B9D2, B9 domain containing 2, 80776

N. diseases: 66; N. variants: 13
Disease: Meckel-Gruber syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0265215
Disease: Meckel-Gruber syndrome
Meckel-Gruber syndrome 		0.300 GermlineCausalMutation disease ORPHANET Disruption of a ciliary B9 protein complex causes Meckel syndrome. 21763481 2011