coding transcript variant, stop gained
rs1214213337	->T	Pathogenic	Genic downstream transcript variant, coding sequence variant, non coding transcript variant, stop gained
rs1225437533	T>-	Pathogenic	Stop gained, intron variant, coding sequence variant, upstream transcript variant, non coding transcript variant, 5 prime UTR variant, genic upstream transcript variant
rs1231012263	G>A	Pathogenic	Stop gained, intron variant, coding sequence variant, non coding transcript variant, 5 prime UTR variant, genic upstream transcript variant
rs1233699096	A>G,T	Pathogenic	Coding sequence variant, intron variant, missense variant, stop gained
rs1248967885	A>C,G	Pathogenic, uncertain-significance	Stop gained, coding sequence variant, non coding transcript variant, missense variant, downstream transcript variant, genic downstream transcript variant
rs1250779080	A>-	Pathogenic	Coding sequence variant, intron variant, frameshift variant, non coding transcript variant, 5 prime UTR variant, genic upstream transcript variant
rs1293617484	TAAGAAGAGGGGG>-	Likely-pathogenic	Splice acceptor variant, intron variant
rs1298667185	C>A,T	Likely-pathogenic	Splice acceptor variant
rs1342011335	T>-,TT	Pathogenic	Genic upstream transcript variant, non coding transcript variant, coding sequence variant, intron variant, frameshift variant
rs1346554630	CA>-	Pathogenic	Genic upstream transcript variant, non coding transcript variant, coding sequence variant, intron variant, 5 prime UTR variant, frameshift variant
rs1349961118	G>A,C,T	Pathogenic, uncertain-significance	Coding sequence variant, intron variant, missense variant, stop gained, 5 prime UTR variant, non coding transcript variant, genic upstream transcript variant
rs1390889028	TAATA>-	Pathogenic	Frameshift variant, coding sequence variant, intron variant
rs1420382294	C>A	Pathogenic	Non coding transcript variant, stop gained, genic downstream transcript variant, coding sequence variant
rs1422634212	T>-	Pathogenic	Frameshift variant, intron variant, coding sequence variant
rs1474786480	CT>-	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs1483241325	A>T	Likely-pathogenic	Genic downstream transcript variant, splice donor variant
rs1555911635	G>-	Likely-pathogenic	Non coding transcript variant, genic downstream transcript variant, coding sequence variant, frameshift variant
rs1555911636	->A	Likely-pathogenic	Non coding transcript variant, genic downstream transcript variant, coding sequence variant, frameshift variant
rs1555911638	CTGAAAATAAAGG>-	Pathogenic	Intron variant, non coding transcript variant, coding sequence variant, splice acceptor variant, genic downstream transcript variant
rs1555911640	G>-	Likely-pathogenic	Non coding transcript variant, genic downstream transcript variant, coding sequence variant, frameshift variant
rs1555912001	->G	Likely-pathogenic	Non coding transcript variant, genic downstream transcript variant, coding sequence variant, frameshift variant
rs1555912044	GAAGA>-,GA	Likely-pathogenic	Inframe deletion, non coding transcript variant, coding sequence variant, frameshift variant, genic downstream transcript variant
rs1555912060	AC>-	Pathogenic	Non coding transcript variant, genic downstream transcript variant, coding sequence variant, frameshift variant
rs1555913078	G>-	Pathogenic	Non coding transcript variant, genic downstream transcript variant, coding sequence variant, frameshift variant
rs1555913094	TT>-	Pathogenic	Non coding transcript variant, genic downstream transcript variant, coding sequence variant, frameshift variant
rs1555913106	C>A	Pathogenic	Non coding transcript variant, genic downstream transcript variant, coding sequence variant, stop gained
rs1555913410	T>-	Pathogenic	Non coding transcript variant, genic downstream transcript variant, coding sequence variant, frameshift variant
rs1555913464	G>-	Pathogenic	Non coding transcript variant, genic downstream transcript variant, coding sequence variant, frameshift variant
rs1555913493	TT>-	Pathogenic	Non coding transcript variant, genic downstream transcript variant, coding sequence variant, frameshift variant
rs1555913494	G>A	Pathogenic	Non coding transcript variant, genic downstream transcript variant, coding sequence variant, stop gained
rs1555913631	A>G	Likely-pathogenic	Genic downstream transcript variant, downstream transcript variant, splice donor variant
rs1555913632	A>-	Likely-pathogenic	Genic downstream transcript variant, downstream transcript variant, splice donor variant
rs1555913645	TAACTCCTA>CTCCT	Pathogenic	Inframe indel, non coding transcript variant, coding sequence variant, downstream transcript variant, stop gained, genic downstream transcript variant
rs1555913672	ACAGCACGGTTATACCCAGCAGTCC>-	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant, downstream transcript variant, genic downstream transcript variant
rs1555913881	T>-	Pathogenic	Non coding transcript variant, genic downstream transcript variant, coding sequence variant, frameshift variant
rs1555913894	->G	Pathogenic	Non coding transcript variant, genic downstream transcript variant, coding sequence variant, frameshift variant
rs1555913934	AG>-	Pathogenic	Non coding transcript variant, genic downstream transcript variant, coding sequence variant, frameshift variant
rs1555913941	T>-	Pathogenic, likely-pathogenic	Non coding transcript variant, genic downstream transcript variant, coding sequence variant, frameshift variant
rs1555914279	G>-	Pathogenic	Intron variant, non coding transcript variant, coding sequence variant, downstream transcript variant, frameshift variant, genic downstream transcript variant
rs1555914382	C>T	Likely-pathogenic	Genic downstream transcript variant, intron variant, downstream transcript variant, splice acceptor variant
rs1555915295	A>C	Likely-pathogenic	Splice donor variant
rs1555915298	C>A,T	Likely-pathogenic	Splice donor variant
rs1555915392	->A	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs1555915409	T>-	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs1555915433	C>A,T	Pathogenic, uncertain-significance	Non coding transcript variant, missense variant, coding sequence variant, stop gained
rs1555915491	->T	Likely-pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs1555915589	T>C	Likely-pathogenic	Splice acceptor variant
rs1555916968	A>-	Pathogenic	Intron variant, coding sequence variant, frameshift variant
rs1555916987	G>-	Pathogenic	Intron variant, coding sequence variant, frameshift variant
rs1555917031	G>A,T	Pathogenic, likely-benign, likely-pathogenic	Synonymous variant, intron variant, coding sequence variant, stop gained
rs1555917041	TAAGAAGAGGGGG>CC	Uncertain-significance, likely-pathogenic	Intron variant, splice acceptor variant
rs1555920142	T>-	Likely-pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs1555920257	T>C	Likely-pathogenic	Splice acceptor variant
rs1555921011	C>T	Likely-pathogenic	Splice donor variant
rs1555921143	->GGCTACTT	Likely-pathogenic	Non coding transcript variant, inframe indel, coding sequence variant, stop gained
rs1555921290	G>-	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs1555921323	CACAGGCACCACTAGAGG>-	Pathogenic	Non coding transcript variant, intron variant, coding sequence variant, splice acceptor variant
rs1555921327	->GGAG	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs1555924538	G>-	Pathogenic	5 prime UTR variant, genic upstream transcript variant, intron variant, non coding transcript variant, coding sequence variant, frameshift variant
rs1555926975	ATGTAAGAGTTTTTAGGACCCA>-	Pathogenic	5 prime UTR variant, genic upstream transcript variant, intron variant, non coding transcript variant, coding sequence variant, frameshift variant, upstream transcript variant
rs1555926996	G>A,T	Pathogenic, likely-benign	5 prime UTR variant, genic upstream transcript variant, intron variant, non coding transcript variant, coding sequence variant, stop gained, upstream transcript variant, synonymous variant
rs1555927038	C>-	Pathogenic	5 prime UTR variant, genic upstream transcript variant, intron variant, non coding transcript variant, coding sequence variant, frameshift variant, upstream transcript variant
rs1555927137	G>-	Pathogenic	5 prime UTR variant, genic upstream transcript variant, non coding transcript variant, coding sequence variant, frameshift variant, upstream transcript variant
rs1555927148	A>-,AA	Pathogenic, likely-pathogenic	5 prime UTR variant, genic upstream transcript variant, non coding transcript variant, coding sequence variant, frameshift variant, upstream transcript variant
rs1555927165	T>-	Likely-pathogenic	5 prime UTR variant, genic upstream transcript variant, non coding transcript variant, coding sequence variant, frameshift variant, upstream transcript variant
rs1555927291	G>T	Pathogenic	5 prime UTR variant, genic upstream transcript variant, non coding transcript variant, coding sequence variant, stop gained, upstream transcript variant
rs1555927302	T>-	Pathogenic	5 prime UTR variant, genic upstream transcript variant, non coding transcript variant, coding sequence variant, frameshift variant, upstream transcript variant
rs1555927312	CA>-	Likely-pathogenic	5 prime UTR variant, genic upstream transcript variant, inframe indel, non coding transcript variant, coding sequence variant, stop gained, upstream transcript variant
rs1555927374	C>T	Pathogenic	5 prime UTR variant, genic upstream transcript variant, non coding transcript variant, coding sequence variant, stop gained, upstream transcript variant
rs1555927398	CA>-	Pathogenic	5 prime UTR variant, genic upstream transcript variant, non coding transcript variant, coding sequence variant, frameshift variant, upstream transcript variant
rs1555932071	ATCC>-	Likely-pathogenic	5 prime UTR variant, genic upstream transcript variant, intron variant, non coding transcript variant, coding sequence variant, frameshift variant
rs1555932116	C>-	Pathogenic	5 prime UTR variant, genic upstream transcript variant, intron variant, non coding transcript variant, coding sequence variant, frameshift variant
rs1555932231	G>-,GG	Pathogenic	5 prime UTR variant, genic upstream transcript variant, intron variant, non coding transcript variant, coding sequence variant, frameshift variant
rs1555932326	G>A	Pathogenic	5 prime UTR variant, genic upstream transcript variant, intron variant, non coding transcript variant, coding sequence variant, stop gained
rs1555932341	G>A	Pathogenic, pathogenic-likely-pathogenic, likely-pathogenic	5 prime UTR variant, genic upstream transcript variant, intron variant, non coding transcript variant, coding sequence variant, stop gained
rs1555932344	G>-	Pathogenic	5 prime UTR variant, genic upstream transcript variant, intron variant, non coding transcript variant, coding sequence variant, frameshift variant
rs1555932481	->ACTG	Pathogenic	5 prime UTR variant, genic upstream transcript variant, intron variant, non coding transcript variant, coding sequence variant, frameshift variant
rs1555932518	T>-	Pathogenic	5 prime UTR variant, genic upstream transcript variant, intron variant, non coding transcript variant, coding sequence variant, frameshift variant
rs1555932583	ATATGCCCTGG>-	Pathogenic	5 prime UTR variant, genic upstream transcript variant, intron variant, non coding transcript variant, coding sequence variant, frameshift variant
rs1555932735	CCTTG>-	Pathogenic	5 prime UTR variant, genic upstream transcript variant, intron variant, non coding transcript variant, coding sequence variant, frameshift variant
rs1555932877	G>C	Pathogenic	5 prime UTR variant, genic upstream transcript variant, intron variant, non coding transcript variant, coding sequence variant, stop gained
rs1555932913	->G	Pathogenic	5 prime UTR variant, genic upstream transcript variant, intron variant, non coding transcript variant, coding sequence variant, frameshift variant
rs1569111699	TT>-	Likely-pathogenic	Non coding transcript variant, genic downstream transcript variant, coding sequence variant, frameshift variant
rs1569112324	->G	Likely-pathogenic	Non coding transcript variant, genic downstream transcript variant, coding sequence variant, frameshift variant
rs1569113653	->ACAAGAA	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant, downstream transcript variant, genic downstream transcript variant
rs1569114113	G>-	Pathogenic	Non coding transcript variant, genic downstream transcript variant, coding sequence variant, frameshift variant
rs1569115687	A>C	Likely-pathogenic	Genic downstream transcript variant, intron variant, downstream transcript variant, splice donor variant
rs1569116316	T>-	Pathogenic	Intron variant, non coding transcript variant, coding sequence variant, downstream transcript variant, frameshift variant, genic downstream transcript variant
rs1569120831	T>-	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs1569121048	A>-	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs1569121172	C>-	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs1569127917	CTACTTAC>AA	Likely-pathogenic	Intron variant, splice donor variant
rs1569149953	G>A	Likely-pathogenic	5 prime UTR variant, genic upstream transcript variant, intron variant, non coding transcript variant, coding sequence variant, stop gained
rs1569150017	A>-	Pathogenic	5 prime UTR variant, genic upstream transcript variant, intron variant, non coding transcript variant, coding sequence variant, frameshift variant
rs1569157733	C>-	Pathogenic	5 prime UTR variant, genic upstream transcript variant, intron variant, non coding transcript variant, coding sequence variant, frameshift variant, upstream transcript variant
rs1569158075	T>C	Likely-pathogenic	Genic upstream transcript variant, upstream transcript variant, intron variant, splice acceptor variant
rs1569158640	CT>-	Pathogenic	5 prime UTR variant, genic upstream transcript variant, non coding transcript variant, coding sequence variant, stop gained, upstream transcript variant
rs1569158776	G>-	Pathogenic	5 prime UTR variant, genic upstream transcript variant, non coding transcript variant, coding sequence variant, frameshift variant, upstream transcript variant
rs1569170839	TGAG>-	Pathogenic	5 prime UTR variant, genic upstream transcript variant, intron variant, non coding transcript variant, coding sequence variant, frameshift variant
rs1569171106	TGCTGGTAGAGGAGCT>-	Pathogenic	5 prime UTR variant, genic upstream transcript variant, intron variant, non coding transcript variant, coding sequence variant, frameshift variant
rs1601702086	C>-	Likely-pathogenic	Non coding transcript variant, genic downstream transcript variant, coding sequence variant, frameshift variant
rs1601715755	A>-	Likely-pathogenic	Genic downstream transcript variant, splice donor variant
rs1601715865	->C	Pathogenic	Non coding transcript variant, genic downstream transcript variant, coding sequence variant, frameshift variant
rs1601716482	A>T	Pathogenic	Non coding transcript variant, genic downstream transcript variant, coding sequence variant, stop gained
rs1601719186	C>T	Pathogenic	Non coding transcript variant, genic downstream transcript variant, coding sequence variant, stop gained
rs1601719250	TT>-	Pathogenic, likely-pathogenic	Non coding transcript variant, genic downstream transcript variant, coding sequence variant, frameshift variant
rs1601719287	A>-	Pathogenic	Non coding transcript variant, genic downstream transcript variant, coding sequence variant, frameshift variant
rs1601719328	A>-	Pathogenic	Non coding transcript variant, genic downstream transcript variant, coding sequence variant, frameshift variant
rs1601719449	TG>GT	Pathogenic	Inframe indel, non coding transcript variant, coding sequence variant, stop gained, genic downstream transcript variant
rs1601720308	AAGGCTTAATATTGGTAGAGAGAGAAAG>-	Likely-pathogenic	Intron variant, non coding transcript variant, coding sequence variant, splice acceptor variant, genic downstream transcript variant
rs1601723175	ATGAGAGAGG>-	Pathogenic	Non coding transcript variant, genic downstream transcript variant, coding sequence variant, frameshift variant
rs1601727022	G>-	Pathogenic	Intron variant, non coding transcript variant, coding sequence variant, downstream transcript variant, frameshift variant, genic downstream transcript variant
rs1601727263	TGTATAATACCGTTTT>-	Pathogenic	Intron variant, non coding transcript variant, coding sequence variant, downstream transcript variant, frameshift variant, genic downstream transcript variant
rs1601738338	C>-	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs1601738571	->AGGTAGC	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs1601738999	A>-	Likely-pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs1601752050	T>A	Likely-pathogenic	Intron variant
rs1601752066	A>G	Likely-pathogenic	Intron variant, splice donor variant
rs1601753141	T>C	Likely-pathogenic	Intron variant, splice acceptor variant
rs1601777275	A>G	Likely-pathogenic	Splice donor variant
rs1601783375	T>A	Pathogenic	Non coding transcript variant, coding sequence variant, stop gained
rs1601783879	C>TTAAA	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs1601784008	->T	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs1601805632	C>A	Pathogenic	5 prime UTR variant, genic upstream transcript variant, intron variant, non coding transcript variant, coding sequence variant, stop gained
rs1601822717	A>G	Likely-pathogenic	Genic upstream transcript variant, upstream transcript variant, intron variant, splice donor variant
rs1601822722	C>G,T	Likely-pathogenic	Genic upstream transcript variant, upstream transcript variant, intron variant, splice donor variant
rs1601823036	->TCAATTTCAGAATTGTTATTCAAAGG	Pathogenic	5 prime UTR variant, genic upstream transcript variant, intron variant, inframe indel, non coding transcript variant, coding sequence variant, stop gained, upstream transcript variant
rs1601823546	->T	Pathogenic	5 prime UTR variant, genic upstream transcript variant, intron variant, non coding transcript variant, coding sequence variant, frameshift variant, upstream transcript variant
rs1601824130	TAAG>-	Pathogenic	5 prime UTR variant, genic upstream transcript variant, intron variant, non coding transcript variant, coding sequence variant, frameshift variant, upstream transcript variant
rs1601824270	A>-	Pathogenic	5 prime UTR variant, genic upstream transcript variant, intron variant, non coding transcript variant, coding sequence variant, frameshift variant, upstream transcript variant
rs1601825829	G>-	Pathogenic	5 prime UTR variant, genic upstream transcript variant, non coding transcript variant, coding sequence variant, frameshift variant, upstream transcript variant
rs1601851248	G>-	Pathogenic	5 prime UTR variant, genic upstream transcript variant, intron variant, non coding transcript variant, coding sequence variant, frameshift variant
rs1601851875	T>-	Pathogenic	5 prime UTR variant, genic upstream transcript variant, intron variant, non coding transcript variant, coding sequence variant, frameshift variant
rs1601852451	T>-	Pathogenic	5 prime UTR variant, genic upstream transcript variant, intron variant, non coding transcript variant, coding sequence variant, frameshift variant
rs1601853112	A>T	Conflicting-interpretations-of-pathogenicity	5 prime UTR variant, genic upstream transcript variant, intron variant, non coding transcript variant, coding sequence variant, synonymous variant
rs1601853585	GGACTGGG>-	Pathogenic	5 prime UTR variant, genic upstream transcript variant, intron variant, non coding transcript variant, coding sequence variant, frameshift variant

