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 5 2.1E-02 0 0
CUI: C0001807
Disease: Aggressive behavior
Aggressive behavior 		13 18 1 5.6E-02 1 3.6E-02
CUI: C0002418
Disease: Amblyopia
Amblyopia 		17 0 1 4.5E-02 0 0
CUI: C0002940
Disease: Aneurysm
Aneurysm 		12 0 1 5.9E-02 0 0
CUI: C0003079
Disease: Anisocoria
Anisocoria 		4 0 1 0.11 0 0
CUI: C0003486
Disease: Aortic Aneurysm
Aortic Aneurysm 		1 2 1 0.17 1 8.3E-02
CUI: C0003499
Disease: Supravalvular aortic stenosis
Supravalvular aortic stenosis 		3 0 1 0.12 0 0
CUI: C0003504
Disease: Aortic Valve Insufficiency
Aortic Valve Insufficiency 		2 2 1 0.14 1 8.3E-02
CUI: C0003706
Disease: Arachnodactyly
Arachnodactyly 		9 24 1 7.1E-02 2 6.1E-02
CUI: C0004045
Disease: Asphyxia Neonatorum
Asphyxia Neonatorum 		4 0 1 0.11 0 0
CUI: C0004106
Disease: Astigmatism
Astigmatism 		15 0 2 0.11 0 0
CUI: C0004114
Disease: Astrocytoma
Astrocytoma 		5 0 1 1.0E-01 0 0
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		54 69 2 3.4E-02 1 1.3E-02
CUI: C0005744
Disease: Blepharophimosis
Blepharophimosis 		8 15 1 7.7E-02 1 4.0E-02
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		37 49 4 0.10 3 5.3E-02
CUI: C0006009
Disease: Borderline intellectual disability
Borderline intellectual disability 		3 0 1 0.12 0 0
CUI: C0006118
Disease: Brain Neoplasms
Brain Neoplasms 		13 0 1 5.6E-02 0 0
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		29 468 1 2.9E-02 1 2.1E-03
CUI: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia 		44 0 1 2.0E-02 0 0
CUI: C0007789
Disease: Cerebral Palsy
Cerebral Palsy 		15 0 1 5.0E-02 0 0
CUI: C0008924
Disease: Cleft upper lip
Cleft upper lip 		5 0 1 1.0E-01 0 0
CUI: C0009081
Disease: Congenital clubfoot
Congenital clubfoot 		26 0 1 3.2E-02 0 0
CUI: C0009363
Disease: Congenital ocular coloboma (disorder)
Congenital ocular coloboma (disorder) 		11 0 1 6.2E-02 0 0
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms 		31 0 1 2.8E-02 0 0
CUI: C0009782
Disease: Connective Tissue Diseases
Connective Tissue Diseases 		10 0 1 6.7E-02 0 0