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- 11β-hydroxylase deficiency
- 16S ribosomal RNA
- 2-Aminopurine
- 21-hydroxylase deficiency
- 22q11 deletion syndrome
- 23s ribosomal RNA
- 310 helix
- 43S preinitiation complex
- 47 XYY syndrome
- 5 methylcytosine
- 5 untranslated region
- 5' UTR
- 5′ flanking region
- 50s ribosomal subunit
- 5q- syndrome
- 5S ribosomal RNA
- 5S rRNA
- 7-Methylguanine
- 8-Oxoguanine
- A-site
- Abetalipoproteinemia
- ABL gene
- Accessory breast
- Acentric fragment
- Achondrogenesis
- Achondrogenesis type 1B
- Achondroplasia
- Acridine orange
- Acrocallosal syndrome
- Acrodermatitis enteropathica
- Acrodysostosis
- Actinin
- ACTN3
- Acyl-CoA oxidase
- Adapter
- Adaptive response
- Additive genetic effects
- Adenine
- Adenosine deaminase deficiency
- Adenylosuccinate
- Adoption studies
- ADP ribosyl cyclase
- ADP-ribosyl cyclase
- Adrenal hyperplasia
- Adrenal hypoplasia congenita
- Advanced Therapy Medicinal Product
- Agarose gel electrophoresis
- AGAT deficiency
- Age of onset
- Alagebrium
- Alarmone
- Albright's hereditary osteodystrophy
- Alipogene tiparvovec
- Allan-Herndon-Dudley syndrome
- Allele frequency
- Alleles
- Allelic exclusion
- Allelic heterogeneity
- Allotopic expression
- Alpers disease
- Alpha 2 antiplasmin
- Alpha 2-antiplasmin
- Alpha actinin
- Alpha actinin 3
- Alpha helix
- Alpha-thalassemia mental retardation syndrome
- Alstrom syndrome
- Alternating hemiplegia
- Alternating hemiplegia of childhood
- Alternative Lengthening of Telomeres
- Alternative RNA splicing
- Alternative splicing
- Alu element
- Amadori rearrangement
- AMELY
- Ames test
- Aminoacyl tRNA
- Aminoacyl tRNA synthetase
- Aminoacyl-tRNA
- Amniotic band syndrome
- Amorph
- AMP activated protein kinase
- AMP-activated protein kinase
- AMPK
- Amplicon sequencing
- Amplicons
- Amplification
- Amyoplasia
- Anabaena variabilis
- Analbuminaemia
- Analbuminemia
- Ancestry
- Ancient DNA
- Androgen receptor
- Aneuploidy
- Aniridia
- Ankyloblepharon
- Ankyloglossia
- Anomalies
- Anophthalmia
- Anorchia
- Antagomir
- Antecedents
- Anti-miRNA oligonucleotides
- Anti-sigma factors
- Anticodon
- Anticodons
- Antiplasmin
- Antisense
- Antisense oligodeoxynucleotide
- Antisense oligonucleotide
- Antisense therapy
- Antitermination
- Antley Bixler Syndrome
- Antley-Bixler syndrome
- AP site
- AP-1 binding site
- Ap4a
- Apert syndrome
- Aphakia
- Aphallia
- APLP2
- Aptamers
- Apurinic site
- Apyrimidinic site
- Arachnoid cysts
- Argininosuccinate lyase
- Aromatase deficiency
- Array comparative genomic hybridization
- Artemin
- Arterial tortuosity syndrome
- Artificial chromosome
- Asphyxiating thoracic dysplasia
- Association mapping
- AT-hook
- Atg1
- ATG8
- Athanogene
- Attenuation
- AU-rich elements
- Autoimmune lymphoproliferative syndrome
- Autonomously replicating sequences
- Autophagic vacuolar myopathy
- Autosomal dominant
- Autosomal dominant disorder
- Autosomal dominant disorders
- Autosomal dominant inheritance
- Autosomal recessive disorder
- Autosomal recessive gene
- Autosomal recessive inheritance
- Autosomal recessive polycystic kidney disease
- Autosomal trisomies
- Autosomes
- Auxotrophs
- Auxotrophy
- AVP gene
- Axenfeld-Rieger syndrome
- Azoospermia factor
- B chromosomes
- BAC
- BACE1-AS
- Backcrossing
- BacMam
- Bacterial chromosome
- Bacterial phyla
- Bacteroidetes
- Balanced translocation
- Baller-Gerold syndrome
- Bannayan-Riley-Ruvalcaba syndrome
- Bardet-Biedl Syndrome
- Bare lymphocyte syndrome
- Barr body
- Bartter syndrome
- Basal
- Basal cell nevus syndrome
- Base analog
- Base excision repair
- Base pairing
- BCR
- BCR gene
- Beals syndrome
- BEAMing
- Beckwith-Wiedemann syndrome
- Beclin 1
- BECN1
- Behavior genetics
- Behavioural genetics
- Beta sheets
- Beta turn
- Betacellulin
- Bethlem myopathy
- Bietti's crystalline dystrophy
- Binary Alignment Map
- Biobanks
- Biodistribution
- Bioecological model
- Bioreporter
- Biotinidase deficiency
- Birt-Hogg-Dube syndrome
- Birth defects
- Bisulfite sequencing
- Blackfan Diamond Anemia
- Blepharophimosis
- Bloom syndrome
- Blosum
- BMX
- Bohring-Opitz syndrome
- BPIFA1
- Branchio oto renal syndrome
- Branchio-oculo-facial syndrome
- Branchio-oto-renal syndrome
- Branchiootorenal syndrome
- BRCA2
- Breakage fusion bridge cycle
- Breakage-fusion-bridge cycle
- Bronchomalacia
- Brown syndrome
- Brown's syndrome
- Brushfield spots
- C banding
- C value
- C-raf
- C-terminal
- C-terminus
- C-value
- C57BL/6
- c9orf72
- CADASIL
- Calmodulin 1
- Calpain 3
- Calpain-3
- Cambridge Reference Sequence
- Campomelic dysplasia
- Camptodactyly
- Camptomelic dysplasia
- Camurati-Engelmann disease
- Cancer epigenetics
- Cancer genetics
- Cancer genomics
- CAP
- Capillary electrophoresis
- Capillary leak syndrome
- Capillary zone electrophoresis
- Capn2
- Capping enzyme
- CAR
- Carasil
- Carboxyglutamic acid
