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MRE11 (MRE11 double strand break repair nuclease)

Gene

4361

MRE11 double strand break repair nuclease

MRE11

ATLD, HNGS1, MRE11A, MRE11B

11q21

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

Show/Hide all(91)

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

Show/Hide all(251)

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(66)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000014	Function	Single-stranded DNA endodeoxyribonuclease activity	IBA	21873635
GO:0000014	Function	Single-stranded DNA endodeoxyribonuclease activity	IDA	9705271
GO:0000019	Process	Regulation of mitotic recombination	TAS	8530104
GO:0000723	Process	Telomere maintenance	IBA	21873635
GO:0000724	Process	Double-strand break repair via homologous recombination	IBA	21873635
GO:0000724	Process	Double-strand break repair via homologous recombination	IDA	29670289, 30612738
GO:0000724	Process	Double-strand break repair via homologous recombination	TAS
GO:0000729	Process	DNA double-strand break processing	TAS
GO:0000781	Component	Chromosome, telomeric region	HDA	19135898
GO:0000781	Component	Chromosome, telomeric region	IDA	10811102
GO:0000781	Component	Chromosome, telomeric region	IDA	15149599, 24270157
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	TAS	15790808
GO:0004520	Function	Endodeoxyribonuclease activity	IDA	9705271
GO:0004520	Function	Endodeoxyribonuclease activity	TAS
GO:0005515	Function	Protein binding	IPI	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	TAS
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005657	Component	Replication fork	IDA	29290612
GO:0005737	Component	Cytoplasm	IDA	25468996
GO:0005829	Component	Cytosol	TAS
GO:0006260	Process	DNA replication	TAS
GO:0006281	Process	DNA repair	TAS	9705271, 9931460
GO:0006302	Process	Double-strand break repair	TAS	10612394
GO:0006303	Process	Double-strand break repair via nonhomologous end joining	IBA	21873635
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
GO:0006310	Process	DNA recombination	TAS	9705271
GO:0006974	Process	Cellular response to DNA damage stimulus	IDA	17500065, 29670289
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	IBA	21873635
GO:0007129	Process	Homologous chromosome pairing at meiosis	IEA
GO:0007131	Process	Reciprocal meiotic recombination	TAS	8530104, 9931460
GO:0008022	Function	Protein C-terminus binding	IPI	9590181
GO:0008283	Process	Cell population proliferation	IEA
GO:0008408	Function	3'-5' exonuclease activity	IDA	9651580, 9705271
GO:0008409	Function	5'-3' exonuclease activity	IDA	29670289
GO:0016032	Process	Viral process	IEA
GO:0016605	Component	PML body	IDA	10811102
GO:0016605	Component	PML body	ISS
GO:0030145	Function	Manganese ion binding	IEA
GO:0030870	Component	Mre11 complex	IBA	21873635
GO:0030870	Component	Mre11 complex	IDA	19151086
GO:0030870	Component	Mre11 complex	NAS	15790808
GO:0030870	Component	Mre11 complex	TAS	27918544
GO:0031573	Process	Intra-S DNA damage checkpoint	IBA	21873635
GO:0031860	Process	Telomeric 3' overhang formation	IMP	16374507
GO:0031954	Process	Positive regulation of protein autophosphorylation	IDA	15790808
GO:0032206	Process	Positive regulation of telomere maintenance	IMP	16374507
GO:0032481	Process	Positive regulation of type I interferon production	TAS
GO:0032508	Process	DNA duplex unwinding	IMP	15790808
GO:0033674	Process	Positive regulation of kinase activity	IDA	15790808
GO:0035861	Component	Site of double-strand break	IBA	21873635
GO:0035861	Component	Site of double-strand break	IDA	15916964, 30612738
GO:0042138	Process	Meiotic DNA double-strand break formation	IBA	21873635
GO:0042802	Function	Identical protein binding	IPI	22078559
GO:0043066	Process	Negative regulation of apoptotic process	IMP	16374507
GO:0045296	Function	Cadherin binding	HDA	25468996
GO:0097552	Process	Mitochondrial double-strand break repair via homologous recombination	IBA	21873635
GO:0110025	Process	DNA strand resection involved in replication fork processing	IDA	29670289
GO:1901796	Process	Regulation of signal transduction by p53 class mediator	TAS

