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: C0339528
Disease: X-linked retinitis pigmentosa
X-linked retinitis pigmentosa 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Congenital Abnormality 29 7 0.010 None 1.000 1 1989 1989
CUI: C0410165
Disease: X-linked muscular dystrophy with abnormal dystrophin
X-linked muscular dystrophy with abnormal dystrophin 		disease Disease or Syndrome 1 0.010 None < 0.001 1 1993 1993
CUI: C0342482
Disease: X-linked Adrenal Hypoplasia
X-linked Adrenal Hypoplasia 		disease Endocrine System Diseases Disease or Syndrome 57 70 0.050 None 1.000 5 1988 2011
CUI: C1845977
Disease: X- linked recessive
X- linked recessive 		phenotype Finding 172 1 0.100 None 0
CUI: C1846151
Disease: Widened subarachnoid space
Widened subarachnoid space 		phenotype Finding 35 1 0.100 None 0
CUI: C1844806
Disease: Weight less than 3rd percentile
Weight less than 3rd percentile 		phenotype Finding 22 27 0.100 None 0 1
CUI: C0043046
Disease: Wasting Syndrome
Wasting Syndrome 		disease Nutritional and Metabolic Diseases Disease or Syndrome 26 2 0.100 None 1.000 10 1992 2019
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: C0339510
Disease: Vitelliform Macular Dystrophy
Vitelliform Macular Dystrophy 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 74 120 0.100 None 0.951 81 1987 2020
CUI: C0042870
Disease: Vitamin D Deficiency
Vitamin D Deficiency 		disease Nutritional and Metabolic Diseases Disease or Syndrome 153 37 0.020 None 1.000 2 2017 2018
CUI: C0042769
Disease: Virus Diseases
Virus Diseases 		group Infections Disease or Syndrome 1471 42 0.010 None 1.000 1 2010 2010
CUI: C0242973
Disease: Ventricular Dysfunction
Ventricular Dysfunction 		phenotype Cardiovascular Diseases Pathologic Function 11 0.300 None 1.000 1 2010 2010
CUI: C0264733
Disease: Ventricular dilatation (disorder)
Ventricular dilatation (disorder) 		disease Cardiovascular Diseases Disease or Syndrome 13 0.010 None 1.000 1 2019 2019
CUI: C0042373
Disease: Vascular Diseases
Vascular Diseases 		group Cardiovascular Diseases Disease or Syndrome 688 40 0.010 None 1.000 1 2015 2015
CUI: C0342649
Disease: Vascular calcification
Vascular calcification 		phenotype Nutritional and Metabolic Diseases Disease or Syndrome 257 3 0.010 None 1.000 1 2009 2009
CUI: C0522153
Disease: Urine Discoloration
Urine Discoloration 		phenotype Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Finding 10 1 0.100 None 0
CUI: C0042024
Disease: Urinary Incontinence
Urinary Incontinence 		phenotype Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Pathologic Function 151 14 0.100 None 0
CUI: C0410179
Disease: Ullrich congenital muscular dystrophy 1
Ullrich congenital muscular dystrophy 1 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 17 34 0.020 None 1.000 2 2013 2017
CUI: C4551860
Disease: Ullrich congenital muscular dystrophy
Ullrich congenital muscular dystrophy 		disease Disease or Syndrome 7 0.010 None 1.000 1 2017 2017
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis 		disease Digestive System Diseases Disease or Syndrome 1458 827 0.010 None 1.000 1 2017 2017
CUI: C0041408
Disease: Turner Syndrome
Turner Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases; Cardiovascular Diseases Disease or Syndrome 162 21 0.020 None 1.000 2 2004 2009
CUI: C0263628
Disease: Tumoral calcinosis
Tumoral calcinosis 		disease Nutritional and Metabolic Diseases Disease or Syndrome 45 3 0.300 None 1.000 1 2008 2008
CUI: C0178874
Disease: Tumor Progression
Tumor Progression 		phenotype Pathological Conditions, Signs and Symptoms Neoplastic Process 3865 72 0.030 None 1.000 3 2005 2019
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion 		phenotype Neoplastic Process 6626 169 0.030 None 1.000 3 2007 2017
CUI: C0041296
Disease: Tuberculosis
Tuberculosis 		disease Infections Disease or Syndrome 1256 328 0.010 None 1.000 1 2008 2008