374

Show/Hide all (374)

miRTarBase ID	miRNA	Experiments	Reference
MIRT437458	hsa-miR-182-5p	Luciferase reporter assay	23249749
MIRT502867	hsa-miR-128-3p	PAR-CLIP	20371350
MIRT502866	hsa-miR-27b-3p	PAR-CLIP	20371350
MIRT502865	hsa-miR-216a-3p	PAR-CLIP	20371350
MIRT502864	hsa-miR-3681-3p	PAR-CLIP	20371350
MIRT502863	hsa-miR-27a-3p	PAR-CLIP	20371350
MIRT502862	hsa-miR-4803	PAR-CLIP	20371350
MIRT502861	hsa-miR-595	PAR-CLIP	20371350
MIRT502860	hsa-miR-376c-3p	PAR-CLIP	20371350
MIRT502859	hsa-miR-383-5p	PAR-CLIP	20371350
MIRT502858	hsa-miR-5694	PAR-CLIP	20371350
MIRT502857	hsa-miR-6074	PAR-CLIP	20371350
MIRT502856	hsa-miR-5697	PAR-CLIP	20371350
MIRT502855	hsa-miR-8068	PAR-CLIP	20371350
MIRT502854	hsa-miR-1297	PAR-CLIP	20371350
MIRT502853	hsa-miR-26a-5p	PAR-CLIP	20371350
MIRT502852	hsa-miR-26b-5p	PAR-CLIP	20371350
MIRT502851	hsa-miR-4465	PAR-CLIP	20371350
MIRT502850	hsa-miR-513a-5p	PAR-CLIP	20371350
MIRT502849	hsa-miR-2053	PAR-CLIP	20371350
MIRT548924	hsa-miR-19a-3p	PAR-CLIP	20371350
MIRT548923	hsa-miR-19b-3p	PAR-CLIP	20371350
MIRT548924	hsa-miR-19a-3p	PAR-CLIP	20371350
MIRT548923	hsa-miR-19b-3p	PAR-CLIP	20371350
MIRT548922	hsa-miR-548n	PAR-CLIP	20371350
MIRT568101	hsa-miR-548an	PAR-CLIP	20371350
MIRT548921	hsa-miR-548a-5p	PAR-CLIP	20371350
MIRT548920	hsa-miR-548ab	PAR-CLIP	20371350
MIRT548919	hsa-miR-548ad-5p	PAR-CLIP	20371350
MIRT548918	hsa-miR-548ae-5p	PAR-CLIP	20371350
MIRT548917	hsa-miR-548ak	PAR-CLIP	20371350
MIRT548916	hsa-miR-548am-5p	PAR-CLIP	20371350
MIRT548915	hsa-miR-548ap-5p	PAR-CLIP	20371350
MIRT548914	hsa-miR-548aq-5p	PAR-CLIP	20371350
MIRT548913	hsa-miR-548ar-5p	PAR-CLIP	20371350
MIRT548912	hsa-miR-548as-5p	PAR-CLIP	20371350
MIRT548911	hsa-miR-548au-5p	PAR-CLIP	20371350
MIRT548910	hsa-miR-548ay-5p	PAR-CLIP	20371350
MIRT548909	hsa-miR-548b-5p	PAR-CLIP	20371350
MIRT548908	hsa-miR-548bb-5p	PAR-CLIP	20371350
MIRT548907	hsa-miR-548c-5p	PAR-CLIP	20371350
MIRT548906	hsa-miR-548d-5p	PAR-CLIP	20371350
MIRT548905	hsa-miR-548h-5p	PAR-CLIP	20371350
MIRT548904	hsa-miR-548i	PAR-CLIP	20371350
MIRT548903	hsa-miR-548j-5p	PAR-CLIP	20371350
MIRT548902	hsa-miR-548o-5p	PAR-CLIP	20371350
MIRT548901	hsa-miR-548w	PAR-CLIP	20371350
MIRT548900	hsa-miR-548y	PAR-CLIP	20371350
MIRT548899	hsa-miR-559	PAR-CLIP	20371350
MIRT568100	hsa-miR-124-3p	PAR-CLIP	20371350
MIRT548898	hsa-miR-519a-3p	PAR-CLIP	20371350
MIRT548897	hsa-miR-519b-3p	PAR-CLIP	20371350
MIRT548896	hsa-miR-519c-3p	PAR-CLIP	20371350
MIRT568099	hsa-miR-5582-5p	PAR-CLIP	20371350
MIRT548895	hsa-miR-130a-3p	PAR-CLIP	20371350
MIRT548894	hsa-miR-130b-3p	PAR-CLIP	20371350
MIRT548893	hsa-miR-301a-3p	PAR-CLIP	20371350
MIRT548892	hsa-miR-301b-3p	PAR-CLIP	20371350
MIRT548891	hsa-miR-3666	PAR-CLIP	20371350
MIRT548890	hsa-miR-4295	PAR-CLIP	20371350
MIRT548889	hsa-miR-454-3p	PAR-CLIP	20371350
MIRT548888	hsa-miR-6736-3p	PAR-CLIP	20371350
MIRT548887	hsa-miR-3691-3p	PAR-CLIP	20371350
MIRT548886	hsa-miR-5695	PAR-CLIP	20371350
MIRT548885	hsa-miR-548aj-5p	PAR-CLIP	20371350
MIRT548884	hsa-miR-548f-5p	PAR-CLIP	20371350
MIRT548883	hsa-miR-548g-5p	PAR-CLIP	20371350
MIRT548882	hsa-miR-548x-5p	PAR-CLIP	20371350
MIRT548881	hsa-miR-1468-3p	PAR-CLIP	20371350
MIRT548880	hsa-miR-548aw	PAR-CLIP	20371350
MIRT548878	hsa-miR-2113	PAR-CLIP	20371350
MIRT548879	hsa-miR-548q	PAR-CLIP	20371350
MIRT502867	hsa-miR-128-3p	PAR-CLIP	21572407
MIRT502866	hsa-miR-27b-3p	PAR-CLIP	21572407
MIRT502865	hsa-miR-216a-3p	PAR-CLIP	21572407
MIRT502864	hsa-miR-3681-3p	PAR-CLIP	21572407
MIRT502863	hsa-miR-27a-3p	PAR-CLIP	21572407
MIRT502862	hsa-miR-4803	PAR-CLIP	21572407
MIRT502861	hsa-miR-595	PAR-CLIP	21572407
MIRT502860	hsa-miR-376c-3p	PAR-CLIP	21572407
MIRT502859	hsa-miR-383-5p	PAR-CLIP	21572407
MIRT502858	hsa-miR-5694	PAR-CLIP	21572407
MIRT502857	hsa-miR-6074	PAR-CLIP	21572407
MIRT558798	hsa-miR-205-3p	PAR-CLIP	21572407
MIRT502856	hsa-miR-5697	PAR-CLIP	21572407
MIRT558797	hsa-miR-3919	PAR-CLIP	21572407
MIRT558796	hsa-miR-4756-3p	PAR-CLIP	21572407
MIRT502855	hsa-miR-8068	PAR-CLIP	21572407
MIRT502854	hsa-miR-1297	PAR-CLIP	21572407
MIRT502853	hsa-miR-26a-5p	PAR-CLIP	21572407
MIRT502852	hsa-miR-26b-5p	PAR-CLIP	21572407
MIRT502851	hsa-miR-4465	PAR-CLIP	21572407
MIRT502850	hsa-miR-513a-5p	PAR-CLIP	21572407
MIRT502849	hsa-miR-2053	PAR-CLIP	21572407
MIRT558795	hsa-miR-3942-3p	PAR-CLIP	21572407
MIRT502867	hsa-miR-128-3p	PAR-CLIP	21572407
MIRT502866	hsa-miR-27b-3p	PAR-CLIP	21572407
MIRT502865	hsa-miR-216a-3p	PAR-CLIP	21572407
MIRT502864	hsa-miR-3681-3p	PAR-CLIP	21572407
MIRT502863	hsa-miR-27a-3p	PAR-CLIP	21572407
MIRT502862	hsa-miR-4803	PAR-CLIP	21572407
MIRT502861	hsa-miR-595	PAR-CLIP	21572407
MIRT502860	hsa-miR-376c-3p	PAR-CLIP	21572407
MIRT502859	hsa-miR-383-5p	PAR-CLIP	21572407
MIRT502858	hsa-miR-5694	PAR-CLIP	21572407
MIRT502857	hsa-miR-6074	PAR-CLIP	21572407
MIRT502856	hsa-miR-5697	PAR-CLIP	21572407
MIRT502855	hsa-miR-8068	PAR-CLIP	21572407
MIRT502854	hsa-miR-1297	PAR-CLIP	21572407
MIRT502853	hsa-miR-26a-5p	PAR-CLIP	21572407
MIRT502852	hsa-miR-26b-5p	PAR-CLIP	21572407
MIRT502851	hsa-miR-4465	PAR-CLIP	21572407
MIRT502850	hsa-miR-513a-5p	PAR-CLIP	21572407
MIRT502849	hsa-miR-2053	PAR-CLIP	21572407
MIRT548924	hsa-miR-19a-3p	PAR-CLIP	21572407
MIRT548923	hsa-miR-19b-3p	PAR-CLIP	21572407
MIRT548924	hsa-miR-19a-3p	PAR-CLIP	21572407
MIRT548923	hsa-miR-19b-3p	PAR-CLIP	21572407
MIRT548922	hsa-miR-548n	PAR-CLIP	21572407
MIRT548921	hsa-miR-548a-5p	PAR-CLIP	21572407
MIRT548920	hsa-miR-548ab	PAR-CLIP	21572407
MIRT548919	hsa-miR-548ad-5p	PAR-CLIP	21572407
MIRT548918	hsa-miR-548ae-5p	PAR-CLIP	21572407
MIRT548917	hsa-miR-548ak	PAR-CLIP	21572407
MIRT548916	hsa-miR-548am-5p	PAR-CLIP	21572407
MIRT548915	hsa-miR-548ap-5p	PAR-CLIP	21572407
MIRT548914	hsa-miR-548aq-5p	PAR-CLIP	21572407
MIRT548913	hsa-miR-548ar-5p	PAR-CLIP	21572407
MIRT548912	hsa-miR-548as-5p	PAR-CLIP	21572407
MIRT548911	hsa-miR-548au-5p	PAR-CLIP	21572407
MIRT548910	hsa-miR-548ay-5p	PAR-CLIP	21572407
MIRT548909	hsa-miR-548b-5p	PAR-CLIP	21572407
MIRT548908	hsa-miR-548bb-5p	PAR-CLIP	21572407
MIRT548907	hsa-miR-548c-5p	PAR-CLIP	21572407
MIRT548906	hsa-miR-548d-5p	PAR-CLIP	21572407
MIRT548905	hsa-miR-548h-5p	PAR-CLIP	21572407
MIRT548904	hsa-miR-548i	PAR-CLIP	21572407
MIRT548903	hsa-miR-548j-5p	PAR-CLIP	21572407
MIRT548902	hsa-miR-548o-5p	PAR-CLIP	21572407
MIRT548901	hsa-miR-548w	PAR-CLIP	21572407
MIRT548900	hsa-miR-548y	PAR-CLIP	21572407
MIRT548899	hsa-miR-559	PAR-CLIP	21572407
MIRT548898	hsa-miR-519a-3p	PAR-CLIP	21572407
MIRT548897	hsa-miR-519b-3p	PAR-CLIP	21572407
MIRT548896	hsa-miR-519c-3p	PAR-CLIP	21572407
MIRT548895	hsa-miR-130a-3p	PAR-CLIP	21572407
MIRT548894	hsa-miR-130b-3p	PAR-CLIP	21572407
MIRT548893	hsa-miR-301a-3p	PAR-CLIP	21572407
MIRT548892	hsa-miR-301b-3p	PAR-CLIP	21572407
MIRT548891	hsa-miR-3666	PAR-CLIP	21572407
MIRT548890	hsa-miR-4295	PAR-CLIP	21572407
MIRT548889	hsa-miR-454-3p	PAR-CLIP	21572407
MIRT548888	hsa-miR-6736-3p	PAR-CLIP	21572407
MIRT548887	hsa-miR-3691-3p	PAR-CLIP	21572407
MIRT548886	hsa-miR-5695	PAR-CLIP	21572407
MIRT548885	hsa-miR-548aj-5p	PAR-CLIP	21572407
MIRT548884	hsa-miR-548f-5p	PAR-CLIP	21572407
MIRT548883	hsa-miR-548g-5p	PAR-CLIP	21572407
MIRT548882	hsa-miR-548x-5p	PAR-CLIP	21572407
MIRT548881	hsa-miR-1468-3p	PAR-CLIP	21572407
MIRT548880	hsa-miR-548aw	PAR-CLIP	21572407
MIRT548878	hsa-miR-2113	PAR-CLIP	21572407
MIRT548879	hsa-miR-548q	PAR-CLIP	21572407
MIRT538585	hsa-miR-7153-3p	PAR-CLIP	22012620
MIRT538586	hsa-miR-3680-5p	PAR-CLIP	22012620
MIRT538584	hsa-miR-4999-3p	PAR-CLIP	22012620
MIRT502867	hsa-miR-128-3p	PAR-CLIP	24398324
MIRT502866	hsa-miR-27b-3p	PAR-CLIP	24398324
MIRT502865	hsa-miR-216a-3p	PAR-CLIP	24398324
MIRT502864	hsa-miR-3681-3p	PAR-CLIP	24398324
MIRT502863	hsa-miR-27a-3p	PAR-CLIP	24398324
MIRT502862	hsa-miR-4803	PAR-CLIP	24398324
MIRT502861	hsa-miR-595	PAR-CLIP	24398324
MIRT502860	hsa-miR-376c-3p	PAR-CLIP	24398324
MIRT502859	hsa-miR-383-5p	PAR-CLIP	24398324
MIRT502858	hsa-miR-5694	PAR-CLIP	24398324
MIRT502857	hsa-miR-6074	PAR-CLIP	24398324
MIRT502856	hsa-miR-5697	PAR-CLIP	24398324
MIRT502855	hsa-miR-8068	PAR-CLIP	24398324
MIRT502854	hsa-miR-1297	PAR-CLIP	24398324
MIRT502853	hsa-miR-26a-5p	PAR-CLIP	24398324
MIRT502852	hsa-miR-26b-5p	PAR-CLIP	24398324
MIRT502851	hsa-miR-4465	PAR-CLIP	24398324
MIRT502850	hsa-miR-513a-5p	PAR-CLIP	24398324
MIRT502849	hsa-miR-2053	PAR-CLIP	24398324
