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: C1969084
Disease: Pontocerebellar Hypoplasia Type 6
Pontocerebellar Hypoplasia Type 6 		5 0 4 0.80 0 0
CUI: C3809008
Disease: HYPOMYELINATION WITH BRAINSTEM AND SPINAL CORD INVOLVEMENT AND LEG SPASTICITY
HYPOMYELINATION WITH BRAINSTEM AND SPINAL CORD INVOLVEMENT AND LEG SPASTICITY 		2 0 2 0.50 0 0
CUI: C0748903
Disease: spinal cord involvement
spinal cord involvement 		9 0 3 0.30 0 0
CUI: C4015323
Disease: LEUKODYSTROPHY, HYPOMYELINATING, 9
LEUKODYSTROPHY, HYPOMYELINATING, 9 		1 0 1 0.25 0 0
CUI: C4755254
Disease: Hypomyelination with brain stem and spinal cord involvement and leg spasticity
Hypomyelination with brain stem and spinal cord involvement and leg spasticity 		1 0 1 0.25 0 0
CUI: C0851445
Disease: Haematopoietic neoplasms (excl leukaemias and lymphomas)
Haematopoietic neoplasms (excl leukaemias and lymphomas) 		2 0 1 0.20 0 0
CUI: C1719306
Disease: Refractory cytopenia with multilineage dysplasia (RCMD)
Refractory cytopenia with multilineage dysplasia (RCMD) 		2 0 1 0.20 0 0
CUI: C1969722
Disease: Impaired pursuit initiation and maintenance
Impaired pursuit initiation and maintenance 		2 0 1 0.20 0 0
CUI: C4023376
Disease: Abnormality of the dorsal column of the spinal cord
Abnormality of the dorsal column of the spinal cord 		2 0 1 0.20 0 0
CUI: C0007933
Disease: Meibomian Cyst
Meibomian Cyst 		3 0 1 0.17 0 0
CUI: C4024928
Disease: Absent smooth pursuit
Absent smooth pursuit 		3 0 1 0.17 0 0
CUI: C4324406
Disease: Cerebral volume loss
Cerebral volume loss 		3 0 1 0.17 0 0
CUI: C1268964
Disease: Myelodysplastic syndrome, no ICD-O subtype
Myelodysplastic syndrome, no ICD-O subtype 		4 0 1 0.14 0 0
CUI: C3278204
Disease: Dysmyelinating leukodystrophy
Dysmyelinating leukodystrophy 		4 0 1 0.14 0 0
CUI: C0272024
Disease: Secondary acquired sideroblastic anemia
Secondary acquired sideroblastic anemia 		6 0 1 0.11 0 0
CUI: C4025609
Disease: EMG: axonal abnormality
EMG: axonal abnormality 		6 4 1 0.11 2 9.5E-02
CUI: C1850055
Disease: PEHO syndrome
PEHO syndrome 		7 0 1 1.0E-01 0 0
CUI: C4021585
Disease: Impaired distal proprioception
Impaired distal proprioception 		7 0 1 1.0E-01 0 0
CUI: C1859520
Disease: Progressive spasticity
Progressive spasticity 		19 0 2 9.5E-02 0 0
CUI: C2748610
Disease: Progressive extrapyramidal movement disorder
Progressive extrapyramidal movement disorder 		9 0 1 8.3E-02 0 0
CUI: C1836843
Disease: Progressive inability to walk
Progressive inability to walk 		10 0 1 7.7E-02 0 0
CUI: C1836904
Disease: Spastic/hyperactive bladder
Spastic/hyperactive bladder 		10 0 1 7.7E-02 0 0
CUI: C1843504
Disease: Pontocerebellar Hypoplasia Type 1
Pontocerebellar Hypoplasia Type 1 		10 0 1 7.7E-02 0 0
CUI: C0280745
Disease: secondary myelodysplastic syndromes
secondary myelodysplastic syndromes 		11 0 1 7.1E-02 0 0
CUI: C0796466
Disease: Refractory cytopenia with multilineage dysplasia
Refractory cytopenia with multilineage dysplasia 		11 0 1 7.1E-02 0 0