Encodes a protein renal disease genes cases retinal dystrophies. Medical search. Frequent questions

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Anatomy15

Fundus Oculi Retina Photoreceptor Cells, Vertebrate Pigment Epithelium of Eye Photoreceptor Cells Retinal Pigment Epithelium Retinal Rod Photoreceptor Cells Retinal Cone Photoreceptor Cells Kidney Chromosomes, Human, Pair 4 Muscle, Skeletal Rod Cell Outer Segment Kidney Glomerulus X Chromosome Chromosomes, Human, Pair 5

Organisms4

Mice, Inbred mdx Rats, Mutant Strains Mice, Inbred C57BL Mice, Knockout

Diseases67

Retinal Dystrophies Muscular Dystrophies Retinal Degeneration Myotonic Dystrophy Leber Congenital Amaurosis Muscular Dystrophy, Duchenne Retinitis Pigmentosa Corneal Dystrophies, Hereditary Muscular Dystrophy, Animal Kidney Failure, Chronic Genetic Diseases, Inborn Retinal Diseases Fuchs' Endothelial Dystrophy Laurence-Moon Syndrome Eye Diseases, Hereditary Kidney Diseases Disease Blindness Muscular Dystrophy, Facioscapulohumeral Bardet-Biedl Syndrome Kidney Diseases, Cystic Microphthalmos Night Blindness Syndrome Alstrom Syndrome Muscular Dystrophy, Emery-Dreifuss Macular Degeneration Usher Syndromes Optic Atrophy, Hereditary, Leber Choroid Diseases Neuroaxonal Dystrophies Optic Atrophies, Hereditary Proteinuria Optic Disk Drusen Diabetic Nephropathies Disease Models, Animal Intellectual Disability Abnormalities, Multiple Genetic Predisposition to Disease Muscular Dystrophy, Oculopharyngeal Reflex Sympathetic Dystrophy Glomerulonephritis Vision Disorders Hepatolenticular Degeneration Vitelliform Macular Dystrophy Huntington Disease Disease Progression Renal Insufficiency, Chronic Polycystic Kidney Diseases Lupus Nephritis Nephritis, Interstitial AIDS-Associated Nephropathy Neuromuscular Diseases Albuminuria Nephritis Glomerulosclerosis, Focal Segmental Polycystic Kidney, Autosomal Dominant Nephrosclerosis Machado-Joseph Disease Renal Insufficiency Hypertension, Renal Uremia Glomerulonephritis, IGA Myotonic Disorders Chronic Disease Menkes Kinky Hair Syndrome Fibrosis

Chemicals and Drugs23

cis-trans-Isomerases Eye Proteins Peripherins Dystrophin Codon, Nonsense Genetic Markers Nerve Tissue Proteins Sarcoglycans Proteins Lipofuscin Carrier Proteins Rhodopsin Creatinine Membrane Proteins Dystroglycans Utrophin Intermediate Filament Proteins ATP-Binding Cassette Transporters Rod Opsins Guanylate Cyclase Thymopoietins Collagen Type VI Receptor Protein-Tyrosine Kinases

Analytical, Diagnostic and Therapeutic Techniques and Equipment33

Electroretinography Pedigree DNA Mutational Analysis Chromosome Mapping Renal Dialysis Visual Acuity Fluorescein Angiography Genetic Testing Glomerular Filtration Rate Disease Models, Animal Heteroduplex Analysis Tomography, Optical Coherence Visual Field Tests Polymerase Chain Reaction Ophthalmoscopy Kidney Transplantation Sequence Analysis, DNA Models, Genetic Kidney Function Tests Heterozygote Detection Renal Replacement Therapy Risk Factors Protein Interaction Mapping Peritoneal Dialysis Genetic Association Studies Genome-Wide Association Study Amino Acid Substitution Gene Expression Profiling Cohort Studies Case-Control Studies Retrospective Studies Biopsy Follow-Up Studies

Psychiatry and Psychology5

Visual Acuity Visual Fields Intellectual Disability Huntington Disease Vision, Ocular

