Gene ID | Gene Symbol | Description | Source |
---|---|---|---|
51302 | CYP39A1 | cytochrome P450 family 39 subfamily A member 1 | |
57704 | GBA2 | glucosylceramidase beta 2 | |
84188 | FAR1 | fatty acyl-CoA reductase 1 | |
85465 | SELENOI | selenoprotein I | |
113612 | CYP2U1 | cytochrome P450 family 2 subfamily U member 1 |
HPO ID | HPO Term |
---|---|
HP:0001761 | Pes cavus |
HP:0007340 | Lower limb muscle weakness |
HP:0002169 | Clonus |
HP:0100561 | Spinal cord lesion |
HP:0002921 | Abnormal cerebrospinal fluid morphology |
HP:0002064 | Spastic gait |
HP:0007020 | Progressive spastic paraplegia |
HP:0001258 | Spastic paraplegia |
HP:0002395 | Lower limb hyperreflexia |
HP:0000006 | Autosomal dominant inheritance |
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Supported by JST NBDC Grant Number JPMJND2204
Partly supported by NIH Common Fund Grant #1U01GM125267-01
GlyCosmos Portal v4.0.0
Last updated: August 19, 2024