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:0000007 | Autosomal recessive inheritance |
HP:0000027 | Azoospermia |
HP:0000044 | Hypogonadotropic hypogonadism |
HP:0000135 | Hypogonadism |
HP:0000141 | Amenorrhea |
HP:0000789 | Infertility |
HP:0000802 | Impotence |
HP:0000819 | Diabetes mellitus |
HP:0000939 | Osteoporosis |
HP:0000953 | Hyperpigmentation of the skin |
Disease ID | Disease Name |
---|---|
ORPHA:79230 |
|
OMIM:602390 |
|
Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
---|---|---|---|
113887804 | BOBOX08249 | ||
100953790 | OTOGA08595 | ||
101079438 | TAKRU45237 | ||
102028911 | CHILA24349 | ||
110220058 | PHACI27778 | ||
101039266 | SAIBB39581 | ||
101595631 | JACJA10535 | ||
102434842 | MYOLU10075 | ||
117014695 | RHIFE26193 | ||
100220299 | TAEGU14506 |
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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