Gene ID | Gene Symbol | Description | Source |
---|---|---|---|
5293 | PIK3CD | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | |
5294 | PIK3CG | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma | |
5311 | PKD2 | polycystin 2, transient receptor potential cation channel | |
5728 | PTEN | phosphatase and tensin homolog | |
5743 | PTGS2 | prostaglandin-endoperoxide synthase 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 | |
6609 | SMPD1 | sphingomyelin phosphodiesterase 1 |
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