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:0110429 | dilated cardiomyopathy 1H | |
DOID:0110430 | dilated cardiomyopathy 1G | |
DOID:0110431 | dilated cardiomyopathy 1I | |
DOID:0110432 | dilated cardiomyopathy 1NN | |
DOID:0110433 | dilated cardiomyopathy 1E | |
DOID:0110434 | dilated cardiomyopathy 1Z | |
DOID:0110435 | dilated cardiomyopathy 1GG | |
DOID:0110436 | dilated cardiomyopathy 1L | |
DOID:0110437 | dilated cardiomyopathy 1K | |
DOID:0110438 | dilated cardiomyopathy 1JJ |
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 |
---|---|---|---|
109102288 | CYPCA59496 | ||
103729519 | NANGA21383 | ||
116436443 | CORMO13716 | ||
103268457 | CARSF04293 | ||
115602659 | STRHB06301 |
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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