MRE11 (MRE11 double strand break repair nuclease)

Gene

• Entrez ID: 4361
• Gene name: MRE11 double strand break repair nuclease
• Gene symbol: MRE11
• Synonyms (NCBI Gene): ATLD, HNGS1, MRE11A, MRE11B
• Chromosome: 11
• Chromosome location: 11q21
• Summary: This gene encodes a nuclear protein involved in homologous recombination, telomere length maintenance, and DNA double-strand break repair. By itself, the protein has 3` to 5` exonuclease activity and endonuclease activity. The protein forms a complex with

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs3218740	G>A	Likely-benign, conflicting-interpretations-of-pathogenicity, benign-likely-benign	Synonymous variant, coding sequence variant, non coding transcript variant, 5 prime UTR variant
rs61749249	G>A,T	Benign, uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant, non coding transcript variant
rs116679717	C>G,T	Benign, conflicting-interpretations-of-pathogenicity, likely-benign, uncertain-significance, benign-likely-benign	Missense variant, 5 prime UTR variant, non coding transcript variant, coding sequence variant
rs137852759	G>A,C,T	Pathogenic	Synonymous variant, coding sequence variant, stop gained, missense variant, non coding transcript variant
rs137852760	T>C	Uncertain-significance, pathogenic-likely-pathogenic	Coding sequence variant, non coding transcript variant, 5 prime UTR variant, missense variant
rs137852761	G>A	Likely-pathogenic, pathogenic	Coding sequence variant, stop gained, non coding transcript variant
rs137852762	G>A,T	Uncertain-significance, pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs137852763	C>G	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs137868143	A>G	Likely-benign, conflicting-interpretations-of-pathogenicity, benign-likely-benign	Coding sequence variant, synonymous variant, non coding transcript variant
rs139461096	C>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, non coding transcript variant, missense variant
rs145058858	A>G,T	Likely-pathogenic	Splice donor variant
rs145415033	C>G	Likely-benign, conflicting-interpretations-of-pathogenicity, benign	Coding sequence variant, non coding transcript variant, intron variant, missense variant
rs201572020	T>C	Likely-pathogenic	Splice acceptor variant, intron variant
rs371455048	T>A	Pathogenic	Stop gained, coding sequence variant, non coding transcript variant
rs372000848	G>A	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant, non coding transcript variant
rs372068015	A>G	Uncertain-significance, likely-pathogenic	Missense variant, upstream transcript variant, genic upstream transcript variant, non coding transcript variant, coding sequence variant
rs375261439	G>A,C	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant, non coding transcript variant
rs377584386	G>C,T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Intron variant
rs587780138	CATCACTATATT>-	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Intron variant, genic upstream transcript variant, upstream transcript variant, coding sequence variant, non coding transcript variant, splice acceptor variant
rs587781381	A>T	Pathogenic, likely-pathogenic	Splice donor variant
rs587781384	C>A,T	Pathogenic, likely-pathogenic, conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant, non coding transcript variant, stop gained
rs587781442	->GAAGTGGTAGGAAAAATGTC	Pathogenic, pathogenic-likely-pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs587781822	T>C	Likely-pathogenic	Splice acceptor variant
rs587781828	->A	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs587782030	G>A,T	Pathogenic, uncertain-significance	Coding sequence variant, missense variant, non coding transcript variant, stop gained
rs587782308	G>A	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant, non coding transcript variant
rs730881752	AA>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs745677716	A>G	Likely-pathogenic	Splice donor variant, intron variant
rs747832587	T>-,TT	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs757691558	TT>-,T,TTT	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs759130031	C>T	Pathogenic, likely-pathogenic	Splice donor variant
rs767787348	T>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs768257868	G>A,T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Intron variant
rs772019392	G>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, non coding transcript variant, synonymous variant
rs774277300	G>A,C,T	Uncertain-significance, pathogenic	Non coding transcript variant, synonymous variant, stop gained, missense variant, coding sequence variant
rs774440500	->T	Likely-pathogenic, pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs776912688	G>A,C	Pathogenic	Missense variant, non coding transcript variant, coding sequence variant, stop gained
rs779269083	C>A,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Stop gained, missense variant, non coding transcript variant, coding sequence variant, 5 prime UTR variant
rs780001540	G>A	Pathogenic	Stop gained, non coding transcript variant, coding sequence variant
rs786202032	AAA>T	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs786202253	TTTGAAGC>-	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs786202764	->G	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs786202801	A>T	Uncertain-significance, likely-pathogenic	Splice donor variant
rs786203314	CT>TTAA	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs786203682	G>-	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs786203931	->G	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs863224508	A>-	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs863224896	C>A,T	Likely-benign, likely-pathogenic	Synonymous variant, missense variant, non coding transcript variant, coding sequence variant, 5 prime UTR variant
rs876658665	C>T	Likely-pathogenic	Splice donor variant
rs876658917	C>T	Likely-pathogenic	Splice acceptor variant
rs876659145	T>C	Likely-pathogenic	Splice acceptor variant
rs876660186	CTCATAAG>-	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs876660269	->T	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant, intron variant
rs878854776	T>C	Likely-pathogenic	Splice acceptor variant
rs929767929	C>T	Likely-pathogenic	Splice donor variant
rs951805101	A>C	Pathogenic	Non coding transcript variant, stop gained, coding sequence variant, 5 prime UTR variant
rs984874083	T>A	Pathogenic, likely-pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs1060501788	G>A,C	Pathogenic, uncertain-significance	Non coding transcript variant, stop gained, coding sequence variant, missense variant
rs1157413766	G>A	Pathogenic	Non coding transcript variant, stop gained, coding sequence variant
rs1157436927	G>A,C	Pathogenic	Non coding transcript variant, stop gained, coding sequence variant, missense variant
