Gene ID | Gene Symbol | Description | Source |
---|---|---|---|
1800 | DPEP1 | dipeptidase 1 | |
1836 | SLC26A2 | solute carrier family 26 member 2 | |
2131 | EXT1 | exostosin glycosyltransferase 1 | |
2132 | EXT2 | exostosin glycosyltransferase 2 | |
2135 | EXTL2 | exostosin like glycosyltransferase 2 | |
2137 | EXTL3 | exostosin like glycosyltransferase 3 | |
2517 | FUCA1 | alpha-L-fucosidase 1 | |
2523 | FUT1 | fucosyltransferase 1 (H blood group) | |
2588 | GALNS | galactosamine (N-acetyl)-6-sulfatase | |
2720 | GLB1 | galactosidase beta 1 |
UniProt ID | Protein Name | Source |
---|---|---|
Q12891 | Hyaluronidase-2 | |
Q16394 | Exostosin-1 | |
Q3T906 | N-acetylglucosamine-1-phosphotransferase subunits alpha/beta | |
Q68CP4 | Heparan-alpha-glucosaminide N-acetyltransferase | |
Q8NBK3 | Formylglycine-generating enzyme | |
Q93063 | Exostosin-2 | |
Q96EG1 | Arylsulfatase G | |
Q99519 | Sialidase-1 | |
Q9UBQ6 | Exostosin-like 2 | |
Q9UJJ9 | N-acetylglucosamine-1-phosphotransferase subunit gamma |
HPO ID | HPO Term |
---|---|
HP:0000007 | Autosomal recessive inheritance |
HP:0000023 | Inguinal hernia |
HP:0000154 | Wide mouth |
HP:0000158 | Macroglossia |
HP:0000179 | Thick lower lip vermilion |
HP:0000187 | Broad alveolar ridges |
HP:0000256 | Macrocephaly |
HP:0000280 | Coarse facial features |
HP:0000316 | Hypertelorism |
HP:0000365 | Hearing impairment |
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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