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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