Associated Disease N. genes N. variants N. of shared genes JI g p-value g N. of shared variants JI v p-value v
Mental Retardation, Short Stature, Facial Anomalies, and Joint Dislocations
2 0 1 0.17 0 0
CUI: C4280575
Disease: Progressive brain disease
Progressive brain disease
2 0 1 0.17 0 0
CUI: C0041952
Disease: Ureterolithiasis
Ureterolithiasis
3 0 1 0.14 0 0
CUI: C1838571
Disease: Ceroid Lipofuscinosis, Neuronal, 7
Ceroid Lipofuscinosis, Neuronal, 7
3 0 2 0.33 0 0
Rectilinear intracellular accumulation of autofluorescent lipopigment storage material
3 0 1 0.14 0 0
Abnormal nervous system electrophysiology
3 0 1 0.14 0 0
Fingerprint intracellular accumulation of autofluorescent lipopigment storage material
5 0 1 0.11 0 0
CUI: C1838570
Disease: CEROID LIPOFUSCINOSIS, NEURONAL, 8
CEROID LIPOFUSCINOSIS, NEURONAL, 8
5 43 2 0.25 2 4.7E-02
CUI: C0751354
Disease: Myoclonus, Action
Myoclonus, Action
6 0 1 1.0E-01 0 0
Curvilinear intracellular accumulation of autofluorescent lipopigment storage material
6 0 2 0.22 0 0
CUI: C1850442
Disease: CEROID LIPOFUSCINOSIS, NEURONAL, 5
CEROID LIPOFUSCINOSIS, NEURONAL, 5
6 0 2 0.22 0 0
CUI: C1876161
Disease: CEROID LIPOFUSCINOSIS, NEURONAL, 2
CEROID LIPOFUSCINOSIS, NEURONAL, 2
6 0 1 1.0E-01 0 0
Increased neuronal autofluorescent lipopigment
8 0 2 0.18 0 0
CUI: C1866282
Disease: CEROID LIPOFUSCINOSIS, NEURONAL, 6
CEROID LIPOFUSCINOSIS, NEURONAL, 6
9 0 2 0.17 0 0
CUI: C0543874
Disease: Apraxia, oculomotor, Cogan type
Apraxia, oculomotor, Cogan type
10 0 1 7.1E-02 0 0
CUI: C1847164
Disease: Morning myoclonic jerks
Morning myoclonic jerks
11 0 1 6.7E-02 0 0
Progressive psychomotor deterioration
11 0 1 6.7E-02 0 0
CUI: C0334609
Disease: Hemangioblastic Meningioma
Hemangioblastic Meningioma
12 0 1 6.2E-02 0 0
CUI: C0334610
Disease: Hemangiopericytic Meningioma
Hemangiopericytic Meningioma
12 0 1 6.2E-02 0 0
CUI: C0457190
Disease: Xanthomatous Meningioma
Xanthomatous Meningioma
12 0 1 6.2E-02 0 0
CUI: C0751303
Disease: Cerebral Convexity Meningioma
Cerebral Convexity Meningioma
12 0 1 6.2E-02 0 0
CUI: C1334261
Disease: Intraorbital Meningioma
Intraorbital Meningioma
12 0 1 6.2E-02 0 0
CUI: C1335107
Disease: Olfactory Groove Meningioma
Olfactory Groove Meningioma
12 0 1 6.2E-02 0 0
CUI: C1384408
Disease: Microcystic meningioma
Microcystic meningioma
12 0 1 6.2E-02 0 0
CUI: C1527197
Disease: Angioblastic Meningioma
Angioblastic Meningioma
12 0 1 6.2E-02 0 0