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: C0151786
Disease: Muscle Weakness
Muscle Weakness 		phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases Sign or Symptom 536 87 0.500 None 0.919 37 1 1987 2019
CUI: C0026821
Disease: Muscle Cramp
Muscle Cramp 		phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases Sign or Symptom 26 8 0.030 None 1.000 3 1 1993 2015
CUI: C0015672
Disease: Fatigue
Fatigue 		phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 760 67 0.120 None 1.000 2 2017 2018
CUI: C0019559
Disease: Hip joint pain
Hip joint pain 		phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases Sign or Symptom 24 0.020 None 1.000 2 2017 2019
CUI: C0231528
Disease: Myalgia
Myalgia 		phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases Sign or Symptom 226 22 0.120 None 1.000 2 1 1996 2019
CUI: C4551516
Disease: Hip pain
Hip pain 		phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases Sign or Symptom 21 0.020 None 1.000 2 2017 2019
CUI: C0004604
Disease: Back Pain
Back Pain 		phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 110 10 0.010 None 1.000 1 2020 2020
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: C0036572
Disease: Seizures
Seizures 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 2152 553 0.010 None 1.000 1 2019 2019
CUI: C0037384
Disease: Snoring
Snoring 		phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 23 0.010 None 1.000 1 2019 2019
CUI: C0241705
Disease: Difficulty passing urine
Difficulty passing urine 		phenotype Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Sign or Symptom 2 1 0.010 None 1.000 1 2019 2019
CUI: C0741933
Disease: cardiac symptom
cardiac symptom 		phenotype Sign or Symptom 9 2 0.010 None 1.000 1 2016 2016
CUI: C0750403
Disease: Proximal weakness
Proximal weakness 		phenotype Sign or Symptom 11 2 0.010 None 1.000 1 1991 1991
CUI: C0877009
Disease: Muscle fibrosis
Muscle fibrosis 		phenotype Sign or Symptom 34 0.010 None 1.000 1 2014 2014
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: C1850830
Disease: Exercise-induced myalgia
Exercise-induced myalgia 		phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases Sign or Symptom 37 4 0.110 None 1.000 1 1 1995 1995
CUI: C0037763
Disease: Spasm
Spasm 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 172 9 0.100 None 0 1
CUI: C0231712
Disease: Waddling gait
Waddling gait 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 113 8 0.100 None 0
CUI: C0006663
Disease: Calcinosis
Calcinosis 		phenotype Nutritional and Metabolic Diseases Pathologic Function 52 0.300 None 1.000 1 2008 2008
CUI: C0026846
Disease: Muscular Atrophy
Muscular Atrophy 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Pathologic Function 49 0.200 None 1.000 1 2002 2002
CUI: C0027626
Disease: Neoplasm Invasiveness
Neoplasm Invasiveness 		phenotype Pathological Conditions, Signs and Symptoms; Neoplasms Pathologic Function 193 0.300 None 1.000 1 2014 2014
CUI: C0035304
Disease: Retinal Degeneration
Retinal Degeneration 		phenotype Eye Diseases Pathologic Function 125 2 0.200 None 1.000 1 1999 1999
CUI: C0242973
Disease: Ventricular Dysfunction
Ventricular Dysfunction 		phenotype Cardiovascular Diseases Pathologic Function 11 0.300 None 1.000 1 2010 2010
CUI: C0521174
Disease: Microcalcification
Microcalcification 		phenotype Nutritional and Metabolic Diseases Pathologic Function 42 0.300 None 1.000 1 2008 2008