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:0090092 | hypogonadotropic hypogonadism 3 with or without anosmia | |
DOID:0090093 | hypogonadotropic hypogonadism 21 with or without anosmia | |
DOID:0090094 | hypogonadotropic hypogonadism 1 with or without anosmia | |
DOID:0090103 | Huntington's disease-like 1 | |
DOID:0090104 | Huntington's disease-like 2 | |
DOID:0110423 | dilated cardiomyopathy 1C | |
DOID:0110424 | dilated cardiomyopathy 1CC | |
DOID:0110426 | dilated cardiomyopathy 1D | |
DOID:0110427 | dilated cardiomyopathy 1V | |
DOID:0110428 | dilated cardiomyopathy 1AA |
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 |
---|---|---|---|
190602 | WB:WBGene00022154 | ||
102367558 | LATCH16597 | ||
321932 | ZFIN:ZDB-GENE-030131-651 | DANRE10251 | |
113571181 | ELEEL08655 | ||
106580057 | SALSA107605 | ||
106605430 | SALSA123140 | ||
115176778 | SALTR85242 | ||
115180224 | SALTR43488 | ||
115545721 | GADMO50736 | ||
101171109 | ORYLA06176 |
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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