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: C0751535
Disease: Syncope, Cardiogenic
Syncope, Cardiogenic 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 1 0.010 None 1.000 1 2003 2003
CUI: C0751358
Disease: Myotonic Phenomenon
Myotonic Phenomenon 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 3 0.300 None 1.000 1 2013 2013
CUI: C1442978
Disease: Hernia of abdominal wall
Hernia of abdominal wall 		disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 4 0.100 None 0
CUI: C1864584
Disease: Frontal balding
Frontal balding 		phenotype Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Finding 4 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: C0751359
Disease: Percussion Myotonia
Percussion Myotonia 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 5 0.300 None 1.000 1 2013 2013
CUI: C4025823
Disease: Abnormality of the endocrine system
Abnormality of the endocrine system 		disease Anatomical Abnormality 7 1 0.100 None 0
CUI: C0154971
Disease: Presenile cataract
Presenile cataract 		disease Eye Diseases Disease or Syndrome 8 2 0.010 None 1.000 1 2002 2002
CUI: C0410226
Disease: Congenital Myotonic Dystrophy
Congenital Myotonic Dystrophy 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 9 0.360 None 1.000 7 1996 2019
CUI: C0027127
Disease: Myotonia Congenita
Myotonia Congenita 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 9 38 0.010 None < 0.001 1 2016 2016
CUI: C0553604
Disease: Myotonic Disorders
Myotonic Disorders 		group Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 9 0.010 None 1.000 1 1998 1998
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: 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: C2936781
Disease: Generalized Myotonia of Thomsen
Generalized Myotonia of Thomsen 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 16 61 0.010 None < 0.001 1 2016 2016
CUI: C4021020
Disease: Non-midline cleft lip
Non-midline cleft lip 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases Congenital Abnormality 16 0.100 None 0
CUI: C1834433
Disease: Obsessive-compulsive trait
Obsessive-compulsive trait 		phenotype Behavior and Behavior Mechanisms Finding 18 1 0.100 None 0
CUI: C0027125
Disease: Myotonia
Myotonia 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 19 7 0.600 limited 1.000 1 2013 2013
CUI: C0085614
Disease: First degree atrioventricular block
First degree atrioventricular block 		disease Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome 26 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: C1533847
Disease: Disorder of skeletal muscle
Disorder of skeletal muscle 		group Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 29 10 0.010 None 1.000 1 2016 2016
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: C4023397
Disease: Abnormal hair quantity
Abnormal hair quantity 		disease Anatomical Abnormality 29 0.100 None 0
CUI: C0546264
Disease: Congenital Fiber Type Disproportion
Congenital Fiber Type Disproportion 		disease Musculoskeletal Diseases; Nervous System Diseases Congenital Abnormality 33 49 0.010 None 1.000 1 2010 2010
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: 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