PRLR, prolactin receptor, 5618

N. diseases: 110; N. variants: 15
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0020514
Disease: Hyperprolactinemia
Hyperprolactinemia 		0.760 Biomarker disease BEFREE Similarly, genetic studies have begun to reveal how differences in prolactin receptor function may account for some of the previously 'idiopathic' cases of hyperprolactinemia and bring to light new causes of prolactinomas. 31045655 2019
CUI: C0020514
Disease: Hyperprolactinemia
Hyperprolactinemia 		0.760 Biomarker disease BEFREE Variant Prolactin Receptor in Agalactia and Hyperprolactinemia. 30575453 2018
CUI: C0020514
Disease: Hyperprolactinemia
Hyperprolactinemia 		0.760 AlteredExpression disease BEFREE Downregulation of Prlr gene expression in the duodenum may explain the diminished intestinal calcium absorption in medicamentous hyperprolactinaemia. 30143940 2018
CUI: C0020514
Disease: Hyperprolactinemia
Hyperprolactinemia 		0.760 AlteredExpression disease BEFREE Both purinergic and prolactin receptor expression changes occur during the anti-asthmatic effect of hyperprolactinemia. 29874677 2018
CUI: C0020514
Disease: Hyperprolactinemia
Hyperprolactinemia 		0.760 Biomarker disease BEFREE Antipsychotics are the most common pharmacological agents which cause hyperprolactinemia The aim of this review is to describe PRL physiology, PRL biological effects and pathway to the diagnosis, causes, consequences of HPRL focusing on the antipsychotic effects on the PRL. 28440197 2017
CUI: C0020514
Disease: Hyperprolactinemia
Hyperprolactinemia 		0.760 GeneticVariation disease BEFREE We focus on the role of prolactin in human pathophysiology, particularly the discovery of the mechanism underlying infertility associated with hyperprolactinaemia and the identification of the first mutation in human PRLR. 25781857 2015
CUI: C0020514
Disease: Hyperprolactinemia
Hyperprolactinemia 		0.760 GermlineCausalMutation disease ORPHANET Mutant prolactin receptor and familial hyperprolactinemia. 24195502 2013
CUI: C0020514
Disease: Hyperprolactinemia
Hyperprolactinemia 		0.760 GeneticVariation disease UNIPROT Mutant prolactin receptor and familial hyperprolactinemia. 24195502 2013
CUI: C0020514
Disease: Hyperprolactinemia
Hyperprolactinemia 		0.760 CausalMutation disease CLINVAR
CUI: C0020514
Disease: Hyperprolactinemia
Hyperprolactinemia 		0.760 Biomarker disease CTD_human
CUI: C3809918
Disease: MULTIPLE FIBROADENOMAS OF THE BREAST
MULTIPLE FIBROADENOMAS OF THE BREAST 		0.600 GeneticVariation disease UNIPROT Identification of a gain-of-function mutation of the prolactin receptor in women with benign breast tumors. 18779591 2008
CUI: C3809918
Disease: MULTIPLE FIBROADENOMAS OF THE BREAST
MULTIPLE FIBROADENOMAS OF THE BREAST 		0.600 Biomarker disease CTD_human
CUI: C3809918
Disease: MULTIPLE FIBROADENOMAS OF THE BREAST
MULTIPLE FIBROADENOMAS OF THE BREAST 		0.600 CausalMutation disease CLINVAR
CUI: C4552766
Disease: Miscarriage
Miscarriage 		0.310 GeneticVariation disease BEFREE Genotype distribution at an SNP (rs37389) in the prolactin receptor gene (P = 0.03), and allele distributions at an SNP (rs41423247) in the glucocorticoid receptor gene (P = 0.04) and an STR polymorphism in the estrogen receptor β gene (P = 0.03) were associated with recurrent miscarriage. 20716560 2010
CUI: C4552766
Disease: Miscarriage
Miscarriage 		0.310 Biomarker disease CTD_human Gene expression in cultured endometrium from women with different outcomes following IVF. 18539642 2008
CUI: C0023893
Disease: Liver Cirrhosis, Experimental
Liver Cirrhosis, Experimental 		0.300 Biomarker disease CTD_human Systems level analysis and identification of pathways and networks associated with liver fibrosis. 25380136 2014
CUI: C0014175
Disease: Endometriosis
Endometriosis 		0.300 Biomarker disease CTD_human Unique transcriptome, pathways, and networks in the human endometrial fibroblast response to progesterone in endometriosis. 20864642 2011
CUI: C0269102
Disease: Endometrioma
Endometrioma 		0.300 Biomarker disease CTD_human Unique transcriptome, pathways, and networks in the human endometrial fibroblast response to progesterone in endometriosis. 20864642 2011
CUI: C0000786
Disease: Spontaneous abortion
Spontaneous abortion 		0.300 Biomarker phenotype CTD_human Gene expression in cultured endometrium from women with different outcomes following IVF. 18539642 2008
CUI: C0000822
Disease: Abortion, Tubal
Abortion, Tubal 		0.300 Biomarker phenotype CTD_human Gene expression in cultured endometrium from women with different outcomes following IVF. 18539642 2008
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.300 Biomarker disease CTD_human Genes controlling affiliative behavior as candidate genes for autism. 18207134 2008
CUI: C3830362
Disease: Early Pregnancy Loss
Early Pregnancy Loss 		0.300 Biomarker phenotype CTD_human Gene expression in cultured endometrium from women with different outcomes following IVF. 18539642 2008
CUI: C0007097
Disease: Carcinoma
Carcinoma 		0.300 Biomarker group CTD_human Furthermore, carcinomas with elevated pY-STAT5a demonstrated lower apoptosis as measured by the TUNEL assay and the Bcl-2 to Bax ratio, and showed increased expression of the long and short isoforms of the prolactin receptor. 17173897 2007
CUI: C0024667
Disease: Animal Mammary Neoplasms
Animal Mammary Neoplasms 		0.300 Biomarker phenotype CTD_human Proliferation and apoptosis in PhIP-induced rat mammary gland carcinomas with elevated phosphotyrosine-STAT5a. 17173897 2007
CUI: C0205696
Disease: Anaplastic carcinoma
Anaplastic carcinoma 		0.300 Biomarker disease CTD_human Proliferation and apoptosis in PhIP-induced rat mammary gland carcinomas with elevated phosphotyrosine-STAT5a. 17173897 2007