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: C0004096
Disease: Asthma
Asthma 		2096 1536 5 2.4E-03 1 6.4E-04
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		251 350 2 7.5E-03 1 2.7E-03
CUI: C0349588
Disease: Short stature
Short stature 		1127 292 9 7.9E-03 1 3.2E-03
CUI: C0027092
Disease: Myopia
Myopia 		490 167 4 8.0E-03 1 5.4E-03
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified 		850 135 8 9.3E-03 1 6.5E-03
CUI: C0011334
Disease: Dental caries
Dental caries 		330 126 2 5.8E-03 1 6.9E-03
CUI: C0040034
Disease: Thrombocytopenia
Thrombocytopenia 		592 110 1 1.6E-03 1 7.8E-03
CUI: C0018681
Disease: Headache
Headache 		338 75 1 2.8E-03 1 1.1E-02
CUI: C0009806
Disease: Constipation
Constipation 		424 57 3 6.8E-03 1 1.3E-02
CUI: C0456070
Disease: Growth delay
Growth delay 		244 40 1 3.8E-03 1 1.7E-02
CUI: C0235991
Disease: Small for gestational age (disorder)
Small for gestational age (disorder) 		181 34 2 1.0E-02 1 1.9E-02
CUI: C0018965
Disease: Hematuria
Hematuria 		235 31 2 8.0E-03 1 2.0E-02
CUI: C2745959
Disease: Spondyloepiphyseal dysplasia, congenita
Spondyloepiphyseal dysplasia, congenita 		15 30 2 6.7E-02 4 8.9E-02
CUI: C2020284
Disease: Stickler syndrome, type 1
Stickler syndrome, type 1 		28 27 1 2.3E-02 3 7.0E-02
CUI: C0265289
Disease: Metaphyseal chondrodysplasia Schmid type
Metaphyseal chondrodysplasia Schmid type 		12 16 2 7.4E-02 1 2.9E-02
CUI: C0030312
Disease: Pancytopenia
Pancytopenia 		253 15 1 3.7E-03 1 3.0E-02
CUI: C0220685
Disease: Achondrogenesis type 2
Achondrogenesis type 2 		3 14 1 5.3E-02 3 1.0E-01
CUI: C0541764
Disease: Delayed bone age
Delayed bone age 		295 14 7 2.3E-02 1 3.1E-02
CUI: C0272170
Disease: Shwachman syndrome
Shwachman syndrome 		49 13 1 1.5E-02 1 3.2E-02
CUI: C1690006
Disease: Lattice corneal dystrophy Type I
Lattice corneal dystrophy Type I 		11 13 1 3.7E-02 1 3.2E-02
CUI: C4025790
Disease: Specific learning disability
Specific learning disability 		165 13 1 5.5E-03 1 3.2E-02
CUI: C0023234
Disease: Legg-Calve-Perthes Disease
Legg-Calve-Perthes Disease 		36 9 2 3.9E-02 3 0.12
CUI: C1836080
Disease: Stickler Syndrome, Type I, Nonsyndromic Ocular
Stickler Syndrome, Type I, Nonsyndromic Ocular 		1 9 1 5.9E-02 3 0.12
CUI: C0796173
Disease: Spondyloperipheral dysplasia short ulna
Spondyloperipheral dysplasia short ulna 		2 8 1 5.6E-02 4 0.17
CUI: C0265279
Disease: Kniest dysplasia
Kniest dysplasia 		4 6 1 5.0E-02 3 0.14