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: C0398641
Disease: Epstein syndrome (disorder)
Epstein syndrome (disorder)
1 0 1 1.00 0 0
CUI: C0403445
Disease: Fechtner syndrome (disorder)
Fechtner syndrome (disorder)
1 0 1 1.00 0 0
MACROTHROMBOCYTOPENIA AND PROGRESSIVE SENSORINEURAL DEAFNESS
1 0 1 1.00 0 0
Giant Platelet Syndrome with Thrombocytopenia
1 0 1 1.00 0 0
Cochleosaccular degeneration of the inner ear and progressive cataracts
1 0 1 1.00 0 0
CUI: C1863659
Disease: DEAFNESS, AUTOSOMAL DOMINANT 17
DEAFNESS, AUTOSOMAL DOMINANT 17
1 0 1 1.00 0 0
Deafness, autosomal dominant nonsyndromic sensorineural 17
1 0 1 1.00 0 0
CUI: C4021547
Disease: Neutrophil inclusion bodies
Neutrophil inclusion bodies
1 0 1 1.00 0 0
CUI: C4022866
Disease: Abnormal platelet shape
Abnormal platelet shape
1 0 1 1.00 0 0
CUI: C4280711
Disease: Leukocyte inclusion bodies
Leukocyte inclusion bodies
1 0 1 1.00 0 0
CUI: C0277792
Disease: Pathognomonic sign
Pathognomonic sign
2 0 1 0.50 0 0
CUI: C1275236
Disease: Fibroma of tendon sheath
Fibroma of tendon sheath
2 0 1 0.50 0 0
CUI: C2931861
Disease: Hemorrhagic hereditary nephritis
Hemorrhagic hereditary nephritis
2 0 1 0.50 0 0
Extramedullary hematopoiesis of spleen
3 0 1 0.33 0 0
CUI: C0477317
Disease: Other primary thrombocytopenia
Other primary thrombocytopenia
3 0 1 0.33 0 0
CUI: C0155778
Disease: Varicose veins of lower extremity
Varicose veins of lower extremity
4 0 1 0.25 0 0
CUI: C1567743
Disease: Alport Syndrome, Autosomal Dominant
Alport Syndrome, Autosomal Dominant
5 0 1 0.20 0 0
End stage renal disease due to hypertension
5 0 1 0.20 0 0
CUI: C0848765
Disease: Hearing disability
Hearing disability
6 0 1 0.17 0 0
CUI: C0854078
Disease: Diabetic end stage renal disease
Diabetic end stage renal disease
7 0 1 0.14 0 0
CUI: C1865871
Disease: HEMANGIOMA, CAPILLARY INFANTILE
HEMANGIOMA, CAPILLARY INFANTILE
7 0 1 0.14 0 0
CUI: C0154971
Disease: Presenile cataract
Presenile cataract
8 0 1 0.12 0 0
Alport Syndrome, Autosomal Recessive
8 0 1 0.12 0 0
CUI: C0027706
Disease: Hereditary nephritis
Hereditary nephritis
9 0 1 0.11 0 0
CUI: C0333497
Disease: Segmental glomerulosclerosis
Segmental glomerulosclerosis
9 0 1 0.11 0 0