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: C1861536
Disease: Blepharo-cheilo-dontic syndrome
Blepharo-cheilo-dontic syndrome
2 0 2 0.20 0 0
MITOCHONDRIAL MYOPATHY AND SIDEROBLASTIC ANEMIA
3 0 2 0.18 0 0
CUI: C0521736
Disease: Lower eyelid ectropion
Lower eyelid ectropion
4 0 2 0.17 0 0
CUI: C4324304
Disease: MLASA syndrome
MLASA syndrome
4 0 2 0.17 0 0
CUI: C1835228
Disease: Predominantly lower limb lymphedema
Predominantly lower limb lymphedema
6 0 2 0.14 0 0
CUI: C0238261
Disease: Lymphedema praecox
Lymphedema praecox
9 0 2 0.12 0 0
CUI: C1303001
Disease: Congenital euryblepharon
Congenital euryblepharon
9 0 2 0.12 0 0
CUI: C0024214
Disease: Lymphangiectasis
Lymphangiectasis
11 0 2 0.11 0 0
CUI: C0027645
Disease: Neoplasm Seeding
Neoplasm Seeding
1 0 1 1.0E-01 0 0
Pappenheimer body (morphologic abnormality)
1 0 1 1.0E-01 0 0
CUI: C1704424
Disease: Hereditary lymphedema type II
Hereditary lymphedema type II
1 0 1 1.0E-01 0 0
CUI: C1835253
Disease: Hyperkeratosis over edematous areas
Hyperkeratosis over edematous areas
1 0 1 1.0E-01 0 0
CUI: C1850644
Disease: Anterior bowing of long bones
Anterior bowing of long bones
1 0 1 1.0E-01 0 0
CUI: C1866933
Disease: Structural brain abnormalities
Structural brain abnormalities
1 0 1 1.0E-01 0 0
Lymphedema-Distichiasis Syndrome with Renal Disease and Diabetes Mellitus
1 0 1 1.0E-01 0 0
Pappenheimer Body Count (lab procedure)
1 0 1 1.0E-01 0 0
MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 2
1 0 1 1.0E-01 0 0
CUI: C3550331
Disease: Aged leonine appearance
Aged leonine appearance
1 0 1 1.0E-01 0 0
CUI: C3550336
Disease: Multiple rows of eyelashes
Multiple rows of eyelashes
1 0 1 1.0E-01 0 0
CUI: C4021393
Disease: Spinalarachnoid cyst
Spinalarachnoid cyst
1 0 1 1.0E-01 0 0
CUI: C4021969
Disease: Abnormally straight spine
Abnormally straight spine
1 0 1 1.0E-01 0 0
CUI: C4022727
Disease: Stellate iris
Stellate iris
1 1 1 1.0E-01 1 0.50
CUI: C4025034
Disease: Abnormality of femoral epiphysis
Abnormality of femoral epiphysis
1 0 1 1.0E-01 0 0
CUI: C4025570
Disease: Hypoplasia of lymphatic vessels
Hypoplasia of lymphatic vessels
1 0 1 1.0E-01 0 0
Abnormality of male external genitalia
1 0 1 1.0E-01 0 0