Genes

Chromosome

Genetics

Genotype

Phenotype

Genome

Cell

Cytoplasm

Endoplasmic reticulum

Golgi apparatus

Nucleus

Mitochondria

Ribosomes

GDB Human Genome Database

DNA or deoxyribonucleic acid

Nucleotide

DNA structure

Human genome

DNA sequence

Mitochondrial DNA

Aneuploidy

Trisomy

Monosomy

Gene mutation

Hereditary or germline mutations

Acquired or somatic mutation

De novo (new) mutation

Genetic disorder

DNA repair

Beneficial mutations

Variants of unknown significance

Missense mutation

Nonsense mutation

Insertion

Deletion

Duplication

Frameshift mutation

Repeat expansion

Complex of multifactorial disorders

Gene names

Proteins

Gene expression

Transcription

Translation

Central Dogma

Gene regulation

Transcription factor

Epigenome

Epigenomic modification or methylation

Human Epigenome Project

Cytogenetic location of a gene

Molecular location of a gene

Hereditary disease

Genetic disease

Familial disease

Mendelian disorder (single-gene disorder)

Autosomal dominant inheritance

Autosomal recessive inheritance

X-linked recessive inheritance

Codominant inheritance

Mitochondrial or maternal inheritance

Reduced or incomplete penetrance

Variable expressivity

Clinical heterogeneity

Locus heterogeneity

Allelic heterogeneity

Anticipation

Digenic inheritance

Genetic testing

Molecular genetic test or gene tests

Chromosomal genetic tests

Biochemical genetic tests

Positive genetic test

Negative genetic test

Uninformative or indeterminate test result

Open reading frame

Single nucleotide polymorphisms

Genome-wide association study

Whole exome sequencing

whole genome
sequencing

Gene therapy

Precision medicine