CTGA Database Search Result - CAGS

CTGA Database Search Result

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Diseases

Name	OMIM Number	Related Gene Record	WHO-ICD Classification	Mode of Inheritance
Diarrhea 2, with Microvillus Atrophy, with or without Cholestasis	251850	Myosin VB	Certain conditions originating in the perinatal period	Autosomal, Recessive
Insensitivity to Pain, Congenital, with Anhidrosis	256800	Neurotrophic Tyrosine Kinase, Receptor, Type 1	Congenital malformations, deformations and chromosomal abnormalities	Autosomal, Recessive
Cystic Fibrosis	219700	Cystic Fibrosis Transmembrane Conductance Regulator	Endocrine, nutritional and metabolic diseases	Autosomal, Recessive
Hypertension, Essential	145500	Angiotensin I; Apolipoprotein B; Angiotensin I-Converting Enzyme; Guanine Nucleotide-Binding Protein, Beta-3; Renin; Toll-Like Receptor 2	Diseases of the circulatory system
Bardet-Biedl Syndrome 12	615989	BBS12 Gene	Congenital malformations, deformations and chromosomal abnormalities	Autosomal, Recessive

genes

Name	OMIM Number	Related Disease Record	NCBI Gene ID	Protein Name	Uniprot ID
Myosin VB	606540	Diarrhea 2, with Microvillus Atrophy, with or without Cholestasis	4645	Unconventional myosin-Vb	Q9ULV0
Cystic Fibrosis Transmembrane Conductance Regulator	602421	Cystic Fibrosis; Vas Deferens, Congenital Bilateral Aplasia of	1080	Cystic fibrosis transmembrane conductance regulator	P13569
Apolipoprotein A-I	107680		335	Apolipoprotein A-I	P02647
Neurotrophic Tyrosine Kinase, Receptor, Type 1	191315	Insensitivity to Pain, Congenital, with Anhidrosis	4914	High affinity nerve growth factor receptor	P04629
Histone Cell Cycle Regulator	600237	Intellectual Deficiency, Unclassified	7290	Protein HIRA	P54198

variants

Name	Related Gene Record	dbSNP	Clinvar	Related Disease Record	Clinvar Clinical Significance	CTGA Clinical Significance
NM_001080467.3:c.4844C>T	Myosin VB	776975234		Diarrhea 2, with Microvillus Atrophy, with or without Cholestasis
NM_001080467.3:c.1966C>T	Myosin VB	121908105	4251	Diarrhea 2, with Microvillus Atrophy, with or without Cholestasis
NM_002529.4:c.253C>A	Neurotrophic Tyrosine Kinase, Receptor, Type 1	543320028	584593	Insensitivity to Pain, Congenital, with Anhidrosis
NM_000492.3:c.1522_1524del	Cystic Fibrosis Transmembrane Conductance Regulator	121909001		Cystic Fibrosis; Vas Deferens, Congenital Bilateral Aplasia of
NM_000492.3:c.3846G>A	Cystic Fibrosis Transmembrane Conductance Regulator	77010898	7129	Cystic Fibrosis

Name	OMIM Number	Related Gene Record	WHO-ICD Classification	Mode of Inheritance
Diarrhea 2, with Microvillus Atrophy, with or without Cholestasis	251850	Myosin VB	Certain conditions originating in the perinatal period	Autosomal, Recessive
Insensitivity to Pain, Congenital, with Anhidrosis	256800	Neurotrophic Tyrosine Kinase, Receptor, Type 1	Congenital malformations, deformations and chromosomal abnormalities	Autosomal, Recessive
Cystic Fibrosis	219700	Cystic Fibrosis Transmembrane Conductance Regulator	Endocrine, nutritional and metabolic diseases	Autosomal, Recessive
Hypertension, Essential	145500	Angiotensin I; Apolipoprotein B; Angiotensin I-Converting Enzyme; Guanine Nucleotide-Binding Protein, Beta-3; Renin; Toll-Like Receptor 2	Diseases of the circulatory system
Bardet-Biedl Syndrome 12	615989	BBS12 Gene	Congenital malformations, deformations and chromosomal abnormalities	Autosomal, Recessive

Name	OMIM Number	Related Disease Record	NCBI Gene ID	Protein Name	Uniprot ID
Myosin VB	606540	Diarrhea 2, with Microvillus Atrophy, with or without Cholestasis	4645	Unconventional myosin-Vb	Q9ULV0
Cystic Fibrosis Transmembrane Conductance Regulator	602421	Cystic Fibrosis; Vas Deferens, Congenital Bilateral Aplasia of	1080	Cystic fibrosis transmembrane conductance regulator	P13569
Apolipoprotein A-I	107680		335	Apolipoprotein A-I	P02647
Neurotrophic Tyrosine Kinase, Receptor, Type 1	191315	Insensitivity to Pain, Congenital, with Anhidrosis	4914	High affinity nerve growth factor receptor	P04629
Histone Cell Cycle Regulator	600237	Intellectual Deficiency, Unclassified	7290	Protein HIRA	P54198

Name	Related Gene Record	dbSNP	Clinvar	Related Disease Record	Clinvar Clinical Significance	CTGA Clinical Significance
NM_001080467.3:c.4844C>T	Myosin VB	776975234		Diarrhea 2, with Microvillus Atrophy, with or without Cholestasis
NM_001080467.3:c.1966C>T	Myosin VB	121908105	4251	Diarrhea 2, with Microvillus Atrophy, with or without Cholestasis
NM_002529.4:c.253C>A	Neurotrophic Tyrosine Kinase, Receptor, Type 1	543320028	584593	Insensitivity to Pain, Congenital, with Anhidrosis
NM_000492.3:c.1522_1524del	Cystic Fibrosis Transmembrane Conductance Regulator	121909001		Cystic Fibrosis; Vas Deferens, Congenital Bilateral Aplasia of
NM_000492.3:c.3846G>A	Cystic Fibrosis Transmembrane Conductance Regulator	77010898	7129	Cystic Fibrosis

© CAGS 2022. All rights reserved.

© CAGS 2022. All rights reserved.