Gene ID | Gene Symbol | Description | Source |
---|---|---|---|
2220 | FCN2 | ficolin 2 | |
2350 | FOLR2 | folate receptor beta | |
2639 | GCDH | glutaryl-CoA dehydrogenase | |
5290 | PIK3CA | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | |
5291 | PIK3CB | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta | |
5293 | PIK3CD | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | |
5294 | PIK3CG | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma | |
23583 | SMUG1 | single-strand-selective monofunctional uracil-DNA glycosylase 1 | |
54657 | UGT1A4 | UDP glucuronosyltransferase family 1 member A4 | |
200576 | PIKFYVE | phosphoinositide kinase, FYVE-type zinc finger containing |
HPO ID | HPO Term |
---|---|
HP:0000613 | Photophobia |
HP:0000006 | Autosomal dominant inheritance |
HP:0007962 | Speckled corneal dystrophy |
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Supported by JST NBDC Grant Number JPMJND2204
Partly supported by NIH Common Fund Grant #1U01GM125267-01
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Last updated: August 19, 2024