Gene ID | Gene Symbol | Description | Source |
---|---|---|---|
412 | STS | steroid sulfatase | |
1718 | DHCR24 | 24-dehydrocholesterol reductase | |
2222 | FDFT1 | farnesyl-diphosphate farnesyltransferase 1 | |
8443 | GNPAT | glyceronephosphate O-acyltransferase | |
10682 | EBP | EBP cholestenol delta-isomerase | |
50814 | NSDHL | NAD(P) dependent steroid dehydrogenase-like |
UniProt ID | Protein Name | Source |
---|---|---|
O15228 | Dihydroxyacetone phosphate acyltransferase | |
P08842 | Steryl-sulfatase | |
P37268 | Squalene synthase | |
Q15125 | 3-beta-hydroxysteroid-Delta(8),Delta(7)-isomerase | |
Q15392 | Delta(24)-sterol reductase | |
Q15738 | Sterol-4-alpha-carboxylate 3-dehydrogenase, decarboxylating |
HPO ID | HPO Term |
---|---|
HP:0000126 | Hydronephrosis |
HP:0000218 | High palate |
HP:0000316 | Hypertelorism |
HP:0000324 | Facial asymmetry |
HP:0000369 | Low-set ears |
HP:0000377 | Abnormal pinna morphology |
HP:0000407 | Sensorineural hearing impairment |
HP:0000482 | Microcornea |
HP:0000494 | Downslanted palpebral fissures |
HP:0000518 | Cataract |
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