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: C2931134
Disease: Cutis laxa, recessive
Cutis laxa, recessive
3 0 1 0.33 0 0
CUI: C0264353
Disease: Bronchomalacia
Bronchomalacia
10 0 1 1.0E-01 0 0
CUI: C0037301
Disease: Skin Wrinkling
Skin Wrinkling
12 1 1 8.3E-02 1 1.0E-01
CUI: C3665335
Disease: Cutis laxa, autosomal recessive
Cutis laxa, autosomal recessive
17 0 1 5.9E-02 0 0
CUI: C0156273
Disease: Bladder Diverticulum
Bladder Diverticulum
18 0 1 5.6E-02 0 0
CUI: C0151205
Disease: Periorbital edema
Periorbital edema
22 0 1 4.5E-02 0 0
CUI: C4553313
Disease: Periorbital Edema, CTCAE
Periorbital Edema, CTCAE
22 0 1 4.5E-02 0 0
CUI: C0019322
Disease: Umbilical hernia
Umbilical hernia
27 17 1 3.7E-02 1 3.8E-02
CUI: C0948187
Disease: Tracheomalacia
Tracheomalacia
30 0 1 3.3E-02 0 0
CUI: C0546964
Disease: Genu recurvatum
Genu recurvatum
32 4 1 3.1E-02 1 7.7E-02
CUI: C0158288
Disease: Spinal stenosis of lumbar region
Spinal stenosis of lumbar region
34 0 1 2.9E-02 0 0
CUI: C0238397
Disease: Pulmonary artery stenosis
Pulmonary artery stenosis
36 0 1 2.8E-02 0 0
CUI: C0027643
Disease: Neoplasm Recurrence, Local
Neoplasm Recurrence, Local
39 0 1 2.6E-02 0 0
CUI: C0240421
Disease: Progressive muscle weakness
Progressive muscle weakness
44 0 1 2.3E-02 0 0
CUI: C0034888
Disease: Rectal Prolapse
Rectal Prolapse
46 0 1 2.2E-02 0 0
CUI: C1843057
Disease: Calf muscle hypertrophy
Calf muscle hypertrophy
46 0 1 2.2E-02 0 0
CUI: C0036420
Disease: Localized scleroderma
Localized scleroderma
51 0 1 2.0E-02 0 0
CUI: C1840069
Disease: Sandal gap
Sandal gap
62 0 1 1.6E-02 0 0
CUI: C0264303
Disease: Laryngomalacia
Laryngomalacia
67 0 1 1.5E-02 0 0
Pathological accumulation of air in tissues
69 0 1 1.4E-02 0 0
CUI: C0010495
Disease: Cutis Laxa
Cutis Laxa
70 0 1 1.4E-02 0 0
CUI: C0016522
Disease: Foramen Ovale, Patent
Foramen Ovale, Patent
73 0 1 1.4E-02 0 0
CUI: C1518922
Disease: peak expiratory flow (procedure)
peak expiratory flow (procedure)
74 0 1 1.4E-02 0 0
CUI: C0334588
Disease: Giant Cell Glioblastoma
Giant Cell Glioblastoma
95 0 1 1.1E-02 0 0
CUI: C0221629
Disease: Proximal muscle weakness
Proximal muscle weakness
112 0 1 8.9E-03 0 0