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: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		967 579 41 3.6E-02 1 1.7E-03
CUI: C0036572
Disease: Seizures
Seizures 		2152 553 78 3.4E-02 1 1.8E-03
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		1825 553 58 2.9E-02 1 1.8E-03
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		546 541 111 0.17 1 1.8E-03
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified 		850 135 21 2.0E-02 3 2.2E-02
CUI: C0028738
Disease: Nystagmus
Nystagmus 		833 95 134 0.14 1 9.9E-03
CUI: C0151786
Disease: Muscle Weakness
Muscle Weakness 		536 87 12 1.6E-02 2 2.2E-02
CUI: C0018681
Disease: Headache
Headache 		338 75 15 2.7E-02 2 2.5E-02
CUI: C0240635
Disease: Byzanthine arch palate
Byzanthine arch palate 		497 70 7 9.8E-03 1 1.3E-02
CUI: C0339525
Disease: Autosomal dominant retinitis pigmentosa
Autosomal dominant retinitis pigmentosa 		85 65 31 0.11 1 1.4E-02
CUI: C0152200
Disease: Achromatopsia
Achromatopsia 		26 63 14 5.9E-02 2 2.9E-02
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		595 57 13 1.6E-02 2 3.2E-02
CUI: C0009806
Disease: Constipation
Constipation 		424 57 10 1.6E-02 1 1.6E-02
CUI: C0029124
Disease: Optic Atrophy
Optic Atrophy 		568 51 107 0.16 1 1.8E-02
CUI: C0011168
Disease: Deglutition Disorders
Deglutition Disorders 		389 50 14 2.3E-02 1 1.8E-02
CUI: C1857618
Disease: Achromatopsia 2
Achromatopsia 2 		2 43 2 8.8E-03 2 4.2E-02
CUI: C4072872
Disease: obsolete Rod-cone dystrophy
obsolete Rod-cone dystrophy 		29 41 14 5.8E-02 1 2.1E-02
CUI: C3887898
Disease: Infantile Spasm
Infantile Spasm 		93 39 2 6.3E-03 1 2.2E-02
CUI: C0494475
Disease: Tonic - clonic seizures
Tonic - clonic seizures 		300 32 6 1.2E-02 1 2.6E-02
CUI: C0311394
Disease: Difficulty walking
Difficulty walking 		224 30 4 8.9E-03 2 5.7E-02
CUI: C1850406
Disease: NAVAJO NEUROHEPATOPATHY
NAVAJO NEUROHEPATOPATHY 		4 28 1 4.3E-03 1 2.9E-02
CUI: C4048268
Disease: Cortical visual impairment
Cortical visual impairment 		136 27 3 8.3E-03 1 3.0E-02
CUI: C1853743
Disease: Muscular hypotonia of the trunk
Muscular hypotonia of the trunk 		156 25 5 1.3E-02 1 3.2E-02
CUI: C0856863
Disease: Broad-based gait
Broad-based gait 		75 24 2 6.7E-03 2 6.9E-02
CUI: C1836150
Disease: Gait imbalance
Gait imbalance 		57 24 2 7.1E-03 2 6.9E-02