Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 84976
Gene Symbol: DISP1
DISP1
0.010 GeneticVariation disease BEFREE HLX sequencing showed a novel but maternally inherited single nucleotide variant (c.27C>G) in a patient with isolated CDH, while DISP1 sequencing revealed a mosaic de novo heterozygous substitution (c.4412C>G; p.Ala1471Gly) in a male with a left-sided Bochdalek hernia plus multiple other anomalies. 20799323 2010