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: C3805727
Disease: MEGALENCEPHALY, AUTOSOMAL DOMINANT
MEGALENCEPHALY, AUTOSOMAL DOMINANT 		6 5 4 0.57 1 0.12
CUI: C1858673
Disease: GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2
GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2 		2 0 2 0.40 0 0
CUI: C1864987
Disease: Migraine, Familial Hemiplegic, 3
Migraine, Familial Hemiplegic, 3 		2 0 2 0.40 0 0
CUI: C2751756
Disease: Febrile Convulsions, Familial, 3a
Febrile Convulsions, Familial, 3a 		2 0 2 0.40 0 0
CUI: C0270850
Disease: Idiopathic generalized epilepsy
Idiopathic generalized epilepsy 		3 0 2 0.33 0 0
CUI: C0677600
Disease: Inspiratory stridor
Inspiratory stridor 		3 0 2 0.33 0 0
CUI: C1301937
Disease: Talipes
Talipes 		3 0 2 0.33 0 0
CUI: C1843392
Disease: Death in childhood
Death in childhood 		3 2 2 0.33 1 0.20
CUI: C4023408
Disease: Abnormality of mouth size
Abnormality of mouth size 		3 0 2 0.33 0 0
CUI: C4551549
Disease: Early Infantile Epileptic Encephalopathy 6
Early Infantile Epileptic Encephalopathy 6 		3 0 2 0.33 0 0
CUI: C4551649
Disease: Congenital Dysplasia Of The Hip
Congenital Dysplasia Of The Hip 		3 0 2 0.33 0 0
CUI: C0011071
Disease: Sudden death
Sudden death 		4 3 2 0.29 1 0.17
CUI: C0017639
Disease: Gliosis
Gliosis 		4 3 2 0.29 1 0.17
CUI: C1336078
Disease: Papillary renal cell carcinoma, sporadic
Papillary renal cell carcinoma, sporadic 		11 0 3 0.23 0 0
CUI: C0266464
Disease: Polymicrogyria
Polymicrogyria 		17 19 4 0.22 2 9.5E-02
CUI: C1836599
Disease: Macrocephaly at birth
Macrocephaly at birth 		6 6 2 0.22 1 0.11
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma 		12 66 3 0.21 1 1.4E-02
CUI: C1837249
Disease: Malformations of Cortical Development, Group II
Malformations of Cortical Development, Group II 		12 97 3 0.21 1 1.0E-02
CUI: C0009451
Disease: Communicating Hydrocephalus
Communicating Hydrocephalus 		1 0 1 0.20 0 0
CUI: C0152207
Disease: Alternating Exotropia
Alternating Exotropia 		1 0 1 0.20 0 0
CUI: C0158763
Disease: Macrodactylia of fingers
Macrodactylia of fingers 		1 0 1 0.20 0 0
CUI: C0158768
Disease: Macrodactyly of toe
Macrodactyly of toe 		1 0 1 0.20 0 0
CUI: C0265552
Disease: Congenital macrodactylia
Congenital macrodactylia 		1 0 1 0.20 0 0
CUI: C0266166
Disease: Congenital duplication of intestine
Congenital duplication of intestine 		1 0 1 0.20 0 0
CUI: C0677886
Disease: Epithelial ovarian cancer
Epithelial ovarian cancer 		1 0 1 0.20 0 0