Phenomena and Processes50

Genes, Recessive Consanguinity Mutation Genetic Linkage Phenotype Genes, Dominant Lod Score Mutation, Missense Exome Dark Adaptation Visual Acuity Exons Haplotypes Codon, Nonsense Homozygote Genetic Markers Heterozygote Genotype Base Sequence Glomerular Filtration Rate Visual Fields Frameshift Mutation Polymorphism, Single-Stranded Conformational Genetic Predisposition to Disease Polymorphism, Single Nucleotide Genome, Human Chromosomes, Human, Pair 4 Amino Acid Sequence Alleles Trinucleotide Repeat Expansion Linkage Disequilibrium Point Mutation Genetic Heterogeneity X Chromosome Protein Interaction Maps Gene Regulatory Networks Vision, Ocular Algorithms Time Factors Amino Acid Substitution Genetic Structures Polymorphism, Genetic Gene Frequency Light Founder Effect Chromosomes, Human, Pair 5 Fluorescence Genes Microsatellite Repeats Penetrance

Disciplines and Occupations3

Computational Biology Nephrology Genetics, Medical

Information Science5

Molecular Sequence Data Base Sequence Databases, Genetic Amino Acid Sequence Algorithms

Health Care8

Genetic Testing Age of Onset Risk Factors Genome-Wide Association Study Cohort Studies Case-Control Studies Retrospective Studies Follow-Up Studies

Anatomy Organisms Diseases Chemicals and Drugs Analytical, Diagnostic and Therapeutic Techniques and Equipment Psychiatry and Psychology Phenomena and Processes Disciplines and Occupations Information Science Health Care

Retinal Dystrophies Muscular Dystrophies Retinal Degeneration Myotonic Dystrophy Leber Congenital Amaurosis Muscular Dystrophy, Duchenne Retinitis Pigmentosa Corneal Dystrophies, Hereditary Electroretinography cis-trans-Isomerases Pedigree Eye Proteins Muscular Dystrophy, Animal Kidney Failure, Chronic Fundus Oculi Genes, Recessive Consanguinity Genetic Diseases, Inborn Retinal Diseases Mutation Fuchs' Endothelial Dystrophy Laurence-Moon Syndrome Eye Diseases, Hereditary Kidney Diseases Genetic Linkage DNA Mutational Analysis Disease Retina Photoreceptor Cells, Vertebrate Chromosome Mapping Peripherins Blindness Phenotype Muscular Dystrophy, Facioscapulohumeral Genes, Dominant Dystrophin Bardet-Biedl Syndrome Kidney Diseases, Cystic Pigment Epithelium of Eye Renal Dialysis Microphthalmos Photoreceptor Cells Night Blindness Lod Score Mutation, Missense Syndrome Exome Alstrom Syndrome Dark Adaptation Visual Acuity Exons Retinal Pigment Epithelium Haplotypes Muscular Dystrophy, Emery-Dreifuss Macular Degeneration Fluorescein Angiography Mice, Inbred mdx Molecular Sequence Data Retinal Rod Photoreceptor Cells Codon, Nonsense Homozygote Usher Syndromes Optic Atrophy, Hereditary, Leber Genetic Markers Genetic Testing Age of Onset Heterozygote Genotype Retinal Cone Photoreceptor Cells Choroid Diseases Neuroaxonal Dystrophies Nerve Tissue Proteins Optic Atrophies, Hereditary Proteinuria Base Sequence Rats, Mutant Strains Optic Disk Drusen Sarcoglycans Proteins Glomerular Filtration Rate Kidney Lipofuscin Diabetic Nephropathies Visual Fields Frameshift Mutation Disease Models, Animal Polymorphism, Single-Stranded Conformational Heteroduplex Analysis Intellectual Disability Abnormalities, Multiple Genetic Predisposition to Disease Tomography, Optical Coherence Polymorphism, Single Nucleotide Carrier Proteins Rhodopsin Creatinine Membrane Proteins Muscular Dystrophy, Oculopharyngeal Dystroglycans Visual Field Tests

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