EPHA1, EPH receptor A1, 2041

N. diseases: 119; N. variants: 7
Disease: Craniofrontonasal dysplasia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0220767
Disease: Craniofrontonasal dysplasia
Craniofrontonasal dysplasia 		0.030 GeneticVariation disease BEFREE Mutations of EFNB1, which encodes a member of the ephrin family of transmembrane ligands for Eph receptor tyrosine kinases, is the cause of CFNS. 28140668 2018
CUI: C0220767
Disease: Craniofrontonasal dysplasia
Craniofrontonasal dysplasia 		0.030 GeneticVariation disease BEFREE The replacement of Glu125 with Lys, which lies within the G-H loop, part of the dimerization ligand-receptor interface, is expected to disrupt the interaction between the Eph receptor and ephrin B1 ligand, thus leading to craniofrontonasal syndrome. 21385071 2012
CUI: C0220767
Disease: Craniofrontonasal dysplasia
Craniofrontonasal dysplasia 		0.030 GeneticVariation disease BEFREE Recently, we have mapped a gene for CFNS in the pericentromeric region of the X chromosome that contains the EFNB1 gene, which encodes the ephrin-B1 ligand for Eph receptors. 15124102 2004