Biochemistry, Genetics and Molecular Biology
Missense
100%
Intellectual Disability
87%
Proband
71%
Allele
61%
IRF2
61%
Orthology
55%
Exome Sequencing
51%
Candidate Gene
41%
Cell Survival
41%
Actin
35%
Wild Type
33%
Human Genetics
30%
Cadherin
30%
Mitochondrial Fission
30%
Eye Development
30%
Gene Discovery
30%
Body Height
30%
Plasmid
30%
Adrenoleukodystrophy
30%
ABCD1
30%
CRISPR
30%
Transcription
30%
Cyclin-Dependent Kinase
30%
Binding Protein
30%
NS4A
30%
Lifespan
30%
Gain of Function Mutation
30%
Membrane Protein
30%
Transmembrane Protein
30%
Very Long Chain Fatty Acid
30%
Nerve Cell Differentiation
30%
RNA Interference
25%
Photoreceptor Cell
25%
Dendritic Spine
20%
Ectopic Expression
19%
Bioinformatics
19%
Genetics
17%
Phosphotransferase
15%
Kinase
15%
Developmental Stage
15%
Single-Stranded DNA
15%
Survival Rate
15%
Genotyping
15%
Morphogenesis
15%
Nucleosome
15%
RNA Polymerase II
15%
Neurite Outgrowth
15%
Cas9
15%
Intron
15%
Protein Complex
15%
Keyphrases
DNMBP
30%
Infantile Cataract
30%
IRF2BPL
30%
Sphingosine-1-phosphate
30%
Short Homology Arms
30%
IRF2
30%
FZR1
30%
Developmental Encephalopathy
30%
ABCD1
30%
Par Complex
30%
Affect Development
30%
ACOX1
30%
CDK19
30%
Drosophila Neuroblast
30%
ANKLE2
30%
Long-chain Polyunsaturated Fatty Acids (LC-PUFA)
30%
Neuroinflammation
30%
Epileptic Encephalopathy
30%
EMC1
30%
SUPT16H
30%
Homology Arm
20%
NS4A
20%
Ballchen
20%
VRK1
20%
Eye Degeneration
15%
Septate Junction
15%
Eye Tissues
15%
Consanguineous Population
15%
Schwannomin
15%
Career Focus
15%
Variant Function
15%
Variant Assessment
15%
Pan-neuronal
15%
Larval Stages
15%
Pupal Stage
15%
Biochemical Signatures
12%
T2A-GAL4
10%
Growth Cone Guidance
10%
Immature Morphology
10%
Instars Larvae
10%
Human References
10%
AMPA Receptor Trafficking
10%
Recessive Disease
10%
Glia
10%
Bazooka
10%
Alignment Defect
10%
L(2)gl
10%
LLGL1
10%
Nonsense Variant
7%
Frameshift Variant
7%
Neuroscience
CRISPR
46%
Neurodegeneration
30%
Double Stranded DNA
30%
Mitochondrial Fission
30%
Plasmid
30%
Glia
30%
Animal Models in Neurobiology
30%
IRF2
30%
Nervous System
30%
Phosphatidylserine Synthase
30%
Pervasive Developmental Disorder
30%
Hemocyte
30%
Autism
30%
Very Long Chain Fatty Acid
30%
In Vivo
20%
Kinase
15%
RNA Polymerase II
15%
Sphingolipid
15%
Sequence Homology
15%
Neurodegenerative Disorder
15%
Mitochondrion
15%
Sphingosine 1 Phosphate
15%
Ceramide
15%
Single Stranded DNA
15%
Cell Death
15%
Nervous System Disorder
15%
Intron
15%
Metabolic Pathway
15%
Parkinson's Disease
15%
Bezafibrate
6%