rs1169667763	AAAGGTTCAAAACCTC>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1180352898	G>A,T	Pathogenic	Stop gained, missense variant, non coding transcript variant, coding sequence variant
rs1215450873	G>A	Pathogenic	Stop gained, non coding transcript variant, coding sequence variant
rs1245161888	GT>-	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs1264516058	G>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1295485913	C>A	Likely-pathogenic	Splice acceptor variant
rs1376550081	C>A	Pathogenic	Coding sequence variant, stop gained, non coding transcript variant
rs1411087205	T>A,C,G	Pathogenic, likely-benign	Stop gained, synonymous variant, missense variant, coding sequence variant, non coding transcript variant
rs1451215042	C>T	Likely-pathogenic	Splice acceptor variant
rs1475506136	A>C	Likely-pathogenic	Splice donor variant
rs1555002387	TTAC>-	Likely-pathogenic	Splice donor variant, intron variant
rs1555002390	A>G	Likely-pathogenic	Splice donor variant
rs1555002419	G>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1555002450	T>G	Likely-pathogenic	Splice acceptor variant
rs1555005270	TT>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1555009931	->T	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1555009945	T>G	Likely-pathogenic	Splice acceptor variant
rs1555015413	TA>CCC	Likely-pathogenic	Splice donor variant, intron variant
rs1555017184	CTGA>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant, 5 prime UTR variant
rs1555017238	T>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant, 5 prime UTR variant
rs1555017290	C>T	Likely-pathogenic	Splice acceptor variant
rs1565228898	GA>-	Likely-pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1591634006	T>C	Likely-pathogenic	Splice acceptor variant
rs1591652976	GTAG>-	Pathogenic	Intron variant, frameshift variant, coding sequence variant, non coding transcript variant
rs1591672201	G>-	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs1591681273	->C	Likely-pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs1591692886	T>-	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs1591693112	T>G	Likely-pathogenic	Splice acceptor variant
rs1591703044	G>A	Pathogenic	Coding sequence variant, stop gained, non coding transcript variant
rs1591718826	A>G	Likely-pathogenic	Intron variant, splice donor variant
rs1591719208	->AATGT	Pathogenic	5 prime UTR variant, frameshift variant, coding sequence variant, non coding transcript variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT714212	hsa-miR-99a-3p	HITS-CLIP	19536157
MIRT714211	hsa-miR-99b-3p	HITS-CLIP	19536157
MIRT714210	hsa-miR-6796-3p	HITS-CLIP	19536157
MIRT714209	hsa-miR-130b-5p	HITS-CLIP	19536157
MIRT714208	hsa-miR-3124-3p	HITS-CLIP	19536157
MIRT714207	hsa-miR-642a-5p	HITS-CLIP	19536157
MIRT714206	hsa-miR-4755-5p	HITS-CLIP	19536157
MIRT714205	hsa-miR-5006-3p	HITS-CLIP	19536157
MIRT714204	hsa-miR-4446-5p	HITS-CLIP	19536157
MIRT489543	hsa-miR-6873-5p	HITS-CLIP	23706177
MIRT489544	hsa-miR-6760-5p	HITS-CLIP	23706177
MIRT489541	hsa-miR-4419a	HITS-CLIP	23706177
MIRT489540	hsa-miR-4510	HITS-CLIP	23706177
MIRT489539	hsa-miR-6127	HITS-CLIP	23706177
MIRT489538	hsa-miR-6129	HITS-CLIP	23706177
MIRT489537	hsa-miR-6130	HITS-CLIP	23706177
MIRT489536	hsa-miR-6133	HITS-CLIP	23706177
MIRT489535	hsa-miR-185-5p	HITS-CLIP	23706177
MIRT489534	hsa-miR-4306	HITS-CLIP	23706177
MIRT489533	hsa-miR-4644	HITS-CLIP	23706177
MIRT489531	hsa-miR-6731-5p	HITS-CLIP	23706177
MIRT489530	hsa-miR-8085	HITS-CLIP	23706177
MIRT489526	hsa-miR-3175	HITS-CLIP	23706177
MIRT489525	hsa-miR-4723-5p	HITS-CLIP	23706177
MIRT489524	hsa-miR-5698	HITS-CLIP	23706177
MIRT489522	hsa-miR-6870-5p	HITS-CLIP	23706177
MIRT489523	hsa-miR-7111-5p	HITS-CLIP	23706177
MIRT489521	hsa-miR-6795-5p	HITS-CLIP	23706177
MIRT489520	hsa-miR-6887-5p	HITS-CLIP	23706177
MIRT672186	hsa-miR-660-3p	HITS-CLIP	23824327
MIRT672185	hsa-miR-4324	HITS-CLIP	23824327
MIRT672184	hsa-miR-544b	HITS-CLIP	23824327
MIRT672183	hsa-miR-4722-3p	HITS-CLIP	23824327
MIRT672182	hsa-miR-6727-3p	HITS-CLIP	23824327
MIRT672181	hsa-miR-6747-3p	HITS-CLIP	23824327
MIRT680138	hsa-miR-3653-5p	HITS-CLIP	23824327
MIRT672180	hsa-miR-1976	HITS-CLIP	23824327
MIRT672178	hsa-miR-6791-3p	HITS-CLIP	23824327
MIRT672179	hsa-miR-6829-3p	HITS-CLIP	23824327
MIRT672175	hsa-miR-1200	HITS-CLIP	23824327
MIRT672173	hsa-miR-4279	HITS-CLIP	23824327
MIRT672172	hsa-miR-498	HITS-CLIP	23824327
MIRT672186	hsa-miR-660-3p	HITS-CLIP	23824327
MIRT672185	hsa-miR-4324	HITS-CLIP	23824327
MIRT672184	hsa-miR-544b	HITS-CLIP	23824327
MIRT672183	hsa-miR-4722-3p	HITS-CLIP	23824327
MIRT672182	hsa-miR-6727-3p	HITS-CLIP	23824327
MIRT672181	hsa-miR-6747-3p	HITS-CLIP	23824327
MIRT672180	hsa-miR-1976	HITS-CLIP	23824327
MIRT672178	hsa-miR-6791-3p	HITS-CLIP	23824327
MIRT672179	hsa-miR-6829-3p	HITS-CLIP	23824327
MIRT672177	hsa-miR-23a-5p	HITS-CLIP	23824327
MIRT672176	hsa-miR-23b-5p	HITS-CLIP	23824327
MIRT672175	hsa-miR-1200	HITS-CLIP	23824327
MIRT672173	hsa-miR-4279	HITS-CLIP	23824327
MIRT672174	hsa-miR-6869-5p	HITS-CLIP	23824327
MIRT672172	hsa-miR-498	HITS-CLIP	23824327
MIRT489543	hsa-miR-6873-5p	PAR-CLIP	20371350
MIRT489544	hsa-miR-6760-5p	PAR-CLIP	20371350
MIRT489541	hsa-miR-4419a	PAR-CLIP	20371350
MIRT489540	hsa-miR-4510	PAR-CLIP	20371350
MIRT489539	hsa-miR-6127	PAR-CLIP	20371350
MIRT489538	hsa-miR-6129	PAR-CLIP	20371350
MIRT489537	hsa-miR-6130	PAR-CLIP	20371350
MIRT489536	hsa-miR-6133	PAR-CLIP	20371350
MIRT489535	hsa-miR-185-5p	PAR-CLIP	20371350
MIRT489534	hsa-miR-4306	PAR-CLIP	20371350
MIRT489533	hsa-miR-4644	PAR-CLIP	20371350
MIRT489531	hsa-miR-6731-5p	PAR-CLIP	20371350
MIRT489530	hsa-miR-8085	PAR-CLIP	20371350
MIRT489526	hsa-miR-3175	PAR-CLIP	20371350
MIRT489525	hsa-miR-4723-5p	PAR-CLIP	20371350
MIRT489524	hsa-miR-5698	PAR-CLIP	20371350
MIRT489522	hsa-miR-6870-5p	PAR-CLIP	20371350
MIRT489523	hsa-miR-7111-5p	PAR-CLIP	20371350
MIRT489521	hsa-miR-6795-5p	PAR-CLIP	20371350
MIRT489520	hsa-miR-6887-5p	PAR-CLIP	20371350
MIRT489543	hsa-miR-6873-5p	PAR-CLIP	20371350
MIRT489544	hsa-miR-6760-5p	PAR-CLIP	20371350
MIRT489542	hsa-miR-1296-3p	PAR-CLIP	20371350
MIRT489541	hsa-miR-4419a	PAR-CLIP	20371350
MIRT489540	hsa-miR-4510	PAR-CLIP	20371350
MIRT489539	hsa-miR-6127	PAR-CLIP	20371350
MIRT489538	hsa-miR-6129	PAR-CLIP	20371350
MIRT489537	hsa-miR-6130	PAR-CLIP	20371350
MIRT489536	hsa-miR-6133	PAR-CLIP	20371350
MIRT499680	hsa-miR-4481	PAR-CLIP	20371350
MIRT499679	hsa-miR-4745-5p	PAR-CLIP	20371350
MIRT499678	hsa-miR-6077	PAR-CLIP	20371350
MIRT489535	hsa-miR-185-5p	PAR-CLIP	20371350
MIRT489534	hsa-miR-4306	PAR-CLIP	20371350
MIRT489533	hsa-miR-4644	PAR-CLIP	20371350
MIRT489532	hsa-miR-1292-5p	PAR-CLIP	20371350
MIRT489531	hsa-miR-6731-5p	PAR-CLIP	20371350
MIRT489530	hsa-miR-8085	PAR-CLIP	20371350
MIRT489529	hsa-miR-4271	PAR-CLIP	20371350
