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: C1855845
Disease: Patchy osteosclerosis
Patchy osteosclerosis 		3 0 1 0.20 0 0
CUI: C1857505
Disease: Club-shaped distal femur
Club-shaped distal femur 		3 0 1 0.20 0 0
CUI: C4022015
Disease: Calcification of cartilage
Calcification of cartilage 		3 0 1 0.20 0 0
CUI: C4022785
Disease: Iron accumulation in substantia nigra
Iron accumulation in substantia nigra 		3 0 1 0.20 0 0
CUI: C0575535
Disease: Thin clavicle
Thin clavicle 		4 0 1 0.17 0 0
CUI: C1563743
Disease: adiposity
adiposity 		4 0 1 0.17 0 0
CUI: C1854417
Disease: Postnatal macrocephaly
Postnatal macrocephaly 		4 0 1 0.17 0 0
CUI: C1855841
Disease: Hypocalcemic seizures
Hypocalcemic seizures 		11 0 2 0.17 0 0
CUI: C4024709
Disease: Transient hypophosphatemia
Transient hypophosphatemia 		4 0 1 0.17 0 0
CUI: C4024745
Disease: Aplasia/Hypoplasia affecting the eye
Aplasia/Hypoplasia affecting the eye 		4 0 1 0.17 0 0
CUI: C0242217
Disease: Calcium Pyrophosphate Dihydrate Deposition
Calcium Pyrophosphate Dihydrate Deposition 		5 0 1 0.14 0 0
CUI: C0856830
Disease: Calcium pyrophosphate arthropathy
Calcium pyrophosphate arthropathy 		5 0 1 0.14 0 0
CUI: C0424939
Disease: Learning difficulties
Learning difficulties 		6 0 1 0.12 0 0
CUI: C1840418
Disease: Thickened cortex of long bones
Thickened cortex of long bones 		6 0 1 0.12 0 0
CUI: C0027429
Disease: Nasal obstruction present finding
Nasal obstruction present finding 		7 0 1 0.11 0 0
CUI: C1855895
Disease: Erlenmeyer flask deformity of the femurs
Erlenmeyer flask deformity of the femurs 		7 0 1 0.11 0 0
CUI: C1851714
Disease: Sclerosis of skull base
Sclerosis of skull base 		8 0 1 1.0E-01 0 0
CUI: C2675746
Disease: CRANIODIAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT (disorder)
CRANIODIAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT (disorder) 		8 0 1 1.0E-01 0 0
CUI: C1855843
Disease: Severe intrauterine growth retardation
Severe intrauterine growth retardation 		9 0 1 9.1E-02 0 0
CUI: C3840083
Disease: Late closure of anterior fontanel
Late closure of anterior fontanel 		21 0 2 9.1E-02 0 0
CUI: C0282631
Disease: Facies
Facies 		10 0 1 8.3E-02 0 0
CUI: C0426808
Disease: Long clavicle
Long clavicle 		10 0 1 8.3E-02 0 0
CUI: C0432073
Disease: Defect of skull ossification
Defect of skull ossification 		23 0 2 8.3E-02 0 0
CUI: C0524730
Disease: Odontome
Odontome 		10 0 1 8.3E-02 0 0
CUI: C4025750
Disease: Abnormality of the nasopharynx
Abnormality of the nasopharynx 		10 0 1 8.3E-02 0 0