EBP, EBP cholestenol delta-isomerase, 10682

N. diseases: 243; N. variants: 42
Disease: MEND SYNDROME ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4085243
Disease: MEND SYNDROME
MEND SYNDROME 		0.730 GeneticVariation disease BEFREE Male EBP disorder with neurologic defects (MEND) syndrome is an X-linked disease caused by hypomorphic mutations in the EBP (emopamil-binding protein) gene. 31397093 2019
CUI: C4085243
Disease: MEND SYNDROME
MEND SYNDROME 		0.730 Biomarker disease GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308 2016
CUI: C4085243
Disease: MEND SYNDROME
MEND SYNDROME 		0.730 GermlineCausalMutation disease ORPHANET An unusual phenotype of X-linked developmental delay and extreme behavioral difficulties associated with a mutation in the EBP gene. 24459067 2014
CUI: C4085243
Disease: MEND SYNDROME
MEND SYNDROME 		0.730 Biomarker disease BEFREE We incorporated cRGD into the YSK-MEND (RGD-MEND) to achieve an efficient gene silencing in TECs. 24120854 2014
CUI: C4085243
Disease: MEND SYNDROME
MEND SYNDROME 		0.730 GeneticVariation disease UNIPROT A novel EBP c.224T>A mutation supports the existence of a male-specific disorder independent of CDPX2. 24700572 2014
CUI: C4085243
Disease: MEND SYNDROME
MEND SYNDROME 		0.730 GeneticVariation disease UNIPROT An unusual phenotype of X-linked developmental delay and extreme behavioral difficulties associated with a mutation in the EBP gene. 24459067 2014
CUI: C4085243
Disease: MEND SYNDROME
MEND SYNDROME 		0.730 GeneticVariation disease BEFREE To study the clinical and genetic differences in males affected either with Conradi-Hünermann-Happle (CHH) syndrome (X-linked dominant chondrodysplasia punctata, CDPX2) or with a nonmosaic, X-linked recessive disorder for which we propose the acronymic term MEND syndrome (male EBP disorder with neurological defects). 22229330 2012
CUI: C4085243
Disease: MEND SYNDROME
MEND SYNDROME 		0.730 GeneticVariation disease UNIPROT A novel X-linked multiple congenital anomaly syndrome associated with an EBP mutation. 20949533 2010
CUI: C4085243
Disease: MEND SYNDROME
MEND SYNDROME 		0.730 Biomarker disease GENOMICS_ENGLAND A novel X-linked multiple congenital anomaly syndrome associated with an EBP mutation. 20949533 2010
CUI: C4085243
Disease: MEND SYNDROME
MEND SYNDROME 		0.730 GeneticVariation disease UNIPROT Molecular, biochemical, and phenotypic analysis of a hemizygous male with a severe atypical phenotype for X-linked dominant Conradi-Hunermann-Happle syndrome and a mutation in EBP. 12503101 2003
CUI: C4085243
Disease: MEND SYNDROME
MEND SYNDROME 		0.730 Biomarker disease GENOMICS_ENGLAND
CUI: C4085243
Disease: MEND SYNDROME
MEND SYNDROME 		0.730 Biomarker disease CTD_human
CUI: C4085243
Disease: MEND SYNDROME
MEND SYNDROME 		0.730 CausalMutation disease CLINVAR