MIRT489528	hsa-miR-4725-3p	PAR-CLIP	20371350
MIRT489527	hsa-miR-6780b-5p	PAR-CLIP	20371350
MIRT489526	hsa-miR-3175	PAR-CLIP	20371350
MIRT489525	hsa-miR-4723-5p	PAR-CLIP	20371350
MIRT489524	hsa-miR-5698	PAR-CLIP	20371350
MIRT489522	hsa-miR-6870-5p	PAR-CLIP	20371350
MIRT489523	hsa-miR-7111-5p	PAR-CLIP	20371350
MIRT489521	hsa-miR-6795-5p	PAR-CLIP	20371350
MIRT489520	hsa-miR-6887-5p	PAR-CLIP	20371350
MIRT489519	hsa-miR-491-5p	PAR-CLIP	20371350
MIRT489518	hsa-miR-2110	PAR-CLIP	20371350
MIRT551343	hsa-miR-6808-5p	PAR-CLIP	21572407
MIRT551342	hsa-miR-6893-5p	PAR-CLIP	21572407
MIRT551341	hsa-miR-940	PAR-CLIP	21572407
MIRT551340	hsa-miR-3929	PAR-CLIP	21572407
MIRT551339	hsa-miR-4419b	PAR-CLIP	21572407
MIRT551338	hsa-miR-4478	PAR-CLIP	21572407
MIRT551337	hsa-miR-4768-3p	PAR-CLIP	21572407
MIRT551336	hsa-miR-4649-3p	PAR-CLIP	21572407
MIRT551335	hsa-miR-1827	PAR-CLIP	21572407
MIRT551334	hsa-miR-485-5p	PAR-CLIP	21572407
MIRT551333	hsa-miR-6884-5p	PAR-CLIP	21572407
MIRT551332	hsa-miR-4722-5p	PAR-CLIP	21572407
MIRT551330	hsa-miR-7160-5p	PAR-CLIP	21572407
MIRT551331	hsa-miR-4633-3p	PAR-CLIP	21572407
MIRT551329	hsa-miR-6500-5p	PAR-CLIP	21572407
MIRT551328	hsa-miR-6874-5p	PAR-CLIP	21572407
MIRT551327	hsa-miR-665	PAR-CLIP	21572407
MIRT489543	hsa-miR-6873-5p	PAR-CLIP	21572407
MIRT489544	hsa-miR-6760-5p	PAR-CLIP	21572407
MIRT489541	hsa-miR-4419a	PAR-CLIP	21572407
MIRT489540	hsa-miR-4510	PAR-CLIP	21572407
MIRT489539	hsa-miR-6127	PAR-CLIP	21572407
MIRT489538	hsa-miR-6129	PAR-CLIP	21572407
MIRT489537	hsa-miR-6130	PAR-CLIP	21572407
MIRT489536	hsa-miR-6133	PAR-CLIP	21572407
MIRT489535	hsa-miR-185-5p	PAR-CLIP	21572407
MIRT489534	hsa-miR-4306	PAR-CLIP	21572407
MIRT489533	hsa-miR-4644	PAR-CLIP	21572407
MIRT489531	hsa-miR-6731-5p	PAR-CLIP	21572407
MIRT489530	hsa-miR-8085	PAR-CLIP	21572407
MIRT489526	hsa-miR-3175	PAR-CLIP	21572407
MIRT489525	hsa-miR-4723-5p	PAR-CLIP	21572407
MIRT489524	hsa-miR-5698	PAR-CLIP	21572407
MIRT489522	hsa-miR-6870-5p	PAR-CLIP	21572407
MIRT489523	hsa-miR-7111-5p	PAR-CLIP	21572407
MIRT489521	hsa-miR-6795-5p	PAR-CLIP	21572407
MIRT489520	hsa-miR-6887-5p	PAR-CLIP	21572407
MIRT489543	hsa-miR-6873-5p	PAR-CLIP	22012620
MIRT489544	hsa-miR-6760-5p	PAR-CLIP	22012620
MIRT489542	hsa-miR-1296-3p	PAR-CLIP	22012620
MIRT489541	hsa-miR-4419a	PAR-CLIP	22012620
MIRT489540	hsa-miR-4510	PAR-CLIP	22012620
MIRT489539	hsa-miR-6127	PAR-CLIP	22012620
MIRT489538	hsa-miR-6129	PAR-CLIP	22012620
MIRT489537	hsa-miR-6130	PAR-CLIP	22012620
MIRT489536	hsa-miR-6133	PAR-CLIP	22012620
MIRT499680	hsa-miR-4481	PAR-CLIP	22012620
MIRT499679	hsa-miR-4745-5p	PAR-CLIP	22012620
MIRT489535	hsa-miR-185-5p	PAR-CLIP	22012620
MIRT489534	hsa-miR-4306	PAR-CLIP	22012620
MIRT489533	hsa-miR-4644	PAR-CLIP	22012620
MIRT489532	hsa-miR-1292-5p	PAR-CLIP	22012620
MIRT489531	hsa-miR-6731-5p	PAR-CLIP	22012620
MIRT489530	hsa-miR-8085	PAR-CLIP	22012620
MIRT489529	hsa-miR-4271	PAR-CLIP	22012620
MIRT489528	hsa-miR-4725-3p	PAR-CLIP	22012620
MIRT489527	hsa-miR-6780b-5p	PAR-CLIP	22012620
MIRT489526	hsa-miR-3175	PAR-CLIP	22012620
MIRT489525	hsa-miR-4723-5p	PAR-CLIP	22012620
MIRT489524	hsa-miR-5698	PAR-CLIP	22012620
MIRT489522	hsa-miR-6870-5p	PAR-CLIP	22012620
MIRT489523	hsa-miR-7111-5p	PAR-CLIP	22012620
MIRT489521	hsa-miR-6795-5p	PAR-CLIP	22012620
MIRT489520	hsa-miR-6887-5p	PAR-CLIP	22012620
MIRT489519	hsa-miR-491-5p	PAR-CLIP	22012620
MIRT489518	hsa-miR-2110	PAR-CLIP	22012620
MIRT489543	hsa-miR-6873-5p	PAR-CLIP	23446348
MIRT489544	hsa-miR-6760-5p	PAR-CLIP	23446348
MIRT489541	hsa-miR-4419a	PAR-CLIP	23446348
MIRT489540	hsa-miR-4510	PAR-CLIP	23446348
MIRT489539	hsa-miR-6127	PAR-CLIP	23446348
MIRT489538	hsa-miR-6129	PAR-CLIP	23446348
MIRT489537	hsa-miR-6130	PAR-CLIP	23446348
MIRT489536	hsa-miR-6133	PAR-CLIP	23446348
MIRT489535	hsa-miR-185-5p	PAR-CLIP	23446348
MIRT489534	hsa-miR-4306	PAR-CLIP	23446348
MIRT489533	hsa-miR-4644	PAR-CLIP	23446348
MIRT489531	hsa-miR-6731-5p	PAR-CLIP	23446348
MIRT489530	hsa-miR-8085	PAR-CLIP	23446348
MIRT489526	hsa-miR-3175	PAR-CLIP	23446348
MIRT489525	hsa-miR-4723-5p	PAR-CLIP	23446348
MIRT489524	hsa-miR-5698	PAR-CLIP	23446348
MIRT489522	hsa-miR-6870-5p	PAR-CLIP	23446348
MIRT489523	hsa-miR-7111-5p	PAR-CLIP	23446348
MIRT489521	hsa-miR-6795-5p	PAR-CLIP	23446348
MIRT489520	hsa-miR-6887-5p	PAR-CLIP	23446348
MIRT499681	hsa-miR-3925-5p	PAR-CLIP	24398324
MIRT489543	hsa-miR-6873-5p	PAR-CLIP	24398324
MIRT489544	hsa-miR-6760-5p	PAR-CLIP	24398324
MIRT489542	hsa-miR-1296-3p	PAR-CLIP	24398324
MIRT489541	hsa-miR-4419a	PAR-CLIP	24398324
MIRT489540	hsa-miR-4510	PAR-CLIP	24398324
MIRT489539	hsa-miR-6127	PAR-CLIP	24398324
MIRT489538	hsa-miR-6129	PAR-CLIP	24398324
MIRT489537	hsa-miR-6130	PAR-CLIP	24398324
MIRT489536	hsa-miR-6133	PAR-CLIP	24398324
MIRT499680	hsa-miR-4481	PAR-CLIP	24398324
MIRT499679	hsa-miR-4745-5p	PAR-CLIP	24398324
MIRT499678	hsa-miR-6077	PAR-CLIP	24398324
MIRT489535	hsa-miR-185-5p	PAR-CLIP	24398324
MIRT489534	hsa-miR-4306	PAR-CLIP	24398324
MIRT489533	hsa-miR-4644	PAR-CLIP	24398324
MIRT489532	hsa-miR-1292-5p	PAR-CLIP	24398324
MIRT489531	hsa-miR-6731-5p	PAR-CLIP	24398324
MIRT489530	hsa-miR-8085	PAR-CLIP	24398324
MIRT489529	hsa-miR-4271	PAR-CLIP	24398324
MIRT489528	hsa-miR-4725-3p	PAR-CLIP	24398324
MIRT489527	hsa-miR-6780b-5p	PAR-CLIP	24398324
MIRT489526	hsa-miR-3175	PAR-CLIP	24398324
MIRT489525	hsa-miR-4723-5p	PAR-CLIP	24398324
MIRT489524	hsa-miR-5698	PAR-CLIP	24398324
MIRT489522	hsa-miR-6870-5p	PAR-CLIP	24398324
MIRT489523	hsa-miR-7111-5p	PAR-CLIP	24398324
MIRT489521	hsa-miR-6795-5p	PAR-CLIP	24398324
MIRT489520	hsa-miR-6887-5p	PAR-CLIP	24398324
MIRT489519	hsa-miR-491-5p	PAR-CLIP	24398324
MIRT489518	hsa-miR-2110	PAR-CLIP	24398324
MIRT489543	hsa-miR-6873-5p	PAR-CLIP	23592263
MIRT489544	hsa-miR-6760-5p	PAR-CLIP	23592263
MIRT489542	hsa-miR-1296-3p	PAR-CLIP	23592263
MIRT489541	hsa-miR-4419a	PAR-CLIP	23592263
MIRT489540	hsa-miR-4510	PAR-CLIP	23592263
MIRT489539	hsa-miR-6127	PAR-CLIP	23592263
MIRT489538	hsa-miR-6129	PAR-CLIP	23592263
MIRT489537	hsa-miR-6130	PAR-CLIP	23592263
MIRT489536	hsa-miR-6133	PAR-CLIP	23592263
MIRT489535	hsa-miR-185-5p	PAR-CLIP	23592263
MIRT489534	hsa-miR-4306	PAR-CLIP	23592263
MIRT489533	hsa-miR-4644	PAR-CLIP	23592263
MIRT489532	hsa-miR-1292-5p	PAR-CLIP	23592263
MIRT489531	hsa-miR-6731-5p	PAR-CLIP	23592263
MIRT489530	hsa-miR-8085	PAR-CLIP	23592263
MIRT489529	hsa-miR-4271	PAR-CLIP	23592263
MIRT489528	hsa-miR-4725-3p	PAR-CLIP	23592263
MIRT489527	hsa-miR-6780b-5p	PAR-CLIP	23592263
MIRT489526	hsa-miR-3175	PAR-CLIP	23592263
MIRT489525	hsa-miR-4723-5p	PAR-CLIP	23592263
MIRT489524	hsa-miR-5698	PAR-CLIP	23592263
MIRT489522	hsa-miR-6870-5p	PAR-CLIP	23592263
MIRT489523	hsa-miR-7111-5p	PAR-CLIP	23592263
MIRT489521	hsa-miR-6795-5p	PAR-CLIP	23592263
MIRT489520	hsa-miR-6887-5p	PAR-CLIP	23592263
MIRT489519	hsa-miR-491-5p	PAR-CLIP	23592263
MIRT489518	hsa-miR-2110	PAR-CLIP	23592263

