| CR | Disease | Disease Type | DiseaseSemanticType | Score | Source |
|---|---|---|---|---|---|
| HUWE1 | Craniosynostosis | disease | Disease or Syndrome | 0.30 | DisGeNET |
| HUWE1 | Mental Retardation, X-Linked, Syndromic, Turner Type | disease | Disease or Syndrome | 0.70 | DisGeNET |
| HUWE1 | Mental Retardation, X-Linked 1 | disease | Disease or Syndrome | 0.30 | DisGeNET |
| HUWE1 | Intellectual Disability | group | Mental or Behavioral Dysfunction | 0.48 | DisGeNET |