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 GeneticVariation BEFREE Novel homozygous deletion of segmental KAL1 and entire STS cause Kallmann syndrome and X-linked ichthyosis in a Chinese family. 25597551

2016

Entrez Id: 3730
Gene Symbol: ANOS1
ANOS1
CUI: C0162809
Disease: Kallmann Syndrome
Kallmann Syndrome
0.700 GeneticVariation BEFREE Kallmann syndrome with FGFR1 and KAL1 mutations detected during fetal life. 26051373

2016

Entrez Id: 3730
Gene Symbol: ANOS1
ANOS1
CUI: C0162809
Disease: Kallmann Syndrome
Kallmann Syndrome
0.700 Biomarker BEFREE KAL1 is implicated in 5% of Kallmann syndrome cases, a disorder which genotypically overlaps with septo-optic dysplasia (SOD). 26375424

2016

Entrez Id: 3730
Gene Symbol: ANOS1
ANOS1
CUI: C0162809
Disease: Kallmann Syndrome
Kallmann Syndrome
0.700 GeneticVariation BEFREE Point mutations in KAL1 and the mitochondrial gene MT-tRNA(cys) synergize to produce Kallmann syndrome phenotype. 26278626

2016

Entrez Id: 3730
Gene Symbol: ANOS1
ANOS1
CUI: C0162809
Disease: Kallmann Syndrome
Kallmann Syndrome
0.700 GeneticVariation BEFREE The introduction in anosmin-1 of the missense mutation F517L found in patients suffering from KS annulled the chemotactic activity; however, the mutant form carrying the disease-causing mutation E514K also found in KS patients, behaved as the wild-type protein. 24375670

2015

Entrez Id: 3730
Gene Symbol: ANOS1
ANOS1
CUI: C0162809
Disease: Kallmann Syndrome
Kallmann Syndrome
0.700 GeneticVariation UNIPROT The prevalence of CHD7 missense versus truncating mutations is higher in patients with Kallmann syndrome than in typical CHARGE patients. 25077900

2015

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

2015

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 Biomarker BEFREE Even though it is a genotypically and phenotypically heterogeneous clinical disease, there are some key genes related to KS (KAL1, FGFR1 (KAL2), GNRHR, KISSR1 (GPR54), GNRH1, NELF and PROK2). 24776628

2014

Entrez Id: 3730
Gene Symbol: ANOS1
ANOS1
CUI: C0162809
Disease: Kallmann Syndrome
Kallmann Syndrome
0.700 GeneticVariation BEFREE Genome-wide array analysis identified a large deletion of KAL1 in both patients confirming the diagnosis of Kallmann syndrome. 24232061

2014

Entrez Id: 3730
Gene Symbol: ANOS1
ANOS1
CUI: C0162809
Disease: Kallmann Syndrome
Kallmann Syndrome
0.700 GeneticVariation BEFREE Loss-of-function mutations of KAL1 results in Kallmann syndrome with delayed puberty and anosmia. 24189182

2014

Entrez Id: 3730
Gene Symbol: ANOS1
ANOS1
CUI: C0162809
Disease: Kallmann Syndrome
Kallmann Syndrome
0.700 GeneticVariation BEFREE The protein anosmin-1, coded by the KAL1 gene responsible for the X-linked form of Kallmann syndrome (KS), exerts its biological effects mainly through the interaction with and signal modulation of fibroblast growth factor receptor 1 (FGFR1). 23189990

2013

Entrez Id: 3730
Gene Symbol: ANOS1
ANOS1
CUI: C0162809
Disease: Kallmann Syndrome
Kallmann Syndrome
0.700 Biomarker BEFREE Combined use of multiplex ligation-dependent probe amplification and automatic sequencing for identification of KAL1 defects in patients with Kallmann syndrome. 23721716

2013

Entrez Id: 3730
Gene Symbol: ANOS1
ANOS1
CUI: C0162809
Disease: Kallmann Syndrome
Kallmann Syndrome
0.700 GeneticVariation BEFREE The KAL1 pVal610Ile mutation is a recessive mutation causing Kallmann syndrome. 23410897

2013

Entrez Id: 3730
Gene Symbol: ANOS1
ANOS1
CUI: C0162809
Disease: Kallmann Syndrome
Kallmann Syndrome
0.700 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: 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 We performed CHD7 analysis in a cohort of 36 clinically well-characterized Dutch patients with KS but without mutations in KAL1 and with known status for the KS genes with incomplete penetrance, FGFR1, PROK2, PROKR2, and FGF8. 22399515

2012

Entrez Id: 3730
Gene Symbol: ANOS1
ANOS1
CUI: C0162809
Disease: Kallmann Syndrome
Kallmann Syndrome
0.700 GeneticVariation BEFREE 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: C0162809
Disease: Kallmann Syndrome
Kallmann Syndrome
0.700 GeneticVariation BEFREE 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: 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 GeneticVariation UNIPROT We identified 3 mutations, including 2 novel mutations, in the KAL1 gene in patients with KS in Taiwan. 20530987

2011

Entrez Id: 3730
Gene Symbol: ANOS1
ANOS1
CUI: C0162809
Disease: Kallmann Syndrome
Kallmann Syndrome
0.700 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: C0162809
Disease: Kallmann Syndrome
Kallmann Syndrome
0.700 GeneticVariation UNIPROT 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 UNIPROT To identify mutations in the KAL1, the KAL2, and PROKR2/PROK2 genes and to characterize phenotypic features in 5 Chinese subjects with Kallmann Syndrome (KS) and 6 subjects with normosmic hypogonadotrophic hypogonadism (NHH) in Taiwan. 20530987

2011

Entrez Id: 3730
Gene Symbol: ANOS1
ANOS1
CUI: C0162809
Disease: Kallmann Syndrome
Kallmann Syndrome
0.700 GeneticVariation UNIPROT 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