Source: ALL
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: C0406702
Disease: Ectodermal Dysplasia, Hypohidrotic, Autosomal Recessive
Ectodermal Dysplasia, Hypohidrotic, Autosomal Recessive 		4 0 1 0.17 0 0
CUI: C4025867
Disease: Abnormality of the forehead
Abnormality of the forehead 		4 0 1 0.17 0 0
CUI: C1281931
Disease: Obstruction of nasolacrimal duct
Obstruction of nasolacrimal duct 		12 0 2 0.15 0 0
CUI: C1852464
Disease: Abnormality of the cervical spine
Abnormality of the cervical spine 		12 0 2 0.15 0 0
CUI: C1844605
Disease: Periorbital wrinkles
Periorbital wrinkles 		5 0 1 0.14 0 0
CUI: C1844606
Disease: Periorbital hyperpigmentation
Periorbital hyperpigmentation 		5 0 1 0.14 0 0
CUI: C0558920
Disease: Lump on thigh
Lump on thigh 		6 0 1 0.12 0 0
CUI: C0795940
Disease: Filippi syndrome
Filippi syndrome 		6 0 1 0.12 0 0
CUI: C0866588
Disease: lupus erythematodes
lupus erythematodes 		6 0 1 0.12 0 0
CUI: C0948976
Disease: Leukemic infiltration of skin
Leukemic infiltration of skin 		6 0 1 0.12 0 0
CUI: C2861614
Disease: AML M5b
AML M5b 		6 0 1 0.12 0 0
CUI: C1835807
Disease: Prominent fingertip pads
Prominent fingertip pads 		16 0 2 0.12 0 0
CUI: C1856119
Disease: Low hanging columella
Low hanging columella 		17 0 2 0.11 0 0
CUI: C1857126
Disease: Parietal bossing
Parietal bossing 		7 0 1 0.11 0 0
CUI: C0751466
Disease: Phonophobia
Phonophobia 		18 0 2 0.11 0 0
CUI: C0024454
Disease: Maffucci Syndrome
Maffucci Syndrome 		8 0 1 1.0E-01 0 0
CUI: C0575897
Disease: Thumb deformity
Thumb deformity 		8 0 1 1.0E-01 0 0
CUI: C1858539
Disease: Shawl scrotum
Shawl scrotum 		19 0 2 1.0E-01 0 0
CUI: C1865841
Disease: Flared iliac wings
Flared iliac wings 		19 0 2 1.0E-01 0 0
CUI: C2674219
Disease: SPHEROCYTOSIS, HEREDITARY, 2
SPHEROCYTOSIS, HEREDITARY, 2 		8 0 1 1.0E-01 0 0
CUI: C1868598
Disease: PARIETAL FORAMINA
PARIETAL FORAMINA 		20 0 2 9.5E-02 0 0
CUI: C4021539
Disease: Posterior helix pit
Posterior helix pit 		9 0 1 9.1E-02 0 0
CUI: C1865027
Disease: Hypoplastic iliac wing
Hypoplastic iliac wing 		22 0 2 8.7E-02 0 0
CUI: C0279746
Disease: Adenocarcinoma of salivary gland
Adenocarcinoma of salivary gland 		10 0 1 8.3E-02 0 0
CUI: C1442965
Disease: Avascular necrosis of the capital femoral epiphysis
Avascular necrosis of the capital femoral epiphysis 		23 0 2 8.3E-02 0 0