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| Entry | Name | Description | Category | Pathway | Gene |
|---|---|---|---|---|---|
| H00031 | Breast cancer | ... positive), and hormone receptor negative and HER2 negative (basal-like or triple-negative breast cancers (TNBCs)). Hormone receptor positive breast cancers are largely driven by the estrogen/ER pathway. In HER2 ... | Cancer | hsa05224 Breast cancer |
BRCA1 (germline mutation, hypermethylation) [HSA:672] [KO:K10605] BRCA2 [HSA:675] [KO:K08775] BARD1 [HSA:580] [KO:K10683] BRIP1 [HSA:83990] [KO:K15362] PALB2 [HSA:79728] [KO:K10897] RAD51 [HSA:5888] [KO:K04482] RAD54L [HSA:8438] [KO:K10875] XRCC3 [HSA:7517] [KO:K10880] ERBB2/HER2 (overexpression) [HSA:2064] [KO:K05083] ESR1/ER1 [HSA:2099] [KO:K08550] PGR [HSA:5241] [KO:K08556] GATA3 [HSA:2625] [KO:K17895] PIK3CA [HSA:5290] [KO:K00922] TP53 [HSA:7157] [KO:K04451] PPM1D [HSA:8493] [KO:K10147] RB1CC1 [HSA:9821] [KO:K17589] HMMR [HSA:3161] [KO:K06267] NQO2 [HSA:4835] [KO:K08071] SLC22A18 [HSA:5002] [KO:K08214] PTEN [HSA:5728] [KO:K01110] EGFR (overexpression) [HSA:1956] [KO:K04361] KIT (overexpression) [HSA:3815] [KO:K05091] NOTCH1 (overexpression) [HSA:4851] [KO:K02599] NOTCH4 (overexpression) [HSA:4855] [KO:K20996] FZD7 (overexpression) [HSA:8324] [KO:K02432] LRP6 (overexpression) [HSA:4040] [KO:K03068] FGFR1 (amplification) [HSA:2260] [KO:K04362] CCND1 (amplification) [HSA:595] [KO:K04503] |
| H00429 | Proximal renal tubular acidosis (RTA type 2) | ... bicarbonate reabsorption in the proximal tubules, resulting in low renal bicarbonate threshold. Mutations in the gene SLC4A4, encoding Na+-HCO3- cotransporter (NBC-1), have been found in proximal RTA. | Urinary system disease | SLC4A4 [HSA:8671] [KO:K13575] | |
| H00734 | Autosomal recessive congenital ichthyosis | ... are defined including lamellar ichthyosis (LI) and non-bullous congenital ichthyosiform erythroderma (NBCIE). LI shows more severe phonotype with tight covering of a newborn that is later replaced by large ... | Congenital malformation |
(ARCI1/ LI1) TGM1 [HSA:7051] [KO:K05619] (ARCI2/ NBCIE) ALOX12B [HSA:242] [KO:K08021] (ARCI3/ LI5) ALOXE3 [HSA:59344] [KO:K18684] (ARCI4/ LI2) ABCA12 [HSA:26154] [KO:K05646] (ARCI5/ LI3) CYP4F22 [HSA:126410] [KO:K17731] (ARCI6) NIPAL4 [HSA:348938] [KO:K22733] (ARCI8/ LI4) LIPN [HSA:643418] [KO:K24210] (ARCI9) CERS3 [HSA:204219] [KO:K24622] (ARCI10) PNPLA1 [HSA:285848] [KO:K16813] (ARCI11) ST14 [HSA:6768] [KO:K08670] (ARCI12) CASP14 [HSA:23581] [KO:K04401] (ARCI13) SDR9C7 [HSA:121214] [KO:K24425] (ARCI14) SULT2B1 [HSA:6820] [KO:K01015] |
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