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	27030
Gene name	MutL homolog 3
Gene symbol	MLH3
Synonyms (NCBI Gene)	HNPCC7
Chromosome	14
Chromosome location	14q24.3
Summary	This gene is a member of the MutL-homolog (MLH) family of DNA mismatch repair (MMR) genes. MLH genes are implicated in maintaining genomic integrity during DNA replication and after meiotic recombination. The protein encoded by this gene functions as a he

Show/Hide all (8)

SNP ID	Visualize variation	Clinical significance	Consequence
rs28756990	C>A,T	Likely-benign, pathogenic, benign	Non coding transcript variant, genic upstream transcript variant, coding sequence variant, missense variant
rs121908439	A>G	Pathogenic, uncertain-significance	Intron variant, coding sequence variant, missense variant, stop lost, non coding transcript variant
rs587776622	C>A	Pathogenic	Coding sequence variant, genic upstream transcript variant, stop gained, non coding transcript variant
rs745657036	G>-	Likely-pathogenic	Coding sequence variant, frameshift variant, genic upstream transcript variant, non coding transcript variant
rs754716792	CT>-	Pathogenic, uncertain-significance	Genic upstream transcript variant, frameshift variant, non coding transcript variant, coding sequence variant
rs797045117	T>-	Likely-pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant, genic upstream transcript variant
rs1431264077	C>-	Pathogenic	Non coding transcript variant, genic upstream transcript variant, frameshift variant, coding sequence variant
rs1555343301	A>C,G	Likely-pathogenic	Splice donor variant

187

Show/Hide all (187)

