PROK2, prokineticin 2, 60675

N. diseases: 15; N. variants: 10
Source: CURATED ×
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: C0162809
Disease: Kallmann Syndrome
Kallmann Syndrome 		0.600 GermlineCausalMutation disease ORPHANET In addition, we show that PROKR2 haploinsufficiency is not sufficient to cause Kallmann syndrome or normosmic HH, whereas homozygous loss-of-function mutations either in PROKR2 or PROK2 are sufficient to cause disease phenotype, in accordance with the Prokr2 and Prok2 knockout mouse models. 18682503 2008
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: C0162809
Disease: Kallmann Syndrome
Kallmann Syndrome 		0.600 Biomarker disease CTD_human
CUI: C1269683
Disease: Major Depressive Disorder
Major Depressive Disorder 		0.320 Biomarker disease PSYGENET Based on LPS-stimulated blood gene expression using whole-genome microarrays (primary cohort; 21 MDD patients, 21 healthy control subjects), we identified a set of genes (CAPRIN1, CLEC4A, KRT23, MLC1, PLSCR1, PROK2, ZBTB16) that serves as a molecular signature of MDD. 20471630 2010
CUI: C0525045
Disease: Mood Disorders
Mood Disorders 		0.320 Biomarker group PSYGENET To evaluate the association between PROK2, PROKR2, and mood disorders, we conducted a case-control study of Japanese samples (151 bipolar patients, 319 major depressive disorder patients, and 340 controls) with four and five tagging SNPs in PROK2 or PROKR2, respectively, selected by HapMap database. 19544013 2009
CUI: C1269683
Disease: Major Depressive Disorder
Major Depressive Disorder 		0.320 Biomarker disease PSYGENET To evaluate the association between PROK2, PROKR2, and mood disorders, we conducted a case-control study of Japanese samples (151 bipolar patients, 319 major depressive disorder patients, and 340 controls) with four and five tagging SNPs in PROK2 or PROKR2, respectively, selected by HapMap database. 19544013 2009
CUI: C0041696
Disease: Unipolar Depression
Unipolar Depression 		0.310 Biomarker disease PSYGENET Stimulated gene expression profiles as a blood marker of major depressive disorder. 20471630 2010
CUI: C0041696
Disease: Unipolar Depression
Unipolar Depression 		0.310 Biomarker disease PSYGENET To evaluate the association between PROK2, PROKR2, and mood disorders, we conducted a case-control study of Japanese samples (151 bipolar patients, 319 major depressive disorder patients, and 340 controls) with four and five tagging SNPs in PROK2 or PROKR2, respectively, selected by HapMap database. 19544013 2009
CUI: C0020429
Disease: Hyperalgesia
Hyperalgesia 		0.300 Biomarker phenotype CTD_human Impaired nociception and inflammatory pain sensation in mice lacking the prokineticin receptor PKR1: focus on interaction between PKR1 and the capsaicin receptor TRPV1 in pain behavior. 16793879 2006
CUI: C0458247
Disease: Allodynia
Allodynia 		0.300 Biomarker phenotype CTD_human Impaired nociception and inflammatory pain sensation in mice lacking the prokineticin receptor PKR1: focus on interaction between PKR1 and the capsaicin receptor TRPV1 in pain behavior. 16793879 2006
CUI: C0751211
Disease: Hyperalgesia, Primary
Hyperalgesia, Primary 		0.300 Biomarker phenotype CTD_human Impaired nociception and inflammatory pain sensation in mice lacking the prokineticin receptor PKR1: focus on interaction between PKR1 and the capsaicin receptor TRPV1 in pain behavior. 16793879 2006
CUI: C0751212
Disease: Hyperalgesia, Secondary
Hyperalgesia, Secondary 		0.300 Biomarker phenotype CTD_human Impaired nociception and inflammatory pain sensation in mice lacking the prokineticin receptor PKR1: focus on interaction between PKR1 and the capsaicin receptor TRPV1 in pain behavior. 16793879 2006
CUI: C0751213
Disease: Tactile Allodynia
Tactile Allodynia 		0.300 Biomarker phenotype CTD_human Impaired nociception and inflammatory pain sensation in mice lacking the prokineticin receptor PKR1: focus on interaction between PKR1 and the capsaicin receptor TRPV1 in pain behavior. 16793879 2006
CUI: C0751214
Disease: Hyperalgesia, Thermal
Hyperalgesia, Thermal 		0.300 Biomarker phenotype CTD_human Impaired nociception and inflammatory pain sensation in mice lacking the prokineticin receptor PKR1: focus on interaction between PKR1 and the capsaicin receptor TRPV1 in pain behavior. 16793879 2006
CUI: C2936719
Disease: Mechanical Allodynia
Mechanical Allodynia 		0.300 Biomarker phenotype CTD_human Impaired nociception and inflammatory pain sensation in mice lacking the prokineticin receptor PKR1: focus on interaction between PKR1 and the capsaicin receptor TRPV1 in pain behavior. 16793879 2006
CUI: C1563719
Disease: Kallmann Syndrome 1
Kallmann Syndrome 1 		0.300 Biomarker disease CTD_human
CUI: C1563720
Disease: Kallmann Syndrome 2 (disorder)
Kallmann Syndrome 2 (disorder) 		0.300 Biomarker disease CTD_human
CUI: C2930927
Disease: Kallmann syndrome, type 3, recessive
Kallmann syndrome, type 3, recessive 		0.300 Biomarker disease CTD_human