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: C0432244
Disease: Osteodysplastic primordial dwarfism
Osteodysplastic primordial dwarfism 		1 0 1 0.50 0 0
CUI: C3502214
Disease: Microcephalic Osteodysplastic Primordial Dwarfism with Tooth Abnormalities
Microcephalic Osteodysplastic Primordial Dwarfism with Tooth Abnormalities 		1 0 1 0.50 0 0
CUI: C4015080
Disease: MICROCEPHALY 13, PRIMARY, AUTOSOMAL RECESSIVE
MICROCEPHALY 13, PRIMARY, AUTOSOMAL RECESSIVE 		1 0 1 0.50 0 0
CUI: C4024886
Disease: Areas of hypopigmentation and hyperpigmentation that do not follow Blaschko lines
Areas of hypopigmentation and hyperpigmentation that do not follow Blaschko lines 		1 0 1 0.50 0 0
CUI: C1847572
Disease: SECKEL SYNDROME 2
SECKEL SYNDROME 2 		2 0 1 0.33 0 0
CUI: C4551474
Disease: Seckel syndrome 1
Seckel syndrome 1 		3 0 1 0.25 0 0
CUI: C1849364
Disease: Absent earlobe
Absent earlobe 		14 0 2 0.14 0 0
CUI: C3552526
Disease: Metaphyseal sclerosis
Metaphyseal sclerosis 		7 0 1 0.12 0 0
CUI: C0410533
Disease: Osteodysplasia
Osteodysplasia 		8 0 1 0.11 0 0
CUI: C1848103
Disease: Narrow pelvis bone
Narrow pelvis bone 		8 0 1 0.11 0 0
CUI: C1860253
Disease: Pseudoepiphyses of the metacarpals
Pseudoepiphyses of the metacarpals 		9 0 1 1.0E-01 0 0
CUI: C4023169
Disease: Moyamoya phenomenon
Moyamoya phenomenon 		10 0 1 9.1E-02 0 0
CUI: C1851792
Disease: Aplasia/Hypoplasia of the earlobes
Aplasia/Hypoplasia of the earlobes 		11 0 1 8.3E-02 0 0
CUI: C1865847
Disease: Ulnar bowing
Ulnar bowing 		12 0 1 7.7E-02 0 0
CUI: C0149887
Disease: Slipped Capital Femoral Epiphyses
Slipped Capital Femoral Epiphyses 		15 0 1 6.2E-02 0 0
CUI: C4021822
Disease: Abnormality of female external genitalia
Abnormality of female external genitalia 		15 0 1 6.2E-02 0 0
CUI: C0038449
Disease: Stricture of artery
Stricture of artery 		16 0 1 5.9E-02 0 0
CUI: C4012968
Disease: Mild global developmental delay
Mild global developmental delay 		36 0 2 5.6E-02 0 0
CUI: C1849311
Disease: Short 1st metacarpal
Short 1st metacarpal 		18 0 1 5.3E-02 0 0
CUI: C1857656
Disease: Prematurely aged appearance
Prematurely aged appearance 		40 0 2 5.0E-02 0 0
CUI: C1859399
Disease: Radial bowing
Radial bowing 		19 0 1 5.0E-02 0 0
CUI: C4024589
Disease: Aplasia/Hypoplasia of the mandible
Aplasia/Hypoplasia of the mandible 		19 0 1 5.0E-02 0 0
CUI: C1865027
Disease: Hypoplastic iliac wing
Hypoplastic iliac wing 		22 0 1 4.3E-02 0 0
CUI: C1865037
Disease: Cone-shaped epiphysis
Cone-shaped epiphysis 		49 0 2 4.1E-02 0 0
CUI: C0342573
Disease: PITUITARY DWARFISM I
PITUITARY DWARFISM I 		25 0 1 3.8E-02 0 0