Version: 8.0.0
Date: Tue Jan 28 2025
2 results
Disease Disease Group: monogenic disease Genes: MRE11 (Hsa)

Lynch syndrome

Disease
Source: DOID:3883
Definition: A syndrome that is characterized by an increased risk for colon cancer and cancers of the endometrium, ovary, stomach, small intestine, hepatobiliary tract, urinary tract, brain, and skin and has_material_basis_in mutation of mismatch repair genes that increases the risk of many types of cancers.
Genes: MRE11 (Hsa)

ataxia-telangiectasia-like disorder-1

Disease
Source: DOID:0081384
Definition: An autosomal recessive cerebellar ataxia that is characterized clinically by progressive cerebellar degeneration resulting in ataxia and oculomotor apraxia and that has_material_basis_in homozygous or compound heterozygous mutation in the MRE11A gene (MRE11) on chromosome 11q21.
Genes: MRE11 (Hsa)