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 |
---|---|---|---|
102138915 | MACFA21393 | ||
698805 | MACMU21689 | ||
105479047 | MACNE25212 | ||
105550272 | MANLE33996 | ||
101132974 | GORGO18355 | ||
100993035 | PANPA02067 | ||
743630 | PANTR21839 | ||
112204055 | PANTR21839 | ||
100174250 | PONAB17383 | ||
112907776 | VULVU33332 |
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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