LRP4, LDL receptor related protein 4, 4038

N. diseases: 151; N. variants: 23
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs387906883
rs387906883
Entrez Id: 4038
Gene Symbol: LRP4
LRP4
CUI: C3280402
Disease:
SCLEROSTEOSIS 2 		0.800 GeneticVariation UNIPROT LRP4 third β-propeller domain mutations cause novel congenital myasthenia by compromising agrin-mediated MuSK signaling in a position-specific manner. 24234652 2014
dbSNP: rs387906884
rs387906884
Entrez Id: 4038
Gene Symbol: LRP4
LRP4
CUI: C3280402
Disease:
SCLEROSTEOSIS 2 		0.800 GeneticVariation UNIPROT LRP4 third β-propeller domain mutations cause novel congenital myasthenia by compromising agrin-mediated MuSK signaling in a position-specific manner. 24234652 2014
dbSNP: rs387906883
rs387906883
Entrez Id: 4038
Gene Symbol: LRP4
LRP4
CUI: C3280402
Disease:
SCLEROSTEOSIS 2 		0.800 GeneticVariation UNIPROT Bone overgrowth-associated mutations in the LRP4 gene impair sclerostin facilitator function. 21471202 2011
dbSNP: rs387906884
rs387906884
Entrez Id: 4038
Gene Symbol: LRP4
LRP4
CUI: C3280402
Disease:
SCLEROSTEOSIS 2 		0.800 GeneticVariation UNIPROT Bone overgrowth-associated mutations in the LRP4 gene impair sclerostin facilitator function. 21471202 2011
dbSNP: rs267607220
rs267607220
Entrez Id: 4038
Gene Symbol: LRP4
LRP4
CUI: C1859309
Disease:
Syndactyly Cenani Lenz type 		0.800 GeneticVariation UNIPROT LRP4 mutations alter Wnt/beta-catenin signaling and cause limb and kidney malformations in Cenani-Lenz syndrome. 20381006 2010
dbSNP: rs267607221
rs267607221
Entrez Id: 4038
Gene Symbol: LRP4
LRP4
CUI: C1859309
Disease:
Syndactyly Cenani Lenz type 		0.800 GeneticVariation UNIPROT LRP4 mutations alter Wnt/beta-catenin signaling and cause limb and kidney malformations in Cenani-Lenz syndrome. 20381006 2010
dbSNP: rs267607222
rs267607222
Entrez Id: 4038
Gene Symbol: LRP4
LRP4
CUI: C1859309
Disease:
Syndactyly Cenani Lenz type 		0.800 GeneticVariation UNIPROT LRP4 mutations alter Wnt/beta-catenin signaling and cause limb and kidney malformations in Cenani-Lenz syndrome. 20381006 2010
dbSNP: rs267607223
rs267607223
Entrez Id: 4038
Gene Symbol: LRP4
LRP4
CUI: C1859309
Disease:
Syndactyly Cenani Lenz type 		0.800 GeneticVariation UNIPROT LRP4 mutations alter Wnt/beta-catenin signaling and cause limb and kidney malformations in Cenani-Lenz syndrome. 20381006 2010
dbSNP: rs267607224
rs267607224
Entrez Id: 4038
Gene Symbol: LRP4
LRP4
CUI: C1859309
Disease:
Syndactyly Cenani Lenz type 		0.800 GeneticVariation UNIPROT LRP4 mutations alter Wnt/beta-catenin signaling and cause limb and kidney malformations in Cenani-Lenz syndrome. 20381006 2010
dbSNP: rs267607220
rs267607220
Entrez Id: 4038
Gene Symbol: LRP4
LRP4
CUI: C1859309
Disease:
Syndactyly Cenani Lenz type 		T 0.800 CausalMutation CLINVAR
dbSNP: rs267607221
rs267607221
Entrez Id: 4038
Gene Symbol: LRP4
LRP4
CUI: C1859309
Disease:
Syndactyly Cenani Lenz type 		T 0.800 CausalMutation CLINVAR
dbSNP: rs267607222
rs267607222
Entrez Id: 4038
Gene Symbol: LRP4
LRP4
CUI: C1859309
Disease:
Syndactyly Cenani Lenz type 		T 0.800 CausalMutation CLINVAR
dbSNP: rs267607223
rs267607223
Entrez Id: 4038
Gene Symbol: LRP4
LRP4
CUI: C1859309
Disease:
Syndactyly Cenani Lenz type 		G 0.800 CausalMutation CLINVAR
dbSNP: rs267607224
rs267607224
Entrez Id: 4038
Gene Symbol: LRP4
LRP4
CUI: C1859309
Disease:
Syndactyly Cenani Lenz type 		T 0.800 CausalMutation CLINVAR
dbSNP: rs387906883
rs387906883
Entrez Id: 4038
