Gene ID | Gene Symbol | Description | Source |
---|---|---|---|
2271 | FH | fumarate hydratase | |
2539 | G6PD | glucose-6-phosphate dehydrogenase | |
2990 | GUSB | glucuronidase beta | |
3417 | IDH1 | isocitrate dehydrogenase (NADP(+)) 1 | |
3418 | IDH2 | isocitrate dehydrogenase (NADP(+)) 2 | |
3897 | L1CAM | L1 cell adhesion molecule | |
3958 | LGALS3 | galectin 3 | |
4191 | MDH2 | malate dehydrogenase 2 | |
5290 | PIK3CA | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | |
5291 | PIK3CB | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta |
HPO ID | HPO Term |
---|---|
HP:0000093 | Proteinuria |
HP:0000096 | Glomerular sclerosis |
HP:0000405 | Conductive hearing impairment |
HP:0000526 | Aniridia |
HP:0000740 | Episodic paroxysmal anxiety |
HP:0000790 | Hematuria |
HP:0000980 | Pallor |
HP:0001069 | Episodic hyperhidrosis |
HP:0001095 | Hypertensive retinopathy |
HP:0001293 | Cranial nerve compression |
Gene ID | Gene Symbol | Description |
---|---|---|
1743 | DLST | dihydrolipoamide S-succinyltransferase |
2271 | FH | fumarate hydratase |
4191 | MDH2 | malate dehydrogenase 2 |
6389 | SDHA | succinate dehydrogenase complex flavoprotein subunit A |
6390 | SDHB | succinate dehydrogenase complex iron sulfur subunit B |
6391 | SDHC | succinate dehydrogenase complex subunit C |
6392 | SDHD | succinate dehydrogenase complex subunit D |
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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