Disease: Roifman-Chitayat Syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2750068
Disease: Roifman-Chitayat Syndrome
Roifman-Chitayat Syndrome 		0.300 GermlineCausalMutation disease ORPHANET Dual loss of p110δ PI3-kinase and SKAP (KNSTRN) expression leads to combined immunodeficiency and multisystem syndromic features. 29180244 2018