Gene ID | Gene Symbol | Description | Source |
---|---|---|---|
410 | ARSA | arylsulfatase A | |
427 | ASAH1 | N-acylsphingosine amidohydrolase 1 | |
1118 | CHIT1 | chitinase 1 | |
2581 | GALC | galactosylceramidase | |
2720 | GLB1 | galactosidase beta 1 | |
3425 | IDUA | alpha-L-iduronidase | |
3482 | IGF2R | insulin like growth factor 2 receptor | |
5319 | PLA2G1B | phospholipase A2 group IB | |
5660 | PSAP | prosaposin | |
8560 | DEGS1 | delta 4-desaturase, sphingolipid 1 |
UniProt ID | Protein Name | Source |
---|---|---|
Q6P1J6 | Phospholipase B1, membrane-associated |
HPO ID | HPO Term |
---|---|
HP:0100639 | Erectile dysfunction |
HP:0100963 | Hyperesthesia |
HP:0002191 | Progressive spasticity |
HP:0001954 | Recurrent fever |
HP:0000238 | Hydrocephalus |
HP:0007928 | Abnormal flash visual evoked potentials |
HP:0001276 | Hypertonia |
HP:0011463 | Childhood onset |
HP:0003593 | Infantile onset |
HP:0000007 | Autosomal recessive 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