Disease: SMITH-MCCORT DYSPLASIA 2 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3714896
Disease: SMITH-MCCORT DYSPLASIA 2
SMITH-MCCORT DYSPLASIA 2 		0.600 Biomarker disease GENOMICS_ENGLAND Additional three patients with Smith-McCort dysplasia due to novel RAB33B mutations. 28127940 2017
CUI: C3714896
Disease: SMITH-MCCORT DYSPLASIA 2
SMITH-MCCORT DYSPLASIA 2 		0.600 GeneticVariation disease UNIPROT A novel RAB33B mutation in Smith-McCort dysplasia. 23042644 2013
CUI: C3714896
Disease: SMITH-MCCORT DYSPLASIA 2
SMITH-MCCORT DYSPLASIA 2 		0.600 GeneticVariation disease UNIPROT Mutation in RAB33B, which encodes a regulator of retrograde Golgi transport, defines a second Dyggve--Melchior--Clausen locus. 22652534 2012
CUI: C3714896
Disease: SMITH-MCCORT DYSPLASIA 2
SMITH-MCCORT DYSPLASIA 2 		0.600 GeneticVariation disease CLINVAR
CUI: C3714896
Disease: SMITH-MCCORT DYSPLASIA 2
SMITH-MCCORT DYSPLASIA 2 		0.600 CausalMutation disease CLINVAR