CTGA Database Search Result

Total of 2208 Records Found.
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Diseases

NameOMIM NumberRelated Gene RecordWHO-ICD ClassificationMode of Inheritance
GM2-Gangliosidosis, AB Variant272750GM2 ActivatorEndocrine, nutritional and metabolic diseasesAutosomal, Recessive
Sars-Cov-2 Infection, Susceptibility toMajor Histocompatibility Complex, Class I, A; Major Histocompatibility Complex, Class II, DR Beta-1; Major Histocompatibility Complex, Class I, B; Major Histocompatibility Complex, Class I, C; Major Histocompatibility Complex, Class II, DQ Beta-1Codes for special purposes
Developmental Dysplasia of Hip142700Congenital malformations, deformations and chromosomal abnormalities
Cardiofaciocutaneous Syndrome 1115150B-Raf Protooncogene, Serine/Threonine KinaseCongenital malformations, deformations and chromosomal abnormalitiesAutosomal, Dominant
Angelman Syndrome105830Ubiquitin-Protein Ligase E3aCongenital malformations, deformations and chromosomal abnormalitiesAutosomal, Dominant
NameOMIM NumberRelated Gene RecordWHO-ICD ClassificationMode of Inheritance
GM2-Gangliosidosis, AB Variant272750 GM2 ActivatorEndocrine, nutritional and metabolic diseasesAutosomal, Recessive
Sars-Cov-2 Infection, Susceptibility to Major Histocompatibility Complex, Class I, A; Major Histocompatibility Complex, Class II, DR Beta-1; Major Histocompatibility Complex, Class I, B; Major Histocompatibility Complex, Class I, C; Major Histocompatibility Complex, Class II, DQ Beta-1Codes for special purposes
Developmental Dysplasia of Hip142700 Congenital malformations, deformations and chromosomal abnormalities
Cardiofaciocutaneous Syndrome 1115150 B-Raf Protooncogene, Serine/Threonine KinaseCongenital malformations, deformations and chromosomal abnormalitiesAutosomal, Dominant
Angelman Syndrome105830 Ubiquitin-Protein Ligase E3aCongenital malformations, deformations and chromosomal abnormalitiesAutosomal, Dominant
NameOMIM NumberRelated Disease RecordNCBI Gene IDProtein NameUniprot ID
GM2 Activator 613109GM2-Gangliosidosis, AB Variant2760Ganglioside GM2 activatorP17900
Nuclear Export Mediator Factor 608378Intellectual Developmental Disorder with Speech Delay and Axonal Peripheral Neuropathy9147Ribosome quality control complex subunit NEMFO60524
SRY-BOX 3 313430Panhypopituitarism, X-Linked
Fragile Histidine Triad Gene 601153Breast Cancer
Methylguanine-DNA Methyltransferase 156569Lymphoma, Non-Hodgkin, Familial
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