B9D2, B9 domain containing 2, 80776

N. diseases: 66; N. variants: 13
Disease: Meckel syndrome type 1 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3714506
Disease: Meckel syndrome type 1
Meckel syndrome type 1 		0.320 GeneticVariation disease BEFREE Our data validates the causation of MKS by pathogenic variation in B9D2 and TXNDC15 and also adds novel variants in CC2D2A, CEP290 and TMEM67 to the literature. 31411728 2019
CUI: C3714506
Disease: Meckel syndrome type 1
Meckel syndrome type 1 		0.320 Biomarker disease GENOMICS_ENGLAND Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity. 26092869 2015
CUI: C3714506
Disease: Meckel syndrome type 1
Meckel syndrome type 1 		0.320 Biomarker disease GENOMICS_ENGLAND We identified a homozygous c.301A>C (p.Ser101Arg) B9D2 mutation that segregates with MKS, affects an evolutionarily conserved residue, and is absent from controls. 21763481 2011
CUI: C3714506
Disease: Meckel syndrome type 1
Meckel syndrome type 1 		0.320 GeneticVariation disease BEFREE We identified a homozygous c.301A>C (p.Ser101Arg) B9D2 mutation that segregates with MKS, affects an evolutionarily conserved residue, and is absent from controls. 21763481 2011