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: C3714580
Disease: Hypokalemic periodic paralysis type 1
Hypokalemic periodic paralysis type 1 		disease Disease or Syndrome 12 24 0.800 None 0.974 38 15 1994 2018
CUI: C0238358
Disease: Hypokalemic periodic paralysis
Hypokalemic periodic paralysis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 19 19 0.700 None 1.000 36 8 1994 2018
CUI: C1866077
Disease: MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 5
MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 5 		phenotype Finding 1 11 0.600 None 1.000 22 11 1994 2015
CUI: C2749982
Disease: THYROTOXIC PERIODIC PARALYSIS, SUSCEPTIBILITY TO, 1
THYROTOXIC PERIODIC PARALYSIS, SUSCEPTIBILITY TO, 1 		disease Finding 1 1 0.600 moderate 0 1
CUI: C0024591
Disease: Malignant hyperpyrexia due to anesthesia
Malignant hyperpyrexia due to anesthesia 		disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 60 52 0.500 None 1.000 23 1 1995 2019
CUI: C0268446
Disease: Thyrotoxic periodic paralysis
Thyrotoxic periodic paralysis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 15 32 0.320 None 1.000 3 2003 2007
CUI: C0270960
Disease: Congenital myopathy (disorder)
Congenital myopathy (disorder) 		group Musculoskeletal Diseases; Nervous System Diseases Congenital Abnormality 63 10 0.320 strong 1.000 2 2017 2018
CUI: C0235063
Disease: Respiratory Depression
Respiratory Depression 		phenotype Respiratory Tract Diseases Pathologic Function 24 5 0.300 None 1.000 1 2010 2010
CUI: C1145670
Disease: Respiratory Failure
Respiratory Failure 		disease Respiratory Tract Diseases Disease or Syndrome 319 23 0.300 None 1.000 1 2010 2010
CUI: C0035229
Disease: Respiratory Insufficiency
Respiratory Insufficiency 		phenotype Respiratory Tract Diseases Pathologic Function 315 15 0.300 None 1.000 1 2010 2010
CUI: C4751572
Disease: Periodic paralysis with transient compartment-like syndrome
Periodic paralysis with transient compartment-like syndrome 		disease Nervous System Diseases Disease or Syndrome 1 0.300 None 1.000 1 2013 2013
CUI: C2930984
Disease: Malignant hyperthermia susceptibility type 5
Malignant hyperthermia susceptibility type 5 		disease Pathological Conditions, Signs and Symptoms Pathologic Function 1 0.300 None 0
CUI: C0030443
Disease: Familial Periodic Paralysis
Familial Periodic Paralysis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 18 10 0.110 None 1.000 1 1 2012 2012
CUI: C0040822
Disease: Tremor
Tremor 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 528 52 0.110 None 1.000 1 1 2000 2000
CUI: C0017654
Disease: Glomerular Filtration Rate
Glomerular Filtration Rate 		phenotype Diagnostic Procedure 399 1033 0.100 None 1.000 5 1 2016 2019
CUI: C0201976
Disease: Creatinine measurement, serum (procedure)
Creatinine measurement, serum (procedure) 		phenotype Laboratory Procedure 124 243 0.100 None 1.000 2 1 2016 2017
CUI: C3489529
Disease: Tooth Agenesis, Familial
Tooth Agenesis, Familial 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases Congenital Abnormality 10 13 0.100 None 1.000 1 1 2018 2018
CUI: C0523953
Disease: Cardiac troponin T measurement
Cardiac troponin T measurement 		phenotype Laboratory Procedure 11 19 0.100 None 1.000 1 1 2019 2019
CUI: C0155922
Disease: Tooth development and eruption disorder
Tooth development and eruption disorder 		disease Mental Disorders; Stomatognathic Diseases Disease or Syndrome 5 8 0.100 None 1.000 1 1 2018 2018
CUI: C0035410
Disease: Rhabdomyolysis
Rhabdomyolysis 		phenotype Musculoskeletal Diseases Pathologic Function 36 15 0.100 None 1.000 1 1 2017 2017
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		disease Mental Disorders Mental or Behavioral Dysfunction 2872 2897 0.100 None 1.000 1 1 2011 2011
CUI: C1970118
Disease: Hypodontia Oligodontia with Orofacial Cleft
Hypodontia Oligodontia with Orofacial Cleft 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases Disease or Syndrome 5 8 0.100 None 1.000 1 1 2018 2018
CUI: C4310638
Disease: TOOTH AGENESIS, SELECTIVE, 9
TOOTH AGENESIS, SELECTIVE, 9 		disease Congenital Abnormality 6 11 0.100 None 1.000 1 1 2018 2018
CUI: C4082304
Disease: Oligodontia
Oligodontia 		disease Congenital Abnormality 62 34 0.100 None 1.000 1 1 2018 2018
CUI: C0042834
Disease: Vital capacity
Vital capacity 		phenotype Clinical Attribute 430 746 0.100 None 1.000 1 1 2019 2019