Gene ID | Gene Symbol | Description | Source |
---|---|---|---|
178 | AGL | amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase | |
523 | ATP6V1A | ATPase H+ transporting V1 subunit A | |
952 | CD38 | CD38 molecule | |
1650 | DDOST | dolichyl-diphosphooligosaccharide--protein glycosyltransferase non-catalytic subunit | |
2218 | FKTN | fukutin | |
2517 | FUCA1 | alpha-L-fucosidase 1 | |
2719 | GPC3 | glypican 3 | |
4023 | LPL | lipoprotein lipase | |
5105 | PCK1 | phosphoenolpyruvate carboxykinase 1 | |
5130 | PCYT1A | phosphate cytidylyltransferase 1A, choline |
UniProt ID | Protein Name | Source |
---|---|---|
Q9Y487 | V-type proton ATPase 116 kDa subunit a 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