Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4659
Gene Symbol: PPP1R12A
PPP1R12A
CUI: C0079541
Disease: Holoprosencephaly
Holoprosencephaly
0.300 Biomarker GENOMICS_ENGLAND Loss-of-Function Variants in PPP1R12A: From Isolated Sex Reversal to Holoprosencephaly Spectrum and Urogenital Malformations. 31883643

2020