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: C0220982
Disease: Ketoacidosis
Ketoacidosis 		1 0 1 0.25 0 0
CUI: C0342792
Disease: Succinyl-CoA:3-oxoacid CoA transferase deficiency
Succinyl-CoA:3-oxoacid CoA transferase deficiency 		1 0 1 0.25 0 0
CUI: C0375536
Disease: Congenital osteodystrophy
Congenital osteodystrophy 		1 0 1 0.25 0 0
CUI: C1291422
Disease: Deficiency of 3-oxoacid CoA-transferase
Deficiency of 3-oxoacid CoA-transferase 		1 0 1 0.25 0 0
CUI: C1851988
Disease: Dorsal subluxation of ulna
Dorsal subluxation of ulna 		1 0 1 0.25 0 0
CUI: C1855276
Disease: Dorsolateral bowed, short radii
Dorsolateral bowed, short radii 		1 0 1 0.25 0 0
CUI: C3809553
Disease: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 6
MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 6 		1 0 1 0.25 0 0
CUI: C4025460
Disease: Broad ulna
Broad ulna 		1 0 1 0.25 0 0
CUI: C4025745
Disease: Abnormal metatarsal morphology
Abnormal metatarsal morphology 		1 0 1 0.25 0 0
CUI: C4551978
Disease: Short forearm
Short forearm 		1 0 1 0.25 0 0
CUI: C4706613
Disease: SHOX-related short stature
SHOX-related short stature 		1 0 1 0.25 0 0
CUI: C1536500
Disease: Deficiency of acetyl-CoA acetyltransferase
Deficiency of acetyl-CoA acetyltransferase 		7 0 2 0.22 0 0
CUI: C0085595
Disease: Body odor
Body odor 		2 0 1 0.20 0 0
CUI: C0342869
Disease: Deficiency of acetyl-CoA acyltransferase (disorder)
Deficiency of acetyl-CoA acyltransferase (disorder) 		2 0 1 0.20 0 0
CUI: C0796021
Disease: Lowry Wood syndrome
Lowry Wood syndrome 		2 0 1 0.20 0 0
CUI: C1304249
Disease: Cutaneous xanthoma
Cutaneous xanthoma 		2 0 1 0.20 0 0
CUI: C1844706
Disease: Rudimentary fibula
Rudimentary fibula 		2 0 1 0.20 0 0
CUI: C1855274
Disease: Mesomelic short stature
Mesomelic short stature 		2 0 1 0.20 0 0
CUI: C1855277
Disease: Shortening of the tibia
Shortening of the tibia 		2 0 1 0.20 0 0
CUI: C1855299
Disease: Forearm undergrowth
Forearm undergrowth 		2 0 1 0.20 0 0
CUI: C1855478
Disease: Increased carrying angle
Increased carrying angle 		2 0 1 0.20 0 0
CUI: C4022764
Disease: Abnormal metabolic brain imaging by MRS
Abnormal metabolic brain imaging by MRS 		2 0 1 0.20 0 0
CUI: C4554061
Disease: Body Odor, CTCAE
Body Odor, CTCAE 		2 0 1 0.20 0 0
CUI: C0410536
Disease: Mesomelic dysplasia
Mesomelic dysplasia 		3 0 1 0.17 0 0
CUI: C1840088
Disease: Limited wrist movement
Limited wrist movement 		3 0 1 0.17 0 0