KIAA0586, KIAA0586, 9786

N. diseases: 157; N. variants: 25
Disease: Short Rib-Polydactyly Syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0036996
Disease: Short Rib-Polydactyly Syndrome
Short Rib-Polydactyly Syndrome 		0.320 GeneticVariation disease BEFREE Mutations in KIAA0586 Cause Lethal Ciliopathies Ranging from a Hydrolethalus Phenotype to Short-Rib Polydactyly Syndrome. 26166481 2015
CUI: C0036996
Disease: Short Rib-Polydactyly Syndrome
Short Rib-Polydactyly Syndrome 		0.320 GeneticVariation disease BEFREE In chicken, loss of TALPID3 results in non-functional cilia and short-rib polydactyly syndrome. 26386044 2015
CUI: C0036996
Disease: Short Rib-Polydactyly Syndrome
Short Rib-Polydactyly Syndrome 		0.320 Biomarker disease CTD_human