Fig. 4
From: Dissecting the genetic basis of comorbid epilepsy phenotypes in neurodevelopmental disorders
Phenotypic enrichment of genes in modules while including the seed gene. Enrichment is defined (MP/MP′)/(GP/(19,986 − GP)), where MP is the number of genes annotated as a certain neurodevelopmental disorder (NDD) phenotype inside a module, MP′ is the complement of MP, and GP is the total number of genes annotated as a certain phenotype. The total number of genes in the human genome is 19,986 (Gencode GRCh38.p12). Increased enrichment of NDD with or without epilepsy for a module corresponds respectively to the presence or absence of epilepsy phenotypes associated with the seed gene. Modules are grouped by evidence of epilepsy association of the seed genes—i.e., class 1 (strong), class 2 (moderate), and class 3 (weak association). a Increased enrichment of NDDs with epilepsy observed in class 1 modules are indicated by an increased y-intercept of class 1 regression line relative to class 2 and class 3. b Average enrichment of NDD with epilepsy is significantly greater in class 1 modules compared to class 2 or class 3 modules