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: C0268090
Disease: Manganese deficiency
Manganese deficiency 		1 0 1 0.20 0 0
CUI: C1833538
Disease: OROFACIAL CLEFT 7
OROFACIAL CLEFT 7 		1 0 1 0.20 0 0
CUI: C1857048
Disease: Progressive hypotrichosis
Progressive hypotrichosis 		1 0 1 0.20 0 0
CUI: C1861310
Disease: Progressive fusion 2nd-5th pip joints
Progressive fusion 2nd-5th pip joints 		1 0 1 0.20 0 0
CUI: C1861332
Disease: Fusion of midphalangeal joints
Fusion of midphalangeal joints 		1 0 1 0.20 0 0
CUI: C1866657
Disease: Congenital stapes ankylosis
Congenital stapes ankylosis 		1 0 1 0.20 0 0
CUI: C1968537
Disease: Severe speech delay
Severe speech delay 		1 0 1 0.20 0 0
CUI: C3276611
Disease: Absent or delayed speech development
Absent or delayed speech development 		1 0 1 0.20 0 0
CUI: C3279839
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 7
MENTAL RETARDATION, AUTOSOMAL DOMINANT 7 		1 39 1 0.20 1 2.6E-02
CUI: C4021041
Disease: Maternal fever in pregnancy
Maternal fever in pregnancy 		1 1 1 0.20 1 1.00
CUI: C4022561
Disease: Maternal first trimester fever
Maternal first trimester fever 		1 1 1 0.20 1 1.00
CUI: C4022733
Disease: Widened cerebral subarachnoid space
Widened cerebral subarachnoid space 		1 1 1 0.20 1 1.00
CUI: C4024674
Disease: Hypoplastic spinal processes
Hypoplastic spinal processes 		1 0 1 0.20 0 0
CUI: C1837245
Disease: Carney Complex Variant
Carney Complex Variant 		2 0 1 0.17 0 0
CUI: C1861328
Disease: Hypoplastic nasal septum
Hypoplastic nasal septum 		2 0 1 0.17 0 0
CUI: C1861339
Disease: Absent distal phalanges
Absent distal phalanges 		2 0 1 0.17 0 0
CUI: C1969652
Disease: BRACHYDACTYLY, TYPE B2 (disorder)
BRACHYDACTYLY, TYPE B2 (disorder) 		2 0 1 0.17 0 0
CUI: C3532933
Disease: Moderate expressive language delay
Moderate expressive language delay 		2 2 1 0.17 1 0.50
CUI: C4021537
Disease: Congenital conductive hearing loss
Congenital conductive hearing loss 		2 0 1 0.17 0 0
CUI: C4023976
Disease: Aplasia/Hypoplasia of the middle phalanges of the toes
Aplasia/Hypoplasia of the middle phalanges of the toes 		2 0 1 0.17 0 0
CUI: C4025022
Disease: Decreased mitochondrial complex III activity in liver tissue
Decreased mitochondrial complex III activity in liver tissue 		2 0 1 0.17 0 0
CUI: C4025117
Disease: Metacarpophalangeal synostosis
Metacarpophalangeal synostosis 		2 0 1 0.17 0 0
CUI: C0033324
Disease: Prognathism
Prognathism 		3 0 1 0.14 0 0
CUI: C0035353
Disease: Congenital retrognathism
Congenital retrognathism 		3 0 1 0.14 0 0
CUI: C0037140
Disease: B Virus Infection
B Virus Infection 		3 0 1 0.14 0 0