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 |
---|---|---|
brush border membrane | ||
membrane |
|
|
apical plasma membrane | ||
extracellular exosome | ||
Golgi membrane |
|
GO Term | Evidence Code | PMID |
---|---|---|
folic acid receptor activity | ||
folic acid binding | ||
signaling receptor activity | ||
protein binding |
DO ID | Disease Name | Source |
---|---|---|
DOID:0060609 | microcephalic osteodysplastic primordial dwarfism type II | |
DOID:0060644 | chondrodysplasia-pseudohermaphroditism syndrome | |
DOID:0060764 | autosomal recessive Robinow syndrome | |
DOID:0060765 | autosomal dominant Robinow syndrome 2 | |
DOID:0060766 | autosomal dominant Robinow syndrome 1 | |
DOID:0060767 | autosomal dominant Robinow syndrome 3 | |
DOID:0080016 | spina bifida | |
DOID:10534 | stomach cancer | |
DOID:1089 | tethered spinal cord syndrome | |
DOID:1138 | spinal meningioma |
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 |
---|---|---|---|
115052942 | ECHNA06478 | ||
115053400 | ECHNA06478 | ||
105811513 | PROCO15044 | ||
109053182 | CYPCA93309 | ||
116439008 | CORMO14680 | ||
116440445 | CORMO14831 | ||
115603634 | STRHB01395 | ||
115604319 | STRHB01446 |
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Partly supported by NIH Common Fund Grant #1U01GM125267-01
GlyCosmos Portal v4.0.0
Last updated: August 19, 2024