CTGA Database Search Result

Record Category :
Sort by :

Diseases

NameOMIM NumberRelated Gene RecordWHO-ICD ClassificationMode of Inheritance
Neuropathy, Hereditary Sensory and Autonomic, Type IX, with Developmental Delay615031Tectonin Beta-Propeller Repeat-Containing Protein 2Diseases of the nervous systemAutosomal, Recessive
Usher Syndrome, Type ID601067Cadherin 23Diseases of the eye and adnexaAutosomal, Recessive
Microvascular Complications of Diabetes, Susceptibility to, 1603933Nonmetastatic Cells 3, Protein Expressed in; Fas-Activated Serine/Threonine Kinase; Shroom Family Member 3Endocrine, nutritional and metabolic diseases
Orotic Aciduria258900Uridine Monophosphate SynthetaseCongenital malformations, deformations and chromosomal abnormalitiesAutosomal, Recessive
Developmental And Epileptic Encephalopathy 62617938Sodium Voltage-Gated Channel, Alpha Subunit 3Diseases of the nervous systemAutosomal, Dominant
NameOMIM NumberRelated Gene RecordWHO-ICD ClassificationMode of Inheritance
Neuropathy, Hereditary Sensory and Autonomic, Type IX, with Developmental Delay615031 Tectonin Beta-Propeller Repeat-Containing Protein 2Diseases of the nervous systemAutosomal, Recessive
Usher Syndrome, Type ID601067 Cadherin 23Diseases of the eye and adnexaAutosomal, Recessive
Microvascular Complications of Diabetes, Susceptibility to, 1603933 Nonmetastatic Cells 3, Protein Expressed in; Fas-Activated Serine/Threonine Kinase; Shroom Family Member 3Endocrine, nutritional and metabolic diseases
Orotic Aciduria258900 Uridine Monophosphate SynthetaseCongenital malformations, deformations and chromosomal abnormalitiesAutosomal, Recessive
Developmental And Epileptic Encephalopathy 62617938 Sodium Voltage-Gated Channel, Alpha Subunit 3Diseases of the nervous systemAutosomal, Dominant
NameOMIM NumberRelated Disease RecordNCBI Gene IDProtein NameUniprot ID
Tectonin Beta-Propeller Repeat-Containing Protein 2 615000Neuropathy, Hereditary Sensory and Autonomic, Type IX, with Developmental Delay9895Tectonin beta-propeller repeat-containing protein 2O15040
Arylsulfatase B 611542Mucopolysaccharidosis Type VI411Arylsulfatase BP15848
Cadherin 23 605516Usher Syndrome, Type ID; Deafness, Autosomal Recessive 1264072Cadherin-23Q9H251
R-Spondin 3 61057484870R-spondin-3Q9BXY4
BCAS3 Microtubule-Associated Cell Migration Factor 60747054828BCAS3 microtubule associated cell migration factorQ9H6U6
NameRelated Gene RecorddbSNPClinvarRelated Disease RecordClinical Significance
NM_032784.4:c.634+134= R-Spondin 3 2489629
NM_032784.4:c.437-953T>C R-Spondin 3 4382293
NM_032784.4:c.634+4571A>C R-Spondin 3 4644087
NM_032784.5:c.567G>A R-Spondin 3 1892172
NM_000046.5:c.475C>T Arylsulfatase B 202134230 1195895 Usher Syndrome, Type ID
© CAGS 2022. All rights reserved.