Gene ID | Gene Symbol | Description | Source |
---|---|---|---|
4191 | MDH2 | malate dehydrogenase 2 | |
6390 | SDHB | succinate dehydrogenase complex iron sulfur subunit B | |
8630 | HSD17B6 | hydroxysteroid 17-beta dehydrogenase 6 | |
9469 | CHST3 | carbohydrate sulfotransferase 3 | |
55997 | CFC1 | cryptic, EGF-CFC family member 1 | |
146183 | OTOA | otoancorin |
UniProt ID | Protein Name | Source |
---|---|---|
P49748 | Very long-chain specific acyl-CoA dehydrogenase, mitochondrial | |
Q04760 | Lactoylglutathione lyase | |
Q7LGC8 | Carbohydrate sulfotransferase 3 | |
Q7RTW8 | Otoancorin |
HPO ID | HPO Term |
---|---|
HP:0003251 | Male infertility |
HP:0003394 | Muscle spasm |
HP:0004319 | Decreased circulating aldosterone level |
HP:0004349 | Reduced bone mineral density |
HP:0008187 | Absence of secondary sex characteristics |
HP:0008193 | Primary gonadal insufficiency |
HP:0008197 | Absence of pubertal development |
HP:0008207 | Primary adrenal insufficiency |
HP:0008214 | Decreased serum estradiol |
HP:0008232 | Elevated circulating follicle stimulating hormone level |
Gene ID | Gene Symbol | Description |
---|---|---|
1586 | CYP17A1 | cytochrome P450 family 17 subfamily A member 1 |
3284 | HSD3B2 | hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2 |
1584 | CYP11B1 | cytochrome P450 family 11 subfamily B member 1 |
1589 | CYP21A2 | cytochrome P450 family 21 subfamily A member 2 |
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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