Source: GENOMICS_ENGLAND

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 317662
Gene Symbol: FAM149B1
FAM149B1
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		0.310 Biomarker GENOMICS_ENGLAND We conclude that FAM149B1 is required for normal ciliary biology and that its deficiency results in a range of ciliopathy phenotypes in humans along the spectrum of Joubert syndrome. 30905400

2019