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:8628 | Hodgkin's lymphoma, lymphocytic depletion | |
DOID:8651 | Hodgkin's granuloma | |
DOID:8654 | Hodgkin's lymphoma, mixed cellularity | |
DOID:8923 | skin melanoma | |
DOID:8991 | cervix uteri carcinoma in situ | |
DOID:9138 | stomach carcinoma in situ | |
DOID:9256 | colorectal cancer | |
DOID:9351 | diabetes mellitus | |
DOID:9352 | type 2 diabetes mellitus | |
DOID:9460 | uterine corpus cancer |
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 |
---|---|---|---|
118896659 | BALMU22919 | ||
100672454 | LOXAF09311 | ||
513051 | BOVIN27071 | ||
101119344 | SHEEP00254 | ||
100344165 | RABIT03973 | ||
100752384 | CRIGR03305 | ||
70603 | MGI:1917853 | MOUSE41009 | |
170841 | RGD:620045 | RATNO32646 | |
107081949 | CYPVA03758 | ||
103670779 | URSMA15009 |
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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