Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 60675
Gene Symbol: PROK2
PROK2
0.050 Biomarker disease BEFREE Based on the phenotypes of knockout mice, PROKR2 and PROK2 have recently been identified as causative genes for idiopathic hypogonadotropic hypogonadism, a developmental disorder characterized by impaired development of gonadotropin-releasing hormone neurons and infertility. 30711026 2019
Entrez Id: 60675
Gene Symbol: PROK2
PROK2
0.050 GeneticVariation disease BEFREE We detected that of the 86 patients, three with KS had a deletion of the KAL1 gene in exon 9, one of whom also carried a duplicationin exon 11; and three with nIHH had a duplication of the PROK2 gene in exon 3; a deletion of the GNRHR gene in exon 1; anda duplication of the same gene in exon 2, respectively. 24002956 2013
Entrez Id: 60675
Gene Symbol: PROK2
PROK2
0.050 GeneticVariation disease BEFREE Certain genes, including PROK2 and FGFR1, are associated with both anosmic and normosmic IHH. 19707180 2009
Entrez Id: 60675
Gene Symbol: PROK2
PROK2
0.050 GeneticVariation disease BEFREE We aimed to screen a large cohort of patients with Kallmann syndrome (KS) and normosmic idiopathic hypogonadotropic hypogonadism (IHH) for mutations in PROK2/PROKR2, evaluate their prevalence, define the genotype/phenotype relationship, and assess the functionality of these mutant alleles in vitro. 18559922 2008
Entrez Id: 60675
Gene Symbol: PROK2
PROK2
0.050 GeneticVariation disease BEFREE Loss-of-function mutation in the prokineticin 2 gene causes Kallmann syndrome and normosmic idiopathic hypogonadotropic hypogonadism. 17959774 2007