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Table 4 Significantly Overrepresented Transamidase+Remodeling-Group Phenotypes

From: Significantly different clinical phenotypes associated with mutations in synthesis and transamidase+remodeling glycosylphosphatidylinositol (GPI)-anchor biosynthesis genes

HPO ID Term Name Synthesis Group (patients with phenotype/total) Synthesis Group (%) Transamidase+Remodeling Group (patients with phenotype/total) Transamidase+Remodeling Group (%) Corrected p-value
HP:0002360 Sleep disturbance 0/93 0.00 13/59 22.03 0.00047
HP:0012759 Neurodevelopmental abnormality 68/93 73.12 58/59 98.31 0.01235
HP:0000708 Behavioral abnormality 14/93 15.05 25/59 42.37 0.03610
HP:0012758 Neurodevelopmental delay 57/93 61.29 54/59 91.53 0.00898
HP:0001249 Intellectual disability 15/93 16.13 39/59 66.10 0.00000
HP:0003330 Abnormal bone structure 3/93 3.23 15/59 25.42 0.00773
HP:0011849 Abnormal bone ossification 2/93 2.15 15/59 25.42 0.00193
HP:0004348 Abnormality of bone mineral density 2/93 2.15 15/59 25.42 0.00193
HP:0004349 Reduced bone mineral density 2/93 2.15 15/59 25.42 0.00193
HP:0000938 Osteopenia 2/93 2.15 13/59 22.03 0.01305
HP:0000400 Macrotia 2/93 2.15 15/59 25.42 0.00193
HP:0002265 Large fleshy ears 1/93 1.08 14/59 23.73 0.00106
HP:0000366 Abnormality of the nose 26/93 27.96 36/59 61.02 0.01119
HP:0100737 Abnormal hard palate morphology 6/93 6.45 17/59 28.81 0.03743
HP:0000202 Oral cleft 6/93 6.45 18/59 30.51 0.01556
HP:0000175 Cleft palate 6/93 6.45 17/59 28.81 0.03743