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| Entry | Name | Description | Category | Pathway | Gene |
|---|---|---|---|---|---|
| H00076 | Cockayne syndrome | Cockayne syndrome (CS) is a rare recessive disorder characterized by progressive multisystem abnormalities such as postnatal growth deficiency, progressive pigmentary retinopathy, sensorineural hearing ... | Neurodegenerative disease |
(CSA) ERCC8 [HSA:1161] [KO:K10570] (CSB) ERCC6 [HSA:2074] [KO:K10841] (XPB/CS) ERCC3 [HSA:2071] [KO:K10843] (XPF/CS) ERCC4 [HSA:2072] [KO:K10848] (XPG/CS) ERCC5 [HSA:2073] [KO:K10846] |
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| H00403 | Disorders of nucleotide excision repair | ... trichothiodystrophy (TTD). XP is caused by mutations in XPA, ERCC3/XPB, XPC, ERCC2/XPD, DDB2/XPE, ERCC4/XPF, ERCC5/XPG and POLH. XP is classified into eight genetic complementation groups by the present. In this ... | Congenital malformation |
(XPA) XPA [HSA:7507] [KO:K10847] (XPB/CS, TTD) ERCC3 [HSA:2071] [KO:K10843] (XPC) XPC [HSA:7508] [KO:K10838] (XPD, TTD) ERCC2 [HSA:2068] [KO:K10844] (XPE) DDB2 [HSA:1643] [KO:K10140] (XPE-2) DDB1 [HSA:1642] [KO:K10610] (XPF/CS) ERCC4 [HSA:2072] [KO:K10848] (XPG/CS, COFS3) ERCC5 [HSA:2073] [KO:K10846] (XPV) POLH [HSA:5429] [KO:K03509] (CSA) ERCC8 [HSA:1161] [KO:K10570] (CSB, DSC, UVS, COFS1) ERCC6 [HSA:2074] [KO:K10841] (TTD) GTF2H5 [HSA:404672] [KO:K10845] (COFS4) ERCC1 [HSA:2067] [KO:K10849] |
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| H01428 | Xeroderma pigmentosum | ... individuals with XP under 20 years of age is 2,000 times as high as incidence in the general population. Neurodegeneration can be correlated with mutations in specific XP genes (XPA, ERCC3, ERCC2 and ERCC5). | Congenital malformation |
(XPA) XPA [HSA:7507] [KO:K10847] (XPB) ERCC3 [HSA:2071] [KO:K10843] (XPC) XPC [HSA:7508] [KO:K10838] (XPD) ERCC2 [HSA:2068] [KO:K10844] (XPE) DDB2 [HSA:1643] [KO:K10140] (XPF) ERCC4 [HSA:2072] [KO:K10848] (XPG) ERCC5 [HSA:2073] [KO:K10846] (XPV) POLH [HSA:5429] [KO:K03509] |
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| H02570 | Cerebro-oculo-facio-skeletal syndrome | Cerebro-oculo-facio-skeletal (COFS) syndrome is a rare autosomal recessive disorder with microcephaly, severe mental retardation, and death in childhood. COFS can result from mutations in ERCC1, ERCC2, ERCC5 and ERCC6. | Congenital malformation |
(COFS1) ERCC6 [HSA:2074] [KO:K10841] (COFS2) ERCC2 [HSA:2068] [KO:K10844] (COFS3) ERCC5 [HSA:2073] [KO:K10846] (COFS4) ERCC1 [HSA:2067] [KO:K10849] |
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