MIRT502867	hsa-miR-128-3p	PAR-CLIP	20371350
MIRT502866	hsa-miR-27b-3p	PAR-CLIP	20371350
MIRT502865	hsa-miR-216a-3p	PAR-CLIP	20371350
MIRT502864	hsa-miR-3681-3p	PAR-CLIP	20371350
MIRT502863	hsa-miR-27a-3p	PAR-CLIP	20371350
MIRT502862	hsa-miR-4803	PAR-CLIP	20371350
MIRT502861	hsa-miR-595	PAR-CLIP	20371350
MIRT502860	hsa-miR-376c-3p	PAR-CLIP	20371350
MIRT502859	hsa-miR-383-5p	PAR-CLIP	20371350
MIRT502858	hsa-miR-5694	PAR-CLIP	20371350
MIRT502857	hsa-miR-6074	PAR-CLIP	20371350
MIRT502856	hsa-miR-5697	PAR-CLIP	20371350
MIRT502855	hsa-miR-8068	PAR-CLIP	20371350
MIRT502854	hsa-miR-1297	PAR-CLIP	20371350
MIRT502853	hsa-miR-26a-5p	PAR-CLIP	20371350
MIRT502852	hsa-miR-26b-5p	PAR-CLIP	20371350
MIRT502851	hsa-miR-4465	PAR-CLIP	20371350
MIRT502850	hsa-miR-513a-5p	PAR-CLIP	20371350
MIRT502849	hsa-miR-2053	PAR-CLIP	20371350
MIRT548924	hsa-miR-19a-3p	PAR-CLIP	20371350
MIRT548923	hsa-miR-19b-3p	PAR-CLIP	20371350
MIRT548924	hsa-miR-19a-3p	PAR-CLIP	20371350
MIRT548923	hsa-miR-19b-3p	PAR-CLIP	20371350
MIRT548922	hsa-miR-548n	PAR-CLIP	20371350
MIRT568101	hsa-miR-548an	PAR-CLIP	20371350
MIRT548921	hsa-miR-548a-5p	PAR-CLIP	20371350
MIRT548920	hsa-miR-548ab	PAR-CLIP	20371350
MIRT548919	hsa-miR-548ad-5p	PAR-CLIP	20371350
MIRT548918	hsa-miR-548ae-5p	PAR-CLIP	20371350
MIRT548917	hsa-miR-548ak	PAR-CLIP	20371350
MIRT548916	hsa-miR-548am-5p	PAR-CLIP	20371350
MIRT548915	hsa-miR-548ap-5p	PAR-CLIP	20371350
MIRT548914	hsa-miR-548aq-5p	PAR-CLIP	20371350
MIRT548913	hsa-miR-548ar-5p	PAR-CLIP	20371350
MIRT548912	hsa-miR-548as-5p	PAR-CLIP	20371350
MIRT548911	hsa-miR-548au-5p	PAR-CLIP	20371350
MIRT548910	hsa-miR-548ay-5p	PAR-CLIP	20371350
MIRT548909	hsa-miR-548b-5p	PAR-CLIP	20371350
MIRT548908	hsa-miR-548bb-5p	PAR-CLIP	20371350
MIRT548907	hsa-miR-548c-5p	PAR-CLIP	20371350
MIRT548906	hsa-miR-548d-5p	PAR-CLIP	20371350
MIRT548905	hsa-miR-548h-5p	PAR-CLIP	20371350
MIRT548904	hsa-miR-548i	PAR-CLIP	20371350
MIRT548903	hsa-miR-548j-5p	PAR-CLIP	20371350
MIRT548902	hsa-miR-548o-5p	PAR-CLIP	20371350
MIRT548901	hsa-miR-548w	PAR-CLIP	20371350
MIRT548900	hsa-miR-548y	PAR-CLIP	20371350
MIRT548899	hsa-miR-559	PAR-CLIP	20371350
MIRT568100	hsa-miR-124-3p	PAR-CLIP	20371350
MIRT548898	hsa-miR-519a-3p	PAR-CLIP	20371350
MIRT548897	hsa-miR-519b-3p	PAR-CLIP	20371350
MIRT548896	hsa-miR-519c-3p	PAR-CLIP	20371350
MIRT568099	hsa-miR-5582-5p	PAR-CLIP	20371350
MIRT548895	hsa-miR-130a-3p	PAR-CLIP	20371350
MIRT548894	hsa-miR-130b-3p	PAR-CLIP	20371350
MIRT548893	hsa-miR-301a-3p	PAR-CLIP	20371350
MIRT548892	hsa-miR-301b-3p	PAR-CLIP	20371350
MIRT548891	hsa-miR-3666	PAR-CLIP	20371350
MIRT548890	hsa-miR-4295	PAR-CLIP	20371350
MIRT548889	hsa-miR-454-3p	PAR-CLIP	20371350
MIRT548888	hsa-miR-6736-3p	PAR-CLIP	20371350
MIRT548887	hsa-miR-3691-3p	PAR-CLIP	20371350
MIRT548886	hsa-miR-5695	PAR-CLIP	20371350
MIRT548885	hsa-miR-548aj-5p	PAR-CLIP	20371350
MIRT548884	hsa-miR-548f-5p	PAR-CLIP	20371350
MIRT548883	hsa-miR-548g-5p	PAR-CLIP	20371350
MIRT548882	hsa-miR-548x-5p	PAR-CLIP	20371350
MIRT548881	hsa-miR-1468-3p	PAR-CLIP	20371350
MIRT548880	hsa-miR-548aw	PAR-CLIP	20371350
MIRT548878	hsa-miR-2113	PAR-CLIP	20371350
MIRT548879	hsa-miR-548q	PAR-CLIP	20371350
MIRT502867	hsa-miR-128-3p	PAR-CLIP	21572407
MIRT502866	hsa-miR-27b-3p	PAR-CLIP	21572407
MIRT502865	hsa-miR-216a-3p	PAR-CLIP	21572407
MIRT502864	hsa-miR-3681-3p	PAR-CLIP	21572407
MIRT502863	hsa-miR-27a-3p	PAR-CLIP	21572407
MIRT502862	hsa-miR-4803	PAR-CLIP	21572407
MIRT502861	hsa-miR-595	PAR-CLIP	21572407
MIRT502860	hsa-miR-376c-3p	PAR-CLIP	21572407
MIRT502859	hsa-miR-383-5p	PAR-CLIP	21572407
MIRT502858	hsa-miR-5694	PAR-CLIP	21572407
MIRT502857	hsa-miR-6074	PAR-CLIP	21572407
MIRT558798	hsa-miR-205-3p	PAR-CLIP	21572407
MIRT502856	hsa-miR-5697	PAR-CLIP	21572407
MIRT558797	hsa-miR-3919	PAR-CLIP	21572407
MIRT558796	hsa-miR-4756-3p	PAR-CLIP	21572407
MIRT502855	hsa-miR-8068	PAR-CLIP	21572407
MIRT502854	hsa-miR-1297	PAR-CLIP	21572407
MIRT502853	hsa-miR-26a-5p	PAR-CLIP	21572407
MIRT502852	hsa-miR-26b-5p	PAR-CLIP	21572407
MIRT502851	hsa-miR-4465	PAR-CLIP	21572407
MIRT502850	hsa-miR-513a-5p	PAR-CLIP	21572407
MIRT502849	hsa-miR-2053	PAR-CLIP	21572407
MIRT558795	hsa-miR-3942-3p	PAR-CLIP	21572407
MIRT502867	hsa-miR-128-3p	PAR-CLIP	21572407
MIRT502866	hsa-miR-27b-3p	PAR-CLIP	21572407
MIRT502865	hsa-miR-216a-3p	PAR-CLIP	21572407
MIRT502864	hsa-miR-3681-3p	PAR-CLIP	21572407
MIRT502863	hsa-miR-27a-3p	PAR-CLIP	21572407
MIRT502862	hsa-miR-4803	PAR-CLIP	21572407
MIRT502861	hsa-miR-595	PAR-CLIP	21572407
MIRT502860	hsa-miR-376c-3p	PAR-CLIP	21572407
MIRT502859	hsa-miR-383-5p	PAR-CLIP	21572407
MIRT502858	hsa-miR-5694	PAR-CLIP	21572407
MIRT502857	hsa-miR-6074	PAR-CLIP	21572407
MIRT502856	hsa-miR-5697	PAR-CLIP	21572407
MIRT502855	hsa-miR-8068	PAR-CLIP	21572407
MIRT502854	hsa-miR-1297	PAR-CLIP	21572407
MIRT502853	hsa-miR-26a-5p	PAR-CLIP	21572407
MIRT502852	hsa-miR-26b-5p	PAR-CLIP	21572407
MIRT502851	hsa-miR-4465	PAR-CLIP	21572407
MIRT502850	hsa-miR-513a-5p	PAR-CLIP	21572407
MIRT502849	hsa-miR-2053	PAR-CLIP	21572407
MIRT548924	hsa-miR-19a-3p	PAR-CLIP	21572407
MIRT548923	hsa-miR-19b-3p	PAR-CLIP	21572407
MIRT548924	hsa-miR-19a-3p	PAR-CLIP	21572407
MIRT548923	hsa-miR-19b-3p	PAR-CLIP	21572407
MIRT548922	hsa-miR-548n	PAR-CLIP	21572407
MIRT548921	hsa-miR-548a-5p	PAR-CLIP	21572407
MIRT548920	hsa-miR-548ab	PAR-CLIP	21572407
MIRT548919	hsa-miR-548ad-5p	PAR-CLIP	21572407
MIRT548918	hsa-miR-548ae-5p	PAR-CLIP	21572407
MIRT548917	hsa-miR-548ak	PAR-CLIP	21572407
MIRT548916	hsa-miR-548am-5p	PAR-CLIP	21572407
MIRT548915	hsa-miR-548ap-5p	PAR-CLIP	21572407
MIRT548914	hsa-miR-548aq-5p	PAR-CLIP	21572407
MIRT548913	hsa-miR-548ar-5p	PAR-CLIP	21572407
MIRT548912	hsa-miR-548as-5p	PAR-CLIP	21572407
MIRT548911	hsa-miR-548au-5p	PAR-CLIP	21572407
MIRT548910	hsa-miR-548ay-5p	PAR-CLIP	21572407
MIRT548909	hsa-miR-548b-5p	PAR-CLIP	21572407
MIRT548908	hsa-miR-548bb-5p	PAR-CLIP	21572407
MIRT548907	hsa-miR-548c-5p	PAR-CLIP	21572407
MIRT548906	hsa-miR-548d-5p	PAR-CLIP	21572407
MIRT548905	hsa-miR-548h-5p	PAR-CLIP	21572407
MIRT548904	hsa-miR-548i	PAR-CLIP	21572407
MIRT548903	hsa-miR-548j-5p	PAR-CLIP	21572407
MIRT548902	hsa-miR-548o-5p	PAR-CLIP	21572407
MIRT548901	hsa-miR-548w	PAR-CLIP	21572407
MIRT548900	hsa-miR-548y	PAR-CLIP	21572407
MIRT548899	hsa-miR-559	PAR-CLIP	21572407
MIRT548898	hsa-miR-519a-3p	PAR-CLIP	21572407
MIRT548897	hsa-miR-519b-3p	PAR-CLIP	21572407
MIRT548896	hsa-miR-519c-3p	PAR-CLIP	21572407
MIRT548895	hsa-miR-130a-3p	PAR-CLIP	21572407
MIRT548894	hsa-miR-130b-3p	PAR-CLIP	21572407
MIRT548893	hsa-miR-301a-3p	PAR-CLIP	21572407
MIRT548892	hsa-miR-301b-3p	PAR-CLIP	21572407
MIRT548891	hsa-miR-3666	PAR-CLIP	21572407
MIRT548890	hsa-miR-4295	PAR-CLIP	21572407
MIRT548889	hsa-miR-454-3p	PAR-CLIP	21572407
MIRT548888	hsa-miR-6736-3p	PAR-CLIP	21572407
MIRT548887	hsa-miR-3691-3p	PAR-CLIP	21572407
MIRT548886	hsa-miR-5695	PAR-CLIP	21572407
MIRT548885	hsa-miR-548aj-5p	PAR-CLIP	21572407
MIRT548884	hsa-miR-548f-5p	PAR-CLIP	21572407
MIRT548883	hsa-miR-548g-5p	PAR-CLIP	21572407
MIRT548882	hsa-miR-548x-5p	PAR-CLIP	21572407
MIRT548881	hsa-miR-1468-3p	PAR-CLIP	21572407
MIRT548880	hsa-miR-548aw	PAR-CLIP	21572407
MIRT548878	hsa-miR-2113	PAR-CLIP	21572407
MIRT548879	hsa-miR-548q	PAR-CLIP	21572407
MIRT538585	hsa-miR-7153-3p	PAR-CLIP	22012620
MIRT538586	hsa-miR-3680-5p	PAR-CLIP	22012620
MIRT538584	hsa-miR-4999-3p	PAR-CLIP	22012620
MIRT502867	hsa-miR-128-3p	PAR-CLIP	24398324
MIRT502866	hsa-miR-27b-3p	PAR-CLIP	24398324
MIRT502865	hsa-miR-216a-3p	PAR-CLIP	24398324
MIRT502864	hsa-miR-3681-3p	PAR-CLIP	24398324
MIRT502863	hsa-miR-27a-3p	PAR-CLIP	24398324
MIRT502862	hsa-miR-4803	PAR-CLIP	24398324
MIRT502861	hsa-miR-595	PAR-CLIP	24398324
MIRT502860	hsa-miR-376c-3p	PAR-CLIP	24398324
MIRT502859	hsa-miR-383-5p	PAR-CLIP	24398324
MIRT502858	hsa-miR-5694	PAR-CLIP	24398324
MIRT502857	hsa-miR-6074	PAR-CLIP	24398324
MIRT502856	hsa-miR-5697	PAR-CLIP	24398324
MIRT502855	hsa-miR-8068	PAR-CLIP	24398324
MIRT502854	hsa-miR-1297	PAR-CLIP	24398324
MIRT502853	hsa-miR-26a-5p	PAR-CLIP	24398324
MIRT502852	hsa-miR-26b-5p	PAR-CLIP	24398324
MIRT502851	hsa-miR-4465	PAR-CLIP	24398324
MIRT502850	hsa-miR-513a-5p	PAR-CLIP	24398324
MIRT502849	hsa-miR-2053	PAR-CLIP	24398324
MIRT2502783	hsa-miR-3163	CLIP-seq
MIRT2502784	hsa-miR-3938	CLIP-seq
MIRT2502785	hsa-miR-4797-5p	CLIP-seq
MIRT2502786	hsa-miR-759	CLIP-seq
MIRT2502787	hsa-miR-944	CLIP-seq

