Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 3730
Gene Symbol: ANOS1
ANOS1
CUI: C0162809
Disease: Kallmann Syndrome
Kallmann Syndrome
0.700 GermlineCausalMutation ORPHANET Although loss-of-function mutations of the KAL1 gene is associated with the X-linked form of KS, the reproductive capacity remains unidentified in patients with KS with KAL1 gene mutations. 21168128

2011

Entrez Id: 3730
Gene Symbol: ANOS1
ANOS1
CUI: C0162809
Disease: Kallmann Syndrome
Kallmann Syndrome
0.700 GeneticVariation BEFREE These data extend the variety of KAL1 gene mutations in KS and further define the role of the KAL1 protein in olfactory bulb development. 20530987

2011

Entrez Id: 3730
Gene Symbol: ANOS1
ANOS1
CUI: C0162809
Disease: Kallmann Syndrome
Kallmann Syndrome
0.700 GeneticVariation BEFREE Anosmin-1, the KAL-1 gene product underlying X-linked KS, modulates FGFR1 signalling via regulation of FGF2/FGFR1/heparin signalling complex assembly and activity. 20117945

2010

Entrez Id: 3730
Gene Symbol: ANOS1
ANOS1
CUI: C0162809
Disease: Kallmann Syndrome
Kallmann Syndrome
0.700 Biomarker BEFREE To date, five genes for KS have been identified: KAL1, located on the X chromosome, and FGFR1, PROKR2, PROK2 and FGF8, which are involved in autosomally transmitted forms of KS. 20536592

2010

Entrez Id: 3730
Gene Symbol: ANOS1
ANOS1
CUI: C0162809
Disease: Kallmann Syndrome
Kallmann Syndrome
0.700 Biomarker BEFREE The first KS-related gene to be described (KAL1) was in the X-linked form. 20389085

2010

Entrez Id: 3730
Gene Symbol: ANOS1
ANOS1
CUI: C0162809
Disease: Kallmann Syndrome
Kallmann Syndrome
0.700 Biomarker BEFREE Anosmin-1, defective in Kallmann's syndrome, participates in the adhesion, migration and differentiation of different cell types in the CNS. 20874775

2010

Entrez Id: 3730
Gene Symbol: ANOS1
ANOS1
CUI: C0162809
Disease: Kallmann Syndrome
Kallmann Syndrome
0.700 GeneticVariation BEFREE Although multiple genetic pathways are now known to be involved in the development of this disorder, KAL1, the gene causing the X-linked form of Kallmann syndrome was the first to be identified. 20389086

2010

Entrez Id: 3730
Gene Symbol: ANOS1
ANOS1
CUI: C0162809
Disease: Kallmann Syndrome
Kallmann Syndrome
0.700 Biomarker BEFREE Keratinocyte-derived anosmin-1, an extracellular glycoprotein encoded by the X-linked Kallmann syndrome gene, is involved in modulation of epidermal nerve density in atopic dermatitis. 20219326

2010

Entrez Id: 3730
Gene Symbol: ANOS1
ANOS1
CUI: C0162809
Disease: Kallmann Syndrome
Kallmann Syndrome
0.700 GeneticVariation BEFREE Many of the gene mutations associated with Kallmann syndrome have been mapped to KAL1 or FGFR1. 19707180

2009

Entrez Id: 3730
Gene Symbol: ANOS1
ANOS1
CUI: C0162809
Disease: Kallmann Syndrome
Kallmann Syndrome
0.700 GeneticVariation BEFREE We believe that the proximity of the KAL-1 gene (Xp 22.3), involved in the pathogenesis of KS, to the phosphate regulating endopeptidase on the X chromosome gene (Xp 22.1-22.2), involved in XLH, might be responsible for this association. 19214032

2009

Entrez Id: 3730
Gene Symbol: ANOS1
ANOS1
CUI: C0162809
Disease: Kallmann Syndrome
Kallmann Syndrome
0.700 GeneticVariation BEFREE We performed analysis of CHD7 in 36 patients with KS and 20 patients with normosmic idiopathic hypogonadotropic hypogonadism (nIHH) in whom mutations in KAL1, FGFR1, PROK2 and PROKR2 genes were excluded. 19021638

2009

Entrez Id: 3730
Gene Symbol: ANOS1
ANOS1
CUI: C0162809
Disease: Kallmann Syndrome
Kallmann Syndrome
0.700 Biomarker BEFREE KAL1 encodes the cell membrane and extracellular matrix-associated secreted protein anosmin-1 which is implicated in the X-linked form of KS. 18034870

2008

Entrez Id: 3730
Gene Symbol: ANOS1
ANOS1
CUI: C0162809
Disease: Kallmann Syndrome
Kallmann Syndrome
0.700 GeneticVariation BEFREE Indeed, one of these patients was also carrying a missense mutation in KAL1, the gene responsible for the X chromosome-linked form of Kallmann syndrome. 18285834

