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: C0375536
Disease: Congenital osteodystrophy
Congenital osteodystrophy 		1 0 1 1.00 0 0
CUI: C1851988
Disease: Dorsal subluxation of ulna
Dorsal subluxation of ulna 		1 0 1 1.00 0 0
CUI: C4025460
Disease: Broad ulna
Broad ulna 		1 0 1 1.00 0 0
CUI: C4025745
Disease: Abnormal metatarsal morphology
Abnormal metatarsal morphology 		1 0 1 1.00 0 0
CUI: C4551978
Disease: Short forearm
Short forearm 		1 0 1 1.00 0 0
CUI: C4706613
Disease: SHOX-related short stature
SHOX-related short stature 		1 0 1 1.00 0 0
CUI: C0796021
Disease: Lowry Wood syndrome
Lowry Wood syndrome 		2 0 1 0.50 0 0
CUI: C1844706
Disease: Rudimentary fibula
Rudimentary fibula 		2 0 1 0.50 0 0
CUI: C1855274
Disease: Mesomelic short stature
Mesomelic short stature 		2 0 1 0.50 0 0
CUI: C1855277
Disease: Shortening of the tibia
Shortening of the tibia 		2 0 1 0.50 0 0
CUI: C1855299
Disease: Forearm undergrowth
Forearm undergrowth 		2 0 1 0.50 0 0
CUI: C1855478
Disease: Increased carrying angle
Increased carrying angle 		2 0 1 0.50 0 0
CUI: C0410536
Disease: Mesomelic dysplasia
Mesomelic dysplasia 		3 0 1 0.33 0 0
CUI: C1840088
Disease: Limited wrist movement
Limited wrist movement 		3 0 1 0.33 0 0
CUI: C1866239
Disease: Mesomelic/rhizomelic limb shortening
Mesomelic/rhizomelic limb shortening 		3 0 1 0.33 0 0
CUI: C1859860
Disease: Episodic ketoacidosis
Episodic ketoacidosis 		4 0 1 0.25 0 0
CUI: C1856732
Disease: Aplasia/Hypoplasia of the fibula
Aplasia/Hypoplasia of the fibula 		5 0 1 0.20 0 0
CUI: C0345371
Disease: Hypoplasia of lower limb
Hypoplasia of lower limb 		6 0 1 0.17 0 0
CUI: C1840535
Disease: Abnormality of the carpal bones
Abnormality of the carpal bones 		6 0 1 0.17 0 0
CUI: C1960539
Disease: Aromatase deficiency
Aromatase deficiency 		6 0 1 0.17 0 0
CUI: C0036868
Disease: Sex Chromosome Aberrations
Sex Chromosome Aberrations 		8 0 1 0.12 0 0
CUI: C0152441
Disease: Madelung Deformity
Madelung Deformity 		8 0 1 0.12 0 0
CUI: C3897045
Disease: Short Stature Homeobox Deficiency
Short Stature Homeobox Deficiency 		8 0 1 0.12 0 0
CUI: C4025692
Disease: Abnormality of calvarial morphology
Abnormality of calvarial morphology 		8 0 1 0.12 0 0
CUI: C2931817
Disease: Chromosome 2q37 deletion syndrome
Chromosome 2q37 deletion syndrome 		9 0 1 0.11 0 0