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:0002166 | Impaired vibration sensation in the lower limbs |
HP:0000648 | Optic atrophy |
HP:0003621 | Juvenile onset |
HP:0000007 | Autosomal recessive inheritance |
HP:0011462 | Young adult onset |
HP:0002064 | Spastic gait |
HP:0003596 | Middle age onset |
HP:0100543 | Cognitive impairment |
HP:0002174 | Postural tremor |
HP:0003676 | Progressive |
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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