Gene ID | Gene Symbol | Description | Source |
---|---|---|---|
31 | ACACA | acetyl-CoA carboxylase alpha | |
142 | PARP1 | poly(ADP-ribose) polymerase 1 | |
308 | ANXA5 | annexin A5 | |
353 | APRT | adenine phosphoribosyltransferase | |
410 | ARSA | arylsulfatase A | |
416 | ARSF | arylsulfatase F | |
594 | BCKDHB | branched chain keto acid dehydrogenase E1 subunit beta | |
684 | BST2 | bone marrow stromal cell antigen 2 | |
811 | CALR | calreticulin | |
847 | CAT | catalase |
Gene ID | Gene Symbol | Description | Source |
---|---|---|---|
41126 | alpha-Man-IIa | alpha-Mannosidase class II a | |
43222 | Tl | Toll |
UniProt ID | Protein Name | Source |
---|---|---|
Q9UQ52 | Contactin-6 | |
Q9Y2V7 | Conserved oligomeric Golgi complex subunit 6 | |
Q9Y6K0 | Choline/ethanolaminephosphotransferase 1 |
HPO ID | HPO Term |
---|---|
HP:0100825 | Cheilitis |
HP:0001945 | Fever |
HP:0000992 | Cutaneous photosensitivity |
HP:0012085 | Pyuria |
HP:0000488 | Retinopathy |
HP:0003453 | Antineutrophil antibody positivity |
HP:0001824 | Weight loss |
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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