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: C0426428
Disease: Bifid nasal tip
Bifid nasal tip 		10 0 4 0.27 0 0
CUI: C1333160
Disease: Lipoma of corpus callosum
Lipoma of corpus callosum 		2 0 2 0.22 0 0
CUI: C4025226
Disease: Pectoral muscle hypoplasia/aplasia
Pectoral muscle hypoplasia/aplasia 		2 0 2 0.22 0 0
CUI: C0220767
Disease: Craniofrontonasal dysplasia
Craniofrontonasal dysplasia 		8 0 3 0.21 0 0
CUI: C0432106
Disease: Midline facial cleft - Tessier cleft 0
Midline facial cleft - Tessier cleft 0 		8 0 3 0.21 0 0
CUI: C1850968
Disease: Median cleft palate
Median cleft palate 		3 0 2 0.20 0 0
CUI: C1840068
Disease: Patellar hypoplasia
Patellar hypoplasia 		5 0 2 0.17 0 0
CUI: C1863872
Disease: Coloboma of superior eyelid
Coloboma of superior eyelid 		6 0 2 0.15 0 0
CUI: C1850256
Disease: Median cleft lip
Median cleft lip 		15 0 3 0.14 0 0
CUI: C1876203
Disease: Frontonasal dysplasia
Frontonasal dysplasia 		16 0 3 0.14 0 0
CUI: C1853486
Disease: Widow's peak
Widow's peak 		9 0 2 0.12 0 0
CUI: C1851059
Disease: Broad columella
Broad columella 		10 0 2 0.12 0 0
CUI: C1868598
Disease: PARIETAL FORAMINA
PARIETAL FORAMINA 		20 0 3 0.12 0 0
CUI: C0032357
Disease: Poland Syndrome
Poland Syndrome 		1 0 1 0.11 0 0
CUI: C0221360
Disease: Congenital absence of diaphragm
Congenital absence of diaphragm 		1 0 1 0.11 0 0
CUI: C0265425
Disease: 9p partial monosomy syndrome
9p partial monosomy syndrome 		1 0 1 0.11 0 0
CUI: C0332881
Disease: Congenital pseudoarthrosis
Congenital pseudoarthrosis 		1 0 1 0.11 0 0
CUI: C0334467
Disease: Fibrolipoma
Fibrolipoma 		1 0 1 0.11 0 0
CUI: C0349538
Disease: Malignant melanoma of anus
Malignant melanoma of anus 		1 0 1 0.11 0 0
CUI: C0432360
Disease: Neurofibromatosis type 5
Neurofibromatosis type 5 		1 0 1 0.11 0 0
CUI: C0796182
Disease: Acromelic frontonasal dysplasia
Acromelic frontonasal dysplasia 		1 0 1 0.11 0 0
CUI: C1152136
Disease: sucrose-phosphate synthase activity
sucrose-phosphate synthase activity 		1 0 1 0.11 0 0
CUI: C1709220
Disease: Desmoplastic Neurotropic Melanoma
Desmoplastic Neurotropic Melanoma 		1 0 1 0.11 0 0
CUI: C1832352
Disease: Oculoauriculofrontonasal syndrome
Oculoauriculofrontonasal syndrome 		1 0 1 0.11 0 0
CUI: C1834235
Disease: NEUROFIBROMATOSIS, FAMILIAL SPINAL
NEUROFIBROMATOSIS, FAMILIAL SPINAL 		1 0 1 0.11 0 0