CTGA Database Search Result

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Total of 2401 Records Found.
Total of 2401 Records Found.
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Diseases

NameOMIM NumberRelated Gene RecordWHO-ICD ClassificationMode of Inheritance
Leber Congenital Amaurosis 2204100Retinal Pigment Epithelium-Specific Protein, 65-kDDiseases of the eye and adnexaAutosomal, Recessive
Leber Congenital Amaurosis 1204000Myosin VIIA; Guanylate Cyclase 2D, Membrane; ALMS1 Centrosome and Basal Body Associated Protein; Cyclic Nucleotide-Gated Channel, Alpha-3; IQ Motif-Containing Protein B1Diseases of the eye and adnexaAutosomal, Recessive
Deafness, Autosomal Recessive 79613307TaperinDiseases of the ear and mastoid processAutosomal, Recessive
Deafness, Autosomal Recessive 18A602092USH1C GeneDiseases of the ear and mastoid processAutosomal, Recessive
Deafness, Autosomal Recessive 68610419Sphingosine-1-Phosphate Receptor 2Diseases of the ear and mastoid processAutosomal, Recessive
NameOMIM NumberRelated Gene RecordWHO-ICD ClassificationMode of Inheritance
Leber Congenital Amaurosis 2204100 Retinal Pigment Epithelium-Specific Protein, 65-kDDiseases of the eye and adnexaAutosomal, Recessive
Leber Congenital Amaurosis 1204000 Myosin VIIA; Guanylate Cyclase 2D, Membrane; ALMS1 Centrosome and Basal Body Associated Protein; Cyclic Nucleotide-Gated Channel, Alpha-3; IQ Motif-Containing Protein B1Diseases of the eye and adnexaAutosomal, Recessive
Deafness, Autosomal Recessive 79613307 TaperinDiseases of the ear and mastoid processAutosomal, Recessive
Deafness, Autosomal Recessive 18A602092 USH1C GeneDiseases of the ear and mastoid processAutosomal, Recessive
Deafness, Autosomal Recessive 68610419 Sphingosine-1-Phosphate Receptor 2Diseases of the ear and mastoid processAutosomal, Recessive
NameOMIM NumberRelated Disease RecordNCBI Gene IDProtein NameUniprot ID
Retinal Pigment Epithelium-Specific Protein, 65-kD 180069Retinitis Pigmentosa 20; Leber Congenital Amaurosis 26121Retinoid IsomerohydrolaseQ16518
Guanylate Cyclase 2D, Membrane 600179Leber Congenital Amaurosis 1; Cone-Rod Dystrophy 63000Retinal guanylyl cyclase 1Q02846
Sterol C5-Desaturase 6022866309Lathosterol oxidaseO75845
Anti-Mullerian Hormone 600957Persistent Mullerian Duct Syndrome, Types I and II268Muellerian-inhibiting factorP03971
Taperin 613354Deafness, Autosomal Recessive 79286262TaperinQ4KMQ1
NameRelated Gene RecorddbSNPClinvarRelated Disease RecordClinvar Clinical SignificanceCTGA Clinical Significance
NM_201525.4:c.1952G>A G Protein-Coupled Receptor 56 587783657 158627
NM_201525.4:c.64+5G>A G Protein-Coupled Receptor 56 2043729030 984712
NM_194248.3:c.5292-2A>C Otoferlin Deafness, Autosomal Recessive 9
NM_016239.4:c.6347del Myosin XVA Deafness, Autosomal Recessive 3
NM_014780.5:c.3733_3838del Cullin 7 Three M Syndrome 1
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© CAGS 2024. All rights reserved.