Show/Hide all (3)

Transcription factor	Regulation	Reference
E2F1	Activation	15024084
MYC	Activation	23269272
TP53	Repression	10531348

Show/Hide all (77)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000045	Process	Autophagosome assembly	IDA	37943659
GO:0000045	Process	Autophagosome assembly	IMP	22170151
GO:0000077	Process	DNA damage checkpoint signaling	IEA
GO:0000077	Process	DNA damage checkpoint signaling	TAS	9889122, 10617473
GO:0000086	Process	G2/M transition of mitotic cell cycle	IMP	16481012
GO:0000166	Function	Nucleotide binding	IEA
GO:0000781	Component	Chromosome, telomeric region	IDA	15149599
GO:0004672	Function	Protein kinase activity	IEA
GO:0004674	Function	Protein serine/threonine kinase activity	IBA
GO:0004674	Function	Protein serine/threonine kinase activity	IDA	12717439, 16794575, 37943659
GO:0004674	Function	Protein serine/threonine kinase activity	IEA
GO:0004674	Function	Protein serine/threonine kinase activity	TAS	9836640
GO:0005515	Function	Protein binding	IPI	11298456, 12402044, 12493754, 15380617, 16477038, 17157788, 17380128, 17525332, 18644861, 18667510, 18971944, 20126263, 21070773, 22046132, 23178491, 24825908, 25640309, 25749521, 34591612, 37219487, 39009827
GO:0005524	Function	ATP binding	IEA
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	IEA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005737	Component	Cytoplasm	IBA
GO:0005794	Component	Golgi apparatus	IDA
GO:0006281	Process	DNA repair	IEA
GO:0006302	Process	Double-strand break repair	IMP	18317453
GO:0006302	Process	Double-strand break repair	TAS
GO:0006355	Process	Regulation of DNA-templated transcription	IDA	12717439
GO:0006468	Process	Protein phosphorylation	IDA	12717439, 18833288
GO:0006915	Process	Apoptotic process	IEA
GO:0006974	Process	DNA damage response	IDA	24550317
GO:0006974	Process	DNA damage response	IEA
GO:0006974	Process	DNA damage response	IMP	16481012
GO:0006974	Process	DNA damage response	TAS	9836640, 9889122
GO:0006979	Process	Response to oxidative stress	IDA	37943659
GO:0008630	Process	Intrinsic apoptotic signaling pathway in response to DNA damage	IDA	12402044
GO:0008630	Process	Intrinsic apoptotic signaling pathway in response to DNA damage	IEA
GO:0008630	Process	Intrinsic apoptotic signaling pathway in response to DNA damage	IMP	12717439, 18644861
GO:0010332	Process	Response to gamma radiation	IEA
GO:0016301	Function	Kinase activity	IEA
GO:0016605	Component	PML body	IDA	12402044
GO:0016605	Component	PML body	IEA
GO:0016740	Function	Transferase activity	IEA
GO:0019901	Function	Protein kinase binding	IPI	16481012
GO:0030163	Process	Protein catabolic process	IMP	11298456
GO:0030330	Process	DNA damage response, signal transduction by p53 class mediator	IEA
GO:0030330	Process	DNA damage response, signal transduction by p53 class mediator	TAS
GO:0031573	Process	Mitotic intra-S DNA damage checkpoint signaling	IMP	11298456
GO:0031625	Function	Ubiquitin protein ligase binding	IPI	22266820
GO:0033554	Process	Cellular response to stress	IDA	37943659
GO:0033554	Process	Cellular response to stress	IDA	37943659
GO:0042176	Process	Regulation of protein catabolic process	IMP	17101782
GO:0042594	Process	Response to starvation	IDA	37943659
GO:0042770	Process	Signal transduction in response to DNA damage	IDA	14744935
GO:0042770	Process	Signal transduction in response to DNA damage	IEA
GO:0042770	Process	Signal transduction in response to DNA damage	IEA
GO:0042770	Process	Signal transduction in response to DNA damage	IMP	11298456
GO:0042771	Process	Intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator	IEA
GO:0042802	Function	Identical protein binding	IPI	16794575, 18239682
GO:0042803	Function	Protein homodimerization activity	IDA	16794575
GO:0044773	Process	Mitotic DNA damage checkpoint signaling	IBA
GO:0045893	Process	Positive regulation of DNA-templated transcription	IDA	17101782
GO:0046777	Process	Protein autophosphorylation	IDA	16794575, 18644861
GO:0046872	Function	Metal ion binding	IEA
GO:0050821	Process	Protein stabilization	IDA	12717439, 18833288
GO:0051301	Process	Cell division	IEA
GO:0070242	Process	Thymocyte apoptotic process	IEA
GO:0070534	Process	Protein K63-linked ubiquitination	IDA	37943659
GO:0071466	Process	Cellular response to xenobiotic stimulus	IEA
GO:0071480	Process	Cellular response to gamma radiation	IEA
GO:0090307	Process	Mitotic spindle assembly	IMP	20364141
GO:0090399	Process	Replicative senescence	NAS	15149599
GO:0106310	Function	Protein serine kinase activity	IEA
GO:1901796	Process	Regulation of signal transduction by p53 class mediator	TAS
GO:1903416	Process	Response to glycoside	IEA
GO:1903926	Process	Cellular response to bisphenol A	IEA
GO:2000002	Process	Negative regulation of DNA damage checkpoint	IEA
GO:2000210	Process	Positive regulation of anoikis	IEA
GO:2000785	Process	Regulation of autophagosome assembly	IDA	37943659
GO:2000786	Process	Positive regulation of autophagosome assembly	IDA	37943659

MIM	HGNC	e!Ensembl
604373	16627	ENSG00000183765

O96017

Protein name

Serine/threonine-protein kinase Chk2 (EC 2.7.11.1) (CHK2 checkpoint homolog) (Cds1 homolog) (Hucds1) (hCds1) (Checkpoint kinase 2)

Protein function

Serine/threonine-protein kinase which is required for checkpoint-mediated cell cycle arrest, activation of DNA repair and apoptosis in response to the presence of DNA double-strand breaks. May also negatively regulate cell cycle progression duri

PDB

1GXC , 2CN5 , 2CN8 , 2W0J , 2W7X , 2WTC , 2WTD , 2WTI , 2WTJ , 2XBJ , 2XK9 , 2XM8 , 2XM9 , 2YCF , 2YCQ , 2YCR , 2YCS , 2YIQ , 2YIR , 2YIT , 3I6U , 3I6W , 3VA4 , 4A9R , 4A9S , 4A9T , 4A9U , 4BDA , 4BDB , 4BDC , 4BDD , 4BDE , 4BDF , 4BDG , 4BDH , 4BDI , 4BDJ , 4BDK

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00498	FHA	113 → 192	FHA domain	Family
PF00069	Pkinase	220 → 486	Protein kinase domain	Domain

Tissue specificity

TISSUE SPECIFICITY: High expression is found in testis, spleen, colon and peripheral blood leukocytes. Low expression is found in other tissues.

