Gene autosomal dominant penetrance. Medical search. Frequent questions

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Anatomy25

Chromosomes, Human, Pair 2 Chromosomes, Human, Pair 19 Chromosomes, Human, Pair 16 Chromosomes, Human, Pair 1 Chromosomes, Human, Pair 4 Chromosomes, Human, Pair 7 Chromosomes, Human, Pair 6 Chromosomes, Human, Pair 5 Chromosomes, Human, Pair 10 Chromosomes, Human, Pair 17 Chromosomes, Human, Pair 3 Chromosomes, Human, Pair 12 Toes Kidney Chromosomes, Human, Pair 9 Chromosomes, Human, Pair 11 Cell Line Chromosomes, Human, Pair 15 Cells, Cultured Fundus Oculi Chromosomes, Human, Pair 20 X Chromosome Cyst Fluid Chromosomes, Human, Pair 14 Brain

Organisms4

Mice, Transgenic Mice, Inbred C57BL Mice, Mutant Strains Mice, Knockout

Diseases107

Polycystic Kidney, Autosomal Dominant Retinitis Pigmentosa Optic Atrophy, Autosomal Dominant Syndrome Genetic Predisposition to Disease Polycystic Kidney Diseases Cataract CADASIL Abnormalities, Multiple Hand Deformities, Congenital Spinocerebellar Degenerations Foot Deformities, Congenital Dementia, Multi-Infarct Cerebellar Ataxia Syndactyly Genetic Diseases, Inborn Chromosome Disorders Spastic Paraplegia, Hereditary Dystonia Musculorum Deformans Spinocerebellar Ataxias Optic Atrophy, Hereditary, Leber Ectodermal Dysplasia Dystonia Cysts Keratoderma, Palmoplantar Nails, Malformed Hearing Loss, Sensorineural Deafness Disease Models, Animal Eye Abnormalities Tuberous Sclerosis Eye Diseases, Hereditary Polydactyly Hirschsprung Disease Charcot-Marie-Tooth Disease Neoplastic Syndromes, Hereditary Limb Deformities, Congenital Epilepsy, Frontal Lobe Craniofacial Abnormalities Telangiectasia, Hereditary Hemorrhagic Chorea Neurofibromatosis 1 Alagille Syndrome Amyloid Neuropathies, Familial Skin Diseases, Genetic Mandibulofacial Dysostosis Cleft Palate Exostoses, Multiple Hereditary Bone Diseases, Developmental Myotonia Congenita Tooth Abnormalities Dystonic Disorders Hereditary Sensory and Motor Neuropathy Myoclonus Retinal Degeneration Noonan Syndrome Cardiomyopathy, Hypertrophic, Familial Job Syndrome Cleft Lip Pigmentation Disorders Hearing Loss Epilepsy, Partial, Sensory Optic Atrophies, Hereditary Huntington Disease Peutz-Jeghers Syndrome Diabetes Insipidus, Neurogenic Muscular Diseases Marfan Syndrome Ophthalmoplegia, Chronic Progressive External Anticipation, Genetic Ophthalmoplegia Osteochondrodysplasias Hemochromatosis Nail-Patella Syndrome Chromosome Aberrations Branchio-Oto-Renal Syndrome Basal Cell Nevus Syndrome Genetic Diseases, X-Linked Darier Disease Corneal Dystrophies, Hereditary Multiple Endocrine Neoplasia Hereditary Sensory and Autonomic Neuropathies Hypokalemic Periodic Paralysis Cleidocranial Dysplasia Hypotrichosis Porphyrias, Hepatic Multiple Endocrine Neoplasia Type 2a Blepharoptosis Muscular Dystrophy, Emery-Dreifuss Hypoparathyroidism Kidney Diseases, Cystic Arrhythmogenic Right Ventricular Dysplasia Coloboma Candidiasis, Chronic Mucocutaneous Osteopetrosis Achondroplasia Muscular Dystrophies Hamartoma Syndrome, Multiple Chromosome Deletion Piebaldism Breast Neoplasms Colorectal Neoplasms, Hereditary Nonpolyposis Hypertelorism Paraparesis, Spastic Angiomatosis Cardiomyopathy, Hypertrophic Nephritis, Hereditary

Chemicals and Drugs34

TRPP Cation Channels Genetic Markers Eye Proteins Codon, Nonsense gamma-Crystallins beta-Crystallin A Chain Rhodopsin Membrane Proteins Transcription Factors Peripherins DNA Primers DNA Proteins beta-Crystallin B Chain Prealbumin Nerve Tissue Proteins Nuclear Proteins Homeodomain Proteins DNA-Binding Proteins DNA, Mitochondrial Connexins Neurophysins RNA, Messenger Proto-Oncogene Proteins c-ret BRCA2 Protein Guanylate Cyclase-Activating Proteins Bone Morphogenetic Protein Receptors, Type II Carrier Proteins Proto-Oncogene Proteins Protein-Serine-Threonine Kinases RNA Splice Sites GTP Phosphohydrolases Tumor Suppressor Proteins Mutant Proteins

Analytical, Diagnostic and Therapeutic Techniques and Equipment23

Pedigree DNA Mutational Analysis Chromosome Mapping Genetic Testing Models, Genetic Polymerase Chain Reaction Amino Acid Substitution Sequence Analysis, DNA Disease Models, Animal Electroretinography Crosses, Genetic Heterozygote Detection Genetic Association Studies Case-Control Studies Gene Knock-In Techniques Transfection Magnetic Resonance Imaging Likelihood Functions Sequence Alignment Blotting, Western Reverse Transcriptase Polymerase Chain Reaction Immunohistochemistry Risk Factors

