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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	4361
Gene name	MRE11 double strand break repair nuclease
Gene symbol	MRE11
Synonyms (NCBI Gene)	ATLDHNGS1MRE11AMRE11B
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

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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

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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

Show/Hide all (97)

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

MIM	HGNC	e!Ensembl
600814	7230	ENSG00000020922

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

Interactions

View interactions

	KEGG		Reactome
	Homologous recombination Non-homologous end-joining Cellular senescence		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

3210

Show/Hide Causal Diseases (10)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Acute myeloid leukemia	Likely pathogenic; Pathogenic	rs951805101	RCV005898498
Ataxia-telangiectasia-like disorder	Likely pathogenic; Pathogenic	rs2134989336, rs2134999988, rs1946499901, rs587781381, rs587781384, rs371077728, rs587781822, rs2134831001, rs2134840569, rs2134999194, rs372411821, rs1565233979, rs1195401812, rs745677716, rs774277300 View all (70 more)	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
Ataxia-telangiectasia-like disorder 1	Likely pathogenic; Pathogenic	rs2134999988, rs1946499901, rs2135024880, rs2135086294, rs2134969994, rs1185519347, rs587781381, rs587781384, rs371077728, rs587781822, rs587781828, rs2134840569, rs372411821, rs745677716, rs774277300 View all (61 more)	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
Breast carcinoma	Likely pathogenic; Pathogenic	rs1946499901, rs780001540	RCV001669300 RCV001554327
Colonic neoplasm	Likely pathogenic; Pathogenic	rs774277300	RCV001651033
Hereditary breast ovarian cancer syndrome	Likely pathogenic; Pathogenic	rs587781384, rs371077728, rs759130031, rs876659145, rs1215450873, rs757691558	RCV006249594 RCV002509233 RCV004794376 RCV002222449 RCV002222551 RCV004794475
Hereditary cancer-predisposing syndrome	Likely pathogenic; Pathogenic	rs2135086294, rs1359551200, rs587781381, rs587781384, rs371077728, rs587781822, rs587781828, rs587782030, rs2134999194, rs372411821, rs730881752, rs745677716, rs774277300, rs786203314, rs786203682 View all (87 more)	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
MRE11-related disorder	Likely pathogenic; Pathogenic	rs759130031	RCV003401135
Ovarian cancer	Likely pathogenic	rs2496566673	RCV003154815
Renal transitional cell carcinoma	Likely pathogenic; Pathogenic	rs1157413766	RCV001554263