- Carboxylesterase 1
- Cardiolipin
- Caretaker gene
- Carnitine deficiency
- Carpenter syndrome
- Cas12a
- Cat eye syndrome
- Catalytic efficiency
- Catalytic RNA
- Cataract-microcornea syndrome
- Cationic liposome
- Caudal regression syndrome
- Caveolin 1
- CBP
- CCAAT enhancer binding protein
- CCAAT enhancer binding protein alpha
- CCAAT-enhancer-binding proteins
- cccDNA
- CCR4-Not
- CD25 deficiency
- CDC6
- CDK4
- CDKN1B
- CDKN2BAS
- CDKN2C
- cDNA microarray
- Cell-free DNA
- Centimorgan
- Centrin 2
- Centromere
- Centromeres
- Cerebral creatine deficiency
- Cerebrotendineous xanthomatosis
- Cerebrotendinous xanthomatosis
- Cervical agenesis
- Cgmp-dependent protein kinase
- Char syndrome
- CHARGE syndrome
- CHCHD10
- Chemical genetics
- Chemotaxonomy
- Chiasmata
- Child Syndrome
- Chimeric gene
- Chip sequencing
- Chloroplast DNA
- Choanal atresia
- Cholesterol ester storage disease
- Cholesteryl ester storage disease
- Chordee
- Chorea acanthocytosis
- Chorea-acanthocytosis
- Choroideremia
- Chp
- Chromatid
- Chromatids
- Chromatin
- Chromatin condensation
- Chromatin remodeling
- Chromatin structure
- Chromogenic substrate
- Chromogranin
- Chromoplexy
- Chromosomal aberrations
- Chromosomal abnormalities
- Chromosomal crossover
- Chromosomal disorder
- Chromosomal instability
- Chromosomal inversion
- Chromosomal polymorphism
- Chromosomal rearrangement
- Chromosomal translocation
- Chromosome
- Chromosome 1
- Chromosome 10
- Chromosome 11
- Chromosome 12
- Chromosome 13
- Chromosome 14
- Chromosome 15
- Chromosome 17
- Chromosome 18
- Chromosome 19
- Chromosome 1q
- Chromosome 20
- Chromosome 21
- Chromosome 22
- Chromosome 2p
- Chromosome 2q
- Chromosome 3
- Chromosome 3q
- Chromosome 4
- Chromosome 5
- Chromosome 6
- Chromosome 7
- Chromosome 9
- Chromosome aberrations
- Chromosome abnormality
- Chromosome analysis
- Chromosome anomaly
- Chromosome band
- Chromosome banding
- Chromosome deletion
- Chromosome disorder
- Chromosome disorders
- Chromosome duplication
- Chromosome fragility
- Chromosome instability
- Chromosome inversion
- Chromosome morphology
- Chromosome pairing
- Chromosome rearrangement
- Chromosome segregation
- Chromosome structure
- Chromosome translocation
- Chromosomes
- Chromothripsis
- Chronic progressive external ophthalmoplegia
- Ci protein
- Cib1
- Ciliopathies
- Ciliopathy
- Circular RNA
- Circulating free DNA
- Cis acting element
- Cistron
- Citrullination
- CKS1B
- Clades
- Cladistics
- Cladogram
- class II gene
- Classical genetics
- Clastogen
- Clastogenic
- Cleft
- Cleft lip
- Cleft lip and palate
- Cleft lip with or without cleft palate
- Cleft palate
- Cleidocranial dysplasia
- Clinical genetics
- Clinodactyly
- Clitoromegaly
- CLN3
- Cloacal exstrophy
- Cloning vector
- Coactivation
- Cockayne syndrome
- Coding DNA
- Coding region
- Codominance
- Codon
- Coenzyme Q10 deficiency
- Coexistence
- Coffin-Lowry syndrome
- Cohen syndrome
- Col11a2
- Cole1
- Collagen helix
- Common disease-common variant
- Common variable immunodeficiency
- Comparative genomic hybridization
- Complementary DNA
- Complete androgen insensitivity syndrome
- Compound heterozygosity
- Concatemers
- Congenic
- Congenic strains
- Congenital
- Congenital abnormalities
- Congenital absence of the vas deferens
- Congenital adrenal hyperplasia
- Congenital adrenal hyperplasia due to 21-hydroxylase deficiency
- Congenital amegakaryocytic thrombocytopenia
- Congenital anomaly
- Congenital blindness
- Congenital contractural arachnodactyly
- Congenital cystic adenomatoid malformation
- Congenital disorder
- Congenital disorder of glycosylation
- Congenital disorders
- Congenital erythropoietic porphyria
- Congenital fiber type disproportion
- Congenital fibrosis of the extraocular muscles
- Congenital hepatic fibrosis
- Congenital hypothyroidism
- Congenital insensitivity to pain with anhidrosis
- Congenital malformations
- Congenital myopathy
- Congenital pulmonary airway malformation
- Conjoined twins
- Connexin 32
- Connexin 43
- Consanguinity
- Conserved sequence
- Constitutive heterochromatin
- Constructs
- Contiguous gene syndrome
- CooA
- Copy number analysis
- Coregulators
- Corepressor
- Cornelia de Lange syndrome
- Cosegregation
- Costeff syndrome
- Costello syndrome
- Cowden syndrome
- COX6B1
- CpG islands
- CPG site
- Craniofacial syndrome
- Cre recombinase
- Cre-Lox recombination
- Creatine transporter defect
- Cri du chat
- CRISPR interference
- CRISPR RNA
- Cross syndrome
- Crossing over
- Crosslinking of DNA
- CRTC1
- CRTC2
- Cryab
- Cryopyrin-associated periodic syndrome
- Cryptic relatedness
- Cryptophthalmos
- Cryptorchidism
- Currarino syndrome
- Cyclase
- Cyclic ADP-ribose
- Cyclic di-AMP
- Cyclic di-GMP
- Cyclic GMP
- Cyclic guanosine monophosphate
- Cyclic nucleotides
- Cyclin A1
- Cyclin A2
- Cyclin B
- Cyclin B2
- Cyclin D3
- Cyclin dependent kinase inhibitor 2a
