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: C3806402
Disease: EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT MENTAL RETARDATION
EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT MENTAL RETARDATION 		0 23 0 0 1 7.8E-03
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		88 0 1 5.7E-03 0 0
CUI: C0018784
Disease: Sensorineural Hearing Loss (disorder)
Sensorineural Hearing Loss (disorder) 		39 44 1 7.9E-03 1 6.7E-03
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		37 0 1 8.1E-03 0 0
CUI: C0009691
Disease: Congenital cataract
Congenital cataract 		32 0 1 8.4E-03 0 0
CUI: C0376532
Disease: Epilepsy, Rolandic
Epilepsy, Rolandic 		31 0 1 8.5E-03 0 0
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		28 74 1 8.7E-03 1 5.6E-03
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		27 0 1 8.8E-03 0 0
CUI: C1168401
Disease: Squamous cell carcinoma of the head and neck
Squamous cell carcinoma of the head and neck 		27 0 1 8.8E-03 0 0
CUI: C0027651
Disease: Neoplasms
Neoplasms 		26 98 1 8.8E-03 2 9.9E-03
CUI: C0153574
Disease: Malignant Uterine Corpus Neoplasm
Malignant Uterine Corpus Neoplasm 		26 0 1 8.8E-03 0 0
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		26 0 1 8.8E-03 0 0
CUI: C0025202
Disease: melanoma
melanoma 		25 0 1 8.9E-03 0 0
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease 		24 0 1 9.0E-03 0 0
CUI: C0241005
Disease: Creatine phosphokinase serum increased
Creatine phosphokinase serum increased 		23 0 1 9.1E-03 0 0
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome 		23 0 1 9.1E-03 0 0
CUI: C0019209
Disease: Hepatomegaly
Hepatomegaly 		21 0 1 9.3E-03 0 0
CUI: C0022680
Disease: Polycystic Kidney Diseases
Polycystic Kidney Diseases 		21 0 1 9.3E-03 0 0
CUI: C0026850
Disease: Muscular Dystrophy
Muscular Dystrophy 		21 0 1 9.3E-03 0 0
CUI: C3887898
Disease: Infantile Spasm
Infantile Spasm 		21 0 1 9.3E-03 0 0
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection 		21 442 1 9.3E-03 1 1.8E-03
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders 		19 0 1 9.4E-03 0 0
CUI: C0004096
Disease: Asthma
Asthma 		18 0 1 9.5E-03 0 0
CUI: C0031117
Disease: Peripheral Neuropathy
Peripheral Neuropathy 		18 0 1 9.5E-03 0 0
CUI: C0265215
Disease: Meckel-Gruber syndrome
Meckel-Gruber syndrome 		18 0 1 9.5E-03 0 0