Gene ID | Gene Symbol | Description | Source |
---|---|---|---|
10554 | AGPAT1 | 1-acylglycerol-3-phosphate O-acyltransferase 1 | |
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:0001544 | Prominent umbilicus |
HP:0000065 | Labial hypertrophy |
HP:0003758 | Reduced subcutaneous adipose tissue |
HP:0001007 | Hirsutism |
HP:0003292 | Decreased serum leptin |
HP:0000325 | Triangular face |
HP:0001735 | Acute pancreatitis |
HP:0000007 | Autosomal recessive inheritance |
HP:0003716 | Generalized muscular appearance from birth |
HP:0002910 | Elevated circulating hepatic transaminase concentration |
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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