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: C0557874
Disease: Global developmental delay
Global developmental delay 		1825 553 103 5.5E-02 4 7.1E-03
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		2165 0 103 4.7E-02 0 0
CUI: C0036572
Disease: Seizures
Seizures 		2152 553 97 4.4E-02 6 1.1E-02
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		955 164 92 9.1E-02 3 1.7E-02
CUI: C0027651
Disease: Neoplasms
Neoplasms 		10161 0 86 8.4E-03 0 0
CUI: C0004134
Disease: Ataxia
Ataxia 		868 68 80 8.6E-02 1 1.2E-02
CUI: C0026838
Disease: Muscle Spasticity
Muscle Spasticity 		580 48 78 0.12 4 6.9E-02
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		560 192 73 0.12 1 4.9E-03
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		6776 0 72 1.1E-02 0 0
CUI: C4553743
Disease: Spasticity, CTCAE
Spasticity, CTCAE 		477 0 71 0.13 0 0
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		6941 0 70 1.0E-02 0 0
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		8621 0 70 8.1E-03 0 0
CUI: C0028738
Disease: Nystagmus
Nystagmus 		833 95 70 7.7E-02 5 4.8E-02
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		8221 0 68 8.2E-03 0 0
CUI: C0025958
Disease: Microcephaly
Microcephaly 		1064 0 66 5.8E-02 0 0
CUI: C0040822
Disease: Tremor
Tremor 		528 0 66 0.11 0 0
CUI: C1963184
Disease: Nystagmus, CTCAE 3.0
Nystagmus, CTCAE 3.0 		779 0 66 7.7E-02 0 0
CUI: C4554036
Disease: Nystagmus, CTCAE 5.0
Nystagmus, CTCAE 5.0 		779 0 66 7.7E-02 0 0
CUI: C0013336
Disease: Dwarfism
Dwarfism 		1261 0 59 4.4E-02 0 0
CUI: C0029124
Disease: Optic Atrophy
Optic Atrophy 		568 51 59 9.0E-02 1 1.6E-02
CUI: C0349588
Disease: Short stature
Short stature 		1127 292 58 4.8E-02 1 3.3E-03
CUI: C0013362
Disease: Dysarthria
Dysarthria 		487 54 57 9.9E-02 5 7.9E-02
CUI: C0338656
Disease: Impaired cognition
Impaired cognition 		1630 348 57 3.3E-02 1 2.8E-03
CUI: C0232466
Disease: Feeding difficulties
Feeding difficulties 		473 62 56 1.0E-01 2 2.7E-02
CUI: C2919142
Disease: Short Stature, CTCAE
Short Stature, CTCAE 		1010 0 56 5.1E-02 0 0