- Cyclin E
- Cyclin E1
- Cycline
- Cyclopia
- Cystic adenomatoid malformation
- Cystic fibrosis
- Cystic hygroma
- Cystinosis
- Cytochrome b5 deficiency
- Cytogenetics
- D loop
- DbSNP
- DBT
- De Barsy Syndrome
- De novo mutations
- Deformation
- Deinococcus radiodurans
- Deletion mapping
- Demethylation
- Dentinogenesis imperfecta
- Denys-Drash syndrome
- Deoxycytidine monophosphate
- Deoxyribonucleic acid
- Deoxyribonucleoside
- Deoxyribonucleotides
- Deoxyuridine monophosphate
- Depurination
- Derepression
- Derivative chromosome
- Detyrosination
- Developmental abnormalities
- Developmental Origins of Health and Disease
- Diadenosine tetraphosphate
- Diamond-blackfan anemia
- Diastrophic dysplasia
- Dicentric chromosome
- Dideoxynucleotides
- Dielectrophoresis
- Difference gel electrophoresis
- Differentially methylated regions
- Diffuse panbronchiolitis
- DiGeorge syndrome
- Dihydropyrimidine dehydrogenase deficiency
- Dinucleotide
- Dinucleotide repeat
- Dio2
- Dio3
- Dipalmitoylphosphatidylcholine
- Diploidy
- Direct DNA damage
- Direct repeat
- Directionality
- Disease gene identification
- Disomy
- Distal promoter
- Distichiasis
- DNA
- DNA adducts
- DNA analysis
- DNA analyzer
- DNA barcoding
- DNA bases
- DNA binding
- DNA binding domains
- DNA binding proteins
- DNA condensation
- DNA construct
- DNA cross linking
- DNA damage
- DNA damage checkpoint
- DNA damage checkpoints
- DNA damage response
- DNA end resection
- DNA extraction
- DNA fingerprinting
- DNA fragmentation
- DNA gyrase
- DNA helicase
- DNA helicases
- DNA hybridization
- DNA isolation
- DNA ligase
- DNA markers
- DNA methylation
- DNA methylation in cancer
- DNA microarrays
- DNA mismatch repair
- DNA mutation
- DNA origami
- DNA packaging
- DNA polymerase alpha
- DNA polymerase beta
- DNA primers
- DNA probes
- DNA profiling
- DNA purification
- DNA recombination
- DNA repair
- DNA repair enzymes
- DNA replication stress
- DNA sequence
- DNA sequencer
- DNA sequencing
- DNA shuffling
- DNA strand
- DNA structure
- DNA synthesis
- DNA topoisomerase
- DNA topology
- DNA transposons
- DNA vaccination
- DNA vaccines
- DNA viruses
- DNA-binding domains
- DNA-binding proteins
- DnaG
- DNAJA1
- DNAJB1
- DNAJC19
- DNAJC3
- DnaS
- DNase I hypersensitive sites
- DOCK8 deficiency
- Dominant gene
- Dominant inheritance
- Donohue syndrome
- Dosage compensation
- Dot blot
- Double minute chromosomes
- Double stranded DNA
- double stranded DNA virus
- Double stranded RNA
- double-stranded DNA virus
- Double-stranded RNA
- Down syndrome
- DPD deficiency
- DTNB
- Dual Inheritance Theory
- Dual oxidase 2
- Duane Retraction Syndrome
- Duane syndrome
- Duane-radial ray syndrome
- Dubowitz syndrome
- DUX4
- Dwarfism
- Dyskeratosis congenita
- E box element
- E site
- E-box
- Early response gene
- Ecdysone receptor
- Ectopia lentis
- Ectopic expression
- Ectopic ureter
- Edwards syndrome
- EEC syndrome
- Ef g
- Ef-g
- EF-Ts
- EF-Tu
- Efnb1
- Egg lecithin
- eIF2
- EIF2B
- eIF4E
- Electrical mobility
- Electropherogram
- Electrophoresis
- Electrophoretic mobility
- Ellis-Van Creveld syndrome
- Elongation
- Elongation factor G
- Elongation factor Tu
- Elongation factors
- Emberger syndrome
- Embryonic induction
- Emigration
- Emopamil binding protein
- Endocardial fibroelastosis
- Enhanceosome
- Enhancer trap
- Enhancers
- Entropion
- Environmental DNA
- Enzyme deficiency
- Enzyme kinetics
- Enzyme substrate
- EP300
- Epidermal differentiation complex
- Epigenetic code
- Epigenetic therapy
- Epigenetics
- Epigenome
- Epigenome editing
- Epigenome-wide association study
- Epigenomics
- Epimutation
- Epispadias
- Epistasis
- Epitranscriptomics
- eQTL
- ERAP2
- ERG3
- Essential fructosuria
- Essential genes
- EST
- ETHE1
- Ethylmalonic encephalopathy
- Euchromatin
- Eukaryotic DNA replication
- Eukaryotic initiation factor
- Eukaryotic initiation factor 3
- Eukaryotic initiation factor 4F
- Eukaryotic translation
- Excision repair
- Excision repair cross-complementing
- Exogenous DNA
- Exome
- Exon
- Exon junction complex
- Exon shuffling
- Exon skipping
- Exon trapping
- Exons
- Exosome complex
- Exosomes
- Expressed sequence tags
- Expression cassette
- Expression cloning
- External ophthalmoplegia
- External transcribed spacer
- Extrachromosomal circular DNA
- Extrachromosomal DNA
- Eye color
- Ezh2 gene
- F1 hybrids
- Fabry disease
- Fabry's disease
- FAD
- FADH
- Falconer's formula
- FAM46C
- Familial dysautonomia
- Familial hypercholesterolemia
- Familial hypocalciuric hypercalcemia
- Family aggregation
- Family history
- Fanconi anemia
- Farber disease
- Fatty acyl CoA
- Feingold syndrome
- Felty's syndrome
- Fetus in fetu
- FG syndrome
- FGR
- Firmicutes
- Flow-FISH
- FMR1
- Focal adhesion kinase
- FOP
- Forensic DNA analysis
- Forward genetics
- FOX proteins
- FOXA1
- FOXA3
- FOXc1
- FOXC2
- FOXE1
