YAP1, Yes associated protein 1, 10413

N. diseases: 374; N. variants: 15
Disease: Coloboma, cleft lip-palate and mental retardation syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0795902
Disease: Coloboma, cleft lip-palate and mental retardation syndrome
Coloboma, cleft lip-palate and mental retardation syndrome 		0.300 GermlineCausalMutation disease ORPHANET Heterozygous loss-of-function mutations in YAP1 cause both isolated and syndromic optic fissure closure defects. 24462371 2014