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: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		8621 1641 230 2.6E-02 1 6.1E-04
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		8221 1374 226 2.7E-02 1 7.3E-04
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon 		2969 688 124 3.9E-02 1 1.4E-03
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		967 579 45 3.7E-02 1 1.7E-03
CUI: C0036572
Disease: Seizures
Seizures 		2152 553 114 4.9E-02 2 3.6E-03
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		1825 553 77 3.8E-02 1 1.8E-03
CUI: C0699790
Disease: Colon Carcinoma
Colon Carcinoma 		2832 275 122 4.1E-02 1 3.6E-03
CUI: C0023530
Disease: Leukopenia
Leukopenia 		440 153 35 5.0E-02 1 6.3E-03
CUI: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia 		441 120 31 4.4E-02 1 8.0E-03
CUI: C0040034
Disease: Thrombocytopenia
Thrombocytopenia 		592 110 40 4.7E-02 1 8.7E-03
CUI: C0520679
Disease: Sleep Apnea, Obstructive
Sleep Apnea, Obstructive 		480 105 58 8.1E-02 1 9.1E-03
CUI: C0027947
Disease: Neutropenia
Neutropenia 		389 97 37 5.7E-02 1 9.8E-03
CUI: C0038379
Disease: Strabismus
Strabismus 		716 89 17 1.7E-02 1 1.1E-02
CUI: C0740279
Disease: Cerebellar atrophy
Cerebellar atrophy 		321 67 12 2.0E-02 1 1.4E-02
CUI: C0009952
Disease: Febrile Convulsions
Febrile Convulsions 		192 65 11 2.3E-02 1 1.4E-02
CUI: C0011991
Disease: Diarrhea
Diarrhea 		632 63 76 8.9E-02 1 1.5E-02
CUI: C0009806
Disease: Constipation
Constipation 		424 57 40 5.9E-02 1 1.6E-02
CUI: C0268575
Disease: Isovaleryl-CoA dehydrogenase deficiency
Isovaleryl-CoA dehydrogenase deficiency 		22 55 2 6.3E-03 1 1.7E-02
CUI: C0013362
Disease: Dysarthria
Dysarthria 		487 54 10 1.3E-02 1 1.7E-02
CUI: C0018621
Disease: Hay fever
Hay fever 		114 42 15 3.8E-02 1 2.1E-02
CUI: C0016202
Disease: Flatfoot
Flatfoot 		285 38 12 2.1E-02 1 2.3E-02
CUI: C0494475
Disease: Tonic - clonic seizures
Tonic - clonic seizures 		300 32 25 4.4E-02 1 2.7E-02
CUI: C1837142
Disease: Poor suck
Poor suck 		103 31 4 1.0E-02 1 2.8E-02
CUI: C0002418
Disease: Amblyopia
Amblyopia 		85 29 4 1.1E-02 1 2.9E-02
CUI: C0020490
Disease: Hyperopia
Hyperopia 		142 29 3 6.9E-03 1 2.9E-02