Gene: LRMDA
Alternate names for this Gene: C10orf11|CDA017
Gene Summary: This gene encodes a leucine-rich repeat protein. The encoded protein is thought to play a role in melanocyte differentiation. Mutations in this gene have been associated with autosomal recessive oculocutaneous albinism 7 (OCA7). Alternatively spliced transcript variants have been identified.
Gene is located in Chromosome: 10
Location in Chromosome : 10q22.2-q22.3
Description of this Gene: leucine rich melanocyte differentiation associated
Type of Gene: protein-coding
rs72642263 in
LRMDA gene and
ACQUIRED IMMUNODEFICIENCY SYNDROME, PROGRESSION TO
PMID 31219150 2019 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.
rs72642263 in
LRMDA gene and
AIDS, PROGRESSION TO
PMID 31219150 2019 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.
rs878854351 in
LRMDA gene and
ALBINISM, OCULOCUTANEOUS, TYPE VII
PMID 26818737 2016 Homozygosity mapping in albinism patients using a novel panel of 13 STR markers inside the nonsyndromic OCA genes: introducing 5 novel mutations.
rs7923176 in
LRMDA gene and
Adolescent idiopathic scoliosis
PMID 30019117 2018 The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease.
rs67339103 in
LRMDA gene and
Albuminuria
PMID 30220432 2018 Genetic Association of Albuminuria with Cardiometabolic Disease and Blood Pressure.
rs11593840 in
LRMDA gene and
Alopecia
PMID 28196072 2017 Genetic prediction of male pattern baldness.
rs11593840 in
LRMDA gene and
Alopecia, Androgenetic, 1
PMID 27182965 2016 Detection and interpretation of shared genetic influences on 42 human traits.
PMID 29146897 2017 GWAS for male-pattern baldness identifies 71 susceptibility loci explaining 38% of the risk.
rs11593840 in
LRMDA gene and
Alopecia, Androgenetic, 2
PMID 29146897 2017 GWAS for male-pattern baldness identifies 71 susceptibility loci explaining 38% of the risk.
PMID 27182965 2016 Detection and interpretation of shared genetic influences on 42 human traits.
rs11593840 in
LRMDA gene and
Alopecia, Androgenetic, 3
PMID 27182965 2016 Detection and interpretation of shared genetic influences on 42 human traits.
PMID 29146897 2017 GWAS for male-pattern baldness identifies 71 susceptibility loci explaining 38% of the risk.
rs11593840 in
LRMDA gene and
Alopecia, Male Pattern
PMID 27182965 2016 Detection and interpretation of shared genetic influences on 42 human traits.
PMID 29146897 2017 GWAS for male-pattern baldness identifies 71 susceptibility loci explaining 38% of the risk.
rs11593840 in
LRMDA gene and
Androgenetic Alopecia
PMID 29146897 2017 GWAS for male-pattern baldness identifies 71 susceptibility loci explaining 38% of the risk.
PMID 27182965 2016 Detection and interpretation of shared genetic influences on 42 human traits.
rs10458660 in
LRMDA gene and
Atrial Fibrillation
PMID 30061737 2018 Biobank-driven genomic discovery yields new insight into atrial fibrillation biology.
PMID 29892015 2018 Multi-ethnic genome-wide association study for atrial fibrillation.
rs10824347 in
LRMDA gene and
Body mass index
PMID 30239722 2019 Meta-analysis of genome-wide association studies for body fat distribution in 694 649 individuals of European ancestry.
PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.
rs1992011 in
LRMDA gene and
Bone Density
PMID 30690781 2019 Joint Association Analysis Identified 18 New Loci for Bone Mineral Density.
rs2579762 in
LRMDA gene and
Chronic Obstructive Airway Disease
PMID 30804561 2019 Genetic landscape of chronic obstructive pulmonary disease identifies heterogeneous cell-type and phenotype associations.
rs7900112 in
LRMDA gene and
Diabetes Mellitus, Non-Insulin-Dependent
PMID 30718926 2019 Identification of 28 new susceptibility loci for type 2 diabetes in the Japanese population.
rs11001819 in
LRMDA gene and
Forced expiratory volume function
PMID 23284291 2012 Genome-wide joint meta-analysis of SNP and SNP-by-smoking interaction identifies novel loci for pulmonary function.
