UniProt | Protein Name |
---|---|
P15328 |
|
GO Term | Evidence Code | PMID |
---|---|---|
regulation of transforming growth factor beta receptor signaling pathway | ||
pharyngeal arch artery morphogenesis | ||
receptor-mediated endocytosis |
|
|
folic acid metabolic process | ||
folic acid transport |
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:0060580 | Noonan syndrome 2 | |
DOID:0060581 | Noonan syndrome 3 | |
DOID:0060582 | Noonan syndrome 4 | |
DOID:0060583 | Noonan syndrome 5 | |
DOID:0060584 | Noonan syndrome 6 | |
DOID:0060585 | Noonan syndrome 7 | |
DOID:0060586 | Noonan syndrome 8 | |
DOID:0060587 | Noonan syndrome 9 | |
DOID:0060588 | Noonan syndrome 10 | |
DOID:0060608 | microcephalic osteodysplastic primordial dwarfism type I |
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 |
---|---|---|---|
102026741 | CHILA03837 | ||
105720385 | AOTNA04430 | ||
110195206 | PHACI03472 | ||
110195207 | PHACI03468 | ||
101054127 | SAIBB06061 | ||
101966601 | ICTTR04851 | ||
101606915 | JACJA01920 | ||
118299701 | SCOMX22616 | ||
102417105 | MYOLU08607 | ||
117030240 | RHIFE29567 |
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GlyCosmos Portal v4.0.0
Last updated: August 19, 2024