PROK2, prokineticin 2, 60675

N. diseases: 151; N. variants: 11
Disease: HYPOGONADOTROPIC HYPOGONADISM 4 WITH OR WITHOUT ANOSMIA ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3552343
Disease: HYPOGONADOTROPIC HYPOGONADISM 4 WITH OR WITHOUT ANOSMIA
HYPOGONADOTROPIC HYPOGONADISM 4 WITH OR WITHOUT ANOSMIA 		0.600 Biomarker disease GENOMICS_ENGLAND Prenatal exome sequencing analysis in fetal structural anomalies detected by ultrasonography (PAGE): a cohort study. 30712880 2019
CUI: C3552343
Disease: HYPOGONADOTROPIC HYPOGONADISM 4 WITH OR WITHOUT ANOSMIA
HYPOGONADOTROPIC HYPOGONADISM 4 WITH OR WITHOUT ANOSMIA 		0.600 GeneticVariation disease UNIPROT The prevalence of CHD7 missense versus truncating mutations is higher in patients with Kallmann syndrome than in typical CHARGE patients. 25077900 2014
CUI: C3552343
Disease: HYPOGONADOTROPIC HYPOGONADISM 4 WITH OR WITHOUT ANOSMIA
HYPOGONADOTROPIC HYPOGONADISM 4 WITH OR WITHOUT ANOSMIA 		0.600 GeneticVariation disease UNIPROT Mutations in FGF17, IL17RD, DUSP6, SPRY4, and FLRT3 are identified in individuals with congenital hypogonadotropic hypogonadism. 23643382 2013
CUI: C3552343
Disease: HYPOGONADOTROPIC HYPOGONADISM 4 WITH OR WITHOUT ANOSMIA
HYPOGONADOTROPIC HYPOGONADISM 4 WITH OR WITHOUT ANOSMIA 		0.600 Biomarker disease GENOMICS_ENGLAND Mutations in prokineticin 2 and prokineticin receptor 2 genes in human gonadotrophin-releasing hormone deficiency: molecular genetics and clinical spectrum. 18559922 2008
CUI: C3552343
Disease: HYPOGONADOTROPIC HYPOGONADISM 4 WITH OR WITHOUT ANOSMIA
HYPOGONADOTROPIC HYPOGONADISM 4 WITH OR WITHOUT ANOSMIA 		0.600 GeneticVariation disease UNIPROT Mutations in prokineticin 2 and prokineticin receptor 2 genes in human gonadotrophin-releasing hormone deficiency: molecular genetics and clinical spectrum. 18559922 2008
CUI: C3552343
Disease: HYPOGONADOTROPIC HYPOGONADISM 4 WITH OR WITHOUT ANOSMIA
HYPOGONADOTROPIC HYPOGONADISM 4 WITH OR WITHOUT ANOSMIA 		0.600 GeneticVariation disease UNIPROT Kallmann syndrome: mutations in the genes encoding prokineticin-2 and prokineticin receptor-2. 17054399 2006
CUI: C3552343
Disease: HYPOGONADOTROPIC HYPOGONADISM 4 WITH OR WITHOUT ANOSMIA
HYPOGONADOTROPIC HYPOGONADISM 4 WITH OR WITHOUT ANOSMIA 		0.600 CausalMutation disease CLINVAR