Associated Disease N. genes N. variants N. of shared genes JI g p-value g N. of shared variants JI v p-value v
3 beta-Hydroxysteroid dehydrogenase deficiency
9 0 1 5.0E-02 0 0
CUI: C0000737
Disease: Abdominal Pain
Abdominal Pain
302 0 2 6.4E-03 0 0
CUI: C4022924
Disease: Abnormal eye physiology
Abnormal eye physiology
6 0 1 5.9E-02 0 0
Abnormal internal carotid artery morphology
7 0 1 5.6E-02 0 0
CUI: C1260926
Disease: Abnormal pigmentation
Abnormal pigmentation
58 0 1 1.4E-02 0 0
CUI: C0035300
Disease: Abnormal retinal morphology
Abnormal retinal morphology
13 0 1 4.2E-02 0 0
CUI: C0522214
Disease: Abnormal visual evoked potential
Abnormal visual evoked potential
55 0 1 1.5E-02 0 0
CUI: C4024172
Disease: Abnormality of hair pigmentation
Abnormality of hair pigmentation
5 0 1 6.2E-02 0 0
Abnormality of metabolism/homeostasis
171 0 1 5.5E-03 0 0
Abnormality of nervous system physiology
6 0 1 5.9E-02 0 0
CUI: C1862475
Disease: Abnormality of retinal pigmentation
Abnormality of retinal pigmentation
215 0 1 4.4E-03 0 0
CUI: C4316870
Disease: Abnormality of the eye
Abnormality of the eye
56 0 1 1.5E-02 0 0
Abnormality of the hypothalamus-pituitary axis
70 0 1 1.2E-02 0 0
CUI: C4316788
Disease: Abnormality of the intestine
Abnormality of the intestine
19 0 1 3.3E-02 0 0
CUI: C4021780
Disease: Abnormality of the liver
Abnormality of the liver
75 0 2 2.4E-02 0 0
CUI: C0029131
Disease: Abnormality of the optic nerve
Abnormality of the optic nerve
18 0 1 3.4E-02 0 0
CUI: C4025751
Disease: Abnormality of the pancreas
Abnormality of the pancreas
13 0 1 4.2E-02 0 0
CUI: C2673954
Disease: Absent skin pigmentation
Absent skin pigmentation
1 0 1 8.3E-02 0 0
CUI: C0262977
Disease: Achromia of skin
Achromia of skin
7 0 1 5.6E-02 0 0
CUI: C2936664
Disease: Acquired Hypogammaglobulinemia
Acquired Hypogammaglobulinemia
89 0 1 1.0E-02 0 0
CUI: C0022602
Disease: Actinic keratosis
Actinic keratosis
136 0 1 6.8E-03 0 0
Acute and subacute liver necrosis (disorder)
6 0 1 5.9E-02 0 0
CUI: C0742343
Disease: Acute Chest Syndrome
Acute Chest Syndrome
405 0 1 2.4E-03 0 0
CUI: C0546126
Disease: Acute Confusional Senile Dementia
Acute Confusional Senile Dementia
99 0 2 1.8E-02 0 0
CUI: C1313983
Disease: Acute contagious conjunctivitis
Acute contagious conjunctivitis
1 0 1 8.3E-02 0 0