GO Term | Evidence Code | PMID |
---|---|---|
response to xenobiotic stimulus | ||
cardiolipin acyl-chain remodeling | ||
fatty acid beta-oxidation | ||
response to insulin |
GO Term | Evidence Code | PMID |
---|---|---|
mitochondrial inner membrane | ||
mitochondrion | ||
mitochondrial nucleoid | ||
mitochondrial fatty acid beta-oxidation multienzyme complex |
GO Term | Evidence Code | PMID |
---|---|---|
fatty-acyl-CoA binding | ||
3-hydroxyacyl-CoA dehydratase activity | ||
long-chain-3-hydroxyacyl-CoA dehydrogenase activity | ||
enoyl-CoA hydratase activity | ||
acetyl-CoA C-acetyltransferase activity |
|
Tissue with high expression from Human Protein Atlas. Tissues that are highly expressed are highlighted.
DO ID | Disease Name | Source |
---|---|---|
DOID:0060262 | gallbladder disease | |
DOID:0060574 | von Willebrand's disease 2 | |
DOID:0080108 | myoglobinuria | |
DOID:0080208 | metabolic dysfunction-associated steatotic liver disease | |
DOID:0080326 | familial hypertrophic cardiomyopathy | |
DOID:0110423 | dilated cardiomyopathy 1C | |
DOID:0110424 | dilated cardiomyopathy 1CC | |
DOID:0110426 | dilated cardiomyopathy 1D | |
DOID:0110427 | dilated cardiomyopathy 1V | |
DOID:0110428 | dilated cardiomyopathy 1AA |
HPO ID | HPO Term |
---|---|
HP:0000007 | Autosomal recessive inheritance |
HP:0000488 | Retinopathy |
HP:0000512 | Abnormal electroretinogram |
HP:0000532 | Abnormal chorioretinal morphology |
HP:0000533 | Chorioretinal atrophy |
HP:0000545 | Myopia |
HP:0000572 | Visual loss |
HP:0000577 | Exotropia |
HP:0000580 | Pigmentary retinopathy |
HP:0000613 | Photophobia |
Disease ID | Disease Name |
---|---|
OMIM:609016 |
|
ORPHA:5 |
|
OMIM:609015 |
|
ORPHA:746 |
|
Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
---|---|---|---|
101724137 | HETGA10001 | ||
101871735 | MELUD08764 | ||
100030776 | MONDO08974 | ||
103671672 | URSMA00859 | ||
114034741 | VOMUR15481 | ||
101073662 | TAKRU35530 | ||
102010469 | CHILA16759 | ||
105706957 | AOTNA41382 | ||
110206510 | PHACI17999 | ||
101604862 | JACJA15361 |
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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