Gene: AHI1

Alternate names for this Gene: AHI-1|JBTS3|ORF1|dJ71N10.1

Gene Summary: This gene is apparently required for both cerebellar and cortical development in humans. This gene mutations cause specific forms of Joubert syndrome-related disorders. Joubert syndrome (JS) is a recessively inherited developmental brain disorder with several identified causative chromosomal loci. Alternatively spliced transcript variants encoding different isoforms have been identified.

Gene is located in Chromosome: 6

Location in Chromosome : 6q23.3

Description of this Gene: Abelson helper integration site 1

Type of Gene: protein-coding

rs146318841 in AHI1 gene and Blood basophil count (lab test) PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

rs1535435 in AHI1 gene and Diabetes Mellitus, Non-Insulin-Dependent PMID 17668382 2007 Type 2 diabetes whole-genome association study in four populations: the DiaGen consortium.

rs2746438 in AHI1 gene and Eczema PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs371637724 in AHI1 gene and Familial aplasia of the vermis PMID 26092869 2015 Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity.

PMID 16453322 2006 AHI1 gene mutations cause specific forms of Joubert syndrome-related disorders.

PMID 16155189 2006 AHI1 mutations cause both retinal dystrophy and renal cystic disease in Joubert syndrome.

rs13208164 in AHI1 gene and Finding of Mean Corpuscular Hemoglobin PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs146318841 in AHI1 gene and Granulocyte count PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

rs6928977 in AHI1 gene and Hodgkin Disease PMID 29196614 2017 We identify risk loci for all classical Hodgkin lymphoma at 6q22.33 (rs9482849, P = 1.52 × 10<sup>-8</sup>) and for nodular sclerosis Hodgkin lymphoma at 3q28 (rs4459895, P = 9.43 × 10<sup>-17</sup>), 6q23.3 (rs6928977, P = 4.62 × 10<sup>-11</sup>), 10p14 (rs3781093, P = 9.49 × 10<sup>-13</sup>), 13q34 (rs112998813, P = 4.58 × 10<sup>-8</sup>) and 16p13.13 (rs34972832, P = 2.12 × 10<sup>-8</sup>).

rs7773987 in AHI1 gene and Immunoglobulin A deficiency (disorder) PMID 27723758 2016 Common variants at PVT1, ATG13-AMBRA1, AHI1 and CLEC16A are associated with selective IgA deficiency.

rs121434350 in AHI1 gene and JOUBERT SYNDROME 3 PMID 15322546 2004 Abnormal cerebellar development and axonal decussation due to mutations in AHI1 in Joubert syndrome.

PMID 21623382 2011 Defective Wnt-dependent cerebellar midline fusion in a mouse model of Joubert syndrome.

PMID 23532844 2013 The Joubert syndrome-associated missense mutation (V443D) in the Abelson-helper integration site 1 (AHI1) protein alters its localization and protein-protein interactions.

PMID 15467982 2004 Mutations in the AHI1 gene, encoding jouberin, cause Joubert syndrome with cortical polymicrogyria.

PMID 16155189 2006 AHI1 mutations cause both retinal dystrophy and renal cystic disease in Joubert syndrome.

PMID 16453322 2006 AHI1 gene mutations cause specific forms of Joubert syndrome-related disorders.

PMID 26092869 2015 Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity.

PMID 25445212 2015 Diagnostic application of an extensive gene panel for Leber congenital amaurosis with severe genetic heterogeneity.

PMID 28442542 2017 Missense mutations in the WD40 domain of AHI1 cause non-syndromic retinitis pigmentosa.

PMID 28431631 2017 Neuroimaging findings in Joubert syndrome with C5orf42 gene mutations: A milder form of molar tooth sign and vermian hypoplasia.

rs2207000 in AHI1 gene and Leukemia, Myelocytic, Acute PMID 27903959 2017 Genome-wide haplotype association study identify the FGFR2 gene as a risk gene for acute myeloid leukemia.

rs11154801 in AHI1 gene and Lupus Erythematosus, Systemic PMID 28714469 2017 Transancestral mapping and genetic load in systemic lupus erythematosus.

PMID 26502338 2015 Genetic association analyses implicate aberrant regulation of innate and adaptive immunity genes in the pathogenesis of systemic lupus erythematosus.

rs11154801 in AHI1 gene and Multiple Sclerosis PMID 21833088 2011 Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis.

PMID 24076602 2013 Analysis of immune-related loci identifies 48 new susceptibility variants for multiple sclerosis.

rs2746419 in AHI1 gene and Nephrotic Syndrome PMID 31263063 2019 Genetic Identification of Two Novel Loci Associated with Steroid-Sensitive Nephrotic Syndrome.

rs146318841 in AHI1 gene and Neutrophil count (procedure) PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

rs6928977 in AHI1 gene and Nodular Sclerosis Classical Hodgkin Lymphoma PMID 29196614 2017 We identify risk loci for all classical Hodgkin lymphoma at 6q22.33 (rs9482849, P = 1.52 × 10<sup>-8</sup>) and for nodular sclerosis Hodgkin lymphoma at 3q28 (rs4459895, P = 9.43 × 10<sup>-17</sup>), 6q23.3 (rs6928977, P = 4.62 × 10<sup>-11</sup>), 10p14 (rs3781093, P = 9.49 × 10<sup>-13</sup>), 13q34 (rs112998813, P = 4.58 × 10<sup>-8</sup>) and 16p13.13 (rs34972832, P = 2.12 × 10<sup>-8</sup>).

rs6914831 in AHI1 gene and RDW - Red blood cell distribution width result PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs2746432 in AHI1 gene and Red Blood Cell Count measurement PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs6914831 in AHI1 gene and Red cell distribution width determination PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs12190426 in AHI1 gene and Respiratory Tract Diseases PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs7773987 in AHI1 gene and Selective immunoglobulin A deficiency PMID 27723758 2016 Common variants at PVT1, ATG13-AMBRA1, AHI1 and CLEC16A are associated with selective IgA deficiency.

rs146318841 in AHI1 gene and White Blood Cell Count procedure PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.