- FOXF1
- FOXG1
- FOXI1
- FOXL2
- FOXM1
- FOXN1
- FOXN3
- FOXO1
- FOXO3
- FOXO4
- FOXO6
- FOXP1
- FOXP2
- FOXP3
- Fragile sites
- Fragile X syndrome
- Frameshift mutations
- Frank-Ter Haar syndrome
- Fraser syndrome
- Free-flow electrophoresis
- Freeman Sheldon Syndrome
- Freeman-Sheldon syndrome
- Frontonasal dysplasia
- Fruitless
- Fumarase deficiency
- Fusion genes
- Fusion transcript
- FYN
- G banding
- G protein-coupled receptor kinase
- G-quadruplexes
- Gain of function mutation
- Gametes
- Gangliosidoses
- Gangliosidosis
- Gapmer
- Gastroschisis
- GATA2 deficiency
- Gaucher disease
- Gaucher's disease
- GC content
- Gene activation
- Gene amplification
- Gene cassettes
- Gene control
- Gene conversion
- Gene deletion
- Gene deserts
- Gene doping
- Gene dosage
- Gene drive
- Gene duplication
- Gene expression
- Gene Expression Omnibus
- Gene expression profiling
- Gene frequency
- Gene insertion
- Gene interaction
- Gene knock-in
- Gene knockdown
- Gene knockout
- Gene location
- Gene locus
- Gene mapping
- Gene mutation
- Gene orders
- Gene pool
- Gene products
- Gene redundancy
- Gene regulation
- Gene regulatory networks
- Gene repression
- Gene signature
- Gene silencing
- Gene structure
- Gene targeting
- Gene therapy
- Genetic analysis
- Genetic architecture
- Genetic association
- Genetic code
- Genetic complementation
- Genetic correlation
- Genetic counselling
- Genetic diseases
- Genetic disorders
- Genetic distance
- Genetic diversity
- Genetic equilibrium
- Genetic erosion
- Genetic exceptionalism
- Genetic genealogy
- Genetic heterogeneity
- Genetic imbalance
- Genetic imprinting
- Genetic interaction
- Genetic linkage
- Genetic load
- Genetic mapping
- Genetic markers
- Genetic polymorphism
- Genetic predisposition
- Genetic predisposition to disease
- Genetic privacy
- Genetic recombination
- Genetic reductionism
- Genetic resources
- Genetic screen
- Genetic structure
- Genetic testing
- Genetic translocation
- Genetically modified animal
- Genetically modified organism
- Genetically modified organisms
- Genetically modified plants
- Genocopy
- Genome
- Genome annotation
- Genome engineering
- Genome evolution
- Genome instability
- Genome sequencing
- Genome size
- Genome-wide complex trait analysis
- Genome-wide significance
- Genomic control
- Genomic DNA
- Genomic imprinting
- Genomic instability
- Genomic library
- Genomic signature
- Genomics
- Genotoxic
- Genotoxicity
- Genotype
- Genotype frequency
- Genotype-first approach
- Genotyping
- Germ line gene therapy
- Germline mosaicism
- Germline mutations
- GFRα
- Giant axonal neuropathy
- GINA
- Gitelman syndrome
- Glanzmann's thrombasthenia
- GLD-2
- Glucocorticoid receptor
- Glucose-galactose malabsorption
- Glucosepane
- GLUT1 deficiency
- Glycerophospholipids
- Glycine encephalopathy
- Glycogen storage disease type I
- Glycogen storage disease type II
- Glycogen storage disease type V
- Glypiation
- GM1 gangliosidoses
- GM1 gangliosidosis
- Gnotobiosis
- GNPTG
- Goldenhar syndrome
- Gordon syndrome
- Gorlin syndrome
- Gray platelet syndrome
- GrpE
- Guanine
- Guanosine monophosphate
- Guanylate cyclase
- Guanylate cyclase 2C
- Gucy2c
- Guide RNA
- Gyrase
- H syndrome
- H19
- H2AFX
- H3K14ac
- H3K27ac
- H3K27me3
- H3K36me
- H3K36me2
- H3K36me3
- H3K4me1
- H3K4me3
- H3K56ac
- H3K9ac
- H3K9me2
- H3K9me3
- H4K12ac
- H4K16ac
- H4K20me
- H4K5ac
- H4K8ac
- Hairpin ribozyme
- Hallermann Streiff Syndrome
- Hallermann-Streiff syndrome
- Hammerhead ribozyme
- Hand-foot-genital syndrome
- Hanhart syndrome
- Haplogroups
- Haploid cell
- Haploidy
- Haploinsufficiency
- Haplotype
- Haplotype block
- Haplotype estimation
- Haplotypes
- Hardy-Weinberg principle
- Hayflick limit
- HCK
- HCP5
- Heat shock proteins
- Heavy strand
- Helicase
- Helices
- Hemifacial microsomia
- Hemizygosity
- Hemophagocytic lymphohistiocytosis
- Heptad repeat
- Hereditary diseases
- Hereditary elliptocytosis
- Hereditary multiple exostoses
- Hereditary pyropoikilocytosis
- Hereditary spastic paraplegia
- Hereditary spherocytosis
- Heredity
- Heterochromatin
- Heteroduplex
- Heterogametic sex
- Heteroplasmy
- Heterosis
- Heterotaxy
- Heterotaxy syndrome
- Heterotopia
- Heterotopic
- Heterozygosity
- Heterozygote
- Hexaploidy
- HFE
- HFE gene
- Hi-C
- High cholesterol
- High mobility group
- High throughput sequencing
- High-mobility group
- Hill coefficient
- Histone code
- Histone methylation
- Histone modification
- Histone-modifying enzymes
- Histones
- HLA DR2
- HLA DR3
- HLA DR4
- HLA DR7
- HLA-A
- HLA-DP
- HLA-DQ
- HLA-DR
- HLA-DR1
- HLA-DR11
- HLA-DR12
- HLA-DR13
- HLA-DR14
- HLA-DR15
- HLA-DR17
- HLA-DR5
- HLA-DR52
- HLA-DR53
- HLA-DR9
- HLA-DRB3
- HMG-CoA
- HNRNPK
- Holliday junctions
- Holt-Oram syndrome
- Homeosis
- Homeotic genes
- Homocystinuria
- Homologous chromosomes
- Homologous recombination
- Homology
- Homology directed repair