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000014	Function	Single-stranded DNA endodeoxyribonuclease activity	IBA
GO:0000014	Function	Single-stranded DNA endodeoxyribonuclease activity	IDA	9705271
GO:0000014	Function	Single-stranded DNA endodeoxyribonuclease activity	TAS	9705271
GO:0000019	Process	Regulation of mitotic recombination	TAS	8530104
GO:0000723	Process	Telomere maintenance	IBA
GO:0000724	Process	Double-strand break repair via homologous recombination	IBA
GO:0000724	Process	Double-strand break repair via homologous recombination	IDA	15741314, 24316220, 27814491, 27889449, 28867292, 29670289, 30612738, 30787182, 31353207, 36563124, 38128537
GO:0000724	Process	Double-strand break repair via homologous recombination	IEA
GO:0000729	Process	DNA double-strand break processing	IMP	23080121
GO:0000729	Process	DNA double-strand break processing	NAS	26512707
GO:0000729	Process	DNA double-strand break processing	TAS
GO:0000781	Component	Chromosome, telomeric region	HDA	19135898
GO:0000781	Component	Chromosome, telomeric region	IDA	15149599, 24270157
GO:0000781	Component	Chromosome, telomeric region	IDA	10811102
GO:0000781	Component	Chromosome, telomeric region	IEA
GO:0000781	Component	Chromosome, telomeric region	IEA
GO:0000781	Component	Chromosome, telomeric region	ISS
GO:0003677	Function	DNA binding	IDA	15790808
GO:0003678	Function	DNA helicase activity	IMP	15790808
GO:0003690	Function	Double-stranded DNA binding	TAS
GO:0004518	Function	Nuclease activity	IEA
GO:0004518	Function	Nuclease activity	TAS	15790808
GO:0004519	Function	Endonuclease activity	IEA
GO:0004520	Function	DNA endonuclease activity	IDA	9705271, 22078559, 23080121, 24316220, 27814491, 27889449, 30787182
GO:0004520	Function	DNA endonuclease activity	IEA
GO:0004520	Function	DNA endonuclease activity	IMP	23080121
GO:0004520	Function	DNA endonuclease activity	TAS	9651580
GO:0004527	Function	Exonuclease activity	IEA
GO:0005515	Function	Protein binding	IPI	9590181, 12419185, 15916964, 16377563, 17428914, 17500065, 17500595, 17612497, 18583988, 18716619, 19234442, 19609304, 21052091, 22078559, 22157895, 24529708, 24534091, 24651726, 24981860, 25558984, 25772236, 26807646, 27568553, 28834754, 29670289, 30612738
GO:0005634	Component	Nucleus	IEA
GO:0005634	Component	Nucleus	NAS	18171670
GO:0005634	Component	Nucleus	TAS
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	TAS	9651580
GO:0005657	Component	Replication fork	IDA	29290612
GO:0005694	Component	Chromosome	IEA
GO:0005737	Component	Cytoplasm	IDA	25468996
GO:0005829	Component	Cytosol	TAS
GO:0006281	Process	DNA repair	IEA
GO:0006281	Process	DNA repair	TAS	9705271, 9931460
GO:0006302	Process	Double-strand break repair	IDA	14657032, 26240375
GO:0006302	Process	Double-strand break repair	IEA
GO:0006302	Process	Double-strand break repair	IEA
GO:0006302	Process	Double-strand break repair	TAS	10612394
GO:0006303	Process	Double-strand break repair via nonhomologous end joining	IBA
GO:0006303	Process	Double-strand break repair via nonhomologous end joining	IDA	9651580
GO:0006303	Process	Double-strand break repair via nonhomologous end joining	TAS	9651580
GO:0006310	Process	DNA recombination	TAS	9705271
GO:0006974	Process	DNA damage response	IDA	17500065
GO:0006974	Process	DNA damage response	IDA	29670289
GO:0006974	Process	DNA damage response	IEA
GO:0007004	Process	Telomere maintenance via telomerase	TAS	9705271, 9931460
GO:0007062	Process	Sister chromatid cohesion	IMP	15917200
GO:0007095	Process	Mitotic G2 DNA damage checkpoint signaling	IBA
GO:0007095	Process	Mitotic G2 DNA damage checkpoint signaling	IEA
GO:0007129	Process	Homologous chromosome pairing at meiosis	IEA
GO:0007131	Process	Reciprocal meiotic recombination	TAS	8530104, 9931460
GO:0008283	Process	Cell population proliferation	IEA
GO:0008296	Function	3'-5'-DNA exonuclease activity	IDA	26240375, 27889449, 29670289
GO:0008296	Function	3'-5'-DNA exonuclease activity	IEA
GO:0008408	Function	3'-5' exonuclease activity	IDA	9651580, 9705271, 15741314, 22078559, 24316220, 26240375, 27889449, 29670289, 36563124
GO:0008408	Function	3'-5' exonuclease activity	TAS	9651580
GO:0016605	Component	PML body	IDA	10811102
GO:0016605	Component	PML body	IEA
GO:0016605	Component	PML body	ISS
GO:0016787	Function	Hydrolase activity	IEA
GO:0030145	Function	Manganese ion binding	IEA
GO:0030870	Component	Mre11 complex	IBA
GO:0030870	Component	Mre11 complex	IDA	10888888, 15790808, 19151086, 27889449, 28867292, 30787182, 38961290
GO:0030870	Component	Mre11 complex	IEA
GO:0030870	Component	Mre11 complex	IPI	31147924
GO:0030870	Component	Mre11 complex	TAS	27918544
GO:0031573	Process	Mitotic intra-S DNA damage checkpoint signaling	IBA
GO:0031573	Process	Mitotic intra-S DNA damage checkpoint signaling	IEA
GO:0031860	Process	Telomeric 3' overhang formation	IMP	16374507
GO:0032206	Process	Positive regulation of telomere maintenance	IMP	16374507
GO:0035825	Process	Homologous recombination	NAS	30657944
GO:0035861	Component	Site of double-strand break	IBA
GO:0035861	Component	Site of double-strand break	IDA	26240375, 28867292, 36050397
GO:0035861	Component	Site of double-strand break	IDA	15916964, 30612738
GO:0042138	Process	Meiotic DNA double-strand break formation	IBA
GO:0042802	Function	Identical protein binding	IPI	22078559
GO:0043066	Process	Negative regulation of apoptotic process	IMP	16374507
GO:0044818	Process	Mitotic G2/M transition checkpoint	NAS	22369660
GO:0045296	Function	Cadherin binding	HDA	25468996
GO:0051276	Process	Chromosome organization	IEA
GO:0051321	Process	Meiotic cell cycle	IEA
GO:0062176	Process	R-loop processing	IDA	31537797
GO:0070533	Component	BRCA1-C complex	IPI	16391231
GO:0097552	Process	Mitochondrial double-strand break repair via homologous recombination	IBA
GO:0098687	Component	Chromosomal region	NAS	26512707
GO:0110025	Process	DNA strand resection involved in replication fork processing	IDA	27814491, 27889449, 29670289, 30464262, 30612738, 30787182, 37696958
GO:0110025	Process	DNA strand resection involved in replication fork processing	IEA
GO:0110025	Process	DNA strand resection involved in replication fork processing	IMP	26240375
GO:0110025	Process	DNA strand resection involved in replication fork processing	NAS	29709199
GO:2000781	Process	Positive regulation of double-strand break repair	IMP	15790808
GO:2001033	Process	Negative regulation of double-strand break repair via nonhomologous end joining	IDA	24316220

