ACTN3, actinin alpha 3 (gene/pseudogene), 89

N. diseases: 41; N. variants: 4
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: C3714535
Disease: Malocclusion, Angle class II
Malocclusion, Angle class II 		disease Stomatognathic Diseases Anatomical Abnormality 5 1 0.010 None 1.000 1 2014 2014
CUI: C0231230
Disease: Fatigability
Fatigability 		phenotype Sign or Symptom 29 4 0.010 None < 0.001 1 2018 2018
CUI: C0234233
Disease: Sore to touch
Sore to touch 		phenotype Pathological Conditions, Signs and Symptoms; Mental Disorders Sign or Symptom 56 8 0.010 None 1.000 1 1 2018 2018
CUI: C0264716
Disease: Chronic heart failure
Chronic heart failure 		disease Cardiovascular Diseases Disease or Syndrome 223 11 0.010 None 1.000 1 1 2014 2014
CUI: C0342751
Disease: Generalized glycogen storage disease of infants
Generalized glycogen storage disease of infants 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 51 16 0.010 None 1.000 1 2014 2014
CUI: C0410702
Disease: Adolescent idiopathic scoliosis
Adolescent idiopathic scoliosis 		disease Musculoskeletal Diseases Anatomical Abnormality 656 1178 0.010 None < 0.001 1 1 2016 2016
CUI: C0524620
Disease: Metabolic Syndrome X
Metabolic Syndrome X 		disease Nutritional and Metabolic Diseases Disease or Syndrome 1125 591 0.010 None 1.000 1 1 2016 2016
CUI: C0595995
Disease: Idiopathic scoliosis
Idiopathic scoliosis 		disease Musculoskeletal Diseases Acquired Abnormality 46 17 0.010 None 1.000 1 2016 2016
CUI: C0751356
Disease: Idiopathic Inflammatory Myopathies
Idiopathic Inflammatory Myopathies 		disease Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 106 4 0.010 None 1.000 1 2012 2012
CUI: C0872084
Disease: Sarcopenia
Sarcopenia 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 164 10 0.010 None 1.000 1 1 2017 2017
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases Neoplastic Process 2542 757 0.010 None 1.000 1 2014 2014
CUI: C1140680
Disease: Malignant neoplasm of ovary
Malignant neoplasm of ovary 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases Neoplastic Process 2563 315 0.010 None 1.000 1 2014 2014
CUI: C1852502
Disease: CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT
CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT 		disease Musculoskeletal Diseases; Stomatognathic Diseases Disease or Syndrome 45 9 0.010 None 1.000 1 1997 1997
CUI: C1861922
Disease: CAMPOMELIC DYSPLASIA
CAMPOMELIC DYSPLASIA 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 68 20 0.010 None 1.000 1 1997 1997
CUI: C2827469
Disease: Coronary Microvascular Disease
Coronary Microvascular Disease 		disease Disease or Syndrome 45 3 0.010 None 1.000 1 1997 1997
CUI: C4721610
Disease: Carcinoma, Ovarian Epithelial
Carcinoma, Ovarian Epithelial 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases Neoplastic Process 2841 327 0.010 None 1.000 1 2014 2014
CUI: C3489532
Disease: Cone-Rod Dystrophy 2
Cone-Rod Dystrophy 2 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 254 51 0.010 None 1.000 1 2012 2012
CUI: C0221170
Disease: Muscular stiffness
Muscular stiffness 		phenotype Nervous System Diseases Sign or Symptom 92 6 0.010 None 1.000 1 1 2018 2018
CUI: C0221056
Disease: Adult type dermatomyositis
Adult type dermatomyositis 		disease Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 218 31 0.010 None 1.000 1 2012 2012
CUI: C0085655
Disease: Polymyositis
Polymyositis 		disease Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 183 22 0.010 None 1.000 1 2012 2012
CUI: C0015672
Disease: Fatigue
Fatigue 		phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 760 67 0.010 None 1.000 1 2015 2015
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 194 269 0.010 None 1.000 1 2014 2014
CUI: C0011633
Disease: Dermatomyositis
Dermatomyositis 		disease Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 235 34 0.010 None 1.000 1 2012 2012
CUI: C0018802
Disease: Congestive heart failure
Congestive heart failure 		disease Cardiovascular Diseases Disease or Syndrome 1760 165 0.010 None 1.000 1 1 2014 2014
CUI: C0024636
Disease: Malocclusion
Malocclusion 		disease Stomatognathic Diseases Anatomical Abnormality 128 10 0.010 None 1.000 1 1 2014 2014