UniProt | Protein Name |
---|---|
P98160 |
|
GO Term | Evidence Code | PMID |
---|---|---|
negative regulation of cell population proliferation | ||
negative regulation of angiogenesis |
|
|
negative regulation of cell adhesion | ||
receptor-mediated endocytosis | ||
smoothened signaling pathway |
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:0110282 | autosomal recessive limb-girdle muscular dystrophy type 2H | |
DOID:0110283 | autosomal recessive limb-girdle muscular dystrophy type 2J | |
DOID:0110284 | autosomal recessive limb-girdle muscular dystrophy type 2L | |
DOID:0110285 | autosomal recessive limb-girdle muscular dystrophy type 2Q | |
DOID:0110286 | obsolete autosomal recessive limb-girdle muscular dystrophy type 2R | |
DOID:0110287 | autosomal recessive limb-girdle muscular dystrophy type 2S | |
DOID:0110289 | autosomal recessive limb-girdle muscular dystrophy type 2Y | |
DOID:0110292 | autosomal recessive limb-girdle muscular dystrophy type 2O | |
DOID:0110293 | autosomal recessive limb-girdle muscular dystrophy type 2P | |
DOID:0110294 | autosomal recessive limb-girdle muscular dystrophy type 2T |
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 |
---|---|---|---|
100340334 | RABIT04131 | ||
105997956 | DIPOR06164 | ||
100689041 | CRIGR11652 | ||
15530 | MGI:96257 | MOUSE41252 | |
313641 | RGD:621770 | RATNO33334 | |
100718406 | CAVPO12019 | ||
101568186 | OCTDE15733 | ||
100617792 | MONDO25064 | ||
114027391 | VOMUR26221 | ||
113879542 | BOBOX38086 |
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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