Gene ID | Gene Symbol | Description | Source |
---|---|---|---|
22854 | NTNG1 | netrin G1 | |
23483 | TGDS | TDP-glucose 4,6-dehydratase | |
23556 | PIGN | phosphatidylinositol glycan anchor biosynthesis class N | |
26229 | B3GAT3 | beta-1,3-glucuronyltransferase 3 | |
26275 | HIBCH | 3-hydroxyisobutyryl-CoA hydrolase | |
26503 | SLC17A5 | solute carrier family 17 member 5 | |
27255 | CNTN6 | contactin 6 | |
29925 | GMPPB | GDP-mannose pyrophosphorylase B | |
29954 | POMT2 | protein O-mannosyltransferase 2 | |
53942 | CNTN5 | contactin 5 |
HPO ID | HPO Term |
---|---|
HP:0001181 | Adducted thumb |
HP:0010864 | Intellectual disability, severe |
HP:0001257 | Spasticity |
HP:0000486 | Strabismus |
HP:0001387 | Joint stiffness |
HP:0001249 | Intellectual disability |
HP:0009600 | Thumb contracture |
HP:0000256 | Macrocephaly |
HP:0001258 | Spastic paraplegia |
HP:0001419 | X-linked recessive inheritance |
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