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 Biomarker BEFREE A total of 103 patients with either CPHD (n = 35) or SOD (n = 68) were investigated for mutations in genes implicated in the etiology of KS (FGFR1, FGF8, PROKR2, PROK2, and KAL1). 22319038

2012

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 Kallmann syndrome (KS) is defined by the combination of isolated hypogonadotrophic hypogonadism (IHH) and anosmia, with renal agenesis occurring in 30% of KS cases with KAL1 gene mutations. 25227403

2014

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 GeneticVariation BEFREE This was a novel mutation in the KAL1 gene and was responsible for Kallmann syndrome. 11124862

2000

Entrez Id: 3730
Gene Symbol: ANOS1
ANOS1
CUI: C0162809
Disease: Kallmann Syndrome
Kallmann Syndrome
0.700 GeneticVariation BEFREE A defective anosmin-1 molecule may also play a role in the development of synkinesia and renal agenesis, which are exclusively seen in the X-linked form of KS. 11044805

2000

Entrez Id: 3730
Gene Symbol: ANOS1
ANOS1
CUI: C0162809
Disease: Kallmann Syndrome
Kallmann Syndrome
0.700 GeneticVariation BEFREE Both deletions were shown to include the entire KAL gene responsible for X-linked KS. 8473391

1993

Entrez Id: 3730
Gene Symbol: ANOS1
ANOS1
CUI: C0162809
Disease: Kallmann Syndrome
Kallmann Syndrome
0.700 Biomarker BEFREE Moreover, the copy number variants on Xp22.31 were located in the intron of KAL1, which causes X-linked KS. 21042300

2011

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 GeneticVariation BEFREE Loss-of-function mutations of the KAL1 gene are a known cause of Kallmann syndrome, a disorder characterized by the coexistence of hypogonadotropic hypogonadism and anosmia/hiposmia. 25339597

2015

Entrez Id: 3730
Gene Symbol: ANOS1
ANOS1
CUI: C0162809
Disease: Kallmann Syndrome
Kallmann Syndrome
0.700 GeneticVariation BEFREE A novel aminoterminal mutation in the KAL-1 gene in a large pedigree with X-linked Kallmann syndrome. 9787096

1998

Entrez Id: 3730
Gene Symbol: ANOS1
ANOS1
CUI: C0162809
Disease: Kallmann Syndrome
Kallmann Syndrome
0.700 GeneticVariation BEFREE Variable penetrance of hypogonadism in a sibship with Kallmann syndrome due to a deletion of the KAL gene. 7677154

1995

Entrez Id: 3730
Gene Symbol: ANOS1
ANOS1
CUI: C0162809
Disease: Kallmann Syndrome
Kallmann Syndrome
0.700 Biomarker BEFREE Based on the distribution of anosmin-1 in the early olfactory system, the pathogenesis of the olfactory loss and GnRH deficiency in X-linked Kallmann syndrome is discussed. 11420131

2001

Entrez Id: 3730
Gene Symbol: ANOS1
ANOS1
CUI: C0162809
Disease: Kallmann Syndrome
Kallmann Syndrome
0.700 GeneticVariation BEFREE Heparan sulfate proteoglycan-dependent induction of axon branching and axon misrouting by the Kallmann syndrome gene kal-1. 11983919

2002

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 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 FISH is a useful tool for the detection of KAL-1 deletion in people with normal karyotypes but features consistent with Kallmann syndrome. 10443071

1999

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 Characterization of the two zebrafish orthologues of the KAL-1 gene underlying X chromosome-linked Kallmann syndrome. 10585565

2000

Entrez Id: 3730
Gene Symbol: ANOS1
ANOS1
CUI: C0162809
Disease: Kallmann Syndrome
Kallmann Syndrome
0.700 GeneticVariation BEFREE The frequency of Kallmann syndrome (hypogonadotropic hypogonadism and anosmia, HHA) was estimated in patients presenting with hypogonadism and patients with anosmia.Of 791 hypogonadal males 19 had HHA. 3101500

1987

Entrez Id: 3730
Gene Symbol: ANOS1
ANOS1
CUI: C0162809
Disease: Kallmann Syndrome
Kallmann Syndrome
0.700 Biomarker BEFREE Linkage analysis using informative microsatellite markers predicts that a gene other than KAL1 (at Xp22.3) is implicated in the Kallmann's syndrome manifesting concurrently with ovarian dysgenesis found in this family. 10325262

1999

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 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 Biomarker BEFREE These results strongly suggest an involvement of anosmin-1 in the control of the migratory behaviour of GnRH neurons and provide novel information on the pathogenesis of KS. 15471890

2004

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