SERPINA4, serpin family A member 4, 5267

N. diseases: 45; N. variants: 3
Disease: Orofaciodigital Syndrome I ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1510460
Disease: Orofaciodigital Syndrome I
Orofaciodigital Syndrome I 		0.010 GeneticVariation disease BEFREE There was a maximum lod score of 3.32 in an 'affecteds only' analysis using a marker within the KAL gene (theta = 0.0 ), thereby confirming the location of the gene for OFD1 on the X chromosome. 9215688 1997