Gene ID | Gene Symbol | Description | Source |
---|---|---|---|
4153 | MBL2 | mannose binding lectin 2 | |
4595 | MUTYH | mutY DNA glycosylase | |
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 | |
5728 | PTEN | phosphatase and tensin homolog | |
5743 | PTGS2 | prostaglandin-endoperoxide synthase 2 | |
23583 | SMUG1 | single-strand-selective monofunctional uracil-DNA glycosylase 1 |
HPO ID | HPO Term |
---|---|
HP:0001270 | Motor delay |
HP:0001290 | Generalized hypotonia |
HP:0001627 | Abnormal heart morphology |
HP:0001631 | Atrial septal defect |
HP:0001643 | Patent ductus arteriosus |
HP:0001892 | Abnormal bleeding |
HP:0001903 | Anemia |
HP:0001999 | Abnormal facial shape |
HP:0002003 | Large forehead |
HP:0002007 | Frontal bossing |
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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