Disease: Waardenburg Anophthalmia Syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0599973
Disease: Waardenburg Anophthalmia Syndrome
Waardenburg Anophthalmia Syndrome 		0.010 GeneticVariation disease BEFREE We mapped the MLA locus to 14q24 and successfully identified three homozygous (one nonsense and two splice site) mutations in the SPARC (secreted protein acidic and rich in cysteine)-related modular calcium binding 1 (SMOC1) in three families. 21194678 2011