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Diseases

NameOMIM NumberRelated Gene RecordWHO-ICD ClassificationMode of Inheritance
Diarrhea 2, with Microvillus Atrophy, with or without Cholestasis251850Myosin VBCertain conditions originating in the perinatal periodAutosomal, Recessive
Insensitivity to Pain, Congenital, with Anhidrosis256800Neurotrophic Tyrosine Kinase, Receptor, Type 1Congenital malformations, deformations and chromosomal abnormalitiesAutosomal, Recessive
Cystic Fibrosis219700Cystic Fibrosis Transmembrane Conductance RegulatorEndocrine, nutritional and metabolic diseasesAutosomal, Recessive
Hypertension, Essential145500Angiotensin I; Apolipoprotein B; Angiotensin I-Converting Enzyme; Guanine Nucleotide-Binding Protein, Beta-3; Renin; Toll-Like Receptor 2Diseases of the circulatory system
Bardet-Biedl Syndrome 12615989BBS12 GeneCongenital malformations, deformations and chromosomal abnormalitiesAutosomal, Recessive
NameOMIM NumberRelated Gene RecordWHO-ICD ClassificationMode of Inheritance
Diarrhea 2, with Microvillus Atrophy, with or without Cholestasis251850 Myosin VBCertain conditions originating in the perinatal periodAutosomal, Recessive
Insensitivity to Pain, Congenital, with Anhidrosis256800 Neurotrophic Tyrosine Kinase, Receptor, Type 1Congenital malformations, deformations and chromosomal abnormalitiesAutosomal, Recessive
Cystic Fibrosis219700 Cystic Fibrosis Transmembrane Conductance RegulatorEndocrine, nutritional and metabolic diseasesAutosomal, Recessive
Hypertension, Essential145500 Angiotensin I; Apolipoprotein B; Angiotensin I-Converting Enzyme; Guanine Nucleotide-Binding Protein, Beta-3; Renin; Toll-Like Receptor 2Diseases of the circulatory system
Bardet-Biedl Syndrome 12615989 BBS12 GeneCongenital malformations, deformations and chromosomal abnormalitiesAutosomal, Recessive
NameOMIM NumberRelated Disease RecordNCBI Gene IDProtein NameUniprot ID
Myosin VB 606540Diarrhea 2, with Microvillus Atrophy, with or without Cholestasis4645Unconventional myosin-VbQ9ULV0
Cystic Fibrosis Transmembrane Conductance Regulator 602421Cystic Fibrosis; Vas Deferens, Congenital Bilateral Aplasia of1080Cystic fibrosis transmembrane conductance regulatorP13569
Apolipoprotein A-I 107680335Apolipoprotein A-IP02647
Neurotrophic Tyrosine Kinase, Receptor, Type 1 191315Insensitivity to Pain, Congenital, with Anhidrosis4914High affinity nerve growth factor receptorP04629
Histone Cell Cycle Regulator 600237Intellectual Deficiency, Unclassified7290Protein HIRAP54198
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