miRTarBase ID	miRNA	Experiments	Reference
MIRT043606	hsa-miR-151a-3p	CLASH	23622248
MIRT041797	hsa-miR-484	CLASH	23622248
MIRT039929	hsa-miR-615-3p	CLASH	23622248
MIRT038410	hsa-miR-296-3p	CLASH	23622248
MIRT1151013	hsa-miR-1233	CLIP-seq
MIRT1151014	hsa-miR-1266	CLIP-seq
MIRT1151015	hsa-miR-1587	CLIP-seq
MIRT1151016	hsa-miR-27a	CLIP-seq
MIRT1151017	hsa-miR-27b	CLIP-seq
MIRT1151018	hsa-miR-3173-5p	CLIP-seq
MIRT1151019	hsa-miR-320e	CLIP-seq
MIRT1151020	hsa-miR-370	CLIP-seq
MIRT1151021	hsa-miR-378g	CLIP-seq
MIRT1151022	hsa-miR-4268	CLIP-seq
MIRT1151023	hsa-miR-4270	CLIP-seq
MIRT1151024	hsa-miR-4291	CLIP-seq
MIRT1151025	hsa-miR-4310	CLIP-seq
MIRT1151026	hsa-miR-4317	CLIP-seq
MIRT1151027	hsa-miR-4441	CLIP-seq
MIRT1151028	hsa-miR-4448	CLIP-seq
MIRT1151029	hsa-miR-4492	CLIP-seq
MIRT1151030	hsa-miR-4498	CLIP-seq
MIRT1151031	hsa-miR-4518	CLIP-seq
MIRT1151032	hsa-miR-4656	CLIP-seq
MIRT1151033	hsa-miR-4675	CLIP-seq
MIRT1151034	hsa-miR-4741	CLIP-seq
MIRT1151035	hsa-miR-4797-5p	CLIP-seq
MIRT1151036	hsa-miR-5096	CLIP-seq
MIRT1151037	hsa-miR-513a-5p	CLIP-seq
MIRT1151038	hsa-miR-626	CLIP-seq
MIRT1151039	hsa-miR-762	CLIP-seq
MIRT1151040	hsa-miR-767-3p	CLIP-seq
MIRT1151041	hsa-miR-1208	CLIP-seq
MIRT1151042	hsa-miR-134	CLIP-seq
MIRT1151043	hsa-miR-188-5p	CLIP-seq
MIRT1151044	hsa-miR-296-5p	CLIP-seq
MIRT1151045	hsa-miR-3118	CLIP-seq
MIRT1151046	hsa-miR-3120-5p	CLIP-seq
MIRT1151047	hsa-miR-3145-3p	CLIP-seq
MIRT1151048	hsa-miR-3164	CLIP-seq
MIRT1151049	hsa-miR-3185	CLIP-seq
MIRT1151050	hsa-miR-3194-3p	CLIP-seq
MIRT1151051	hsa-miR-3200-5p	CLIP-seq
MIRT1151052	hsa-miR-331-5p	CLIP-seq
MIRT1151053	hsa-miR-346	CLIP-seq
MIRT1151054	hsa-miR-3664-5p	CLIP-seq
MIRT1151055	hsa-miR-3689a-5p	CLIP-seq
MIRT1151056	hsa-miR-3689b	CLIP-seq
MIRT1151057	hsa-miR-3689e	CLIP-seq
MIRT1151058	hsa-miR-3689f	CLIP-seq
MIRT1151059	hsa-miR-4256	CLIP-seq
MIRT1151060	hsa-miR-4288	CLIP-seq
MIRT1151061	hsa-miR-4420	CLIP-seq
MIRT1151062	hsa-miR-4424	CLIP-seq
MIRT1151063	hsa-miR-4446-5p	CLIP-seq
MIRT1151064	hsa-miR-4522	CLIP-seq
MIRT1151065	hsa-miR-4659a-5p	CLIP-seq
MIRT1151066	hsa-miR-4659b-5p	CLIP-seq
MIRT1151067	hsa-miR-4661-5p	CLIP-seq
MIRT1151068	hsa-miR-4677-3p	CLIP-seq
MIRT1151069	hsa-miR-4678	CLIP-seq
MIRT1151070	hsa-miR-4679	CLIP-seq
MIRT1151071	hsa-miR-4682	CLIP-seq
MIRT1151072	hsa-miR-4727-5p	CLIP-seq
MIRT1151073	hsa-miR-4755-5p	CLIP-seq
MIRT1151074	hsa-miR-4769-3p	CLIP-seq
MIRT1151075	hsa-miR-4803	CLIP-seq
MIRT1151036	hsa-miR-5096	CLIP-seq
MIRT1151076	hsa-miR-544	CLIP-seq
MIRT1151077	hsa-miR-548ac	CLIP-seq
MIRT1151078	hsa-miR-548ae	CLIP-seq
MIRT1151079	hsa-miR-548aj	CLIP-seq
MIRT1151080	hsa-miR-548am	CLIP-seq
MIRT1151081	hsa-miR-548d-3p	CLIP-seq
MIRT1151082	hsa-miR-548x	CLIP-seq
MIRT1151083	hsa-miR-548z	CLIP-seq
MIRT1151084	hsa-miR-591	CLIP-seq
MIRT1151085	hsa-miR-614	CLIP-seq
MIRT1151086	hsa-miR-632	CLIP-seq
MIRT1151087	hsa-miR-635	CLIP-seq
MIRT1151040	hsa-miR-767-3p	CLIP-seq
MIRT2043075	hsa-miR-219-2-3p	CLIP-seq
MIRT2043076	hsa-miR-2964a-3p	CLIP-seq
MIRT2043077	hsa-miR-3646	CLIP-seq
MIRT2043078	hsa-miR-4452	CLIP-seq
MIRT2043079	hsa-miR-511	CLIP-seq
MIRT2272568	hsa-miR-1298	CLIP-seq
MIRT1151016	hsa-miR-27a	CLIP-seq
MIRT1151017	hsa-miR-27b	CLIP-seq
MIRT2272569	hsa-miR-3160-3p	CLIP-seq
MIRT2272570	hsa-miR-3914	CLIP-seq
MIRT2272571	hsa-miR-3925-3p	CLIP-seq
