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: C0233771
Disease: Macropsia
Macropsia 		6 0 1 1.0E-01 0 0
CUI: C1836852
Disease: Curvilinear intracellular accumulation of autofluorescent lipopigment storage material
Curvilinear intracellular accumulation of autofluorescent lipopigment storage material 		6 0 4 0.57 0 0
CUI: C1850442
Disease: CEROID LIPOFUSCINOSIS, NEURONAL, 5
CEROID LIPOFUSCINOSIS, NEURONAL, 5 		6 0 1 1.0E-01 0 0
CUI: C1876161
Disease: CEROID LIPOFUSCINOSIS, NEURONAL, 2
CEROID LIPOFUSCINOSIS, NEURONAL, 2 		6 0 2 0.22 0 0
CUI: C3273225
Disease: Hereditary Neurodegenerative Disorder
Hereditary Neurodegenerative Disorder 		6 0 1 1.0E-01 0 0
CUI: C3489704
Disease: Vision Disability
Vision Disability 		6 0 1 1.0E-01 0 0
CUI: C4015286
Disease: MACULAR DEGENERATION, EARLY-ONSET
MACULAR DEGENERATION, EARLY-ONSET 		6 0 1 1.0E-01 0 0
CUI: C4025609
Disease: EMG: axonal abnormality
EMG: axonal abnormality 		6 0 1 1.0E-01 0 0
CUI: C4476759
Disease: Stooped posture
Stooped posture 		6 0 1 1.0E-01 0 0
CUI: C0423083
Disease: Hypermetric saccades
Hypermetric saccades 		7 0 1 9.1E-02 0 0
CUI: C4476705
Disease: Upgaze palsy
Upgaze palsy 		7 0 1 9.1E-02 0 0
CUI: C0026613
Disease: Motor Skills Disorders
Motor Skills Disorders 		8 0 1 8.3E-02 0 0
CUI: C1836855
Disease: Vacuolated lymphocytes
Vacuolated lymphocytes 		8 0 1 8.3E-02 0 0
CUI: C1851400
Disease: Facial Hypertrichosis
Facial Hypertrichosis 		8 0 1 8.3E-02 0 0
CUI: C1853406
Disease: Difficulty in tongue movements
Difficulty in tongue movements 		8 0 1 8.3E-02 0 0
CUI: C2674737
Disease: Abnormality of finger
Abnormality of finger 		8 0 1 8.3E-02 0 0
CUI: C3805040
Disease: Phospholipidosis
Phospholipidosis 		8 0 1 8.3E-02 0 0
CUI: C4025728
Disease: Increased neuronal autofluorescent lipopigment
Increased neuronal autofluorescent lipopigment 		8 0 4 0.44 0 0
CUI: C4317149
Disease: Vacuolated Lymphocyte Count
Vacuolated Lymphocyte Count 		8 0 1 8.3E-02 0 0
CUI: C0085637
Disease: Oculogyric crisis
Oculogyric crisis 		9 0 1 7.7E-02 0 0
CUI: C1846017
Disease: Progressive pes cavus
Progressive pes cavus 		9 0 1 7.7E-02 0 0
CUI: C1858479
Disease: Spastic paraplegia 11, autosomal recessive
Spastic paraplegia 11, autosomal recessive 		9 0 1 7.7E-02 0 0
CUI: C1866282
Disease: CEROID LIPOFUSCINOSIS, NEURONAL, 6
CEROID LIPOFUSCINOSIS, NEURONAL, 6 		9 0 1 7.7E-02 0 0
CUI: C2748610
Disease: Progressive extrapyramidal movement disorder
Progressive extrapyramidal movement disorder 		9 0 1 7.7E-02 0 0
CUI: C4024710
Disease: Cerebellar cortical atrophy
Cerebellar cortical atrophy 		9 0 1 7.7E-02 0 0