CTGA Database Search Result

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Total of 2492 Records Found.
Total of 2492 Records Found.
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Diseases

NameOMIM NumberRelated Gene RecordWHO-ICD ClassificationMode of Inheritance
Hyperphosphatasia with Impaired Intellectual Development Syndrome 2614749Phosphatidylinositol Glycan Anchor Biosynthesis Class O ProteinCongenital malformations, deformations and chromosomal abnormalitiesAutosomal, Recessive
Encephalopathy, Progressive, Early-Onset, with Brain Edema and/or Leukoencephalopathy, 1617186NAD(P)HX EpimeraseEndocrine, nutritional and metabolic diseasesAutosomal, Recessive
Mitochondrial DNA Depletion Syndrome 1 (MNGIE Type)603041Thymidine PhosphorylaseDiseases of the nervous systemAutosomal, Recessive
Cutis Laxa, Autosomal Recessive, Type ID620780EGF-Containing Fibulin-Like Extracellular Matrix Protein 1Diseases of the musculoskeletal system and connective tissueAutosomal, Recessive
Intellectual Developmental Disorder, X-Linked 101300928Midline 2Mental and behavioural disordersX-linked, Recessive
NameOMIM NumberRelated Gene RecordWHO-ICD ClassificationMode of Inheritance
Hyperphosphatasia with Impaired Intellectual Development Syndrome 2614749 Phosphatidylinositol Glycan Anchor Biosynthesis Class O ProteinCongenital malformations, deformations and chromosomal abnormalitiesAutosomal, Recessive
Encephalopathy, Progressive, Early-Onset, with Brain Edema and/or Leukoencephalopathy, 1617186 NAD(P)HX EpimeraseEndocrine, nutritional and metabolic diseasesAutosomal, Recessive
Mitochondrial DNA Depletion Syndrome 1 (MNGIE Type)603041 Thymidine PhosphorylaseDiseases of the nervous systemAutosomal, Recessive
Cutis Laxa, Autosomal Recessive, Type ID620780 EGF-Containing Fibulin-Like Extracellular Matrix Protein 1Diseases of the musculoskeletal system and connective tissueAutosomal, Recessive
Intellectual Developmental Disorder, X-Linked 101300928 Midline 2Mental and behavioural disordersX-linked, Recessive
NameOMIM NumberRelated Disease RecordNCBI Gene IDProtein NameUniprot ID
NAD(P)HX Epimerase 608862Encephalopathy, Progressive, Early-Onset, with Brain Edema and/or Leukoencephalopathy, 1128240NAD(P)H-hydrate epimeraseQ8NCW5
Complex I, Subunit ND4 516003Leber Optic Atrophy4538NADH-ubiquinone oxidoreductase chain 4P03905
Complex I, Subunit ND3 516002Leber Optic Atrophy4537NADH-ubiquinone oxidoreductase chain 3P03897
Thymidine Phosphorylase 131222Mitochondrial DNA Depletion Syndrome 1 (MNGIE Type)1890Thymidine phosphorylaseP19971
MAP7 Domain-Containing Protein 3 300930Major Affective Disorder 179649MAP7 domain-containing protein 3Q8IWC1
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© CAGS 2025. All rights reserved.