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: C2673642
Disease: Combined Oxidative Phosphorylation Deficiency 5
Combined Oxidative Phosphorylation Deficiency 5 		0.700 Biomarker disease GENOMICS_ENGLAND Whole-exome sequencing on deceased fetuses with ultrasound anomalies: expanding our knowledge of genetic disease during fetal development. 28425981 2017
CUI: C2673642
Disease: Combined Oxidative Phosphorylation Deficiency 5
Combined Oxidative Phosphorylation Deficiency 5 		0.700 Biomarker disease GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308 2016
CUI: C2673642
Disease: Combined Oxidative Phosphorylation Deficiency 5
Combined Oxidative Phosphorylation Deficiency 5 		0.700 GermlineCausalMutation disease ORPHANET Antenatal mitochondrial disease caused by mitochondrial ribosomal protein (MRPS22) mutation. 17873122 2007
CUI: C2673642
Disease: Combined Oxidative Phosphorylation Deficiency 5
Combined Oxidative Phosphorylation Deficiency 5 		0.700 Biomarker disease GENOMICS_ENGLAND Antenatal mitochondrial disease caused by mitochondrial ribosomal protein (MRPS22) mutation. 17873122 2007
CUI: C2673642
Disease: Combined Oxidative Phosphorylation Deficiency 5
Combined Oxidative Phosphorylation Deficiency 5 		0.700 GeneticVariation disease UNIPROT Antenatal mitochondrial disease caused by mitochondrial ribosomal protein (MRPS22) mutation. 17873122 2007
CUI: C2673642
Disease: Combined Oxidative Phosphorylation Deficiency 5
Combined Oxidative Phosphorylation Deficiency 5 		0.700 Biomarker disease CTD_human
CUI: C2673642
Disease: Combined Oxidative Phosphorylation Deficiency 5
Combined Oxidative Phosphorylation Deficiency 5 		0.700 CausalMutation disease CLINVAR
CUI: C0685837
Disease: Pure Gonadal Dysgenesis, 46, XX
Pure Gonadal Dysgenesis, 46, XX 		0.400 CausalMutation disease CLINVAR Mutations in the mitochondrial ribosomal protein MRPS22 lead to primary ovarian insufficiency. 29566152 2018
CUI: C0685837
Disease: Pure Gonadal Dysgenesis, 46, XX
Pure Gonadal Dysgenesis, 46, XX 		0.400 GermlineCausalMutation disease ORPHANET Mutations in the mitochondrial ribosomal protein MRPS22 lead to primary ovarian insufficiency. 29566152 2018
CUI: C4748263
Disease: OVARIAN DYSGENESIS 7
OVARIAN DYSGENESIS 7 		0.400 GeneticVariation disease UNIPROT Mutations in the mitochondrial ribosomal protein MRPS22 lead to primary ovarian insufficiency. 29566152 2018
CUI: C4748263
Disease: OVARIAN DYSGENESIS 7
OVARIAN DYSGENESIS 7 		0.400 CausalMutation disease CLINVAR
CUI: C0949595
Disease: Gonadal Dysgenesis, 46,XX
Gonadal Dysgenesis, 46,XX 		0.300 GermlineCausalMutation disease ORPHANET Mutations in the mitochondrial ribosomal protein MRPS22 lead to primary ovarian insufficiency. 29566152 2018
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.300 Biomarker disease CTD_human An integrative approach to identify YB-1-interacting proteins required for cisplatin resistance in MCF7 and MDA-MB-231 breast cancer cells. 21466612 2011
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.300 Biomarker disease CTD_human An integrative approach to identify YB-1-interacting proteins required for cisplatin resistance in MCF7 and MDA-MB-231 breast cancer cells. 21466612 2011
CUI: C1257931
Disease: Mammary Neoplasms, Human
Mammary Neoplasms, Human 		0.300 Biomarker disease CTD_human An integrative approach to identify YB-1-interacting proteins required for cisplatin resistance in MCF7 and MDA-MB-231 breast cancer cells. 21466612 2011
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		0.300 Biomarker group CTD_human An integrative approach to identify YB-1-interacting proteins required for cisplatin resistance in MCF7 and MDA-MB-231 breast cancer cells. 21466612 2011
CUI: C4704874
Disease: Mammary Carcinoma, Human
Mammary Carcinoma, Human 		0.300 Biomarker disease CTD_human An integrative approach to identify YB-1-interacting proteins required for cisplatin resistance in MCF7 and MDA-MB-231 breast cancer cells. 21466612 2011
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.120 Biomarker disease BEFREE Mutation in mitochondrial ribosomal protein MRPS22 leads to Cornelia de Lange-like phenotype, brain abnormalities and hypertrophic cardiomyopathy. 21189481 2011
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.120 GeneticVariation disease LHGDN Antenatal mitochondrial disease caused by mitochondrial ribosomal protein (MRPS22) mutation. 17873122 2007
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.120 Biomarker disease HPO
CUI: C0025322
Disease: Premature Menopause
Premature Menopause 		0.110 GeneticVariation disease BEFREE Mutations in the mitochondrial ribosomal protein MRPS22 lead to primary ovarian insufficiency. 29566152 2018
CUI: C0025322
Disease: Premature Menopause
Premature Menopause 		0.110 Biomarker disease HPO
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