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: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		237 0 3 1.2E-02 0 0
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		54 0 1 1.5E-02 0 0
CUI: C0005744
Disease: Blepharophimosis
Blepharophimosis 		8 0 1 4.8E-02 0 0
CUI: C0006325
Disease: Bruxism
Bruxism 		4 0 1 5.9E-02 0 0
CUI: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia 		44 0 2 3.6E-02 0 0
CUI: C0008489
Disease: Chorea
Chorea 		11 0 1 4.2E-02 0 0
CUI: C0009952
Disease: Febrile Convulsions
Febrile Convulsions 		12 0 1 4.0E-02 0 0
CUI: C0014544
Disease: Epilepsy
Epilepsy 		32 0 1 2.2E-02 0 0
CUI: C0014547
Disease: Epilepsies, Partial
Epilepsies, Partial 		8 0 2 1.0E-01 0 0
CUI: C0020555
Disease: Hypertrichosis
Hypertrichosis 		14 0 1 3.7E-02 0 0
CUI: C0020676
Disease: Hypothyroidism
Hypothyroidism 		25 0 1 2.6E-02 0 0
CUI: C0023473
Disease: Myeloid Leukemia, Chronic
Myeloid Leukemia, Chronic 		5 0 1 5.6E-02 0 0
CUI: C0025149
Disease: Medulloblastoma
Medulloblastoma 		18 0 1 3.2E-02 0 0
CUI: C0025362
Disease: Mental Retardation
Mental Retardation 		28 0 1 2.4E-02 0 0
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability 		74 0 2 2.3E-02 0 0
CUI: C0026837
Disease: Muscle Rigidity
Muscle Rigidity 		8 0 1 4.8E-02 0 0
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		67 0 1 1.3E-02 0 0
CUI: C0035309
Disease: Retinal Diseases
Retinal Diseases 		2 0 1 6.7E-02 0 0
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		4 0 2 0.12 0 0
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		6 0 1 5.3E-02 0 0
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability 		43 0 3 5.6E-02 0 0
CUI: C0037769
Disease: West Syndrome
West Syndrome 		3 0 1 6.2E-02 0 0
CUI: C0038379
Disease: Strabismus
Strabismus 		61 0 1 1.4E-02 0 0
CUI: C0085583
Disease: Choreoathetosis
Choreoathetosis 		6 0 1 5.3E-02 0 0
CUI: C0086437
Disease: Joint laxity
Joint laxity 		14 0 1 3.7E-02 0 0