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: C0406727
Disease: Orofaciodigital syndrome 4
Orofaciodigital syndrome 4 		1 0 1 0.11 0 0
CUI: C1842577
Disease: JOUBERT SYNDROME 2
JOUBERT SYNDROME 2 		1 0 1 0.11 0 0
CUI: C1846722
Disease: Macrocephaly with Multiple Epiphyseal Dysplasia and Distinctive Facies
Macrocephaly with Multiple Epiphyseal Dysplasia and Distinctive Facies 		1 0 1 0.11 0 0
CUI: C1860165
Disease: Pulmonary valve defects
Pulmonary valve defects 		1 0 1 0.11 0 0
CUI: C1864148
Disease: MECKEL SYNDROME, TYPE 2
MECKEL SYNDROME, TYPE 2 		1 0 1 0.11 0 0
CUI: C2749019
Disease: JOUBERT SYNDROME 10 (disorder)
JOUBERT SYNDROME 10 (disorder) 		1 0 1 0.11 0 0
CUI: C3277723
Disease: JOUBERT SYNDROME 12
JOUBERT SYNDROME 12 		1 0 1 0.11 0 0
CUI: C3279899
Disease: Hydrolethalus Syndrome 2
Hydrolethalus Syndrome 2 		1 0 1 0.11 0 0
CUI: C3553758
Disease: JOUBERT SYNDROME 18
JOUBERT SYNDROME 18 		1 0 1 0.11 0 0
CUI: C3810278
Disease: JOUBERT SYNDROME 22
JOUBERT SYNDROME 22 		1 0 1 0.11 0 0
CUI: C4021185
Disease: Absent crus of helix
Absent crus of helix 		1 0 1 0.11 0 0
CUI: C4310701
Disease: OROFACIODIGITAL SYNDROME XV
OROFACIODIGITAL SYNDROME XV 		1 0 1 0.11 0 0
CUI: C4693616
Disease: SHORT-RIB THORACIC DYSPLASIA 20 WITH POLYDACTYLY
SHORT-RIB THORACIC DYSPLASIA 20 WITH POLYDACTYLY 		1 0 1 0.11 0 0
CUI: C4693640
Disease: OROFACIODIGITAL SYNDROME XVII
OROFACIODIGITAL SYNDROME XVII 		1 0 1 0.11 0 0
CUI: C4694024
Disease: SHORT-RIB THORACIC DYSPLASIA 20/7 WITH POLYDACTYLY, DIGENIC (1 patient)
SHORT-RIB THORACIC DYSPLASIA 20/7 WITH POLYDACTYLY, DIGENIC (1 patient) 		1 0 1 0.11 0 0
CUI: C0158733
Disease: Hand polydactyly
Hand polydactyly 		75 0 8 0.11 0 0
CUI: C0265251
Disease: Oto-Palato-digital syndrome type 1
Oto-Palato-digital syndrome type 1 		2 0 1 1.0E-01 0 0
CUI: C0342748
Disease: Glycogen synthase deficiency
Glycogen synthase deficiency 		2 0 1 1.0E-01 0 0
CUI: C0549173
Disease: Congenital atresia of rectum
Congenital atresia of rectum 		2 0 1 1.0E-01 0 0
CUI: C0561921
Disease: Perineal fistula
Perineal fistula 		2 0 1 1.0E-01 0 0
CUI: C1419610
Disease: RP23 gene
RP23 gene 		2 0 1 1.0E-01 0 0
CUI: C1837888
Disease: Absent nasal bridge
Absent nasal bridge 		2 0 1 1.0E-01 0 0
CUI: C1846175
Disease: SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 2 (disorder)
SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 2 (disorder) 		2 0 1 1.0E-01 0 0
CUI: C1858545
Disease: Facial capillary hemangioma
Facial capillary hemangioma 		2 0 1 1.0E-01 0 0
CUI: C2931426
Disease: Orofaciodigital syndrome type1
Orofaciodigital syndrome type1 		2 0 1 1.0E-01 0 0