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

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

Show/Hide Causal Diseases (3)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Colorectal cancer	Pathogenic	rs775277584	RCV001293832	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Colorectal cancer, hereditary nonpolyposis, type 7	Likely pathogenic	rs2503307220, rs2503336726, rs797045117, rs2503299745	RCV005051974 RCV005051975 RCV000190646 RCV003990454	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Endometrial carcinoma	Likely pathogenic	rs2503260477	RCV003447887	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (34)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Astrocytoma IDH-mutant	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Breast carcinoma	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Carcinoma of colon	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Conflicting classifications of pathogenicity; Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 1	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal cancer, non-polyposis	Uncertain significance; Conflicting classifications of pathogenicity; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLORECTAL NEOPLASMS	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLORECTAL NEOPLASMS, HEREDITARY NONPOLYPOSIS	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Endometrial cancer	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ENDOMETRIAL NEOPLASMS	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ESOPHAGEAL NEOPLASMS	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign; Likely benign; Uncertain significance; Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hereditary cancer	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hereditary cancer-predisposing syndrome	Benign; Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hereditary nonpolyposis colorectal neoplasms	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INTESTINAL POLYPOSIS SYNDROME	—	ClinGen, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lynch syndrome	Uncertain significance; Likely benign; Conflicting classifications of pathogenicity	ClinVar Disgenet	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Lynch syndrome 1	Conflicting classifications of pathogenicity; Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of breast	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MLH3-related disorder	Uncertain significance; Conflicting classifications of pathogenicity; Likely benign; Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neoplasm	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian cancer	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OVARIAN FAILURE, PREMATURE	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Premature ovarian failure	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign; Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Likely benign; Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (102)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Adenocarcinoma of large intestine	Colorectal Cancer	CGI_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of pancreas	Pancreatic adenocarcinoma	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Adenomatous Polyposis Coli	Multiple polyposis syndrome	BEFREE	30573798, 30862463		★★★★★ ★☆☆☆☆ Found in Text Mining only
Agnosia	Agnosia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Anxiety	Anxiety Disorder	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Attention deficit hyperactivity disorder	Attention Deficit Hyperactivity Disorder	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Attenuated familial adenomatous polyposis	Adenomatous polyposis	Pubtator	30573798	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Azoospermia	Azoospermia	BEFREE	19808033		★★★★★ ★☆☆☆☆ Found in Text Mining only
Benign neoplasm of central nervous system	Benign Neoplasm Of Nervous System	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Bladder Neoplasm	Bladder Neoplasm	BEFREE	28848075		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	19781088, 30573798		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Breast Neoplasms	Breast neoplasm	Pubtator	19781088, 20003265, 30573798, 37656691	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma of bladder	Bladder carcinoma	BEFREE	28848075		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma, Basal Cell	Carcinoma	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiac diverticulum	Cardiac Diverticulum	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cervix carcinoma	Cervix carcinoma	BEFREE	24759751		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic Neoplasms	BEFREE	30573798		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colonic Polyps	Colonic polyps	Pubtator	30573798	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal cancer, hereditary nonpolyposis, type 1	Colorectal Cancer	CLINGEN_DG	16204034, 16322221, 17203173, 18521850, 19156873, 19483466		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 7 (disorder)	Colorectal Cancer	UNIPROT_DG	11586295		★★★★★ ★☆☆☆☆ Found in Text Mining only
COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 7 (disorder)	Colorectal Cancer	CTD_human_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 7 (disorder)	Colorectal Cancer	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	10934138, 11317354, 12800209, 15193445, 16885347, 18521850, 19156873, 19949877, 29516665, 29876008, 30862463		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	CTD_human_DG	17656264		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal Neoplasms	LHGDN	12800209, 17203173, 17656264, 19156873		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal Neoplasms	Colorectal Neoplasms	CTD_human_DG	17656264		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	29516665, 31530839	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal Neoplasms Hereditary Nonpolyposis	Lynch syndrome	Pubtator	29568967, 30614234, 31297992, 35475445, 36833239	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Developmental regression	Developmental regression	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Diffuse Astrocytoma	Astrocytoma	BEFREE	26303387		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dysarthria	Dysarthria	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Dysgraphia	Dysgraphia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Dyskinetic syndrome	Dyskinetic Syndrome	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Endometrial Carcinoma	Endometrial carcinoma	BEFREE	16885347		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Endometrial Carcinoma	Endometrial carcinoma	HPO_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Endometrial Carcinoma	Endometrial carcinoma	CTD_human_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Endometrial Carcinoma	Endometrial carcinoma	CLINVAR_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Endometrial Neoplasms	Endometrial Neoplasms	CTD_human_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Esophageal carcinoma	Esophageal Carcinoma	BEFREE	16981255		★★★★★ ★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophagus Neoplasm	BEFREE	16981255		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Esophageal Neoplasms	Esophagus Neoplasm	CTD_human_DG	16981255		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Esophageal Neoplasms	Esophageal neoplasm	Pubtator	16981255	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Friedreich Ataxia	Friedreich Ataxia	BEFREE	29529236		★★★★★ ★☆☆☆☆ Found in Text Mining only
