Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 9851
Gene Symbol: KIAA0753
KIAA0753
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
Entrez Id: 9851
Gene Symbol: KIAA0753
KIAA0753
0.110 CausalMutation disease CLINVAR Novel KIAA0753 mutations extend the phenotype of skeletal ciliopathies. 29138412 2017
Entrez Id: 9851
Gene Symbol: KIAA0753
KIAA0753
0.110 GeneticVariation disease CLINVAR