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: C0431391
Disease: Hemimegalencephaly
Hemimegalencephaly 		5 4 4 0.57 1 0.12
CUI: C0017639
Disease: Gliosis
Gliosis 		4 3 3 0.43 1 0.14
CUI: C1840380
Disease: Persistent cavum septum pellucidum
Persistent cavum septum pellucidum 		2 2 2 0.33 2 0.40
CUI: C1858673
Disease: GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2
GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2 		2 0 2 0.33 0 0
CUI: C1864987
Disease: Migraine, Familial Hemiplegic, 3
Migraine, Familial Hemiplegic, 3 		2 0 2 0.33 0 0
CUI: C2751756
Disease: Febrile Convulsions, Familial, 3a
Febrile Convulsions, Familial, 3a 		2 0 2 0.33 0 0
CUI: C4023518
Disease: Abnormality of skin adnexa morphology
Abnormality of skin adnexa morphology 		2 2 2 0.33 2 0.40
CUI: C0270850
Disease: Idiopathic generalized epilepsy
Idiopathic generalized epilepsy 		3 0 2 0.29 0 0
CUI: C0677600
Disease: Inspiratory stridor
Inspiratory stridor 		3 0 2 0.29 0 0
CUI: C1301937
Disease: Talipes
Talipes 		3 0 2 0.29 0 0
CUI: C1843392
Disease: Death in childhood
Death in childhood 		3 2 2 0.29 1 0.17
CUI: C4023408
Disease: Abnormality of mouth size
Abnormality of mouth size 		3 0 2 0.29 0 0
CUI: C4551549
Disease: Early Infantile Epileptic Encephalopathy 6
Early Infantile Epileptic Encephalopathy 6 		3 0 2 0.29 0 0
CUI: C4551649
Disease: Congenital Dysplasia Of The Hip
Congenital Dysplasia Of The Hip 		3 0 2 0.29 0 0
CUI: C0011071
Disease: Sudden death
Sudden death 		4 3 2 0.25 1 0.14
CUI: C1185616
Disease: Hair whorls
Hair whorls 		4 5 2 0.25 2 0.25
CUI: C3532947
Disease: Severe receptive language delay
Severe receptive language delay 		4 4 2 0.25 1 0.12
CUI: C1857278
Disease: Partial or complete agenesis of corpus callosum
Partial or complete agenesis of corpus callosum 		5 6 2 0.22 2 0.22
CUI: C0266464
Disease: Polymicrogyria
Polymicrogyria 		17 19 4 0.21 2 9.1E-02
CUI: C1836599
Disease: Macrocephaly at birth
Macrocephaly at birth 		6 6 2 0.20 1 1.0E-01
CUI: C1837249
Disease: Malformations of Cortical Development, Group II
Malformations of Cortical Development, Group II 		12 97 3 0.20 2 2.0E-02
CUI: C1851085
Disease: Severe expressive language delay
Severe expressive language delay 		6 7 2 0.20 1 9.1E-02
CUI: C4023808
Disease: Hyperextensibility at elbow
Hyperextensibility at elbow 		7 7 2 0.18 1 9.1E-02
CUI: C0009451
Disease: Communicating Hydrocephalus
Communicating Hydrocephalus 		1 1 1 0.17 1 0.20
CUI: C0029443
Disease: Osteomyelitis
Osteomyelitis 		1 0 1 0.17 0 0