2008

Entrez Id: 3730
Gene Symbol: ANOS1
ANOS1
CUI: C0162809
Disease: Kallmann Syndrome
Kallmann Syndrome
0.700 GeneticVariation BEFREE X-linked Kallmann syndrome (KS) is caused mainly by point mutations, in the KAL1 gene. 18259106

2008

Entrez Id: 3730
Gene Symbol: ANOS1
ANOS1
CUI: C0162809
Disease: Kallmann Syndrome
Kallmann Syndrome
0.700 GeneticVariation BEFREE FGFR1 and anosmin-1 underlying genetically distinct forms of Kallmann syndrome are co-expressed and interact in olfactory bulbs. 17186267

2007

Entrez Id: 3730
Gene Symbol: ANOS1
ANOS1
CUI: C0162809
Disease: Kallmann Syndrome
Kallmann Syndrome
0.700 GeneticVariation BEFREE Two KS-related loci are currently known: KAL1, encoding anosmin-1, responsible for X-linked KS, and KAL2, encoding the fibroblast growth factor receptor 1 (FGFR1), mutated in autosomal dominant KS. 17191030

2007

Entrez Id: 3730
Gene Symbol: ANOS1
ANOS1
CUI: C0162809
Disease: Kallmann Syndrome
Kallmann Syndrome
0.700 GeneticVariation BEFREE This low prevalence of KAL1 mutations indicates that other genes, such as the fibroblast growth factor receptor 1 (FGFR1) gene or other as yet undiscovered genes, epigenetic events and/or environmental factors might be involved in the aetiology and phenotypic variability of KS. 17223984

2007

Entrez Id: 3730
Gene Symbol: ANOS1
ANOS1
CUI: C0162809
Disease: Kallmann Syndrome
Kallmann Syndrome
0.700 GeneticVariation BEFREE Herein, we describe the first mutation in KAL1 in a patient with reversible KS and review the literature. 17322486

2007

Entrez Id: 3730
Gene Symbol: ANOS1
ANOS1
CUI: C0162809
Disease: Kallmann Syndrome
Kallmann Syndrome
0.700 GeneticVariation BEFREE The phenotype of renal agenesis/dysgenesis strongly indicates the existence of KAL1 gene defects in the genotype of patients with sporadic KS, providing evidence for the X-linked mode of inheritance and offering the opportunity for genetic counseling. 17603054

2007

Entrez Id: 3730
Gene Symbol: ANOS1
ANOS1
CUI: C0162809
Disease: Kallmann Syndrome
Kallmann Syndrome
0.700 GeneticVariation LHGDN The phenotype of renal agenesis/dysgenesis strongly indicates the existence of KAL1 gene defects in the genotype of patients with sporadic KS, providing evidence for the X-linked mode of inheritance and offering the opportunity for genetic counseling. 17603054

2007

Entrez Id: 3730
Gene Symbol: ANOS1
ANOS1
CUI: C0162809
Disease: Kallmann Syndrome
Kallmann Syndrome
0.700 GeneticVariation BEFREE Mutations in KAL1 are known to account for some of the cases of Kallmann syndrome. 17213338

2007

Entrez Id: 3730
Gene Symbol: ANOS1
ANOS1
CUI: C0162809
Disease: Kallmann Syndrome
Kallmann Syndrome
0.700 Biomarker BEFREE Anosmin-1 is the protein that is defective in the X-linked form of human Kallmann syndrome. 16876430

2006

Entrez Id: 3730
Gene Symbol: ANOS1
ANOS1
CUI: C0162809
Disease: Kallmann Syndrome
Kallmann Syndrome
0.700 Biomarker BEFREE Several of these genes are associated with known disorders, like KAL1 (Kallmann syndrome), steroid sulfatase (STS) (X-linked ichtyosis), and arylsulfatase E (ARSE) (chondrodysplasia punctata). 16470742

2006

Entrez Id: 3730
Gene Symbol: ANOS1
ANOS1
CUI: C0162809
Disease: Kallmann Syndrome
Kallmann Syndrome
0.700 GeneticVariation BEFREE Mutations in KAL1 and FGFR1 cause Kallmann syndrome (KS), whereas mutations in the GNRHR and GPR54 genes cause idiopathic hypogonadotropic hypogonadism with normal olfaction (nIHH). 16606836

2006

Entrez Id: 3730
Gene Symbol: ANOS1
ANOS1
CUI: C0162809
Disease: Kallmann Syndrome
Kallmann Syndrome
0.700 GeneticVariation BEFREE Mutations in KAL1 causing the X-linked form of KS have been identified in 10% of all KS patients and consistently result in a severe reproductive phenotype. 16764984

2006