EFNB1, ephrin B1, 1947

N. diseases: 134; N. variants: 19
Disease: Brachycephaly ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0221356
Disease: Brachycephaly
Brachycephaly 		0.400 Biomarker disease CTD_human Mutations of ephrin-B1 (EFNB1), a marker of tissue boundary formation, cause craniofrontonasal syndrome. 15166289 2004
CUI: C0221356
Disease: Brachycephaly
Brachycephaly 		0.400 Biomarker disease HPO