PUM1, pumilio RNA binding family member 1, 9698

N. diseases: 13; N. variants: 4
Source: CURATED ×
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0010417
Disease: Cryptorchidism
Cryptorchidism
0.300 Biomarker disease GENOMICS_ENGLAND PUM1 haploinsufficiency is associated with syndromic neurodevelopmental delay and epilepsy. 31859446 2020