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Entry | Name | Description | Category | Pathway | Gene |
---|---|---|---|---|---|
H00094 | Immunodeficiency associated with DNA repair defects | A number of genetically determined disorders collectively called as the chromosome breakage syndromes or DNA-repair disorders have a characteristic cytogenetic feature, chromosome instability. They are ... | Primary immunodeficiency |
ATM [HSA:472] [KO:K04728] MRE11A [HSA:4361] [KO:K10865] NBS1(Nibrin) [HSA:4683] [KO:K10867] LIG1 [HSA:3978] [KO:K10747] LIG4 [HSA:3981] [KO:K10777] BLM [HSA:641] [KO:K10901] MCM4 [HSA:4173] [KO:K02212] (LICS) NSMCE3 [HSA:56160] [KO:K22823] |
[ KEGG | DISEASE | DRUG | MEDICUS ] |