Skip to main content

Table 6 Validation of annotations derived from minus-minus-rules

From: Methodology for the inference of gene function from phenotype data

Rule number

Gene

Phenotype terms included in rule

Implied GO term

  
  

MP 1+

MP 2+

MP 3 -

GO

p-value

Valid?

0

Esr1

absent mature ovarian follicles

postnatal growth retardation

abnormal female reproductive system morphology

ovarian follicle development

1.10E-31

yes

0

Tex12

absent mature ovarian follicles

postnatal growth retardation

abnormal female reproductive system morphology

ovarian follicle development

1.10E-31

no

0

Zglp1

absent mature ovarian follicles

postnatal growth retardation

abnormal female reproductive system morphology

ovarian follicle development

1.10E-31

no

0

Syce3

absent mature ovarian follicles

postnatal growth retardation

abnormal female reproductive system morphology

ovarian follicle development

1.10E-31

no

0

Gja1

absent mature ovarian follicles

postnatal growth retardation

abnormal female reproductive system morphology

ovarian follicle development

1.10E-31

yes

1

Stra8

absent mature ovarian follicles

postnatal growth retardation

decreased compact bone thickness

ovarian follicle development

1.15E-31

yes

8

Idua

abnormal lysosome morphology

decreased embryo size

abnormal neuron morphology

lysosome organization

1.91E-29

yes

8

Sort1

abnormal lysosome morphology

decreased embryo size

abnormal neuron morphology

lysosome organization

1.91E-29

yes

12

Zbtb20

abnormal hippocampus development

complete neonatal lethality

abnormal forebrain development

hippocampus development

5.56E-26

yes

15

Runx1

abnormal embryonic hematopoiesis

complete embryonic lethality during organogenesis

anemia

spongiotrophoblast layer development

2.53E-22

no

15

Pdgfrb

abnormal embryonic hematopoiesis

complete embryonic lethality during organogenesis

anemia

spongiotrophoblast layer development

2.53E-22

no

119

Jak2

polychromatophilia

partial postnatal lethality

increased lactate dehydrogenase level

erythrocyte differentiation

1.15E-11

no

120

Gjb2

abnormal mesenchyme morphology

embryonic growth retardation

internal hemorrhage

neural tube closure

1.82E-11

no

129

T

abnormal limb bud morphology

complete perinatal lethality

abnormal digit morphology

anterior/posterior pattern specification

2.93E-11

yes

140

Stk4

decreased spleen white pulp amount

postnatal growth retardation

arrested B cell differentiation

lymph node development

3.39E-11

no

173

Mapk7

abnormal head mesenchyme morphology

abnormal blood vessel morphology

abnormal heart tube morphology

neural tube closure

6.48E-11

no

188

Rtel1

enlarged allantois

no abnormal phenotype detected

small otic vesicle

gastrulation

1.67E-10

no

212

Smad4

abnormal proximal-distal axis patterning

embryonic growth arrest

failure to gastrulate

proximal/distal pattern formation

1.94E-10

no

219

Adam10

failure of vascular branching

embryonic growth retardation

enlarged pericardium

regulation of angiogenesis

2.53E-10

no

228

Rapgef2

abnormal embryonic hematopoiesis

complete embryonic lethality during organogenesis

abnormal liver morphology

spongiotrophoblast layer development

3.70E-10

no