CTGA Database Search Result

Record Category :
Sort by :

Diseases

NameOMIM NumberRelated Gene RecordWHO-ICD ClassificationMode of Inheritance
Mucolipidosis II Alpha/Beta252500N-Acetylglucosamine-1-Phosphotransferase, Alpha/Beta SubunitsEndocrine, nutritional and metabolic diseasesAutosomal, Recessive
Rhizomelic Chondrodysplasia Punctata, Type 2222765Glyceronephosphate O-AcyltransferaseCongenital malformations, deformations and chromosomal abnormalitiesAutosomal, Recessive
Pseudohypoparathyroidism, Type IB603233GNAS Complex LocusEndocrine, nutritional and metabolic diseasesAutosomal, Dominant
Pseudohypoparathyroidism, Type IA103580GNAS Complex LocusEndocrine, nutritional and metabolic diseasesAutosomal, Dominant
Pallister-Hall Syndrome146510GLI-Kruppel Family Member 3Congenital malformations, deformations and chromosomal abnormalitiesAutosomal, Dominant
NameOMIM NumberRelated Gene RecordWHO-ICD ClassificationMode of Inheritance
Mucolipidosis II Alpha/Beta252500 N-Acetylglucosamine-1-Phosphotransferase, Alpha/Beta SubunitsEndocrine, nutritional and metabolic diseasesAutosomal, Recessive
Rhizomelic Chondrodysplasia Punctata, Type 2222765 Glyceronephosphate O-AcyltransferaseCongenital malformations, deformations and chromosomal abnormalitiesAutosomal, Recessive
Pseudohypoparathyroidism, Type IB603233 GNAS Complex LocusEndocrine, nutritional and metabolic diseasesAutosomal, Dominant
Pseudohypoparathyroidism, Type IA103580 GNAS Complex LocusEndocrine, nutritional and metabolic diseasesAutosomal, Dominant
Pallister-Hall Syndrome146510 GLI-Kruppel Family Member 3Congenital malformations, deformations and chromosomal abnormalitiesAutosomal, Dominant
NameOMIM NumberRelated Disease RecordNCBI Gene IDProtein NameUniprot ID
N-Acetylglucosamine-1-Phosphotransferase, Alpha/Beta Subunits 607840Mucolipidosis II Alpha/Beta; Mucolipidosis III Alpha/Beta79158N-acetylglucosamine-1-phosphotransferase subunits alpha/betaQ3T906
Glyceronephosphate O-Acyltransferase 602744Rhizomelic Chondrodysplasia Punctata, Type 28443Dihydroxyacetone phosphate acyltransferaseO15228
GNAS Complex Locus 139320McCune-Albright Syndrome; Pseudohypoparathyroidism, Type IA; Pseudohypoparathyroidism, Type IB2778Guanine nucleotide-binding protein G(s) subunit alpha isoforms XLasQ5JWF2
GLI-Kruppel Family Member 3 165240Pallister-Hall Syndrome2737Transcriptional activator GLI3P10071
Galactosamine-6-Sulfate Sulfatase 612222Mucopolysaccharidosis Type IVA2588N-acetylgalactosamine-6-sulfataseP34059
© CAGS 2021. All rights reserved.