FRIEDREICH ATAXIA 1	Friedreich Ataxia	BEFREE	29529236		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	26303387		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hallucinations	Hallucinations	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hemiplegia/hemiparesis	Hemiplegia/hemiparesis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hereditary Breast and Ovarian Cancer Syndrome	Hereditary breast and ovarian cancer syndrome	Pubtator	24549055	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hereditary Non-Polyposis Colon Cancer Type 2	Colorectal Cancer	CLINGEN_DG	16204034, 16322221, 17203173, 18521850, 19156873, 19483466		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hereditary non-polyposis colorectal cancer syndrome	Hereditary nonpolyposis colorectal cancer	ORPHANET_DG	12702580		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hereditary non-polyposis colorectal cancer syndrome	Hereditary nonpolyposis colorectal cancer	CLINGEN_DG	16204034, 16322221, 17203173, 18521850, 19156873, 19483466		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hereditary Nonpolyposis Colorectal Cancer	Colorectal Cancer	BEFREE	11586295, 16136382, 16837128, 18521850, 19156873, 19466295, 26078562, 28214212, 29568967, 30614234		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hereditary Nonpolyposis Colorectal Cancer	Colorectal Cancer	ORPHANET_DG	12702580		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hereditary Nonpolyposis Colorectal Cancer	Colorectal Cancer	CTD_human_DG	12702580		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hereditary Nonpolyposis Colorectal Cancer	Colorectal Cancer	CLINGEN_DG	16204034, 16322221, 17203173, 18521850, 19156873, 19483466		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hereditary nonpolyposis colorectal carcinoma	Hereditary nonpolyposis colorectal cancer	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hereditary Nonpolyposis Colorectal Neoplasms	Colorectal Neoplasms	CTD_human_DG	12702580		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hereditary Nonpolyposis Colorectal Neoplasms	Colorectal Neoplasms	CLINGEN_DG	16204034, 16322221, 17203173, 18521850, 19156873, 19483466		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Huntington Disease	Huntington Disease	BEFREE	24204323		★★★★★ ★☆☆☆☆ Found in Text Mining only
Infertility	Infertility	Pubtator	18706547	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Infertility Male	Male infertility	Pubtator	18706547, 26520453, 28157160	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Intestinal Polyposis	Intestinal polyposis	Pubtator	30573798	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Intestinal Polyposis	Intestinal Polyposis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus Systemic	Systemic lupus erythematosus	Pubtator	27492607	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lynch Syndrome	Lynch Syndrome	CTD_human_DG	12702580		★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Lynch syndrome	Lynch Syndrome	Orphanet			★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Lynch Syndrome	Lynch Syndrome	BEFREE	16136382, 19156873, 19466295, 26078562, 28214212, 29568967, 30614234		★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Malabsorption Syndrome	Malabsorption Syndrome	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	19781088, 30573798		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of endometrium	Endometrial Cancer	BEFREE	16885347		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of esophagus	Esophagus Neoplasm	BEFREE	16981255		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of esophagus	Esophagus Neoplasm	CTD_human_DG	16981255		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	28730685		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of urinary bladder	Urinary bladder cancer	BEFREE	28848075		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	16885347, 18521850		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Marinesco-Sjogren syndrome	Marinesco-Sjogren Syndrome	BEFREE	11317354		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mesothelioma Malignant	Mesothelioma	Pubtator	34008015	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Migraine Disorders	Migraine	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Mixed Oligodendroglioma-Astrocytoma	Mixed Oligodendroglioma-Astrocytoma	BEFREE	26303387		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasm of skeletal system	Neoplasm of skeletal system	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	10934138, 16885347, 18551179, 26542077, 30573798		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	29876008		★★★★★ ★☆☆☆☆ Found in Text Mining only
Oligospermia	Oligospermia	BEFREE	19808033, 26520453		★★★★★ ★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Pituitary Adenoma	Pituitary adenoma	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Prolactinoma	Prolactinoma	BEFREE	31473917		★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	28730685		★★★★★ ★☆☆☆☆ Found in Text Mining only
Rectal Neoplasms	Rectal Neoplasms	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Thyroid Carcinoma Anaplastic	Thyroid cancer	Pubtator	25576899	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasm	Thyroid Neoplasm	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Trichohepatoenteric Syndrome	Trichohepatoenteric Syndrome	BEFREE	29234393		★★★★★ ★☆☆☆☆ Found in Text Mining only
Turcot syndrome (disorder)	Turcot syndrome	BEFREE	26542077		★★★★★ ★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	28848075	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Urologic Neoplasms	Urologic Neoplasms	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	24759751	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Uveal melanoma	Uveal melanoma	Pubtator	30107825	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

MLH3 (mutL homolog 3)