ZNF148, zinc finger protein 148, 7707

N. diseases: 81; N. variants: 2
Disease: Congenital malformation syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1302790
Disease: Congenital malformation syndrome
Congenital malformation syndrome 		0.010 GeneticVariation disease BEFREE In a cohort of 2172 patient-parent trios referred for routine diagnostic whole exome sequencing for ID and/or multiple congenital anomalies (MCA) in the period 2012-2016, four patients were identified who carried de novo heterozygous nonsense or frameshift mutations in the ZNF148 gene. 27964749 2016