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Table 14 Top 100 terms shared by the MeSHOPs of PAX6 and aniridia

From: Inferring novel gene-disease associations using Medical Subject Heading Over-representation Profiles

Common MeSH term Gene MeSHOP P-value Disease MeSHOP P-value Score
DNA mutational analysis 0.00E+00 0.00E+00 0.00e+0
Pedigree 0.00E+00 0.00E+00 0.00e+0
Polymorphism, single-stranded conformational 1.40E-44 1.67E-42 1.66e-42
Humans 6.82E-24 0.00E+00 6.82e-24
Exons 8.53E-24 2.98E-23 2.13e-23
Mutation, missense 1.45E-23 9.72E-21 9.70e-21
Chromosomes, human, pair 11 2.73E-20 0.00E+00 2.73e-20
Codon, nonsense 1.15E-18 1.96E-21 1.15e-18
Cataract 2.37E-17 0.00E+00 2.37e-17
Point mutation 6.94E-17 7.02E-18 6.24e-17
Frameshift mutation 9.77E-15 2.11E-21 9.77e-15
DNA primers 5.27E-12 2.69E-15 5.27e-12
Fovea centralis 2.41E-16 6.03E-11 6.03e-11
Introns 5.01E-10 2.15E-13 5.01e-10
Nystagmus, congenital 9.55E-10 3.29E-11 9.22e-10
Genes, dominant 7.39E-09 2.45E-14 7.39e-9
Asian continental ancestry group 2.23E-16 1.07E-08 1.07e-8
Lens, crystalline 2.40E-08 5.62E-24 2.40e-8
Alternative splicing 6.14E-13 7.97E-08 7.97e-8
Corneal opacity 2.45E-06 1.47E-16 2.45e-6
Child, preschool 3.63E-06 3.08E-44 3.63e-6
Family health 1.03E-05 1.69E-07 1.01e-5
Gene expression regulation, developmental 2.46E-15 1.04E-05 1.04e-5
Genes, homeobox 1.40E-05 6.32E-09 1.40e-5
Adolescent 1.92E-05 1.71E-18 1.92e-5
Conserved sequence 6.20E-06 1.18E-04 1.12e-4
Heterozygote 1.15E-04 6.94E-08 1.15e-4
Radiation hybrid mapping 1.72E-05 1.50E-04 1.33e-4
Alleles 2.29E-04 4.17E-05 1.87e-4
Abnormalities, multiple 2.91E-04 0.00E+00 2.91e-4
Iris 3.45E-04 0.00E+00 3.45e-4
Blepharoptosis 4.54E-04 4.55E-08 4.53e-4
WAGR syndrome 5.13E-04 0.00E+00 5.13e-4
Tomography, optical coherence 1.14E-03 4.47E-04 6.97e-4
Corpus callosum 6.03E-07 9.38E-04 9.38e-4
Pregnancy 9.62E-01 9.60E-01 1.09e-3
Open reading frames 2.56E-10 1.12E-03 1.12e-3
Forkhead transcription factors 1.27E-03 1.95E-05 1.25e-3
Face 1.42E-03 3.94E-05 1.38e-3
Nucleic acid heteroduplexes 2.02E-04 1.73E-03 1.53e-3
In situ hybridization, fluorescence 1.61E-03 3.22E-29 1.61e-3
Gene deletion 1.65E-03 1.77E-21 1.65e-3
PAX9 transcription factor 8.46E-04 2.50E-03 1.66e-3
Proprotein convertase 1 1.71E-03 1.27E-05 1.69e-3
Ectopia lentis 1.81E-03 1.42E-05 1.79e-3
Albinism, ocular 1.86E-03 3.98E-14 1.86e-3
Databases, nucleic acid 3.09E-04 2.63E-03 2.32e-3
India 1.13E-04 2.79E-03 2.68e-3
Amino acid substitution 2.03E-06 3.07E-03 3.06e-3
Transcriptional activation 1.10E-23 3.22E-03 3.22e-3