Other IDs

• MIM: 600814
• HGNC: 7230
• e!Ensembl: ENSG00000020922

Protein

• UniProt ID: P49959
• Protein name: Double-strand break repair protein MRE11 (EC 3.1.-.-) (Meiotic recombination 11 homolog 1) (MRE11 homolog 1) (Meiotic recombination 11 homolog A) (MRE11 homolog A)
• Protein function: Core component of the MRN complex, which plays a central role in double-strand break (DSB) repair, DNA recombination, maintenance of telomere integrity and meiosis (PubMed:11741547, PubMed:14657032, PubMed:22078559, PubMed:23080121, PubMed:24316
• PDB: 3T1I, 7ZQY, 8BAH, 8K00
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00149	Metallophos	13 → 249	Calcineurin-like phosphoesterase	Domain
  PF04152	Mre11_DNA_bind	294 → 461	Mre11 DNA-binding presumed domain	Domain

• Sequence:

  MSTADALDDENTFKILVATDIHLGFMEKDAVRGNDTFVTLDEILRLAQENEVDFILLGGD
  LFHENKPSRKTLHTCLELLRKYCMGDRPVQFEILSDQSVNFGFSKFPWVNYQDGNLNISI
  PVFSIHGNHDDPTGADALCALDILSCAGFVNHFGRSMSVEKIDISPVLLQKGSTKIALYG
  LGSIPDERLYRMFVNKKVTMLRPKEDENSWFNLFVIHQNRSKHGSTNFIPEQFLDDFIDL
  VIWGHEHECKIAPTKNEQQLFYISQPGSSVVTSLSPGEAVKKHVGLLRIKGRKMNMHKIP
  LHTVRQFFMEDIVLANHPDIFNPDNPKVTQAIQSFCLEKIEEMLENAERERLGNSHQPEK
  PLVRLRVDYSGGFEPFSVLRFSQKFVDRVANPKDIIHFFRHREQKEKTGEEINFGKLITK
  PSEGTTLRVEDLVKQYFQTAEKNVQLSLLTERGMGEAVQEFVDKEEKDAIEELVKYQLEK
  TQRFLKERHIDALEDKIDEEVRRFRETRQKNTNEEDDEVREAMTRARALRSQSEESASAF
  SADDLMSIDLAEQMANDSDDSISAATNKGRGRGRGRRGGRGQNSASRGGSQRGRADTGLE
  TSTRSRNSKTAVSASRNMSIIDAFKSTRQQPSRNVTTKNYSEVIEVDESDVEEDIFPTTS
  KTDQRWSSTSSSKIMSQSQVSKGVDFESSEDDDDDPFMNTSSLRRNRR

• Sequence length: 708

Pathways

KEGG:

Homologous recombination
Non-homologous end-joining
Cellular senescence

Reactome:

Cytosolic sensors of pathogen-associated DNA
DNA Damage/Telomere Stress Induced Senescence
IRF3-mediated induction of type I IFN
HDR through Single Strand Annealing (SSA)
HDR through MMEJ (alt-NHEJ)
HDR through Homologous Recombination (HRR)
Sensing of DNA Double Strand Breaks
Resolution of D-loop Structures through Synthesis-Dependent Strand Annealing (SDSA)
Recruitment and ATM-mediated phosphorylation of repair and signaling proteins at DNA double strand breaks
Resolution of D-loop Structures through Holliday Junction Intermediates
Nonhomologous End-Joining (NHEJ)
Homologous DNA Pairing and Strand Exchange
Processing of DNA double-strand break ends
Presynaptic phase of homologous DNA pairing and strand exchange
Regulation of TP53 Activity through Phosphorylation
G2/M DNA damage checkpoint

Associated diseases

Evidence Score:

