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: C4479357
Disease: ANAUXETIC DYSPLASIA 2
ANAUXETIC DYSPLASIA 2 		2 0 2 1.00 0 0
CUI: C0332885
Disease: Congenital stenosis
Congenital stenosis 		1 0 1 0.50 0 0
CUI: C0877313
Disease: Neonatal neuroblastoma
Neonatal neuroblastoma 		1 0 1 0.50 0 0
CUI: C1707549
Disease: Cutaneous Lymphomatoid Granulomatosis
Cutaneous Lymphomatoid Granulomatosis 		1 0 1 0.50 0 0
CUI: C1834821
Disease: METAPHYSEAL DYSPLASIA WITHOUT HYPOTRICHOSIS
METAPHYSEAL DYSPLASIA WITHOUT HYPOTRICHOSIS 		1 3 1 0.50 2 0.11
CUI: C1855205
Disease: Susceptibility to chickenpox
Susceptibility to chickenpox 		1 0 1 0.50 0 0
CUI: C2017869
Disease: sparse facial hair
sparse facial hair 		1 0 1 0.50 0 0
CUI: C4551965
Disease: ANAUXETIC DYSPLASIA 1
ANAUXETIC DYSPLASIA 1 		1 3 1 0.50 2 0.11
CUI: C1855196
Disease: Flaring of lower rib cage
Flaring of lower rib cage 		2 0 1 0.33 0 0
CUI: C4476965
Disease: Absent pubertal growth spurt
Absent pubertal growth spurt 		2 0 1 0.33 0 0
CUI: C1846798
Disease: Cervical subluxation
Cervical subluxation 		3 0 1 0.25 0 0
CUI: C1855171
Disease: Metaphyseal cupping of metacarpals
Metaphyseal cupping of metacarpals 		3 0 1 0.25 0 0
CUI: C1866675
Disease: Biconvex vertebral bodies
Biconvex vertebral bodies 		3 0 1 0.25 0 0
CUI: C0852866
Disease: Cervical cord compression
Cervical cord compression 		4 0 1 0.20 0 0
CUI: C1849034
Disease: Hypoplastic iliac body
Hypoplastic iliac body 		4 0 1 0.20 0 0
CUI: C1856920
Disease: Hypoplasia of the femoral head
Hypoplasia of the femoral head 		4 0 1 0.20 0 0
CUI: C4024745
Disease: Aplasia/Hypoplasia affecting the eye
Aplasia/Hypoplasia affecting the eye 		4 0 1 0.20 0 0
CUI: C4025625
Disease: Impaired lymphocyte transformation with phytohemagglutinin
Impaired lymphocyte transformation with phytohemagglutinin 		4 0 1 0.20 0 0
CUI: C1832598
Disease: Narrow vertebral interpedicular distance
Narrow vertebral interpedicular distance 		6 0 1 0.14 0 0
CUI: C1859335
Disease: Thoracolumbar kyphoscoliosis
Thoracolumbar kyphoscoliosis 		6 0 1 0.14 0 0
CUI: C0949116
Disease: Congenital hypoplastic anemia
Congenital hypoplastic anemia 		8 0 1 0.11 0 0
CUI: C4020966
Disease: Abnormally ossified vertebrae
Abnormally ossified vertebrae 		8 0 1 0.11 0 0
CUI: C4024726
Disease: Mucopolysacchariduria
Mucopolysacchariduria 		8 0 1 0.11 0 0
CUI: C0268146
Disease: Glucose-6-phosphate transport defect
Glucose-6-phosphate transport defect 		9 0 1 1.0E-01 0 0
CUI: C1854718
Disease: J-shaped sella turcica
J-shaped sella turcica 		10 0 1 9.1E-02 0 0