Gene ID | Gene Symbol | Description | Source |
---|---|---|---|
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 | |
8482 | SEMA7A | semaphorin 7A (JohnMiltonHagen blood group) | |
9394 | HS6ST1 | heparan sulfate 6-O-sulfotransferase 1 | |
10908 | PNPLA6 | patatin like phospholipase domain containing 6 |
UniProt ID | Protein Name | Source |
---|---|---|
P22033 | Methylmalonyl-CoA mutase, mitochondrial | |
P32004 | Neural cell adhesion molecule L1 | |
P32189 | Glycerol kinase | |
P35052 | Glypican-1 | |
P35610 | Sterol O-acyltransferase 1 | |
P54826 | Growth arrest-specific protein 1 | |
Q6ZVN8 | Hemojuvelin | |
Q8IY17 | Patatin-like phospholipase domain-containing protein 6 |
HPO ID | HPO Term |
---|---|
HP:0000028 | Cryptorchidism |
HP:0006610 | Wide intermamillary distance |
HP:0000716 | Depression |
HP:0008724 | Hypoplasia of the ovary |
HP:0000802 | Impotence |
HP:0000134 | Female hypogonadism |
HP:0002761 | Generalized joint hypermobility |
HP:0011961 | Non-obstructive azoospermia |
HP:0000771 | Gynecomastia |
HP:0008197 | Absence of pubertal development |
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