Table 2.
Gene set enrichment analyses of the MGI Mammalian Phenotype Level 4 (2019) database identify mammalian phenotypes manifesting significant associations with neuro-regulatory human-specific SNC-linked genes. Top 40 of the 407 significant records are reported
| Mammalian phenotype | Overlap | p value | Adjusted p value |
|---|---|---|---|
| MP:0011087_neonatal_lethality,_complete_penetrance | 315/517 | 1.55E-18 | 8.15E-15 |
| MP:0001262_decreased_body_weight | 773/1471 | 2.04E-17 | 5.36E-14 |
| MP:0001405_impaired_coordination | 247/405 | 6.90E-15 | 1.21E-11 |
| MP:0011086_postnatal_lethality,_incomplete_penetrance | 362/643 | 9.65E-14 | 1.27E-10 |
| MP:0001463_abnormal_spatial_learning | 120/172 | 1.46E-13 | 1.54E-10 |
| MP:0002169_no_abnormal_phenotype_detected | 958/1944 | 6.87E-12 | 6.02E-09 |
| MP:0004811_abnormal_neuron_physiology | 78/107 | 8.69E-11 | 6.53E-08 |
| MP:0002206_abnormal_CNS_synaptic_transmission | 75/103 | 2.18E-10 | 1.27E-07 |
| MP:0000267_abnormal_heart_development | 111/168 | 2.43E-10 | 1.28E-07 |
| MP:0011085_postnatal_lethality,_complete_penetrance | 246/432 | 2.04E-10 | 1.34E-07 |
| MP:0011110_preweaning_lethality,_incomplete_penetrance | 360/669 | 2.90E-10 | 1.39E-07 |
| MP:0011109_lethality_throughout_fetal_growth_and_development,_incomplete_penetrance | 122/191 | 8.21E-10 | 3.60E-07 |
| MP:0001899_absent_long_term_depression | 27/28 | 1.11E-09 | 4.50E-07 |
| MP:0001732_postnatal_growth_retardation | 360/677 | 1.85E-09 | 6.48E-07 |
| MP:0001698_decreased_embryo_size | 293/537 | 2.09E-09 | 6.88E-07 |
| MP:0002152_abnormal_brain_morphology | 119/187 | 1.84E-09 | 6.92E-07 |
| MP:0011090_perinatal_lethality,_incomplete_penetrance | 154/256 | 3.23E-09 | 9.44E-07 |
| MP:0002741_small_olfactory_bulb | 35/40 | 3.07E-09 | 9.51E-07 |
| MP:0001469_abnormal_contextual_conditioning_behavior | 48/61 | 5.45E-09 | 1.43E-06 |
| MP:0001473_reduced_long_term_potentiation | 84/124 | 6.05E-09 | 1.45E-06 |
| MP:0000788_abnormal_cerebral_cortex_morphology | 104/161 | 5.79E-09 | 1.45E-06 |
| MP:0011088_neonatal_lethality,_incomplete_penetrance | 172/293 | 5.33E-09 | 1.48E-06 |
| MP:0001954_respiratory_distress | 121/194 | 7.90E-09 | 1.81E-06 |
| MP:0001575_cyanosis | 129/210 | 1.00E-08 | 2.19E-06 |
| MP:0001953_respiratory_failure | 103/161 | 1.47E-08 | 3.09E-06 |
| MP:0002906_increased_susceptibility_to_pharmacologically_induced_seizures | 70/101 | 2.60E-08 | 5.25E-06 |
| MP:0002910_abnormal_excitatory_postsynaptic_currents | 59/83 | 7.68E-08 | 1.50E-05 |
| MP:0002083_premature_death | 499/997 | 9.80E-08 | 1.84E-05 |
| MP:0002066_abnormal_motor_capabilities/coordination/movement | 102/164 | 1.41E-07 | 2.55E-05 |
| MP:0006254_thin_cerebral_cortex | 53/74 | 2.36E-07 | 4.14E-05 |
| MP:0011098_embryonic_lethality_during_organogenesis,_complete_penetrance | 339/656 | 2.60E-07 | 4.28E-05 |
| MP:0000807_abnormal_hippocampus_morphology | 63/92 | 2.56E-07 | 4.34E-05 |
| MP:0006009_abnormal_neuronal_migration | 59/85 | 2.94E-07 | 4.69E-05 |
| MP:0011108_embryonic_lethality_during_organogenesis,_incomplete_penetrance | 143/247 | 3.20E-07 | 4.95E-05 |
| MP:0000031_abnormal_cochlea_morphology | 44/59 | 3.84E-07 | 5.77E-05 |
| MP:0000852_small_cerebellum | 58/84 | 4.91E-07 | 7.17E-05 |
| MP:0002063_abnormal_learning/memory/conditioning | 42/56 | 5.43E-07 | 7.52E-05 |
| MP:0003633_abnormal_nervous_system_physiology | 79/123 | 5.36E-07 | 7.62E-05 |
| MP:0010025_decreased_total_body_fat_amount | 263/498 | 5.94E-07 | 8.01E-05 |
| MP:0009937_abnormal_neuron_differentiation | 75/116 | 7.01E-07 | 9.22E-05 |
Gene set enrichment analyses were performed employing the Enrichr bioinformatics platform (see “Methods”). All analyzed records are reported in the Supplemental Table Set S2. Overlap refers to the number of hsSNC-linked genes and mammalian phenotype–associated genes in corresponding categories. Italicized records highlight the classification categories defined as offspring survival phenotypes