Genetic markers 3.43E-03 1.71E-10 3.43e-3
Anophthalmos 5.77E-03 1.45E-04 5.63e-3
3' Untranslated regions 8.26E-06 5.66E-03 5.65e-3
Young adult 1.18E-02 4.91E-03 6.84e-3
Limbus corneae 7.58E-03 1.48E-18 7.58e-3
RNA, transfer, Lys 4.19E-03 1.23E-02 8.16e-3
Dna transposable elements 9.49E-03 9.94E-04 8.50e-3
Heteroduplex analysis 4.54E-03 1.34E-02 8.84e-3
Chromosome deletion 9.12E-03 0.00E+00 9.12e-3
Homozygote 1.09E-02 1.29E-03 9.57e-3
Otx transcription factors 5.70E-06 1.00E-02 9.99e-3
Genetic predisposition to disease 1.16E-02 8.84E-05 1.15e-2
Microphthalmos 1.17E-02 2.34E-12 1.17e-2
Vision, low 1.24E-02 6.65E-04 1.17e-2
Optic nerve 1.26E-02 5.64E-08 1.26e-2
Exotropia 7.21E-03 2.12E-02 1.40e-2
Cytosine 2.70E-03 2.15E-02 1.88e-2
Magnetic resonance imaging 4.92E-04 1.96E-02 1.92e-2
United States 9.81E-01 1.00E+00 1.93e-2
Trabecular meshwork 2.22E-02 2.11E-03 2.01e-2
Polymorphism, restriction fragment length 2.30E-02 7.12E-04 2.23e-2
Body patterning 3.32E-03 2.62E-02 2.29e-2
Dichotic listening tests 1.21E-02 3.55E-02 2.34e-2
Multigene family 2.46E-02 8.37E-04 2.38e-2
3T3 Cells 3.00E-06 2.67E-02 2.67e-2
Cognition disorders 4.77E-02 2.05E-02 2.72e-2
Esotropia 1.42E-02 4.14E-02 2.72e-2
Mutagenesis, insertional 4.08E-03 3.18E-02 2.77e-2
Endothelium, corneal 2.94E-02 1.06E-04 2.93e-2
Restriction mapping 3.25E-02 2.53E-06 3.25e-2
Thymine 4.15E-02 7.24E-03 3.43e-2
Sequence homology, amino acid 3.52E-02 3.31E-04 3.49e-2
Glutamine 5.38E-03 4.13E-02 3.59e-2
Chromosomes, human, pair 10 1.97E-02 5.72E-02 3.75e-2
Cytogenetics 3.86E-02 2.41E-04 3.84e-2
Nervous system malformations 5.11E-02 9.30E-02 4.18e-2
Organ specificity 2.36E-01 1.90E-01 4.62e-2
Catenins 6.22E-02 1.59E-02 4.63e-2
Genetic heterogeneity 2.45E-02 7.09E-02 4.64e-2
Brain-derived neurotrophic factor 5.07E-02 6.24E-07 5.07e-2
Chromosomes, human, pair 12 2.70E-02 7.77E-02 5.08e-2
Leucine zippers 1.64E-04 5.28E-02 5.26e-2
Verbal behavior 2.09E-01 1.53E-01 5.57e-2
Mice, transgenic 6.20E-02 5.89E-03 5.61e-2
Visual acuity 5.65E-02 0.00E+00 5.65e-2
DNA fingerprinting 9.30E-02 3.44E-02 5.85e-2
Sequence alignment 1.69E-02 7.59E-02 5.90e-2
Autistic disorder 9.48E-02 3.57E-02 5.91e-2
Fluorescent antibody technique, indirect 9.84E-02 3.83E-02 6.00e-2
Age factors 9.37E-01 9.97E-01 6.03e-2
  1. The top 50 most similar MeSH terms of the 235 MeSH terms shared by both the MeSHOP for aniridia and the MeSHOP for PAX6 are presented here. The P-value of the term in the gene MeSHOP and the disease MeSHOP are presented, and ordered by the difference in the two P-values.