Gene: KIAA0556 ×
Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 23247
Gene Symbol: KIAA0556
KIAA0556 		0.430 GeneticVariation disease BEFREE Via exome sequencing, we identified homozygous truncating mutations in both ADGRG1/GPR56 and KIAA0556, which are known to cause BFPP and mild brain-specific JBTS, respectively. 30982090 2019
Entrez Id: 23247
Gene Symbol: KIAA0556
KIAA0556 		0.430 GeneticVariation disease BEFREE Identification of a homozygous nonsense mutation in KIAA0556 in a consanguineous family displaying Joubert syndrome. 27245168 2016
Entrez Id: 23247
Gene Symbol: KIAA0556
KIAA0556 		0.430 GermlineCausalMutation disease ORPHANET Investigation of disease pathophysiology revealed that Kiaa0556 (-/-) null mice possess a Joubert syndrome-associated brain-restricted phenotype. 26714646 2015
Entrez Id: 23247
Gene Symbol: KIAA0556
KIAA0556 		0.430 GeneticVariation disease CLINVAR Investigation of disease pathophysiology revealed that Kiaa0556 (-/-) null mice possess a Joubert syndrome-associated brain-restricted phenotype. 26714646 2015
Entrez Id: 23247
Gene Symbol: KIAA0556
KIAA0556 		0.430 Biomarker disease BEFREE Investigation of disease pathophysiology revealed that Kiaa0556 (-/-) null mice possess a Joubert syndrome-associated brain-restricted phenotype. 26714646 2015