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: C0001807
Disease: Aggressive behavior
Aggressive behavior 		13 0 1 1.0E-02 0 0
CUI: C0004106
Disease: Astigmatism
Astigmatism 		15 0 2 2.0E-02 0 0
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		37 0 1 8.1E-03 0 0
CUI: C0008525
Disease: Choroideremia
Choroideremia 		1 0 1 1.1E-02 0 0
CUI: C0008732
Disease: Chylous Ascites
Chylous Ascites 		1 0 1 1.1E-02 0 0
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		36 0 1 8.1E-03 0 0
CUI: C0011053
Disease: Deafness
Deafness 		23 0 3 2.8E-02 0 0
CUI: C0011168
Disease: Deglutition Disorders
Deglutition Disorders 		31 0 1 8.5E-03 0 0
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus 		6 0 1 1.1E-02 0 0
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		29 0 1 8.6E-03 0 0
CUI: C0013421
Disease: Dystonia
Dystonia 		42 0 1 7.8E-03 0 0
CUI: C0013423
Disease: Dystonia Musculorum Deformans
Dystonia Musculorum Deformans 		1 0 1 1.1E-02 0 0
CUI: C0013528
Disease: Echolalia
Echolalia 		2 0 1 1.1E-02 0 0
CUI: C0014067
Disease: Occipital Encephalocele
Occipital Encephalocele 		6 0 1 1.1E-02 0 0
CUI: C0014544
Disease: Epilepsy
Epilepsy 		32 0 2 1.7E-02 0 0
CUI: C0015732
Disease: Fecal Incontinence
Fecal Incontinence 		10 0 1 1.0E-02 0 0
CUI: C0018523
Disease: Hallervorden-Spatz Syndrome
Hallervorden-Spatz Syndrome 		1 0 1 1.1E-02 0 0
CUI: C0018780
Disease: Hearing Loss, High-Frequency
Hearing Loss, High-Frequency 		1 0 1 1.1E-02 0 0
CUI: C0018784
Disease: Sensorineural Hearing Loss (disorder)
Sensorineural Hearing Loss (disorder) 		39 0 1 7.9E-03 0 0
CUI: C0019572
Disease: Hirsutism
Hirsutism 		12 0 1 1.0E-02 0 0
CUI: C0020505
Disease: Hyperphagia
Hyperphagia 		3 0 1 1.1E-02 0 0
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		63 0 1 6.7E-03 0 0
CUI: C0024437
Disease: Macular degeneration
Macular degeneration 		7 0 3 3.3E-02 0 0
CUI: C0025160
Disease: Megacolon
Megacolon 		7 0 1 1.1E-02 0 0
CUI: C0026010
Disease: Microphthalmos
Microphthalmos 		17 0 1 9.6E-03 0 0