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: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		67 6385 1 9.0E-03 1 1.5E-04
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		303 505 2 5.8E-03 2 3.0E-03
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		29 468 16 0.28 36 6.0E-02
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		43 443 22 0.33 32 5.5E-02
CUI: C0036572
Disease: Seizures
Seizures 		237 417 2 7.1E-03 1 1.7E-03
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		24 332 16 0.30 36 7.7E-02
CUI: C1858763
Disease: Cardiomyopathy, Dilated, 1g
Cardiomyopathy, Dilated, 1g 		2 306 2 4.4E-02 8 1.7E-02
CUI: C0349588
Disease: Short stature
Short stature 		190 292 3 1.3E-02 1 2.2E-03
CUI: C1837342
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J 		2 230 2 4.4E-02 8 2.0E-02
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		128 164 1 5.8E-03 1 3.0E-03
CUI: C3668940
Disease: Dmd-Associated Dilated Cardiomyopathy
Dmd-Associated Dilated Cardiomyopathy 		1 164 1 2.2E-02 1 3.0E-03
CUI: C0013264
Disease: Muscular Dystrophy, Duchenne
Muscular Dystrophy, Duchenne 		1 151 1 2.2E-02 1 3.1E-03
CUI: C0270914
Disease: Hereditary Motor and Sensory-Neuropathy Type II
Hereditary Motor and Sensory-Neuropathy Type II 		6 138 1 2.0E-02 4 1.3E-02
CUI: C0002986
Disease: Fabry Disease
Fabry Disease 		2 135 2 4.4E-02 2 6.6E-03
CUI: C0268579
Disease: Propionic acidemia
Propionic acidemia 		3 114 1 2.1E-02 3 1.1E-02
CUI: C0349788
Disease: Arrhythmogenic Right Ventricular Dysplasia
Arrhythmogenic Right Ventricular Dysplasia 		11 108 7 0.14 6 2.2E-02
CUI: C1861862
Disease: Familial Hypertrophic Cardiomyopathy Type 4
Familial Hypertrophic Cardiomyopathy Type 4 		3 96 1 2.1E-02 11 4.3E-02
CUI: C3495498
Disease: Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
Cardiomyopathy, Familial Hypertrophic, 1 (disorder) 		7 93 4 8.3E-02 7 2.7E-02
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		54 69 1 1.0E-02 1 4.2E-03
CUI: C1843896
Disease: Arrhythmogenic Right Ventricular Dysplasia, Familial, 8
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8 		1 66 1 2.2E-02 3 1.3E-02
CUI: C0026848
Disease: Myopathy
Myopathy 		37 63 6 7.9E-02 1 4.3E-03
CUI: C0009691
Disease: Congenital cataract
Congenital cataract 		32 61 2 2.7E-02 1 4.3E-03
CUI: C1836906
Disease: Arrhythmogenic Right Ventricular Dysplasia, Familial, 9
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9 		5 61 5 0.11 6 2.6E-02
CUI: C2973725
Disease: Pulmonary arterial hypertension
Pulmonary arterial hypertension 		13 60 2 3.6E-02 1 4.3E-03
CUI: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia 		44 58 2 2.3E-02 1 4.4E-03