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: C0005697
Disease: Neurogenic Urinary Bladder
Neurogenic Urinary Bladder 		7 0 1 2.3E-02 0 0
CUI: C0006157
Disease: Breech Presentation
Breech Presentation 		10 0 1 2.2E-02 0 0
CUI: C0007196
Disease: Restrictive cardiomyopathy
Restrictive cardiomyopathy 		6 0 1 2.4E-02 0 0
CUI: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia 		44 0 1 1.3E-02 0 0
CUI: C0007789
Disease: Cerebral Palsy
Cerebral Palsy 		15 19 1 2.0E-02 1 1.2E-02
CUI: C0008031
Disease: Chest Pain
Chest Pain 		4 0 1 2.5E-02 0 0
CUI: C0008370
Disease: Cholestasis
Cholestasis 		4 0 1 2.5E-02 0 0
CUI: C0009081
Disease: Congenital clubfoot
Congenital clubfoot 		26 0 1 1.6E-02 0 0
CUI: C0010417
Disease: Cryptorchidism
Cryptorchidism 		35 47 1 1.4E-02 1 9.2E-03
CUI: C0013132
Disease: Drooling
Drooling 		14 0 1 2.0E-02 0 0
CUI: C0013264
Disease: Muscular Dystrophy, Duchenne
Muscular Dystrophy, Duchenne 		1 0 1 2.7E-02 0 0
CUI: C0013362
Disease: Dysarthria
Dysarthria 		34 0 1 1.4E-02 0 0
CUI: C0013481
Disease: Ebstein Anomaly
Ebstein Anomaly 		2 0 1 2.6E-02 0 0
CUI: C0014877
Disease: Esotropia
Esotropia 		33 0 1 1.4E-02 0 0
CUI: C0015300
Disease: Exophthalmos
Exophthalmos 		7 0 1 2.3E-02 0 0
CUI: C0015310
Disease: Exotropia
Exotropia 		17 0 1 1.9E-02 0 0
CUI: C0015672
Disease: Fatigue
Fatigue 		18 0 1 1.9E-02 0 0
CUI: C0015732
Disease: Fecal Incontinence
Fecal Incontinence 		10 0 1 2.2E-02 0 0
CUI: C0016202
Disease: Flatfoot
Flatfoot 		30 0 1 1.5E-02 0 0
CUI: C0016522
Disease: Foramen Ovale, Patent
Foramen Ovale, Patent 		11 0 1 2.1E-02 0 0
CUI: C0016751
Disease: Hereditary fructose intolerance syndrome
Hereditary fructose intolerance syndrome 		2 0 1 2.6E-02 0 0
CUI: C0016842
Disease: Congenital pectus excavatum
Congenital pectus excavatum 		26 0 1 1.6E-02 0 0
CUI: C0017919
Disease: Glycogen Storage Disease
Glycogen Storage Disease 		7 8 1 2.3E-02 1 1.4E-02
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II 		1 165 1 2.7E-02 1 4.4E-03
CUI: C0018681
Disease: Headache
Headache 		19 0 1 1.8E-02 0 0