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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.