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: C0036572
Disease: Seizures
Seizures 		2152 553 19 8.7E-03 8 1.4E-02
CUI: C0235942
Disease: Abnormality of the skull
Abnormality of the skull 		4 11 2 3.4E-02 8 0.44
CUI: C0452138
Disease: Sensorineural hearing loss, bilateral
Sensorineural hearing loss, bilateral 		117 30 2 1.2E-02 8 0.22
CUI: C0795934
Disease: Digitorenocerebral Syndrome
Digitorenocerebral Syndrome 		4 11 1 1.7E-02 8 0.44
CUI: C0853087
Disease: Nail abnormality
Nail abnormality 		67 11 3 2.5E-02 8 0.44
CUI: C1843367
Disease: Poor school performance
Poor school performance 		211 411 3 1.1E-02 8 1.9E-02
CUI: C3550704
Disease: Abnormality of digit
Abnormality of digit 		9 9 2 3.2E-02 8 0.50
CUI: C4021085
Disease: Abnormality of brain morphology
Abnormality of brain morphology 		104 131 2 1.3E-02 8 5.8E-02
CUI: C1868114
Disease: POLYDACTYLY, PREAXIAL II (disorder)
POLYDACTYLY, PREAXIAL II (disorder) 		4 10 4 7.1E-02 5 0.25
CUI: C3463992
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 1
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 1 		12 30 1 1.5E-02 2 4.7E-02
CUI: C3809181
Disease: Caused by mutation in the TBC1 domain family, member 24 gene (TBC1D24, 613577.0004)
Caused by mutation in the TBC1 domain family, member 24 gene (TBC1D24, 613577.0004) 		1 6 1 1.8E-02 2 0.11
CUI: C3892048
Disease: DEAFNESS, AUTOSOMAL DOMINANT 65
DEAFNESS, AUTOSOMAL DOMINANT 65 		1 10 1 1.8E-02 2 8.7E-02
CUI: C0003862
Disease: Arthralgia
Arthralgia 		248 27 7 2.4E-02 1 2.4E-02
CUI: C0009806
Disease: Constipation
Constipation 		424 57 7 1.5E-02 1 1.4E-02
CUI: C0015310
Disease: Exotropia
Exotropia 		78 23 1 7.5E-03 1 2.7E-02
CUI: C0017639
Disease: Gliosis
Gliosis 		102 3 1 6.4E-03 1 5.9E-02
CUI: C0018965
Disease: Hematuria
Hematuria 		235 31 6 2.1E-02 1 2.2E-02
CUI: C0020458
Disease: Hyperhidrosis disorder
Hyperhidrosis disorder 		114 7 2 1.2E-02 1 4.8E-02
CUI: C0020490
Disease: Hyperopia
Hyperopia 		142 29 1 5.1E-03 1 2.3E-02
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		590 77 33 5.4E-02 1 1.1E-02
CUI: C0024636
Disease: Malocclusion
Malocclusion 		128 10 7 4.0E-02 1 4.2E-02
CUI: C0025990
Disease: Micrognathism
Micrognathism 		586 53 34 5.6E-02 1 1.5E-02
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		967 579 7 6.9E-03 1 1.7E-03
CUI: C0028738
Disease: Nystagmus
Nystagmus 		833 95 28 3.3E-02 1 9.2E-03
CUI: C0041974
Disease: Urethral Stenosis
Urethral Stenosis 		41 1 2 2.1E-02 1 6.7E-02