- Homoplasmy
- Homoplasy
- Homozygous
- Homozygous familial hypercholesterolemia
- Hormone response element
- Horseshoe kidney
- Housekeeping genes
- Hoyeraal-Hreidarsson syndrome
- HpaII
- Hsp104
- Hsp20
- Hsp27
- Hsp70
- Hsp90
- HSPA1A
- HSPA1B
- HSPA1L
- HSPA2
- HSPA8
- HSPB6
- Human chromosome
- Human epigenome
- Human genome
- Human interactome
- Human-animal hybrid
- Hunter syndrome
- Hurler syndrome
- Hurler-Scheie syndrome
- Hydrolethalus syndrome
- Hydroxylase
- Hydroxylation
- Hyper IgM syndrome
- Hypercholesterolemia
- Hyperchromicity
- Hyperglycerolemia
- Hypersensitive sites
- Hypervariable regions
- Hypoalphalipoproteinemia
- Hypochondroplasia
- Hypophosphatasia
- Hypoplastic kidneys
- Hypospadias
- Identity by descent
- IF1
- IL17RD
- Illegitimate recombination
- Imaging genetics
- IMGT
- Immediate early gene
- Immunogenetics
- Imperforate hymen
- Imputation
- Inactivation
- Inborn errors of immunity
- Inborn errors of metabolism
- Incomplete dominance
- Incontinentia pigmenti
- Indels
- Infantile neuroaxonal dystrophy
- Infantile refsum disease
- Inheritance
- Initiation factors
- Insertional mutagenesis
- Insulators
- Intergenic region
- Internal migration
- Interspersed repeat
- Introgression
- Intron
- Inverted repeats
- Iodothyronine deiodinase
- Iontophoresis
- IPEX syndrome
- IRES
- Iron response element
- Irvine-Gass syndrome
- Ischiopagi
- Isochromosome
- Isodisomy
- Isotachophoresis
- ITK
- Ivemark syndrome
- Jacobsen syndrome
- JAK1
- JAK3
- Janus kinase 1
- Janus kinase 3
- Jeune syndrome
- Joubert syndrome
- Junk DNA
- Kabuki syndrome
- Kartagener syndrome
- Karyotype
- Karyotyping
- kcat
- kcat km
- KCNQ1OT1
- Kearns-Sayre Syndrome
- Keratoglobus
- KIR2DS1
- Kleefstra syndrome
- Klenow fragment
- Klinefelter syndrome
- Kniest dysplasia
- Knobloch syndrome
- Knockout gene
- Kozak consensus sequence
- Kruppel-like factors
- Lambl's excrescences
- Laron syndrome
- Larsen syndrome
- Laryngeal cleft
- Laryngomalacia
- Laurence-Moon syndrome
- LCK
- Leafy
- Legius syndrome
- Lens dislocation
- Lens subluxation
- Leopard syndrome
- Lesch Nyhan Syndrome
- Lesch-Nyhan syndrome
- Letterer-Siwe disease
- Leucine zipper
- Leukocyte adhesion deficiency
- Leukocyte adhesion deficiency-1
- Levocardia
- Liddle syndrome
- Liddle's syndrome
- LIG4
- LINE
- Lineweaver-Burk plot
- Lingual thyroid
- Linkage analysis
- Linked
- Linker DNA
- Liver X receptor
- Locked nucleic acid
- Locus control region
- Locus heterogeneity
- Lod score
- Long non-coding RNAs
- Long noncoding RNA
- Long terminal repeats
- Loss of function mutation
- Loss of heterozygosity
- Low copy repeats
- Lowe syndrome
- LRBA deficiency
- LTR retrotransposons
- LUCA
- Lujan-Fryns syndrome
- LYN
- Lysobisphosphatidic acid
- Lysophosphatidylethanolamine
- Lysosomal storage disease
- LZTFL1
- MA plot
- Macro domain
- Macrosatellite
- Macrostomia
- Mad2
- Maffucci syndrome
- Major gene
- MALAT1
- MALBAC
- Male pseudohermaphroditism
- MAP kinase kinase kinase
- MAPKK
- Maple syrup urine disease
- Marfan syndrome
- Marfanoid
- Marker chromosome
- Marker gene
- Marker-assisted selection
- Maroteaux-Lamy syndrome
- Marshall syndrome
- Maspin
- MASS syndrome
- Maternal inheritance
- Mating-type locus
- Maximum parsimony
- MBD1
- McArdle's disease
- McKusick-Kaufman syndrome
- Meckel syndrome
- Meckel-Gruber syndrome
- MECP2
- MECP2 duplication syndrome
- Medicago truncatula
- Medical geneticist
- Medullary cystic disease
- Medullary cystic kidney disease
- Medullary sponge kidney
- MEG3
- MEG8
- Megalocornea
- Meiosis
- Meiotic recombination
- MEK
- Melnick-Needles syndrome
- Melorheostosis
- Melting temperature
- Mendelian inheritance
- Messenger RNA
- Metabolic imprinting
- Metaphyseal dysplasia
- Methylation
- Methylenetetrahydrofolate reductase deficiency
- Methylmalonyl coa
- Mevalonate kinase deficiency
- MHC class I
- MHC class II
- Michaelis constant
- Michaelis-Menten equation
- Micro syndrome
- Microdeletion syndrome
- Micronucleus test
- Micropenis
- Microphthalmia
- MicroRNA
- Microsatellite DNA
- Microsatellites
- Microspherophakia
- Microstomia
- Midparent
- Miller syndrome
- Minichromosome maintenance
- Minicircles
- Minisatellite
- Minor allele frequency
- Minor physical anomalies
- Minor spliceosome
- MiR-122
- Mir-145
- MiR-155
- Mir-375
- miRNAs
- Mirtron
- Missense mutations
- Mitochondrial DNA
- Mitochondrial DNA depletion syndrome
- Mitochondrial Eve
- Mitochondrial fission
- Mitochondrial genome
- Mitochondrial inheritance
- Mitochondrial neurogastrointestinal encephalomyopathy
- Mitochondrial trifunctional protein deficiency
- Mitotic recombination
- Mixed gonadal dysgenesis
- MMEJ
- MNGIE syndrome
- Mobile elements
- Mobilome
- Modal haplotype
- Model organisms
- Modifications
- Modifier genes
- Moebius syndrome
- Molecular clock
- Molecular cloning
- Molecular cytogenetics
