GO Term | Evidence Code | PMID |
---|---|---|
depurination | ||
negative regulation of necroptotic process | ||
DNA repair | ||
mismatch repair | ||
base-excision repair |
GO Term | Evidence Code | PMID |
---|---|---|
nucleus | ||
nucleoplasm | ||
mitochondrion |
GO Term | Evidence Code | PMID |
---|---|---|
MutLbeta complex binding | ||
8-oxo-7,8-dihydroguanine DNA N-glycosylase activity | ||
MutSbeta complex binding | ||
MutSalpha complex binding | ||
metal ion binding |
HPO ID | HPO Term |
---|---|
HP:0000007 | Autosomal recessive inheritance |
HP:0000505 | Visual impairment |
HP:0000708 | Atypical behavior |
HP:0000716 | Depression |
HP:0000737 | Irritability |
HP:0000738 | Hallucinations |
HP:0000739 | Anxiety |
HP:0001123 | Visual field defect |
HP:0001250 | Seizure |
HP:0001252 | Hypotonia |
Disease ID | Disease Name |
---|---|
OMIM:613659 |
|
OMIM:608456 |
|
ORPHA:440437 |
|
ORPHA:247798 |
|
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
This work is licensed under Creative Commons Attribution 4.0 International
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Last updated: February 17, 2025