MRPS22, mitochondrial ribosomal protein S22, 56945

N. diseases: 78; N. variants: 15
Source: ALL
Disease Type Disease Class Semantic Type N. genes d N. SNPs d Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
CUI: C3494422
Disease: Retrognathia
Retrognathia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases Anatomical Abnormality 191 11 0.100 None 0
CUI: C1305855
Disease: Body mass index
Body mass index 		phenotype Clinical Attribute 1014 2689 0.100 None 1.000 1 1 2012 2012
CUI: C0018798
Disease: Congenital Heart Defects
Congenital Heart Defects 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality 406 58 0.010 None 1.000 1 2015 2015
CUI: C0685837
Disease: Pure Gonadal Dysgenesis, 46, XX
Pure Gonadal Dysgenesis, 46, XX 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Congenital Abnormality 8 1 0.400 None 1.000 1 1 2018 2018
CUI: C0949595
Disease: Gonadal Dysgenesis, 46,XX
Gonadal Dysgenesis, 46,XX 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Congenital Abnormality 10 11 0.300 None 1.000 1 2018 2018
CUI: C2936420
Disease: 46, XX Gonadal Sex Reversal
46, XX Gonadal Sex Reversal 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Congenital Abnormality 1 1 0.100 None 1.000 1 1 2018 2018
CUI: C0003706
Disease: Arachnodactyly
Arachnodactyly 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 102 25 0.100 None 0
CUI: C0013336
Disease: Dwarfism
Dwarfism 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases Congenital Abnormality 1261 77 0.100 None 0
CUI: C0018051
Disease: Gonadal Dysgenesis
Gonadal Dysgenesis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Congenital Abnormality 53 6 0.100 None 0
CUI: C0025958
Disease: Microcephaly
Microcephaly 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Congenital Abnormality 1064 27 0.100 None 0
CUI: C0239234
Disease: Low set ears
Low set ears 		disease Congenital Abnormality 489 64 0.100 None 0
CUI: C0266371
Disease: Streak ovary
Streak ovary 		disease Congenital Abnormality 21 0.100 None 0
CUI: C0266399
Disease: Infantile uterus
Infantile uterus 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Congenital Abnormality 43 0.100 None 0
CUI: C0344482
Disease: Hypoplasia of corpus callosum
Hypoplasia of corpus callosum 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 385 49 0.100 None 0
CUI: C0431478
Disease: Posteriorly rotated ear
Posteriorly rotated ear 		disease Congenital Abnormality 176 23 0.100 None 0
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		group Nervous System Diseases Disease or Syndrome 362 247 0.100 None 1.000 5 1 2007 2017
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases 		group Nutritional and Metabolic Diseases Disease or Syndrome 284 84 0.030 None 1.000 3 2007 2018
CUI: C2673642
Disease: Combined Oxidative Phosphorylation Deficiency 5
Combined Oxidative Phosphorylation Deficiency 5 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 1 2 0.700 None 1.000 3 2 2007 2017
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		disease Cardiovascular Diseases Disease or Syndrome 560 635 0.120 None 1.000 2 2007 2011
CUI: C0029489
Disease: Other alopecia
Other alopecia 		phenotype Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Disease or Syndrome 39 104 0.100 None 1.000 2 1 2016 2017
CUI: C0085215
Disease: Ovarian Failure, Premature
Ovarian Failure, Premature 		disease Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases Disease or Syndrome 333 115 0.020 None 0.500 2 1 2018 2019
CUI: C0162311
Disease: Androgenetic Alopecia
Androgenetic Alopecia 		disease Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Disease or Syndrome 112 107 0.100 None 1.000 2 1 2016 2017
CUI: C2676272
Disease: Alopecia, Androgenetic, 3
Alopecia, Androgenetic, 3 		disease Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Disease or Syndrome 39 104 0.100 None 1.000 2 1 2016 2017
CUI: C2678038
Disease: Alopecia, Androgenetic, 2
Alopecia, Androgenetic, 2 		disease Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Disease or Syndrome 39 104 0.100 None 1.000 2 1 2016 2017
CUI: C4049090
Disease: Alopecia, Androgenetic, 1
Alopecia, Androgenetic, 1 		disease Disease or Syndrome 39 104 0.100 None 1.000 2 1 2016 2017