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: C0013336
Disease: Dwarfism
Dwarfism 		1261 0 9 7.1E-03 0 0
CUI: C0027651
Disease: Neoplasms
Neoplasms 		10161 0 9 8.9E-04 0 0
CUI: C0086437
Disease: Joint laxity
Joint laxity 		224 15 9 4.0E-02 1 6.2E-02
CUI: C0349588
Disease: Short stature
Short stature 		1127 0 9 8.0E-03 0 0
CUI: C0025990
Disease: Micrognathism
Micrognathism 		586 53 8 1.4E-02 1 1.9E-02
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified 		850 135 8 9.4E-03 1 7.4E-03
CUI: C0240635
Disease: Byzanthine arch palate
Byzanthine arch palate 		497 0 8 1.6E-02 0 0
CUI: C2919142
Disease: Short Stature, CTCAE
Short Stature, CTCAE 		1010 0 8 7.9E-03 0 0
CUI: C3553764
Disease: Joint hyperflexibility
Joint hyperflexibility 		181 0 8 4.3E-02 0 0
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		8621 0 7 8.1E-04 0 0
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		590 77 7 1.2E-02 1 1.3E-02
CUI: C0029456
Disease: Osteoporosis
Osteoporosis 		1098 0 7 6.4E-03 0 0
CUI: C0221357
Disease: Brachydactyly
Brachydactyly 		325 43 7 2.1E-02 1 2.3E-02
CUI: C0239234
Disease: Low set ears
Low set ears 		489 64 7 1.4E-02 1 1.5E-02
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		8221 0 7 8.5E-04 0 0
CUI: C1837770
Disease: Sparse hair
Sparse hair 		112 0 7 6.0E-02 0 0
CUI: C1839829
Disease: Short distal phalanx of finger
Short distal phalanx of finger 		85 0 7 7.9E-02 0 0
CUI: C1849367
Disease: Nasal bridge wide
Nasal bridge wide 		429 29 7 1.6E-02 1 3.3E-02
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		6941 0 6 8.6E-04 0 0
CUI: C0009081
Disease: Congenital clubfoot
Congenital clubfoot 		285 44 6 2.1E-02 2 4.5E-02
CUI: C0010278
Disease: Craniosynostosis
Craniosynostosis 		488 0 6 1.2E-02 0 0
CUI: C0018817
Disease: Atrial Septal Defects
Atrial Septal Defects 		384 96 6 1.5E-02 1 1.0E-02
CUI: C0022821
Disease: Kyphosis deformity of spine
Kyphosis deformity of spine 		305 0 6 1.9E-02 0 0
CUI: C0027092
Disease: Myopia
Myopia 		490 0 6 1.2E-02 0 0
CUI: C0029453
Disease: Osteopenia
Osteopenia 		845 0 6 7.1E-03 0 0