SERPINH1, serpin family H member 1, 871

N. diseases: 148; N. variants: 8
Disease: Hydranencephaly ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0020225
Disease: Hydranencephaly
Hydranencephaly 		0.010 GeneticVariation disease BEFREE A novel homozygous variant in SERPINH1 associated with a severe, lethal presentation of osteogenesis imperfecta with hydranencephaly. 27677223 2016