Gene ID | Gene Symbol | Description | Source |
---|---|---|---|
9487 | PIGL | phosphatidylinositol glycan anchor biosynthesis class L | |
9791 | PTDSS1 | phosphatidylserine synthase 1 | |
11253 | MAN1B1 | mannosidase alpha class 1B member 1 | |
11285 | B4GALT7 | beta-1,4-galactosyltransferase 7 | |
23545 | ATP6V0A2 | ATPase H+ transporting V0 subunit a2 | |
26229 | B3GAT3 | beta-1,3-glucuronyltransferase 3 | |
55556 | ENOSF1 | enolase superfamily member 1 | |
79644 | SRD5A3 | steroid 5 alpha-reductase 3 | |
81031 | SLC2A10 | solute carrier family 2 member 10 | |
126792 | B3GALT6 | beta-1,3-galactosyltransferase 6 |
HPO ID | HPO Term |
---|---|
HP:0005272 | Prominent nasolabial fold |
HP:0005989 | Redundant neck skin |
HP:0006891 | Thick cerebral cortex |
HP:0007392 | Excessive wrinkled skin |
HP:0007457 | Prominent veins on trunk |
HP:0007552 | Abnormal subcutaneous fat tissue distribution |
HP:0008070 | Sparse hair |
HP:0008897 | Postnatal growth retardation |
HP:0008947 | Infantile muscular hypotonia |
HP:0009125 | Lipodystrophy |
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