PRLR, prolactin receptor, 5618

N. diseases: 110; N. variants: 15
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs398122522
rs398122522
Entrez Id: 5618
Gene Symbol: PRLR
PRLR
CUI: C0020514
Disease:
Hyperprolactinemia
0.800 GeneticVariation UNIPROT Mutant prolactin receptor and familial hyperprolactinemia. 24195502 2013
dbSNP: rs72478580
rs72478580
Entrez Id: 5618
Gene Symbol: PRLR
PRLR
CUI: C3809918
Disease:
MULTIPLE FIBROADENOMAS OF THE BREAST
0.800 GeneticVariation UNIPROT Identification of a gain-of-function mutation of the prolactin receptor in women with benign breast tumors. 18779591 2008
dbSNP: rs398122522
rs398122522
Entrez Id: 5618
Gene Symbol: PRLR
PRLR
CUI: C0020514
Disease:
Hyperprolactinemia
C 0.800 CausalMutation CLINVAR
dbSNP: rs72478580
rs72478580
Entrez Id: 5618
Gene Symbol: PRLR
PRLR
CUI: C3809918
Disease:
MULTIPLE FIBROADENOMAS OF THE BREAST
G 0.800 CausalMutation CLINVAR
dbSNP: rs376188691
rs376188691
Entrez Id: 5618
Gene Symbol: PRLR
PRLR
CUI: C0020514
Disease:
Hyperprolactinemia
A 0.700 CausalMutation CLINVAR
dbSNP: rs754974807
rs754974807
Entrez Id: 5618
Gene Symbol: PRLR
PRLR
CUI: C0020514
Disease:
Hyperprolactinemia
A 0.700 CausalMutation CLINVAR
dbSNP: rs1456671183
rs1456671183
Entrez Id: 5618
Gene Symbol: PRLR
PRLR
CUI: C0033375
Disease:
Prolactinoma
0.010 GeneticVariation BEFREE The rare variants, Glu376Gln and Asn492Ile, which were in complete linkage disequilibrium, and are located in the PRLR intracellular domain, occurred with significantly higher frequencies (P < 0.0001) in prolactinoma patients than in 60 706 individuals of the Exome Aggregation Consortium cohort and 7045 individuals of the Oxford Biobank. 30445560 2019
dbSNP: rs147265072
rs147265072
Entrez Id: 5618
Gene Symbol: PRLR
PRLR
CUI: C0033375
Disease:
Prolactinoma
0.010 GeneticVariation BEFREE The rare variants, Glu376Gln and Asn492Ile, which were in complete linkage disequilibrium, and are located in the PRLR intracellular domain, occurred with significantly higher frequencies (P < 0.0001) in prolactinoma patients than in 60 706 individuals of the Exome Aggregation Consortium cohort and 7045 individuals of the Oxford Biobank. 30445560 2019
dbSNP: rs72478580
rs72478580
Entrez Id: 5618
Gene Symbol: PRLR
PRLR
CUI: C0596263
Disease:
Carcinogenesis
0.010 GeneticVariation BEFREE PRLR(I146L) is the first identified gain-of-function variant of the prolactin receptor (PRLR) that was proposed to be associated with benign breast tumorigenesis. 25524456 2015
dbSNP: rs10068521
rs10068521
Entrez Id: 5618
Gene Symbol: PRLR
PRLR
CUI: C0085207
Disease:
Gestational Diabetes
0.010 GeneticVariation BEFREE The minor alleles of PRLR SNPs rs10068521 and rs9292578 were more frequently observed in GDM cases than controls and were associated with a 2.36-fold increased risk for GDM in those carrying the minor allele. 23651351 2013
dbSNP: rs192767214
rs192767214
Entrez Id: 5618
Gene Symbol: PRLR
PRLR
CUI: C0027662
Disease:
Multiple Endocrine Neoplasia
0.010 GeneticVariation BEFREE These symptoms were not associated with pituitary tumors or multiple endocrine neoplasia but were due to a heterozygous mutation in the prolactin receptor gene, PRLR, resulting in an amino acid change from histidine to arginine at codon 188 (His188Arg). 24195502 2013
dbSNP: rs398122522
rs398122522
Entrez Id: 5618
Gene Symbol: PRLR
PRLR
CUI: C0027662
Disease:
Multiple Endocrine Neoplasia
0.010 GeneticVariation BEFREE These symptoms were not associated with pituitary tumors or multiple endocrine neoplasia but were due to a heterozygous mutation in the prolactin receptor gene, PRLR, resulting in an amino acid change from histidine to arginine at codon 188 (His188Arg). 24195502 2013
dbSNP: rs9292578
rs9292578
Entrez Id: 5618
Gene Symbol: PRLR
PRLR
CUI: C0085207
Disease:
Gestational Diabetes
0.010 GeneticVariation BEFREE The minor alleles of PRLR SNPs rs10068521 and rs9292578 were more frequently observed in GDM cases than controls and were associated with a 2.36-fold increased risk for GDM in those carrying the minor allele. 23651351 2013
dbSNP: rs10941235
rs10941235
Entrez Id: 5618
Gene Symbol: PRLR
PRLR
CUI: C0006142
Disease:
Malignant neoplasm of breast
