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: C0000731
Disease: Abdomen distended
Abdomen distended 		6 6 1 1.5E-02 1 1.1E-02
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		237 350 15 5.3E-02 2 4.6E-03
CUI: C0001623
Disease: Adrenal gland hypofunction
Adrenal gland hypofunction 		2 2 1 1.6E-02 1 1.2E-02
CUI: C0001916
Disease: Albinism
Albinism 		4 18 2 3.1E-02 2 2.0E-02
CUI: C0002418
Disease: Amblyopia
Amblyopia 		17 22 4 5.3E-02 6 6.1E-02
CUI: C0003076
Disease: Aniridia
Aniridia 		2 14 2 3.2E-02 1 1.0E-02
CUI: C0003119
Disease: Anophthalmos
Anophthalmos 		3 0 1 1.6E-02 0 0
CUI: C0003467
Disease: Anxiety
Anxiety 		13 20 2 2.7E-02 3 3.0E-02
CUI: C0003578
Disease: Apnea
Apnea 		7 0 1 1.5E-02 0 0
CUI: C0003706
Disease: Arachnodactyly
Arachnodactyly 		0 24 0 0 1 9.4E-03
CUI: C0003862
Disease: Arthralgia
Arthralgia 		12 11 3 4.2E-02 2 2.2E-02
CUI: C0003886
Disease: Arthrogryposis
Arthrogryposis 		16 0 1 1.3E-02 0 0
CUI: C0004106
Disease: Astigmatism
Astigmatism 		15 14 1 1.3E-02 1 1.0E-02
CUI: C0004114
Disease: Astrocytoma
Astrocytoma 		5 0 1 1.5E-02 0 0
CUI: C0004134
Disease: Ataxia
Ataxia 		14 17 4 5.6E-02 4 4.2E-02
CUI: C0004158
Disease: Athetosis
Athetosis 		0 3 0 0 1 1.2E-02
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		54 69 4 3.6E-02 2 1.3E-02
CUI: C0005744
Disease: Blepharophimosis
Blepharophimosis 		8 0 1 1.4E-02 0 0
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		37 49 5 5.3E-02 6 4.8E-02
CUI: C0005754
Disease: Congenital blindness
Congenital blindness 		2 0 1 1.6E-02 0 0
CUI: C0006118
Disease: Brain Neoplasms
Brain Neoplasms 		13 0 1 1.4E-02 0 0
CUI: C0006157
Disease: Breech Presentation
Breech Presentation 		10 11 5 7.5E-02 5 5.6E-02
CUI: C0006625
Disease: Cachexia
Cachexia 		2 2 1 1.6E-02 1 1.2E-02
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		43 0 1 9.6E-03 0 0
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		29 468 1 1.1E-02 1 1.8E-03