MIRT2272572	hsa-miR-4257	CLIP-seq
MIRT2272573	hsa-miR-4267	CLIP-seq
MIRT1151023	hsa-miR-4270	CLIP-seq
MIRT2272574	hsa-miR-4287	CLIP-seq
MIRT1151024	hsa-miR-4291	CLIP-seq
MIRT1151027	hsa-miR-4441	CLIP-seq
MIRT2272575	hsa-miR-4487	CLIP-seq
MIRT2272576	hsa-miR-4663	CLIP-seq
MIRT2272577	hsa-miR-4685-3p	CLIP-seq
MIRT1151036	hsa-miR-5096	CLIP-seq
MIRT1151037	hsa-miR-513a-5p	CLIP-seq
MIRT2272578	hsa-miR-513c	CLIP-seq
MIRT2272579	hsa-miR-514b-5p	CLIP-seq
MIRT2272580	hsa-miR-515-5p	CLIP-seq
MIRT2272581	hsa-miR-548u	CLIP-seq
MIRT2272582	hsa-miR-558	CLIP-seq
MIRT2272583	hsa-miR-600	CLIP-seq
MIRT2272584	hsa-miR-766	CLIP-seq
MIRT1151040	hsa-miR-767-3p	CLIP-seq
MIRT2454189	hsa-miR-1263	CLIP-seq
MIRT2454190	hsa-miR-138	CLIP-seq
MIRT1151015	hsa-miR-1587	CLIP-seq
MIRT2454191	hsa-miR-3127-5p	CLIP-seq
MIRT1151020	hsa-miR-370	CLIP-seq
MIRT1151021	hsa-miR-378g	CLIP-seq
MIRT2454192	hsa-miR-3918	CLIP-seq
MIRT1151029	hsa-miR-4492	CLIP-seq
MIRT1151030	hsa-miR-4498	CLIP-seq
MIRT1151032	hsa-miR-4656	CLIP-seq
MIRT1151033	hsa-miR-4675	CLIP-seq
MIRT2454193	hsa-miR-4704-3p	CLIP-seq
MIRT1151034	hsa-miR-4741	CLIP-seq
MIRT1151039	hsa-miR-762	CLIP-seq
MIRT1151013	hsa-miR-1233	CLIP-seq
MIRT2454189	hsa-miR-1263	CLIP-seq
MIRT1151014	hsa-miR-1266	CLIP-seq
MIRT2454190	hsa-miR-138	CLIP-seq
MIRT1151015	hsa-miR-1587	CLIP-seq
MIRT2454191	hsa-miR-3127-5p	CLIP-seq
MIRT2571457	hsa-miR-3152-5p	CLIP-seq
MIRT1151018	hsa-miR-3173-5p	CLIP-seq
MIRT1151019	hsa-miR-320e	CLIP-seq
MIRT1151020	hsa-miR-370	CLIP-seq
MIRT1151021	hsa-miR-378g	CLIP-seq
MIRT2454192	hsa-miR-3918	CLIP-seq
MIRT2272572	hsa-miR-4257	CLIP-seq
MIRT1151023	hsa-miR-4270	CLIP-seq
MIRT1151027	hsa-miR-4441	CLIP-seq
MIRT1151029	hsa-miR-4492	CLIP-seq
MIRT1151030	hsa-miR-4498	CLIP-seq
MIRT1151031	hsa-miR-4518	CLIP-seq
MIRT1151032	hsa-miR-4656	CLIP-seq
MIRT1151033	hsa-miR-4675	CLIP-seq
MIRT2454193	hsa-miR-4704-3p	CLIP-seq
MIRT1151034	hsa-miR-4741	CLIP-seq
MIRT2571458	hsa-miR-4774-3p	CLIP-seq
MIRT1151035	hsa-miR-4797-5p	CLIP-seq
MIRT2571459	hsa-miR-491-3p	CLIP-seq
MIRT1151038	hsa-miR-626	CLIP-seq
MIRT1151039	hsa-miR-762	CLIP-seq
MIRT1151040	hsa-miR-767-3p	CLIP-seq
MIRT2685052	hsa-miR-1207-3p	CLIP-seq
MIRT1151013	hsa-miR-1233	CLIP-seq
MIRT2454189	hsa-miR-1263	CLIP-seq
MIRT1151014	hsa-miR-1266	CLIP-seq
MIRT2454190	hsa-miR-138	CLIP-seq
MIRT1151015	hsa-miR-1587	CLIP-seq
MIRT2454191	hsa-miR-3127-5p	CLIP-seq
MIRT2272569	hsa-miR-3160-3p	CLIP-seq
MIRT1151018	hsa-miR-3173-5p	CLIP-seq
MIRT1151019	hsa-miR-320e	CLIP-seq
MIRT1151020	hsa-miR-370	CLIP-seq
MIRT1151021	hsa-miR-378g	CLIP-seq
MIRT2454192	hsa-miR-3918	CLIP-seq
MIRT2685053	hsa-miR-3974	CLIP-seq
MIRT2272572	hsa-miR-4257	CLIP-seq
MIRT2685054	hsa-miR-4263	CLIP-seq
MIRT1151023	hsa-miR-4270	CLIP-seq
MIRT1151027	hsa-miR-4441	CLIP-seq
MIRT2272575	hsa-miR-4487	CLIP-seq
MIRT1151029	hsa-miR-4492	CLIP-seq
MIRT1151030	hsa-miR-4498	CLIP-seq
MIRT1151031	hsa-miR-4518	CLIP-seq
MIRT2685055	hsa-miR-4521	CLIP-seq
MIRT1151032	hsa-miR-4656	CLIP-seq
MIRT2272576	hsa-miR-4663	CLIP-seq
MIRT1151033	hsa-miR-4675	CLIP-seq
MIRT2454193	hsa-miR-4704-3p	CLIP-seq
MIRT1151034	hsa-miR-4741	CLIP-seq
MIRT1151035	hsa-miR-4797-5p	CLIP-seq
MIRT2272582	hsa-miR-558	CLIP-seq
MIRT2685056	hsa-miR-576-5p	CLIP-seq
MIRT1151038	hsa-miR-626	CLIP-seq
MIRT1151039	hsa-miR-762	CLIP-seq
MIRT1151040	hsa-miR-767-3p	CLIP-seq