0.010 GeneticVariation BEFREE These findings suggest that the polymorphism rs10941235 in the PRLR gene is associated with breast cancer and cancer antigen 15-3 levels in Taiwanese women. 21125332 2011
dbSNP: rs10941235
rs10941235
Entrez Id: 5618
Gene Symbol: PRLR
PRLR
CUI: C0678222
Disease:
Breast Carcinoma
0.010 GeneticVariation BEFREE These findings suggest that the polymorphism rs10941235 in the PRLR gene is associated with breast cancer and cancer antigen 15-3 levels in Taiwanese women. 21125332 2011
dbSNP: rs13436213
rs13436213
Entrez Id: 5618
Gene Symbol: PRLR
PRLR
CUI: C0678222
Disease:
Breast Carcinoma
0.010 GeneticVariation BEFREE Three SNPs were associated with breast cancer risk: in premenopausal women, PRLR rs249537 (T vs. C per-allele OR 1.39, 95% CI 1.07 - 1.80, P = 0.01); and in postmenopausal women, PRLR rs7718468 (C vs. T per-allele OR 1.16, 95% CI 1.03 - 1.30, P = 0.01) and PRLR rs13436213 (A vs. G per-allele OR 1.13 95% CI 1.01 - 1.26, P = 0.04). 21470416 2011
dbSNP: rs13436213
rs13436213
Entrez Id: 5618
Gene Symbol: PRLR
PRLR
CUI: C0006142
Disease:
Malignant neoplasm of breast
0.010 GeneticVariation BEFREE Three SNPs were associated with breast cancer risk: in premenopausal women, PRLR rs249537 (T vs. C per-allele OR 1.39, 95% CI 1.07 - 1.80, P = 0.01); and in postmenopausal women, PRLR rs7718468 (C vs. T per-allele OR 1.16, 95% CI 1.03 - 1.30, P = 0.01) and PRLR rs13436213 (A vs. G per-allele OR 1.13 95% CI 1.01 - 1.26, P = 0.04). 21470416 2011
dbSNP: rs249537
rs249537
Entrez Id: 5618
Gene Symbol: PRLR
PRLR
CUI: C0678222
Disease:
Breast Carcinoma
0.010 GeneticVariation BEFREE Three SNPs were associated with breast cancer risk: in premenopausal women, PRLR rs249537 (T vs. C per-allele OR 1.39, 95% CI 1.07 - 1.80, P = 0.01); and in postmenopausal women, PRLR rs7718468 (C vs. T per-allele OR 1.16, 95% CI 1.03 - 1.30, P = 0.01) and PRLR rs13436213 (A vs. G per-allele OR 1.13 95% CI 1.01 - 1.26, P = 0.04). 21470416 2011
dbSNP: rs249537
rs249537
Entrez Id: 5618
Gene Symbol: PRLR
PRLR
CUI: C0006142
Disease:
Malignant neoplasm of breast
0.010 GeneticVariation BEFREE Three SNPs were associated with breast cancer risk: in premenopausal women, PRLR rs249537 (T vs. C per-allele OR 1.39, 95% CI 1.07 - 1.80, P = 0.01); and in postmenopausal women, PRLR rs7718468 (C vs. T per-allele OR 1.16, 95% CI 1.03 - 1.30, P = 0.01) and PRLR rs13436213 (A vs. G per-allele OR 1.13 95% CI 1.01 - 1.26, P = 0.04). 21470416 2011
dbSNP: rs37364
rs37364
Entrez Id: 5618
Gene Symbol: PRLR
PRLR
CUI: C0686347
Disease:
Tardive Dyskinesia
0.010 GeneticVariation BEFREE Regarding tardive dyskinesia, the major allele of PRL rs37364 was nominally associated with risk for tardive dyskinesia in the European ancestry sub-sample (permuted p=0.183). 21305610 2011
dbSNP: rs37364
rs37364
Entrez Id: 5618
Gene Symbol: PRLR
PRLR
CUI: C3714760
Disease:
Drug-induced tardive dyskinesia
0.010 GeneticVariation BEFREE Regarding tardive dyskinesia, the major allele of PRL rs37364 was nominally associated with risk for tardive dyskinesia in the European ancestry sub-sample (permuted p=0.183). 21305610 2011
dbSNP: rs7718468
rs7718468
Entrez Id: 5618
Gene Symbol: PRLR
PRLR
CUI: C0006142
Disease:
Malignant neoplasm of breast
0.010 GeneticVariation BEFREE Three SNPs were associated with breast cancer risk: in premenopausal women, PRLR rs249537 (T vs. C per-allele OR 1.39, 95% CI 1.07 - 1.80, P = 0.01); and in postmenopausal women, PRLR rs7718468 (C vs. T per-allele OR 1.16, 95% CI 1.03 - 1.30, P = 0.01) and PRLR rs13436213 (A vs. G per-allele OR 1.13 95% CI 1.01 - 1.26, P = 0.04). 21470416 2011
dbSNP: rs7718468
rs7718468
Entrez Id: 5618
Gene Symbol: PRLR
PRLR
CUI: C0678222
Disease:
Breast Carcinoma
0.010 GeneticVariation BEFREE Three SNPs were associated with breast cancer risk: in premenopausal women, PRLR rs249537 (T vs. C per-allele OR 1.39, 95% CI 1.07 - 1.80, P = 0.01); and in postmenopausal women, PRLR rs7718468 (C vs. T per-allele OR 1.16, 95% CI 1.03 - 1.30, P = 0.01) and PRLR rs13436213 (A vs. G per-allele OR 1.13 95% CI 1.01 - 1.26, P = 0.04). 21470416 2011
dbSNP: rs37389
rs37389
Entrez Id: 5618
Gene Symbol: PRLR
PRLR
CUI: C4552766
Disease:
Miscarriage
0.010 GeneticVariation 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