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: C4012968
Disease: Mild global developmental delay
Mild global developmental delay 		36 0 9 0.22 0 0
CUI: C4551474
Disease: Seckel syndrome 1
Seckel syndrome 1 		3 0 3 0.21 0 0
CUI: C1857656
Disease: Prematurely aged appearance
Prematurely aged appearance 		40 0 9 0.20 0 0
CUI: C1865037
Disease: Cone-shaped epiphysis
Cone-shaped epiphysis 		49 0 9 0.17 0 0
CUI: C0240538
Disease: Convex nasal ridge
Convex nasal ridge 		69 0 11 0.15 0 0
CUI: C1840069
Disease: Sandal gap
Sandal gap 		62 0 10 0.15 0 0
CUI: C0265202
Disease: Seckel syndrome
Seckel syndrome 		56 0 9 0.15 0 0
CUI: C0432246
Disease: Microcephalic Osteodysplastic Primordial Dwarfism, Type II
Microcephalic Osteodysplastic Primordial Dwarfism, Type II 		2 0 2 0.14 0 0
CUI: C1847572
Disease: SECKEL SYNDROME 2
SECKEL SYNDROME 2 		2 0 2 0.14 0 0
CUI: C3151187
Disease: SECKEL SYNDROME 5
SECKEL SYNDROME 5 		2 0 2 0.14 0 0
CUI: C4024202
Disease: Reduced number of teeth
Reduced number of teeth 		67 0 10 0.14 0 0
CUI: C1851792
Disease: Aplasia/Hypoplasia of the earlobes
Aplasia/Hypoplasia of the earlobes 		11 0 3 0.14 0 0
CUI: C0431350
Disease: Primary microcephaly
Primary microcephaly 		39 0 6 0.13 0 0
CUI: C1838608
Disease: Radial aplasia
Radial aplasia 		4 0 2 0.12 0 0
CUI: C1857042
Disease: Sparse scalp hair
Sparse scalp hair 		85 0 11 0.12 0 0
CUI: C0342573
Disease: PITUITARY DWARFISM I
PITUITARY DWARFISM I 		25 0 4 0.11 0 0
CUI: C1837463
Disease: Narrow face
Narrow face 		87 0 10 0.11 0 0
CUI: C2749675
Disease: Cortical gyral simplification
Cortical gyral simplification 		39 0 5 0.10 0 0
CUI: C1970308
Disease: Selective tooth agenesis
Selective tooth agenesis 		8 0 2 1.0E-01 0 0
CUI: C0347915
Disease: Congenital malformation syndromes associated with short stature
Congenital malformation syndromes associated with short stature 		9 0 2 9.5E-02 0 0
CUI: C1855843
Disease: Severe intrauterine growth retardation
Severe intrauterine growth retardation 		9 0 2 9.5E-02 0 0
CUI: C3711387
Disease: Autosomal Recessive Primary Microcephaly
Autosomal Recessive Primary Microcephaly 		33 0 4 9.3E-02 0 0
CUI: C1836646
Disease: Dermal translucency
Dermal translucency 		10 0 2 9.1E-02 0 0
CUI: C4021800
Disease: Abnormality of dental enamel
Abnormality of dental enamel 		96 0 9 8.9E-02 0 0
CUI: C1837761
Disease: Narrow nasal ridge
Narrow nasal ridge 		11 0 2 8.7E-02 0 0