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: C1837713
Disease: JOUBERT SYNDROME 3
JOUBERT SYNDROME 3 		0.900 GeneticVariation CLINVAR Missense mutations in the WD40 domain of AHI1 cause non-syndromic retinitis pigmentosa. 28442542

2017
Entrez Id: 54806
Gene Symbol: AHI1
AHI1
CUI: C1837713
Disease: JOUBERT SYNDROME 3
JOUBERT SYNDROME 3 		0.900 GeneticVariation CLINVAR Neuroimaging findings in Joubert syndrome with C5orf42 gene mutations: A milder form of molar tooth sign and vermian hypoplasia. 28431631

2017
Entrez Id: 54806
Gene Symbol: AHI1
AHI1
CUI: C1837713
Disease: JOUBERT SYNDROME 3
JOUBERT SYNDROME 3 		0.900 GeneticVariation CLINVAR Diagnostic application of an extensive gene panel for Leber congenital amaurosis with severe genetic heterogeneity. 25445212

2015
Entrez Id: 54806
Gene Symbol: AHI1
AHI1
CUI: C1837713
Disease: JOUBERT SYNDROME 3
JOUBERT SYNDROME 3 		0.900 CausalMutation CLINVAR Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity. 26092869

2015
Entrez Id: 54806
Gene Symbol: AHI1
AHI1
CUI: C1837713
Disease: JOUBERT SYNDROME 3
JOUBERT SYNDROME 3 		0.900 GeneticVariation CLINVAR Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity. 26092869

2015
Entrez Id: 54806
Gene Symbol: AHI1
AHI1
CUI: C1837713
Disease: JOUBERT SYNDROME 3
JOUBERT SYNDROME 3 		0.900 GeneticVariation UNIPROT The Joubert syndrome-associated missense mutation (V443D) in the Abelson-helper integration site 1 (AHI1) protein alters its localization and protein-protein interactions. 23532844

2013
Entrez Id: 54806
Gene Symbol: AHI1
AHI1
CUI: C1837713
Disease: JOUBERT SYNDROME 3
JOUBERT SYNDROME 3 		0.900 Biomarker MGD Defective Wnt-dependent cerebellar midline fusion in a mouse model of Joubert syndrome. 21623382

2011
Entrez Id: 54806
Gene Symbol: AHI1
AHI1
CUI: C1837713
Disease: JOUBERT SYNDROME 3
JOUBERT SYNDROME 3 		0.900 GeneticVariation UNIPROT Defective Wnt-dependent cerebellar midline fusion in a mouse model of Joubert syndrome. 21623382

2011
Entrez Id: 54806
Gene Symbol: AHI1
AHI1
CUI: C1837713
Disease: JOUBERT SYNDROME 3
JOUBERT SYNDROME 3 		0.900 GeneticVariation CLINVAR Defective Wnt-dependent cerebellar midline fusion in a mouse model of Joubert syndrome. 21623382

2011
Entrez Id: 54806
Gene Symbol: AHI1
AHI1
CUI: C1837713
Disease: JOUBERT SYNDROME 3
JOUBERT SYNDROME 3 		0.900 Biomarker GENOMICS_ENGLAND AHI1 mutations cause both retinal dystrophy and renal cystic disease in Joubert syndrome. 16155189

2006
Entrez Id: 54806
Gene Symbol: AHI1
AHI1
CUI: C1837713
Disease: JOUBERT SYNDROME 3
JOUBERT SYNDROME 3 		0.900 GeneticVariation UNIPROT AHI1 mutations cause both retinal dystrophy and renal cystic disease in Joubert syndrome. 16155189

2006
Entrez Id: 54806
Gene Symbol: AHI1
AHI1
CUI: C1837713
Disease: JOUBERT SYNDROME 3
JOUBERT SYNDROME 3 		0.900 GeneticVariation UNIPROT AHI1 gene mutations cause specific forms of Joubert syndrome-related disorders. 16453322

2006
Entrez Id: 54806
Gene Symbol: AHI1
AHI1
CUI: C1837713
Disease: JOUBERT SYNDROME 3
JOUBERT SYNDROME 3 		0.900 Biomarker GENOMICS_ENGLAND AHI1 gene mutations cause specific forms of Joubert syndrome-related disorders. 16453322

2006
Entrez Id: 54806
Gene Symbol: AHI1
AHI1
CUI: C1837713
Disease: JOUBERT SYNDROME 3
JOUBERT SYNDROME 3 		0.900 Biomarker GENOMICS_ENGLAND Mutations in the AHI1 gene, encoding jouberin, cause Joubert syndrome with cortical polymicrogyria. 15467982

2004
Entrez Id: 54806
Gene Symbol: AHI1
AHI1
CUI: C1837713
Disease: JOUBERT SYNDROME 3
JOUBERT SYNDROME 3 		0.900 GeneticVariation UNIPROT Mutations in the AHI1 gene, encoding jouberin, cause Joubert syndrome with cortical polymicrogyria. 15467982

2004
Entrez Id: 54806
Gene Symbol: AHI1
AHI1
CUI: C1837713
Disease: JOUBERT SYNDROME 3
JOUBERT SYNDROME 3 		0.900 GeneticVariation CLINVAR Mutations in the AHI1 gene, encoding jouberin, cause Joubert syndrome with cortical polymicrogyria. 15467982

2004
Entrez Id: 54806
Gene Symbol: AHI1
AHI1
CUI: C1837713
Disease: JOUBERT SYNDROME 3
JOUBERT SYNDROME 3 		0.900 GeneticVariation UNIPROT Abnormal cerebellar development and axonal decussation due to mutations in AHI1 in Joubert syndrome. 15322546

2004
Entrez Id: 54806
Gene Symbol: AHI1
AHI1
CUI: C1837713
Disease: JOUBERT SYNDROME 3
JOUBERT SYNDROME 3 		0.900 Biomarker GENOMICS_ENGLAND Joubert syndrome: a review. 1341417

1992
Entrez Id: 54806
Gene Symbol: AHI1
AHI1
CUI: C1837713
Disease: JOUBERT SYNDROME 3
JOUBERT SYNDROME 3 		0.900 Biomarker GENOMICS_ENGLAND

Entrez Id: 54806
Gene Symbol: AHI1
AHI1
CUI: C1837713
Disease: JOUBERT SYNDROME 3
JOUBERT SYNDROME 3 		0.900 Biomarker CTD_human