Disease: Ciliopathies ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4277690
Disease: Ciliopathies
Ciliopathies 		0.340 Biomarker disease BEFREE Our results suggest that JBTS17 contributes to mitotic progression by interacting with LIS1, and abnormal mitosis is an underlying mechanism of the microcephaly phenotype in JBTS17-related ciliopathies. 31004438 2019
CUI: C4277690
Disease: Ciliopathies
Ciliopathies 		0.340 Biomarker disease BEFREE Clinical and experimental evidence suggest a link between KIF7 and C5orf42-related ciliopathies through Sonic Hedgehog signaling. 29321670 2018
CUI: C4277690
Disease: Ciliopathies
Ciliopathies 		0.340 GeneticVariation disease BEFREE Novel mutations in the ciliopathy-associated gene CPLANE1 (C5orf42) cause OFD syndrome type VI rather than Joubert syndrome. 29605658 2018
CUI: C4277690
Disease: Ciliopathies
Ciliopathies 		0.340 GeneticVariation disease BEFREE C5orf42 mutations have already been reported in Joubert syndrome confirming that OFD VI and JBS are allelic disorders, thus enhancing our knowledge of the complex, highly heterogeneous nature of ciliopathies. 24178751 2014
CUI: C4277690
Disease: Ciliopathies
Ciliopathies 		0.340 Biomarker disease GENOMICS_ENGLAND