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: C1868938
Disease: End stage cardiac failure
End stage cardiac failure
disease Disease or Syndrome 76 2 0.010 None 1.000 1 2010 2010
Idiopathic normal pressure hydrocephalus (INPH)
disease Disease or Syndrome 25 0.010 None 1.000 1 2018 2018
CUI: C1963961
Disease: Testosterone deficiency
Testosterone deficiency
disease Disease or Syndrome 24 1 0.010 None 1.000 1 2008 2008
CUI: C2347748
Disease: Adult Erythroleukemia
Adult Erythroleukemia
disease Neoplastic Process 236 4 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 2005 2005
CUI: C3160814
Disease: Cannabis use
Cannabis use
disease Mental or Behavioral Dysfunction 74 44 0.010 None < 0.001 1 2017 2017
CUI: C3203509
Disease: Neuropsychiatric syndrome
Neuropsychiatric syndrome
disease Disease or Syndrome 6 0.010 None 1.000 1 2020 2020
CUI: C3844818
Disease: Attention Deficit Hyper Activity
Attention Deficit Hyper Activity
disease Disease or Syndrome 1 0.010 None 1.000 1 2017 2017
Human immunodeficiency virus (HIV) II infection category B1
disease Disease or Syndrome 985 56 0.010 None 1.000 1 2017 2017
CUI: C4321245
Disease: Cleft lip or lips
Cleft lip or lips
phenotype Anatomical Abnormality 78 37 0.010 None 1.000 1 2013 2013
CUI: C4551583
Disease: Cerebral cortical atrophy
Cerebral cortical atrophy
disease Disease or Syndrome 271 13 0.010 None 1.000 1 2019 2019
CUI: C4551596
Disease: Abnormal renal morphology
Abnormal renal morphology
disease Congenital Abnormality 35 3 0.010 None 1.000 1 2019 2019
Ullrich congenital muscular dystrophy
disease Disease or Syndrome 7 0.010 None 1.000 1 2017 2017
CUI: C0000921
Disease: Accidental Falls
Accidental Falls
phenotype Injury or Poisoning 22 0.100 None 0
CUI: C0034935
Disease: Babinski Reflex
Babinski Reflex
phenotype Finding 218 11 0.100 None 0
CUI: C0234182
Disease: Gowers sign
Gowers sign
phenotype Finding 54 8 0.100 None 0 1
CUI: C0239174
Disease: Late tooth eruption
Late tooth eruption
phenotype Finding 139 4 0.100 None 0
Creatine phosphokinase serum increased
phenotype Finding 228 43 0.100 None 0 8
CUI: C0349588
Disease: Short stature
Short stature
phenotype Finding 1127 292 0.100 None 0 1
CUI: C0423110
Disease: Downward slant of palpebral fissure
Downward slant of palpebral fissure
phenotype Finding 391 49 0.100 None 0
CUI: C0424551
Disease: Impaired exercise tolerance
Impaired exercise tolerance
phenotype Finding 76 7 0.100 None 0
CUI: C0426429
Disease: Broad nasal tip
Broad nasal tip
phenotype Finding 125 8 0.100 None 0
CUI: C0427144
Disease: Toe-walking gait
Toe-walking gait
phenotype Finding 50 4 0.100 None 0
CUI: C0427515
Disease: Neutrophil abnormality
Neutrophil abnormality
phenotype Finding 74 1 0.100 None 0
CUI: C0476403
Disease: Electromyogram abnormal
Electromyogram abnormal
phenotype Finding 130 12 0.100 None 0 1