Gene ID | Gene Symbol | Description | Source |
---|---|---|---|
175 | AGA | aspartylglucosaminidase | |
176 | ACAN | aggrecan | |
353 | APRT | adenine phosphoribosyltransferase | |
410 | ARSA | arylsulfatase A | |
411 | ARSB | arylsulfatase B | |
821 | CANX | calnexin | |
847 | CAT | catalase | |
912 | CD1D | CD1d molecule | |
952 | CD38 | CD38 molecule | |
1800 | DPEP1 | dipeptidase 1 |
UniProt ID | Protein Name | Source |
---|---|---|
Q3T906 | N-acetylglucosamine-1-phosphotransferase subunits alpha/beta | |
Q68CP4 | Heparan-alpha-glucosaminide N-acetyltransferase | |
Q8NBK3 | Formylglycine-generating enzyme | |
Q96EG1 | Arylsulfatase G | |
Q99519 | Sialidase-1 | |
Q9UBQ6 | Exostosin-like 2 | |
Q9UJJ9 | N-acetylglucosamine-1-phosphotransferase subunit gamma |
HPO ID | HPO Term |
---|---|
HP:0001641 | Abnormal pulmonary valve morphology |
HP:0001654 | Abnormal heart valve morphology |
HP:0001679 | Abnormal aortic morphology |
HP:0001702 | Abnormal tricuspid valve morphology |
HP:0001744 | Splenomegaly |
HP:0002028 | Chronic diarrhea |
HP:0002091 | Restrictive ventilatory defect |
HP:0002159 | Heparan sulfate excretion in urine |
HP:0002176 | Spinal cord compression |
HP:0002360 | Sleep abnormality |
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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