ANOS1, anosmin 1, 3730

N. diseases: 166; N. variants: 31
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs137852515
rs137852515
Entrez Id: 3730
Gene Symbol: ANOS1
ANOS1
CUI: C1563719
Disease:
Kallmann Syndrome 1 		0.800 GeneticVariation UNIPROT The prevalence of CHD7 missense versus truncating mutations is higher in patients with Kallmann syndrome than in typical CHARGE patients. 25077900 2014
dbSNP: rs137852517
rs137852517
Entrez Id: 3730
Gene Symbol: ANOS1
ANOS1
CUI: C1563719
Disease:
Kallmann Syndrome 1 		0.800 GeneticVariation UNIPROT The prevalence of CHD7 missense versus truncating mutations is higher in patients with Kallmann syndrome than in typical CHARGE patients. 25077900 2014
dbSNP: rs137852515
rs137852515
Entrez Id: 3730
Gene Symbol: ANOS1
ANOS1
CUI: C1563719
Disease:
Kallmann Syndrome 1 		0.800 GeneticVariation UNIPROT Mutations in FGF17, IL17RD, DUSP6, SPRY4, and FLRT3 are identified in individuals with congenital hypogonadotropic hypogonadism. 23643382 2013
dbSNP: rs137852517
rs137852517
Entrez Id: 3730
Gene Symbol: ANOS1
ANOS1
CUI: C1563719
Disease:
Kallmann Syndrome 1 		0.800 GeneticVariation UNIPROT Mutations in FGF17, IL17RD, DUSP6, SPRY4, and FLRT3 are identified in individuals with congenital hypogonadotropic hypogonadism. 23643382 2013
dbSNP: rs137852515
rs137852515
Entrez Id: 3730
Gene Symbol: ANOS1
ANOS1
CUI: C1563719
Disease:
Kallmann Syndrome 1 		0.800 GeneticVariation UNIPROT Identification of two novel missense mutations in the KAL1 gene in Han Chinese subjects with Kallmann Syndrome. 20530987 2011
dbSNP: rs137852515
rs137852515
Entrez Id: 3730
Gene Symbol: ANOS1
ANOS1
CUI: C1563719
Disease:
Kallmann Syndrome 1 		0.800 GeneticVariation UNIPROT A fertile male patient with Kallmann syndrome and two missense mutations in the KAL1 gene. 21168128 2011
dbSNP: rs137852517
rs137852517
Entrez Id: 3730
Gene Symbol: ANOS1
ANOS1
CUI: C1563719
Disease:
Kallmann Syndrome 1 		0.800 GeneticVariation UNIPROT A fertile male patient with Kallmann syndrome and two missense mutations in the KAL1 gene. 21168128 2011
dbSNP: rs137852517
rs137852517
Entrez Id: 3730
Gene Symbol: ANOS1
ANOS1
CUI: C1563719
Disease:
Kallmann Syndrome 1 		0.800 GeneticVariation UNIPROT Identification of two novel missense mutations in the KAL1 gene in Han Chinese subjects with Kallmann Syndrome. 20530987 2011
dbSNP: rs137852515
rs137852515
Entrez Id: 3730
Gene Symbol: ANOS1
ANOS1
CUI: C1563719
Disease:
Kallmann Syndrome 1 		0.800 GeneticVariation UNIPROT Novel mechanisms of fibroblast growth factor receptor 1 regulation by extracellular matrix protein anosmin-1. 19696444 2009
dbSNP: rs137852517
rs137852517
Entrez Id: 3730
Gene Symbol: ANOS1
ANOS1
CUI: C1563719
Disease:
Kallmann Syndrome 1 		0.800 GeneticVariation UNIPROT Novel mechanisms of fibroblast growth factor receptor 1 regulation by extracellular matrix protein anosmin-1. 19696444 2009
dbSNP: rs137852515
rs137852515
Entrez Id: 3730
Gene Symbol: ANOS1
ANOS1
CUI: C1563719
Disease:
Kallmann Syndrome 1 		0.800 GeneticVariation UNIPROT KAL1 mutations are not a common cause of idiopathic hypogonadotrophic hypogonadism in humans. 17213338 2007
dbSNP: rs137852515
rs137852515
Entrez Id: 3730
Gene Symbol: ANOS1
ANOS1
CUI: C1563719
Disease:
Kallmann Syndrome 1 		0.800 GeneticVariation UNIPROT Clinical assessment and molecular analysis of GnRHR and KAL1 genes in males with idiopathic hypogonadotrophic hypogonadism. 17223984 2007
dbSNP: rs137852517
rs137852517
Entrez Id: 3730
Gene Symbol: ANOS1
ANOS1
CUI: C1563719
Disease:
Kallmann Syndrome 1 		0.800 GeneticVariation UNIPROT Clinical assessment and molecular analysis of GnRHR and KAL1 genes in males with idiopathic hypogonadotrophic hypogonadism. 17223984 2007
dbSNP: rs137852517
rs137852517
Entrez Id: 3730
Gene Symbol: ANOS1
ANOS1
CUI: C1563719
Disease:
Kallmann Syndrome 1 		0.800 GeneticVariation UNIPROT KAL1 mutations are not a common cause of idiopathic hypogonadotrophic hypogonadism in humans. 17213338 2007
dbSNP: rs137852515
rs137852515
Entrez Id: 3730
Gene Symbol: ANOS1
ANOS1
CUI: C1563719
Disease:
Kallmann Syndrome 1 		0.800 GeneticVariation UNIPROT Kallmann syndrome: mutations in the genes encoding prokineticin-2 and prokineticin receptor-2. 17054399 2006
dbSNP: rs137852517
rs137852517
Entrez Id: 3730
Gene Symbol: ANOS1
ANOS1
CUI: C1563719
Disease:
Kallmann Syndrome 1 		0.800 GeneticVariation UNIPROT Kallmann syndrome: mutations in the genes encoding prokineticin-2 and prokineticin receptor-2. 17054399 2006
dbSNP: rs137852515
rs137852515
Entrez Id: 3730
Gene Symbol: ANOS1
ANOS1
CUI: C1563719
Disease:
Kallmann Syndrome 1 		0.800 GeneticVariation UNIPROT Kallmann syndrome: 14 novel mutations in KAL1 and FGFR1 (KAL2). 15605412 2005
dbSNP: rs137852517
rs137852517
Entrez Id: 3730
Gene Symbol: ANOS1
ANOS1
CUI: C1563719
Disease:
Kallmann Syndrome 1 		0.800 GeneticVariation UNIPROT Kallmann syndrome: 14 novel mutations in KAL1 and FGFR1 (KAL2). 15605412 2005
dbSNP: rs137852515
rs137852515
Entrez Id: 3730
Gene Symbol: ANOS1
ANOS1
CUI: C1563719
Disease:
Kallmann Syndrome 1 		0.800 GeneticVariation UNIPROT The product of X-linked Kallmann's syndrome gene (KAL1) affects the migratory activity of gonadotropin-releasing hormone (GnRH)-producing neurons. 15471890 2004
dbSNP: rs137852515
rs137852515
Entrez Id: 3730
Gene Symbol: ANOS1
ANOS1
CUI: C1563719
Disease:
Kallmann Syndrome 1 		0.800 GeneticVariation UNIPROT Clinical assessment and mutation analysis of Kallmann syndrome 1 (KAL1) and fibroblast growth factor receptor 1 (FGFR1, or KAL2) in five families and 18 sporadic patients. 15001591 2004
dbSNP: rs137852517
rs137852517
Entrez Id: 3730
Gene Symbol: ANOS1
ANOS1
CUI: C1563719
Disease:
Kallmann Syndrome 1 		0.800 GeneticVariation UNIPROT Clinical assessment and mutation analysis of Kallmann syndrome 1 (KAL1) and fibroblast growth factor receptor 1 (FGFR1, or KAL2) in five families and 18 sporadic patients. 15001591 2004
dbSNP: rs137852517
rs137852517
Entrez Id: 3730
Gene Symbol: ANOS1
ANOS1
CUI: C1563719
Disease:
Kallmann Syndrome 1 		0.800 GeneticVariation UNIPROT The product of X-linked Kallmann's syndrome gene (KAL1) affects the migratory activity of gonadotropin-releasing hormone (GnRH)-producing neurons. 15471890 2004
dbSNP: rs137852515
rs137852515
Entrez Id: 3730
Gene Symbol: ANOS1
ANOS1
CUI: C1563719
Disease:
Kallmann Syndrome 1 		0.800 GeneticVariation UNIPROT The importance of autosomal genes in Kallmann syndrome: genotype-phenotype correlations and neuroendocrine characteristics. 11297579 2001
dbSNP: rs137852517
rs137852517
Entrez Id: 3730
Gene Symbol: ANOS1
ANOS1
CUI: C1563719
Disease:
Kallmann Syndrome 1 		0.800 GeneticVariation UNIPROT The importance of autosomal genes in Kallmann syndrome: genotype-phenotype correlations and neuroendocrine characteristics. 11297579 2001
dbSNP: rs137852515
rs137852515
Entrez Id: 3730
Gene Symbol: ANOS1
ANOS1
CUI: C1563719
Disease:
Kallmann Syndrome 1 		0.800 GeneticVariation UNIPROT A recurrent missense mutation in the KAL gene in patients with X-linked Kallmann's syndrome. 9589672 1998