Disease Term Disease ID Gene Symbol Classification References Source
Ataxia-telangiectasia-like disorder 251347 MRE11 Causal Pathogenic evidence from ClinVar - ClinVar
ATAXIA-TELANGIECTASIA-LIKE DISORDER C1858391 MRE11 Causal Pathogenic evidence from ClinVar 10612394, 11371508, 21227757, 23080121, 23912341, 24763289, 25452441, 27329137, 29348823 ClinVar
PCNA Causal Pathogenic evidence from ClinVar - ClinVar
Ataxia-Telangiectasisa-Like Disorder 1 C4012790 MRE11 Causal Pathogenic evidence from ClinVar 2212727, 8445618, 10612394, 11371508, 14690604, 15269180, 19383352, 21227757, 22863007, 24763289, 25040471, 25503501, 28559769, 29170652 ClinVar
ATAXIA-TELANGIECTASIA-LIKE DISORDER 2 C4014676 PCNA Causal Pathogenic evidence from ClinVar 24911150 ClinVar