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: C0155145
Disease: Chronic conjunctivitis
Chronic conjunctivitis 		disease Eye Diseases Disease or Syndrome 1 0.200 None 1.000 1 2018 2018
CUI: C0546466
Disease: Idiopathic cardiac hypertrophy
Idiopathic cardiac hypertrophy 		disease Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome 2 0.010 None 1.000 1 2005 2005
CUI: C1845861
Disease: MENTAL RETARDATION, X-LINKED, WITH SHORT STATURE, HYPOGONADISM, AND ABNORMAL GAIT
MENTAL RETARDATION, X-LINKED, WITH SHORT STATURE, HYPOGONADISM, AND ABNORMAL GAIT 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 2 10 0.010 None 1.000 1 2020 2020
CUI: C4510989
Disease: Vasculitis of medium sized vessel
Vasculitis of medium sized vessel 		disease Cardiovascular Diseases Disease or Syndrome 3 1 0.010 None 1.000 1 2019 2019
CUI: C0151654
Disease: Myocardial fibrosis
Myocardial fibrosis 		phenotype Pathological Conditions, Signs and Symptoms Pathologic Function 5 0.100 None 0
CUI: C3805040
Disease: Phospholipidosis
Phospholipidosis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 8 0.010 None 1.000 1 2018 2018
CUI: C1855578
Disease: Exercise-induced muscle cramps
Exercise-induced muscle cramps 		phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases Finding 8 1 0.100 None 0
CUI: C4551633
Disease: Pigmentary retinal dystrophy
Pigmentary retinal dystrophy 		disease Eye Diseases Disease or Syndrome 9 4 0.010 None 1.000 1 2007 2007
CUI: C1689817
Disease: Cardiomyopathy associated with another disorder
Cardiomyopathy associated with another disorder 		disease Cardiovascular Diseases Disease or Syndrome 10 0.010 None 1.000 1 2015 2015
CUI: C0878677
Disease: Glycogen Storage Disease Type IIb
Glycogen Storage Disease Type IIb 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 11 40 1.000 definitive 1.000 82 38 1995 2020
CUI: C1839615
Disease: X-linked myopathy with excessive autophagy
X-linked myopathy with excessive autophagy 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 14 9 0.040 None 1.000 4 2006 2016
CUI: C2931230
Disease: Vacuolar myopathy
Vacuolar myopathy 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 16 1 0.040 None 1.000 4 2006 2016
CUI: C0026825
Disease: Flaccid Muscle Tone
Flaccid Muscle Tone 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 16 0.100 None 0
CUI: C0600228
Disease: Cardiopulmonary Arrest
Cardiopulmonary Arrest 		phenotype Cardiovascular Diseases Pathologic Function 16 0.100 None 0
CUI: C0032915
Disease: Preexcitation Syndrome
Preexcitation Syndrome 		disease Cardiovascular Diseases Disease or Syndrome 20 2 0.010 None 1.000 1 2005 2005
CUI: C0559106
Disease: Ventricular preexcitation
Ventricular preexcitation 		disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 20 2 0.010 None 1.000 1 2005 2005
CUI: C1849140
Disease: SPASTIC ATAXIA, CHARLEVOIX-SAGUENAY TYPE
SPASTIC ATAXIA, CHARLEVOIX-SAGUENAY TYPE 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 23 240 0.010 None 1.000 1 2017 2017
CUI: C2609259
Disease: Symphysis Pubis Dysfunction
Symphysis Pubis Dysfunction 		disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 23 4 0.010 None 1.000 1 2018 2018
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 2005 2005
CUI: C1442837
Disease: Myocardial necrosis
Myocardial necrosis 		disease Cardiovascular Diseases Disease or Syndrome 30 2 0.100 None 0
CUI: C1833662
Disease: INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA
INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders Disease or Syndrome 34 6 0.010 None 1.000 1 2010 2010
CUI: C4324374
Disease: Renal tubular injury
Renal tubular injury 		disease Disease or Syndrome 36 1 0.010 None 1.000 1 2018 2018
CUI: C0086439
Disease: Hypokinesia
Hypokinesia 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 47 2 0.100 None 0
CUI: C0043202
Disease: Wolff-Parkinson-White Syndrome
Wolff-Parkinson-White Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Disease or Syndrome 48 22 0.110 None 1.000 1 2005 2005
CUI: C0342751
Disease: Generalized glycogen storage disease of infants
Generalized glycogen storage disease of infants 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 51 16 0.010 None 1.000 1 2005 2005