PMID 21946350 2011 Genome-wide association and large-scale follow up identifies 16 new loci influencing lung function.
PMID 26423011 2015 Novel insights into the genetics of smoking behaviour, lung function, and chronic obstructive pulmonary disease (UK BiLEVE): a genetic association study in UK Biobank.
PMID 28166213 2017 Genome-wide association analyses for lung function and chronic obstructive pulmonary disease identify new loci and potential druggable targets.
PMID 30804560 2019 New genetic signals for lung function highlight pathways and chronic obstructive pulmonary disease associations across multiple ancestries.
rs72642263 in
LRMDA gene and
HIV-1, RESISTANCE TO
PMID 31219150 2019 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.
rs72642263 in
LRMDA gene and
HUMAN IMMUNODEFICIENCY VIRUS TYPE 1, SUSCEPTIBILITY TO
PMID 31219150 2019 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.
rs11001398 in
LRMDA gene and
Lean body mass
PMID 30593698 2019 Genomics of body fat percentage may contribute to sex bias in anorexia nervosa.
rs67339103 in
LRMDA gene and
Microalbuminuria
PMID 31511532 2019 Genome-wide association meta-analyses and fine-mapping elucidate pathways influencing albuminuria.
rs11593840 in
LRMDA gene and
Other alopecia
PMID 27182965 2016 Detection and interpretation of shared genetic influences on 42 human traits.
PMID 29146897 2017 GWAS for male-pattern baldness identifies 71 susceptibility loci explaining 38% of the risk.
rs11001819 in
LRMDA gene and
Pulmonary function
PMID 21946350 2011 Genome-wide association and large-scale follow up identifies 16 new loci influencing lung function.
PMID 23932459 2014 Genome-wide association study of lung function phenotypes in a founder population.
rs11001819 in
LRMDA gene and
Pulmonary function (finding)
PMID 21946350 2011 Genome-wide association and large-scale follow up identifies 16 new loci influencing lung function.
PMID 23932459 2014 Genome-wide association study of lung function phenotypes in a founder population.
rs12764182 in
LRMDA gene and
QRS complex feature
PMID 27659466 2016 52 Genetic Loci Influencing Myocardial Mass.
rs10824380 in
LRMDA gene and
Red Blood Cell Count measurement
PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.
rs11001819 in
LRMDA gene and
Respiratory Function Tests
PMID 23284291 2012 Genome-wide joint meta-analysis of SNP and SNP-by-smoking interaction identifies novel loci for pulmonary function.
PMID 21946350 2011 Genome-wide association and large-scale follow up identifies 16 new loci influencing lung function.
rs7923176 in
LRMDA gene and
SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3
PMID 30019117 2018 The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease.
rs7900522 in
LRMDA gene and
Systemic Scleroderma
PMID 23740937 2013 A systemic sclerosis and systemic lupus erythematosus pan-meta-GWAS reveals new shared susceptibility loci.
rs72642263 in
LRMDA gene and
Viral Load result
PMID 31219150 2019 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.
rs2637254 in
LRMDA gene and
Vital capacity
PMID 30804560 2019 New genetic signals for lung function highlight pathways and chronic obstructive pulmonary disease associations across multiple ancestries.
PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.
PMID 28166213 2017 Genome-wide association analyses for lung function and chronic obstructive pulmonary disease identify new loci and potential druggable targets.
rs9415106 in
LRMDA gene and
Waist-Hip Ratio
PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.
rs2637254 in
LRMDA gene and
peak expiratory flow (procedure)
PMID 30804560 2019 New genetic signals for lung function highlight pathways and chronic obstructive pulmonary disease associations across multiple ancestries.