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: C2931216
Disease: Tetra-amelia autosomal recessive
Tetra-amelia autosomal recessive 		2 0 2 0.25 0 0
CUI: C2931218
Disease: Tetraamelia multiple malformations
Tetraamelia multiple malformations 		2 0 2 0.25 0 0
CUI: C1866675
Disease: Biconvex vertebral bodies
Biconvex vertebral bodies 		3 0 2 0.22 0 0
CUI: C1859460
Disease: Bowed humerus
Bowed humerus 		4 0 2 0.20 0 0
CUI: C1861218
Disease: Hypoplastic ilia
Hypoplastic ilia 		16 0 4 0.20 0 0
CUI: C4024745
Disease: Aplasia/Hypoplasia affecting the eye
Aplasia/Hypoplasia affecting the eye 		4 0 2 0.20 0 0
CUI: C0409336
Disease: Flexion contracture-shoulder
Flexion contracture-shoulder 		5 0 2 0.18 0 0
CUI: C1837082
Disease: Metaphyseal cupping
Metaphyseal cupping 		13 0 3 0.17 0 0
CUI: C1835473
Disease: Diaphyseal thickening
Diaphyseal thickening 		14 0 3 0.16 0 0
CUI: C4024159
Disease: Aplasia/Hypoplasia involving the nose
Aplasia/Hypoplasia involving the nose 		8 0 2 0.14 0 0
CUI: C4024597
Disease: Aplasia/Hypoplasia involving the pelvis
Aplasia/Hypoplasia involving the pelvis 		8 0 2 0.14 0 0
CUI: C0332885
Disease: Congenital stenosis
Congenital stenosis 		1 0 1 0.12 0 0
CUI: C0426808
Disease: Long clavicle
Long clavicle 		10 0 2 0.12 0 0
CUI: C0432219
Disease: Opsismodysplasia
Opsismodysplasia 		1 0 1 0.12 0 0
CUI: C0748397
Disease: Reynolds syndrome
Reynolds syndrome 		1 0 1 0.12 0 0
CUI: C0854486
Disease: Secretory adenoma of pituitary
Secretory adenoma of pituitary 		1 0 1 0.12 0 0
CUI: C0877313
Disease: Neonatal neuroblastoma
Neonatal neuroblastoma 		1 0 1 0.12 0 0
CUI: C1707549
Disease: Cutaneous Lymphomatoid Granulomatosis
Cutaneous Lymphomatoid Granulomatosis 		1 0 1 0.12 0 0
CUI: C1834821
Disease: METAPHYSEAL DYSPLASIA WITHOUT HYPOTRICHOSIS
METAPHYSEAL DYSPLASIA WITHOUT HYPOTRICHOSIS 		1 0 1 0.12 0 0
CUI: C1848877
Disease: Peripheral pulmonary vessel aplasia
Peripheral pulmonary vessel aplasia 		1 0 1 0.12 0 0
CUI: C1850644
Disease: Anterior bowing of long bones
Anterior bowing of long bones 		1 0 1 0.12 0 0
CUI: C1855205
Disease: Susceptibility to chickenpox
Susceptibility to chickenpox 		1 0 1 0.12 0 0
CUI: C1859120
Disease: Anterior rib punctate calcifications
Anterior rib punctate calcifications 		1 0 1 0.12 0 0
CUI: C1859121
Disease: Sternal punctate calcifications
Sternal punctate calcifications 		1 0 1 0.12 0 0
CUI: C1859458
Disease: Cleft vertebral arch
Cleft vertebral arch 		1 0 1 0.12 0 0