Gene ID | Gene Symbol | Description | Source |
---|---|---|---|
2619 | GAS1 | growth arrest specific 1 | |
2710 | GK | glycerol kinase | |
2817 | GPC1 | glypican 1 | |
3293 | HSD17B3 | hydroxysteroid 17-beta dehydrogenase 3 | |
3897 | L1CAM | L1 cell adhesion molecule | |
4594 | MMUT | methylmalonyl-CoA mutase | |
4907 | NT5E | 5'-nucleotidase ecto | |
5373 | PMM2 | phosphomannomutase 2 | |
6296 | ACSM3 | acyl-CoA synthetase medium chain family member 3 | |
6646 | SOAT1 | sterol O-acyltransferase 1 |
UniProt ID | Protein Name | Source |
---|---|---|
Q8IY17 | Patatin-like phospholipase domain-containing protein 6 |
HPO ID | HPO Term |
---|---|
HP:0000786 | Primary amenorrhea |
HP:0008527 | Congenital sensorineural hearing impairment |
HP:0000118 | Phenotypic abnormality |
HP:0002750 | Delayed skeletal maturation |
HP:0000027 | Azoospermia |
HP:0005280 | Depressed nasal bridge |
HP:0000316 | Hypertelorism |
HP:0012385 | Camptodactyly |
HP:0000938 | Osteopenia |
HP:0000013 | Hypoplasia of the uterus |
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