disease of metabolism

Summary
Synonym
  • metabolic disease
Definition
A disease that involving errors in metabolic processes of building or degradation of molecules.
Super Class
disease
Disease Ontology
DOID:0014667
Mondo Disease Ontology
MeSH
UMLS
NCI Thesaurus
MGI genotype (from TogoID)
WikiPathways (from TogoID)
Related Genes
Displaying entries 11 - 20 of 26 in total
Gene ID Gene Symbol Description Source
5161 PDHA2 pyruvate dehydrogenase E1 subunit alpha 2
5211 PFKL phosphofructokinase, liver type
5213 PFKM phosphofructokinase, muscle
5214 PFKP phosphofructokinase, platelet
5313 PKLR pyruvate kinase L/R
5315 PKM pyruvate kinase M1/2
5728 PTEN phosphatase and tensin homolog
5781 PTPN11 protein tyrosine phosphatase non-receptor type 11
6009 RHEB Ras homolog, mTORC1 binding
6720 SREBF1 sterol regulatory element binding transcription factor 1
Displaying entries 1 - 10 of 19 in total
Gene ID Gene Symbol Description Source
11555 Adrb2 adrenergic receptor, beta 2
13382 Dld dihydrolipoamide dehydrogenase
13849 Ephx1 epoxide hydrolase 1, microsomal
15481 Hspa8 heat shock protein 8
16333 Ins1 insulin I
16334 Ins2 insulin II
16828 Ldha lactate dehydrogenase A
18597 Pdha1 pyruvate dehydrogenase E1 alpha 1
18598 Pdha2 pyruvate dehydrogenase E1 alpha 2
18641 Pfkl phosphofructokinase, liver, B-type
Displaying entry 11 - 11 of 11 in total
Gene ID Gene Symbol Description Source
298942 Dld dihydrolipoamide dehydrogenase
Displaying all 5 entries
Gene ID Gene Symbol Description Source
36060 Pfk Phosphofructokinase
41549 Octbeta2R Octopamine beta2 receptor
41840 Hsc70-4 Heat shock protein 70 cognate 4
42620 PyK Pyruvate kinase
45880 Ldh Lactate dehydrogenase
Displaying 1 entry
Gene ID Gene Symbol Description Source
30262 ins preproinsulin
Displaying all 2 entries
Gene ID Gene Symbol Description Source Organism
378695 ins.L insulin L homeolog Xenopus laevis (African clawed frog)
378696 ins.S insulin S homeolog Xenopus laevis (African clawed frog)
Displaying all 2 entries
Gene ID Gene Symbol Description Source
179335 pfk-1.2 ATP-dependent 6-phosphofructokinase 2
180583 pfk-1.1 ATP-dependent 6-phosphofructokinase 1
Displaying all 4 entries
Gene ID Gene Symbol Description Source
851193 CDC19 pyruvate kinase CDC19
853155 PFK1 6-phosphofructokinase subunit alpha
854529 PYK2 pyruvate kinase PYK2
855245 PFK2 6-phosphofructokinase subunit beta

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: December 9, 2024