MIM	HGNC	e!Ensembl
600814	7230	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

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

Associated diseases

Show/Hide Causal Diseases (13)

Causal
Disease name	Disease term	dbSNP ID	References
Ataxia-oculomotor apraxia	ATAXIA, EARLY-ONSET, WITH OCULOMOTOR APRAXIA AND HYPOALBUMINEMIA	rs587776593, rs121908131, rs587776594, rs121908132, rs121908133, rs1587330671, rs104894103, rs267606665, rs587784365, rs587784366, rs786203983, rs886037744, rs1555810613, rs786205207, rs201912053, rs1114167423, rs904293109, rs1563963464, rs1563945076, rs756746191	10612394
Ataxia-telangiectasia-like disorder	ATAXIA-TELANGIECTASIA-LIKE DISORDER, Ataxia-Telangiectasisa-Like Disorder 1	rs137852759, rs137852761, rs137852762, rs587781381, rs587781384, rs371077728, rs587781822, rs745677716, rs774277300, rs774440500, rs786203931, rs786202253, rs747832587, rs863224508, rs779269083, rs876660186, rs780001540, rs876659343, rs776912688, rs759130031, rs876659145, rs878854776, rs984874083, rs1215450873, rs1376550081, rs1555015413, rs1555017184, rs1295485913, rs1451215042, rs951805101, rs1591688367, rs371455048, rs1274412848, rs1591681273, rs1565228898, rs1157436927, rs1245161888, rs1169667763, rs1157413766, rs1475506136, rs929767929	11371508, 27329137, 21227757, 10612394, 29348823, 23080121, 25452441, 23912341, 24763289, 10612394, 25503501, 15269180, 19383352, 11371508, 24763289, 25040471, 14690604, 21227757, 28559769, 29170652, 2212727, 22863007, 8445618
Breast cancer	Malignant neoplasm of breast, Breast Cancer, Familial	rs587776547, rs1137887, rs137853007, rs587776650, rs80359351, rs80359714, rs121917783, rs104886456, rs121964878, rs80359874, rs80357868, rs80357508, rs387906843, rs80357569, rs80358158, rs80357524, rs80357115, rs80357945, rs80357729, rs80357609, rs80357259, rs80357981, rs80358063, rs80357389, rs80356862, rs80359876, rs80357580, rs80358053, rs80358089, rs80187739, rs397507241, rs80358069, rs80357590, rs80357284, rs80357941, rs80359261, rs80359272, rs80359276, rs276174813, rs80358474, rs80359316, rs1555282969, rs80359388, rs80359499, rs80359505, rs80359520, rs80359526, rs80359533, rs56253082, rs80358824, rs80359554, rs80359636, rs80359651, rs80359659, rs80359011, rs80359012, rs80359013, rs80359718, rs397507410, rs81002812, rs80359730, rs80359152, rs80359159, rs397507419, rs28897759, rs80359211, rs80359775, rs397514577, rs397507584, rs80358435, rs80358456, rs80359340, rs80359343, rs80359365, rs80358579, rs397507670, rs80358593, rs80359406, rs80359444, rs80359454, rs276174853, rs276174854, rs80359483, rs80359537, rs80358815, rs80358843, rs80359558, rs80359560, rs80359594, rs80358893, rs28897743, rs397507900, rs397507906, rs397507918, rs80358971, rs80358981, rs397507941, rs80359030, rs80359035, rs41293511, rs397507396, rs81002806, rs80359112, rs397508006, rs81002893, rs45580035, rs80359760, rs397508051, rs80359772, rs4987049, rs80359777, rs80357770, rs397508867, rs62625303, rs397508874, rs80357506, rs80357287, rs273898674, rs80358042, rs80358083, rs80357058, rs41286296, rs80357960, rs80356945, rs80357223, rs386134270, rs80358116, rs80357856, rs80357424, rs397509050, rs80357485, rs80357966, rs397509067, rs80357310, rs80356866, rs80357260, rs80357437, rs80358023, rs80358086, rs80357133, rs80356993, rs80357997, rs80357239, rs80357227, rs397509243, rs80356969, rs80356959, rs63750617, rs63751319, rs587779315, rs200640585, rs398122546, rs80357543, rs398122687, rs80359328, rs398122779, rs398122783, rs62517194, rs80358029, rs515726060, rs180177103, rs180177111, rs180177133, rs587776527, rs180177135, rs180177136, rs515726117, rs587779813, rs587779909, rs587780024, rs587780100, rs28909982, rs121908698, rs180177100, rs587780210, rs587780240, rs587780639, rs587781269, rs587781353, rs587781471, rs587781658, rs587781697, rs587781730, rs587781894, rs587781948, rs587782005, rs587782011, rs200928781, rs587781558, rs370228071, rs587782245, rs587782401, rs180177110, rs587782504, rs72552322, rs587782531, rs587782620, rs587782680, rs587782774, rs587782818, rs730881411, rs730881389, rs564652222, rs397507768, rs587776419, rs730881868, rs730881