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:0002750 | Delayed skeletal maturation |
HP:0002757 | Recurrent fractures |
HP:0003164 | Hypothalamic gonadotropin-releasing hormone deficiency |
HP:0003187 | Breast hypoplasia |
HP:0004349 | Reduced bone mineral density |
HP:0004409 | Hyposmia |
HP:0008064 | Ichthyosis |
HP:0008734 | Decreased testicular size |
HP:0008736 | Hypoplasia of penis |
HP:0009804 | Tooth agenesis |
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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