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: C0266574
Disease: Ablepharon
Ablepharon
20 0 1 3.4E-02 0 0
CUI: C1860224
Disease: ABLEPHARON-MACROSTOMIA SYNDROME
ABLEPHARON-MACROSTOMIA SYNDROME
41 0 1 2.0E-02 0 0
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior
910 0 3 3.3E-03 0 0
CUI: C4021520
Disease: Abnormal cerebral artery morphology
Abnormal cerebral artery morphology
3 1 1 8.3E-02 1 0.50
CUI: C4011556
Disease: Abnormal eyebrow morphology
Abnormal eyebrow morphology
29 0 1 2.6E-02 0 0
CUI: C4023721
Disease: Abnormal hair pattern
Abnormal hair pattern
15 0 1 4.2E-02 0 0
CUI: C4023397
Disease: Abnormal hair quantity
Abnormal hair quantity
29 0 2 5.4E-02 0 0
CUI: C4025252
Disease: Abnormal nasal morphology
Abnormal nasal morphology
34 0 1 2.3E-02 0 0
CUI: C4023573
Disease: Abnormal number of permanent teeth
Abnormal number of permanent teeth
9 0 1 5.6E-02 0 0
CUI: C1260926
Disease: Abnormal pigmentation
Abnormal pigmentation
58 0 1 1.5E-02 0 0
CUI: C3665386
Disease: Abnormal vision
Abnormal vision
115 6 1 8.1E-03 1 0.14
CUI: C4025845
Disease: Abnormality iris morphology
Abnormality iris morphology
27 0 1 2.8E-02 0 0
CUI: C1859363
Disease: Abnormality of dental eruption
Abnormality of dental eruption
10 0 1 5.3E-02 0 0
CUI: C3550704
Disease: Abnormality of digit
Abnormality of digit
9 0 1 5.6E-02 0 0
CUI: C4021611
Disease: Abnormality of epiphysis morphology
Abnormality of epiphysis morphology
86 0 1 1.1E-02 0 0
Abnormality of female external genitalia
15 0 1 4.2E-02 0 0
CUI: C4025034
Disease: Abnormality of femoral epiphysis
Abnormality of femoral epiphysis
1 0 1 1.0E-01 0 0
Abnormality of immune system physiology
42 0 1 2.0E-02 0 0
CUI: C1387925
Disease: Abnormality of limbs
Abnormality of limbs
8 0 1 5.9E-02 0 0
Abnormality of male external genitalia
1 0 1 1.0E-01 0 0
Abnormality of metabolism/homeostasis
171 0 1 5.6E-03 0 0
CUI: C4073245
Disease: Abnormality of neck blood vessel
Abnormality of neck blood vessel
5 2 1 7.1E-02 1 0.33
Abnormality of pelvic girdle bone morphology
55 0 1 1.6E-02 0 0
CUI: C4021664
Disease: Abnormality of the abdominal wall
Abnormality of the abdominal wall
17 0 1 3.8E-02 0 0
CUI: C1852464
Disease: Abnormality of the cervical spine
Abnormality of the cervical spine
12 4 1 4.8E-02 1 0.20