Sequence

MSRESDVEAQQSHGSSACSQPHGSVTQSQGSSSQSQGISSSSTSTMPNSSQSSHSSSGTL
SSLETVSTQELYSIPEDQEPEDQEPEEPTPAPWARLWALQDGFANLECVNDNYWFGRDKS
CEYCFDEPLLKRTDKYRTYSKKHFRIFREVGPKNSYIAYIEDHSGNGTFVNTELVGKGKR
RPLNNNSEIALSLSRNKVFVFFDLTVDDQSVYPKALRDEYIMSKTLGSGACGEVKLAFER
KTCKKVAIKIISKRKFAIGSAREADPALNVETEIEILKKLNHPCIIKIKNFFDAEDYYIV
LELMEGGELFDKVVGNKRLKEATCKLYFYQMLLAVQYLHENGIIHRDLKPENVLLSSQEE
DCLIKITDFGHSKILGETSLMRTLCGTPTYLAPEVLVSVGTAGYNRAVDCWSLGVILFIC
LSGYPPFSEHRTQVSLKDQITSGKYNFIPEVWAEVSEKALDLVKKLLVVDPKARFTTEEA
LRHPWLQDEDMKRKFQDLLSEENESTALPQVLAQPSTSRKRPREGEAEGAETTKRPAVCA
AVL

Sequence length

543

Interactions

View interactions

	KEGG		Reactome
	Cell cycle p53 signaling pathway Cellular senescence Human T-cell leukemia virus 1 infection		Recruitment and ATM-mediated phosphorylation of repair and signaling proteins at DNA double strand breaks Regulation of TP53 Activity through Phosphorylation Regulation of TP53 Degradation Regulation of TP53 Activity through Methylation G2/M DNA damage checkpoint Stabilization of p53 Ubiquitin Mediated Degradation of Phosphorylated Cdc25A Chk1/Chk2(Cds1) mediated inactivation of Cyclin B:Cdk1 complex

107

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 (46)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Bone osteosarcoma	Likely pathogenic; Pathogenic	rs2053419665, rs121908698, rs587780174, rs200432447, rs28909982, rs536907995, rs587781269, rs587781705, rs587782401, rs587782471, rs72552322, rs587782849, rs730881700, rs730881687, rs730881701 View all (16 more)	RCV002499777 RCV005394377 RCV005003476 RCV004796022 RCV005003477 View all (27 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Breast and colorectal cancer, susceptibility to	Likely pathogenic; Pathogenic	rs200432447, rs121908698, rs587782070, rs72552322	RCV000210124 RCV000210090 RCV001267682 RCV000210071	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Breast and/or ovarian cancer	Likely pathogenic; Pathogenic	rs2146151890, rs587780174, rs200432447, rs28909982, rs121908698, rs587782245, rs587782766, rs786202497, rs137853007, rs371418985, rs2517798558, rs200917541, rs1298667185, rs779844113, rs749153163, rs2054330803 View all (1 more)	RCV001799077 RCV003149809 RCV001798352 RCV001798355 RCV001270936 View all (11 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Breast cancer, susceptibility to	Likely pathogenic; Pathogenic	rs28909982, rs121908698, rs587782401, rs765080766, rs886039609, rs1555926996	RCV001258041 RCV000501923 RCV001258067 RCV001258068 RCV001258052 RCV001258053 View all (1 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Breast carcinoma	Likely pathogenic; Pathogenic	rs2145951528, rs2146005460, rs121908698, rs536907995, rs756949505, rs72552322, rs587782849, rs878854926	RCV001648489 RCV001663391 RCV001554253 RCV001640105 RCV002267643 RCV001554290 RCV001554293 RCV001579299 View all (3 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Breast neoplasm	Pathogenic; Likely pathogenic	rs1555913881, rs1601702086	RCV000677874 RCV000850310	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Breast-ovarian cancer, familial, susceptibility to, 1	Likely pathogenic; Pathogenic	rs121908698, rs587782070, rs786203458, rs137853007, rs764884641, rs371418985, rs756250205, rs876659519	RCV005246647 RCV004668792 RCV005246744 RCV005861015 RCV004668848 RCV005416113 RCV005861084 RCV005246836 View all (3 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Cancer or benign tumor	Likely pathogenic; Pathogenic	rs587780174	RCV005625293	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Carcinoma of pancreas	Likely pathogenic; Pathogenic	rs764884641	RCV001391210	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
CHEK2-related cancer predisposition	Likely pathogenic; Pathogenic	rs2053419665, rs2145951385, rs121908698, rs587780174, rs200432447, rs28909982, rs587780183, rs536907995, rs756949505, rs587781269, rs587781705, rs200928781, rs587782401, rs587782471, rs72552322 View all (34 more)	RCV002499777 RCV004822380 RCV005394377 RCV003313937 RCV001705822 View all (45 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
CHEK2-related disorder	Likely pathogenic; Pathogenic	rs587780174, rs28909982, rs121908698, rs2146156838, rs587781269, rs587782245, rs587782471, rs587782849, rs730881700, rs2517805482, rs765080766	RCV004737198 RCV003114263 RCV004737199 RCV004538646 RCV004737213 View all (6 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Childhood neoplasm	Likely pathogenic; Pathogenic	rs587782245	RCV005625309	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Colon adenocarcinoma	Likely pathogenic	rs1601822717	RCV005912395	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Colorectal cancer	Likely pathogenic; Pathogenic	rs2053419665, rs121908698, rs587780183, rs587781269, rs587782245, rs730881687, rs748005072, rs121908702, rs786203229, rs376736188	RCV002499777 RCV002463642 RCV002288601 RCV002505102 RCV001814065 View all (5 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Congenital heart defects, multiple types, 3	Likely pathogenic; Pathogenic	rs730881701	RCV001007871	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Endometrial carcinoma	Likely pathogenic; Pathogenic	rs121908698, rs764884641	RCV003128145 RCV003128154	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Familial cancer of breast	Pathogenic; Likely pathogenic	rs2145815434, rs2145748275, rs2052240942, rs2145748708, rs1483241325, rs1410392419, rs2145953393, rs2053419665, rs1601715852, rs2145784977, rs2145785415, rs1555913161, rs876659827, rs2145793028, rs2145794013 View all (646 more)	RCV001355121 RCV001379781 RCV001377751 RCV001378495 RCV001377895 View all (757 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Familial ovarian cancer	Likely pathogenic; Pathogenic	rs536907995	RCV001356492	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Familial prostate cancer	Likely pathogenic; Pathogenic	rs121908698, rs587780174, rs200432447, rs28909982, rs587780183, rs536907995, rs587782471, rs72552322, rs587782849, rs730881700, rs730881687, rs748005072, rs764884641, rs2518133313, rs756250205 View all (10 more)	RCV005394377 RCV005003476 RCV004819219 RCV005003477 RCV005031611 View all (21 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Gastric cancer	Likely pathogenic; Pathogenic	rs1410392419, rs200432447, rs587781269, rs730881701, rs1248967885, rs121908703, rs878854926, rs2517962774, rs2518054435, rs1226367231, rs2517943044, rs2518008509, rs137853007, rs1060502716, rs1298667185, rs1555921011, rs1601753141 View all (2 more)	RCV003169933 RCV003162543 RCV003162571 RCV003162676 RCV003164593 View all (13 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hepatocellular carcinoma	Likely pathogenic	rs2517794678	RCV005871137	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hereditary breast ovarian cancer syndrome	Likely pathogenic; Pathogenic	rs2053419665, rs587780174, rs200432447, rs28909982, rs587781269, rs200928781, rs587782070, rs587782245, rs587782471, rs72552322, rs587782766, rs587782849, rs2145951132, rs2146152668, rs730881687 View all (32 more)	RCV004764801 RCV000585980 RCV000589100 RCV001374534 RCV002225419 View all (43 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hereditary cancer-predisposing syndrome	Pathogenic; Likely pathogenic	rs2145794195, rs2053419665, rs1601715852, rs1555913161, rs876659827, rs786203053, rs2145948828, rs2145950251, rs2146058204, rs2146144384, rs2146147030, rs2146151890, rs2145792867, rs2145816035, rs2145739661 View all (342 more)	RCV006391950 RCV002368214 RCV005532995 RCV002395874 RCV005638576 View all (408 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hereditary nonpolyposis colon cancer	Pathogenic; Likely pathogenic	rs1601719469, rs72552322, rs750616657, rs764884641, rs886039631, rs1390889028	RCV005370025 RCV005359279 RCV005359492 RCV005361156 RCV005361502 RCV005357746 View all (1 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Incidental Discovery	Likely pathogenic; Pathogenic	rs1555912044	RCV005251003	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Inherited breast cancer and ovarian cancer	Likely pathogenic; Pathogenic	rs587780174, rs28909982, rs121908698, rs536907995, rs587782245, rs730881700	RCV006270223 RCV005252761 RCV004772840 RCV004584196 RCV005237569 RCV006261951 View all (1 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Inherited prostate cancer	Likely pathogenic	rs1555915298	RCV006438424	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Li-Fraumeni syndrome	Likely pathogenic; Pathogenic	rs587781269, rs786202601, rs137853007, rs121908707	RCV005406834 RCV000588604 RCV000587420 RCV000587596	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Li-Fraumeni syndrome 1	Likely pathogenic	rs137853007	RCV003224854	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Lynch syndrome 1	Likely pathogenic	rs2517806508	RCV002282966	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Malignant lymphoma, large B-cell, diffuse	Likely pathogenic	rs1569115687	RCV003448982	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Malignant tumor of breast	Likely pathogenic; Pathogenic	rs2145750415, rs2145794195, rs2145932387, rs28909982, rs121908698, rs587781269, rs200928781, rs587782245, rs587782401, rs72552322, rs587782849, rs786203650, rs137853007, rs766416564, rs1474786480, rs864622613 View all (1 more)	RCV001356269 RCV001357386 RCV001357360 RCV001263516 RCV001354639 View all (11 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Malignant tumor of urinary bladder	Likely pathogenic; Pathogenic	rs121908698	RCV005887929	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Melanoma	Likely pathogenic; Pathogenic	rs121908698	RCV002508922	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neoplasm	Likely pathogenic	rs786203650	RCV004668868	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Nephroblastoma	Pathogenic	rs1555913934	RCV000505568	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Ovarian carcinoma	Likely pathogenic	rs545982789	RCV001644952	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Predisposition to cancer	Likely pathogenic; Pathogenic	rs587780174, rs28909982, rs587781705, rs587782471, rs72552322, rs786203458	RCV002254679 RCV001526815 RCV005055075 RCV003153427 RCV002291570 RCV004786474 View all (1 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Premature ovarian failure	Likely pathogenic; Pathogenic	rs200928781	RCV001270242	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Prostate cancer	Likely pathogenic; Pathogenic	rs2053419665, rs587780174, rs121908698, rs587781269, rs587781705, rs200928781, rs587782245, rs587782401, rs587782849, rs730881687, rs730881701, rs121908702, rs786203229, rs560596101, rs200917541	RCV002499777 RCV001542702 RCV000763475 RCV002505102 RCV000763478 View all (10 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Prostate cancer susceptibility	Likely pathogenic; Pathogenic	rs28909982, rs587782401, rs765080766, rs886039609, rs1555926996	RCV001258041 RCV001258067 RCV001258068 RCV001258052 RCV001258053	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Sarcoma	Pathogenic	rs1555927374	RCV000677872	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Thymoma	Likely pathogenic; Pathogenic	rs1060502698	RCV005899485	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Thyroid cancer, nonmedullary, 1	Likely pathogenic	rs886039721	RCV005895454	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
TUMOR PREDISPOSITION SYNDROME 4, BREAST/PROSTATE	Likely pathogenic; Pathogenic	rs121908698	RCV003333693	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Uterine corpus cancer	Likely pathogenic; Pathogenic	rs876659519	RCV003128155	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (61)

