Associated Disease N. genes N. variants N. of shared genes JI g p-value g N. of shared variants JI v p-value v
Anterior clefting of vertebral bodies
1 0 1 0.14 0 0
CUI: C1849580
Disease: Dysplastic patella
Dysplastic patella
1 0 1 0.14 0 0
CUI: C1850318
Disease: Omodysplasia type 1
Omodysplasia type 1
1 0 1 0.14 0 0
CUI: C1860309
Disease: Chin with H-shaped crease
Chin with H-shaped crease
1 0 1 0.14 0 0
Multiple Pterygium Syndrome, Autosomal Dominant
1 0 1 0.14 0 0
Anterolateral radial head dislocation
1 0 1 0.14 0 0
Micromelic dysplasia, congenital, with dislocation of radius
1 0 1 0.14 0 0
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2Q
1 0 1 0.14 0 0
CUI: C4073207
Disease: Bilateral facial muscle weakness
Bilateral facial muscle weakness
1 0 1 0.14 0 0
EPIDERMOLYSIS BULLOSA SIMPLEX WITH NAIL DYSTROPHY
1 0 1 0.14 0 0
CUI: C4477031
Disease: Axial muscle atrophy
Axial muscle atrophy
1 0 1 0.14 0 0
CUI: C0345996
Disease: Milium Cyst
Milium Cyst
20 0 3 0.12 0 0
CUI: C0406458
Disease: Diffuse alopecia
Diffuse alopecia
2 0 1 0.12 0 0
CUI: C0555970
Disease: Nasal infection
Nasal infection
2 0 1 0.12 0 0
CUI: C1844731
Disease: Hypoplastic nasal tip
Hypoplastic nasal tip
2 0 1 0.12 0 0
CUI: C1850627
Disease: Nasodigitoacoustic syndrome
Nasodigitoacoustic syndrome
2 0 1 0.12 0 0
Skin fragility with non-scarring blistering
2 0 1 0.12 0 0
CUI: C1856954
Disease: Plantar hyperkeratosis
Plantar hyperkeratosis
11 0 2 0.12 0 0
CUI: C1968607
Disease: Hypoplastic distal humeri
Hypoplastic distal humeri
2 0 1 0.12 0 0
CUI: C3810471
Disease: Intercrural pterygium
Intercrural pterygium
2 0 1 0.12 0 0
CUI: C4021830
Disease: Bilateral camptodactyly
Bilateral camptodactyly
2 0 1 0.12 0 0
CUI: C4024679
Disease: Onychogryposis of toenails
Onychogryposis of toenails
2 0 1 0.12 0 0
Proximal upper limb muscle hypertrophy
2 0 1 0.12 0 0
CUI: C0033324
Disease: Prognathism
Prognathism
3 0 1 0.11 0 0
CUI: C0035353
Disease: Congenital retrognathism
Congenital retrognathism
3 0 1 0.11 0 0