940, rs56383036, rs758972589, rs201089102, rs730881348, rs786202608, rs786201886, rs786203318, rs786203775, rs786203714, rs786202033, rs750621215, rs786203884, rs786203650, rs772821016, rs863224521, rs864622223, rs864622655, rs375699023, rs876659572, rs768362387, rs876659535, rs876658957, rs483353072, rs876659435, rs267608041, rs876661113, rs730881369, rs878853535, rs772228129, rs878855122, rs760551339, rs80359596, rs397509222, rs886039630, rs886039683, rs886040828, rs587781799, rs886040374, rs886040649, rs397507967, rs878854957, rs886040043, rs1057517589, rs1060502769, rs866380588, rs863224765, rs1064793243, rs747563556, rs1555074976, rs1064795885, rs753961188, rs1064794708, rs869312772, rs1064793887, rs1131690820, rs1135401928, rs1135401868, rs1135401859, rs1553370324, rs397507630, rs1555283160, rs1555283251, rs1555283262, rs1555283361, rs1555286298, rs1555288462, rs886040950, rs1555289566, rs776323117, rs80357123, rs1555579627, rs1555580697, rs80358054, rs1555593302, rs1328985852, rs763470424, rs1555139694, rs878854697, rs1555461217, rs1555461765, rs774684620, rs766416564, rs1554558613, rs1305740166, rs1555461460, rs1555461407, rs1555461586, rs1555567202, rs1555607022, rs1555069815, rs1442299125, rs1474786480, rs1555084947, rs1555457867, rs141087784, rs1482641121, rs1564830522, rs1565469955, rs1565503137, rs864622613, rs755263466, rs757679199, rs1593903166, rs1597801649, rs1603293306, rs879253880, rs80358754, rs1597062038, rs45494092, rs1603275367, rs887358871, rs1597091518, rs1966967065, rs1064793049, rs2082872908, rs2085078278, rs2072475243	28073364, 9651580, 14511253, 14690604, 10426999
Breast carcinoma	Breast Carcinoma	rs80359671, rs11540652, rs28934575, rs28897672, rs137886232, rs193922376, rs80357783, rs80359306, rs80359405, rs80359507, rs80359598, rs80358429, rs397507683, rs397515636, rs80359451, rs397507859, rs80359709, rs80359742, rs80359205, rs80357627, rs80357004, rs80357571, rs80357767, rs80357653, rs80358086, rs80357608, rs28897696, rs41293465, rs146650273, rs63751017, rs63750617, rs63750726, rs63750199, rs63749848, rs398122618, rs398122653, rs397509211, rs80357791, rs121912666, rs587778541, rs121908698, rs536907995, rs587781302, rs140342925, rs587781506, rs587782652, rs587782849, rs587783057, rs10520699, rs11852999, rs139770721, rs374950566, rs786202800, rs863224451, rs377153250, rs747727055, rs876658804, rs780001540, rs760815829, rs878854926, rs775248597, rs886040658, rs886040192, rs786203523, rs886040319, rs397508006, rs587782011, rs1060502772, rs1555461727, rs1553333072, rs1114167702, rs1257401983, rs886040950, rs1060502759, rs774684620, rs142947311, rs1555580883, rs748513310, rs376170600, rs863224499, rs1593909229, rs748453607, rs1294578913, rs1574737047, rs1593909960, rs2081922847, rs2082559544, rs2053694038
Cerebellar ataxia	Progressive cerebellar ataxia	rs28936415, rs199476133, rs540331226, rs797046006, rs863224069, rs138358708, rs1057519429, rs750959420, rs1568440440, rs1597846084, rs759460806, rs761486324, rs1240335250, rs1596489887
Melanoma	melanoma	rs121913315, rs121913323, rs137853080, rs137853081, rs121909232, rs121913388, rs104894094, rs1563902635, rs104894095, rs104894097, rs104894098, rs104894099, rs104894109, rs137854599, rs11547328, rs104894340, rs398123152, rs587780668, rs587782083, rs587782206, rs587782792, rs180177042, rs121913381, rs730881675, rs730881674, rs730881677, rs730881673, rs1800586, rs768966657, rs587778189, rs786204195, rs121913321, rs45476696, rs864622636, rs864622263, rs869025340, rs876660436, rs876658534, rs876658556, rs878853647, rs878853644, rs878853650, rs886041162, rs121913389, rs1057519852, rs121913384, rs121913387, rs1060501266, rs1060501263, rs1060501262, rs749714198, rs1060501265, rs559848002, rs1064794292, rs1131691187, rs1131691186, rs199907548, rs1554654052, rs1554656411, rs1554656624, rs1554653915, rs1554653956, rs1554656253, rs1554654224, rs754806883, rs1057520039, rs1563889584, rs1563889685, rs1287464120, rs1563888944, rs1563892715, rs1563889847, rs141798398, rs1587332338, rs1587340291, rs11552823, rs561034503, rs138677674, rs1819962958, rs1820531050
