Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 1947
Gene Symbol: EFNB1
EFNB1
0.150 AlteredExpression disease BEFREE We hypothesized that diaphragmatic and pulmonary expression of ephrin-B1, -B2, and -B4 is decreased in the nitrofen-induced CDH model. 30469162 2019
Entrez Id: 1947
Gene Symbol: EFNB1
EFNB1
0.150 GeneticVariation disease BEFREE Our case is the second report of EFNB1 duplication associated with CDH in a male patient, supporting its implication sensitive to gene dosage in diaphragm development. 21782985 2011
Entrez Id: 1947
Gene Symbol: EFNB1
EFNB1
0.150 GeneticVariation disease BEFREE A novel EFNB1 mutation (c.712delG) in a family with craniofrontonasal syndrome and diaphragmatic hernia. 20734337 2010
Entrez Id: 1947
Gene Symbol: EFNB1
EFNB1
0.150 GeneticVariation disease BEFREE Although the clinical phenotypes of the patients were not highly suggestive of a phenotype-genotype correlation, the two female patients were diagnosed with diaphragmatic hernia harbouring putative ephrin-B1 truncating mutations. 18043713 2008
Entrez Id: 1947
Gene Symbol: EFNB1
EFNB1
0.150 GeneticVariation disease BEFREE Our cases represent the first in which CDH has been confirmed in males with mutations in EFNB1, highlighting an important role for signalling by ephrin-B1 in the development of the diaphragm. 16639408 2006
Entrez Id: 1947
Gene Symbol: EFNB1
EFNB1
0.150 Biomarker disease HPO