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	Conflicting classifications of pathogenicity	ClinVar GenCC	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Adrenal cortex carcinoma	Conflicting classifications of pathogenicity; risk factor	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Astrocytoma	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST CANCER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST NEOPLASMS	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST NEOPLASMS, MALE	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Breast-ovarian cancer, familial, susceptibility to, 2	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Carcinoma of colon	Conflicting classifications of pathogenicity; Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHEK2-related cancer risk	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CLONAL HEMATOPOIESIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon cancer	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colonic neoplasm	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 NEOPLASMS	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cystic fibrosis	Conflicting classifications of pathogenicity; risk factor	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diffuse midline glioma, H3 K27-altered	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ESOPHAGEAL CARCINOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ESOPHAGEAL SQUAMOUS CELL CARCINOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ESSENTIAL HYPERTENSION	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial colorectal cancer type X	Conflicting classifications of pathogenicity; Uncertain significance; Benign; Likely benign	ClinVar Orphanet	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
FEMALE INFERTILITY	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GASTRIC CARCINOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastrointestinal carcinoma	Conflicting classifications of pathogenicity; risk factor	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLAUCOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GOUT	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEREDITARY BREAST AND/OR OVARIAN CANCER SYNDROME	—	Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEREDITARY BREAST CARCINOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hereditary cancer	Conflicting classifications of pathogenicity; Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Leiomyosarcoma	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LEUKEMIA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LI-FRAUMENI SYNDROME 2	—	CTD, Disgenet, GWAS catalog CTD, Disgenet, GWAS catalog CTD, Disgenet, GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUNG ADENOCARCINOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Conflicting classifications of pathogenicity	ClinVar GWAS catalog	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Lung carcinoma	Conflicting classifications of pathogenicity	ClinVar GWAS catalog	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
LUNG NEOPLASMS	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYELOPROLIFERATIVE DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEUROBLASTOMA	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NICE approved PARP inhibitor treatment	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NK-cell enteropathy	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NON-ALCOHOLIC FATTY LIVER DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OPEN-ANGLE GLAUCOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOGENIC SARCOMA	—	HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOSARCOMA	—	CTD, Orphanet CTD, Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OVARIAN FAILURE, PREMATURE	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian neoplasm	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
POLYCYSTIC OVARY SYNDROME	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATE CANCER, FAMILIAL	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostate cancer, somatic	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATE CARCINOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATIC NEOPLASMS	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SQUAMOUS CELL CARCINOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SQUAMOUS CELL LUNG CARCINOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
STOMACH NEOPLASMS	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Triple-negative breast cancer	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TUMOR PREDISPOSITION SYNDROME 4	—	Disgenet, HPO Disgenet, HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TUMOR PREDISPOSITION SYNDROME 4, BREAST	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TUMOR PREDISPOSITION SYNDROME 4, BREAST/PROSTATE/COLORECTAL	Conflicting classifications of pathogenicity; risk factor	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
UPPER AERODIGESTIVE TRACT NEOPLASM	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
UTERINE FIBROID	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (408)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Acromegaly	Acromegaly	BEFREE	31828584		★★★★★ ★☆☆☆☆ Found in Text Mining only
Acute monocytic leukemia	Monocytic Leukemia	BEFREE	19398952		★★★★★ ★☆☆☆☆ Found in Text Mining only
Acute Promyelocytic Leukemia	Promyelocytic Leukemia	BEFREE	16835227		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adenocarcinoma	Adenocarcinoma	BEFREE	14970869		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of large intestine	Colorectal Cancer	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	BEFREE	21118151, 28373435		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of prostate	Prostate adenocarcinoma	CGI_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Adenoma	Adenoma	BEFREE	25155618		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adenoma of large intestine	Colorectal adenoma	BEFREE	14568168, 22586065		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adenomatous Polyposis Coli	Multiple polyposis syndrome	BEFREE	16858628, 18676774, 23946381, 29956755		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adrenocortical Carcinoma	Adrenocortical carcinoma	Pubtator	30413320	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Adult Diffuse Large B-Cell Lymphoma	B-cell Lymphoma	BEFREE	25843629, 29352124		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adult Hodgkin Lymphoma	Hodgkin Lymphoma	BEFREE	15153943, 21744992		★★★★★ ★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	23550703	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis	Amyotrophic lateral sclerosis	Pubtator	31575382	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Anaplastic carcinoma	Anaplastic Carcinoma	CTD_human_DG	16316942		★★★★★ ★☆☆☆☆ Found in Text Mining only
ANOPHTHALMIA AND PULMONARY HYPOPLASIA	Syndromic microphthalmia	BEFREE	30672594		★★★★★ ★☆☆☆☆ Found in Text Mining only
Appendicitis	Appendicitis	BEFREE	28277414		★★★★★ ★☆☆☆☆ Found in Text Mining only
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	15818671	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	22183962	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Ataxia Telangiectasia	Ataxia telangiectasia	Pubtator	11390408	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Ataxia Telangiectasia	Ataxia telangiectasia	Pubtator	12576328, 12855706, 12909615, 15192702, 17715138, 23638118, 25032865, 39638147, 9889122	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Ataxia Telangiectasia	Ataxia Telangiectasia	BEFREE	16809776, 16835227, 21389785, 23107892, 23770684, 24482479, 31413202		★★★★★ ★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	Pubtator	27740938	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorder	Autism	Pubtator	35773312	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
B Lymphoblastic Leukemia/Lymphoma, Not Otherwise Specified	B Lymphoblastic Leukemia/Lymphoma	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
B-Cell Lymphomas	B-Cell Lymphoma	BEFREE	28927798		★★★★★ ★☆☆☆☆ Found in Text Mining only
bilateral breast cancer	Breast Cancer	BEFREE	19124502		★★★★★ ★☆☆☆☆ Found in Text Mining only
Bipolar I disorder	Bipolar Disorder	BEFREE	9858067		★★★★★ ★☆☆☆☆ Found in Text Mining only
Bladder Neoplasm	Bladder Neoplasm	BEFREE	17918154		★★★★★ ★☆☆☆☆ Found in Text Mining only
Bladder Neoplasm	Bladder Neoplasm	LHGDN	17918154		★★★★★ ★☆☆☆☆ Found in Text Mining only
Bloom Syndrome	Bloom Syndrome	BEFREE	17634426		★★★★★ ★☆☆☆☆ Found in Text Mining only
Bloom Syndrome	Bloom Syndrome	LHGDN	17634426		★★★★★ ★☆☆☆☆ Found in Text Mining only
Bloom Syndrome	Bloom syndrome	Pubtator	17634426	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Brain Neoplasms	Brain Neoplasms	BEFREE	15057041		★★★★★ ★☆☆☆☆ Found in Text Mining only
Brain Neoplasms	Brain neoplasms	Pubtator	24767714, 28497333, 39273420	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast adenocarcinoma	Breast Adenocarcinoma	CGI_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Cancer, Familial	Breast Cancer	CLINGEN_DG	10710310, 10724175, 11857075, 12094328, 21542898, 21876083, 24713400, 26884562, 27595995		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Cancer, Familial	Breast Cancer	BEFREE	11461078, 12094328, 14618615, 15095295, 16998506, 17705858, 18484200, 18676774, 21409391, 21562711, 22114986, 22419737, 23415889, 24415413, 24595525 View all (10 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	11461078, 11857075, 11967536, 12052256, 12094328, 12409647, 12454775, 12529183, 12610780, 12917215, 14507240, 14618615, 14648717, 14701743, 14970869 View all (147 more)		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Breast Carcinoma	Breast Carcinoma	CTD_human_DG	11967536, 12690581, 15122511, 18297428		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Breast Carcinoma	Breast Carcinoma	GWASCAT_DG	25751625, 29059683		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Breast Carcinoma	Breast Carcinoma	CGI_DG			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Breast Carcinoma	Breast Carcinoma	CLINVAR_DG			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Breast Carcinoma	Breast Carcinoma	HPO_DG			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Breast Neoplasms	Breast neoplasm	Pubtator	12052256, 12094328, 12454775, 12529183, 12610780, 12690581, 14661035, 14701743, 14970869, 15122511, 15466005, 15492928, 15535844, 15700044, 16539695 View all (183 more)	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Breast Neoplasms	Breast neoplasm	Pubtator	16452195, 27484185	Inhibit	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Breast Neoplasms	Breast neoplasm	Pubtator	26534844, 30128536, 32091585, 33471974	Stimulate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Breast Neoplasms Male	Male breast neoplasms	Pubtator	15535844, 18797466, 28008555, 28808232, 28874143, 34461861, 38609177	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms Male	Male breast neoplasms	Pubtator	39889220	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms, Male	Neoplasm of male breast	CTD_human_DG	11967536		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Breast Neoplasms, Male	Neoplasm of male breast	LHGDN	17661168		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cancer of Urinary Tract	Urinary Tract Cancer	BEFREE	27632928		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	27716909, 29486482, 37161532	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoid, Goblet Cell	Carcinoma	BEFREE	28283864		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	11948492, 15361851, 16437383, 17522062, 19453842, 25417114, 26558945		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	CTD_human_DG	16316942		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Basal Cell	Basal cell carcinoma	Pubtator	30089731	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Ductal	Ductal carcinoma	Pubtator	38091153	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Ductal Breast	Ductal carcinoma of breast	Pubtator	28514723	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Embryonal	Embryonal carcinoma	Pubtator	19259937	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	22623962, 30473536, 35853969	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma in Situ	Carcinoma in situ	Pubtator	33919281	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Intraductal Noninfiltrating	Intraductal noninfiltrating carcinoma	Pubtator	31060593, 31993860, 37839337	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Merkel Cell	Merkel cell carcinoma	Pubtator	26981779	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma of bladder	Bladder carcinoma	BEFREE	17918154		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma of larynx	Laryngeal carcinoma	BEFREE	18281249		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	10987268, 11454675, 15125777, 18086781, 18281249, 19442246, 20462940, 22899653, 24880342, 27632928, 28843361		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	GWASCAT_DG	24880342		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma of Male Breast	Breast Carcinoma, male	CTD_human_DG	11967536		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma of Male Breast	Breast Carcinoma, male	BEFREE	14648717, 15488637, 17661168, 18759107, 18797466, 28008555, 28808232, 28874143, 31203460		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Ovarian Epithelial	Epithelial ovarian carcinoma	Pubtator	29020732, 30640700	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Pancreatic Ductal	Pancreatic ductal carcinoma	Pubtator	28726808, 36978154, 39793706	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	27574806, 29978187, 33442023, 33789101, 34654685, 35441217, 37628581, 38081888	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	11875739, 18086786, 33162799	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma, Basal Cell	Carcinoma	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	14507240, 15385111, 16551709, 17145815, 21120647, 23806170, 24657486, 26424751, 28874143, 28984489, 30769778, 31050813		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma, Spindle-Cell	Carcinoma	CTD_human_DG	16316942		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular disease	Pubtator	27740938	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Central Nervous System Neoplasms	Central nervous system neoplasm	Pubtator	38139220	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Chondrosarcoma	Chondrosarcoma	BEFREE	30987403		★★★★★ ★☆☆☆☆ Found in Text Mining only
Chondrosarcoma	Chondrosarcoma	Pubtator	35017658	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Chordoma	Chordoma	Pubtator	30322893	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Chordoma	Chordoma	BEFREE	30967556		★★★★★ ★☆☆☆☆ Found in Text Mining only
Chromosomal Instability	Chromosomal instability	Pubtator	26831064	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Chronic Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	16574953		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colitis	Colitis	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	11571648, 14574178, 15326376, 15963507, 16858628, 17372254, 18281249, 19609724		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic neoplasm	Pubtator	16905549	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic Neoplasms	BEFREE	17145815		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic Neoplasms	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal cancer, hereditary nonpolyposis, type 1	Colorectal Cancer	CLINGEN_DG	12690581, 15818573, 15829956, 16478982, 18676774, 18679694, 18996005, 19876921, 21807500, 24976383, 27900359, 28135145		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal Carcinoma	Colorectal Cancer	BEFREE	12690581, 14568168, 15367709, 15818573, 15852425, 16539695, 16816021, 17026620, 17106448, 17145815, 17214356, 18167186, 18676774, 18996005, 19876921 View all (12 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	CTD_human_DG	12690581		★★★★★ ★☆☆☆☆ 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	12052256, 15073169, 15492928, 16816021, 16905549, 17164383, 17214356, 18676774, 19401704, 20128802, 22294770, 24506336, 24865968, 24976383, 26318585 View all (15 more)	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal Neoplasms	Colorectal Neoplasms	LHGDN	12690581, 16816021, 17026620, 17106448, 17145815, 18167186, 18676774		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal Neoplasms	Colorectal Neoplasms	CTD_human_DG	12690581		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	29870526	Stimulate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal Neoplasms	Colorectal Neoplasms	BEFREE	30927264		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal Neoplasms Hereditary Nonpolyposis	Lynch syndrome	Pubtator	18676774, 29458332, 36356413, 37861889	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital chromosomal disease	Congenital Chromosomal Disease	BEFREE	28373435, 29902706		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	BEFREE	12702777, 19001357		★★★★★ ★☆☆☆☆ Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	BEFREE	29978187		★★★★★ ★☆☆☆☆ Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cutaneous Melanoma	Melanoma	BEFREE	15057041		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cyclic neutropenia	Cyclic neutropenia	Pubtator	29866652	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cystic Fibrosis	Cystic Fibrosis	BEFREE	23316069		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	19855918	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	19855918		★★★★★ ★☆☆☆☆ Found in Text Mining only