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

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Acute myeloid leukemia	Likely pathogenic; Pathogenic	rs951805101	RCV005898498	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Ataxia-telangiectasia-like disorder	Likely pathogenic; Pathogenic	rs2134989336, rs2134999988, rs1946499901, rs587781381, rs587781384, rs371077728, rs587781822, rs2134831001, rs2134840569, rs2134999194, rs372411821, rs1565233979, rs1195401812, rs745677716, rs774277300, rs774440500, rs786203931, rs786202253, rs757691558, rs2496485739, rs2496386852, rs765675945, rs866104898, rs2496667489, rs2496384376, rs1299953525, rs2496481962, rs747832587, rs863224508, rs779269083, rs876660186, rs780001540, rs876659343, rs776912688, rs759130031, rs876659145, rs137852759, rs137852761, rs137852762, rs878854776, rs2496495153, rs780775598, rs2496427766, rs1946353272, rs1946676671, rs2496555781, rs2496555527, rs2496495665, rs2496399525, rs2496497653, rs2496361666, rs2496400489, rs2496208006, rs2496481690, rs745766916, rs2531482062, rs2496652464, rs759680878, rs2496618496, rs2496384744, rs2496653343, rs2496385772, rs2496361252, rs984874083, rs1215450873, rs1376550081, rs1555015413, rs1555017184, rs1295485913, rs1451215042, rs951805101, rs1591688367, rs371455048, rs1591681273, rs1565228898, rs1157436927, rs1245161888, rs1169667763, rs1157413766, rs1475506136, rs929767929, rs1440482403, rs1946857788, rs145058858, rs1946397259	RCV001379565 RCV001386975 RCV003771833 RCV002228305 RCV000797374 RCV000791403 RCV001376961 RCV002239096 RCV002239652 RCV002239124 RCV002239129 RCV002239153 RCV002239163 RCV001378979 RCV001034648 RCV001052500 RCV002228994 RCV001059474 RCV003103046 RCV003103091 RCV003757241 RCV003757243 RCV002584707 RCV002820162 RCV002838767 RCV002890943 RCV002895321 RCV001384423 RCV001067349 RCV002229537 RCV002229304 RCV000642442 RCV001378881 RCV003591720 RCV000812799 RCV003591718 RCV001034660 RCV000791361 RCV003591623 RCV000226518 RCV003757259 RCV003757271 RCV003757272 RCV003592413 RCV003592691 RCV003593182 RCV003593163 RCV003591463 RCV003591487 RCV003591451 RCV003591504 RCV003591610 RCV003757350 RCV003757385 RCV003757401 RCV003757479 RCV003757577 RCV003757780 RCV003757735 RCV003757865 RCV003757796 RCV003757874 RCV003758043 RCV002527494 RCV002232642 RCV001052429 RCV001247634 RCV002232091 RCV002231529 RCV003757187 RCV002526785 RCV000817556 RCV000817012 RCV001205827 RCV001201787 RCV003769460 RCV001386114 RCV002549452 RCV001037663 RCV002236081 RCV002549542 RCV001217467 RCV001210830 RCV001206365 RCV001241866	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Ataxia-telangiectasia-like disorder 1	Likely pathogenic; Pathogenic	rs2134999988, rs1946499901, rs2135024880, rs2135086294, rs2134969994, rs1185519347, rs587781381, rs587781384, rs371077728, rs587781822, rs587781828, rs2134840569, rs372411821, rs745677716, rs774277300, rs774440500, rs786202764, rs786202253, rs2496292658, rs757691558, rs747832587, rs765675945, rs866104898, rs863224508, rs779269083, rs876660186, rs780001540, rs759130031, rs876659145, rs137852759, rs137852761, rs137852762, rs137852763, rs878854776, rs2496495153, rs2496293545, rs2496495560, rs780775598, rs1216591891, rs2496387448, rs2496427766, rs2496360780, rs2496497808, rs2135122539, rs2135023557, rs2496568167, rs2496399657, rs2496426326, rs2496618496, rs2135047643, rs1475506136, rs2496280818, rs2496388153, rs1287311961, rs1264872458, rs2496461415, rs2496297231, rs2135149193, rs984874083, rs1555005270, rs1555009931, rs1555017184, rs1295485913, rs1451215042, rs951805101, rs371455048, rs1591681273, rs1565228898, rs1411087205, rs1180352898, rs1060501788, rs1157413766, rs145058858, rs1591693112, rs929767929, rs1440482403	RCV004570964 RCV003470877 RCV001784674 RCV001784675 RCV001784676 RCV001782455 RCV004567080 RCV000988624 RCV000662680 RCV000988623 RCV003467131 RCV003464408 RCV004572082 RCV001781515 RCV000627764 RCV003444061 RCV004567282 RCV003468726 RCV002488670 RCV003465768 RCV003147770 RCV005002840 RCV003465969 RCV003468896 RCV003462311 RCV003468973 RCV003469065 RCV003469031 RCV000410656 RCV003469030 RCV000009327 RCV000009329 RCV000009330 RCV000009331 RCV004567749 RCV003466031 RCV003470191 RCV003470192 RCV003470193 RCV003470194 RCV003470195 RCV003461877 RCV003470199 RCV003470200 RCV003476512 RCV003470201 RCV003470205 RCV003470206 RCV003461879 RCV003461880 RCV003470207 RCV003470208 RCV003470209 RCV003470210 RCV003470211 RCV004555206 RCV004576215 RCV004576218 RCV004576219 RCV004576221 RCV001783013 RCV005004251 RCV003465267 RCV004569154 RCV000662872 RCV003459355 RCV004569106 RCV004569725 RCV000995583 RCV000995807 RCV003467610 RCV003461315 RCV003467691 RCV003221309 RCV003467593 RCV001784556 RCV003467643 RCV003467663 RCV005012625	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Breast carcinoma	Likely pathogenic; Pathogenic	rs1946499901, rs780001540	RCV001669300 RCV001554327	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Colonic neoplasm	Likely pathogenic; Pathogenic	rs774277300	RCV001651033	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hereditary breast ovarian cancer syndrome	Likely pathogenic; Pathogenic	rs587781384, rs371077728, rs759130031, rs876659145, rs1215450873, rs757691558	RCV006249594 RCV002509233 RCV004794376 RCV002222449 RCV002222551 RCV004794475	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hereditary cancer-predisposing syndrome	Likely pathogenic; Pathogenic	rs2135086294, rs1359551200, rs587781381, rs587781384, rs371077728, rs587781822, rs587781828, rs587782030, rs2134999194, rs372411821, rs730881752, rs745677716, rs774277300, rs786203314, rs786203682, rs774440500, rs786202764, rs786202032, rs786203931, rs786202253, rs2496653611, rs2496292658, rs757691558, rs2496493871, rs2496427855, rs2496534663, rs1437693931, rs2496208006, rs2496485739, rs2496208753, rs2496621808, rs2496166703, rs1343179190, rs2496653723, rs1275867494, rs747832587, rs2496386852, rs2496360541, rs2134999584, rs2496297949, rs1591672744, rs765675945, rs863224508, rs779269083, rs876660269, rs876660186, rs780001540, rs876658665, rs876659343, rs776912688, rs876658917, rs759130031, rs876659145, rs137852759, rs137852761, rs878854776, rs1160887570, rs2496495153, rs2496555527, rs745766916, rs984874083, rs1555002387, rs1555002390, rs1264516058, rs1555002450, rs1555005270, rs1215450873, rs767787348, rs1376550081, rs1555009931, rs1555009945, rs1555017290, rs1555015413, rs1555017184, rs1555017238, rs1555002419, rs1555012083, rs1555018818, rs1295485913, rs201572020, rs1451215042, rs951805101, rs1565228898, rs1157436927, rs1411087205, rs1591652976, rs1591672201, rs1245161888, rs1180352898, rs1169667763, rs1591692886, rs1060501788, rs1591703044, rs1157413766, rs1591719208, rs1591634006, rs1475506136, rs145058858, rs1591693112, rs929767929, rs1591718826, rs1440482403	RCV003163922 RCV003182391 RCV000129209 RCV000129216 RCV000129234 RCV000130102 RCV000130113 RCV000130478 RCV002463148 RCV002463149 RCV000160577 RCV000166874 RCV000163701 RCV000166568 RCV000167093 RCV000163829 RCV000165739 RCV000164635 RCV000167449 RCV000164971 RCV002463225 RCV002463236 RCV002463306 RCV002463337 RCV002463345 RCV002460380 RCV002460543 RCV002460610 RCV002460864 RCV002460866 RCV002461404 RCV002461405 RCV002461408 RCV002461423 RCV002461433 RCV002461453 RCV002461460 RCV002461478 RCV002461500 RCV002461528 RCV002461558 RCV002461569 RCV002461580 RCV002461590 RCV000199221 RCV000197350 RCV000210166 RCV000218130 RCV000218839 RCV000216978 RCV000214897 RCV000221914 RCV000219565 RCV000220497 RCV000217276 RCV000215862 RCV000565698 RCV000130661 RCV002461001 RCV003182369 RCV003182373 RCV004369235 RCV004943138 RCV000561055 RCV000562766 RCV000565057 RCV000571911 RCV000566791 RCV000566492 RCV000564272 RCV000573958 RCV000575912 RCV000569572 RCV000569190 RCV000573906 RCV000571035 RCV000563905 RCV000574506 RCV000564005 RCV000563411 RCV000563007 RCV000564266 RCV000575073 RCV000566346 RCV000566920 RCV002462251 RCV001013538 RCV001013509 RCV001013245 RCV001012035 RCV001011818 RCV001011611 RCV001010337 RCV001017358 RCV001018549 RCV001026791 RCV001025374 RCV001024452 RCV001014602 RCV001013961 RCV001011042 RCV001010421 RCV001017845 RCV001021683 RCV001018788 RCV002462837	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
MRE11-related disorder	Likely pathogenic; Pathogenic	rs759130031	RCV003401135	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Ovarian cancer	Likely pathogenic	rs2496566673	RCV003154815	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Renal transitional cell carcinoma	Likely pathogenic; Pathogenic	rs1157413766	RCV001554263	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ATAXIA TELANGIECTASIA LIKE DISORDER	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dementia	Conflicting classifications of pathogenicity; Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Depression	Conflicting classifications of pathogenicity; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEPRESSIVE DISORDER	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dystonic disorder	Conflicting classifications of pathogenicity; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Eccrine porocarcinoma	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FAMILIAL OVARIAN CANCER	—	ClinGen	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ 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	—	ClinGen	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hereditary cancer	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lymphoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LYNCH SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of urinary bladder	Conflicting classifications of pathogenicity; other; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian neoplasm	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Parkinsonian disorder	Conflicting classifications of pathogenicity; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PARKINSONIAN DISORDERS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PREECLAMPSIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Premature ovarian insufficiency	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Triple-negative breast cancer	association	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Acute lymphocytic leukemia	Lymphocytic Leukemia	BEFREE	28579617		★☆☆☆☆ Found in Text Mining only
