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: C3278658
Disease: Linear hyperpigmentation
Linear hyperpigmentation 		4 2 1 0.17 1 0.20
CUI: C3532947
Disease: Severe receptive language delay
Severe receptive language delay 		4 4 1 0.17 1 0.14
CUI: C4274995
Disease: Lissencephaly with cerebellar hypoplasia
Lissencephaly with cerebellar hypoplasia 		4 0 1 0.17 0 0
CUI: C0751246
Disease: Illusions, Visual
Illusions, Visual 		5 0 1 0.14 0 0
CUI: C1849683
Disease: No social interaction
No social interaction 		5 3 1 0.14 1 0.17
CUI: C1850853
Disease: Hyperextensibility at wrists
Hyperextensibility at wrists 		5 1 1 0.14 1 0.25
CUI: C1851833
Disease: Premature birth following premature rupture of fetal membranes
Premature birth following premature rupture of fetal membranes 		5 4 1 0.14 1 0.14
CUI: C1853618
Disease: Perivascular spaces
Perivascular spaces 		5 0 1 0.14 0 0
CUI: C2609093
Disease: Pancreatic neuroendocrine tumour metastatic
Pancreatic neuroendocrine tumour metastatic 		5 0 1 0.14 0 0
CUI: C3279675
Disease: Perisylvian polymicrogyria
Perisylvian polymicrogyria 		5 0 1 0.14 0 0
CUI: C4024877
Disease: Hyperpigmented/hypopigmented macules
Hyperpigmented/hypopigmented macules 		5 1 1 0.14 1 0.25
CUI: C4284594
Disease: BAND HETEROTOPIA
BAND HETEROTOPIA 		5 0 1 0.14 0 0
CUI: C0029128
Disease: Optic Disk Drusen
Optic Disk Drusen 		6 3 1 0.12 1 0.17
CUI: C1112324
Disease: Multifocal micronodular pneumocyte hyperplasia
Multifocal micronodular pneumocyte hyperplasia 		6 0 1 0.12 0 0
CUI: C1838702
Disease: Retinitis Pigmentosa 13
Retinitis Pigmentosa 13 		6 0 1 0.12 0 0
CUI: C1844925
Disease: Cervical spinal canal stenosis
Cervical spinal canal stenosis 		6 2 1 0.12 1 0.20
CUI: C3805727
Disease: MEGALENCEPHALY, AUTOSOMAL DOMINANT
MEGALENCEPHALY, AUTOSOMAL DOMINANT 		6 5 1 0.12 1 0.12
CUI: C4025884
Disease: Abnormality of upper lip
Abnormality of upper lip 		6 0 1 0.12 0 0
CUI: C0231779
Disease: Heel toe gait
Heel toe gait 		7 0 1 0.11 0 0
CUI: C0238015
Disease: Autonomic Dysreflexia
Autonomic Dysreflexia 		7 0 1 0.11 0 0
CUI: C3809877
Disease: Prader-Willi-like syndrome
Prader-Willi-like syndrome 		7 0 1 0.11 0 0
CUI: C4285730
Disease: Activated PI3 kinase delta syndrome
Activated PI3 kinase delta syndrome 		7 0 1 0.11 0 0
CUI: C0011434
Disease: Dentin, Secondary
Dentin, Secondary 		8 0 1 1.0E-01 0 0
CUI: C0393699
Disease: Symptomatic Infantile Spasms
Symptomatic Infantile Spasms 		8 0 1 1.0E-01 0 0
CUI: C0406191
Disease: Pseudofolliculitis
Pseudofolliculitis 		8 0 1 1.0E-01 0 0