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: C0345392
Disease: Congenital kyphoscoliosis
Congenital kyphoscoliosis 		151 2 149 0.99 2 1.00
CUI: C0575158
Disease: Kyphoscoliosis deformity of spine
Kyphoscoliosis deformity of spine 		155 17 149 0.96 2 0.12
CUI: C0027651
Disease: Neoplasms
Neoplasms 		10161 0 101 9.9E-03 0 0
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		2165 0 101 4.6E-02 0 0
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		8621 0 94 1.1E-02 0 0
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		8221 0 91 1.1E-02 0 0
CUI: C0013336
Disease: Dwarfism
Dwarfism 		1261 0 88 6.7E-02 0 0
CUI: C0349588
Disease: Short stature
Short stature 		1127 0 85 7.1E-02 0 0
CUI: C2919142
Disease: Short Stature, CTCAE
Short Stature, CTCAE 		1010 0 83 7.7E-02 0 0
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		6941 0 80 1.1E-02 0 0
CUI: C0036572
Disease: Seizures
Seizures 		2152 0 78 3.5E-02 0 0
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		1825 0 77 4.1E-02 0 0
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		6776 0 77 1.1E-02 0 0
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified 		850 0 76 8.2E-02 0 0
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion 		6626 0 75 1.1E-02 0 0
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis 		6385 0 72 1.1E-02 0 0
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		967 0 70 6.7E-02 0 0
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		6243 0 69 1.1E-02 0 0
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		955 0 68 6.6E-02 0 0
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		5473 0 67 1.2E-02 0 0
CUI: C0240635
Disease: Byzanthine arch palate
Byzanthine arch palate 		497 0 67 0.12 0 0
CUI: C1854301
Disease: Motor delay
Motor delay 		384 0 64 0.14 0 0
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		5725 0 63 1.1E-02 0 0
CUI: C0239234
Disease: Low set ears
Low set ears 		489 0 61 0.11 0 0
CUI: C0520947
Disease: Clumsiness - motor delay
Clumsiness - motor delay 		393 0 61 0.13 0 0