GO Term | Evidence Code | PMID |
---|---|---|
positive regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity | ||
cell surface receptor signaling pathway | ||
cellular response to reactive oxygen species |
|
|
metanephric cortical collecting duct development | ||
cellular response to hydrostatic pressure |
GO Term | Evidence Code | PMID |
---|---|---|
Golgi apparatus | ||
polycystin complex | ||
ciliary membrane | ||
extracellular exosome | ||
basolateral plasma membrane |
GO Term | Evidence Code | PMID |
---|---|---|
cytoskeletal protein binding | ||
ATPase binding | ||
monoatomic cation channel activity | ||
calcium channel activity | ||
muscle alpha-actinin binding |
Tissue with high expression from Human Protein Atlas. Tissues that are highly expressed are highlighted.
DO ID | Disease Name | Source |
---|---|---|
DOID:0060041 | autism spectrum disorder | |
DOID:0060224 | atrial fibrillation | |
DOID:0060340 | ciliopathy | |
DOID:0070115 | Meckel syndrome 1 | |
DOID:0070116 | Meckel syndrome 2 | |
DOID:0070117 | Meckel syndrome 3 | |
DOID:0070118 | Meckel syndrome 4 | |
DOID:0070119 | Meckel syndrome 5 | |
DOID:0070120 | Meckel syndrome 6 | |
DOID:0070122 | Meckel syndrome 8 |
HPO ID | HPO Term |
---|---|
HP:0000006 | Autosomal dominant inheritance |
HP:0000010 | Recurrent urinary tract infections |
HP:0000083 | Renal insufficiency |
HP:0000105 | Enlarged kidney |
HP:0000107 | Renal cyst |
HP:0000113 | Polycystic kidney dysplasia |
HP:0000324 | Facial asymmetry |
HP:0000790 | Hematuria |
HP:0000791 | Uric acid nephrolithiasis |
HP:0000822 | Hypertension |
Disease ID | Disease Name |
---|---|
ORPHA:730 |
|
OMIM:613095 |
|
Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
---|---|---|---|
178424 | WB:WBGene00004035 | ||
34651 | FB:FBgn0041195 | ||
102353493 | LATCH05511 | ||
432387 | ZFIN:ZDB-GENE-040827-4 | DANRE17787 | |
103043751 | ASTMX17308 | ||
108262951 | ICTPU26330 | ||
113591982 | ELEEL47778 | ||
106602324 | SALSA118029 | ||
115191757 | SALTR28967 | ||
115202269 | SALTR16984 |
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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