Associated Disease N. genes N. variants N. of shared genes JI g p-value g N. of shared variants JI v p-value v
Pointed proximal second through fifth metacarpals
2 0 1 0.17 0 0
Decreased beta-galactosidase activity
2 0 1 0.17 0 0
CUI: C0002985
Disease: Angiokeratoma
Angiokeratoma
3 0 1 0.14 0 0
CUI: C1846798
Disease: Cervical subluxation
Cervical subluxation
3 0 1 0.14 0 0
CUI: C4023060
Disease: Keratan sulfate excretion in urine
Keratan sulfate excretion in urine
3 0 1 0.14 0 0
CUI: C1846442
Disease: Hypoplastic acetabulae
Hypoplastic acetabulae
4 0 1 0.12 0 0
CUI: C1854780
Disease: Flaring of rib cage
Flaring of rib cage
4 0 1 0.12 0 0
CUI: C1856599
Disease: Beaking of vertebral bodies
Beaking of vertebral bodies
13 0 2 0.12 0 0
CUI: C1857697
Disease: Lip telangiectasia
Lip telangiectasia
4 0 1 0.12 0 0
CUI: C0036489
Disease: Sea-Blue Histiocyte Syndrome
Sea-Blue Histiocyte Syndrome
5 0 1 0.11 0 0
CUI: C4281786
Disease: Presence of foam cells
Presence of foam cells
5 0 1 0.11 0 0
CUI: C0038018
Disease: Spondylolysis
Spondylolysis
6 0 1 1.0E-01 0 0
CUI: C0149645
Disease: Cervical myelopathy
Cervical myelopathy
6 0 1 1.0E-01 0 0
CUI: C0344955
Disease: Ventricular septal hypertrophy
Ventricular septal hypertrophy
6 0 1 1.0E-01 0 0
CUI: C0426820
Disease: Thick rib
Thick rib
6 0 1 1.0E-01 0 0
CUI: C1859682
Disease: Hypoplastic frontal sinuses
Hypoplastic frontal sinuses
7 0 1 9.1E-02 0 0
CUI: C0014848
Disease: Esophageal Achalasia
Esophageal Achalasia
8 0 1 8.3E-02 0 0
Abnormality of amino acid metabolism
8 0 1 8.3E-02 0 0
CUI: C1846433
Disease: Prominent sternum
Prominent sternum
8 0 1 8.3E-02 0 0
Distal sensory impairment of all modalities
9 0 1 7.7E-02 0 0
CUI: C2216370
Disease: Cherry red spot of the macula
Cherry red spot of the macula
9 0 1 7.7E-02 0 0
Cardiomyopathy, Hypertrophic, Familial
24 332 2 7.4E-02 2 4.3E-03
CUI: C0162819
Disease: Skin Diseases, Vascular
Skin Diseases, Vascular
10 0 1 7.1E-02 0 0
CUI: C0006384
Disease: Bundle-Branch Block
Bundle-Branch Block
11 0 1 6.7E-02 0 0
CUI: C0038016
Disease: Spondylolisthesis
Spondylolisthesis
11 0 1 6.7E-02 0 0