PUM1, pumilio RNA binding family member 1, 9698

N. diseases: 60; N. variants: 5
Disease: Abnormality of the face ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4025871
Disease: Abnormality of the face
Abnormality of the face 		0.300 Biomarker phenotype GENOMICS_ENGLAND PUM1 haploinsufficiency is associated with syndromic neurodevelopmental delay and epilepsy. 31859446 2020