Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 60675
Gene Symbol: PROK2
PROK2 		0.600 GeneticVariation disease BEFREE Prokineticin 2 (Prok2) or prokineticin-receptor2 (Prok-R2) gene mutations are associated with Kallmann syndrome (KS). 18596028 2008
Entrez Id: 128674
Gene Symbol: PROKR2
PROKR2 		0.700 GeneticVariation disease BEFREE PROKR2 missense mutations associated with Kallmann syndrome impair receptor signalling activity. 18826963 2009
Entrez Id: 128674
Gene Symbol: PROKR2
PROKR2 		0.700 GeneticVariation disease LHGDN PROKR2 missense mutations associated with Kallmann syndrome impair receptor signalling activity. 18826963 2009
Entrez Id: 2260
Gene Symbol: FGFR1
FGFR1 		0.600 GeneticVariation disease BEFREE FGFR1 mutations have been identified in about 10% of patients with Kallmann syndrome. 19820032 2009
Entrez Id: 3730
Gene Symbol: ANOS1
ANOS1 		0.700 Biomarker disease 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: 55717
Gene Symbol: WDR11
WDR11 		0.740 GermlineCausalMutation disease ORPHANET WDR11, a WD protein that interacts with transcription factor EMX1, is mutated in idiopathic hypogonadotropic hypogonadism and Kallmann syndrome. 20887964 2010
Entrez Id: 55717
Gene Symbol: WDR11
WDR11 		0.740 AlteredExpression disease BEFREE WDR11, a WD protein that interacts with transcription factor EMX1, is mutated in idiopathic hypogonadotropic hypogonadism and Kallmann syndrome. 20887964 2010
Entrez Id: 55636
Gene Symbol: CHD7
CHD7 		0.600 GeneticVariation disease BEFREE CHD7 mutations have also been found in some patients with Kallmann syndrome, hypogonadotrophic hypogonadism, and anosmia, and we discuss the overlap between this syndrome and CHARGE syndrome. 21041284 2010
Entrez Id: 10371
Gene Symbol: SEMA3A
SEMA3A 		0.360 Biomarker disease BEFREE SEMA3A is therefore a new gene whose loss-of-function is involved in KS. 22416012 2012
Entrez Id: 10371
Gene Symbol: SEMA3A
SEMA3A 		0.360 GermlineCausalMutation disease ORPHANET SEMA3A is therefore a new gene whose loss-of-function is involved in KS. 22416012 2012
Entrez Id: 10371
Gene Symbol: SEMA3A
SEMA3A 		0.360 GeneticVariation disease BEFREE SEMA3A, a gene involved in axonal pathfinding, is mutated in patients with Kallmann syndrome. 22927827 2012
Entrez Id: 128674
Gene Symbol: PROKR2
PROKR2 		0.700 GeneticVariation disease BEFREE PROKR2 mutations in autosomal recessive Kallmann syndrome. 23200691 2013
Entrez Id: 2260
Gene Symbol: FGFR1
FGFR1 		0.600 GeneticVariation disease BEFREE FGFR1 mutations have been identified in both Kallmann syndrome and normosmic HH (nIHH). 23276709 2013
Entrez Id: 10371
Gene Symbol: SEMA3A
SEMA3A 		0.360 Biomarker disease BEFREE SEMA3A and SEMA7A were screened by Sanger sequencing in altogether 50 Finnish HH patients (34 with Kallmann syndrome (KS; HH with hyposmia/anosmia) and 16 with normosmic HH (nHH)). 24522099 2014
Entrez Id: 55717
Gene Symbol: WDR11
WDR11 		0.740 Biomarker disease BEFREE WDR11 was linked to idiopathic hypogonadotropic hypogonadism and Kallmann syndrome. 26114870 2015
Entrez Id: 3730
Gene Symbol: ANOS1
ANOS1 		0.700 Biomarker disease BEFREE KAL1 is implicated in 5% of Kallmann syndrome cases, a disorder which genotypically overlaps with septo-optic dysplasia (SOD). 26375424 2015
Entrez Id: 285025
Gene Symbol: CCDC141
CCDC141 		0.320 GeneticVariation disease BEFREE CCDC141 Mutation Identified in Anosmic Hypogonadotropic Hypogonadism (Kallmann Syndrome) Alters GnRH Neuronal Migration. 27014940 2016
Entrez Id: 2260
Gene Symbol: FGFR1
FGFR1 		0.600 Biomarker disease BEFREE Fibroblast growth factor receptor 1 (FGFR1) is one of KS-associated genes, accounts for approximately 10% of total patients. 28411082 2017
Entrez Id: 2260
Gene Symbol: FGFR1
FGFR1 		0.600 GeneticVariation disease BEFREE Fibroblast growth factor receptor 1 (FGFR1), a tyrosine kinase receptor, was one of the first genes whose mutations were identified as causative in KS FGFR1 is responsible for the formation of the GnRH neuron system. 28778954 2017
Entrez Id: 55717
Gene Symbol: WDR11
WDR11 		0.740 Biomarker disease BEFREE WDR11-mediated Hedgehog signalling defects underlie a new ciliopathy related to Kallmann syndrome. 29263200 2018
Entrez Id: 55636
Gene Symbol: CHD7
CHD7 		0.600 AlteredExpression disease BEFREE Chd7 regulates the expression of Sema3a, which also contributes to the pathogenesis of Kallmann syndrome, a heterogeneous condition with the typical features hypogonadotropic hypogonadism and an impaired sense of smell. 29432577 2018
Entrez Id: 5361
Gene Symbol: PLXNA1
PLXNA1 		0.020 Biomarker disease BEFREE PLXNA1 has recently been implicated in the GnRH neuron migration and the etiology of KS. 30467832 2019
Entrez Id: 3730
Gene Symbol: ANOS1
ANOS1 		0.700 GeneticVariation disease BEFREE KAL, a gene mutated in Kallmann's syndrome, is expressed in the first trimester of human development. 7545624 1995
Entrez Id: 5267
Gene Symbol: SERPINA4
SERPINA4 		0.100 GeneticVariation disease BEFREE KAL, a gene mutated in Kallmann's syndrome, is expressed in the first trimester of human development. 7545624 1995
Entrez Id: 3730
Gene Symbol: ANOS1
ANOS1 		0.700 GeneticVariation disease 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