Acute Promyelocytic Leukemia	Promyelocytic Leukemia	BEFREE	25772236		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma	Adenocarcinoma	BEFREE	29973640		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	BEFREE	16948520		★☆☆☆☆ Found in Text Mining only
Adenoma	Adenoma	BEFREE	16948520		★☆☆☆☆ Found in Text Mining only
ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, NONDELETION TYPE, X-LINKED	alpha-Thalassemia Mental Retardation Syndrome, X-Linked	BEFREE	23329831		★☆☆☆☆ Found in Text Mining only
Alternating hemiplegia of childhood	Alternating hemiplegia of childhood	Pubtator	17693401	Associate	★☆☆☆☆ Found in Text Mining only
Anal carcinoma	Anal Cancer	BEFREE	28641314		★☆☆☆☆ Found in Text Mining only
Anemia Hemolytic	Hemolytic anemia	Pubtator	15257300	Associate	★☆☆☆☆ Found in Text Mining only
Apraxia oculomotor Cogan type	Apraxia	Pubtator	21324166	Associate	★☆☆☆☆ Found in Text Mining only
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	19451263	Associate	★☆☆☆☆ Found in Text Mining only
Ataxia	Ataxia	Pubtator	24030952	Associate	★☆☆☆☆ Found in Text Mining only
Ataxia Telangiectasia	Ataxia telangiectasia	Pubtator	10612394, 14747472, 18413776, 19444312, 20647759, 33571423, 9315668	Associate	★☆☆☆☆ Found in Text Mining only
Ataxia Telangiectasia	Ataxia Telangiectasia	BEFREE	14532133, 16038621, 17028372, 18066087, 18176557, 24332946, 25040471, 29973640, 31033087		★☆☆☆☆ Found in Text Mining only
Ataxia Telangiectasia Like Disorder	Ataxia telangiectasia	Pubtator	10612394, 11850399, 12966088, 14747472, 15047855, 15234984, 16417627, 19409520, 22139912, 23080121, 23912341, 24733832, 32211858, 32212377	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATAXIA, EARLY-ONSET, WITH OCULOMOTOR APRAXIA AND HYPOALBUMINEMIA	Ataxia-oculomotor apraxia	ORPHANET_DG	10612394		★☆☆☆☆ Found in Text Mining only
ATAXIA, EARLY-ONSET, WITH OCULOMOTOR APRAXIA AND HYPOALBUMINEMIA	Ataxia-oculomotor apraxia	BEFREE	18083591		★☆☆☆☆ Found in Text Mining only
ATAXIA-TELANGIECTASIA-LIKE DISORDER	Ataxia-Telangiectasia-Like Disorder	ORPHANET_DG	10612394		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
ATAXIA-TELANGIECTASIA-LIKE DISORDER	Ataxia-Telangiectasia-Like Disorder	CLINVAR_DG	10612394, 11371508, 21227757, 23080121, 23912341, 24763289, 25452441, 27329137, 29348823		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Ataxia-telangiectasia-like disorder	Ataxia-Telangiectasia-Like Disorder	Orphanet			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
ATAXIA-TELANGIECTASIA-LIKE DISORDER	Ataxia-Telangiectasia-Like Disorder	BEFREE	10801460, 12507302, 14690604, 14747472, 15269180, 15574463, 16417627, 18083591, 18575580, 18652530, 19409520, 20087742, 21227757, 21324166, 22139912, 23080121, 23436002, 23912341, 24332946, 28436950, 31033087		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
ATAXIA-TELANGIECTASIA-LIKE DISORDER	Ataxia-Telangiectasia-Like Disorder	CTD_human_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
ATAXIA-TELANGIECTASIA-LIKE DISORDER	Ataxia-Telangiectasia-Like Disorder	GENOMICS_ENGLAND_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Ataxia-Telangiectasisa-Like Disorder 1	Ataxia-telangiectasia-like disorder	GENOMICS_ENGLAND_DG	10612394, 2212727		★☆☆☆☆ Found in Text Mining only
Ataxia-Telangiectasisa-Like Disorder 1	Ataxia-telangiectasia-like disorder	CLINVAR_DG	10612394, 11371508, 14690604, 15269180, 19383352, 21227757, 22863007, 24763289, 25040471, 25503501, 28559769, 29170652, 8445618		★☆☆☆☆ Found in Text Mining only
Ataxia-Telangiectasisa-Like Disorder 1	Ataxia-telangiectasia-like disorder	UNIPROT_DG	10612394		★☆☆☆☆ Found in Text Mining only
Ataxia-Telangiectasisa-Like Disorder 1	Ataxia-telangiectasia-like disorder	BEFREE	10801460, 12507302, 14690604, 14747472, 15269180, 15574463, 16417627, 18083591, 18575580, 18652530, 19409520, 20087742, 21227757, 21324166, 22139912, 23080121, 23436002, 23912341, 24332946, 28436950, 31033087		★☆☆☆☆ Found in Text Mining only
B-Cell Lymphomas	B-Cell Lymphoma	BEFREE	28819025		★☆☆☆☆ Found in Text Mining only
Benign Prostatic Hyperplasia	Benign Prostatic Hyperplasia	BEFREE	29532862		★☆☆☆☆ Found in Text Mining only
Bladder Neoplasm	Bladder Neoplasm	BEFREE	18638378, 20843819, 24625413, 28363998, 30885775		★☆☆☆☆ Found in Text Mining only
Bloom Syndrome	Bloom syndrome	Pubtator	11916980, 15257300	Associate	★☆☆☆☆ Found in Text Mining only
Bone Marrow Diseases	Bone marrow diseases	Pubtator	26366868	Associate	★☆☆☆☆ Found in Text Mining only
Breast Cancer, Familial	Breast Cancer	CLINGEN_DG	10426999, 14511253, 14690604, 28073364, 9651580		★☆☆☆☆ Found in Text Mining only
Breast Cancer, Familial	Breast Cancer	BEFREE	16474176, 27783279		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	18553220, 19190165, 19383352, 19714462, 22914783, 25566853, 25788520, 28133604, 29361783, 29368209, 29678143, 30521029, 31353207		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Breast Carcinoma	Breast Carcinoma	HPO_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Breast Neoplasms	Breast neoplasm	Pubtator	12433983, 16091150, 16474176, 19383352, 21599985, 24894818, 26534844, 28891274, 29678143, 36232564, 39879120	Associate	★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	16417627, 16948520, 19181860	Associate	★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	38200309	Inhibit	★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	12007281, 16288216		★☆☆☆☆ Found in Text Mining only
Carcinoma Endometrioid	Endometrioid carcinoma	Pubtator	30783677	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	22065898	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma of bladder	Bladder carcinoma	BEFREE	18638378, 20843819, 24625413, 28363998, 30885775		★☆☆☆☆ Found in Text Mining only
Carcinoma of larynx	Laryngeal carcinoma	BEFREE	24079363		★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	21739480		★☆☆☆☆ Found in Text Mining only
Carcinoma Ovarian Epithelial	Epithelial ovarian carcinoma	Pubtator	28073364	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Pancreatic Ductal	Pancreatic ductal carcinoma	Pubtator	36409970	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Small Cell	Small cell carcinoma	Pubtator	33632300	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma, Endometrioid	Endometrioid cancer	BEFREE	30783677		★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	28073364		★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	BEFREE	22384017		★☆☆☆☆ Found in Text Mining only
Cerebellar Ataxia	Cerebellar ataxia	Pubtator	32211858	Associate	★☆☆☆☆ Found in Text Mining only
Cerebellar atrophy	Cerebellar atrophy	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Cerebellar atrophy	Cerebellar atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Childhood Acute Lymphoblastic Leukemia	Lymphoblastic Leukemia	BEFREE	24093751		★☆☆☆☆ Found in Text Mining only
Chromosomal Instability	Chromosomal instability	Pubtator	18299561	Associate	★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	18256278		★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic Neoplasms	LHGDN	18256278		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	11850399, 15048091, 18830935, 18941461, 21300766, 24215868, 30769804		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal Neoplasms	LHGDN	11850399, 18830935		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	11850399, 16905549, 18256278, 21300766, 23382697, 25310185, 26735576, 27329137, 33531658, 37372450	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal Neoplasms	BEFREE	15048091		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	26735576	Inhibit	★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms Hereditary Nonpolyposis	Lynch syndrome	Pubtator	15864295, 36833239	Associate	★☆☆☆☆ Found in Text Mining only
Deglutition Disorders	Dysphagia	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	29532862		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	29532862		★☆☆☆☆ Found in Text Mining only
Distal amyotrophy	Distal amyotrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Distal amyotrophy	Distal amyotrophy	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dysarthria	Dysarthria	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Dysarthria	Dysarthria	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dystonic Disorders	Dystonia	Pubtator	19409520	Associate	★☆☆☆☆ Found in Text Mining only
Endometrial Carcinoma	Endometrial carcinoma	BEFREE	15048091, 24927325, 31810920		★☆☆☆☆ Found in Text Mining only
Endometrial Hyperplasia	Endometrial hyperplasia	Pubtator	16948520	Associate	★☆☆☆☆ Found in Text Mining only
Endometrial Neoplasms	Endometrial neoplasm	Pubtator	23755103, 24927325	Associate	★☆☆☆☆ Found in Text Mining only
Epithelial ovarian cancer	Ovarian cancer	BEFREE	28073364		★☆☆☆☆ Found in Text Mining only
Esophageal Squamous Cell Carcinoma	Esophageal squamous cell carcinoma	Pubtator	23504502, 33605536	Associate	★☆☆☆☆ Found in Text Mining only
Esotropia	Esotropia	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Fanconi Anemia	Fanconi Anemia	BEFREE	11765064, 15257300, 23530059, 31537797		★☆☆☆☆ Found in Text Mining only
Fanconi Anemia	Fanconi anemia	Pubtator	15199173, 31537797	Associate	★☆☆☆☆ Found in Text Mining only
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)	Anemia	BEFREE	11765064, 23530059, 31537797		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	30535026		★☆☆☆☆ Found in Text Mining only
Head and Neck Carcinoma	Head And Neck Carcinoma	BEFREE	24079363		★☆☆☆☆ Found in Text Mining only
Head and Neck Neoplasms	Head and neck neoplasm	Pubtator	24079363	Associate	★☆☆☆☆ Found in Text Mining only
Hereditary Breast and Ovarian Cancer Syndrome	Hereditary Breast And Ovarian Cancer Syndrome	ORPHANET_DG	14684699, 22006311		★☆☆☆☆ Found in Text Mining only
