GO Term | Evidence Code | PMID |
---|---|---|
transcription by RNA polymerase II | ||
cellular response to BMP stimulus | ||
BMP signaling pathway | ||
negative regulation of BMP signaling pathway | ||
positive regulation of transcription by RNA polymerase II |
GO Term | Evidence Code | PMID |
---|---|---|
cell surface | ||
HFE-transferrin receptor complex | ||
plasma membrane | ||
BMP receptor complex | ||
extracellular space |
GO Term | Evidence Code | PMID |
---|---|---|
BMP binding | ||
signaling receptor binding | ||
transferrin receptor binding | ||
coreceptor activity | ||
protein binding |
DO ID | Disease Name | Source |
---|---|---|
DOID:0050328 | congenital hypothyroidism | |
DOID:0050700 | cardiomyopathy | |
DOID:0050908 | myelodysplastic syndrome | |
DOID:0060870 | isolated growth hormone deficiency | |
DOID:0060872 | isolated growth hormone deficiency type II | |
DOID:0060873 | isolated growth hormone deficiency type IA | |
DOID:0060874 | isolated growth hormone deficiency type IB | |
DOID:0060875 | isolated growth hormone deficiency type III | |
DOID:0070122 | Meckel syndrome 8 | |
DOID:0070123 | congenital nongoitrous hypothyroidism 4 |
HPO ID | HPO Term |
---|---|
HP:0002910 | Elevated circulating hepatic transaminase concentration |
HP:0003040 | Arthropathy |
HP:0003281 | Increased circulating ferritin concentration |
HP:0003452 | Increased circulating iron concentration |
HP:0003452 | Increased serum iron |
HP:0007440 | Generalized hyperpigmentation |
HP:0011031 | Abnormality of iron homeostasis |
HP:0011462 | Young adult onset |
HP:0011675 | Arrhythmia |
HP:0012093 | Abnormality of endocrine pancreas physiology |
Disease ID | Disease Name |
---|---|
ORPHA:79230 |
|
OMIM:602390 |
|
Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
---|---|---|---|
115581123 | SPAAU13689 | ||
108699361 | Xenbase:XB-GENE-17346594 | ||
108700348 | Xenbase:XB-GENE-6486427 | ||
100493945 | Xenbase:XB-GENE-922976 | ||
101942020 | CHRPI13094 | ||
109324126 | CROPO26775 | ||
103824014 | SERCA20820 | ||
100084835 | ORNAN31528 | ||
100397472 | CALJA16527 | ||
105592867 | CERAT41266 |
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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