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:0006961 | Jerky head movements |
HP:0007325 | Generalized dystonia |
HP:0007994 | Peripheral visual field loss |
HP:0010864 | Intellectual disability, severe |
HP:0011098 | Speech apraxia |
HP:0011968 | Feeding difficulties |
HP:0012043 | Pendular nystagmus |
HP:0012379 | Abnormal circulating enzyme concentration or activity |
HP:0100503 | Decreased circulating vitamin B1 concentration |
Disease ID | Disease Name |
---|---|
ORPHA:79244 |
|
OMIM:245348 |
|
Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
---|---|---|---|
114585323 | PODMU12021 | ||
107551651 | SINGR67432 | ||
106840214 | EQUAS03083 | ||
105295637 | PTEVA15831 | ||
115054040 | ECHNA44195 | ||
115395615 | SALFA25673 | ||
105822196 | PROCO03236 | ||
855653 | SGD:S000005015 | ||
103733882 | NANGA06662 | ||
116455669 | CORMO12101 |
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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