Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 871
Gene Symbol: SERPINH1
SERPINH1
0.010 GeneticVariation disease BEFREE A novel homozygous variant in SERPINH1 associated with a severe, lethal presentation of osteogenesis imperfecta with hydranencephaly. 27677223 2016