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: C1836189
Disease: Radial deviation of finger
Radial deviation of finger 		42 0 14 0.10 0 0
CUI: C0556280
Disease: Gross motor impairment
Gross motor impairment 		22 0 12 1.0E-01 0 0
CUI: C1853237
Disease: Isolated cases
Isolated cases 		111 0 20 1.0E-01 0 0
CUI: C1849923
Disease: Generalized hypopigmentation
Generalized hypopigmentation 		23 0 12 9.9E-02 0 0
CUI: C1837404
Disease: High, narrow palate
High, narrow palate 		129 0 21 9.6E-02 0 0
CUI: C0410528
Disease: Skeletal dysplasia
Skeletal dysplasia 		186 0 26 9.6E-02 0 0
CUI: C1836542
Disease: Depressed nasal bridge
Depressed nasal bridge 		426 39 47 9.6E-02 1 2.0E-02
CUI: C0020490
Disease: Hyperopia
Hyperopia 		142 29 22 9.6E-02 1 2.4E-02
CUI: C0426789
Disease: Short thorax
Short thorax 		51 0 14 9.5E-02 0 0
CUI: C3203358
Disease: Hypoventilation
Hypoventilation 		28 0 12 9.5E-02 0 0
CUI: C0426421
Disease: Wide nose
Wide nose 		87 0 17 9.4E-02 0 0
CUI: C0221354
Disease: Frontal bossing
Frontal bossing 		321 22 37 9.4E-02 1 2.9E-02
CUI: C1387005
Disease: Penis agenesis
Penis agenesis 		217 0 28 9.4E-02 0 0
CUI: C1837260
Disease: Prominent forehead
Prominent forehead 		159 25 23 9.3E-02 3 8.6E-02
CUI: C0020608
Disease: Hypodontia
Hypodontia 		218 0 28 9.3E-02 0 0
CUI: C0029422
Disease: Osteochondrodysplasias
Osteochondrodysplasias 		207 0 27 9.3E-02 0 0
CUI: C4020847
Disease: Abnormality of pelvic girdle bone morphology
Abnormality of pelvic girdle bone morphology 		55 5 14 9.3E-02 2 0.12
CUI: C1837142
Disease: Poor suck
Poor suck 		103 31 18 9.2E-02 3 7.3E-02
CUI: C0022821
Disease: Kyphosis deformity of spine
Kyphosis deformity of spine 		305 0 35 9.2E-02 0 0
CUI: C0162298
Disease: Joint stiffness
Joint stiffness 		163 0 23 9.2E-02 0 0
CUI: C0431659
Disease: Hypoplasia of scrotum
Hypoplasia of scrotum 		57 0 14 9.2E-02 0 0
CUI: C1842083
Disease: Abnormality of the ribs
Abnormality of the ribs 		69 0 15 9.1E-02 0 0
CUI: C0016842
Disease: Congenital pectus excavatum
Congenital pectus excavatum 		272 36 32 9.1E-02 1 2.1E-02
CUI: C0343284
Disease: Chondrodysplasia
Chondrodysplasia 		71 0 15 9.0E-02 0 0
CUI: C1853242
Disease: Midface retrusion
Midface retrusion 		228 0 28 9.0E-02 0 0