CTGA Database Search Result

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Diseases

NameOMIM NumberRelated Gene RecordWHO-ICD ClassificationMode of Inheritance
Glycogen Storage Disease II232300Glucosidase, Alpha, AcidEndocrine, nutritional and metabolic diseasesAutosomal, Recessive
Hyperphenylalaninemia, BH4-Deficient, A261640Endocrine, nutritional and metabolic diseasesAutosomal, Recessive
Histidinemia235800Endocrine, nutritional and metabolic diseasesAutosomal, Recessive
Hyperprolinemia, Type I239500Endocrine, nutritional and metabolic diseasesAutosomal, Recessive
3-Methylglutaconic Aciduria, Type I250950AU-Specific RNA-Binding ProteinEndocrine, nutritional and metabolic diseasesAutosomal, Recessive

genes

NameOMIM NumberRelated Disease RecordNCBI Gene IDProtein NameUniprot ID
Thyroid Hormone Receptor Interactor 126045069320E3 ubiquitin-protein ligase TRIP12Q14669
Glucosidase, Alpha, Acid606800 Glycogen Storage Disease II 2548Lysosomal alpha-glucosidaseP10253
HFE Gene613609 Hepatocellular Carcinoma 3077Hereditary Hemochromatosis ProteinQ30201
Beta-1,3-N-Acetylgalactosaminyltransferase 2610194 Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11 148789UDP-GalNAc:beta-1,3-N-acetylgalactosaminyltransferase 2Q8NCR0
Solute Carrier Family 39 (Zinc Transporter), Member 14608736 Hypermanganesemia With Dystonia 2 23516Metal cation symporter ZIP14Q15043
NameOMIM NumberRelated Gene RecordWHO-ICD ClassificationMode of Inheritance
Glycogen Storage Disease II232300 Glucosidase, Alpha, AcidEndocrine, nutritional and metabolic diseasesAutosomal, Recessive
Hyperphenylalaninemia, BH4-Deficient, A261640 Endocrine, nutritional and metabolic diseasesAutosomal, Recessive
Histidinemia235800 Endocrine, nutritional and metabolic diseasesAutosomal, Recessive
Hyperprolinemia, Type I239500 Endocrine, nutritional and metabolic diseasesAutosomal, Recessive
3-Methylglutaconic Aciduria, Type I250950 AU-Specific RNA-Binding ProteinEndocrine, nutritional and metabolic diseasesAutosomal, Recessive
NameOMIM NumberRelated Disease RecordNCBI Gene IDProtein NameUniprot ID
Thyroid Hormone Receptor Interactor 12 6045069320E3 ubiquitin-protein ligase TRIP12Q14669
Glucosidase, Alpha, Acid 606800Glycogen Storage Disease II2548Lysosomal alpha-glucosidaseP10253
HFE Gene 613609Hepatocellular Carcinoma3077Hereditary Hemochromatosis ProteinQ30201
Beta-1,3-N-Acetylgalactosaminyltransferase 2 610194Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11148789UDP-GalNAc:beta-1,3-N-acetylgalactosaminyltransferase 2Q8NCR0
Solute Carrier Family 39 (Zinc Transporter), Member 14 608736Hypermanganesemia With Dystonia 223516Metal cation symporter ZIP14Q15043
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