Associated Disease N. genes N. variants N. of shared genes JI g p-value g N. of shared variants JI v p-value v
Hereditary cystatin C amyloid angiopathy
3 0 1 0.17 0 0
CUI: C0232513
Disease: Premature tooth loss
Premature tooth loss
25 0 4 0.16 0 0
CUI: C0398593
Disease: Specific granule deficiency
Specific granule deficiency
11 0 2 0.15 0 0
CUI: C0853697
Disease: Neutrophil count decreased
Neutrophil count decreased
4 5 1 0.14 1 3.3E-02
Neutropenia, Severe Congenital, X-Linked
4 0 1 0.14 0 0
GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2
4 0 1 0.14 0 0
Osteosclerosis of the base of the skull
4 0 1 0.14 0 0
Optic atrophy from cranial nerve compression
4 0 1 0.14 0 0
CUI: C4025164
Disease: Cortical sclerosis
Cortical sclerosis
4 0 1 0.14 0 0
CUI: C0031350
Disease: Pharyngitis
Pharyngitis
30 0 4 0.13 0 0
CUI: C0151701
Disease: Pulmonary hemorrhage
Pulmonary hemorrhage
5 0 1 0.12 0 0
CUI: C0242567
Disease: Opsoclonus
Opsoclonus
5 0 1 0.12 0 0
CUI: C0432262
Disease: Dysosteosclerosis
Dysosteosclerosis
5 0 1 0.12 0 0
CUI: C0475713
Disease: Perinatal pulmonary hemorrhage
Perinatal pulmonary hemorrhage
5 0 1 0.12 0 0
CUI: C1837066
Disease: Recurrent viral infection
Recurrent viral infection
32 0 4 0.12 0 0
Suppurative Periapical Periodontitis
6 0 1 0.11 0 0
CUI: C0432593
Disease: Varus angulation
Varus angulation
6 0 1 0.11 0 0
CUI: C2732890
Disease: Necrotizing soft tissue infection
Necrotizing soft tissue infection
6 0 1 0.11 0 0
CUI: C0007642
Disease: Cellulitis
Cellulitis
38 0 4 0.11 0 0
Proximal femoral metaphyseal irregularity
7 0 1 1.0E-01 0 0
CUI: C1850087
Disease: Narrow sacroiliac notch
Narrow sacroiliac notch
7 0 1 1.0E-01 0 0
Erlenmeyer flask deformity of the femurs
7 0 1 1.0E-01 0 0
CUI: C3552526
Disease: Metaphyseal sclerosis
Metaphyseal sclerosis
7 0 1 1.0E-01 0 0
CUI: C4049279
Disease: Post stroke epilepsy
Post stroke epilepsy
7 0 1 1.0E-01 0 0
CUI: C4692625
Disease: SHWACHMAN-DIAMOND SYNDROME 1
SHWACHMAN-DIAMOND SYNDROME 1
7 0 1 1.0E-01 0 0