Source: CLINVAR ×
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: C4552072
Disease: X-linked infantile spasms
X-linked infantile spasms 		14 111 9 0.21 3 1.5E-02
CUI: C4014430
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21 		11 76 8 0.20 2 1.2E-02
CUI: C0014547
Disease: Epilepsies, Partial
Epilepsies, Partial 		8 0 4 9.8E-02 0 0
CUI: C0038273
Disease: Stereotypic Movement Disorder
Stereotypic Movement Disorder 		21 25 5 9.4E-02 2 1.7E-02
CUI: C0241210
Disease: Speech Delay
Speech Delay 		11 8 4 9.1E-02 1 9.9E-03
CUI: C0009952
Disease: Febrile Convulsions
Febrile Convulsions 		12 17 4 8.9E-02 2 1.8E-02
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		54 69 7 8.3E-02 2 1.2E-02
CUI: C0270850
Disease: Idiopathic generalized epilepsy
Idiopathic generalized epilepsy 		3 0 3 8.1E-02 0 0
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		128 164 12 7.8E-02 5 2.0E-02
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability 		74 93 8 7.8E-02 2 1.1E-02
CUI: C3463992
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 1
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 1 		8 0 3 7.1E-02 0 0
CUI: C0036572
Disease: Seizures
Seizures 		237 417 18 7.0E-02 8 1.6E-02
CUI: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia 		44 58 5 6.6E-02 2 1.3E-02
CUI: C1854882
Disease: Absent speech
Absent speech 		46 72 5 6.4E-02 2 1.2E-02
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		64 116 6 6.3E-02 1 4.8E-03
CUI: C0376532
Disease: Epilepsy, Rolandic
Epilepsy, Rolandic 		31 0 4 6.2E-02 0 0
CUI: C4551570
Disease: 2-3 toe syndactyly
2-3 toe syndactyly 		14 0 3 6.2E-02 0 0
CUI: C1860834
Disease: Infantile muscular hypotonia
Infantile muscular hypotonia 		15 24 3 6.1E-02 2 1.7E-02
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		124 192 9 5.9E-02 1 3.5E-03
CUI: C0520679
Disease: Sleep Apnea, Obstructive
Sleep Apnea, Obstructive 		19 23 3 5.7E-02 1 8.6E-03
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		303 505 18 5.6E-02 8 1.4E-02
CUI: C0026106
Disease: Mild Mental Retardation
Mild Mental Retardation 		39 0 4 5.6E-02 0 0
CUI: C3887898
Disease: Infantile Spasm
Infantile Spasm 		21 0 3 5.5E-02 0 0
CUI: C4048268
Disease: Cortical visual impairment
Cortical visual impairment 		21 27 3 5.5E-02 1 8.3E-03
CUI: C1720189
Disease: Episodic Ataxia
Episodic Ataxia 		2 5 2 5.4E-02 3 3.1E-02