Table 1. Association of phenotype ontology and gene ontology
Phenotype ontology termGeneP‐valueGene ontology functional annotationP‐value
SMN protein SMN1 5.50 × 10−15AbsentAbsent
Aβ protein PSEN1 6.66 × 10−14AbsentAbsent
Interferons UNC‐93‐B 9.33 × 10−14AbsentAbsent
TDP inclusions TDP‐43 9.63 × 10−14Formation of cytoplasmic inclusions6.02 × 10−4
Neurofilaments SOD1 4.79 × 10−10Formation of neurofilament inclusions1.09 × 10−4
Caspase‐4 APP 4.79 × 10−10AbsentAbsent
RNA foci C9ORF72 1.12 × 10−9AbsentAbsent
Motor neurons SOD1 3.31 × 10−9Neurodegeneration of motor neurons3.28 × 10−4
Glutamatergic neurons MeCP2 3.47 × 10−9AbsentAbsent
Binding immunoglobin protein APP 1.35 × 10−7AbsentAbsent
Cellular autophagy NPC1 3.23 × 10−7Autophagy1.66 × 10−2
Glutathione PINK1 4.50 × 10−7AbsentAbsent
ATP levels HTT 5.17 × 10−7Depletion of ATP2.74 × 10−4
Mitochondrial membrane PINK1 5.69 × 10−7Function of mitochondria7.66 × 10−4
Tau filaments APP 2.75 × 10−6Generation of tau filament1.09 × 10−4
Nuclear morphology LRRK2 1.16 × 10−5Organization of nuclear envelope4.38 × 10−4
Neural rosettes ATP7A 7.51 × 10−5AbsentAbsent
GABAergic neurons SCN1A 7.51 × 10−5AbsentAbsent
Lamin LRRK2 1.35 × 10−4AbsentAbsent
Aβ protein APP 1.85 × 10−4Aggregation of amyloid fibrils5.47 × 10−5
Alpha‐Synuclein SNCA 2.06 × 10−4AbsentAbsent
Increased susceptibility to chemical exposure LRRK2 4.13 × 10−4AbsentAbsent
Caspase‐3 activation LRRK2 4.57 × 10−4AbsentAbsent
Cellular autophagy GBA1 1.90 × 10−3AbsentAbsent
Motor neurons SMN1 2.85 × 10−3Loss of motor neurons2.74 × 10−4
  • Table comparing phenotype ontologies and gene ontology functional annotations with respective P‐values. If the phenotype ontology was not reported in the current gene ontology, it was termed “Absent”.