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. 2023 Aug 14;225(2):iyad152. doi: 10.1093/genetics/iyad152

Table 3.

Comparison of number of genes annotated to phenotypes in downstream pathways.

ID Terma Lactate Glycolysis Acetyl-CoA
Phenotypes with more genes in the glucose to lactate pathway (anaerobic) than glucose to pyruvate
MP:0002447 Abnormal erythrocyte morphology 5 (5.24E−02) 4 (4.55E−02) 4 (1.51E−01)
MP:0002875 Decreased erythrocyte cell number 3 (3.71E−02) 2 (6.79E−02) 2 (1.51E−01)
MP:0000208 Decreased hematocrit 4 (4.21E−03) 3 (1.11E−03) 3 (3.37E−02)
MP:0005563 Abnormal hemoglobin content 4 (8.64E−03) 3 (1.74E−02) 3 (5.74E−02)
MP:0002874 Decreased hemoglobin content 3 (2.69E−02) 2 (5.21E−02) 2 (1.27E−01)
MP:0002590 Increased mean corpuscular volume 3 (2.03E−02) 2 (4.65E−02) 2 (1.07E−01)
MP:0013707 Abnormal hematopoietic precursor cell morphology 3 (3.82E−02) 2 (7.01E−02) 2 (1.51E−01)
MP:0001585 Hemolytic anemia 3 (4.06E−04) 2 (6.18E−03) 2 (1.74E−02)
MP:0002640 Reticulocytosis 4 (2.10E−04) 3 (1.94E−03) 3 (7.40E−03)
MP:0005344 Increased circulating bilirubin level 4 (7.85E−04) 3 (4.60E−03) 3 (1.69E−02)
MP:0000598 Abnormal liver morphology 6 (2.15E−02) 4 (4.65E−02) 4 (1.67E−01)
MP:0002221 Abnormal lymph organ size 5 (7.50E−02) 4 (4.82E−02) 4 (1.84E−01)
MP:0004952 Increased spleen weight 3 (2.15E−02) 2 (4.82E−02) 2 (1.12E−01)
MP:0012106 Impaired exercise endurance 2 (3.71E−02) 1 (1.11E−01) 1 (1.92E−01)
MP:0005584 Abnormal enzyme/coenzyme activity 4 (4.21E−03) 3 (1.11E−02) 3 (3.37E−02)
MP:0002942 Decreased circulating alanine transaminase level 2 (2.69E−02) 0 (NA) 0 (NA)
MP:0002943 Abnormal lactate dehydrogenase level 2 (2.32E−02) 1 (9.55E−02) 1 (1.66E−01)
Phenotypes with more genes in the glucose to acetyl-CoA pathway (aerobic) than glucose to pyruvate
MP:0030970 Ketosis 1 (1.44E−01) 1 (8.22E−02) 3 (2.23E−03)
MP:0002575 Increased circulating ketone body level 0 (NA) 0 (NA) 2 (1.74E−02)
MP:0003059 Decreased insulin secretion 2 (5.96E−02) 2 (3.76E−02) 3 (1.31E−02)
MP:0005293 Impaired glucose tolerance 3 (6.56E−02) 3 (2.78E−02) 5 (7.40E−03)
MP:0013403 Abnormal circulating lactate level 1 (1.37E−01) 1 (7.91E−02) 3 (2.23E−03)
MP:0013405 Increased circulating lactate level 0 (NA) 0 (NA) 2 (1.21E−02)
MP:0001325 Abnormal retina morphology 2 (3.08E−01) 2 (1.62E−01) 5 (3.20E−02)
MP:0003731 Abnormal retina outer nuclear layer morphology 2 (1.07E−01) 2 (4.93E−02) 3 (2.50E−02)
MP:0008931 Abnormal paraventricular thalamic nucleus morphology 0 (NA) 0 (NA) 1 (1.98E−02)
MP:0004079 Abnormal putamen morphology 0 (NA) 0 (NA) 1 (4.09E−02)
MP:0020554 Decreased stria medullaris size 0 (NA) 0 (NA) 1 (2.50E−02)
MP:0009976 Abnormal cerebellar peduncle morphology 0 (NA) 0 (NA) 1 (4.60E−02)
MP:0003984 Embryonic growth retardation 1 (4.79E−01) 1 (3.24E−01) 4 (3.20E−02)
Phenotypes with more genes in both the lactate/acetyl-CoA pathways than in glucose to pyruvate
MP:0000187 Abnormal triglyceride level 3 (1.00E−01) 2 (1.10E−01) 4 (4.09E−02)
MP:0005318 Decreased triglyceride level 2 (1.38E−01) 1 (2.20E−01) 3 (4.14E−02)
MP:0002078 Abnormal glucose homeostasis 4 (1.59E−01) 3 (1.16E−01) 7 (2.02E−02)
MP:0005291 Abnormal glucose tolerance 4 (3.98E−02) 3 (4.65E−02) 6 (7.40E−03)
MP:0001560 Abnormal circulating insulin level 3 (7.85E−02) 2 (9.49E−02) 4 (2.50E−02)
MP:0002727 Decreased circulating insulin level 3 (2.69E−02) 2 (5.22E−02) 3 (3.20E−02)
MP:0002080 Prenatal lethality 5 (1.59E−01) 3 (1.99E−01) 8 (2.60E−02)
MP:0005266 Abnormal metabolism 6 (4.14E−03) 4 (1.74E−02) 5 (2.50E−02)
MP:0010768 Mortality/aging 9 (1.57E−01) 7 (7.09E−02) 14 (1.31E−02)
MP:0010769 Abnormal survival 8 (1.74E−01) 6 (1.00E−01) 13 (1.63E−02)
MP:0008762 Embryonic lethality 4 (1.74E−01) 3 (1.34E−01) 8 (1.31E−02)
MP:0010770 Preweaning lethality 8 (1.35E−01) 3 (1.11E−01) 13 (7.40E−03)
MP:0011100 Preweaning lethality, complete penetrance 4 (1.57E−01) 3 (1.11E−01) 6 (4.60E−02)

If a parent MP term and its child were annotated to the same numbers of terms, only the child term is shown. For example, “abnormal insulin secretion” (parent—not shown) and “decreased insulin secretion” (child—shown) had 2,2,3 terms.