Nijmegen breakage syndrome-like disorder	Nijmegen Breakage Syndrome-Like Disorder	rs121912628, rs397507177, rs104895046, rs587780150, rs587780154, rs377260382, rs587781904, rs587781930, rs587782078, rs587782090, rs587782543, rs587782895, rs786203485, rs760146707, rs764122619, rs786203655, rs373428259, rs587781327, rs786201789, rs786201897, rs786203805, rs786202187, rs750586158, rs778555849, rs149201802, rs748086984, rs876659255, rs876659005, rs876660957, rs587780147, rs876660364, rs368980595, rs775069541, rs762648843, rs745797941, rs761168506, rs876658770, rs749466673, rs878854799, rs1060501941, rs1060501970, rs766315644, rs1060501936, rs1458900761, rs587781454, rs995265408, rs1060501954, rs1060501942, rs377429225, rs772468452, rs1554099888, rs765484171, rs1554101314, rs1247689593, rs1236278956, rs764968413, rs587781742, rs1554099106, rs142947311, rs1554098250, rs748536322, rs773761143, rs765975825, rs1554099320, rs761837416, rs1554099776, rs1554100940, rs1339714611, rs1554096791, rs1561634357, rs1561635887, rs753950483, rs1561647410, rs1561639636, rs1561661777, rs758641567, rs1580997203, rs1580987798, rs1580987375, rs1750646869, rs757261714, rs1581004859, rs1751171297	21227757
Nystagmus	Nystagmus, End-Position	rs137852207, rs137852208, rs1928435502, rs137852209, rs137852210, rs1929191668, rs137852211, rs137852212, rs2124209414, rs387906720, rs387906721, rs1602791884, rs786205896
Ovarian cancer	Malignant neoplasm of ovary	rs34424986, rs137853060, rs28934575, rs79658334, rs121913021, rs62625308, rs80356898, rs80357579, rs41293497, rs80356904, rs80357471, rs80357522, rs80357234, rs80357912, rs80357828, rs80357208, rs55770810, rs80358165, rs80358010, rs587780226, rs536907995, rs139414606, rs371638537, rs574552037, rs730881647, rs747993448, rs786202125, rs786202962, rs121913321, rs189261858, rs869320800, rs753023295, rs779466229, rs752411477, rs80357438, rs191486604, rs760874290, rs752780954, rs760782298, rs1555591361, rs1555578360, rs1555588460, rs1555587401, rs747427602, rs112675807, rs80357393
Prostate cancer	Malignant neoplasm of prostate	rs121909139, rs121909140, rs121909141, rs121909142, rs121909143, rs606231169, rs606231170, rs137852584, rs137852578, rs137852580, rs137852581, rs137852582
Scoliosis	Scoliosis, unspecified	rs1057518828, rs147296805, rs758163506, rs1555613564, rs1596852902, rs1596853067, rs1596853085
Triple negative breast neoplasms	Triple Negative Breast Neoplasms	rs80357691, rs863225441
Tumor predisposition syndrome	TUMOR PREDISPOSITION SYNDROME	rs587776877, rs587776878, rs587776879, rs387906848, rs387906849, rs276174859, rs397509413, rs397509414, rs587777476, rs587777478, rs797045169, rs864622592, rs869025212, rs869312757, rs878854741, rs886058705, rs1060503743, rs1060503731, rs143901408, rs1553645806, rs1060503750, rs1553645809, rs1060503744, rs1060503732, rs1060503735, rs1060503727, rs1060503726, rs1553645136, rs1064795638, rs1205668341, rs1064794328, rs1351986946, rs1553645126, rs776240891, rs1553644634, rs1553645591, rs1553645725, rs1553645785, rs1553645838, rs1553644949, rs866612394, rs1554420583, rs1554434788, rs756198077, rs1554429221, rs1553644815, rs1553645586, rs1553645164, rs1553646045, rs1553646367, rs1553645146, rs1553645729, rs1553645492, rs1553645117, rs1553644659, rs1553645497, rs1553644922, rs1553645720, rs1553646284, rs1553646294, rs1554429205, rs750470470, rs1554416461, rs1553645486, rs1397398300, rs1559589252, rs1559586374, rs1253151209, rs916069743, rs1559593389, rs1562981766, rs1563008413, rs1559586168, rs1559589809, rs1559586782, rs1559591511, rs1562981913, rs976603098, rs1559587104, rs200156887, rs1559593339, rs1562997292, rs1559585778, rs1559590613, rs1578219056, rs1578223103, rs1578223503, rs1578224271, rs1578225176, rs1578225793, rs1584749232, rs531061783, rs1584773024, rs1584510207, rs1578218644, rs1578218746, rs1578220161, rs1578221396, rs775451516, rs1578230334, rs1584777699, rs1578218761, rs1578222261, rs1578224341, rs1578225864, rs1705034786, rs869160449, rs1391804672, rs1705139320, rs1705237553, rs1705238769, rs1794873983, rs1410842025, rs1562981898, rs746091720, rs918544320, rs1795853533, rs1796391959, rs1794702760, rs1225878757

