Source: UNIPROT

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 3730
Gene Symbol: ANOS1
ANOS1
CUI: C1563719
Disease: Kallmann Syndrome 1
Kallmann Syndrome 1 		0.720 GeneticVariation UNIPROT The prevalence of CHD7 missense versus truncating mutations is higher in patients with Kallmann syndrome than in typical CHARGE patients. 25077900

2014
Entrez Id: 3730
Gene Symbol: ANOS1
ANOS1
CUI: C1563719
Disease: Kallmann Syndrome 1
Kallmann Syndrome 1 		0.720 GeneticVariation UNIPROT Mutations in FGF17, IL17RD, DUSP6, SPRY4, and FLRT3 are identified in individuals with congenital hypogonadotropic hypogonadism. 23643382

2013
Entrez Id: 3730
Gene Symbol: ANOS1
ANOS1
CUI: C1563719
Disease: Kallmann Syndrome 1
Kallmann Syndrome 1 		0.720 GeneticVariation UNIPROT A fertile male patient with Kallmann syndrome and two missense mutations in the KAL1 gene. 21168128

2011
Entrez Id: 3730
Gene Symbol: ANOS1
ANOS1
CUI: C1563719
Disease: Kallmann Syndrome 1
Kallmann Syndrome 1 		0.720 GeneticVariation UNIPROT Identification of two novel missense mutations in the KAL1 gene in Han Chinese subjects with Kallmann Syndrome. 20530987

2011
Entrez Id: 3730
Gene Symbol: ANOS1
ANOS1
CUI: C1563719
Disease: Kallmann Syndrome 1
Kallmann Syndrome 1 		0.720 GeneticVariation UNIPROT Novel mechanisms of fibroblast growth factor receptor 1 regulation by extracellular matrix protein anosmin-1. 19696444

2009
Entrez Id: 3730
Gene Symbol: ANOS1
ANOS1
CUI: C1563719
Disease: Kallmann Syndrome 1
Kallmann Syndrome 1 		0.720 GeneticVariation UNIPROT KAL1 mutations are not a common cause of idiopathic hypogonadotrophic hypogonadism in humans. 17213338

2007
Entrez Id: 3730
Gene Symbol: ANOS1
ANOS1
CUI: C1563719
Disease: Kallmann Syndrome 1
Kallmann Syndrome 1 		0.720 GeneticVariation UNIPROT Clinical assessment and molecular analysis of GnRHR and KAL1 genes in males with idiopathic hypogonadotrophic hypogonadism. 17223984

2007
Entrez Id: 3730
Gene Symbol: ANOS1
ANOS1
CUI: C1563719
Disease: Kallmann Syndrome 1
Kallmann Syndrome 1 		0.720 GeneticVariation UNIPROT Kallmann syndrome: mutations in the genes encoding prokineticin-2 and prokineticin receptor-2. 17054399

2006
Entrez Id: 3730
Gene Symbol: ANOS1
ANOS1
CUI: C1563719
Disease: Kallmann Syndrome 1
Kallmann Syndrome 1 		0.720 GeneticVariation UNIPROT Kallmann syndrome: 14 novel mutations in KAL1 and FGFR1 (KAL2). 15605412

2005
Entrez Id: 3730
Gene Symbol: ANOS1
ANOS1
CUI: C1563719
Disease: Kallmann Syndrome 1
Kallmann Syndrome 1 		0.720 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
Entrez Id: 3730
Gene Symbol: ANOS1
ANOS1
CUI: C1563719
Disease: Kallmann Syndrome 1
Kallmann Syndrome 1 		0.720 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
Entrez Id: 3730
Gene Symbol: ANOS1
ANOS1
CUI: C1563719
Disease: Kallmann Syndrome 1
Kallmann Syndrome 1 		0.720 GeneticVariation UNIPROT The importance of autosomal genes in Kallmann syndrome: genotype-phenotype correlations and neuroendocrine characteristics. 11297579

2001
Entrez Id: 3730
Gene Symbol: ANOS1
ANOS1
CUI: C1563719
Disease: Kallmann Syndrome 1
Kallmann Syndrome 1 		0.720 GeneticVariation UNIPROT A recurrent missense mutation in the KAL gene in patients with X-linked Kallmann's syndrome. 9589672

1998
Entrez Id: 3730
Gene Symbol: ANOS1
ANOS1
CUI: C1563719
Disease: Kallmann Syndrome 1
Kallmann Syndrome 1 		0.720 GeneticVariation UNIPROT Genetic heterogeneity evidenced by low incidence of KAL-1 gene mutations in sporadic cases of gonadotropin-releasing hormone deficiency. 8989261

1997
Entrez Id: 3730
Gene Symbol: ANOS1
ANOS1
CUI: C1563719
Disease: Kallmann Syndrome 1
Kallmann Syndrome 1 		0.720 GeneticVariation UNIPROT Heterogeneity in the mutations responsible for X chromosome-linked Kallmann syndrome. 8504298

1993