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Every result shows the extracted entities next to the sentences that support them; rows for the searched entities come first.
Transparent by designEvery result links extracted entities to its source sentence and publication identifier.
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MSH6 and obesity are reported together in 1 article.
Gene
MSH6
- HGNC
- HGNC:7329
20articles
20mentions
0variants with confirmed gene link
Most co-reported phenotypes (articles)
Phenotype
Obesity
- HPO
- HP:0001513
856articles
856mentions
12co-reported genes shown
Most co-reported genes (articles)
Counts are literature co-mentions in SaudiVarKB, not clinical or causal assertions. Gene details: HGNC; variant status: ClinVar via dbSNP.
Publications
1 records shown · first 60Constitutional Mismatch Repair Deficiency Syndromes, a Neurofibromatosis 1 Mimicker That Hinders Timely Management.
PMID 36897649 | DOI 10.1097/MPH.0000000000002641 · Journal of pediatric hematology/oncology · 2023 · 5 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | MSH6 | “BACKGROUND: Constitutional mismatch repair deficiency (CMMRD) is a rare, autosomal recessive disease caused by a biallelic germline mutation in one of the DNA mismatch repair genes ( MLH1 , MSH2 , MSH6 and PMS2 ).” | 0.98 | hgnc_dict_v1 |
| phenotype | obesity | “In our cohort, multiple Mongolian spots, coloboma, obesity, CHD, dysmorphism, and clubfoot were also encountered.” | 0.98 | phenotype_alias_lexicon_v2 |
| gene | MLH1 | “BACKGROUND: Constitutional mismatch repair deficiency (CMMRD) is a rare, autosomal recessive disease caused by a biallelic germline mutation in one of the DNA mismatch repair genes ( MLH1 , MSH2 , MSH6 and PMS2 ).” | 0.98 | hgnc_dict_v1 |
| gene | MSH2 | “BACKGROUND: Constitutional mismatch repair deficiency (CMMRD) is a rare, autosomal recessive disease caused by a biallelic germline mutation in one of the DNA mismatch repair genes ( MLH1 , MSH2 , MSH6 and PMS2 ).” | 0.98 | hgnc_dict_v1 |