Show/Hide Unknown Diseases (20)

Unknown
Disease name	Disease term	dbSNP ID	References
Hereditary cancer syndrome	Neoplastic Syndromes, Hereditary		16858402, 25503501, 23436002, 16038621, 26580448, 27153395, 22006311, 26898890, 10612394, 26556299, 28008555, 24763289, 26786923, 27329137, 21227757, 19383352, 11371508, 15269180, 22863007, 25801821, 23912341
Cerebellar atrophy	Cerebellar atrophy
Distal amyotrophy	Distal amyotrophy	rs1457770815
Dwarfism	Dwarfism
Dysarthria	Dysarthria
Dysphagia	Deglutition Disorders
Esotropia	Esotropia
Hereditary breast and ovarian cancer syndrome	Hereditary Breast and Ovarian Cancer Syndrome		26898890, 14684699, 22006311
Hyperopia	Hyperopia
Hypogonadism	Primary hypogonadism
Orofacial dyskinesia	Lingual-Facial-Buccal Dyskinesia
Malignant neoplasm	Malignant Neoplasms
Oculomotor apraxia	Oculomotor apraxia
Oculovestibuloauditory syndrome	Oculovestibuloauditory syndrome
Ovarian neoplasm	ovarian neoplasm
Pancreatic neoplasm	Pancreatic Neoplasm
Peritoneal carcinoma	Primary peritoneal carcinoma
Sensorimotor neuropathy	Sensorimotor neuropathy
Specific learning disorder	Specific learning disability	rs1057519497
Vertical nystagmus	Vertical Nystagmus

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