KIAA0753, KIAA0753, 9851

N. diseases: 82; N. variants: 4
Disease: Jeune thoracic dystrophy ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0265275
Disease: Jeune thoracic dystrophy
Jeune thoracic dystrophy 		0.110 GeneticVariation disease BEFREE In addition to these, KIAA0753 variants were recently described in seven patients with Jeune asphyxiating thoracic dystrophy (ATD) (two first cousins, one unrelated patient and one fetus), Joubert syndrome (two siblings) and orofaciodigital syndrome type 6 (one patient). 31816441 2019
CUI: C0265275
Disease: Jeune thoracic dystrophy
Jeune thoracic dystrophy 		0.110 CausalMutation disease CLINVAR Novel KIAA0753 mutations extend the phenotype of skeletal ciliopathies. 29138412 2017
CUI: C0265275
Disease: Jeune thoracic dystrophy
Jeune thoracic dystrophy 		0.110 GeneticVariation disease CLINVAR