Gene Symbol: LRP4
LRP4
CUI: C3280402
Disease:
SCLEROSTEOSIS 2 		G 0.800 CausalMutation CLINVAR
dbSNP: rs387906884
rs387906884
Entrez Id: 4038
Gene Symbol: LRP4
LRP4
CUI: C3280402
Disease:
SCLEROSTEOSIS 2 		A 0.800 CausalMutation CLINVAR
dbSNP: rs191945075
rs191945075
Entrez Id: 4038
Gene Symbol: LRP4
LRP4
CUI: C1861172
Disease:
Venous Thromboembolism 		A 0.700 GeneticVariation GWASCAT Genomic and transcriptomic association studies identify 16 novel susceptibility loci for venous thromboembolism. 31420334 2019
dbSNP: rs2306027
rs2306027
Entrez Id: 4038
Gene Symbol: LRP4
LRP4
CUI: C0202239
Disease:
Uric acid measurement (procedure) 		T 0.700 GeneticVariation GWASCAT Target genes, variants, tissues and transcriptional pathways influencing human serum urate levels. 31578528 2019
dbSNP: rs78245588
rs78245588
Entrez Id: 4038
Gene Symbol: LRP4
LRP4
CUI: C1836231
Disease:
HIV-1, RESISTANCE TO 		T 0.700 GeneticVariation GWASCAT Association Between Single-Nucleotide Polymorphisms in HLA Alleles and Human Immunodeficiency Virus Type 1 Viral Load in Demographically Diverse, Antiretroviral Therapy-Naive Participants From the Strategic Timing of AntiRetroviral Treatment Trial. 31219150 2019
dbSNP: rs78245588
rs78245588
Entrez Id: 4038
Gene Symbol: LRP4
LRP4
CUI: C1836233
Disease:
AIDS, PROGRESSION TO 		T 0.700 GeneticVariation GWASCAT Association Between Single-Nucleotide Polymorphisms in HLA Alleles and Human Immunodeficiency Virus Type 1 Viral Load in Demographically Diverse, Antiretroviral Therapy-Naive Participants From the Strategic Timing of AntiRetroviral Treatment Trial. 31219150 2019
dbSNP: rs78245588
rs78245588
Entrez Id: 4038
Gene Symbol: LRP4
LRP4
CUI: C0376705
Disease:
Viral Load result 		T 0.700 GeneticVariation GWASCAT Association Between Single-Nucleotide Polymorphisms in HLA Alleles and Human Immunodeficiency Virus Type 1 Viral Load in Demographically Diverse, Antiretroviral Therapy-Naive Participants From the Strategic Timing of AntiRetroviral Treatment Trial. 31219150 2019
dbSNP: rs78245588
rs78245588
Entrez Id: 4038
Gene Symbol: LRP4
LRP4
CUI: C1836232
Disease:
ACQUIRED IMMUNODEFICIENCY SYNDROME, PROGRESSION TO 		T 0.700 GeneticVariation GWASCAT Association Between Single-Nucleotide Polymorphisms in HLA Alleles and Human Immunodeficiency Virus Type 1 Viral Load in Demographically Diverse, Antiretroviral Therapy-Naive Participants From the Strategic Timing of AntiRetroviral Treatment Trial. 31219150 2019
dbSNP: rs78245588
rs78245588
Entrez Id: 4038
Gene Symbol: LRP4
LRP4
CUI: C1836230
Disease:
HUMAN IMMUNODEFICIENCY VIRUS TYPE 1, SUSCEPTIBILITY TO 		T 0.700 GeneticVariation GWASCAT Association Between Single-Nucleotide Polymorphisms in HLA Alleles and Human Immunodeficiency Virus Type 1 Viral Load in Demographically Diverse, Antiretroviral Therapy-Naive Participants From the Strategic Timing of AntiRetroviral Treatment Trial. 31219150 2019
dbSNP: rs1585453
rs1585453
Entrez Id: 4038;100507401
Gene Symbol: LRP4;LRP4-AS1
LRP4;LRP4-AS1
CUI: C0871470
Disease:
Systolic Pressure 		A 0.700 GeneticVariation GWASCAT Genetic analysis of over 1 million people identifies 535 new loci associated with blood pressure traits. 30224653 2018
dbSNP: rs2306032
rs2306032
Entrez Id: 4038
Gene Symbol: LRP4
LRP4
CUI: C0005938
Disease:
Bone Density 		C 0.700 GeneticVariation GWASCAT Life-Course Genome-wide Association Study Meta-analysis of Total Body BMD and Assessment of Age-Specific Effects. 29304378 2018