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: C2748652
Disease: Large face
Large face 		11 0 1 8.3E-02 0 0
CUI: C0265294
Disease: Pyle metaphyseal dysplasia
Pyle metaphyseal dysplasia 		25 0 2 8.0E-02 0 0
CUI: C0265289
Disease: Metaphyseal chondrodysplasia Schmid type
Metaphyseal chondrodysplasia Schmid type 		12 0 1 7.7E-02 0 0
CUI: C1834124
Disease: Shield chest
Shield chest 		12 0 1 7.7E-02 0 0
CUI: C1841684
Disease: Delayed ossification of carpal bones
Delayed ossification of carpal bones 		12 0 1 7.7E-02 0 0
CUI: C1850171
Disease: Neonatal short-limb short stature
Neonatal short-limb short stature 		12 0 1 7.7E-02 0 0
CUI: C0221277
Disease: Atypical lymphocyte
Atypical lymphocyte 		13 0 1 7.1E-02 0 0
CUI: C0239801
Disease: Blonde hair
Blonde hair 		13 0 1 7.1E-02 0 0
CUI: C1837082
Disease: Metaphyseal cupping
Metaphyseal cupping 		13 0 1 7.1E-02 0 0
CUI: C4025751
Disease: Abnormality of the pancreas
Abnormality of the pancreas 		13 0 1 7.1E-02 0 0
CUI: C0334082
Disease: NEVUS, EPIDERMAL (disorder)
NEVUS, EPIDERMAL (disorder) 		14 0 1 6.7E-02 0 0
CUI: C1504412
Disease: Testotoxicosis
Testotoxicosis 		14 0 1 6.7E-02 0 0
CUI: C1835473
Disease: Diaphyseal thickening
Diaphyseal thickening 		14 0 1 6.7E-02 0 0
CUI: C1842714
Disease: Desquamation of skin soon after birth
Desquamation of skin soon after birth 		14 0 1 6.7E-02 0 0
CUI: C1274233
Disease: T-lymphocyte immunodeficiency
T-lymphocyte immunodeficiency 		15 0 1 6.2E-02 0 0
CUI: C1846803
Disease: Small epiphyses
Small epiphyses 		15 0 1 6.2E-02 0 0
CUI: C0342538
Disease: Constitutional delay of growth and puberty
Constitutional delay of growth and puberty 		16 0 1 5.9E-02 0 0
CUI: C1861218
Disease: Hypoplastic ilia
Hypoplastic ilia 		16 0 1 5.9E-02 0 0
CUI: C1849221
Disease: Fair hair
Fair hair 		17 0 1 5.6E-02 0 0
CUI: C0265290
Disease: Metaphyseal chondrodysplasia
Metaphyseal chondrodysplasia 		20 0 1 4.8E-02 0 0
CUI: C0744483
Disease: growth hormone treatment
growth hormone treatment 		20 0 1 4.8E-02 0 0
CUI: C1859480
Disease: Cone-shaped epiphyses of the phalanges of the hand
Cone-shaped epiphyses of the phalanges of the hand 		20 0 1 4.8E-02 0 0
CUI: C3899503
Disease: Congenital hypogonadotropic hypogonadism
Congenital hypogonadotropic hypogonadism 		23 0 1 4.2E-02 0 0
CUI: C0220748
Disease: Cartilage-hair hypoplasia
Cartilage-hair hypoplasia 		49 77 2 4.1E-02 15 0.19
CUI: C4021789
Disease: Abnormality of the vertebral column
Abnormality of the vertebral column 		24 0 1 4.0E-02 0 0