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: C0342790
Disease: Carnitine palmitoyl transferase 2 deficiency
Carnitine palmitoyl transferase 2 deficiency 		0 29 0 0 1 2.9E-02
CUI: C1861866
Disease: Aplasia/Hypoplasia of the corpus callosum
Aplasia/Hypoplasia of the corpus callosum 		108 0 1 1.0E-03 0 0
CUI: C0554970
Disease: Pallor of optic disc
Pallor of optic disc 		98 0 1 1.0E-03 0 0
CUI: C0431904
Disease: Ulnar polydactyly of fingers
Ulnar polydactyly of fingers 		92 0 1 1.0E-03 0 0
CUI: C0005845
Disease: Blood urea nitrogen measurement
Blood urea nitrogen measurement 		90 0 1 1.0E-03 0 0
CUI: C0003119
Disease: Anophthalmos
Anophthalmos 		89 0 1 1.0E-03 0 0
CUI: C1853241
Disease: Flat face
Flat face 		83 0 1 1.1E-03 0 0
CUI: C0231835
Disease: Tachypnea
Tachypnea 		82 0 1 1.1E-03 0 0
CUI: C0339526
Disease: Autosomal recessive retinitis pigmentosa
Autosomal recessive retinitis pigmentosa 		82 0 1 1.1E-03 0 0
CUI: C0856863
Disease: Broad-based gait
Broad-based gait 		75 0 1 1.1E-03 0 0
CUI: C1839630
Disease: Severe muscular hypotonia
Severe muscular hypotonia 		75 0 1 1.1E-03 0 0
CUI: C1445953
Disease: Poor eye contact
Poor eye contact 		73 0 1 1.1E-03 0 0
CUI: C0022521
Disease: Kartagener Syndrome
Kartagener Syndrome 		67 0 1 1.1E-03 0 0
CUI: C0919677
Disease: Protein C measurement
Protein C measurement 		62 0 1 1.1E-03 0 0
CUI: C1168438
Disease: Protein C antigen measurement
Protein C antigen measurement 		62 0 1 1.1E-03 0 0
CUI: C0220697
Disease: POLYDACTYLY, POSTAXIAL
POLYDACTYLY, POSTAXIAL 		61 0 1 1.1E-03 0 0
CUI: C0009024
Disease: Clonus
Clonus 		60 0 1 1.1E-03 0 0
CUI: C1854418
Disease: Biparietal narrowing
Biparietal narrowing 		60 0 1 1.1E-03 0 0
CUI: C0202177
Disease: Phospholipid measurement
Phospholipid measurement 		58 0 1 1.1E-03 0 0
CUI: C0431659
Disease: Hypoplasia of scrotum
Hypoplasia of scrotum 		57 0 1 1.1E-03 0 0
CUI: C1858036
Disease: Periorbital fullness
Periorbital fullness 		57 0 1 1.1E-03 0 0
CUI: C0266642
Disease: Situs ambiguus
Situs ambiguus 		55 0 1 1.1E-03 0 0
CUI: C0432103
Disease: Submucous cleft of hard palate
Submucous cleft of hard palate 		55 0 1 1.1E-03 0 0
CUI: C1842688
Disease: Hypoplasia of the brainstem
Hypoplasia of the brainstem 		55 0 1 1.1E-03 0 0
CUI: C1853737
Disease: Prominent occiput
Prominent occiput 		53 0 1 1.1E-03 0 0