Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2137
Gene Symbol: EXTL3
EXTL3
0.120 GeneticVariation disease BEFREE These data identify <i>EXTL3</i> mutations as a novel cause of severe immune deficiency with skeletal dysplasia and developmental delay and underline a crucial role of HS in thymopoiesis and skeletal and brain development. 28148688 2017
Entrez Id: 2137
Gene Symbol: EXTL3
EXTL3
0.120 GeneticVariation disease BEFREE Mutations in EXTL3 Cause Neuro-immuno-skeletal Dysplasia Syndrome. 28132690 2017
Entrez Id: 2137
Gene Symbol: EXTL3
EXTL3
0.120 GeneticVariation disease CLINVAR