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: C2936346
Disease: 22q11 Deletion Syndrome
22q11 Deletion Syndrome 		31 0 1 1.9E-02 0 0
CUI: C1860224
Disease: ABLEPHARON-MACROSTOMIA SYNDROME
ABLEPHARON-MACROSTOMIA SYNDROME 		41 0 2 3.3E-02 0 0
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior 		910 0 2 2.2E-03 0 0
CUI: C2132198
Disease: Abnormal blistering of the skin
Abnormal blistering of the skin 		75 0 9 0.10 0 0
CUI: C4025844
Disease: Abnormal chorioretinal morphology
Abnormal chorioretinal morphology 		36 0 1 1.8E-02 0 0
CUI: C4021152
Disease: Abnormal CNS myelination
Abnormal CNS myelination 		9 0 1 3.3E-02 0 0
CUI: C4025847
Disease: Abnormal conjunctiva morphology
Abnormal conjunctiva morphology 		2 0 1 4.3E-02 0 0
CUI: C4011556
Disease: Abnormal eyebrow morphology
Abnormal eyebrow morphology 		29 0 5 0.11 0 0
CUI: C2675111
Disease: Abnormal eyelash morphology
Abnormal eyelash morphology 		39 0 4 7.0E-02 0 0
CUI: C4025109
Disease: Abnormal hand morphology
Abnormal hand morphology 		5 0 1 3.8E-02 0 0
CUI: C4025252
Disease: Abnormal nasal morphology
Abnormal nasal morphology 		34 0 2 3.7E-02 0 0
CUI: C4023573
Disease: Abnormal number of permanent teeth
Abnormal number of permanent teeth 		9 0 1 3.3E-02 0 0
CUI: C1837388
Disease: Abnormal pattern of respiration
Abnormal pattern of respiration 		20 0 4 0.11 0 0
CUI: C4021525
Disease: Abnormal pelvis bone ossification
Abnormal pelvis bone ossification 		7 0 1 3.6E-02 0 0
CUI: C1260926
Disease: Abnormal pigmentation
Abnormal pigmentation 		58 0 3 3.9E-02 0 0
CUI: C1834129
Disease: Abnormal vertebral morphology
Abnormal vertebral morphology 		28 0 1 2.0E-02 0 0
CUI: C1328440
Disease: Abnormality of amino acid metabolism
Abnormality of amino acid metabolism 		8 0 2 7.1E-02 0 0
CUI: C1846821
Disease: Abnormality of coagulation
Abnormality of coagulation 		59 0 4 5.2E-02 0 0
CUI: C4021800
Disease: Abnormality of dental enamel
Abnormality of dental enamel 		96 0 4 3.5E-02 0 0
CUI: C1859363
Disease: Abnormality of dental eruption
Abnormality of dental eruption 		10 0 1 3.2E-02 0 0
CUI: C4021611
Disease: Abnormality of epiphysis morphology
Abnormality of epiphysis morphology 		86 0 1 9.3E-03 0 0
CUI: C4025900
Disease: Abnormality of female internal genitalia
Abnormality of female internal genitalia 		31 0 4 8.2E-02 0 0
CUI: C4023722
Disease: Abnormality of hair texture
Abnormality of hair texture 		15 0 1 2.8E-02 0 0
CUI: C4023616
Disease: Abnormality of immune system physiology
Abnormality of immune system physiology 		42 0 1 1.6E-02 0 0
CUI: C1387925
Disease: Abnormality of limbs
Abnormality of limbs 		8 0 1 3.4E-02 0 0