Entity Detail — Knowledge Graph Node
This page aggregates everything SciDEX knows about MLH1: its mechanistic relationships (Knowledge Graph edges), hypotheses targeting it, analyses mentioning it, and supporting scientific papers. The interactive graph below shows its immediate neighbors. All content is AI-synthesized from peer-reviewed literature.
MLH1 is a gene implicated in neurodegeneration research. Key relationships include: associated with, expressed in, activates. Associated with Als, Cancer, Carcinoma. Connected to 88 entities in the SciDEX knowledge graph.
| Gene Symbol | MLH1 |
| Full Name | MutL Homolog 1 |
| Chromosome | 3p22.2 |
| Function | MLH1 (MutL Homolog 1) encodes a key DNA mismatch repair (MMR) protein that is essential for maintaining genomic stability. |
| Pathways | Apoptosis, epigenetic regulation, oxidative stress response |
| UniProt ID | [P40692](https://www.uniprot.org/uniprot/P40692) |
| Ensembl ID | ENSG00000082142 |
| GeneCards | MLH1 |
| Human Protein Atlas | MLH1 |
| PMS2 Gene | MLH1 binding partner and essential MMR component |
| MSH2/MSH6 and MSH3 Genes | MutS homolog proteins recognizing initial mismatches |
| Huntington's Disease | Primary polyglutamine disease showing MLH1-dependent repeat instability |
| Lynch Syndrome | Cancer predisposition disorder from MLH1 mutations |
| DNA Mismatch Repair Pathway | Core cellular mechanism requiring MLH1 |
| Associated Diseases | Als, COLORECTAL CANCER, Cancer, Gastric Cancer |
| Interactions | CGAS, HUNTINGTIN, STING, TP53, ARID1A, APC |
| KG Connections | 141 knowledge graph edges |
| Databases | GeneCardsNCBI GeneHPASTRING |
Knowledge base pages for this entity
graph TD
MLH1["<b>MLH1</b>"]
Cancer{"Cancer"}
MLH1 -->|"expressed in"| Cancer
Tumor{"Tumor"}
MLH1 -->|"expressed in"| Tumor
Ms{"Ms"}
MLH1 -->|"expressed in"| Ms
Huntington{"Huntington"}
MLH1 -->|"activates"| Huntington
MLH1 -->|"inhibits"| Ms
MLH1 -->|"inhibits"| Cancer
MLH1 -->|"activates"| Tumor
Als{"Als"}
MLH1 -->|"therapeutic target"| Als
MLH1 -->|"therapeutic target"| Ms
MLH1 -->|"associated with"| Cancer
Carcinoma{"Carcinoma"}
MLH1 -->|"therapeutic target"| Carcinoma
Dna_Methylation(["Dna Methylation"])
MLH1 -->|"expressed in"| Dna_Methylation
MSH2["MSH2"]
MSH2 -->|"expressed in"| MLH1
PI3K["PI3K"]
PI3K -->|"expressed in"| MLH1
RB1["RB1"]
RB1 -->|"expressed in"| MLH1
MSH6["MSH6"]
MSH6 -->|"expressed in"| MLH1
GENES["GENES"]
GENES -->|"expressed in"| MLH1
DNA["DNA"]
DNA -->|"expressed in"| MLH1
ATRX["ATRX"]
ATRX -->|"expressed in"| MLH1
AKT["AKT"]
AKT -->|"expressed in"| MLH1
TP53["TP53"]
TP53 -->|"expressed in"| MLH1
STING["STING"]
STING -->|"activates"| MLH1
DNA -->|"activates"| MLH1
CGAS_STING["CGAS-STING"]
CGAS_STING -->|"activates"| MLH1
style MLH1 fill:#1a3a4a,stroke:#4fc3f7,stroke-width:3px,color:#e0e0e0| Target | Relation | Type | Str |
|---|---|---|---|
| Cancer | associated_with | disease | 0.85 |
| CANCER | associated_with | gene | 0.70 |
| Cancer | expressed_in | disease | 0.65 |
| Tumor | expressed_in | disease | 0.65 |
| Ms | expressed_in | disease | 0.65 |
| Huntington | activates | disease | 0.65 |
| Ms | inhibits | disease | 0.65 |
| Cancer | inhibits | disease | 0.65 |
| Tumor | activates | disease | 0.65 |
| Als | therapeutic_target | disease | 0.65 |
| Ms | therapeutic_target | disease | 0.65 |
| Carcinoma | therapeutic_target | disease | 0.65 |
| Colorectal Cancer | associated_with | disease | 0.65 |
| Als | associated_with | disease | 0.65 |
| Gastric Cancer | associated_with | disease | 0.65 |
| Aging | activates | disease | 0.65 |
| Tumor | biomarker_for | disease | 0.65 |
| Aging | encodes | disease | 0.65 |