- Molecular genetics
- Molecular markers
- Molecular phenotyping
- Molecular phylogeny
- Monogenic disorder
- MonoMAC
- Monopartite
- Monophyly
- Monosomy
- Morpholino
- Morquio syndrome
- Mosaicism
- Most recent common ancestor
- Mowat-Wilson syndrome
- MPC1
- MSH6
- MT-RNR1
- MTHFR deficiency
- Mucolipidosis type IV
- Mucopolysaccharidosis
- Mucopolysaccharidosis type I
- Muenke syndrome
- Mullerian anomalies
- Multicystic dysplastic kidney
- Multifactorial inheritance
- Multipartite
- Multiple abnormalities
- Multiple cloning site
- Multiple loci VNTR analysis
- MURCS association
- Muscle-eye-brain disease
- Mutagenesis
- Mutanome
- Mutants
- Mutation rate
- Mutations
- MutationTaster
- Myelokathexis
- Myeloperoxidase deficiency
- MYL2
- Myogenin
- Myristoylation
- Nager syndrome
- Nail-patella syndrome
- Naked DNA
- Nance-Horan syndrome
- Nanoemulsion
- NCOA1
- NCOA3
- NCOA4
- Neighbor Joining
- Neofunctionalization
- Nephronophthisis
- Neu-Laxova syndrome
- Neuroacanthocytosis
- Neurocristopathy
- Neurocutaneous melanosis
- Neurofibromatosis type 1
- Neurogenetics
- Neuronal ceroid lipofuscinosis
- Neutral mutation
- Next generation sequencing
- Next-generation sequencing
- Nicotinamide mononucleotide
- Niemann-Pick disease
- Niemann-Pick disease type C
- Nijmegen breakage syndrome
- Nitrogenous bases
- NOD mice
- Non homologous end joining
- Non-allelic homologous recombination
- Non-coding RNA
- Non-coding RNAs
- Non-histone protein
- Non-homologous end joining
- Noncoding DNA
- Nondisjunction
- Nonreciprocal translocation
- Nonsense mediated decay
- Nonsense mutations
- Nonsense suppressor
- Noonan syndrome
- Norrie disease
- North Carolina macular dystrophy
- North Sea progressive myoclonus epilepsy
- NPM1
- NPR1
- NPR2
- NRIP1
- NRON
- NSP1
- Nuclear DNA
- Nuclear receptor corepressor
- Nuclear receptors
- Nuclear run-on
- Nucleic acid
- Nucleic acid hybridization
- Nucleic acids
- Nucleobases
- Nucleoside triphosphate
- Nucleotide excision repair
- Nucleotide salvage
- Nucleotide sequence
- Nucleotides
- Null alleles
- Nutrigenomics
- Nutritional genomics
- O-linked glycosylation
- Obligate carrier
- OCA1
- Occipital horn syndrome
- Oculodentodigital dysplasia
- Oguchi disease
- Okazaki fragments
- Oligogenic inheritance
- Oligonucleotide probes
- Oligonucleotide synthesis
- Oligonucleotides
- Omega loop
- Omics
- Omphalocele
- Oncomouse
- Oogenesis
- Open reading frame
- Open reading frames
- Operons
- Origin of replication
- Ornithine transcarbamylase deficiency
- Orofaciodigital syndrome
- Orotic aciduria
- Osteopetrosis
- Otospondylomegaepiphyseal dysplasia
- OTU
- Overdominance
- Overlapping genes
- P site
- P1-derived artificial chromosome
- p16
- p21
- P50
- P70-S6 Kinase 1
- Pachytene
- Pallister-Killian syndrome
- Palmitoyl CoA
- Papillary fibroelastoma
- Paracentric inversions
- Paratransgenesis
- Paris-Trousseau syndrome
- ParM
- Partial androgen insensitivity syndrome
- Patau syndrome
- Patau's syndrome
- Paternal age
- Pathogenicity islands
- PCA3
- PCAF
- PCNA
- PDK1
- Pdpk1
- Peanut agglutinin
- Pearson syndrome
- Pedigree
- Pelger-Huet anomaly
- Pelizaeus-Merzbacher disease
- PELP-1
- PELP1
- Pelvic kidney
- Pendred syndrome
- Penetrance
- Penile agenesis
- Penoscrotal transposition
- Pentalogy of Cantrell
- Perisylvian syndrome
- Persistent hyperplastic primary vitreous
- Persistent mullerian duct syndrome
- Peters-plus syndrome
- Peutz-Jeghers syndrome
- Pfeiffer syndrome
- Pfu DNA polymerase
- PGC-1α
- Phene
- Phenocopy
- Phenome
- Phenotype
- Phenotype modification
- Phenotypic heterogeneity
- Phenotypic trait
- Phenotypic variation
- Phocomelia
- Phosphatidylcholine
- Phosphatidylethanol
- Phosphatidylethanolamine
- Phosphatidylglycerol
- Phosphatidylinositol
- Phosphatidylinositol 3-phosphate
- Phosphatidylinositol 4-phosphate
- Phosphatidylserine
- Phospholipids
- Phosphorylase kinase
- Phosphorylcholine
- Photolyase
- Phylogenesis
- Phylogenetic relationship
- Phylogenetic tree
- Phylogenetics
- Phylogenomics
- Phylogeny
- Phytosome
- Pierre Robin sequence
- Pierre Robin syndrome
- Pigment dispersing factor
- PIK3CA-related overgrowth spectrum
- Piwi interacting RNA
- Plasmalogen
- Plasmalogens
- Pleiotropy
- Ploidy
- PNA
- Point mutations
- Poland syndrome
- Polar body biopsy
- POLG
- Poly(a)-binding protein
- Polyadenylation
- Polycoria
- Polycystic kidney disease
- Polycystic liver disease
- Polycystin 1
- Polycystin 2
- Polygenic
- Polygenic inheritance
- Polyglutamine
- Polyglutamylation
- Polyglycylation
- Polyphenism
- Polyploidy
- Polyprotein
- Polypyrimidine tract
- Polyribosomes
- Polysomes
- Polysomy
- Polytene chromosomes
- Polytomy
- Pompe disease
- Ponseti method
- Population genomics
- Porencephaly
- Porphyria cutanea tarda
- Position effect
- Post-transcriptional regulation
- Post-translational modifications
- Post-translational regulation
