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Entry Name Description Category Pathway Gene
H00626 Focal segmental glomerulosclerosis Focal segmental glomerulosclerosis (FSGS) is one of the most common forms of glomerular disorders leading to end stage kidney disease (ESKD). FSGS is defined as a clinicopathologic syndrome manifesting ... Urinary system disease (FSGS1) ACTN4 [HSA:81] [KO:K05699]
(FSGS2) TRPC6 [HSA:7225] [KO:K04969]
(FSGS3) CD2AP [HSA:23607] [KO:K13738]
(FSGS4) APOL1 [HSA:8542] [KO:K23585]
(FSGS5) INF2 [HSA:64423]
(FSGS6) MYO1E [HSA:4643] [KO:K10356]
(FSGS7) PAX2 [HSA:5076] [KO:K15608]
(FSGS8) ANLN [HSA:54443] [KO:K18621]
(FSGS9) CRB2 [HSA:286204] [KO:K16681]
H01026 Renal coloboma syndrome
Papillorenal syndrome
... optic nerve dysplasia and oligomeganephronic renal hypodysplasia. Mutations in the paired-box gene, PAX2, have been identified in approximately half of individuals with clinical findings suggestive of ... Congenital malformation PAX2 [HSA:5076] [KO:K15608]
H01351 Spastic ataxia Spastic ataxia (SPAX) is a heterogeneous group of progressive neurodegenerative disorders, characterized by lower-limb spasticity and generalized ataxia with dysarthria, impaired ocular movements, and ... Neurodegenerative disease hsa00970 Aminoacyl-tRNA biosynthesis (SPAX1) VAMP1 [HSA:6843] [KO:K08510]
(SPAX2) KIF1C [HSA:10749] [KO:K10392]
(SPAX3/ARSAL) MARS2 [HSA:92935] [KO:K01874]
(SPAX4) MTPAP [HSA:55149] [KO:K18060]
(SPAX5) AFG3L2 [HSA:10939] [KO:K08956]
(SPAX6/ARSACS) SACS [HSA:26278] [KO:K17592]
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