Differentiated Thyroid Gland Carcinoma	Thyroid Carcinoma	BEFREE	24998580		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diffuse Astrocytoma	Astrocytoma	BEFREE	20581868		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diffuse Intrinsic Pontine Glioma	Diffuse Intrinsic Pontine Glioma	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Diffuse Large B-Cell Lymphoma	Diffuse Lymphoma	BEFREE	25843629, 26506619, 29352124, 29416618		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diffuse Mixed-Cell Lymphoma	Diffuse Lymphoma	CTD_human_DG	26506619		★★★★★ ★☆☆☆☆ Found in Text Mining only
Disorder of eye	Disorder Of Eye	BEFREE	9806839		★★★★★ ★☆☆☆☆ Found in Text Mining only
EAR, PATELLA, SHORT STATURE SYNDROME	Ear Diseases	BEFREE	30595439		★★★★★ ★☆☆☆☆ Found in Text Mining only
Endocrine System Diseases	Endocrine system disease	Pubtator	37161532	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Endometrial Carcinoma	Endometrial carcinoma	BEFREE	17164260, 18834326, 21787115		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Endometrial Carcinoma	Endometrial carcinoma	CLINVAR_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Endometrial Diseases	Endometrial Diseases	BEFREE	12931023		★★★★★ ★☆☆☆☆ Found in Text Mining only
Endometrial Neoplasms	Endometrial Neoplasms	LHGDN	17164260		★★★★★ ★☆☆☆☆ Found in Text Mining only
Endometrial Neoplasms	Endometrial neoplasm	Pubtator	21787115	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Epithelial ovarian cancer	Ovarian cancer	BEFREE	26424751		★★★★★ ★☆☆☆☆ Found in Text Mining only
Esophageal carcinoma	Esophageal Carcinoma	BEFREE	22201027		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Esophageal Neoplasms	Esophagus Neoplasm	GWASDB_DG	20729852, 22960999		★★★★★ ★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophagus Neoplasm	GWASCAT_DG	20729852, 22960999		★★★★★ ★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophagus Neoplasm	BEFREE	22201027		★★★★★ ★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophageal neoplasm	Pubtator	25450480, 38039548	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Esophageal Squamous Cell Carcinoma	Esophageal squamous cell carcinoma	Pubtator	23504502, 25008389, 26039424, 26857264, 27734031, 30753320, 38039548	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ewings sarcoma-primitive neuroectodermal tumor (PNET)	Ewing sarcoma	BEFREE	30689542		★★★★★ ★☆☆☆☆ Found in Text Mining only
Familial medullary thyroid carcinoma	Thyroid cancer	Pubtator	33692755	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Familial prostate cancer	Prostate Cancer	Orphanet			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Fanconi Anemia	Fanconi anemia	Pubtator	21765476	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Fanconi Anemia	Fanconi Anemia	BEFREE	31349801		★★★★★ ★☆☆☆☆ Found in Text Mining only
Fanconi Anemia	Fanconi anemia	Pubtator	31349801	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)	Anemia	BEFREE	31349801		★★★★★ ★☆☆☆☆ Found in Text Mining only
Fibrofolliculoma	Fibrofolliculoma	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Follicular adenoma	Adenoma	BEFREE	21983636		★★★★★ ★☆☆☆☆ Found in Text Mining only
Follicular thyroid carcinoma	Follicular Thyroid Carcinoma	BEFREE	21983636		★★★★★ ★☆☆☆☆ Found in Text Mining only
Gastrointestinal Stromal Tumors	Gastrointestinal stromal tumor	BEFREE	19509155		★★★★★ ★☆☆☆☆ Found in Text Mining only
Germ cell tumor	Tumor	BEFREE	16790090, 30676620		★★★★★ ★☆☆☆☆ Found in Text Mining only
Giant Cell Arteritis	Giant Cell Arteritis	BEFREE	31127531		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glaucoma, Open-Angle	Glaucoma	GWASCAT_DG	29891935		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	LHGDN	16078115		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	17016233, 22199257, 25066726, 29348487		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	24532427, 28852018, 38272357	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	17016233, 20581868, 22199257, 29348487		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	19969004, 31758290		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	31350984	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Head and Neck Neoplasms	Head and neck neoplasm	Pubtator	23839309	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Heart failure	Heart Failure	BEFREE	12702777, 19001357		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hematologic Diseases	Hematologic disease	Pubtator	35025619	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hematologic Neoplasms	Hematologic neoplasm	Pubtator	36642751	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hereditary Breast and Ovarian Cancer Syndrome	Hereditary Breast And Ovarian Cancer Syndrome	BEFREE	14507240, 21203900, 23806170, 24065469, 30535581, 31398194		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hereditary Breast and Ovarian Cancer Syndrome	Hereditary breast and ovarian cancer syndrome	Pubtator	14507240, 15217503, 23239986, 23300655, 24065469, 24549055, 24884479, 25629968, 26976419, 27067391, 27273131, 27779110, 29271107, 29479983, 29988077 View all (20 more)	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hereditary Breast and Ovarian Cancer Syndrome	Hereditary Breast And Ovarian Cancer Syndrome	CLINVAR_DG	15649950, 16551709, 16914568, 18085035, 18571837, 18706089, 21244692, 22419737, 24506336, 24556621, 24763289, 25318351, 25503501, 26534844, 26681312 View all (10 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hereditary Breast and Ovarian Cancer Syndrome	Hereditary Breast And Ovarian Cancer Syndrome	ORPHANET_DG	21562711		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hereditary breast and ovarian cancer syndrome	Hereditary Breast And Ovarian Cancer Syndrome	Orphanet			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hereditary Diffuse Gastric Cancer	Gastric Cancer	BEFREE	11011113		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hereditary Diffuse Gastric Cancer	Gastric Cancer	CTD_human_DG	21364753		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hereditary Malignant Neoplasm	Hereditary cancer	BEFREE	17333333		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hereditary Non-Polyposis Colon Cancer Type 2	Colorectal Cancer	CLINGEN_DG	12690581, 15818573, 15829956, 16478982, 18676774, 18679694, 18996005, 19876921, 21807500, 24976383, 27900359, 28135145		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hereditary non-polyposis colorectal cancer syndrome	Hereditary nonpolyposis colorectal cancer	CLINGEN_DG	12690581, 15818573, 15829956, 16478982, 18676774, 18679694, 18996005, 19876921, 21807500, 24976383, 27900359, 28135145		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hereditary Nonpolyposis Colorectal Cancer	Colorectal Cancer	CLINGEN_DG	12690581, 15818573, 15829956, 16478982, 18676774, 18679694, 18996005, 19876921, 21807500, 24976383, 27900359, 28135145		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hereditary Nonpolyposis Colorectal Cancer	Colorectal Cancer	BEFREE	18676774, 19924528, 27443514		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hereditary Nonpolyposis Colorectal Neoplasms	Colorectal Neoplasms	CLINGEN_DG	12690581, 15818573, 15829956, 16478982, 18676774, 18679694, 18996005, 19876921, 21807500, 24976383, 27900359, 28135145		★★★★★ ★☆☆☆☆ Found in Text Mining only
High Grade Lymphoma (neoplasm)	High Grade Lymphoma	CTD_human_DG	26506619		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hodgkin Disease	Hodgkin Disease	BEFREE	12393693, 15153943, 21744992		★★★★★ ★☆☆☆☆ Found in Text Mining only
Huntington Disease	Huntington Disease	BEFREE	25489053		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hyperoxia	Hyperoxia	Pubtator	15533933	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	BEFREE	19265784		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	16478982	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Ichthyosis, X-Linked	Ichthyosis	BEFREE	14674991		★★★★★ ★☆☆☆☆ Found in Text Mining only
Idiopathic pulmonary arterial hypertension	Pulmonary arterial hypertension	BEFREE	28894083		★★★★★ ★☆☆☆☆ Found in Text Mining only
Internal Carotid Artery Stenosis	Internal Carotid Artery Stenosis	BEFREE	28045903		★★★★★ ★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney Disease	BEFREE	19265784		★★★★★ ★☆☆☆☆ Found in Text Mining only
Kidney Neoplasms	Kidney neoplasm	Pubtator	15492928, 32782288, 34499690, 36136322, 38002934	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
leiomyosarcoma	Leiomyosarcoma	CLINVAR_DG	28514723		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Leiomyosarcoma	Leiomyosarcoma	Pubtator	28514723	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
leukemia	Leukemia	LHGDN	16835227, 17030982		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
leukemia	Leukemia	BEFREE	22080164, 22516893		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Leukemia	Leukemia	Pubtator	35061527	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	12576328, 28340577, 34482403, 37450374	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia Myelomonocytic Chronic	Myelomonocytic leukemia	Pubtator	33986034	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia Promyelocytic Acute	Promyelocytic leukemia	Pubtator	18482988, 28340577	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	11248330, 19398952, 29902706		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukoplakia, Oral	Leukoplakia	BEFREE	29928356		★★★★★ ★☆☆☆☆ Found in Text Mining only
Li-Fraumeni Syndrome	Li-Fraumeni Syndrome	CLINVAR_DG	10617473, 11298456, 11719428, 12049740, 15520402, 19338683, 22419737, 27751358, 28779002		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Li-Fraumeni Syndrome	Li-Fraumeni Syndrome	CTD_human_DG	10617473, 11719428		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Li-Fraumeni Syndrome	Li-Fraumeni Syndrome	BEFREE	11011113, 11053450, 11248330, 11461078, 11479205, 11719428, 11746983, 11751432, 12052256, 12094328, 14648717, 15057041, 15695383, 15942682, 15951970 View all (4 more)		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Li-Fraumeni Syndrome	Li-Fraumeni Syndrome	LHGDN	11719428, 18004398		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Li-Fraumeni Syndrome	Li-Fraumeni Syndrome	ORPHANET_DG	11719428, 21562711		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Li-Fraumeni syndrome	Li-Fraumeni Syndrome	Orphanet			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Li-Fraumeni Syndrome 2	Li-Fraumeni Syndrome	UNIPROT_DG	11719428		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Li-Fraumeni Syndrome 2	Li-Fraumeni Syndrome	GENOMICS_ENGLAND_DG	29902706		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Li-Fraumeni Syndrome 2	Li-Fraumeni Syndrome	CTD_human_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Li-Fraumeni Syndrome 2	Li-Fraumeni Syndrome	CLINVAR_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Li-Fraumeni-Like Syndrome	Li-Fraumeni Syndrome	BEFREE	11461078		★★★★★ ★☆☆☆☆ Found in Text Mining only
Liposarcoma, Dedifferentiated	liposarcoma	BEFREE	24595525		★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	23107771, 23537372, 28360097, 30323964		★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver Failure	Liver failure	Pubtator	39519042	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver neoplasms	Liver neoplasms	BEFREE	23537372, 30323964		★★★★★ ★☆☆☆☆ Found in Text Mining only
Low Grade Lymphoma (neoplasm)	Low Grade Lymphoma	CTD_human_DG	26506619		★★★★★ ★☆☆☆☆ Found in Text Mining only
Low Tension Glaucoma	Low Tension Glaucoma	BEFREE	22584021		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	15125777	Inhibit	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung Neoplasms	Lung Neoplasms	BEFREE	16705183		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung Neoplasms	Lung Neoplasms	LHGDN	18281249		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung Neoplasms	Lung neoplasms	Pubtator	23652375, 24880342, 26943034, 27900359, 28843361, 31721094, 32457423, 33407425	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung Neoplasms	Lung Neoplasms	CTD_human_DG	24880342		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lymphoma	Lymphoma	BEFREE	11699418, 12393693, 26558945		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	LHGDN	12393693		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	Pubtator	22058216, 24498068, 32504211	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphoma, Diffuse	Lymphoma	CTD_human_DG	26506619		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphoma, Intermediate-Grade	Intermediate Grade Lymphoma	CTD_human_DG	26506619		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphoma, Mixed-Cell	Lymphoma	CTD_human_DG	26506619		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphoma, Non-Hodgkin	Non-Hodgkin lymphoma	BEFREE	26506619		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphoma, Non-Hodgkin	Non-Hodgkin lymphoma	CTD_human_DG	26506619		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphoma, Non-Hodgkin, Familial	Lymphoma	BEFREE	26506619		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphoma, Non-Hodgkin, Familial	Lymphoma	CTD_human_DG	26506619		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphoma, Small Noncleaved-Cell	Lymphoma	CTD_human_DG	26506619		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphoma, Undifferentiated	Lymphoma	CTD_human_DG	26506619		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphoproliferative Disorders	Lymphoproliferative Disorder	BEFREE	26434584		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lynch Syndrome	Lynch Syndrome	BEFREE	19924528, 27443514		★★★★★ ★☆☆☆☆ Found in Text Mining only
Maffucci Syndrome	Maffucci Syndrome	BEFREE	26123062		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	CLINVAR_DG	11053450, 11298456, 11390408, 11571648, 11719428, 12049740, 12454775, 12533788, 12610780, 12855706, 12909615, 15095295, 15122511, 15239132, 15361853 View all (70 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	11461078, 11857075, 11967536, 12052256, 12094328, 12409647, 12454775, 12529183, 12610780, 12917215, 14507240, 14618615, 14648717, 14701743, 14970869 View all (142 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	CTD_human_DG	11967536, 12690581, 15122511, 18297428		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	UNIPROT_DG	12094328, 21618645, 25619829		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	CGI_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	GENOMICS_ENGLAND_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of endometrium	Endometrial Cancer	BEFREE	17164260, 18834326, 21787115		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of esophagus	Esophagus Neoplasm	BEFREE	22201027, 30753320		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of gastrointestinal tract	Malignant gastrointestinal tract tumors	BEFREE	18281249		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of kidney	Kidney Cancer	BEFREE	24106007		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of larynx	Larynx cancer	BEFREE	18281249		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	10987268, 11454675, 15125777, 18086781, 18281249, 19442246, 20462940, 22899653, 24880342, 27632928, 28843361		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	CTD_human_DG	24880342		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	GWASDB_DG	24880342		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	14507240, 15385111, 16551709, 16828850, 17145815, 21120647, 23806170, 24240112, 24657486, 28874143, 28984489, 30769778, 31050813		★★★★★ ★☆☆☆☆ 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	20643596, 24276239, 27038244		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	12533788, 14568168, 14612911, 15087378, 15280931, 15492928, 16257342, 16835864, 16941491, 17079449, 17085682, 17372254, 17661168, 17918154, 18507002 View all (12 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	UNIPROT_DG	12533788		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	CTD_human_DG	12533788		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	GENOMICS_ENGLAND_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	11011113, 23296741, 23504502, 25176258, 29067458, 29328366		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	CTD_human_DG	21364753		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of thyroid	Thyroid cancer	BEFREE	25583358, 30269267, 31240458		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of urinary bladder	Urinary bladder cancer	BEFREE	17918154		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	11454675, 11479205, 11571648, 11699418, 11746983, 11857075, 11875739, 12094328, 12781359, 14568168, 15153943, 15361833, 15361851, 15492928, 15987456 View all (81 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Squamous Cell Neoplasm	Neoplasm	CTD_human_DG	24880342		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	11571648, 14574178, 15963507, 16858628, 17372254, 18281249, 19609724		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	UNIPROT_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Mammary Carcinoma, Human	Marfan Syndrome	CTD_human_DG	11967536, 12690581, 15122511, 18297428		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	LHGDN	11967536, 11984555, 12094328, 14701743, 15095295, 15122511, 15466005, 15472904, 15649950, 15700044, 15803363, 15803365, 16337852, 16437383, 16492927 View all (25 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	CTD_human_DG	11967536, 12690581, 15122511, 18297428		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	BEFREE	12052256, 12094328, 14678969, 15472904, 21542898, 22799331, 24415413, 26553136		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	CLINVAR_DG	15145354, 15649950, 16551709, 16914568, 17721994, 18085035, 18571837, 22114986, 22419737, 27153395, 28514723		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms, Human	Mammary Neoplasms	CTD_human_DG	11967536, 12690581, 15122511, 18297428		★★★★★ ★☆☆☆☆ Found in Text Mining only
