INSR and obesity due to melanocortin 4 receptor deficiency: These include: 1) neurological pathways (for example, Huntington’s disease, q = 7.7 × 10–5; axonal guidance, q = 3.0 × 10–4; and neuroinflammatory signalling, q = 5.0 × 10–2; Fig. 3a, Extended Data Fig. 4d); 2) metabolic pathways (for example, insulin receptor signalling, q = 9.1 × 10–3; leptin signalling in obesity, q = 2.9 × 10–2); and 3) cardiac hypertrophy (q = 2.5 × 10–2; Extended Data Fig. 4e, Supplementary Table 11).