MRPS22, mitochondrial ribosomal protein S22, 56945

N. diseases: 78; N. variants: 15
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0154208
Disease: Disorder of endocrine ovary
Disorder of endocrine ovary 		0.010 Biomarker group BEFREE These findings collectively identify that MRPS22, a component of the small mitochondrial ribosome subunit, is critical for ovarian development and may therefore provide insight into the pathophysiology and treatment of ovarian dysfunction. 29566152 2018
CUI: C0001125
Disease: Acidosis, Lactic
Acidosis, Lactic 		0.010 GeneticVariation phenotype BEFREE Here, we present a neonate with fatal lactic acidosis and combined OXPHOS deficiency caused by a homozygous mutation in MRPS22, a gene encoding a mitochondrial ribosomal small subunit protein. 25663021 2015
CUI: C0018798
Disease: Congenital Heart Defects
Congenital Heart Defects 		0.010 GeneticVariation group BEFREE MRPS22 mutation causes fatal neonatal lactic acidosis with brain and heart abnormalities. 25663021 2015
CUI: C4551472
Disease: Hypertrophic obstructive cardiomyopathy
Hypertrophic obstructive cardiomyopathy 		0.010 Biomarker disease BEFREE Mutation in mitochondrial ribosomal protein MRPS22 leads to Cornelia de Lange-like phenotype, brain abnormalities and hypertrophic cardiomyopathy. 21189481 2011
CUI: C0085215
Disease: Ovarian Failure, Premature
Ovarian Failure, Premature 		0.020 Biomarker disease BEFREE This analysis identified likely damaging, potentially contributing variants and molecular diagnoses in 16 families (44%), including 11 families with likely damaging variants in known genes and five families with predicted deleterious variants in disease genes (IGSF10, MND1, MRPS22, and SOHLH1) not previously associated with POI. 31042289 2019
CUI: C0085215
Disease: Ovarian Failure, Premature
Ovarian Failure, Premature 		0.020 GeneticVariation disease BEFREE In contrast to prior reports of mutations in MRPS22 associated with severe mitochondrial disease, the POI phenotype is far less severe. 29566152 2018
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases 		0.030 GeneticVariation group BEFREE In contrast to prior reports of mutations in MRPS22 associated with severe mitochondrial disease, the POI phenotype is far less severe. 29566152 2018
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases 		0.030 GeneticVariation group BEFREE A patient with mitochondrial disorder due to a novel mutation in MRPS22. 28752220 2017
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases 		0.030 GeneticVariation group BEFREE Antenatal mitochondrial disease caused by mitochondrial ribosomal protein (MRPS22) mutation. 17873122 2007
CUI: C0005612
Disease: Birth Weight
Birth Weight 		0.100 GeneticVariation phenotype GWASCAT Maternal and fetal genetic effects on birth weight and their relevance to cardio-metabolic risk factors. 31043758 2019
CUI: C2936420
Disease: 46, XX Gonadal Sex Reversal
46, XX Gonadal Sex Reversal 		0.100 CausalMutation disease CLINVAR Mutations in the mitochondrial ribosomal protein MRPS22 lead to primary ovarian insufficiency. 29566152 2018
CUI: C0002170
Disease: Alopecia
Alopecia 		0.100 GeneticVariation disease GWASCAT Genetic prediction of male pattern baldness. 28196072 2017
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.100 CausalMutation group CLINVAR A patient with mitochondrial disorder due to a novel mutation in MRPS22. 28752220 2017
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 CausalMutation phenotype CLINVAR A patient with mitochondrial disorder due to a novel mutation in MRPS22. 28752220 2017
CUI: C0029489
Disease: Other alopecia
Other alopecia 		0.100 GeneticVariation phenotype GWASCAT GWAS for male-pattern baldness identifies 71 susceptibility loci explaining 38% of the risk. 29146897 2017
CUI: C0162311
Disease: Androgenetic Alopecia
Androgenetic Alopecia 		0.100 GeneticVariation disease GWASCAT GWAS for male-pattern baldness identifies 71 susceptibility loci explaining 38% of the risk. 29146897 2017
CUI: C1335167
Disease: Ovarian Mucinous Adenocarcinoma
Ovarian Mucinous Adenocarcinoma 		0.100 GeneticVariation disease GWASCAT Identification of 12 new susceptibility loci for different histotypes of epithelial ovarian cancer. 28346442 2017
CUI: C2676272
Disease: Alopecia, Androgenetic, 3
Alopecia, Androgenetic, 3 		0.100 GeneticVariation disease GWASCAT GWAS for male-pattern baldness identifies 71 susceptibility loci explaining 38% of the risk. 29146897 2017
CUI: C2678038
Disease: Alopecia, Androgenetic, 2
Alopecia, Androgenetic, 2 		0.100 GeneticVariation disease GWASCAT GWAS for male-pattern baldness identifies 71 susceptibility loci explaining 38% of the risk. 29146897 2017
CUI: C4049090
Disease: Alopecia, Androgenetic, 1
Alopecia, Androgenetic, 1 		0.100 GeneticVariation disease GWASCAT GWAS for male-pattern baldness identifies 71 susceptibility loci explaining 38% of the risk. 29146897 2017
CUI: C4083212
Disease: Alopecia, Male Pattern
Alopecia, Male Pattern 		0.100 GeneticVariation disease GWASCAT GWAS for male-pattern baldness identifies 71 susceptibility loci explaining 38% of the risk. 29146897 2017
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.100 CausalMutation group CLINVAR Whole exome sequencing in patients with white matter abnormalities. 27159321 2016
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 CausalMutation phenotype CLINVAR Whole exome sequencing in patients with white matter abnormalities. 27159321 2016
CUI: C0029489
Disease: Other alopecia
Other alopecia 		0.100 GeneticVariation phenotype GWASCAT Detection and interpretation of shared genetic influences on 42 human traits. 27182965 2016
CUI: C0162311
Disease: Androgenetic Alopecia
Androgenetic Alopecia 		0.100 GeneticVariation disease GWASCAT Detection and interpretation of shared genetic influences on 42 human traits. 27182965 2016