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: C1845095
Disease: DEAFNESS, X-LINKED 5 (disorder)
DEAFNESS, X-LINKED 5 (disorder)
1 0 1 1.00 0 0
Leukoencephalopathy With Metaphyseal Chondrodysplasia
1 0 1 1.00 0 0
CUI: C1970887
Disease: Abnormal middle ear reflexes
Abnormal middle ear reflexes
1 0 1 1.00 0 0
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 6
1 0 1 1.00 0 0
CUI: C4021991
Disease: Abnormality of the astrocytes
Abnormality of the astrocytes
1 0 1 1.00 0 0
CUI: C4280736
Disease: Large knee
Large knee
1 0 1 1.00 0 0
CUI: C1836752
Disease: Abnormal speech discrimination
Abnormal speech discrimination
2 0 1 0.50 0 0
CUI: C4225180
Disease: EVEN-PLUS SYNDROME
EVEN-PLUS SYNDROME
2 0 1 0.50 0 0
Autosomal dominant Charcot-Marie-Tooth disease type 2D
2 0 1 0.50 0 0
CUI: C0795910
Disease: COWCHOCK SYNDROME
COWCHOCK SYNDROME
3 0 1 0.33 0 0
CUI: C1838180
Disease: CODAS syndrome
CODAS syndrome
4 0 1 0.25 0 0
Abnormal brainstem MRI signal intensity
5 0 1 0.20 0 0
CUI: C4023607
Disease: Abnormal corpus striatum morphology
Abnormal corpus striatum morphology
5 0 1 0.20 0 0
CUI: C1262037
Disease: Diabetic cystopathy
Diabetic cystopathy
6 0 1 0.17 0 0
X-linked hereditary motor and sensory neuropathy
7 0 1 0.14 0 0
CUI: C1838663
Disease: Enlargement of the wrists
Enlargement of the wrists
8 0 1 0.12 0 0
CUI: C0393907
Disease: Axonal sensorimotor neuropathy
Axonal sensorimotor neuropathy
9 0 1 0.11 0 0
CUI: C0393574
Disease: Huntington Disease, Late Onset
Huntington Disease, Late Onset
12 0 1 8.3E-02 0 0
Akinetic-Rigid Variant of Huntington Disease
12 0 1 8.3E-02 0 0
CUI: C0751208
Disease: Juvenile Huntington Disease
Juvenile Huntington Disease
12 0 1 8.3E-02 0 0
NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE V
12 0 1 8.3E-02 0 0
CUI: C2931276
Disease: Spastic paraplegia 17
Spastic paraplegia 17
12 0 1 8.3E-02 0 0
CUI: C1865384
Disease: Amyotrophy, monomelic
Amyotrophy, monomelic
15 0 1 6.7E-02 0 0
CUI: C0393541
Disease: Distal Spinal Muscular Atrophy
Distal Spinal Muscular Atrophy
16 0 1 6.2E-02 0 0
CUI: C1866021
Disease: Increased connective tissue
Increased connective tissue
16 0 1 6.2E-02 0 0