UniProt | Protein Name |
---|---|
P15328 |
|
GO Term | Evidence Code | PMID |
---|---|---|
regulation of canonical Wnt signaling pathway | ||
neural crest cell migration involved in heart formation | ||
sperm-egg recognition | ||
heart looping | ||
fusion of sperm to egg plasma membrane involved in single fertilization |
GO Term | Evidence Code | PMID |
---|---|---|
nucleus | ||
ER to Golgi transport vesicle membrane |
|
|
endoplasmic reticulum-Golgi intermediate compartment membrane |
|
|
endosome | ||
transport vesicle |
|
GO Term | Evidence Code | PMID |
---|---|---|
folic acid receptor activity | ||
folic acid binding | ||
signaling receptor activity | ||
protein binding |
DO ID | Disease Name | Source |
---|---|---|
DOID:0050185 | erythema multiforme | |
DOID:0050426 | Stevens-Johnson syndrome | |
DOID:0050569 | Seckel syndrome | |
DOID:0050719 | cerebral folate receptor alpha deficiency | |
DOID:0050741 | alcohol dependence | |
DOID:0050902 | medulloblastoma | |
DOID:0060041 | autism spectrum disorder | |
DOID:0060254 | Robinow syndrome | |
DOID:0060326 | myelomeningocele | |
DOID:0060578 | Noonan syndrome 1 |
HPO ID | HPO Term |
---|---|
HP:0000007 | Autosomal recessive inheritance |
HP:0001249 | Intellectual disability |
HP:0001250 | Seizure |
HP:0002180 | Neurodegeneration |
HP:0002376 | Developmental regression |
Disease ID | Disease Name |
---|---|
OMIM:613068 |
|
Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
---|---|---|---|
100689330 | CRIGR25255 | ||
14275 | MGI:95568 | MOUSE56360 | |
171049 | RGD:71032 | RATNO19865 | |
101571684 | OCTDE20160 | ||
100015543 | MONDO24248 | ||
100015612 | MONDO24248 | ||
100015645 | MONDO24248 | ||
103678021 | URSMA22163 | ||
113905541 | BOBOX34867 | ||
100944015 | OTOGA19033 |
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GlyCosmos Portal v4.0.0
Last updated: August 19, 2024