Gene ID | Gene Symbol | Description | Source |
---|---|---|---|
10555 | AGPAT2 | 1-acylglycerol-3-phosphate O-acyltransferase 2 | |
11285 | B4GALT7 | beta-1,4-galactosyltransferase 7 | |
22845 | DOLK | dolichol kinase | |
23175 | LPIN1 | lipin 1 | |
23545 | ATP6V0A2 | ATPase H+ transporting V0 subunit a2 | |
23583 | SMUG1 | single-strand-selective monofunctional uracil-DNA glycosylase 1 | |
57104 | PNPLA2 | patatin like phospholipase domain containing 2 | |
64132 | XYLT2 | xylosyltransferase 2 |
HPO ID | HPO Term |
---|---|
HP:0001833 | Long foot |
HP:0000336 | Prominent supraorbital ridges |
HP:0005616 | Accelerated skeletal maturation |
HP:0001176 | Large hands |
HP:0010465 | Precocious puberty in females |
HP:0001397 | Hepatic steatosis |
HP:0000876 | Oligomenorrhea |
HP:0002240 | Hepatomegaly |
HP:0000141 | Amenorrhea |
HP:0001639 | Hypertrophic cardiomyopathy |
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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