GO Term | Evidence Code | PMID |
---|---|---|
glucose metabolic process | ||
acetyl-CoA biosynthetic process from pyruvate | ||
tricarboxylic acid cycle |
GO Term | Evidence Code | PMID |
---|---|---|
intracellular membrane-bounded organelle | ||
mitochondrial pyruvate dehydrogenase complex |
|
|
pyruvate dehydrogenase complex | ||
mitochondrial matrix | ||
mitochondrion |
GO Term | Evidence Code | PMID |
---|---|---|
dihydrolipoyllysine-residue acetyltransferase activity | ||
pyruvate dehydrogenase (NAD+) activity | ||
protein binding | ||
identical protein binding |
Tissue with high expression from Human Protein Atlas. Tissues that are highly expressed are highlighted.
DO ID | Disease Name | Source |
---|---|---|
DOID:0110744 | type 1 diabetes mellitus 5 | |
DOID:0110745 | type 1 diabetes mellitus 6 | |
DOID:0110746 | type 1 diabetes mellitus 7 | |
DOID:0110747 | type 1 diabetes mellitus 8 | |
DOID:0110748 | obsolete type 1 diabetes mellitus 9 | |
DOID:0110749 | type 1 diabetes mellitus 10 | |
DOID:0110750 | type 1 diabetes mellitus 11 | |
DOID:0110751 | type 1 diabetes mellitus 12 | |
DOID:0110752 | type 1 diabetes mellitus 13 | |
DOID:0110753 | type 1 diabetes mellitus 15 |
HPO ID | HPO Term |
---|---|
HP:0000007 | Autosomal recessive inheritance |
HP:0000252 | Microcephaly |
HP:0000486 | Strabismus |
HP:0000496 | Abnormality of eye movement |
HP:0000508 | Ptosis |
HP:0000546 | Retinal degeneration |
HP:0000639 | Nystagmus |
HP:0000657 | Oculomotor apraxia |
HP:0000707 | Abnormality of the nervous system |
HP:0000708 | Atypical behavior |
Disease ID | Disease Name |
---|---|
ORPHA:79244 |
|
OMIM:245348 |
|
Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
---|---|---|---|
549074 | Xenbase:XB-GENE-982534 | ||
101941556 | CHRPI18059 | ||
109318080 | CROPO23367 | ||
100549645 | MELGA08147 | ||
100078104 | ORNAN03269 | ||
100412039 | CALJA04831 | ||
102131289 | MACFA10342 | ||
710930 | MACMU10947 | ||
101010313 | PAPAN07312 | ||
101137170 | GORGO02579 |
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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