| CGAS | activates | gene | 0.60 |
| MSH2 | expressed_in | gene | 0.60 |
| MSH6 | expressed_in | gene | 0.60 |
| CGAS | inhibits | gene | 0.60 |
| BRCA1 | associated_with | gene | 0.60 |
| PALB2 | associated_with | gene | 0.60 |
| ATM | associated_with | gene | 0.60 |
| BRCA2 | associated_with | gene | 0.60 |
| HUNTINGTIN | activates | gene | 0.60 |
| STING | activates | gene | 0.60 |
| AKT | expressed_in | gene | 0.60 |
| RB1 | expressed_in | gene | 0.60 |
| ATRX | expressed_in | gene | 0.60 |
| TP53 | expressed_in | gene | 0.60 |
| PI3K | expressed_in | gene | 0.60 |
| MSH6 | causes | gene | 0.60 |
| HDAC2 | associated_with | gene | 0.60 |
| PMS2 | causes | gene | 0.60 |
| BCL2 | associated_with | gene | 0.60 |
| PMS2 | associated_with | gene | 0.60 |
| CACNA1G | biomarker_for | gene | 0.60 |
| TP53 | activates | gene | 0.60 |
| NEUROG1 | biomarker_for | gene | 0.60 |
| ARID1A | activates | gene | 0.60 |
| CDKN2A | biomarker_for | gene | 0.60 |
| APC | activates | gene | 0.60 |
| Rb | activates | protein | 0.60 |
| MSH2 | interacts_with | gene | 0.60 |
| MSH3 | interacts_with | gene | 0.60 |
| MSH6 | interacts_with | gene | 0.60 |
| PMS2 | interacts_with | gene | 0.60 |
| MSH2 | associated_with | gene | 0.60 |
| Source | Relation | Type | Str |
|---|---|---|---|
| BAX | associated_with | gene | 0.70 |
| MSH2 | expressed_in | gene | 0.60 |
| PI3K | expressed_in | gene | 0.60 |
| RB1 | expressed_in | gene | 0.60 |
| MSH6 | expressed_in | gene | 0.60 |
| ATRX | expressed_in | gene | 0.60 |
| AKT | expressed_in | gene | 0.60 |
| TP53 | expressed_in | gene | 0.60 |
| STING | activates | gene | 0.60 |
| STING | inhibits | gene | 0.60 |
| CDKN2A | associated_with | gene | 0.60 |
| TP53 | associated_with | gene | 0.60 |
| BRAF | associated_with | gene | 0.60 |
| TGFBR2 | associated_with | gene | 0.60 |
| ARID1A | associated_with | gene | 0.60 |
| ACVR2A | associated_with | gene | 0.60 |
| MRE11 | associated_with | gene | 0.60 |
| MSH2 | causes | gene | 0.60 |
| MSH3 | associated_with | gene | 0.60 |
| CDKN2A | biomarker_for | gene | 0.60 |
| ARID1A | activates | gene | 0.60 |
| NEUROG1 | biomarker_for | gene | 0.60 |
| TP53 | activates | gene | 0.60 |
| APC | activates | gene | 0.60 |
| HUNTINGTIN | activates | gene | 0.60 |
| PMS2 | associated_with | gene | 0.60 |
| CACNA1G | biomarker_for | gene | 0.60 |
| CDKN2A | methylates | gene | 0.60 |
| ARID1A | encodes | gene | 0.60 |
| APC | encodes | gene | 0.60 |
| CACNA1G | methylates | gene | 0.60 |
| NEUROG1 | methylates | gene | 0.60 |
| TP53 | encodes | gene | 0.60 |
| LIG1 | interacts_with | gene | 0.60 |
| GENES | expressed_in | gene | 0.60 |
| DNA | expressed_in | gene | 0.60 |
| DNA | activates | gene | 0.60 |
| CGAS-STING | activates | gene | 0.60 |
| HUNTINGTON'S DISEASE | activates | gene | 0.60 |
| APOPTOSIS | activates | gene | 0.60 |
| CANCER | inhibits | gene | 0.60 |
| CGAS-STING | inhibits | gene | 0.60 |
| CANCER | associated_with | gene | 0.60 |
| APOPTOSIS | associated_with | gene | 0.60 |
| APOPTOSIS | therapeutic_target | gene | 0.60 |
| DNA | biomarker_for | gene | 0.60 |
| HUNTINGTON | activates | gene | 0.60 |
| AND | biomarker_for | gene | 0.60 |
| KRAS | encodes | gene | 0.60 |
| DNA | methylates | gene | 0.60 |
Hypotheses where this entity is a therapeutic target
| Hypothesis | Score | Disease | Analysis |
|---|---|---|---|
| No targeting hypotheses | |||
Scientific analyses that reference this entity
No analyses mention this entity
Scientific publications cited in analyses involving this entity
| Title & PMID | Authors | Journal | Year | Citations |
|---|---|---|---|---|
| No papers found | ||||