Source: ALL
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: C1842563
Disease: Heterotopia, Periventricular, Autosomal Recessive
Heterotopia, Periventricular, Autosomal Recessive 		3 0 2 0.40 0 0
CUI: C4021884
Disease: Bilateral choanal atresia/stenosis
Bilateral choanal atresia/stenosis 		3 0 2 0.40 0 0
CUI: C1832390
Disease: Van Maldergem Wetzburger Verloes syndrome
Van Maldergem Wetzburger Verloes syndrome 		4 0 2 0.33 0 0
CUI: C1843003
Disease: MITRAL VALVE PROLAPSE, MYXOMATOUS 2
MITRAL VALVE PROLAPSE, MYXOMATOUS 2 		1 0 1 0.25 0 0
CUI: C1856765
Disease: Irregular dentition
Irregular dentition 		6 0 2 0.25 0 0
CUI: C3277117
Disease: Caudal appendage
Caudal appendage 		6 0 2 0.25 0 0
CUI: C3280730
Disease: EPILEPSY, FAMILIAL TEMPORAL LOBE, 5
EPILEPSY, FAMILIAL TEMPORAL LOBE, 5 		1 3 1 0.25 2 0.50
CUI: C3280734
Disease: FEBRILE SEIZURES, FAMILIAL, 11
FEBRILE SEIZURES, FAMILIAL, 11 		1 0 1 0.25 0 0
CUI: C3809875
Disease: VAN MALDERGEM SYNDROME 2
VAN MALDERGEM SYNDROME 2 		1 0 1 0.25 0 0
CUI: C4014939
Disease: HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 2
HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 2 		1 0 1 0.25 0 0
CUI: C4021467
Disease: Contracture of the proximal interphalangeal joint of the 3rd finger
Contracture of the proximal interphalangeal joint of the 3rd finger 		1 1 1 0.25 1 0.33
CUI: C4551950
Disease: VAN MALDERGEM SYNDROME 1
VAN MALDERGEM SYNDROME 1 		1 0 1 0.25 0 0
CUI: C4749273
Disease: Benign familial mesial temporal lobe epilepsy
Benign familial mesial temporal lobe epilepsy 		1 0 1 0.25 0 0
CUI: C0265865
Disease: Mesocardia
Mesocardia 		2 1 1 0.20 1 0.33
CUI: C1332610
Disease: Brain Stem Glioblastoma
Brain Stem Glioblastoma 		2 0 1 0.20 0 0
CUI: C1848514
Disease: Short fourth metatarsal
Short fourth metatarsal 		8 0 2 0.20 0 0
CUI: C1856140
Disease: Pericardial lymphangiectasia
Pericardial lymphangiectasia 		2 0 1 0.20 0 0
CUI: C4021830
Disease: Bilateral camptodactyly
Bilateral camptodactyly 		2 1 1 0.20 1 0.33
CUI: C4024170
Disease: Localized hirsutism
Localized hirsutism 		2 2 1 0.20 1 0.25
CUI: C0334552
Disease: Malignant Giant Cell Tumor of Bone
Malignant Giant Cell Tumor of Bone 		3 0 1 0.17 0 0
CUI: C0334553
Disease: Giant Cell Tumor of Soft Tissue
Giant Cell Tumor of Soft Tissue 		3 0 1 0.17 0 0
CUI: C0410935
Disease: Wide cranial sutures
Wide cranial sutures 		10 0 2 0.17 0 0
CUI: C2607947
Disease: Unilateral deafness
Unilateral deafness 		3 1 1 0.17 1 0.33
CUI: C4012050
Disease: HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 1
HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 1 		3 0 1 0.17 0 0
CUI: C4020949
Disease: Abnormal emotion/affect behavior
Abnormal emotion/affect behavior 		3 13 1 0.17 2 0.14