Gene table of MLH1 : mutL homolog 1

Gene-disease associations table

Disease ID	Disease name	Source of annotation with MLH1	OMIM link	Number of associated genes	genes
158320	MUIR-TORRE SYNDROME	OMIM	link to OMIM	2	MLH1, MSH2
276300	MISMATCH REPAIR CANCER SYNDROME	ClinVar, OMIM, HUMSAVAR	link to OMIM	4	MLH1, MSH6, PMS2, MSH2
PS120435	COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS	ClinVar, OMIM, HUMSAVAR	link to OMIM	7	TGFBR2, MSH6, PMS2, MLH3, EPCAM, MLH1, MSH2

Associated genes in ENSEMBL

Associated proteins - SwissProt Accession ID

Associated PDB IDs

Cytogenetic Band

Tandem repeats annotation

Transcription regulation as annotated in TRRUST

Associated KEGG pathways

Associated REACTOME pathways

REACTOME pathway	REACTOME ID	REACTOME IC
Mismatch repair (MMR) directed by MSH2:MSH3 (MutSbeta)	R-HSA-5358606	9.18
DNA Repair	R-HSA-73894	5.8
Mismatch repair (MMR) directed by MSH2:MSH6 (MutSalpha)	R-HSA-5358565	9.18
Meiotic recombination	R-HSA-912446	7.25
Meiosis	R-HSA-1500620	6.59
Mismatch Repair	R-HSA-5358508	9.08
Cell Cycle	R-HSA-1640170	3.89

Associated GO terms for Molecular function

GO term	GO ID	GO IC
ATPase activity	GO:0016887	3.65
purine ribonucleoside triphosphate binding	GO:0035639	2.22
mismatched DNA binding	GO:0030983	7.25
macromolecular complex binding	GO:0044877	2.61
binding	GO:0005488	0.18
nucleic acid binding	GO:0003676	1.44
DNA binding	GO:0003677	1.92
heterocyclic compound binding	GO:1901363	1.06
nucleoside phosphate binding	GO:1901265	1.96
nucleoside binding	GO:0001882	2.21
nucleotide binding	GO:0000166	1.96
purine nucleoside binding	GO:0001883	2.22
ribonucleoside binding	GO:0032549	2.22
guanine/thymine mispair binding	GO:0032137	8.35
purine nucleotide binding	GO:0017076	2.19
double-stranded DNA binding	GO:0003690	3.09
MutSalpha complex binding	GO:0032407	8.13
single-stranded DNA binding	GO:0003697	5.17
ATP binding	GO:0005524	2.43
mismatch repair complex binding	GO:0032404	7.66
hydrolase activity	GO:0016787	1.9
nucleoside-triphosphatase activity	GO:0017111	3.09
small molecule binding	GO:0036094	1.89
catalytic activity	GO:0003824	1.05
hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides	GO:0016818	3.03
adenyl nucleotide binding	GO:0030554	2.4
carbohydrate derivative binding	GO:0097367	2.03
organic cyclic compound binding	GO:0097159	1.05
hydrolase activity, acting on acid anhydrides	GO:0016817	3.03
protein complex binding	GO:0032403	3.09
pyrophosphatase activity	GO:0016462	3.04
adenyl ribonucleotide binding	GO:0032559	2.41
protein binding	GO:0005515	0.46
purine ribonucleotide binding	GO:0032555	2.2
chromatin binding	GO:0003682	3.64
purine ribonucleoside binding	GO:0032550	2.22
ribonucleotide binding	GO:0032553	2.19