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Table 5 Validation of annotations derived from plus-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 M1ap globozoospermia male infertility absent acrosome spermatogenesis 4.21E-39 yes
0 Ing2 globozoospermia male infertility absent acrosome spermatogenesis 4.21E-39 yes
1 Cdk16 abnormal sperm flagellum morphology male infertility teratozoospermia cilium morphogenesis 1.71E-28 yes
8 Adipor2 abnormal glucose homeostasis decreased circulating insulin level increased insulin sensitivity positive regulation of insulin secretion 1.49E-24 yes
10 Steap3 polychromatophilia decreased hemoglobin content anisocytosis skeletal system morphogenesis 4.46E-24 no
13 Ptges3 abnormal production of surfactant atelectasis cyanosis lung alveolus development 8.94E-24 yes
19 Mbl1 increased IgG2a level increased IgG1 level abnormal T cell physiology negative regulation of B cell proliferation 5.82E-23 no
47 Kat2a decreased body size exencephaly domed cranium neural tube closure 3.40E-20 yes
77 Siglec1 decreased tumor necrosis factor secretion decreased interleukin-6 secretion abnormal macrophage physiology cellular response to lipopolysaccharide 2.95E-19 yes
96 Chga dilated heart left ventricle heart left ventricle hypertrophy absent caveolae heart morphogenesis 1.56E-18 no
118 Mark3 improved glucose tolerance decreased circulating insulin level abnormal glucose homeostasis response to insulin 3.83E-18 no
124 Gpr64 kinked sperm flagellum teratozoospermia hairpin sperm flagellum fertilization 5.57E-18 no
139 Pick1 abnormal acrosome morphology asthenozoospermia absent acrosome spermatogenesis 8.55E-18 yes
153 Col2a1 abnormal long bone metaphysis morphology abnormal long bone epiphyseal plate proliferative zone protruding tongue bone morphogenesis 1.35E-17 yes
167 Odf1 male infertility impaired acrosome reaction impaired fertilization acrosome reaction 1.91E-17 yes
177 Cftr absent estrous cycle small ovary increased follicle stimulating hormone level spermatogenesis 2.26E-17 no
262 Zfpm1 abnormal common myeloid progenitor cell morphology extramedullary hematopoiesis decreased B cell number T cell differentiation 1.81E-16 no
309 Gpx4 abnormal sperm principal piece morphology male infertility abnormal sperm axoneme morphology spermatid development 5.38E-16 yes
331 Pank1 increased body weight hepatic steatosis abnormal abdominal fat pad morphology lipid metabolic process 7.25E-16 yes
391 Cd36 increased circulating triglyceride level abnormal glucose homeostasis insulin resistance glycogen metabolic process 2.72E-15 no