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: C0027651
Disease: Neoplasms
Neoplasms 		10161 0 172 1.7E-02 0 0
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		2165 0 169 7.6E-02 0 0
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		1825 0 155 8.1E-02 0 0
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		8621 0 154 1.8E-02 0 0
CUI: C0013336
Disease: Dwarfism
Dwarfism 		1261 0 150 0.11 0 0
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		8221 0 149 1.8E-02 0 0
CUI: C0349588
Disease: Short stature
Short stature 		1127 0 137 0.11 0 0
CUI: C0010417
Disease: Cryptorchidism
Cryptorchidism 		725 0 136 0.17 0 0
CUI: C2919142
Disease: Short Stature, CTCAE
Short Stature, CTCAE 		1010 0 136 0.12 0 0
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		6941 0 133 1.9E-02 0 0
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		6776 0 130 1.9E-02 0 0
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified 		850 0 129 0.13 0 0
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		590 0 123 0.18 0 0
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		6243 0 120 1.9E-02 0 0
CUI: C0025990
Disease: Micrognathism
Micrognathism 		586 0 116 0.16 0 0
CUI: C0025958
Disease: Microcephaly
Microcephaly 		1064 0 114 9.6E-02 0 0
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		5473 0 113 2.0E-02 0 0
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis 		6385 0 113 1.7E-02 0 0
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion 		6626 0 110 1.6E-02 0 0
CUI: C0038379
Disease: Strabismus
Strabismus 		716 0 109 0.13 0 0
CUI: C0678230
Disease: Congenital Epicanthus
Congenital Epicanthus 		417 0 105 0.19 0 0
CUI: C0019294
Disease: Hernia, Inguinal
Hernia, Inguinal 		225 0 102 0.28 0 0
CUI: C0008925
Disease: Cleft Palate
Cleft Palate 		611 0 101 0.14 0 0
CUI: C0036572
Disease: Seizures
Seizures 		2152 0 99 4.3E-02 0 0
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		967 0 97 8.8E-02 0 0