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: C3463824
Disease: MYELODYSPLASTIC SYNDROME
MYELODYSPLASTIC SYNDROME 		group Hemic and Lymphatic Diseases Neoplastic Process 1033 95 0.090 None 1.000 9 1993 2019
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 0.350 None 0.833 6 1992 2017
CUI: C1828221
Disease: Non dystrophic myotonia
Non dystrophic myotonia 		disease Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 3 0.060 None 0.833 6 2008 2019
CUI: C0027868
Disease: Neuromuscular Diseases
Neuromuscular Diseases 		group Nervous System Diseases Disease or Syndrome 171 50 0.050 None 1.000 5 1992 2019
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		disease Neoplasms Neoplastic Process 3111 6892 0.050 None 1.000 5 2014 2019
CUI: C0221170
Disease: Muscular stiffness
Muscular stiffness 		phenotype Nervous System Diseases Sign or Symptom 92 6 0.140 None 1.000 4 1992 2019
CUI: C0520739
Disease: Hereditary pyropoikilocytosis
Hereditary pyropoikilocytosis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 47 23 0.040 None 1.000 4 1992 2015
CUI: C3149517
Disease: LARYNGOSPASM, SEVERE NEONATAL EPISODIC
LARYNGOSPASM, SEVERE NEONATAL EPISODIC 		disease Disease or Syndrome 1 0.030 None 1.000 3 2010 2015
CUI: C0023066
Disease: Laryngospasm
Laryngospasm 		disease Respiratory Tract Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 48 0.130 None 1.000 3 2013 2018
CUI: C0027126
Disease: Myotonic Dystrophy
Myotonic Dystrophy 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 155 4 0.030 None 0.667 3 2000 2016
CUI: C0042514
Disease: Tachycardia, Ventricular
Tachycardia, Ventricular 		disease Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome 104 31 0.020 None 1.000 2 2009 2012
CUI: C0003811
Disease: Cardiac Arrhythmia
Cardiac Arrhythmia 		phenotype Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome 559 111 0.120 None 1.000 2 2009 2016
CUI: C2931139
Disease: Nondystrophic myotonia
Nondystrophic myotonia 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 2 0.020 None 1.000 2 2011 2018
CUI: C1868598
Disease: PARIETAL FORAMINA
PARIETAL FORAMINA 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 20 5 0.020 None 1.000 2 2006 2012
CUI: C3900098
Disease: Adult Myelodysplastic Syndrome
Adult Myelodysplastic Syndrome 		disease Hemic and Lymphatic Diseases Neoplastic Process 332 20 0.020 None 1.000 2 2017 2018
CUI: C2347761
Disease: Childhood Myelodysplastic Syndrome
Childhood Myelodysplastic Syndrome 		disease Hemic and Lymphatic Diseases Neoplastic Process 335 20 0.020 None 1.000 2 2017 2018
CUI: C0856123
Disease: Myotonia aggravated
Myotonia aggravated 		disease Disease or Syndrome 1 0.020 None 1.000 2 1993 2017
CUI: C0024591
Disease: Malignant hyperpyrexia due to anesthesia
Malignant hyperpyrexia due to anesthesia 		disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 60 52 0.120 None 1.000 2 1995 1998
CUI: C0003578
Disease: Apnea
Apnea 		phenotype Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases Sign or Symptom 262 11 0.020 None 1.000 2 2018 2019
CUI: C3489447
Disease: Hyperkalemic Periodic Paralysis Type 2
Hyperkalemic Periodic Paralysis Type 2 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 1 0.300 None 1.000 1 1991 1991
CUI: C0027019
Disease: Myelomonocytic leukemia
Myelomonocytic leukemia 		disease Neoplasms Neoplastic Process 36 0.010 None 1.000 1 1995 1995
CUI: C2750473
Disease: THYROTOXIC PERIODIC PARALYSIS, SUSCEPTIBILITY TO, 2
THYROTOXIC PERIODIC PARALYSIS, SUSCEPTIBILITY TO, 2 		disease Finding 2 6 0.300 None 1.000 1 2004 2004
CUI: C0031117
Disease: Peripheral Neuropathy
Peripheral Neuropathy 		group Nervous System Diseases Disease or Syndrome 351 81 0.010 None 1.000 1 2005 2005
CUI: C0151468
Disease: Thyroid Gland Follicular Adenoma
Thyroid Gland Follicular Adenoma 		disease Neoplasms; Endocrine System Diseases Neoplastic Process 202 14 0.010 None 1.000 1 2007 2007
CUI: C0085655
Disease: Polymyositis
Polymyositis 		disease Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 183 22 0.010 None 1.000 1 2000 2000