- Posterior urethral valve
- Posterior urethral valves
- Postreplication repair
- Posttranslational modification
- Postzygotic mutation
- PPAR
- PPARGC1A
- Prader-Willi syndrome
- Pre-replication complex
- Precursor mRNA
- Pregnane X receptor
- Premature chromosome condensation
- Premutation
- Preribosomal RNA
- Primary carnitine deficiency
- Primary ciliary dyskinesia
- Primary transcripts
- Primer binding site
- Primer extension
- Primordial dwarfism
- PrimPol
- Proband
- Probes
- Progressive cardiac conduction defect
- Prohibitin
- Proline dehydrogenase
- Promoter activity
- Promoters
- Promyelocytic leukemia protein
- Pronuclear
- Prophase
- Propionylation
- Protein C inhibitor
- Protein carbonylation
- Protein cleavage
- Protein degradation
- Protein kinase
- Protein kinase G
- Protein kinases
- Protein methylation
- Protein motif
- Protein production
- Protein subfamily
- Protein synthesis
- Protein translocation
- Protein transport
- Protein turnover
- Proteoform
- Proteolysis
- Proteus syndrome
- PRPF31
- PRPF8
- Prune Belly Syndrome
- Pseudoachondroplasia
- Pseudoautosomal region
- Pseudodominance
- Pseudogenes
- Pseudohermaphroditism
- Pseudohypoaldosteronism
- Pseudohypoparathyroidism
- Pseudoknots
- Pseudopseudohypoparathyroidism
- Pseudoxanthoma elasticum
- PTK2B
- Ptosis
- Pulmonary hypoplasia
- Pulmonary sequestration
- Pulsed-field gel electrophoresis
- Punnett square
- Purifying selection
- Pycnodysostosis
- Pyrimidine dimers
- Pyropoikilocytosis
- Pyruvate carboxylase deficiency
- Q-FISH
- QTL
- Queuine
- R-banding
- R-loops
- Rabson-Mendenhall syndrome
- RAD51
- Random hexamer
- Rare variants
- RASGRP1
- RASopathy
- Reading frame
- Recessive gene
- Recessive genes
- Reciprocal cross
- Reciprocal translocation
- Recognition sequence
- Recombinant DNA
- Recombinant DNA technology
- Recombinant gene
- Recombinant proteins
- Recombinase
- Recombinases
- Recombination
- Recombination hotspots
- Recombination repair
- Recombineering
- Recoverin
- Rectovaginal fistula
- Reeler
- Reference genome
- RefSeq
- Refsum disease
- Regulator
- Regulator gene
- Regulator protein
- Regulatory DNA sequences
- Regulatory sequences
- Renal hypoplasia
- Repetitive DNA
- Replication factor C
- Replication protein A
- Replisome
- Representational Difference Analysis
- Repressor proteins
- Repressors
- Reproductive fitness
- Reprogramming
- Resistance mutation
- Restriction digest
- Restriction maps
- Restriction sites
- Reticular dysgenesis
- Retinoblastoma protein
- Retrotransposons
- Retroviridae
- Retroviruses
- Rev-Erb
- Rev-erba
- Reverse genetics
- Reverse transcriptase
- Ribonucleic acid
- Ribonucleotides
- Riboprobe
- Riboregulators
- Ribosomal DNA
- Ribosomal frameshift
- Ribosomal protein S6
- Ribosomal proteins
- Ribosomal RNA
- Ribosome profiling
- Ribosomes
- Ribosomopathy
- Riboswitches
- Ribotyping
- Ribozymes
- Rieger syndrome
- RING finger domain
- RMRP
- RNA
- RNA activation
- RNA dependent RNA polymerase
- RNA editing
- RNA interference
- RNA modification
- RNA polymerase
- RNA polymerase III
- RNA probe
- RNA replication
- RNA sequencing
- RNA silencing
- RNA spike-in
- RNA splicing
- RNA therapeutics
- RNA vaccines
- RNA viruses
- RNA world
- RNA-dependent RNA polymerase
- RNA-induced silencing complex
- RNA-induced transcriptional silencing
- RNA-OUT
- RNA-seq
- RNAi
- RNAIII
- RNase MRP
- RNase P
- RNF125
- RNF20
- RNF213
- RNF216
- RNF41
- RNF7
- RNF8
- RNR1
- Roberts syndrome
- Robertsonian translocation
- Robinow syndrome
- Rolling circle replication
- Rothmund-Thomson syndrome
- RpoB
- RPS6
- RPTOR
- rRNA
- RTL1
- Rubinstein-Taybi syndrome
- S-Glutathionylation
- Sacral agenesis
- Saethre-Chotzen syndrome
- Sandhoff disease
- Sanfilippo syndrome
- SaPI
- SaRNA
- Satellite DNA
- Saturation mutagenesis
- Scheie syndrome
- Sclerosteosis
- SDHAF2
- SDHD
- SDS-PAGE
- Seckel syndrome
- Seed production
- Selectable markers
- Selenoproteins
- Selfish genetic elements
- Semiconservative replication
- Senior-Løken syndrome
- Sense strand
- SEPN1
- SEPP1
- Sequences
- Serpin
- SERPINB3
- SERPINB9
- Serpins
- Sertoli cell-only syndrome
- Severe combined immunodeficiency
- Severe congenital neutropenia
- Sex chromosomes
- Sex linkage
- Shadow effect
- SHANK3
- Shine-Dalgarno sequence
- Short hairpin RNA
- Short interspersed nuclear element
- SHORT syndrome
- Short tandem repeats
- Shwachman-Diamond syndrome
- Sigma factor
- Signal peptides
- Signal recognition particle RNA
- Signature-tagged mutagenesis
- Silencers
- Silent mutations
- Silver Russell Syndrome
- Silver staining
- Silver-Russell syndrome
- Simple sequence repeat
- Simpson-Golabi-Behmel syndrome
- Single gene disorder
- Single nucleotide polymorphism
- Single stranded DNA
- single stranded DNA virus
- Single stranded RNA
- Sirenomelia
- siRNAs
- Sister chromatid
- Sister chromatid exchange
