DMD, dystrophin, 1756

N. diseases: 484; N. variants: 345
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: C0525045
Disease: Mood Disorders
Mood Disorders 		group Mental Disorders Mental or Behavioral Dysfunction 580 308 0.010 None 1.000 1 2004 2004
CUI: C0543800
Disease: Idiopathic hypercalciuria
Idiopathic hypercalciuria 		disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 20 1 0.010 None 1.000 1 2000 2000
CUI: C0741923
Disease: cardiac event
cardiac event 		phenotype Disease or Syndrome 82 18 0.010 None < 0.001 1 2018 2018
CUI: C0741933
Disease: cardiac symptom
cardiac symptom 		phenotype Sign or Symptom 9 2 0.010 None 1.000 1 2016 2016
CUI: C0027543
Disease: Avascular necrosis of bone
Avascular necrosis of bone 		phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases Disease or Syndrome 73 5 0.010 None 1.000 1 2018 2018
CUI: C0878773
Disease: Overactive Bladder
Overactive Bladder 		disease Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 65 3 0.010 None 1.000 1 2019 2019
CUI: C0948775
Disease: High weight
High weight 		phenotype Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases Sign or Symptom 12 0.010 None 1.000 1 2011 2011
CUI: C0948825
Disease: Systremma
Systremma 		phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases Sign or Symptom 2 0.010 None 1.000 1 2017 2017
CUI: C1136249
Disease: Mental Retardation, X-Linked
Mental Retardation, X-Linked 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 141 13 0.010 None 1.000 1 2003 2003
CUI: C0027059
Disease: Myocarditis
Myocarditis 		disease Cardiovascular Diseases Disease or Syndrome 285 2 0.010 None 1.000 1 2016 2016
CUI: C1270972
Disease: Mild cognitive disorder
Mild cognitive disorder 		disease Mental Disorders Mental or Behavioral Dysfunction 430 96 0.010 None 1.000 1 2012 2012
CUI: C1275122
Disease: Familial multiple trichoepitheliomata
Familial multiple trichoepitheliomata 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 317 32 0.010 None 1.000 1 2008 2008
CUI: C1277187
Disease: Left ventricular systolic dysfunction
Left ventricular systolic dysfunction 		disease Cardiovascular Diseases Disease or Syndrome 41 11 0.010 None 1.000 1 2018 2018
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung 		disease Neoplasms; Respiratory Tract Diseases Neoplastic Process 3894 981 0.010 None 1.000 1 1 2011 2011
CUI: C1328551
Disease: Transfusion associated graft versus host disease
Transfusion associated graft versus host disease 		disease Disease or Syndrome 3 0.010 None 1.000 1 2003 2003
CUI: C0026837
Disease: Muscle Rigidity
Muscle Rigidity 		phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases Sign or Symptom 320 25 0.010 None < 0.001 1 2014 2014
CUI: C0877438
Disease: Non-ischemic cardiomyopathy
Non-ischemic cardiomyopathy 		disease Cardiovascular Diseases Disease or Syndrome 15 0.010 None 1.000 1 2008 2008
CUI: C0877009
Disease: Muscle fibrosis
Muscle fibrosis 		phenotype Sign or Symptom 34 0.010 None 1.000 1 2014 2014
CUI: C0742034
Disease: cerebellar function
cerebellar function 		disease Disease or Syndrome 14 0.010 None 1.000 1 2019 2019
CUI: C0031099
Disease: Periodontitis
Periodontitis 		disease Stomatognathic Diseases Disease or Syndrome 682 116 0.010 None 1.000 1 2019 2019
CUI: C0750403
Disease: Proximal weakness
Proximal weakness 		phenotype Sign or Symptom 11 2 0.010 None 1.000 1 1991 1991
CUI: C0029464
Disease: Osteosclerosis
Osteosclerosis 		disease Musculoskeletal Diseases Disease or Syndrome 82 1 0.010 None 1.000 1 2011 2011
CUI: C0029463
Disease: Osteosarcoma
Osteosarcoma 		disease Neoplasms Neoplastic Process 2283 178 0.010 None 1.000 1 2019 2019
CUI: C0751265
Disease: Learning Disabilities
Learning Disabilities 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders Mental or Behavioral Dysfunction 103 5 0.010 None 1.000 1 2015 2015
CUI: C0751753
Disease: Carbamoyl-Phosphate Synthase I Deficiency Disease
Carbamoyl-Phosphate Synthase I Deficiency Disease 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 18 0.010 None 1.000 1 2006 2006