Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 55717
Gene Symbol: WDR11
WDR11 		0.740 Biomarker disease MGD
Entrez Id: 55717
Gene Symbol: WDR11
WDR11 		0.740 Biomarker disease GENOMICS_ENGLAND
Entrez Id: 3730
Gene Symbol: ANOS1
ANOS1 		0.700 Biomarker disease CTD_human
Entrez Id: 128674
Gene Symbol: PROKR2
PROKR2 		0.700 Biomarker disease CTD_human
Entrez Id: 55636
Gene Symbol: CHD7
CHD7 		0.600 Biomarker disease CTD_human
Entrez Id: 2260
Gene Symbol: FGFR1
FGFR1 		0.600 Biomarker disease CTD_human
Entrez Id: 60675
Gene Symbol: PROK2
PROK2 		0.600 Biomarker disease CTD_human
Entrez Id: 2253
Gene Symbol: FGF8
FGF8 		0.560 Biomarker disease CTD_human
Entrez Id: 6663
Gene Symbol: SOX10
SOX10 		0.550 Biomarker disease MGD
Entrez Id: 2516
Gene Symbol: NR5A1
NR5A1 		0.200 Biomarker disease MGD
Entrez Id: 3730
Gene Symbol: ANOS1
ANOS1 		0.700 GeneticVariation disease BEFREE Kallmann syndrome due to KAL gene mutations and adrenal hypoplasia congenita/HH caused by AHC gene mutations are both X-linked recessive disorders. 10527669 1999
Entrez Id: 5267
Gene Symbol: SERPINA4
SERPINA4 		0.100 GeneticVariation disease BEFREE Kallmann syndrome due to KAL gene mutations and adrenal hypoplasia congenita/HH caused by AHC gene mutations are both X-linked recessive disorders. 10527669 1999
Entrez Id: 2798
Gene Symbol: GNRHR
GNRHR 		0.290 GeneticVariation disease BEFREE Kallman syndrome 1 (KAL-1) gene analysis was performed in all patients and the gonadotrophin releasing hormone receptor (GnRH-R) gene was investigated in nHH patients using PCR analysis with exon-flanking primers followed by automated sequencing techniques. 16423815 2005
Entrez Id: 55636
Gene Symbol: CHD7
CHD7 		0.600 GeneticVariation disease BEFREE Kallmann syndrome phenotype in a female patient with CHARGE syndrome and CHD7 mutation. 16960397 2006
Entrez Id: 128674
Gene Symbol: PROKR2
PROKR2 		0.700 Biomarker disease GENOMICS_ENGLAND Kallmann syndrome: mutations in the genes encoding prokineticin-2 and prokineticin receptor-2. 17054399 2006
Entrez Id: 2260
Gene Symbol: FGFR1
FGFR1 		0.600 GeneticVariation disease BEFREE Kallmann syndrome in a female adolescent: a new mutation in the FGFR1 gene. 22751423 2012
Entrez Id: 3730
Gene Symbol: ANOS1
ANOS1 		0.700 GeneticVariation disease 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 		0.700 GeneticVariation disease BEFREE Kallmann syndrome with FGFR1 and KAL1 mutations detected during fetal life. 26051373 2015
Entrez Id: 128674
Gene Symbol: PROKR2
PROKR2 		0.700 GeneticVariation disease BEFREE Kallmann syndrome with a Tyr113His PROKR2 mutation. 28858133 2017
Entrez Id: 960
Gene Symbol: CD44
CD44 		0.010 Biomarker disease BEFREE Heparan sulfate proteoglycan-dependent induction of axon branching and axon misrouting by the Kallmann syndrome gene kal-1. 11983919 2002
Entrez Id: 26012
Gene Symbol: NSMF
NSMF 		0.340 GeneticVariation disease BEFREE Nasal embryonic LHRH factor (NELF) and early B-cell factor 2 (EBF2) exons were evaluated in KAL-1/GnRH-R mutation-negative cases (seven KS and five nHH) by sequence analysis but no mutations were identified in the coding regions in these patients. 16423815 2005
Entrez Id: 3730
Gene Symbol: ANOS1
ANOS1 		0.700 Biomarker disease BEFREE Anosmin-1 is the protein that is defective in the X-linked form of human Kallmann syndrome. 16876430 2006
Entrez Id: 2260
Gene Symbol: FGFR1
FGFR1 		0.600 GeneticVariation disease 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 		0.700 Biomarker disease 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: 2260
Gene Symbol: FGFR1
FGFR1 		0.600 GeneticVariation disease BEFREE KAL2, identified as the fibroblast growth factor receptor 1 (FGFR1) gene, has now been recognised to be the underlying genetic defect for an autosomal dominant form of KS. 18034870 2008