Show/Hide Unknown Diseases (24)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
-	no classification for the single variant	rs863224896	-
Cervical cancer	Benign; Likely benign	rs79462788, rs35062043	RCV005918302 RCV005867912
Dementia	Conflicting classifications of pathogenicity; Uncertain significance	rs139461096, rs779269083	RCV000626883 RCV000626884
Depression	Conflicting classifications of pathogenicity; Uncertain significance	rs139461096, rs779269083	RCV000626883 RCV000626884
Dystonic disorder	Conflicting classifications of pathogenicity; Uncertain significance	rs139461096, rs779269083	RCV000626883 RCV000626884
Eccrine porocarcinoma	Uncertain significance	rs1170382104	RCV003459026
Gastric cancer	Benign; Likely benign	rs35062043	RCV005867914
Hepatocellular carcinoma	Benign; Conflicting classifications of pathogenicity	rs1014666, rs139461096	RCV005921913 RCV005887927
Hereditary cancer	Conflicting classifications of pathogenicity	rs142996063	RCV005229912
Lung cancer	Benign	rs79462788	RCV005918305
Lymphoma	Benign	rs1805363	RCV005893047
Malignant lymphoma, large B-cell, diffuse	Benign; Likely benign	rs35062043	RCV005867913
Malignant tumor of esophagus	Likely benign; Benign	rs12277561, rs12291000, rs116366202, rs35062043	RCV005914773 RCV005917508 RCV005917834 RCV005867911
Malignant tumor of urinary bladder	Conflicting classifications of pathogenicity; other; Uncertain significance	rs144896235, rs397509348, rs397509349, rs397509346, rs397509347, rs183829476, rs397509350, rs369782842, rs200367125, rs397509352, rs140067184, rs146779325, rs192979170, rs397509353, rs397509354 View all (9 more)	RCV005886931 RCV000054452 RCV000054453 RCV000054454 RCV000054455 RCV000054456 RCV000054457 RCV000054458 RCV000054459 RCV000054460 RCV000054461 RCV000054462 RCV000054463 RCV000054464 RCV000054465 RCV000054466 RCV000054467 RCV000054468 RCV000054469 RCV000054470 RCV000054471 RCV000054472 RCV000054473 RCV000054487
Ovarian neoplasm	Uncertain significance	rs143400546	RCV000415455
Ovarian serous cystadenocarcinoma	Benign	rs79462788, rs1061956	RCV005918303 RCV005893045
Parkinsonian disorder	Conflicting classifications of pathogenicity; Uncertain significance	rs139461096, rs779269083	RCV000626883 RCV000626884
Premature ovarian insufficiency	Conflicting classifications of pathogenicity	rs199736271	RCV000766156
See cases	Uncertain significance	rs774277300, rs1222130330	RCV002252012 RCV002252168
Thymoma	Benign	rs79462788, rs1805363	RCV005918304 RCV005893049
Thyroid cancer, nonmedullary, 1	Conflicting classifications of pathogenicity	rs371077728	RCV005889630
Triple-negative breast cancer	association	rs863225441	RCV000202377
Uterine carcinosarcoma	Benign	rs2155209, rs1805363	RCV005893044 RCV005893048
Uterine corpus endometrial carcinoma	Benign; Likely benign	rs79462788, rs35062043, rs1805363	RCV005918306 RCV005867915 RCV005893050

