Source: ALL
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: C4049796
Disease: Abnormality of cardiovascular system morphology
Abnormality of cardiovascular system morphology 		198 0 1 5.0E-03 0 0
CUI: C4703439
Disease: Abnormality of fundus pigmentation
Abnormality of fundus pigmentation 		14 0 1 6.2E-02 0 0
CUI: C1862475
Disease: Abnormality of retinal pigmentation
Abnormality of retinal pigmentation 		215 0 1 4.6E-03 0 0
CUI: C4021785
Disease: Abnormality of the metacarpal bones
Abnormality of the metacarpal bones 		40 0 1 2.4E-02 0 0
CUI: C4021818
Disease: Abnormality of the ovary
Abnormality of the ovary 		8 0 1 1.0E-01 0 0
CUI: C0278134
Disease: Absence of sensation
Absence of sensation 		111 0 1 8.8E-03 0 0
CUI: C0268425
Disease: Alstrom Syndrome
Alstrom Syndrome 		12 0 1 7.1E-02 0 0
CUI: C0266215
Disease: Anorectal atresia
Anorectal atresia 		4 0 1 0.17 0 0
CUI: C3495676
Disease: Anorectal Malformations
Anorectal Malformations 		112 0 1 8.8E-03 0 0
CUI: C1840077
Disease: Anteverted nostril
Anteverted nostril 		407 0 1 2.4E-03 0 0
CUI: C0003466
Disease: Anus, Imperforate
Anus, Imperforate 		139 0 1 7.1E-03 0 0
CUI: C1855675
Disease: Arima syndrome
Arima syndrome 		11 0 1 7.7E-02 0 0
CUI: C0004096
Disease: Asthma
Asthma 		2096 0 1 4.8E-04 0 0
CUI: C0004106
Disease: Astigmatism
Astigmatism 		148 0 1 6.7E-03 0 0
CUI: C0004134
Disease: Ataxia
Ataxia 		868 0 1 1.1E-03 0 0
CUI: C1321884
Disease: Atresia of vagina
Atresia of vagina 		16 0 2 0.12 0 0
CUI: C0018817
Disease: Atrial Septal Defects
Atrial Septal Defects 		384 0 1 2.6E-03 0 0
CUI: C4021786
Disease: Atypical scarring of skin
Atypical scarring of skin 		101 0 1 9.7E-03 0 0
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome 		86 0 3 3.5E-02 0 0
CUI: C2936862
Disease: Bardet-Biedl syndrome 1 (disorder)
Bardet-Biedl syndrome 1 (disorder) 		20 0 3 0.15 0 0
CUI: C4016908
Disease: BARDET-BIEDL SYNDROME 2/6, DIGENIC
BARDET-BIEDL SYNDROME 2/6, DIGENIC 		2 0 1 0.25 0 0
CUI: C1859564
Disease: Bardet-Biedl syndrome 3
Bardet-Biedl syndrome 3 		3 7 1 0.20 1 0.11
CUI: C1858054
Disease: BARDET-BIEDL SYNDROME 6
BARDET-BIEDL SYNDROME 6 		1 0 1 0.33 0 0
CUI: C0549613
Disease: Biliary tract abnormality
Biliary tract abnormality 		14 0 1 6.2E-02 0 0
CUI: C0456909
Disease: Blindness
Blindness 		393 0 1 2.5E-03 0 0