Psychiatry and Psychology4

Dementia, Multi-Infarct Family Huntington Disease Nuclear Family

Phenomena and Processes75

Penetrance Genes, Dominant Genetic Linkage Mutation Lod Score Phenotype Heterozygote Mutation, Missense Haplotypes Genes, Recessive Genetic Heterogeneity Genotype Genetic Predisposition to Disease Alleles Genetic Markers Exons Base Sequence Germ-Line Mutation Chromosomes, Human, Pair 2 Chromosomes, Human, Pair 19 Microsatellite Repeats Homozygote Founder Effect Point Mutation Frameshift Mutation Chromosomes, Human, Pair 16 Polymorphism, Single-Stranded Conformational Chromosomes, Human, Pair 1 Codon, Nonsense Amino Acid Substitution Gene Frequency Chromosomes, Human, Pair 4 Chromosomes, Human, Pair 7 Chromosomes, Human, Pair 6 Amino Acid Sequence Exome Genes, BRCA1 Genes, Modifier Genetic Variation Sequence Deletion Chromosomes, Human, Pair 5 Chromosomes, Human, Pair 10 Chromosomes, Human, Pair 17 Consanguinity Chromosomes, Human, Pair 3 Chromosomes, Human, Pair 12 Polymorphism, Single Nucleotide Inheritance Patterns Gene Deletion Chromosomes, Human, Pair 9 Polymorphism, Restriction Fragment Length Haploinsufficiency Polymorphism, Genetic Chromosomes, Human, Pair 11 Gene Expression Trinucleotide Repeats Signal Transduction Genes, BRCA2 Genes, Neurofibromatosis 1 Anticipation, Genetic Chromosome Aberrations Chromosomes, Human, Pair 15 Introns Trinucleotide Repeat Expansion Genetic Loci Transfection Chromosomes, Human, Pair 20 X Chromosome RNA Splice Sites Chromosomes, Human, Pair 14 Sequence Homology, Amino Acid Chromosome Deletion Epistasis, Genetic Protein Structure, Tertiary Gene Expression Regulation

Disciplines and Occupations2

Genetic Counseling Immunohistochemistry

Anthropology, Education, Sociology and Social Phenomena2

Family Nuclear Family

Information Science3

Molecular Sequence Data Base Sequence Amino Acid Sequence

Named Groups3

Jews Asian Continental Ancestry Group Infant, Newborn

Health Care7

Family Health Age of Onset Genetic Testing Genetic Counseling Case-Control Studies Likelihood Functions Risk Factors

Geographicals2

Anatomy Organisms Diseases Chemicals and Drugs Analytical, Diagnostic and Therapeutic Techniques and Equipment Psychiatry and Psychology Phenomena and Processes Disciplines and Occupations Anthropology, Education, Sociology and Social Phenomena Information Science Named Groups Health Care

Penetrance Genes, Dominant Pedigree Polycystic Kidney, Autosomal Dominant Genetic Linkage Mutation Lod Score Phenotype DNA Mutational Analysis Retinitis Pigmentosa TRPP Cation Channels Heterozygote Mutation, Missense Chromosome Mapping Optic Atrophy, Autosomal Dominant Haplotypes Family Health Syndrome Age of Onset Genes, Recessive Genetic Heterogeneity Genotype Genetic Predisposition to Disease Alleles Genetic Markers Molecular Sequence Data Genetic Testing Polycystic Kidney Diseases Cataract CADASIL Exons Base Sequence Germ-Line Mutation Chromosomes, Human, Pair 2 Abnormalities, Multiple Eye Proteins Chromosomes, Human, Pair 19 Hand Deformities, Congenital Microsatellite Repeats Spinocerebellar Degenerations Homozygote Foot Deformities, Congenital Founder Effect Point Mutation Dementia, Multi-Infarct Cerebellar Ataxia Frameshift Mutation Family Models, Genetic Syndactyly Chromosomes, Human, Pair 16 Genetic Diseases, Inborn Chromosome Disorders Polymorphism, Single-Stranded Conformational Spastic Paraplegia, Hereditary Chromosomes, Human, Pair 1 Polymerase Chain Reaction Dystonia Musculorum Deformans Codon, Nonsense Spinocerebellar Ataxias Amino Acid Substitution Optic Atrophy, Hereditary, Leber Ectodermal Dysplasia Dystonia Cysts Gene Frequency gamma-Crystallins Chromosomes, Human, Pair 4 Keratoderma, Palmoplantar Sequence Analysis, DNA Nails, Malformed Genetic Counseling beta-Crystallin A Chain Jews Hearing Loss, Sensorineural Deafness Disease Models, Animal Electroretinography Rhodopsin Crosses, Genetic Eye Abnormalities Chromosomes, Human, Pair 7 Chromosomes, Human, Pair 6 Amino Acid Sequence Heterozygote Detection Tuberous Sclerosis Exome Mice, Transgenic Genes, BRCA1 Genes, Modifier Genetic Variation Eye Diseases, Hereditary Sequence Deletion Chromosomes, Human, Pair 5 Chromosomes, Human, Pair 10 Polydactyly Hirschsprung Disease Charcot-Marie-Tooth Disease Neoplastic Syndromes, Hereditary Chromosomes, Human, Pair 17

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