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: C1849265
Disease: Overgrowth
Overgrowth 		103 93 13 3.2E-02 1 8.7E-03
CUI: C0038379
Disease: Strabismus
Strabismus 		716 89 96 0.10 1 9.0E-03
CUI: C0151786
Disease: Muscle Weakness
Muscle Weakness 		536 87 96 0.13 3 2.8E-02
CUI: C0010417
Disease: Cryptorchidism
Cryptorchidism 		725 80 74 7.7E-02 1 9.8E-03
CUI: C1836830
Disease: Developmental regression
Developmental regression 		333 80 71 0.12 1 9.8E-03
CUI: C0018681
Disease: Headache
Headache 		338 75 27 4.3E-02 1 1.0E-02
CUI: C0037317
Disease: Sleep disturbances
Sleep disturbances 		311 74 34 5.8E-02 1 1.0E-02
CUI: C1854882
Disease: Absent speech
Absent speech 		232 72 30 5.8E-02 2 2.2E-02
CUI: C0240635
Disease: Byzanthine arch palate
Byzanthine arch palate 		497 70 60 8.0E-02 3 3.3E-02
CUI: C0004134
Disease: Ataxia
Ataxia 		868 68 166 0.16 1 1.1E-02
CUI: C0015672
Disease: Fatigue
Fatigue 		760 67 70 7.0E-02 1 1.1E-02
CUI: C0740279
Disease: Cerebellar atrophy
Cerebellar atrophy 		321 67 42 7.1E-02 2 2.3E-02
CUI: C0239234
Disease: Low set ears
Low set ears 		489 64 66 9.0E-02 1 1.2E-02
CUI: C0232466
Disease: Feeding difficulties
Feeding difficulties 		473 62 48 6.5E-02 2 2.4E-02
CUI: C0034152
Disease: Henoch-Schoenlein Purpura
Henoch-Schoenlein Purpura 		198 59 23 4.7E-02 1 1.2E-02
CUI: C1837658
Disease: Gross motor development delay
Gross motor development delay 		118 59 19 4.6E-02 3 3.8E-02
CUI: C0154723
Disease: Migraine with Aura
Migraine with Aura 		87 56 8 2.0E-02 1 1.3E-02
CUI: C1386048
Disease: Intrauterine retardation
Intrauterine retardation 		41 56 7 2.0E-02 1 1.3E-02
CUI: C0013362
Disease: Dysarthria
Dysarthria 		487 54 119 0.17 1 1.3E-02
CUI: C0042798
Disease: Low Vision
Low Vision 		157 51 10 2.2E-02 1 1.4E-02
CUI: C0011168
Disease: Deglutition Disorders
Deglutition Disorders 		389 50 61 9.5E-02 1 1.4E-02
CUI: C0027868
Disease: Neuromuscular Diseases
Neuromuscular Diseases 		171 50 25 5.5E-02 1 1.4E-02
CUI: C0151526
Disease: Premature Birth
Premature Birth 		192 50 20 4.1E-02 2 2.8E-02
CUI: C1837397
Disease: Severe global developmental delay
Severe global developmental delay 		130 50 16 3.8E-02 2 2.8E-02
CUI: C0026838
Disease: Muscle Spasticity
Muscle Spasticity 		580 48 80 9.9E-02 3 4.4E-02