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: C4225367
Disease: MYASTHENIC SYNDROME, CONGENITAL, 11, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY
MYASTHENIC SYNDROME, CONGENITAL, 11, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY 		disease Disease or Syndrome 1 13 0.600 None 1.000 20 13 2002 2014
CUI: C0393933
Disease: Pseudomyopathic myasthenia
Pseudomyopathic myasthenia 		disease Disease or Syndrome 3 0.010 None 1.000 1 2017 2017
CUI: C1837092
Disease: Myasthenic Syndrome, Congenital, with Facial Dysmorphism, associated with Acetylcholine Receptor Deficiency
Myasthenic Syndrome, Congenital, with Facial Dysmorphism, associated with Acetylcholine Receptor Deficiency 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 4 0.300 None 0
CUI: C1837091
Disease: MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY
MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 5 21 0.400 strong 1.000 14 1 2002 2011
CUI: C4021640
Disease: Intestinal hypoplasia
Intestinal hypoplasia 		phenotype Finding 7 0.100 None 0
CUI: C1854678
Disease: MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE
MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome 8 13 0.300 None 0
CUI: C0265261
Disease: Multiple pterygium syndrome
Multiple pterygium syndrome 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Congenital Abnormality 9 11 0.010 None 1.000 1 2008 2008
CUI: C4021262
Disease: Absent palmar crease
Absent palmar crease 		phenotype Finding 9 0.100 None 0
CUI: C3151520
Disease: Early severe fetal akinesia sequence
Early severe fetal akinesia sequence 		phenotype Finding 12 15 0.100 None 1.000 1 1 2020 2020
CUI: C0085619
Disease: Orthopnea
Orthopnea 		phenotype Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases Finding 13 0.100 None 0
CUI: C1853952
Disease: Decreased miniature endplate potentials
Decreased miniature endplate potentials 		phenotype Finding 13 0.100 None 0
CUI: C4022584
Disease: Fatigable weakness of neck muscles
Fatigable weakness of neck muscles 		phenotype Finding 13 0.100 None 0
CUI: C4025615
Disease: Decreased size of nerve terminals
Decreased size of nerve terminals 		disease Anatomical Abnormality 15 0.100 None 0
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: C3279725
Disease: Hip flexor weakness
Hip flexor weakness 		phenotype Finding 16 1 0.100 None 0
CUI: C4073190
Disease: Abnormality of masticatory muscle
Abnormality of masticatory muscle 		phenotype Anatomical Abnormality 17 0.100 None 0
CUI: C0751885
Disease: Myasthenic Syndromes, Congenital, Slow Channel
Myasthenic Syndromes, Congenital, Slow Channel 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 18 1 0.010 None 1.000 1 1 2017 2017
CUI: C2230441
Disease: Triceps weakness
Triceps weakness 		phenotype Finding 18 0.100 None 0
CUI: C4024601
Disease: Weakness of long finger extensor muscles
Weakness of long finger extensor muscles 		phenotype Finding 18 0.100 None 0
CUI: C4015465
Disease: Thoracic kyphoscoliosis
Thoracic kyphoscoliosis 		phenotype Finding 19 0.100 None 0
CUI: C1834536
Disease: Weakness of the intrinsic hand muscles
Weakness of the intrinsic hand muscles 		phenotype Finding 21 0.100 None 0
CUI: C4021728
Disease: EMG: decremental response of compound muscle action potential to repetitive nerve stimulation
EMG: decremental response of compound muscle action potential to repetitive nerve stimulation 		phenotype Finding 24 0.100 None 0
CUI: C0476408
Disease: Reduced vital capacity
Reduced vital capacity 		phenotype Finding 29 0.100 None 0
CUI: C1843637
Disease: Neck flexor weakness
Neck flexor weakness 		phenotype Finding 30 0.100 None 0
CUI: C0013144
Disease: Drowsiness
Drowsiness 		phenotype Mental Disorders Finding 31 3 0.100 None 0