Show/Hide all (32)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000793	Component	Condensed chromosome	IEA
GO:0000794	Component	Condensed nuclear chromosome	IEA
GO:0000795	Component	Synaptonemal complex	IEA
GO:0001673	Component	Male germ cell nucleus	IEA
GO:0003682	Function	Chromatin binding	IEA
GO:0003696	Function	Satellite DNA binding	TAS	10615123
GO:0005515	Function	Protein binding	IPI	11292842, 20603073, 27229929, 32814053, 33961781
GO:0005524	Function	ATP binding	IEA
GO:0005634	Component	Nucleus	IEA
GO:0005634	Component	Nucleus	TAS	10615123
GO:0005654	Component	Nucleoplasm	IDA
GO:0005712	Component	Chiasma	IEA
GO:0006281	Process	DNA repair	IEA
GO:0006298	Process	Mismatch repair	IBA
GO:0006298	Process	Mismatch repair	IEA
GO:0006298	Process	Mismatch repair	IEA
GO:0006298	Process	Mismatch repair	NAS	12095912
GO:0006298	Process	Mismatch repair	TAS	10615123
GO:0006974	Process	DNA damage response	IEA
GO:0006974	Process	DNA damage response	IEA
GO:0007130	Process	Synaptonemal complex assembly	IEA
GO:0007131	Process	Reciprocal meiotic recombination	NAS	12095912
GO:0007140	Process	Male meiotic nuclear division	IEA
GO:0007144	Process	Female meiosis I	IEA
GO:0008104	Process	Intracellular protein localization	IEA
GO:0016887	Function	ATP hydrolysis activity	IBA
GO:0016887	Function	ATP hydrolysis activity	IEA
GO:0019237	Function	Centromeric DNA binding	IEA
GO:0030983	Function	Mismatched DNA binding	IEA
GO:0032300	Component	Mismatch repair complex	IBA
GO:0032300	Component	Mismatch repair complex	IEA
GO:0140664	Function	ATP-dependent DNA damage sensor activity	IEA

