Associated Disease N. genes N. variants N. of shared genes JI g p-value g N. of shared variants JI v p-value v
MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2
1 0 1 0.50 0 0
PAROXYSMAL NOCTURNAL HEMOGLOBINURIA 1
1 0 1 0.50 0 0
MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 3
1 0 1 0.50 0 0
PAROXYSMAL NOCTURNAL HEMOGLOBINURIA 2
1 0 1 0.50 0 0
CUI: C4751570
Disease: Ferro-cerebro-cutaneous syndrome
Ferro-cerebro-cutaneous syndrome
1 0 1 0.50 0 0
SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 2 (disorder)
2 0 1 0.33 0 0
CUI: C1504438
Disease: Cerebral artery stenosis
Cerebral artery stenosis
3 0 1 0.25 0 0
CUI: C0019050
Disease: Hemoglobinuria, Paroxysmal
Hemoglobinuria, Paroxysmal
9 0 2 0.22 0 0
CUI: C1859495
Disease: Episodic hemolytic anemia
Episodic hemolytic anemia
4 0 1 0.20 0 0
CUI: C0598226
Disease: Harlequin type ichthyosis
Harlequin type ichthyosis
5 0 1 0.17 0 0
CUI: C2676767
Disease: CD59 Deficiency
CD59 Deficiency
5 0 1 0.17 0 0
CUI: C4022891
Disease: Elevated hepatic iron concentration
Elevated hepatic iron concentration
5 0 1 0.17 0 0
CUI: C0746495
Disease: Recurrent meningitis
Recurrent meningitis
6 0 1 0.14 0 0
Birth length greater than 97th percentile
6 0 1 0.14 0 0
CUI: C1855331
Disease: Olfactory lobe agenesis
Olfactory lobe agenesis
7 0 1 0.12 0 0
CUI: C4024905
Disease: Abnormality of the pons
Abnormality of the pons
7 0 1 0.12 0 0
CUI: C0019048
Disease: Hemoglobinuria
Hemoglobinuria
8 0 1 0.11 0 0
CUI: C0684516
Disease: Benign bone neoplasm
Benign bone neoplasm
8 0 1 0.11 0 0
CUI: C0270855
Disease: Early myoclonic encephalopathy
Early myoclonic encephalopathy
10 0 1 9.1E-02 0 0
CUI: C0521618
Disease: Stenosis of ureter
Stenosis of ureter
10 0 1 9.1E-02 0 0
CUI: C0151746
Disease: Abnormal renal function
Abnormal renal function
12 0 1 7.7E-02 0 0
CUI: C0178416
Disease: Hypoplastic anemia
Hypoplastic anemia
12 0 1 7.7E-02 0 0
CUI: C0343065
Disease: Dermatographic urticaria
Dermatographic urticaria
12 0 1 7.7E-02 0 0
CUI: C3887590
Disease: Stricture of ureter
Stricture of ureter
12 0 1 7.7E-02 0 0
CUI: C1273957
Disease: Upper limb spasticity
Upper limb spasticity
14 0 1 6.7E-02 0 0