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.
MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 5 21 0.900 strong 1.000 6 18 1996 2011
MYASTHENIC SYNDROME, CONGENITAL, 4A, SLOW-CHANNEL
disease Disease or Syndrome 2 17 0.800 strong 1.000 14 17 1995 2016
MYASTHENIC SYNDROME, CONGENITAL, 4B, FAST-CHANNEL
disease Disease or Syndrome 2 6 0.600 strong 1.000 4 6 1996 2012
MYASTHENIC SYNDROME, CONGENITAL, 1A, SLOW-CHANNEL
disease Disease or Syndrome 4 8 0.300 strong 1.000 1 2011 2011
Myasthenic Syndrome, Congenital, Fast-Channel
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 3 0.300 None 0
CUI: C1853949
Disease: MYASTHENIA, FAMILIAL INFANTILE, 1
MYASTHENIA, FAMILIAL INFANTILE, 1
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 1 0.300 None 0
CUI: C0751882
Disease: Myasthenic Syndromes, Congenital
Myasthenic Syndromes, Congenital
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 57 40 0.200 None 1.000 24 5 1997 2018
CUI: C0751401
Disease: Ophthalmoparesis
Ophthalmoparesis
phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Sign or Symptom 61 4 0.110 None 1.000 1 1999 1999
CUI: C0947912
Disease: Myasthenias
Myasthenias
disease Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 41 3 0.110 None 1.000 1 2015 2015
CUI: C0032181
Disease: Platelet Count measurement
Platelet Count measurement
phenotype Laboratory Procedure 265 457 0.100 None 1.000 4 4 2010 2018
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement
phenotype Laboratory Procedure 1156 2575 0.100 None 1.000 2 2 2018 2018
Platelet mean volume determination (procedure)
phenotype Laboratory Procedure 223 371 0.100 None 1.000 2 2 2012 2016
CUI: C2751260
Disease: Macrothrombocytopenia
Macrothrombocytopenia
disease Hemic and Lymphatic Diseases Disease or Syndrome 34 31 0.100 None 1.000 1 2 2019 2019
CUI: C0040420
Disease: Tonometry
Tonometry
phenotype Diagnostic Procedure 206 573 0.100 None 1.000 1 1 2017 2017
Impaired ristocetin-induced platelet aggregation
phenotype Pathologic Function 6 1 0.100 None 1.000 1 1 2019 2019
CUI: C0019163
Disease: Hepatitis B
Hepatitis B
disease Digestive System Diseases; Infections Disease or Syndrome 1449 519 0.100 None 1.000 1 1 2011 2011
CUI: C0596887
Disease: mathematical ability
mathematical ability
phenotype Mental Process 854 2127 0.100 None 1.000 1 1 2018 2018
Platelet Component Distribution Width Measurement
phenotype Laboratory Procedure 134 200 0.100 None 1.000 1 2 2016 2016
CUI: C0040034
Disease: Thrombocytopenia
Thrombocytopenia
phenotype Hemic and Lymphatic Diseases Disease or Syndrome 592 110 0.100 None 1.000 1 3 2019 2019
CUI: C2228039
Disease: Ankle weakness
Ankle weakness
phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases Finding 16 0.100 None 0
CUI: C2230441
Disease: Triceps weakness
Triceps weakness
phenotype Finding 18 0.100 None 0
CUI: C2267233
Disease: Neonatal Hypotonia
Neonatal Hypotonia
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 169 45 0.100 None 0
CUI: C1854387
Disease: Type 1 muscle fiber predominance
Type 1 muscle fiber predominance
phenotype Finding 44 0.100 None 0
CUI: C2674608
Disease: Feeding difficulties in infancy
Feeding difficulties in infancy
phenotype Finding 305 22 0.100 None 0
CUI: C1837658
Disease: Gross motor development delay
Gross motor development delay
disease Mental Disorders Disease or Syndrome 118 59 0.100 None 0