Search Result |
Top |
Entry | Name | Description | Category | Pathway | Gene |
---|---|---|---|---|---|
H01220 | Congenital cataracts, facial dysmorphism, and neuropathy | ... genetically homogeneous condition in which all patients are homozygous for the same ancestral mutation in the CTDP1 gene. Affected patients display congenital cataracts, microcornea, peripheral neuropathy, mild facial ... | Congenital malformation | CTDP1 [HSA:9150] [KO:K15732] | |
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] |
|
H02348 | Dentin dysplasia | ... dysplasia is divided into two main classes based on the clinical and radiographic appearance, type I (DD1/DTDP1) and type II (DD2/DTDP2). Type 1 is referred to as radicular dentin dysplasia and type 2 as coronal ... | Congenital malformation |
(DTDP1) SMOC2 [HSA:64094] [KO:K24354] (DTDP2) DSPP [HSA:1834] [KO:K23573] |
|
H02573 | Autosomal recessive spinocerebellar ataxias with axonal neuropathy | Autosomal recessive spinocerebellar ataxias with axonal neuropathy (SCAN) is a heterogeneous group of inherited neurodegenerative disorders characterized by ataxia, cerebellar atrophy, and polyneuropathy | Neurodegenerative disease |
(SCAN1) TDP1 [HSA:55775] [KO:K10862] (SCAN2) SETX [HSA:23064] [KO:K10706] (SCAN3) COA7 [HSA:65260] [KO:K18180] |
[ KEGG | DISEASE | DRUG | MEDICUS ] |