Source: CLINVAR ×
Associated Disease N. genes N. variants N. of shared genes JI g p-value g N. of shared variants JI v p-value v
CUI: C0013264
Disease: Muscular Dystrophy, Duchenne
Muscular Dystrophy, Duchenne 		1 0 1 2.7E-02 0 0
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II 		1 165 1 2.7E-02 1 4.4E-03
CUI: C0018800
Disease: Cardiomegaly
Cardiomegaly 		1 0 1 2.7E-02 0 0
CUI: C0020450
Disease: Hyperemesis Gravidarum
Hyperemesis Gravidarum 		1 3 1 2.7E-02 3 4.8E-02
CUI: C0024591
Disease: Malignant hyperpyrexia due to anesthesia
Malignant hyperpyrexia due to anesthesia 		1 0 1 2.7E-02 0 0
CUI: C0027888
Disease: Hereditary Motor and Sensory Neuropathies
Hereditary Motor and Sensory Neuropathies 		1 0 1 2.7E-02 0 0
CUI: C0221055
Disease: Paramyotonia Congenita (disorder)
Paramyotonia Congenita (disorder) 		1 0 1 2.7E-02 0 0
CUI: C0221347
Disease: Acrocyanosis
Acrocyanosis 		1 0 1 2.7E-02 0 0
CUI: C0235025
Disease: Peripheral motor neuropathy
Peripheral motor neuropathy 		1 1 1 2.7E-02 1 1.6E-02
CUI: C0238357
Disease: Hyperkalemic periodic paralysis
Hyperkalemic periodic paralysis 		1 27 1 2.7E-02 1 1.1E-02
CUI: C0266050
Disease: Failure of exfoliation of primary tooth
Failure of exfoliation of primary tooth 		1 0 1 2.7E-02 0 0
CUI: C0270959
Disease: Myotonia Levior
Myotonia Levior 		1 0 1 2.7E-02 0 0
CUI: C0270960
Disease: Congenital myopathy (disorder)
Congenital myopathy (disorder) 		1 0 1 2.7E-02 0 0
CUI: C0333759
Disease: Muscle fiber hypertrophy
Muscle fiber hypertrophy 		1 1 1 2.7E-02 1 1.6E-02
CUI: C0342784
Disease: Pearson's marrow-pancreas syndrome
Pearson's marrow-pancreas syndrome 		1 0 1 2.7E-02 0 0
CUI: C0344490
Disease: Sacral agenesis
Sacral agenesis 		1 0 1 2.7E-02 0 0
CUI: C0399572
Disease: Hypoplasia of mandibular condyle
Hypoplasia of mandibular condyle 		1 2 1 2.7E-02 2 3.2E-02
CUI: C0410180
Disease: Eichsfeld type congenital muscular dystrophy
Eichsfeld type congenital muscular dystrophy 		1 22 1 2.7E-02 3 3.7E-02
CUI: C0410203
Disease: X-linked centronuclear myopathy
X-linked centronuclear myopathy 		1 138 1 2.7E-02 1 5.0E-03
CUI: C0577655
Disease: Quadriceps weakness
Quadriceps weakness 		1 1 1 2.7E-02 1 1.6E-02
CUI: C0685381
Disease: Congenital hypoplasia of radius
Congenital hypoplasia of radius 		1 3 1 2.7E-02 3 4.8E-02
CUI: C0751173
Disease: Glycogen Storage Disease Type II, Infantile
Glycogen Storage Disease Type II, Infantile 		1 0 1 2.7E-02 0 0
CUI: C0751336
Disease: Distal Muscular Dystrophies
Distal Muscular Dystrophies 		1 1 1 2.7E-02 1 1.6E-02
CUI: C0751360
Disease: Becker Generalized Myotonia
Becker Generalized Myotonia 		1 51 1 2.7E-02 1 8.8E-03
CUI: C0751951
Disease: Central Core Myopathy (disorder)
Central Core Myopathy (disorder) 		1 0 1 2.7E-02 0 0