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: C0239831
Disease: Hand muscle weakness
Hand muscle weakness
14 1 2 7.1E-03 1 0.33
Cerebellar ataxia associated with quadrupedal gait
1 1 1 3.7E-03 1 0.33
CUI: C0037926
Disease: Compression of spinal cord
Compression of spinal cord
60 2 9 2.8E-02 1 0.25
CUI: C0556280
Disease: Gross motor impairment
Gross motor impairment
22 2 1 3.4E-03 1 0.25
CUI: C1832597
Disease: Herniation of intervertebral nuclei
Herniation of intervertebral nuclei
3 2 1 3.7E-03 1 0.25
CUI: C3711370
Disease: Spastic Paraplegia Type 7
Spastic Paraplegia Type 7
5 2 1 3.6E-03 1 0.25
CUI: C1849156
Disease: Spastic Ataxia
Spastic Ataxia
28 3 1 3.4E-03 1 0.20
CUI: C1867864
Disease: Poor fine motor coordination
Poor fine motor coordination
31 3 4 1.3E-02 1 0.20
ATAXIA, SPASTIC, CHILDHOOD-ONSET, AUTOSOMAL RECESSIVE, WITH OPTIC ATROPHY AND MENTAL RETARDATION
3 3 1 3.7E-03 1 0.20
CUI: C4025573
Disease: Increased muscle fatiguability
Increased muscle fatiguability
9 3 1 3.6E-03 1 0.20
CUI: C0040962
Disease: Tricuspid Valve Prolapse
Tricuspid Valve Prolapse
13 4 3 1.1E-02 1 0.17
CUI: C1854699
Disease: Diffuse cerebellar atrophy
Diffuse cerebellar atrophy
17 4 1 3.5E-03 1 0.17
CUI: C0040961
Disease: Tricuspid Valve Insufficiency
Tricuspid Valve Insufficiency
60 5 9 2.8E-02 1 0.14
CUI: C0238651
Disease: Ankle clonus
Ankle clonus
32 5 2 6.6E-03 1 0.14
CUI: C0018536
Disease: Hallux Valgus
Hallux Valgus
61 6 2 6.1E-03 1 0.12
CUI: C0152459
Disease: Linear atrophy
Linear atrophy
149 6 12 2.9E-02 1 0.12
CUI: C1854489
Disease: Limb dysmetria
Limb dysmetria
16 6 1 3.5E-03 1 0.12
CUI: C0234979
Disease: Dysdiadochokinesis
Dysdiadochokinesis
49 7 2 6.3E-03 1 0.11
CUI: C0265610
Disease: Clinodactyly of fingers
Clinodactyly of fingers
160 7 23 5.6E-02 1 0.11
CUI: C0026034
Disease: Microstomia
Microstomia
172 9 16 3.7E-02 1 9.1E-02
CUI: C0026266
Disease: Mitral Valve Insufficiency
Mitral Valve Insufficiency
94 11 19 5.5E-02 1 7.7E-02
CUI: C0029131
Disease: Abnormality of the optic nerve
Abnormality of the optic nerve
18 11 3 1.0E-02 1 7.7E-02
CUI: C1136179
Disease: Hammer Toe
Hammer Toe
46 11 4 1.3E-02 1 7.7E-02
CUI: C4021866
Disease: obsolete Abnormal heart morphology
obsolete Abnormal heart morphology
12 13 1 3.5E-03 1 6.7E-02
CUI: C4551583
Disease: Cerebral cortical atrophy
Cerebral cortical atrophy
271 13 27 5.2E-02 1 6.7E-02