UniProt | Protein Name |
---|---|
O75787 |
|
GO Term | Evidence Code | PMID |
---|---|---|
endosomal lumen acidification |
|
GO Term | Evidence Code | PMID |
---|---|---|
autophagosome membrane | ||
clathrin-coated vesicle membrane | ||
vacuolar proton-transporting V-type ATPase, V0 domain | ||
external side of plasma membrane | ||
axon |
GO Term | Evidence Code | PMID |
---|---|---|
signaling receptor activity | ||
protein binding |
DO ID | Disease Name | Source |
---|---|---|
DOID:0060806 | syndromic X-linked intellectual disability Hedera type | |
DOID:0060891 | Parkinson's disease 19A | |
DOID:0060895 | Parkinson's disease 4 | |
DOID:0060896 | Parkinson's disease 23 | |
DOID:0080199 | colorectal carcinoma | |
DOID:0080205 | CAKUT | |
DOID:0080334 | aortic valve disease 2 | |
DOID:0110425 | dilated cardiomyopathy 1A | |
DOID:0112105 | X-linked parkinsonism-spasticity syndrome | |
DOID:10283 | prostate cancer |
HPO ID | HPO Term |
---|---|
HP:0000047 | Hypospadias |
HP:0000298 | Mask-like facies |
HP:0000338 | Hypomimic face |
HP:0000341 | Narrow forehead |
HP:0000347 | Micrognathia |
HP:0000369 | Low-set ears |
HP:0000750 | Delayed speech and language development |
HP:0000952 | Jaundice |
HP:0000973 | Cutis laxa |
HP:0001249 | Intellectual disability |
Disease ID | Disease Name |
---|---|
ORPHA:363654 |
|
OMIM:300911 |
|
OMIM:301045 |
|
OMIM:300423 |
|
ORPHA:93952 |
|
Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
---|---|---|---|
101584246 | OCTDE24170 | ||
101870617 | MELUD03323 | ||
100028265 | MONDO20912 | ||
100560966 | ANOCA04777 | ||
114052850 | VOMUR15820 | ||
113887062 | BOBOX23670 | ||
100957573 | OTOGA03500 | ||
102005522 | CHILA24245 | ||
105714225 | AOTNA17454 | ||
110194635 | PHACI28688 |
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Partly supported by NIH Common Fund Grant #1U01GM125267-01
GlyCosmos Portal v4.0.0
Last updated: August 19, 2024