UniProt | Protein Name |
---|---|
P98160 |
|
GO Term | Evidence Code | PMID |
---|---|---|
response to hypoxia | ||
circulatory system development |
|
|
lipid metabolic process |
|
|
embryo implantation | ||
inflammatory response |
|
GO Term | Evidence Code | PMID |
---|---|---|
extracellular region | ||
Golgi lumen |
|
|
basement membrane |
|
|
plasma membrane |
|
|
focal adhesion |
GO Term | Evidence Code | PMID |
---|---|---|
low-density lipoprotein particle receptor binding |
|
|
amyloid-beta binding | ||
extracellular matrix structural constituent conferring compression resistance | ||
calcium ion binding | ||
protein binding |
DO ID | Disease Name | Source |
---|---|---|
DOID:0110295 | autosomal recessive limb-girdle muscular dystrophy type 2U | |
DOID:0110296 | autosomal recessive limb-girdle muscular dystrophy type 2M | |
DOID:0110297 | autosomal recessive limb-girdle muscular dystrophy type 2K | |
DOID:0110298 | autosomal recessive limb-girdle muscular dystrophy type 2N | |
DOID:0110299 | autosomal recessive limb-girdle muscular dystrophy type 2I | |
DOID:0110300 | obsolete autosomal dominant limb-girdle muscular dystrophy type 1A | |
DOID:0110301 | obsolete autosomal dominant limb-girdle muscular dystrophy type 1B | |
DOID:0110302 | obsolete autosomal dominant limb-girdle muscular dystrophy type 1C | |
DOID:0110303 | autosomal dominant limb-girdle muscular dystrophy type 1H | |
DOID:0110304 | autosomal dominant limb-girdle muscular dystrophy type 2 |
HPO ID | HPO Term |
---|---|
HP:0000007 | Autosomal recessive inheritance |
HP:0000023 | Inguinal hernia |
HP:0000028 | Cryptorchidism |
HP:0000047 | Hypospadias |
HP:0000055 | Abnormal female external genitalia morphology |
HP:0000069 | Abnormality of the ureter |
HP:0000077 | Abnormality of the kidney |
HP:0000079 | Abnormality of the urinary system |
HP:0000107 | Renal cyst |
HP:0000119 | Abnormality of the genitourinary system |
Disease ID | Disease Name |
---|---|
ORPHA:1606 |
|
ORPHA:800 |
|
ORPHA:1865 |
|
OMIM:255800 |
|
OMIM:224410 |
|
Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
---|---|---|---|
102011947 | CHILA13310 | ||
108237624 | KRYMA12539 | ||
105708530 | AOTNA06271 | ||
101035920 | SAIBB24446 | ||
111234870 | SERDU15608 | ||
101977229 | ICTTR08811 | ||
101604838 | JACJA08831 | ||
117026763 | RHIFE01766 | ||
103225428 | CHLSB09274 | ||
104663240 | RHIRO12474 |
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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