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

Entrez Id: 54806
Gene Symbol: AHI1
AHI1
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		0.700 Biomarker BEFREE However, Ahi1 loss in these cells results in: (1) reduced localization of the JBTS-associated protein Arl13b to the ciliary membrane, (2) decreased sonic hedgehog signaling, (3) and an abnormally elongated ciliary axoneme accompanied by an increase in ciliary IFT88 concentrations. 31391239

2019
Entrez Id: 54806
Gene Symbol: AHI1
AHI1
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		0.700 GeneticVariation BEFREE Although AHI1 mutations in humans cause abnormal cerebellar development and impaired axonal decussation in JBTS, these phenotypes are not robust or are absent in various mouse models with Ahi1 mutations. 30949029

2019
Entrez Id: 54806
Gene Symbol: AHI1
AHI1
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		0.700 Biomarker BEFREE Moreover, Ahi1 loss impacts muscle development directly, outside of any indirect impact of cerebellar malformations, revealing a novel myogenic cause for hypotonia in JBTS. 30695685

2019
Entrez Id: 54806
Gene Symbol: AHI1
AHI1
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		0.700 GeneticVariation BEFREE Human induced pluripotent stem cells (hiPSCs) from a patient carrying a homozygous missense mutation (c.2168G > A) in AHI1, the first gene to be associated with JS, were produced using a virus-free protocol. 31202121

2019
Entrez Id: 54806
Gene Symbol: AHI1
AHI1
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		0.700 GeneticVariation BEFREE In order to elucidate ciliopathy-associated molecular mechanisms, human induced pluripotent stem cells (hiPSCs) were derived from a patient affected by JS carrying a homozygous missense mutation in the AHI1 gene (p.H896R) that encodes a protein named Jouberin. 29334628

2018