UniProt | Protein Name |
---|---|
Q9NRR6 |
|
GO Term | Evidence Code | PMID |
---|---|---|
phosphatidylinositol dephosphorylation | ||
negative regulation of protein localization to cilium |
Tissue with high expression from Human Protein Atlas. Tissues that are highly expressed are highlighted.
DO ID | Disease Name | Source |
---|---|---|
DOID:0110130 | Bardet-Biedl syndrome 8 | |
DOID:0110131 | Bardet-Biedl syndrome 9 | |
DOID:0110132 | Bardet-Biedl syndrome 10 | |
DOID:0110133 | Bardet-Biedl syndrome 11 | |
DOID:0110134 | Bardet-Biedl syndrome 12 | |
DOID:0110135 | Bardet-Biedl syndrome 13 | |
DOID:0110136 | Bardet-Biedl syndrome 14 | |
DOID:0110137 | Bardet-Biedl syndrome 15 | |
DOID:0110138 | Bardet-Biedl syndrome 16 | |
DOID:0110139 | Bardet-Biedl syndrome 17 |
HPO ID | HPO Term |
---|---|
HP:0002896 | Neoplasm of the liver |
HP:0002910 | Elevated circulating hepatic transaminase concentration |
HP:0003312 | Abnormal form of the vertebral bodies |
HP:0003468 | Abnormal vertebral morphology |
HP:0003593 | Infantile onset |
HP:0004422 | Biparietal narrowing |
HP:0005248 | Intrahepatic biliary atresia |
HP:0007271 | Occipital myelomeningocele |
HP:0007360 | Aplasia/Hypoplasia of the cerebellum |
HP:0007370 | Aplasia/Hypoplasia of the corpus callosum |
Disease ID | Disease Name |
---|---|
ORPHA:75858 |
|
ORPHA:475 |
|
OMIM:213300 |
|
ORPHA:220493 |
|
OMIM:610156 |
|
ORPHA:1454 |
|
Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
---|---|---|---|
39404 | FB:FBgn0036273 | ||
102357566 | LATCH19413 | ||
606579 | ZFIN:ZDB-GENE-050809-23 | DANRE36968 | |
108255662 | ICTPU17312 | ||
113572910 | ELEEL12580 | ||
106580015 | SALSA72883 | ||
106585421 | SALSA89541 | ||
115164728 | SALTR60491 | ||
115199907 | SALTR21802 | ||
115548478 | GADMO56978 |
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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