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: C0426489
Disease: Gingival cleft
Gingival cleft 		3 0 2 0.40 0 0
CUI: C1856016
Disease: HYDROLETHALUS SYNDROME 1
HYDROLETHALUS SYNDROME 1 		3 0 2 0.40 0 0
CUI: C2931104
Disease: Hydrolethalus syndrome
Hydrolethalus syndrome 		5 0 2 0.29 0 0
CUI: C0221360
Disease: Congenital absence of diaphragm
Congenital absence of diaphragm 		1 0 1 0.25 0 0
CUI: C0424000
Disease: Feeling suicidal (finding)
Feeling suicidal (finding) 		1 0 1 0.25 0 0
CUI: C1846722
Disease: Macrocephaly with Multiple Epiphyseal Dysplasia and Distinctive Facies
Macrocephaly with Multiple Epiphyseal Dysplasia and Distinctive Facies 		1 0 1 0.25 0 0
CUI: C1855616
Disease: Cartilaginous ossification of nose
Cartilaginous ossification of nose 		1 0 1 0.25 0 0
CUI: C1855620
Disease: Premature fusion of phalangeal epiphyses
Premature fusion of phalangeal epiphyses 		1 0 1 0.25 0 0
CUI: C1855622
Disease: Cartilaginous ossification of larynx
Cartilaginous ossification of larynx 		1 0 1 0.25 0 0
CUI: C1856017
Disease: Adrenal gland dysgenesis
Adrenal gland dysgenesis 		1 0 1 0.25 0 0
CUI: C1856027
Disease: Cleft in skull base
Cleft in skull base 		1 0 1 0.25 0 0
CUI: C1856029
Disease: Proximal tibial hypoplasia
Proximal tibial hypoplasia 		1 0 1 0.25 0 0
CUI: C1860164
Disease: Duplication of phalanx of hallux
Duplication of phalanx of hallux 		6 0 2 0.25 0 0
CUI: C1860165
Disease: Pulmonary valve defects
Pulmonary valve defects 		1 0 1 0.25 0 0
CUI: C3277723
Disease: JOUBERT SYNDROME 12
JOUBERT SYNDROME 12 		1 0 1 0.25 0 0
CUI: C3279899
Disease: Hydrolethalus Syndrome 2
Hydrolethalus Syndrome 2 		1 0 1 0.25 0 0
CUI: C4540040
Disease: FRASER SYNDROME 3
FRASER SYNDROME 3 		1 0 1 0.25 0 0
CUI: C0266893
Disease: Subgingival dental calculus
Subgingival dental calculus 		2 0 1 0.20 0 0
CUI: C1408806
Disease: Calcification of the auricular cartilage
Calcification of the auricular cartilage 		2 0 1 0.20 0 0
CUI: C1855608
Disease: Costal cartilage calcification
Costal cartilage calcification 		2 0 1 0.20 0 0
CUI: C3278123
Disease: Severe hydrocephalus
Severe hydrocephalus 		2 0 1 0.20 0 0
CUI: C3280899
Disease: JOUBERT SYNDROME 12/15, DIGENIC
JOUBERT SYNDROME 12/15, DIGENIC 		2 0 1 0.20 0 0
CUI: C4310745
Disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 55
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 55 		2 0 1 0.20 0 0
CUI: C1860162
Disease: Bifid distal phalanx of the thumb
Bifid distal phalanx of the thumb 		3 0 1 0.17 0 0
CUI: C2673611
Disease: Epidermolysis Bullosa Dystrophica, Autosomal Recessive, Localisata Variant
Epidermolysis Bullosa Dystrophica, Autosomal Recessive, Localisata Variant 		3 0 1 0.17 0 0