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: C4225397
Disease: ATAXIA-OCULOMOTOR APRAXIA 4
ATAXIA-OCULOMOTOR APRAXIA 4 		1 5 1 0.50 1 1.0E-01
CUI: C0268134
Disease: DNA Repair-Deficiency
DNA Repair-Deficiency 		2 0 1 0.33 0 0
CUI: C1563696
Disease: DNA Repair-Deficiency Disorders
DNA Repair-Deficiency Disorders 		2 0 1 0.33 0 0
CUI: C3150667
Disease: MICROCEPHALY, SEIZURES, AND DEVELOPMENTAL DELAY
MICROCEPHALY, SEIZURES, AND DEVELOPMENTAL DELAY 		2 10 1 0.33 2 0.14
CUI: C0699734
Disease: Progressive chorea
Progressive chorea 		3 0 1 0.25 0 0
CUI: C0349620
Disease: Pilocytic astrocytoma of cerebellum
Pilocytic astrocytoma of cerebellum 		4 0 1 0.20 0 0
CUI: C1846034
Disease: Euthyroid multinodular goiter
Euthyroid multinodular goiter 		4 0 1 0.20 0 0
CUI: C1854150
Disease: Charcot-Marie-Tooth disease, Type 2B2
Charcot-Marie-Tooth disease, Type 2B2 		5 0 1 0.17 0 0
CUI: C4024613
Disease: Progressive distal muscular atrophy
Progressive distal muscular atrophy 		5 0 1 0.17 0 0
CUI: C1563697
Disease: Chromosome Instability Syndromes
Chromosome Instability Syndromes 		6 0 1 0.14 0 0
CUI: C2674738
Disease: Abnormality of toe
Abnormality of toe 		6 0 1 0.14 0 0
CUI: C3494976
Disease: Migrating partial seizures in infancy
Migrating partial seizures in infancy 		11 0 1 8.3E-02 0 0
CUI: C0393584
Disease: Benign Hereditary Chorea
Benign Hereditary Chorea 		13 0 1 7.1E-02 0 0
CUI: C4023484
Disease: Uni- and bilateral multifocal epileptiform discharges
Uni- and bilateral multifocal epileptiform discharges 		14 0 1 6.7E-02 0 0
CUI: C4022849
Disease: Absent thumbnail
Absent thumbnail 		15 0 1 6.2E-02 0 0
CUI: C4023528
Disease: Abnormality of skin morphology
Abnormality of skin morphology 		16 0 1 5.9E-02 0 0
CUI: C0234649
Disease: Abnormal saccadic eye movement
Abnormal saccadic eye movement 		17 0 1 5.6E-02 0 0
CUI: C1844906
Disease: Broad finger
Broad finger 		17 0 1 5.6E-02 0 0
CUI: C4023986
Disease: Broad phalanx of the toes
Broad phalanx of the toes 		17 0 1 5.6E-02 0 0
CUI: C1533568
Disease: fertility disorders
fertility disorders 		18 0 1 5.3E-02 0 0
CUI: C4023499
Disease: Generalized clonic seizures
Generalized clonic seizures 		18 0 1 5.3E-02 0 0
CUI: C1969156
Disease: EEG with burst suppression
EEG with burst suppression 		19 0 1 5.0E-02 0 0
CUI: C4528176
Disease: High Risk Myelodysplastic Syndrome
High Risk Myelodysplastic Syndrome 		19 0 1 5.0E-02 0 0
CUI: C0869474
Disease: Dyscalculia
Dyscalculia 		20 0 1 4.8E-02 0 0
CUI: C1859598
Disease: ATAXIA, EARLY-ONSET, WITH OCULOMOTOR APRAXIA AND HYPOALBUMINEMIA
ATAXIA, EARLY-ONSET, WITH OCULOMOTOR APRAXIA AND HYPOALBUMINEMIA 		20 0 1 4.8E-02 0 0