Show/Hide Text Mining Associations (89)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Adenocarcinoma of Lung	Associate	16948520, 40181846
Anemia Hemolytic	Associate	15257300
Apraxia oculomotor Cogan type	Associate	21324166
Arrest of spermatogenesis	Associate	31983050
Arthritis Rheumatoid	Associate	19451263
Ataxia	Associate	24030952
Ataxia Telangiectasia	Associate	10612394, 14747472, 18413776, 19444312, 20647759, 33571423, 9315668
Ataxia Telangiectasia Like Disorder	Associate	10612394, 11850399, 12966088, 14747472, 15047855, 15234984, 16417627, 19409520, 22139912, 23080121, 23912341, 24733832, 32211858, 32212377
ATR X syndrome	Associate	23329831, 31628488
Bloom Syndrome	Associate	11916980, 15257300
Bone Marrow Diseases	Associate	26366868
Breast Neoplasms	Associate	12433983, 16091150, 16474176, 19383352, 21599985, 24894818, 26534844, 28891274, 29678143, 36232564, 39879120
Carcinogenesis	Associate	16417627, 16948520, 19181860
Carcinogenesis	Inhibit	38200309
Carcinoma Endometrioid	Associate	30783677
Carcinoma Hepatocellular	Associate	22065898
Carcinoma Ovarian Epithelial	Associate	28073364
Carcinoma Pancreatic Ductal	Associate	36409970
Carcinoma Small Cell	Associate	33632300
Cell Transformation Neoplastic	Associate	22078559
Cerebellar Ataxia	Associate	32211858
Chromosomal Instability	Associate	18299561
Chromosomal Instability with Tissue Specific Radiosensitivity	Associate	15234984
Chromosome Aberrations	Associate	12966088
Chromosome Breakage	Associate	36833239
Colorectal Neoplasms	Associate	11850399, 16905549, 18256278, 21300766, 23382697, 25310185, 26735576, 27329137, 33531658, 37372450
Colorectal Neoplasms	Inhibit	26735576
Colorectal Neoplasms Hereditary Nonpolyposis	Associate	15864295, 36833239
Death	Associate	37372450
Disease	Associate	10612394, 21599985
DNA Virus Infections	Associate	23112151
Drug Hypersensitivity	Associate	23080121
Drug Related Side Effects and Adverse Reactions	Associate	21300766
Dystonic Disorders	Associate	19409520
Early onset ataxia with oculomotor apraxia and hypoalbuminemia	Associate	14532133, 21324166
Endometrial Hyperplasia	Associate	16948520
Endometrial Neoplasms	Associate	23755103, 24927325
Esophageal Squamous Cell Carcinoma	Associate	23504502, 33605536
Fanconi Anemia	Associate	15199173, 31537797
Fever	Associate	15195510, 17558733, 21290468
Genetic Diseases Inborn	Associate	19917125, 24894818
Genomic Instability	Associate	14532133
Head and Neck Neoplasms	Associate	24079363
Hereditary Breast and Ovarian Cancer Syndrome	Associate	24549055, 33510186, 38200309
HIV Infections	Associate	39178742
Hypoxia Brain	Inhibit	30943920
Infections	Associate	15858005, 17151099
Infertility Male	Associate	31983050
Leiomyoma	Associate	30478352
Leukemia	Associate	24093751
Leukemia Lymphocytic Chronic B Cell	Associate	18077792
Leukemia Myeloid Acute	Associate	23349304
Leukemia Promyelocytic Acute	Associate	34789078
Leukoplakia	Associate	23437280
Lupus Erythematosus Systemic	Associate	27492607
Lymphatic Metastasis	Stimulate	31221177
Lymphoma	Associate	19917125
Lymphoma Non Hodgkin	Associate	19917125, 25010664
Male Infertility with Large Headed Multiflagellar Polyploid Spermatozoa	Associate	24803180, 31983050
Medulloblastoma	Associate	19179424
Melanoma	Associate	33077847
Mesothelioma	Associate	37556141
Microsatellite Instability	Associate	16417627, 21300766, 23349304, 33170334, 35474354, 36833239
Multiple Myeloma	Associate	26366868
Neoplasm Metastasis	Associate	31221177
Neoplasms	Associate	11850399, 15150571, 16025146, 16474176, 16948520, 18023605, 18256278, 19179424, 19383352, 20679231, 20843819, 22078559, 22983061, 23080121, 23349304 View all (21 more)
Neoplasms	Inhibit	20148879, 22773873, 26735576
Nerve Degeneration	Associate	17706468
Nijmegen Breakage Syndrome	Associate	10346816, 10391882, 10612394, 11238951, 11448772, 12966088, 14532133, 15026416, 15234984, 19409520, 32212377, 9590181, 9705271
Nijmegen Breakage Syndrome Like Disorder	Associate	19409520
Non Muscle Invasive Bladder Neoplasms	Associate	24623370, 24625413, 36383379
Ovarian Neoplasms	Associate	20164540, 24240112, 24752797, 26718727, 37446144
Pancreatic Neoplasms	Associate	26872382, 39256447
Precursor Cell Lymphoblastic Leukemia Lymphoma	Associate	24093751
Prostatic Neoplasms	Associate	34388386, 37733366
Radiation Injuries	Associate	23080121
Rectal Neoplasms	Associate	27930716, 30176843
Sertoli Cell Only Syndrome	Associate	31983050
Spinocerebellar Ataxia Autosomal Recessive 8	Associate	21324166
Spinocerebellar Degenerations	Associate	23912341, 24030952
Squamous Cell Carcinoma of Head and Neck	Associate	23437280, 33714009
Stomach Neoplasms	Associate	23504502, 23569343, 31127894, 31221177
Triple Negative Breast Neoplasms	Associate	39879120
Turcot syndrome	Associate	15864295, 16025146
Urinary Bladder Neoplasms	Associate	20843819, 24625413, 33558481, 36383379, 40571318
Uterine Cervical Neoplasms	Associate	31488179
UV Sensitive Syndrome	Associate	11756691
Werner Syndrome	Associate	15026416
Xeroderma Pigmentosum	Associate	11756691

MRE11 (MRE11 double strand break repair nuclease)