DMPK, DM1 protein kinase, 1760

N. diseases: 96; N. variants: 3
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: C0574084
Disease: 3-Methylglutaconic aciduria type 3
3-Methylglutaconic aciduria type 3 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Nervous System Diseases Disease or Syndrome 12 13 0.010 None 1.000 1 1997 1997
CUI: C4023397
Disease: Abnormal hair quantity
Abnormal hair quantity 		disease Anatomical Abnormality 29 0.100 None 0
CUI: C4049796
Disease: Abnormality of cardiovascular system morphology
Abnormality of cardiovascular system morphology 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality 198 13 0.100 None 0
CUI: C4025823
Disease: Abnormality of the endocrine system
Abnormality of the endocrine system 		disease Anatomical Abnormality 7 1 0.100 None 0
CUI: C4023641
Disease: Abnormality of the upper urinary tract
Abnormality of the upper urinary tract 		phenotype Anatomical Abnormality 4 0.100 None 0
CUI: C0162309
Disease: Adrenoleukodystrophy
Adrenoleukodystrophy 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Endocrine System Diseases Disease or Syndrome 294 116 0.010 None 1.000 1 2006 2006
CUI: C1527231
Disease: Adrenomyeloneuropathy
Adrenomyeloneuropathy 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Endocrine System Diseases Disease or Syndrome 38 2 0.010 None 1.000 1 2006 2006
CUI: C0279550
Disease: Adult Rhabdomyosarcoma
Adult Rhabdomyosarcoma 		disease Neoplasms Neoplastic Process 509 12 0.010 None 1.000 1 1998 1998
CUI: C0018817
Disease: Atrial Septal Defects
Atrial Septal Defects 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality 384 96 0.010 None 1.000 1 2007 2007
CUI: C0156312
Disease: Atrophy of testis
Atrophy of testis 		disease Male Urogenital Diseases; Endocrine System Diseases Disease or Syndrome 29 0.100 None 0
CUI: C3715208
Disease: AV Block First Degree by ECG Finding
AV Block First Degree by ECG Finding 		phenotype Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Finding 28 0.100 None 0
CUI: C0004509
Disease: Azoospermia
Azoospermia 		disease Male Urogenital Diseases Disease or Syndrome 254 70 0.010 None 1.000 1 2004 2004
CUI: C0004779
Disease: Basal Cell Nevus Syndrome
Basal Cell Nevus Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Musculoskeletal Diseases; Stomatognathic Diseases Neoplastic Process 74 124 0.010 None 1.000 1 2004 2004
CUI: C0521707
Disease: Bilateral cataracts (disorder)
Bilateral cataracts (disorder) 		disease Eye Diseases Disease or Syndrome 166 37 0.020 None 1.000 2 1999 2001
CUI: C1839259
Disease: Bulbo-Spinal Atrophy, X-Linked
Bulbo-Spinal Atrophy, X-Linked 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 126 30 0.010 None 1.000 1 2004 2004
CUI: C0003811
Disease: Cardiac Arrhythmia
Cardiac Arrhythmia 		phenotype Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome 559 111 0.010 None 1.000 1 2004 2004
CUI: C0741916
Disease: Cardiac defects
Cardiac defects 		group Disease or Syndrome 62 2 0.010 None 1.000 1 2016 2016
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		group Cardiovascular Diseases Disease or Syndrome 925 294 0.020 None 1.000 2 2010 2018
CUI: C0086543
Disease: Cataract
Cataract 		disease Eye Diseases Acquired Abnormality 878 124 0.130 None 1.000 3 1999 2007
CUI: C0175709
Disease: Centronuclear myopathy
Centronuclear myopathy 		disease Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 40 13 0.010 None 1.000 1 2014 2014
CUI: C0235946
Disease: Cerebral atrophy
Cerebral atrophy 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 454 44 0.100 None 0
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 208 136 0.010 None 1.000 1 2010 2010
CUI: C0393808
Disease: Charcot-Marie-Tooth disease, X-linked, 1
Charcot-Marie-Tooth disease, X-linked, 1 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 10 82 0.010 None 1.000 1 2010 2010
CUI: C0220611
Disease: Childhood Rhabdomyosarcoma
Childhood Rhabdomyosarcoma 		disease Neoplasms Neoplastic Process 517 12 0.010 None 1.000 1 1998 1998
CUI: C0008350
Disease: Cholelithiasis
Cholelithiasis 		disease Digestive System Diseases Disease or Syndrome 252 90 0.100 None 0