Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 101290498
Gene Symbol: AD17
AD17
0.010 GeneticVariation group BEFREE Additional manifestations include neurosensorial deafness and proteinuric and hematuric progressive kidney disease (at some point, it was called Alport syndrome with macrothrombocytopenia), leucocyte inclusions, cataracts and liver enzyme abnormalities, resulting in different names for different manifestation combinations (MATINS, May-Hegglin anomaly, Fechtner, Epstein and Sebastian syndromes, and deafness AD 17). 31384439 2019