GO Term | Evidence Code | PMID |
---|---|---|
mismatch repair | ||
negative regulation of necroptotic process | ||
base-excision repair | ||
DNA repair | ||
depurination |
GO Term | Evidence Code | PMID |
---|---|---|
nucleus | ||
mitochondrion | ||
nucleoplasm |
GO Term | Evidence Code | PMID |
---|---|---|
DNA N-glycosylase activity | ||
MutLbeta complex binding | ||
adenine/guanine mispair binding | ||
4 iron, 4 sulfur cluster binding | ||
MutSalpha complex binding |
DO ID | Disease Name | Source |
---|---|---|
DOID:0050424 | familial adenomatous polyposis | |
DOID:0050465 | Muir-Torre syndrome | |
DOID:0050589 | inflammatory bowel disease | |
DOID:0050638 | transthyretin amyloidosis | |
DOID:0050646 | distal arthrogryposis | |
DOID:0050657 | Bannayan-Riley-Ruvalcaba syndrome | |
DOID:0050757 | deafness-dystonia-optic neuronopathy syndrome | |
DOID:0050787 | juvenile polyposis syndrome | |
DOID:0060389 | chromosome 10q23 deletion syndrome | |
DOID:0080144 | childhood acute lymphocytic leukemia |
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 |
|
ORPHA:440437 |
|
ORPHA:247798 |
|
OMIM:608456 |
|
Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
---|---|---|---|
102691489 | LEPOC01293 | ||
558403 | ZFIN:ZDB-GENE-081104-193 | DANRE43404 | |
103025733 | ASTMX18072 | ||
108265938 | ICTPU30421 | ||
105030872 | ESOLU21580 | ||
106613534 | SALSA48310 | ||
115158002 | SALTR107515 | ||
115555295 | GADMO06975 | ||
103463609 | POERE25939 | ||
102238274 | XIPMA36402 |
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: August 19, 2024