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: C1835095
Disease: Macrodontia of permanent maxillary central incisor
Macrodontia of permanent maxillary central incisor 		8 0 1 0.12 0 0
CUI: C3550704
Disease: Abnormality of digit
Abnormality of digit 		9 9 1 0.11 2 0.12
CUI: C1849540
Disease: Delayed eruption of permanent teeth
Delayed eruption of permanent teeth 		10 0 1 1.0E-01 0 0
CUI: C1857500
Disease: Broad alveolar ridges
Broad alveolar ridges 		10 0 1 1.0E-01 0 0
CUI: C2748518
Disease: Lumbar scoliosis
Lumbar scoliosis 		10 0 1 1.0E-01 0 0
CUI: C4023338
Disease: Profound sensorineural hearing impairment
Profound sensorineural hearing impairment 		10 0 1 1.0E-01 0 0
CUI: C0037205
Disease: Sirenomelia
Sirenomelia 		11 0 1 9.1E-02 0 0
CUI: C0917800
Disease: Epilepsy, Myoclonic, Infantile
Epilepsy, Myoclonic, Infantile 		11 6 1 9.1E-02 1 6.7E-02
CUI: C1849667
Disease: Wide nasal base
Wide nasal base 		12 0 1 8.3E-02 0 0
CUI: C3463992
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 1
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 1 		12 30 1 8.3E-02 6 0.18
CUI: C3276623
Disease: Toenail dysplasia
Toenail dysplasia 		13 0 1 7.7E-02 0 0
CUI: C0685838
Disease: Gonadal dysgenesis XX type deafness
Gonadal dysgenesis XX type deafness 		14 0 1 7.1E-02 0 0
CUI: C1842138
Disease: Progressive hearing impairment
Progressive hearing impairment 		14 0 1 7.1E-02 0 0
CUI: C1846131
Disease: Photosensitive tonic-clonic seizures
Photosensitive tonic-clonic seizures 		14 0 1 7.1E-02 0 0
CUI: C0085543
Disease: Epilepsia Partialis Continua
Epilepsia Partialis Continua 		15 0 1 6.7E-02 0 0
CUI: C0700501
Disease: Congenital nystagmus
Congenital nystagmus 		15 0 1 6.7E-02 0 0
CUI: C0751776
Disease: Atypical Inclusion-Body Disease
Atypical Inclusion-Body Disease 		17 0 1 5.9E-02 0 0
CUI: C0751777
Disease: Familial Progressive Myoclonic Epilepsy
Familial Progressive Myoclonic Epilepsy 		17 0 1 5.9E-02 0 0
CUI: C0751780
Disease: Biotin-Responsive Encephalopathy
Biotin-Responsive Encephalopathy 		17 0 1 5.9E-02 0 0
CUI: C0751782
Disease: May-White Syndrome
May-White Syndrome 		17 0 1 5.9E-02 0 0
CUI: C1854699
Disease: Diffuse cerebellar atrophy
Diffuse cerebellar atrophy 		17 0 1 5.9E-02 0 0
CUI: C1861921
Disease: Cutaneous syndactyly
Cutaneous syndactyly 		17 0 1 5.9E-02 0 0
CUI: C1279412
Disease: periodic paralysis (finding)
periodic paralysis (finding) 		18 0 1 5.6E-02 0 0
CUI: C1303073
Disease: Nicolaides Baraitser syndrome
Nicolaides Baraitser syndrome 		18 0 1 5.6E-02 0 0
CUI: C1842878
Disease: Short 5th finger
Short 5th finger 		18 0 1 5.6E-02 0 0