MIM	HGNC	e!Ensembl
604395	7128	ENSG00000119684

Q9UHC1

Protein name

DNA mismatch repair protein Mlh3 (MutL protein homolog 3)

Protein function

Probably involved in the repair of mismatches in DNA.

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF01119	DNA_mis_repair	211 → 349	DNA mismatch repair protein, C-terminal domain	Family
PF08676	MutL_C	1190 → 1372	MutL C terminal dimerisation domain	Domain

Tissue specificity

TISSUE SPECIFICITY: Ubiquitous.

Sequence

MIKCLSVEVQAKLRSGLAISSLGQCVEELALNSIDAEAKCVAVRVNMETFQVQVIDNGFG
MGSDDVEKVGNRYFTSKCHSVQDLENPRFYGFRGEALANIADMASAVEISSKKNRTMKTF
VKLFQSGKALKACEADVTRASAGTTVTVYNLFYQLPVRRKCMDPRLEFEKVRQRIEALSL
MHPSISFSLRNDVSGSMVLQLPKTKDVCSRFCQIYGLGKSQKLREISFKYKEFELSGYIS
SEAHYNKNMQFLFVNKRLVLRTKLHKLIDFLLRKESIICKPKNGPTSRQMNSSLRHRSTP
ELYGIYVINVQCQFCEYDVCMEPAKTLIEFQNWDTLLFCIQEGVKMFLKQEKLFVELSGE
DIKEFSEDNGFSLFDATLQKRVTSDERSNFQEACNNILDSYEMFNLQSKAVKRKTTAENV
NTQSSRDSEATRKNTNDAFLYIYESGGPGHSKMTEPSLQNKDSSCSESKMLEQETIVASE
AGENEKHKKSFLEHSSLENPCGTSLEMFLSPFQTPCHFEESGQDLEIWKESTTVNGMAAN
ILKNNRIQNQPKRFKDATEVGCQPLPFATTLWGVHSAQTEKEKKKESSNCGRRNVFSYGR
VKLCSTGFITHVVQNEKTKSTETEHSFKNYVRPGPTRAQETFGNRTRHSVETPDIKDLAS
TLSKESGQLPNKKNCRTNISYGLENEPTATYTMFSAFQEGSKKSQTDCILSDTSPSFPWY
RHVSNDSRKTDKLIGFSKPIVRKKLSLSSQLGSLEKFKRQYGKVENPLDTEVEESNGVTT
NLSLQVEPDILLKDKNRLENSDVCKITTMEHSDSDSSCQPASHILNSEKFPFSKDEDCLE
QQMPSLRESPMTLKELSLFNRKPLDLEKSSESLASKLSRLKGSERETQTMGMMSRFNELP
NSDSSRKDSKLCSVLTQDFCMLFNNKHEKTENGVIPTSDSATQDNSFNKNSKTHSNSNTT
ENCVISETPLVLPYNNSKVTGKDSDVLIRASEQQIGSLDSPSGMLMNPVEDATGDQNGIC
FQSEESKARACSETEESNTCCSDWQRHFDVALGRMVYVNKMTGLSTFIAPTEDIQAACTK
DLTTVAVDVVLENGSQYRCQPFRSDLVLPFLPRARAERTVMRQDNRDTVDDTVSSESLQS
LFSEWDNPVFARYPEVAVDVSSGQAESLAVKIHNILYPYRFTKGMIHSMQVLQQVDNKFI
ACLMSTKTEENGEAGGNLLVLVDQHAAHERIRLEQLIIDSYEKQQAQGSGRKKLLSSTLI
PPLEITVTEEQRRLLWCYHKNLEDLGLEFVFPDTSDSLVLVGKVPLCFVEREANELRRGR
STVTKSIVEEFIREQLELLQTTGGIQGTLPLTVQKVLASQACHGAIKFNDGLSLQESCRL
IEALSSCQLPFQCAHGRPSMLPLADIDHLEQEKQIKPNLTKLRKMAQAWRLFGKAECDTR
QSLQQSMPPCEPP

