Associated Disease N. genes N. variants N. of shared genes JI g p-value g N. of shared variants JI v p-value v
Congenital Disorder Of Glycosylation, Type IIF
1 0 1 1.00 0 0
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIf, MODIFIER OF
1 0 1 1.00 0 0
CUI: C4023146
Disease: Abnormal platelet granules
Abnormal platelet granules
4 0 1 0.25 0 0
CUI: C0151701
Disease: Pulmonary hemorrhage
Pulmonary hemorrhage
5 0 1 0.20 0 0
CUI: C0475713
Disease: Perinatal pulmonary hemorrhage
Perinatal pulmonary hemorrhage
5 0 1 0.20 0 0
Congenital disorder of glycosylation type 1q
9 0 1 0.11 0 0
CUI: C0030442
Disease: Progressive bulbar palsy
Progressive bulbar palsy
10 0 1 1.0E-01 0 0
Giant platelet (morphologic abnormality)
10 0 1 1.0E-01 0 0
CUI: C2697501
Disease: Giant Platelet Count (procedure)
Giant Platelet Count (procedure)
10 0 1 1.0E-01 0 0
CUI: C4023026
Disease: Abnormal megakaryocyte morphology
Abnormal megakaryocyte morphology
10 0 1 1.0E-01 0 0
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
12 0 1 8.3E-02 0 0
CUI: C0854107
Disease: Subcutaneous hemorrhage
Subcutaneous hemorrhage
16 0 1 6.2E-02 0 0
CUI: C0270764
Disease: Motor Neuron Disease, Lower
Motor Neuron Disease, Lower
23 0 1 4.3E-02 0 0
CUI: C0152115
Disease: Lingual-Facial-Buccal Dyskinesia
Lingual-Facial-Buccal Dyskinesia
26 0 1 3.8E-02 0 0
CUI: C2931826
Disease: Potassium aggravated myotonia
Potassium aggravated myotonia
27 0 1 3.7E-02 0 0
CUI: C0030360
Disease: Papillon-Lefevre Disease
Papillon-Lefevre Disease
29 0 1 3.4E-02 0 0
CUI: C2751260
Disease: Macrothrombocytopenia
Macrothrombocytopenia
34 0 1 2.9E-02 0 0
CUI: C0003028
Disease: Anhidrosis
Anhidrosis
37 0 1 2.7E-02 0 0
CUI: C0007642
Disease: Cellulitis
Cellulitis
38 0 1 2.6E-02 0 0
CUI: C0151529
Disease: Prolonged bleeding time
Prolonged bleeding time
39 0 1 2.6E-02 0 0
CUI: C1837402
Disease: Flat occiput
Flat occiput
45 0 1 2.2E-02 0 0
CUI: C1609524
Disease: ADHF
ADHF
46 0 1 2.2E-02 0 0
CUI: C0019080
Disease: Hemorrhage
Hemorrhage
47 0 1 2.1E-02 0 0
CUI: C0857175
Disease: Postinfarction
Postinfarction
49 0 1 2.0E-02 0 0
CUI: C0700292
Disease: Hypoxemia
Hypoxemia
52 0 1 1.9E-02 0 0