Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 9509
Gene Symbol: ADAMTS2
ADAMTS2
CUI: C0000846
Disease: Agenesis
Agenesis
0.010 GeneticVariation BEFREE In the first case, a homozygous nonsense mutation in ADAMTS2 (substitution of a codon for tryptophan by a stopcodon) causes type VIIC Ehlers-Danlos syndrome (EDS) with multiple tooth agenesis and focal dysplastic dentin defects. 17118335

2007