Gene ID | Gene Symbol | Description | Source |
---|---|---|---|
8879 | SGPL1 | sphingosine-1-phosphate lyase 1 | |
9526 | MPDU1 | mannose-P-dolichol utilization defect 1 | |
9663 | LPIN2 | lipin 2 | |
10682 | EBP | EBP cholestenol delta-isomerase | |
10908 | PNPLA6 | patatin like phospholipase domain containing 6 | |
57104 | PNPLA2 | patatin like phospholipase domain containing 2 | |
91949 | COG7 | component of oligomeric golgi complex 7 | |
204219 | CERS3 | ceramide synthase 3 |
HPO ID | HPO Term |
---|---|
HP:0001597 | Abnormality of the nail |
HP:0001944 | Dehydration |
HP:0002205 | Recurrent respiratory infections |
HP:0004322 | Short stature |
HP:0008064 | Ichthyosis |
HP:0008070 | Sparse hair |
HP:0011039 | Abnormal helix morphology |
HP:0100543 | Cognitive impairment |
HP:0100679 | Lack of skin elasticity |
HP:0100758 | Gangrene |
GlyCosmos is a member of the GlySpace Alliance together with GlyGen and Glycomics@ExPASy.
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