Sequence length

1453

Interactions

View interactions

	KEGG
	Mismatch repair

1712

Show/Hide Causal Diseases (3)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Colorectal cancer	Pathogenic	rs775277584	RCV001293832
Colorectal cancer, hereditary nonpolyposis, type 7	Likely pathogenic	rs2503307220, rs2503336726, rs797045117, rs2503299745	RCV005051974 RCV005051975 RCV000190646 RCV003990454
Endometrial carcinoma	Likely pathogenic	rs2503260477	RCV003447887

Show/Hide Unknown Diseases (27)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Astrocytoma IDH-mutant	Uncertain significance	rs751198189	RCV004776342
Breast carcinoma	Uncertain significance	rs1057518875	RCV000414927
Carcinoma of colon	Uncertain significance	rs587776622	RCV000005896
Cervical cancer	Benign; Likely benign	rs571755678	RCV005899583
Clear cell carcinoma of kidney	Conflicting classifications of pathogenicity; Benign; Likely benign	rs777308221, rs114829239	RCV005928228 RCV005895208
Colon adenocarcinoma	Benign; Likely benign	rs114829239	RCV005895207
Colorectal cancer, non-polyposis	Uncertain significance; Conflicting classifications of pathogenicity; Likely benign	rs138006166, rs377337763, rs143278116	RCV000148626 RCV000148627 RCV000148625
Endometrial cancer	Uncertain significance	rs1431264077	RCV000005904
Familial cancer of breast	Uncertain significance	rs999151231	RCV004547215
Gastric cancer	Benign; Likely benign; Uncertain significance; Conflicting classifications of pathogenicity	rs114829239, rs28757026, rs757328325, rs565238806	RCV005895210 RCV005931087 RCV005939438 RCV005907046
Hereditary cancer	Conflicting classifications of pathogenicity	rs142124529, rs148409389	RCV004701405 RCV000415369
Hereditary cancer-predisposing syndrome	Benign; Uncertain significance	rs175080, rs1158172743	RCV005425911 RCV004787123
Hereditary nonpolyposis colorectal neoplasms	Uncertain significance	rs748676497	RCV005863061
Lung cancer	Benign	rs28757026	RCV005931089
Lynch syndrome	Uncertain significance; Likely benign; Conflicting classifications of pathogenicity	rs386778871, rs886050767, rs5809689, rs886050781, rs886050773, rs142124529, rs886050770	RCV000378224 RCV000284048 RCV000381745 RCV000284853 RCV000372750 RCV000269033 RCV000311505
Lynch syndrome 1	Conflicting classifications of pathogenicity; Uncertain significance	rs61752722, rs780801367, rs61755653	RCV002463679 RCV005645180 RCV004576982
Malignant tumor of breast	Conflicting classifications of pathogenicity	rs61752722	RCV001270153
Malignant tumor of esophagus	Benign	rs28757026	RCV005931085
Melanoma	Conflicting classifications of pathogenicity	rs777308221	RCV005928229
MLH3-related disorder	Uncertain significance; Conflicting classifications of pathogenicity; Likely benign; Benign	rs781013323, rs1255282773, rs754824568, rs766230638, rs141970415, rs752980464, rs116526686, rs369525473, rs918215098, rs745988563, rs747817741, rs766537456, rs770297216, rs751375245, rs1892322400 View all (79 more)	RCV003963236 RCV005866975 RCV003908551 RCV003920935 RCV003921000 RCV003908745 RCV003900724 RCV003416375 RCV004752090 RCV003401851 RCV003401811 RCV003968661 RCV003416618 RCV003418343 RCV003416497 RCV003903562 RCV003971156 RCV004752160 RCV003968896 RCV003893200 RCV003927450 RCV003408234 RCV003960995 RCV003943355 RCV003961002 RCV003896122 RCV003961008 RCV004750735 RCV003896179 RCV004750738 RCV003971298 RCV004750745 RCV004750741 RCV003984259 RCV003896191 RCV003916472 RCV003927885 RCV003907856 RCV003919927 RCV003919926 RCV004751388 RCV003907857 RCV003396953 RCV003420648 RCV003416721 RCV003399873 RCV003397550 RCV003899188 RCV003959014 RCV004751456 RCV003972341 RCV003964759 RCV004751455 RCV003972340 RCV003418105 RCV003899929 RCV003970357 RCV003902650 RCV003925324 RCV003915315 RCV003970356 RCV003952901 RCV003952902 RCV003935563 RCV003935562 RCV003925753 RCV004751652 RCV003403508 RCV003918096 RCV003403509 RCV003953213 RCV003918095 RCV003392504 RCV003907921 RCV003965418 RCV003392524 RCV003411617 RCV003947985 RCV004751736 RCV003411763 RCV003396386 RCV004751718 RCV003938236 RCV003892808 RCV003965684 RCV004751765 RCV003892823 RCV003405269 RCV004751866 RCV003396725 RCV003413842 RCV003953584 RCV003973162 RCV003393968 RCV003405521
Neoplasm	Uncertain significance	rs751465048	RCV004673871
Ovarian cancer	Conflicting classifications of pathogenicity	rs766819210, rs1566607594, rs772010423, rs1424702720, rs1458734302, rs2503179006, rs746725349, rs762453215, rs113490514, rs1892346320	RCV003153988 RCV003154017 RCV003154248 RCV003154256 RCV003154795 RCV003154825 RCV003153910 RCV003153924 RCV003153983 RCV003153978
Premature ovarian failure	Conflicting classifications of pathogenicity	rs138974583	RCV001270225
Sarcoma	Benign; Likely benign	rs114829239, rs28757026	RCV005895209 RCV005931086
Thymoma	Benign; Conflicting classifications of pathogenicity	rs28757026, rs565238806	RCV005931088 RCV005907047
Thyroid cancer, nonmedullary, 1	Likely benign; Benign	rs762298048, rs114829239	RCV005912885 RCV005895211
Uterine corpus endometrial carcinoma	Benign; Likely benign	rs114829239	RCV005895212