- Sister chromatids
- Site directed mutagenesis
- Sitosterolemia
- Situs inversus
- Skewed X-inactivation
- Slipped strand mispairing
- SLX4
- Sly syndrome
- Small heterodimer partner
- Small interfering RNA
- Small nuclear ribonucleoprotein
- Small nuclear RNA
- Small nucleolar RNA
- Small ribosomal subunit
- Small RNAs
- Small subunit ribosomal RNA
- Smith Lemli Opitz Syndrome
- Smith Magenis Syndrome
- Smith-Lemli-Opitz Syndrome
- Smith-Magenis syndrome
- SNRNP
- Solenoid
- Soluble guanylate cyclase
- Soluble guanylyl cyclase
- Somatic gene therapy
- Somatic mutations
- Somatic recombination
- Sorsby's fundus dystrophy
- SOS response
- South Asians
- Spacer DNA
- Spastic paraplegia
- Specificity constant
- SPG15
- Sphingomyelin
- Spinal and bulbar muscular atrophy
- Spinocerebellar ataxia
- Splice site mutations
- Spliceosome
- Splicing
- Spontaneous mutation
- Sports
- SprD
- SRA
- ST14
- STAG3
- Start codon
- Statistical genetics
- Stem loops
- Stickler syndrome
- Stop codons
- STR analysis
- Strimvelis
- Structural genes
- Structural variation
- Subclades
- Subgenomic mRNA
- Subglottic stenosis
- Substrate
- Substrate analog
- Substrate reduction therapy
- Subtelomere
- Succinylation
- Sugar phosphate
- Sulfation
- SULT2A1
- Sumoylation
- Sweat test
- Swedish mutation
- SYK
- Synaptic tagging
- Synaptonemal complex
- Synonymous substitutions
- Synthesis-dependent strand annealing
- Synthetic genomes
- Synthetic lethality
- T7 RNA polymerase
- TALEN
- Tandem repeats
- Tangier disease
- Taq polymerase
- TaqI
- TaqMan
- TAR DNA-binding protein 43
- TAR syndrome
- Tay-Sachs disease
- TCF21
- TEC
- Telomere
- Telomere shortening
- Telomeres
- Termination signal
- TET enzymes
- Tetrahymena
- Tetraploidy
- Tetrasomy
- TFIIA
- TFIIB
- TFIID
- TFIIH
- TGF-β
- THADA
- Thalassiosira pseudonana
- Thanatophoric dwarfism
- Thanatophoric dysplasia
- Thermal cycler
- Thioinosinic acid
- Thymidine monophosphate
- Thymine
- Thymine dimers
- Thyroid dysgenesis
- Thyroid hormone receptor
- TMEM127
- TMPRSS6
- Tobacco mosaic virus
- Topoisomerase
- TORCH syndrome
- Torsion
- Torsion dystonia
- Toxicogenomics
- Tracheal agenesis
- Tracheobronchomalacia
- Tracheobronchomegaly
- Tracheomalacia
- Trans splicing
- Transcription bubble
- Transcription factor II A
- Transcription factor II H
- Transcription factors
- Transcription regulation
- Transcription termination
- Transcription-translation coupling
- Transcriptional noise
- Transcriptome
- Transfer RNA
- Transformation efficiency
- Transforming growth factor beta
- Transgenes
- Transgenic
- Transgenic animals
- Transgenic mouse
- Transgenic organisms
- Transient expression
- Transition
- Transition state analogs
- Translation initiation
- Translational regulation
- Translesion synthesis
- Transmission disequilibrium test
- Transposable elements
- Transposition
- Transposon sequencing
- Transposon tagging
- Transposons
- Transversions
- Trichothiodystrophy
- TRIM24
- TRIM28
- Trimethylaminuria
- Trinucleotide repeat expansion
- Triphalangeal thumb
- Triple A syndrome
- Triple helix
- Triple-A syndrome
- Triple-stranded DNA
- Triploidy
- Trisomic rescue
- Trisomy
- Trisomy 13
- Trisomy 16
- Trisomy 18
- Trisomy 21
- Trisomy 22
- Trisomy 8
- Trisomy 9
- Trithorax-group proteins
- True hermaphroditism
- Tumor mutational burden
- Turnover
- Turnover number
- Turns
- Twin registry
- TXNRD1
- Tyrosine hydroxylase deficiency
- Tyrosine kinases
- Tyrosine sulfation
- Ubiquitin ligase
- Ubiquitin ligases
- Uncompetitive inhibitor
- Unequal crossing over
- UniGene
- Uniparental disomy
- Untranslated regions
- Unverricht-Lundborg disease
- UPGMA
- Upstream activating sequence
- Upstream open reading frames
- Urachal fistula
- Uracil
- Usher syndrome
- Uterine malformation
- V600E
- VACTERL association
- Vaginal atresia
- Vaginal hypoplasia
- Van der Woude syndrome
- Variant of uncertain significance
- Vault RNA
- VAV3
- Velocardiofacial syndrome
- Verrucomicrobiota
- VHL
- Vici syndrome
- Viral RNA
- Vmax
- VNTR
- Von Hippel-Lindau disease
- Von Hippel-Lindau protein
- Von Willebrand disease
- Von Willebrand's disease
- WAGR syndrome
- Walker-Warburg syndrome
- Warburg Micro syndrome
- Warfarin resistance
- Warsaw breakage syndrome
- Weaver syndrome
- Webbed neck
- Weill-Marchesani syndrome
- Werner syndrome
- Whole genome sequencing
- Wild type
- Williams Beuren Syndrome
- Williams syndrome
- Wiskott-Aldrich Syndrome
- Wolf Hirschhorn Syndrome
- Wolf-Hirschhorn syndrome
- Wolman disease
- X chromosome
- X chromosome inactivation
- X inactivation
- X-linked dominant inheritance
- X-linked recessive inheritance
- XbaI
- XIST
- XX male
- XX male syndrome
- XXY
- XYY syndrome
- Y chromosome
- Y RNA
- Y STR
- YAP1
- Z-DNA
- Zap-70 deficiency
- ZAP70
- ZAP70 deficiency
- Zellweger syndrome
- ZFY
- Zimmermann-Laband syndrome
- Zygosity
- α-actinin
- α2-antiplasmin