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: C0014548
Disease: Epilepsy, Generalized
Epilepsy, Generalized 		4 4 3 0.12 3 7.0E-02
CUI: C2711227
Disease: Steatohepatitis
Steatohepatitis 		5 6 3 0.12 3 6.7E-02
CUI: C0020619
Disease: Hypogonadism
Hypogonadism 		6 6 3 0.11 3 6.7E-02
CUI: C1858673
Disease: GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2
GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2 		2 0 2 8.3E-02 0 0
CUI: C1864987
Disease: Migraine, Familial Hemiplegic, 3
Migraine, Familial Hemiplegic, 3 		2 0 2 8.3E-02 0 0
CUI: C2676079
Disease: METABOLIC SYNDROME, SUSCEPTIBILITY TO
METABOLIC SYNDROME, SUSCEPTIBILITY TO 		2 2 2 8.3E-02 1 2.3E-02
CUI: C2751756
Disease: Febrile Convulsions, Familial, 3a
Febrile Convulsions, Familial, 3a 		2 0 2 8.3E-02 0 0
CUI: C4016925
Disease: OBESITY, AGE AT ONSET OF
OBESITY, AGE AT ONSET OF 		2 0 2 8.3E-02 0 0
CUI: C0234985
Disease: Mental deterioration
Mental deterioration 		16 0 3 8.1E-02 0 0
CUI: C0270850
Disease: Idiopathic generalized epilepsy
Idiopathic generalized epilepsy 		3 0 2 8.0E-02 0 0
CUI: C0677600
Disease: Inspiratory stridor
Inspiratory stridor 		3 0 2 8.0E-02 0 0
CUI: C1301937
Disease: Talipes
Talipes 		3 0 2 8.0E-02 0 0
CUI: C1843392
Disease: Death in childhood
Death in childhood 		3 0 2 8.0E-02 0 0
CUI: C4023408
Disease: Abnormality of mouth size
Abnormality of mouth size 		3 0 2 8.0E-02 0 0
CUI: C4551549
Disease: Early Infantile Epileptic Encephalopathy 6
Early Infantile Epileptic Encephalopathy 6 		3 0 2 8.0E-02 0 0
CUI: C4551649
Disease: Congenital Dysplasia Of The Hip
Congenital Dysplasia Of The Hip 		3 0 2 8.0E-02 0 0
CUI: C0011071
Disease: Sudden death
Sudden death 		4 0 2 7.7E-02 0 0
CUI: C0017639
Disease: Gliosis
Gliosis 		4 0 2 7.7E-02 0 0
CUI: C0431391
Disease: Hemimegalencephaly
Hemimegalencephaly 		5 0 2 7.4E-02 0 0
CUI: C1837084
Disease: Short metacarpal
Short metacarpal 		5 7 2 7.4E-02 2 4.3E-02
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus 		6 14 2 7.1E-02 2 3.7E-02
CUI: C0037822
Disease: Speech Disorders
Speech Disorders 		6 6 2 7.1E-02 2 4.3E-02
CUI: C3805727
Disease: MEGALENCEPHALY, AUTOSOMAL DOMINANT
MEGALENCEPHALY, AUTOSOMAL DOMINANT 		6 0 2 7.1E-02 0 0
CUI: C1263846
Disease: Attention deficit hyperactivity disorder
Attention deficit hyperactivity disorder 		39 0 4 6.8E-02 0 0
CUI: C0241210
Disease: Speech Delay
Speech Delay 		11 0 2 6.1E-02 0 0