ALB, albumin, 213

N. diseases: 1198; N. variants: 21
Disease: Blepharophimosis ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0005744
Disease: Blepharophimosis
Blepharophimosis 		0.010 GeneticVariation disease BEFREE The homologous human region has been precisely identified as an HSA 3q23 DNA segment containing the Blepharophimosis Ptosis Epicanthus locus (BPES), a syndrome combining Premature Ovarian Failure (POF) and an excess of epidermis of the eyelids. 11748618 2001