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: 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: 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: C2749982
Disease: THYROTOXIC PERIODIC PARALYSIS, SUSCEPTIBILITY TO, 1
THYROTOXIC PERIODIC PARALYSIS, SUSCEPTIBILITY TO, 1 		disease Finding 1 1 0.600 moderate 0 1
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: C0268445
Disease: Normokalemic Periodic Paralysis
Normokalemic Periodic Paralysis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 2 3 0.010 None 1.000 1 2017 2017
CUI: C4025238
Disease: Generalized morning stiffness
Generalized morning stiffness 		phenotype Finding 2 1 0.100 None 0 1
CUI: C4073214
Disease: Abnormality of masseter muscle
Abnormality of masseter muscle 		phenotype Anatomical Abnormality 2 0.100 None 0
CUI: C4531203
Disease: Cardiomyocyte mitochondrial proliferation
Cardiomyocyte mitochondrial proliferation 		phenotype Finding 2 0.100 None 0
CUI: C1838647
Disease: RETINITIS PIGMENTOSA 12 (disorder)
RETINITIS PIGMENTOSA 12 (disorder) 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 3 38 0.010 None 1.000 1 1996 1996
CUI: C0154141
Disease: Thyrotoxicosis with toxic single thyroid nodule
Thyrotoxicosis with toxic single thyroid nodule 		disease Endocrine System Diseases Disease or Syndrome 3 0.100 None 0
CUI: C0742747
Disease: High-output congestive heart failure
High-output congestive heart failure 		disease Cardiovascular Diseases Disease or Syndrome 3 0.100 None 0
CUI: C4023104
Disease: Intermittent painful muscle spasms
Intermittent painful muscle spasms 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 3 1 0.100 None 0
CUI: C3714697
Disease: AV Block Second Degree by ECG Finding
AV Block Second Degree by ECG Finding 		phenotype Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Finding 4 0.100 None 0
CUI: C4024709
Disease: Transient hypophosphatemia
Transient hypophosphatemia 		phenotype Nutritional and Metabolic Diseases Finding 4 0.100 None 0
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: C1970117
Disease: Tooth Agenesis, Selective, With Orofacial Cleft
Tooth Agenesis, Selective, 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: 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: C0264906
Disease: Second degree atrioventricular block
Second degree atrioventricular block 		disease Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome 5 1 0.100 None 0
CUI: C3807306
Disease: Acute rhabdomyolysis
Acute rhabdomyolysis 		phenotype Musculoskeletal Diseases Finding 5 2 0.100 None 0
CUI: C4022754
Disease: Episodic hypokalemia
Episodic hypokalemia 		phenotype Nutritional and Metabolic Diseases Finding 5 0.100 None 0
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: C0268024
Disease: Hyperkalemia, diminished renal excretion
Hyperkalemia, diminished renal excretion 		phenotype Digestive System Diseases; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Pathologic Function 6 0.100 None 0
CUI: C0520878
Disease: Shortened PR interval
Shortened PR interval 		phenotype Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Finding 6 0.100 None 0
CUI: C4021526
Disease: Exercise-induced rhabdomyolysis
Exercise-induced rhabdomyolysis 		phenotype Musculoskeletal Diseases Finding 6 1 0.100 None 0
CUI: C4025572
Disease: Episodic flaccid weakness
Episodic flaccid weakness 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 6 2 0.100 None 0