Source: CLINVAR ×
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: C0268247
Disease: Niemann-Pick Disease, Type D
Niemann-Pick Disease, Type D 		1 1 1 1.00 1 7.2E-03
CUI: C4017105
Disease: NIEMANN-PICK DISEASE, TYPE C1, ADULT FORM
NIEMANN-PICK DISEASE, TYPE C1, ADULT FORM 		1 2 1 1.00 1 7.1E-03
CUI: C4017106
Disease: NIEMANN-PICK DISEASE, TYPE C1, JUVENILE FORM
NIEMANN-PICK DISEASE, TYPE C1, JUVENILE FORM 		1 0 1 1.00 0 0
CUI: C0220756
Disease: Niemann-Pick Disease, Type C
Niemann-Pick Disease, Type C 		2 26 1 0.50 14 9.3E-02
CUI: C0007384
Disease: Cataplexy
Cataplexy 		3 3 1 0.33 2 1.4E-02
CUI: C1843921
Disease: Postural instability
Postural instability 		3 5 1 0.33 2 1.4E-02
CUI: C0264611
Disease: Apraxia of Phonation
Apraxia of Phonation 		10 9 1 1.0E-01 2 1.4E-02
CUI: C0018681
Disease: Headache
Headache 		19 23 1 5.3E-02 2 1.3E-02
CUI: C0338656
Disease: Impaired cognition
Impaired cognition 		26 25 1 3.8E-02 2 1.2E-02
CUI: C0013421
Disease: Dystonia
Dystonia 		42 0 1 2.4E-02 0 0
CUI: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia 		44 58 1 2.3E-02 2 1.0E-02
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		162 240 1 6.2E-03 2 5.3E-03
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		336 579 1 3.0E-03 2 2.8E-03