Hereditary breast and ovarian cancer syndrome	Hereditary Breast And Ovarian Cancer Syndrome	Orphanet			★☆☆☆☆ Found in Text Mining only
Hereditary Breast and Ovarian Cancer Syndrome	Hereditary breast and ovarian cancer syndrome	Pubtator	24549055, 33510186, 38200309	Associate	★☆☆☆☆ Found in Text Mining only
Hereditary Breast and Ovarian Cancer Syndrome	Hereditary Breast And Ovarian Cancer Syndrome	CLINVAR_DG	26898890		★☆☆☆☆ Found in Text Mining only
Hereditary Diffuse Gastric Cancer	Gastric Cancer	BEFREE	31127894		★☆☆☆☆ Found in Text Mining only
Hereditary Malignant Neoplasm	Hereditary cancer	BEFREE	19383352, 28436950		★☆☆☆☆ Found in Text Mining only
Hyperopia	Hyperopia	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Infertility Male	Male infertility	Pubtator	31983050	Associate	★☆☆☆☆ Found in Text Mining only
Kaposi Sarcoma	Kaposi Sarcoma	BEFREE	28430817		★☆☆☆☆ Found in Text Mining only
Leiomyoma	Leiomyoma	Pubtator	30478352	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia	Leukemia	Pubtator	24093751	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	23349304	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia Promyelocytic Acute	Promyelocytic leukemia	Pubtator	34789078	Associate	★☆☆☆☆ Found in Text Mining only
Leukoplakia	Leukoplakia	BEFREE	23437280		★☆☆☆☆ Found in Text Mining only
Lingual-Facial-Buccal Dyskinesia	Orofacial dyskinesia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	22065898		★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus Systemic	Systemic lupus erythematosus	Pubtator	27492607	Associate	★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Systemic	Lupus Erythematosus	BEFREE	21693493		★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	31221177	Stimulate	★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	Pubtator	19917125	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lymphoma, Non-Hodgkin	Non-Hodgkin lymphoma	BEFREE	17169801, 19917125, 25010664		★☆☆☆☆ Found in Text Mining only
Lymphoma, Non-Hodgkin, Familial	Lymphoma	BEFREE	17169801, 19917125		★☆☆☆☆ Found in Text Mining only
Malignant Head and Neck Neoplasm	Head and neck cancer	BEFREE	24079363		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	18553220, 19190165, 19383352, 19714462, 22914783, 24120666, 25566853, 25788520, 28133604, 29361783, 29368209, 29678143, 30521029, 31353207		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	UNIPROT_DG			★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of endometrium	Endometrial Cancer	BEFREE	24927325, 31810920		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of gastrointestinal tract	Malignant gastrointestinal tract tumors	BEFREE	16417627		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of larynx	Larynx cancer	BEFREE	24079363		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	21739480		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	24240112, 28073364		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	UNIPROT_DG			★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	16417627		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	22864661, 29894706, 30305041, 31413753		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	HPO_DG			★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	15319296, 23504502, 23569343		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of urinary bladder	Urinary bladder cancer	BEFREE	18638378, 20843819, 24625413, 28363998, 30885775		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	11196167, 11850399, 14690604, 15034299, 15048091, 15279769, 15509680, 16087684, 16417627, 16474176, 16752129, 18056440, 18606567, 22078559, 22914783, 22983061, 23349304, 24079363, 24927325, 25742469, 25788520, 26735576, 28363998, 28512243, 28628639, 28819025, 29368209, 30769804		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	UNIPROT_DG			★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	18256278		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	BEFREE	12112527		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	LHGDN	17932350		★☆☆☆☆ Found in Text Mining only
Medulloblastoma	Medulloblastoma	Pubtator	19179424	Associate	★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	33077847	Associate	★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Mesothelioma	Mesothelioma	Pubtator	37556141	Associate	★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	BEFREE	21227757		★☆☆☆☆ Found in Text Mining only
Monoclonal Gammopathy of Undetermined Significance	Monoclonal Gammapathies	BEFREE	26366868		★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	BEFREE	20148879, 26366868		★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	Pubtator	26366868	Associate	★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial Infarction	BEFREE	31214252		★☆☆☆☆ Found in Text Mining only
Nasopharyngeal carcinoma	Nasopharyngeal Carcinoma	BEFREE	26951044		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	11196167, 16417627, 16948520, 17534377, 18256278, 18765539, 18830935, 19383352, 20843819, 21300766, 22914783, 22937147, 23569343, 23755103, 24079363, 24623370, 24625413, 28819025, 28967905, 30166519, 30612738, 31221177, 31353207		★☆☆☆☆ Found in Text Mining only
Neoplastic Syndromes, Hereditary	Hereditary Cancer Syndrome	CLINVAR_DG	10612394, 11371508, 15269180, 16038621, 16858402, 19383352, 21227757, 22006311, 22863007, 23436002, 23912341, 24763289, 25503501, 25801821, 26556299, 26580448, 26786923, 26898890, 27153395, 27329137, 28008555		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	30166519		★☆☆☆☆ Found in Text Mining only
Nicolaides Baraitser syndrome	Nicolaides Baraitser Syndrome	BEFREE	11448772		★☆☆☆☆ Found in Text Mining only
Nijmegen Breakage Syndrome	Nijmegen Breakage Syndrome	BEFREE	10391882, 10801460, 11238951, 11448772, 14532133, 14707289, 14747472, 15279810, 16478990, 18411307, 18575580, 19409520, 21227757, 22595804, 24349281, 28476809		★☆☆☆☆ Found in Text Mining only
Nijmegen Breakage Syndrome-Like Disorder	Nijmegen Breakage Syndrome-Like Disorder	ORPHANET_DG	21227757		★☆☆☆☆ Found in Text Mining only
Nijmegen breakage syndrome-like disorder	Nijmegen Breakage Syndrome-Like Disorder	Orphanet			★☆☆☆☆ Found in Text Mining only
Nystagmus, End-Position	Nystagmus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Oculomotor apraxia	Oculomotor apraxia	BEFREE	21324166		★☆☆☆☆ Found in Text Mining only
Oculomotor apraxia	Oculomotor apraxia	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Oculomotor apraxia	Oculomotor apraxia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Oculovestibuloauditory syndrome	Oculovestibuloauditory Syndrome	BEFREE	21324166		★☆☆☆☆ Found in Text Mining only
Oculovestibuloauditory syndrome	Oculovestibuloauditory Syndrome	HPO_DG			★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ovarian neoplasm	Ovarian neoplasm	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	20164540, 24240112, 24752797, 26718727, 37446144	Associate	★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	16417627		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasm	Pancreatic Neoplasm	HPO_DG			★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	26872382, 39256447	Associate	★☆☆☆☆ Found in Text Mining only
Precursor Cell Lymphoblastic Leukemia Lymphoma	Lymphoblastic Leukemia	BEFREE	28579617		★☆☆☆☆ Found in Text Mining only
Primary hypogonadism	Hypogonadism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Primary peritoneal carcinoma	Peritoneal Carcinoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Progressive cerebellar ataxia	Cerebellar Ataxia	BEFREE	31033087		★☆☆☆☆ Found in Text Mining only
Progressive cerebellar ataxia	Cerebellar Ataxia	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	22864661, 29894706, 30305041, 31413753		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	34388386, 37733366	Associate	★☆☆☆☆ Found in Text Mining only
Rectal Carcinoma	Rectal Carcinoma	BEFREE	30176843		★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	19451263, 31327667		★☆☆☆☆ Found in Text Mining only
Scoliosis, unspecified	Scoliosis	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Sensorimotor neuropathy	Sensorimotor neuropathy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Specific learning disability	Specific Learning Disorder	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Spinocerebellar Ataxia Autosomal Recessive 8	Spinocerebellar ataxia	Pubtator	21324166	Associate	★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	BEFREE	28641314, 29324736		★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	23437280, 33714009	Associate	★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	15319296, 23504502, 23569343, 31221177		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach Neoplasms	LHGDN	15319296		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	23504502, 23569343, 31127894, 31221177	Associate	★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple Negative Breast Neoplasms	BEFREE	26577420		★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple negative breast cancer	Pubtator	39879120	Associate	★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple Negative Breast Neoplasms	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
TUMOR PREDISPOSITION SYNDROME	TUMOR PREDISPOSITION SYNDROME	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Turcot syndrome	Turcot syndrome	Pubtator	15864295, 16025146	Associate	★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	20843819, 24625413, 33558481, 36383379, 40571318	Associate	★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	31488179	Associate	★☆☆☆☆ Found in Text Mining only
Vertical Nystagmus	Vertical nystagmus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Werner Syndrome	Werner Syndrome	BEFREE	14988932, 15467456		★☆☆☆☆ Found in Text Mining only
Werner Syndrome	Werner syndrome	Pubtator	15026416	Associate	★☆☆☆☆ Found in Text Mining only
Xeroderma Pigmentosum	Xeroderma pigmentosum	Pubtator	11756691	Associate	★☆☆☆☆ Found in Text Mining only