Associated Disease N. genes N. variants N. of shared genes JI g p-value g N. of shared variants JI v p-value v
SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 2 (disorder)
0 3 0 0 1 6.2E-02
MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2
0 10 0 0 1 4.3E-02
CUI: C4551493
Disease: Situs inversus totalis
Situs inversus totalis
104 0 1 1.6E-03 0 0
CUI: C0554970
Disease: Pallor of optic disc
Pallor of optic disc
98 0 1 1.6E-03 0 0
CUI: C4024818
Disease: Progressive night blindness
Progressive night blindness
87 0 1 1.6E-03 0 0
CUI: C1847584
Disease: Distal sensory impairment
Distal sensory impairment
86 0 1 1.6E-03 0 0
CUI: C0220981
Disease: Metabolic acidosis
Metabolic acidosis
85 0 1 1.6E-03 0 0
Respiratory insufficiency due to muscle weakness
85 0 1 1.6E-03 0 0
CUI: C0009763
Disease: Conjunctivitis
Conjunctivitis
82 0 1 1.6E-03 0 0
Purpura, Thrombotic Thrombocytopenic
80 0 1 1.6E-03 0 0
CUI: C0600031
Disease: Congenital absence of spleen
Congenital absence of spleen
80 0 1 1.6E-03 0 0
CUI: C0024282
Disease: Lymphocytosis
Lymphocytosis
78 0 1 1.6E-03 0 0
CUI: C0424551
Disease: Impaired exercise tolerance
Impaired exercise tolerance
76 0 1 1.6E-03 0 0
CUI: C2132198
Disease: Abnormal blistering of the skin
Abnormal blistering of the skin
75 0 1 1.6E-03 0 0
CUI: C4048270
Disease: Decreased antibody level in blood
Decreased antibody level in blood
75 0 1 1.6E-03 0 0
CUI: C0086565
Disease: Liver Dysfunction
Liver Dysfunction
73 0 1 1.6E-03 0 0
CUI: C0034068
Disease: Pulmonary Eosinophilia
Pulmonary Eosinophilia
70 0 1 1.7E-03 0 0
CUI: C1883018
Disease: Severe Aplastic Anemia
Severe Aplastic Anemia
70 0 1 1.7E-03 0 0
CUI: C0020678
Disease: Hypotrichosis
Hypotrichosis
69 0 1 1.7E-03 0 0
CUI: C0022521
Disease: Kartagener Syndrome
Kartagener Syndrome
67 0 1 1.7E-03 0 0
CUI: C0017919
Disease: Glycogen Storage Disease
Glycogen Storage Disease
63 0 1 1.7E-03 0 0
CUI: C0221373
Disease: Claw hand
Claw hand
63 0 1 1.7E-03 0 0
CUI: C0279014
Disease: Childhood Germ Cell Tumor
Childhood Germ Cell Tumor
62 0 1 1.7E-03 0 0
CUI: C0340076
Disease: Asthmatic pulmonary eosinophilia
Asthmatic pulmonary eosinophilia
62 0 1 1.7E-03 0 0
CUI: C0919677
Disease: Protein C measurement
Protein C measurement
62 0 1 1.7E-03 0 0