Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
SHORT-RIB THORACIC DYSPLASIA 7/20 WITH POLYDACTYLY, DIGENIC
0.600 Biomarker disease MGD Human and mouse mutations in WDR35 cause short-rib polydactyly syndromes due to abnormal ciliogenesis. 21473986 2011
SHORT-RIB THORACIC DYSPLASIA 7/20 WITH POLYDACTYLY, DIGENIC
0.600 GermlineCausalMutation disease ORPHANET Human and mouse mutations in WDR35 cause short-rib polydactyly syndromes due to abnormal ciliogenesis. 21473986 2011
SHORT-RIB THORACIC DYSPLASIA 7/20 WITH POLYDACTYLY, DIGENIC
0.600 GermlineCausalMutation disease ORPHANET An unclassifiable short rib-polydactyly syndrome with acromesomelic hypomineralization and campomelia in siblings. 17935248 2007
SHORT-RIB THORACIC DYSPLASIA 7/20 WITH POLYDACTYLY, DIGENIC
0.600 CausalMutation disease CLINVAR