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Entry | Name | Description | Category | Pathway | Gene |
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H00403 | Disorders of nucleotide excision repair | ... 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 |
(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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H01174 | Congenital diarrhea | Congenital diarrheas are a group of rare chronic enteropathies characterized by a heterogeneous etiology. In the first weeks of life, patients usually present with severe diarrhea that within a few hours ... | Digestive system disease |
(DIAR1) SLC26A3 [HSA:1811] [KO:K14078] (DIAR2/MVID1) MYO5B [HSA:4645] [KO:K10357] (DIAR3) SPINT2 [HSA:10653] [KO:K23421] (DIAR4) NEUROG3 [HSA:50674] [KO:K08028] (DIAR5) EPCAM [HSA:4072] [KO:K06737] (DIAR6) GUCY2C [HSA:2984] [KO:K12320] (DIAR7) DGAT1 [HSA:8694] [KO:K11155] (DIAR8) SLC9A3 [HSA:6550] [KO:K12040] (DIAR9) WNT2B [HSA:7482] [KO:K00182] (DIAR10) PLVAP [HSA:83483] [KO:K17309] (DIAR11) PERCC1 [HSA:105371045] (DIAR12/MVID2) STX3 [HSA:6809] [KO:K08486] (DIAR13) ACSL5 [HSA:51703] [KO:K01897] |
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H01677 | Congenital hydrocephalus | Congenital hydrocephalus (HYC) is a common birth defect in the circulation of the cerebrospinal fluid (CSF). It is characterized by ventricular dilatation. Although commonly considered a single disorder ... | Congenital malformation |
(HYC1) CCDC88C [HSA:440193] [KO:K25811] (HYC2) MPDZ [HSA:8777] [KO:K06095] (HYC3) WDR81 [HSA:124997] [KO:K17601] (HYC4/HYDCC1) TRIM71 [HSA:131405] [KO:K12035] (HYC5) SMARCC1 [HSA:6599] [KO:K11649] (HYDNP1) CFAP43 [HSA:80217] [KO:K24223] |
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H01891 | Autosomal recessive spinocerebellar ataxias | Autosomal recessive cerebellar ataxias (SCAR) are a heterogeneous group of inherited neurodegenerative disorders that affect the cerebellum, the spinocerebellar and sensory tracts of the spinal cord and ... | Neurodegenerative disease |
(SCAR1/SCAN2) SETX [HSA:23064] [KO:K10706] (SCAR2) PMPCA [HSA:23203] [KO:K01412] (SCAR4) VPS13D [HSA:55187] [KO:K19527] (SCAR7) TPP1 [HSA:1200] [KO:K01279] (SCAR8) SYNE1 [HSA:23345] [KO:K19326] (SCAR9) COQ8A [HSA:56997] [KO:K08869] (SCAR10) ANO10 [HSA:55129] [KO:K19327] (SCAR11) SYT14 [HSA:255928] [KO:K19328] (SCAR12) WWOX [HSA:51741] [KO:K19329] (SCAR13) GRM1 [HSA:2911] [KO:K04603] (SCAR14) SPTBN2 [HSA:6712] [KO:K23932] (SCAR15) RUBCN [HSA:9711] [KO:K19330] (SCAR16) STUB1 [HSA:10273] [KO:K09561] (SCAR17) CWF19L1 [HSA:55280] [KO:K24939] (SCAR18) GRID2 [HSA:2895] [KO:K05207] (SCAR19) SLC9A1 [HSA:6548] [KO:K05742] (SCAR20) SNX14 [HSA:57231] [KO:K17926] (SCAR21) SCYL1 [HSA:57410] [KO:K08876] (SCAR22) VWA3B [HSA:200403] [KO:K24509] (SCAR23) TDP2 [HSA:51567] [KO:K19619] (SCAR24) UBA5 [HSA:79876] [KO:K12164] (SCAR25) ATG5 [HSA:9474] [KO:K08339] (SCAR26) XRCC1 [HSA:7515] [KO:K10803] (SCAR27) GDAP2 [HSA:54834] [KO:K24997] (SCAR28) THG1L [HSA:54974] [KO:K10761] (SCAR29) VPS41 [HSA:27072] [KO:K20184] (SCAR30) PITRM1 [HSA:10531] [KO:K06972] (SCAR31) ATG7 [HSA:10533] [KO:K08337] (SCAR32) PRDX3 [HSA:10935] [KO:K20011] (SCAR33) RNU12 [HSA:267010] (SCAN1) TDP1 [HSA:55775] [KO:K10862] (SCAN3) COA7 [HSA:65260] [KO:K18180] |
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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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