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 0.33 0 0
CUI: C0796046
Disease: Gurrieri Sammito Bellussi syndrome
Gurrieri Sammito Bellussi syndrome 		1 0 1 0.33 0 0
CUI: C1856911
Disease: Ivory epiphyses
Ivory epiphyses 		1 0 1 0.33 0 0
CUI: C1859478
Disease: Hypoplasia of proximal fibula
Hypoplasia of proximal fibula 		1 0 1 0.33 0 0
CUI: C3281203
Disease: CUTANEOUS TELANGIECTASIA AND CANCER SYNDROME, FAMILIAL
CUTANEOUS TELANGIECTASIA AND CANCER SYNDROME, FAMILIAL 		1 0 1 0.33 0 0
CUI: C3502214
Disease: Microcephalic Osteodysplastic Primordial Dwarfism with Tooth Abnormalities
Microcephalic Osteodysplastic Primordial Dwarfism with Tooth Abnormalities 		1 0 1 0.33 0 0
CUI: C3553886
Disease: MICROCEPHALY 9, PRIMARY, AUTOSOMAL RECESSIVE
MICROCEPHALY 9, PRIMARY, AUTOSOMAL RECESSIVE 		1 0 1 0.33 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 0.33 0 0
CUI: C0432246
Disease: Microcephalic Osteodysplastic Primordial Dwarfism, Type II
Microcephalic Osteodysplastic Primordial Dwarfism, Type II 		2 0 1 0.25 0 0
CUI: C1847572
Disease: SECKEL SYNDROME 2
SECKEL SYNDROME 2 		2 0 1 0.25 0 0
CUI: C1858516
Disease: MICROCEPHALY 4, PRIMARY, AUTOSOMAL RECESSIVE
MICROCEPHALY 4, PRIMARY, AUTOSOMAL RECESSIVE 		2 0 1 0.25 0 0
CUI: C1859477
Disease: Hypoplasia of proximal radius
Hypoplasia of proximal radius 		2 0 1 0.25 0 0
CUI: C3151187
Disease: SECKEL SYNDROME 5
SECKEL SYNDROME 5 		2 0 1 0.25 0 0
CUI: C1970308
Disease: Selective tooth agenesis
Selective tooth agenesis 		8 0 2 0.22 0 0
CUI: C1849364
Disease: Absent earlobe
Absent earlobe 		14 0 3 0.21 0 0
CUI: C1859481
Disease: Abnormal finger flexion creases
Abnormal finger flexion creases 		3 0 1 0.20 0 0
CUI: C0796003
Disease: Juberg-Marsidi syndrome
Juberg-Marsidi syndrome 		4 0 1 0.17 0 0
CUI: C1563697
Disease: Chromosome Instability Syndromes
Chromosome Instability Syndromes 		6 0 1 0.12 0 0
CUI: C0043345
Disease: Xeroderma
Xeroderma 		7 0 1 0.11 0 0
CUI: C0268140
Disease: Xeroderma pigmentosum, group F
Xeroderma pigmentosum, group F 		8 0 1 1.0E-01 0 0
CUI: C0410533
Disease: Osteodysplasia
Osteodysplasia 		8 0 1 1.0E-01 0 0
CUI: C1848103
Disease: Narrow pelvis bone
Narrow pelvis bone 		8 0 1 1.0E-01 0 0
CUI: C0347915
Disease: Congenital malformation syndromes associated with short stature
Congenital malformation syndromes associated with short stature 		9 0 1 9.1E-02 0 0
CUI: C1860253
Disease: Pseudoepiphyses of the metacarpals
Pseudoepiphyses of the metacarpals 		9 0 1 9.1E-02 0 0
CUI: C1970431
Disease: PITT-HOPKINS SYNDROME
PITT-HOPKINS SYNDROME 		9 0 1 9.1E-02 0 0