Show/Hide Text Mining Associations (28)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Adenomatous Polyposis Coli	Associate	30573798
Arrest of spermatogenesis	Associate	28157160
Attenuated familial adenomatous polyposis	Associate	30573798
Breast Neoplasms	Associate	19781088, 20003265, 30573798, 37656691
Colonic Polyps	Associate	30573798
Colorectal Neoplasms	Associate	29516665, 31530839
Colorectal Neoplasms Hereditary Nonpolyposis	Associate	29568967, 30614234, 31297992, 35475445, 36833239
Esophageal Neoplasms	Associate	16981255
Friedreich Ataxia	Associate	29529236
HAIR AN syndrome	Inhibit	32197467
Hamartoma	Associate	32390703
Hereditary Breast and Ovarian Cancer Syndrome	Associate	24549055
Infertility	Associate	18706547
Infertility Male	Associate	18706547, 26520453, 28157160
Intestinal Polyposis	Associate	30573798
Lupus Erythematosus Systemic	Associate	27492607
Mesothelioma Malignant	Associate	34008015
Microsatellite Instability	Associate	10934138, 23246972, 31530839
Neoplasms	Associate	22623965, 25576899, 28848075, 30573798, 30942098, 36833239, 37086484
Neoplastic Syndromes Hereditary	Associate	10934138, 16981255
Oligospermia	Associate	26520453
Papillomavirus Infections	Associate	24759751
Peutz Jeghers Syndrome	Associate	32390703
Sertoli Cell Only Syndrome	Associate	18706547
Thyroid Carcinoma Anaplastic	Associate	25576899
Urinary Bladder Neoplasms	Associate	28848075
Uterine Cervical Neoplasms	Associate	24759751
Uveal melanoma	Associate	30107825

MLH3 (mutL homolog 3)