Manic	Manic Disorder	BEFREE	9858067		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mantle cell lymphoma	Mantle Cell Lymphoma	BEFREE	15020270		★★★★★ ★☆☆☆☆ Found in Text Mining only
Medulloblastoma	Medulloblastoma	Pubtator	28383788	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	10809772, 23940574, 24309508, 37628581	Associate	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
melanoma	Melanoma	BEFREE	15057041, 17143490, 18024013, 21956126, 23940574		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
melanoma	Melanoma	CLINVAR_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
melanoma	Melanoma	HPO_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Meningioma	Meningioma	BEFREE	22355270		★★★★★ ★☆☆☆☆ Found in Text Mining only
Meningioma	Meningioma	Pubtator	22355270	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Meningioma	Meningioma	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Mesothelioma	Mesothelioma	Pubtator	22905093, 37556141	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Mesothelioma Malignant	Mesothelioma	Pubtator	34008015, 35032816	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Migraine Disorders	Migraine	Pubtator	34113003	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Miller Dieker syndrome	Miller Dieker Syndrome	BEFREE	29902706		★★★★★ ★☆☆☆☆ Found in Text Mining only
MOHR-TRANEBJAERG SYNDROME	MOHR-TRANEBJAERG SYNDROME	BEFREE	29761796		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mucinous Adenocarcinoma	Mucinous Adenocarcinoma	BEFREE	25155618		★★★★★ ★☆☆☆☆ Found in Text Mining only
Multiple congenital anomalies	Multiple Congenital Anomalies	CLINVAR_DG	11719428, 15122511, 15492928, 16078115, 16551709, 18004398, 18759107, 19338683, 21807500, 21876083, 22058428, 23296741, 25467110, 26506619		★★★★★ ★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	Pubtator	25609078, 32060401	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Myasthenia Gravis	Myasthenia Gravis	BEFREE	11857062		★★★★★ ★☆☆☆☆ Found in Text Mining only
MYELODYSPLASTIC SYNDROME	Myelodysplastic Syndrome	BEFREE	11248330, 12363465, 17577921, 19398952, 28549617, 29902706		★★★★★ ★☆☆☆☆ Found in Text Mining only
Myelodysplastic Syndromes	Myelodysplastic syndrome	Pubtator	17577921, 32217071	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Myeloid Leukemia, Chronic	Myeloid Leukemia	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Myoclonic dystonia	Myoclonic dystonia	Pubtator	35773312	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Nasopharyngeal Carcinoma	Nasopharyngeal carcinoma	Pubtator	29568064	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Nemaline myopathy 5	Nemaline myopathy	Pubtator	34499690	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	10987268, 11053450, 11248330, 11571648, 11699418, 11719428, 11733767, 11746983, 11751432, 11875739, 12052256, 12094328, 12393693, 12654917, 14674991 View all (66 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplastic Syndromes, Hereditary	Hereditary Cancer Syndrome	CLINVAR_DG	10617473, 11053450, 11298456, 11390408, 11571648, 11719428, 11901158, 11967536, 12049740, 12533788, 12610780, 12805407, 12909615, 15087378, 15122511 View all (91 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nephroblastoma	Nephroblastoma	CLINVAR_DG	10617473, 11719428, 11967536, 15492928, 18759107, 19030985, 20722467, 21244692, 21876083, 21956126, 22006311, 22058216, 22058428, 22520019, 22691310 View all (7 more)		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Nervous System Neoplasms	Nervous System Neoplasms	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	15942682, 27009842, 29805983		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neuroblastoma	Neuroblastoma	CTD_human_DG	23334666		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neuroblastoma	Neuroblastoma	Pubtator	27009842, 29805983, 33384420, 35655142	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neuroectodermal Tumor, Primitive	Neuroectodermal Tumors	BEFREE	30689542		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neuroendocrine Tumors	Neuroendocrine Tumors	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	15125777, 19362748, 21077998		★★★★★ ★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	39256343	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Oestrogen receptor positive breast cancer	Oestrogen Receptor Positive Breast Cancer	BEFREE	19021634, 24557336		★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	BEFREE	11746983, 24474250, 25479727, 31269698		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteosarcoma	Osteosarcoma	LHGDN	11746983		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteosarcoma	Osteosarcoma	ORPHANET_DG	11746983		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteosarcoma	Osteosarcoma	CTD_human_DG	11746983		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteosarcoma	Osteosarcoma	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteosarcoma	Osteosarcoma	Pubtator	24474250, 31269698	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteosarcoma	Osteosarcoma	CLINVAR_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteosarcoma	Osteosarcoma	HPO_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteosarcoma	Osteosarcoma	UNIPROT_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteosarcoma	Osteosarcoma	GENOMICS_ENGLAND_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ovarian neoplasm	Ovarian neoplasm	BEFREE	11746983, 14507240, 15385111, 16551709, 16828850, 17145815, 21120647, 23806170, 24657486, 28874143, 28984489, 30769778, 31050813		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ovarian neoplasm	Ovarian neoplasm	LHGDN	14507240		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ovarian neoplasm	Ovarian neoplasm	HPO_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ovarian neoplasm	Ovarian neoplasm	CLINVAR_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	12052256, 15269203, 15535844, 17118344, 20386703, 20444961, 23806170, 24240112, 24879340, 26718727, 28497333, 29734760, 30769778, 30964716, 31186408 View all (12 more)	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	20643596, 24276239, 27038244		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma, familial	Pancreatic carcinoma	BEFREE	16858628		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancreatic Ductal Adenocarcinoma	Pancreatic adenocarcinoma	BEFREE	30672594		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasm	Pancreatic Neoplasm	LHGDN	16858628		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasm	Pancreatic Neoplasm	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	18381943, 19519883, 23855452, 25002126, 26483394, 27488870, 28199314, 29961768, 30419860, 32354656, 34620795, 36717774, 39256447, 39793706	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Panic Disorder	Panic Disorder	BEFREE	31818776		★★★★★ ★☆☆☆☆ Found in Text Mining only
Papillary thyroid carcinoma	Papillary thyroid carcinoma	BEFREE	24599715, 25417114, 25583358, 26320103, 29486482		★★★★★ ★☆☆☆☆ Found in Text Mining only
Parathyroid Adenoma	Parathyroid Adenoma	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Peritonitis	Peritonitis	Pubtator	32504035	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Peutz-Jeghers Syndrome	Peutz-Jeghers Syndrome	BEFREE	20722467		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pheochromocytoma	Pheochromocytoma	Pubtator	36440216	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Polycythemia Vera	Polycythemia vera	Pubtator	31993860, 32609350, 33146377, 34793666, 38609177, 40288678	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Polyp of large intestine	Polyp Of Large Intestine	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Primary peritoneal carcinoma	Peritoneal Carcinoma	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostate cancer familial	Prostate cancer	Pubtator	12533788, 14612911, 29659569	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostate cancer, familial	Prostate cancer	BEFREE	12533788, 14612911		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostate cancer, familial	Prostate cancer	CTD_human_DG	12533788		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostate cancer, familial	Prostate cancer	ORPHANET_DG	12533788		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATE CANCER, HEREDITARY, 1	Prostate Cancer, Hereditary	CTD_human_DG	12533788		★★★★★ ★☆☆☆☆ Found in Text Mining only
PROSTATE CANCER, SOMATIC	Prostate Cancer	CLINVAR_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostate carcinoma	Prostate cancer	BEFREE	12533788, 14612911, 15087378, 15280931, 15492928, 16257342, 16835864, 16941491, 17079449, 17085682, 17372254, 17661168, 17918154, 18507002, 18571837 View all (10 more)		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostatic Neoplasms	Prostatic Neoplasms	LHGDN	12533788, 14612911, 15087378, 16835864, 16941491, 17085682, 18571837		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostatic Neoplasms	Prostatic Neoplasms	CTD_human_DG	12533788		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	12533788, 14612911, 15280931, 15492928, 15961392, 17079449, 18507002, 18571837, 19401704, 23722471, 24079846, 26447757, 26573794, 27595995, 28657667 View all (22 more)	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostatic Neoplasms	Prostatic Neoplasms	BEFREE	16835864, 16941491		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Renal Cell Carcinoma	Renal Carcinoma	BEFREE	29978187		★★★★★ ★☆☆☆☆ Found in Text Mining only
Respiratory Tract Infections	Respiratory system infectious disease	Pubtator	36818471	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Reticulosarcoma	Reticulosarcoma	CTD_human_DG	26506619		★★★★★ ★☆☆☆☆ Found in Text Mining only
Retinoblastoma	Retinoblastoma	BEFREE	21983636		★★★★★ ★☆☆☆☆ Found in Text Mining only
Retinoblastoma	Retinoblastoma	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Rhabdomyosarcoma	Rhabdomyosarcoma	BEFREE	16534790		★★★★★ ★☆☆☆☆ Found in Text Mining only
Rhabdomyosarcoma	Rhabdomyosarcoma	Pubtator	34095712, 34128847	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Rhabdomyosarcoma Alveolar	Rhabdomyosarcoma	Pubtator	36232302	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	15818671		★★★★★ ★☆☆☆☆ Found in Text Mining only
Rothmund-Thomson syndrome	Rothmund-Thomson Syndrome	BEFREE	30594395		★★★★★ ★☆☆☆☆ Found in Text Mining only
Sarcoma	Sarcoma	CLINVAR_DG	15145354		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Sarcoma	Sarcoma	BEFREE	21562711		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Sarcoma	Sarcoma	HPO_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Skin Neoplasms	Skin Neoplasms	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Sleep Deprivation	Sleep deprivation	Pubtator	26336034	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Small cell carcinoma of lung	Lung carcinoma	BEFREE	10987268		★★★★★ ★☆☆☆☆ Found in Text Mining only
Splenic Hypoplasia	Splenic Hypoplasia	BEFREE	28045903		★★★★★ ★☆☆☆☆ Found in Text Mining only
Sporadic Breast Carcinoma	Breast Carcinoma	BEFREE	17705858, 18058223, 19399639, 25425972, 29479983		★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	BEFREE	11875739, 14970869, 19362748		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Squamous cell carcinoma	Carcinoma	LHGDN	11875739		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Squamous cell carcinoma	Carcinoma	GWASCAT_DG	22960999, 24880342		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Squamous cell carcinoma of esophagus	Esophagus Neoplasm	BEFREE	23504502, 26039424, 30753320		★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	18086786, 32753843, 35170694	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of the head and neck	Carcinoma Of The Head And Neck	BEFREE	11751432, 28881600		★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous Cell Neoplasms	Neoplasm	CTD_human_DG	24880342		★★★★★ ★☆☆☆☆ Found in Text Mining only
Steroid Sulfatase Deficiency Disease	Steroid Sulfatase Deficiency Disease	BEFREE	14674991		★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	11011113, 23296741, 23504502, 25176258, 29067458, 29328366		★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	12052256, 26857264, 39793706	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Stomach Neoplasms	Stomach Neoplasms	CTD_human_DG	21364753		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Telomeric 22q13 Monosomy Syndrome	22q13 monosomy syndrome	Pubtator	26336104	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Testicular Germ Cell Tumor	Testicular germ cell tumor	Pubtator	30676620	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Thrombocythemia Essential	Essential thrombocythemia	Pubtator	22058216	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Thrombocythemia, Essential	Thrombocythemia	BEFREE	22058216		★★★★★ ★☆☆☆☆ Found in Text Mining only
Thymoma	Thymoma	BEFREE	11857062		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Thymus Neoplasms	Thymus Neoplasms	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Thyroid cancer follicular	Follicular thyroid cancer	Pubtator	21983636	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Thyroid cancer medullary	Medullary thyroid cancer	Pubtator	33692755, 38279823	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Thyroid Cancer Papillary	Papillary thyroid cancer	Pubtator	24599715, 25417114, 26320103, 29486482	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Thyroid carcinoma	Thyroid Carcinoma	BEFREE	25583358, 30269267, 31240458		★★★★★ ★☆☆☆☆ Found in Text Mining only
Thyroid carcinoma	Thyroid Carcinoma	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Thyroid Gland Follicular Adenoma	Thyroid Gland Follicular Adenoma	BEFREE	21983636		★★★★★ ★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasm	Thyroid Neoplasm	BEFREE	25583358, 30269267, 31240458		★★★★★ ★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasms	Thyroid cancer	Pubtator	15492928, 35174967, 38165228, 38279823	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Thyroiditis	Thyroiditis	Pubtator	35174967, 36136322	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Tongue Neoplasms	Tongue cancer	Pubtator	19331169	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple Negative Breast Neoplasms	BEFREE	21707865, 26083025, 26544894, 26577449, 29522266, 29761796		★★★★★ ★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple negative breast cancer	Pubtator	26577449, 29761796, 35430566, 38520597, 40300663	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Tumors of Adrenal Cortex	Tumors Of Adrenal Cortex	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Turcot syndrome	Turcot syndrome	Pubtator	36360190	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Turcot syndrome (disorder)	Turcot syndrome	BEFREE	31151928		★★★★★ ★☆☆☆☆ Found in Text Mining only
Type 1 Papillary Renal Cell Carcinoma	Papillary Renal Carcinoma	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Undifferentiated carcinoma	Carcinoma	CTD_human_DG	16316942		★★★★★ ★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	34499690, 34964002, 35768832, 36451132, 36818471, 38326120	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Urogenital Neoplasms	Urogenital neoplasm	Pubtator	36451132	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Urothelial Carcinoma	Urothelial Carcinoma	BEFREE	31506803		★★★★★ ★☆☆☆☆ Found in Text Mining only
Uterine Cervical Dysplasia	Uterine disease	Pubtator	19668150	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	32546626	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Wilms Tumor	Wilms tumor	Pubtator	28825729, 35230882, 40340749	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

CHEK2 (checkpoint kinase 2)