Disease: SMITH-MCCORT DYSPLASIA ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1846431
Disease: SMITH-MCCORT DYSPLASIA
SMITH-MCCORT DYSPLASIA 		0.320 GeneticVariation disease BEFREE Additional three patients with Smith-McCort dysplasia due to novel RAB33B mutations. 28127940 2017
CUI: C1846431
Disease: SMITH-MCCORT DYSPLASIA
SMITH-MCCORT DYSPLASIA 		0.320 GeneticVariation disease BEFREE A novel RAB33B mutation in Smith-McCort dysplasia. 23042644 2013
CUI: C1846431
Disease: SMITH-MCCORT DYSPLASIA
SMITH-MCCORT DYSPLASIA 		0.320 GermlineCausalMutation disease ORPHANET Mutation in RAB33B, which encodes a regulator of retrograde Golgi transport, defines a second Dyggve--Melchior--Clausen locus. 22652534 2012