Source: ALL

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 54806
Gene Symbol: AHI1
AHI1
CUI: C4277690
Disease: Ciliopathies
Ciliopathies 		0.340 GeneticVariation BEFREE Mutations in the Abelson-helper integration site 1 (<i>AHI1</i>) gene are associated with neurological/neuropsychiatric disorders, and cause the neurodevelopmental ciliopathy Joubert syndrome (JBTS). 31391239

2019
Entrez Id: 54806
Gene Symbol: AHI1
AHI1
CUI: C4277690
Disease: Ciliopathies
Ciliopathies 		0.340 Biomarker BEFREE The Ciliopathy Gene ahi1 Is Required for Zebrafish Cone Photoreceptor Outer Segment Morphogenesis and Survival. 28118669

2017
Entrez Id: 54806
Gene Symbol: AHI1
AHI1
CUI: C4277690
Disease: Ciliopathies
Ciliopathies 		0.340 GeneticVariation BEFREE Morpholinos against N-terminal zebrafish Ahi1, orthologous to where human mutations cluster, produced a ciliopathy, but targeting near human p.Arg1066 and p.Trp1088 did not. 25616960

2015
Entrez Id: 54806
Gene Symbol: AHI1
AHI1
CUI: C4277690
Disease: Ciliopathies
Ciliopathies 		0.340 GeneticVariation BEFREE Mutations in AHI1 cause Joubert syndrome (JBTS), a neurodevelopmental ciliopathy, characterized by midbrain-hindbrain malformations and motor/cognitive deficits. 23532844

2013
Entrez Id: 54806
Gene Symbol: AHI1
AHI1
CUI: C4277690
Disease: Ciliopathies
Ciliopathies 		0.340 Biomarker GENOMICS_ENGLAND