CTGA Database Search Result

Total of 2481 Records Found.
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NameOMIM NumberRelated Gene RecordWHO-ICD ClassificationMode of Inheritance
Congenital Disorder of Glycosylation, Type IIc266265 Solute Carrier Family 35, Member C1Endocrine, nutritional and metabolic diseasesAutosomal, Recessive
Deafness, Autosomal Recessive 70, with or without Adult-Onset Neurodegeneration614934 Polyribonucleotide Nucleotidyltransferase 1Diseases of the ear and mastoid processAutosomal, Recessive
SLC22A4-associated Hearing Impairment Solute Carrier Family 22 (Organic Cation Transporter), Member 4Diseases of the ear and mastoid processAutosomal, Recessive
Spinal Muscular Atrophy, Lower Extremity-Predominant, 1, Autosomal Dominant158600 Dynein, Cytoplasmic 1, Heavy Chain 1Diseases of the nervous systemAutosomal, Dominant
Epilepsy, Progressive Myoclonic, 3, with or without Intracellular Inclusions611726 Potassium Channel Tetramerization Domain-Containing Protein 7Diseases of the nervous systemAutosomal, Recessive
NameOMIM NumberRelated Disease RecordNCBI Gene IDProtein NameUniprot ID
Polyribonucleotide Nucleotidyltransferase 1 610316Deafness, Autosomal Recessive 70, with or without Adult-Onset Neurodegeneration87178Polyribonucleotide nucleotidyltransferase 1, mitochondrialQ8TCS8
Solute Carrier Family 22 (Organic Cation Transporter), Member 4 604190SLC22A4-associated Hearing Impairment6583Solute carrier family 22 member 4Q9H015
Solute Carrier Family 35, Member C1 605881Congenital Disorder of Glycosylation, Type IIc55343GDP-fucose transporter 1Q96A29
Potassium Channel Tetramerization Domain-Containing Protein 7 611725Epilepsy, Progressive Myoclonic, 3, with or without Intracellular Inclusions154881BTB/POZ domain-containing protein KCTD7Q96MP8
Notch Receptor 2 600275Hajdu-Cheney Syndrome4853Neurogenic locus notch homolog protein 2Q04721
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