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: C0002418
Disease: Amblyopia
Amblyopia 		17 0 1 4.0E-02 0 0
CUI: C0003499
Disease: Supravalvular aortic stenosis
Supravalvular aortic stenosis 		3 0 1 9.1E-02 0 0
CUI: C0004114
Disease: Astrocytoma
Astrocytoma 		5 0 1 7.7E-02 0 0
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		54 0 1 1.6E-02 0 0
CUI: C0004903
Disease: Beckwith-Wiedemann Syndrome
Beckwith-Wiedemann Syndrome 		3 0 1 9.1E-02 0 0
CUI: C0006118
Disease: Brain Neoplasms
Brain Neoplasms 		13 0 1 4.8E-02 0 0
CUI: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia 		44 0 1 1.9E-02 0 0
CUI: C0007789
Disease: Cerebral Palsy
Cerebral Palsy 		15 0 1 4.3E-02 0 0
CUI: C0009363
Disease: Congenital ocular coloboma (disorder)
Congenital ocular coloboma (disorder) 		11 0 1 5.3E-02 0 0
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms 		31 0 1 2.6E-02 0 0
CUI: C0009782
Disease: Connective Tissue Diseases
Connective Tissue Diseases 		10 0 1 5.6E-02 0 0
CUI: C0009806
Disease: Constipation
Constipation 		40 0 1 2.1E-02 0 0
CUI: C0010051
Disease: Coronary Aneurysm
Coronary Aneurysm 		1 0 1 0.11 0 0
CUI: C0013274
Disease: Patent ductus arteriosus
Patent ductus arteriosus 		23 0 1 3.2E-02 0 0
CUI: C0015672
Disease: Fatigue
Fatigue 		18 0 1 3.8E-02 0 0
CUI: C0016522
Disease: Foramen Ovale, Patent
Foramen Ovale, Patent 		11 0 1 5.3E-02 0 0
CUI: C0017168
Disease: Gastroesophageal reflux disease
Gastroesophageal reflux disease 		2 0 1 1.0E-01 0 0
CUI: C0018784
Disease: Sensorineural Hearing Loss (disorder)
Sensorineural Hearing Loss (disorder) 		39 0 1 2.1E-02 0 0
CUI: C0018799
Disease: Heart Diseases
Heart Diseases 		1 0 1 0.11 0 0
CUI: C0018808
Disease: Heart murmur
Heart murmur 		11 0 1 5.3E-02 0 0
CUI: C0018818
Disease: Ventricular Septal Defects
Ventricular Septal Defects 		31 0 1 2.6E-02 0 0
CUI: C0019209
Disease: Hepatomegaly
Hepatomegaly 		21 0 1 3.4E-02 0 0
CUI: C0020295
Disease: Hydronephrosis
Hydronephrosis 		17 0 1 4.0E-02 0 0
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		25 0 1 3.0E-02 0 0
CUI: C0020676
Disease: Hypothyroidism
Hypothyroidism 		25 0 1 3.0E-02 0 0