GO Term | Evidence Code | PMID |
---|---|---|
nervous system development | ||
purine nucleobase metabolic process | ||
ribonucleoside monophosphate biosynthetic process | ||
hypoxanthine biosynthetic process | ||
5-phosphoribose 1-diphosphate biosynthetic process |
GO Term | Evidence Code | PMID |
---|---|---|
ribose phosphate diphosphokinase complex | ||
cytosol |
|
|
cytoplasm |
GO Term | Evidence Code | PMID |
---|---|---|
kinase activity | ||
magnesium ion binding | ||
protein homodimerization activity | ||
ATP binding | ||
protein binding |
Tissue with high expression from Human Protein Atlas. Tissues that are highly expressed are highlighted.
DO ID | Disease Name | Source |
---|---|---|
DOID:0110206 | Charcot-Marie-Tooth disease dominant intermediate F | |
DOID:0110207 | Charcot-Marie-Tooth disease X-linked dominant 6 | |
DOID:0110208 | Charcot-Marie-Tooth disease X-linked recessive 2 | |
DOID:0110209 | Charcot-Marie-Tooth disease X-linked dominant 1 | |
DOID:0110210 | Charcot-Marie-Tooth disease X-linked recessive 5 | |
DOID:0110211 | Charcot-Marie-Tooth disease X-linked recessive 3 | |
DOID:0110212 | Charcot-Marie-Tooth disease X-linked recessive 4 | |
DOID:0110734 | neurodegeneration with brain iron accumulation | |
DOID:0111260 | phosphoribosylpyrophosphate synthetase superactivity | |
DOID:0111739 | X-linked deafness 1 |
HPO ID | HPO Term |
---|---|
HP:0000028 | Cryptorchidism |
HP:0000047 | Hypospadias |
HP:0000083 | Renal insufficiency |
HP:0000154 | Wide mouth |
HP:0000218 | High palate |
HP:0000268 | Dolichocephaly |
HP:0000286 | Epicanthus |
HP:0000316 | Hypertelorism |
HP:0000325 | Triangular face |
HP:0000365 | Hearing impairment |
Disease ID | Disease Name |
---|---|
ORPHA:423479 |
|
OMIM:311070 |
|
ORPHA:411543 |
|
OMIM:301835 |
|
OMIM:304500 |
|
ORPHA:1187 |
|
ORPHA:411536 |
|
OMIM:300661 |
|
ORPHA:99014 |
|
Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
---|---|---|---|
101566211 | OCTDE20745 | ||
101588173 | OCTDE20745 | ||
100014432 | MONDO01100 | ||
102537339 | VICPA04964 | ||
102540095 | VICPA04964 | ||
105863545 | MICMU10985 | ||
105880179 | MICMU10985 | ||
105882441 | MICMU10985 | ||
101076743 | TAKRU09798 | ||
102019073 | CHILA19371 |
GlyCosmos is a member of the GlySpace Alliance together with GlyGen and Glycomics@ExPASy.
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