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: C0268274
Disease: Gangliosidoses, GM2
Gangliosidoses, GM2 		18 5 9 0.26 3 2.3E-02
CUI: C0036161
Disease: Sandhoff Disease
Sandhoff Disease 		21 48 9 0.24 1 5.7E-03
CUI: C1848922
Disease: Hexosaminidase alpha-Subunit Deficiency (Variant B)
Hexosaminidase alpha-Subunit Deficiency (Variant B) 		4 0 4 0.15 0 0
CUI: C2749283
Disease: Gm2-Gangliosidosis, Variant B1
Gm2-Gangliosidosis, Variant B1 		4 0 4 0.15 0 0
CUI: C0268275
Disease: Tay-Sachs Disease, AB Variant
Tay-Sachs Disease, AB Variant 		5 7 4 0.15 1 7.4E-03
CUI: C0017083
Disease: Gangliosidoses
Gangliosidoses 		6 2 4 0.14 2 1.6E-02
CUI: C2216370
Disease: Cherry red spot of the macula
Cherry red spot of the macula 		9 15 4 0.13 14 0.11
CUI: C0030442
Disease: Progressive bulbar palsy
Progressive bulbar palsy 		10 0 4 0.12 0 0
CUI: C1334680
Disease: Mediastinal seminoma
Mediastinal seminoma 		3 0 3 0.12 0 0
CUI: C0334518
Disease: Polyembryoma
Polyembryoma 		4 0 3 0.11 0 0
CUI: C4011788
Disease: Behavioral variant of frontotemporal dementia
Behavioral variant of frontotemporal dementia 		35 0 6 0.11 0 0
CUI: C0154671
Disease: Degenerative brain disorder
Degenerative brain disorder 		16 0 4 0.11 0 0
CUI: C1514225
Disease: Poorly Differentiated Neuroblastoma
Poorly Differentiated Neuroblastoma 		6 0 3 0.10 0 0
CUI: C1859062
Disease: LONG QT SYNDROME 3
LONG QT SYNDROME 3 		7 0 3 1.0E-01 0 0
CUI: C1866174
Disease: Phosphoglycerate Dehydrogenase Deficiency
Phosphoglycerate Dehydrogenase Deficiency 		7 0 3 1.0E-01 0 0
CUI: C0154682
Disease: Lateral Sclerosis
Lateral Sclerosis 		19 0 4 9.8E-02 0 0
CUI: C4324721
Disease: Radiologically isolated syndrome
Radiologically isolated syndrome 		8 0 3 9.7E-02 0 0
CUI: C0265345
Disease: Lymphedema distichiasis syndrome
Lymphedema distichiasis syndrome 		9 0 3 9.4E-02 0 0
CUI: C0266360
Disease: Streak gonad
Streak gonad 		9 0 3 9.4E-02 0 0
CUI: C0009730
Disease: Spinal meningocele
Spinal meningocele 		10 0 3 9.1E-02 0 0
CUI: C1335903
Disease: Mucoepidermoid carcinoma of salivary gland
Mucoepidermoid carcinoma of salivary gland 		10 0 3 9.1E-02 0 0
CUI: C0023521
Disease: Globoid cell leukodystrophy
Globoid cell leukodystrophy 		35 0 5 8.9E-02 0 0
CUI: C0025299
Disease: Meningocele
Meningocele 		11 0 3 8.8E-02 0 0
CUI: C1856565
Disease: Progressive psychomotor deterioration
Progressive psychomotor deterioration 		11 0 3 8.8E-02 0 0
CUI: C0149645
Disease: Cervical myelopathy
Cervical myelopathy 		12 0 3 8.6E-02 0 0