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: C0268275
Disease: Tay-Sachs Disease, AB Variant
Tay-Sachs Disease, AB Variant 		0 7 0 0 1 5.3E-02
CUI: C1836038
Disease: Poor head control
Poor head control 		162 0 1 1.2E-03 0 0
CUI: C0266483
Disease: Pachygyria
Pachygyria 		129 0 1 1.2E-03 0 0
CUI: C0013132
Disease: Drooling
Drooling 		95 0 1 1.3E-03 0 0
CUI: C1836543
Disease: Thick vermilion border
Thick vermilion border 		95 0 1 1.3E-03 0 0
CUI: C0423112
Disease: Short palpebral fissure
Short palpebral fissure 		91 0 1 1.3E-03 0 0
CUI: C1167918
Disease: Increased CSF lactate
Increased CSF lactate 		87 0 1 1.3E-03 0 0
CUI: C3806467
Disease: Respiratory insufficiency due to muscle weakness
Respiratory insufficiency due to muscle weakness 		85 0 1 1.3E-03 0 0
CUI: C0431371
Disease: Absence of septum pellucidum
Absence of septum pellucidum 		84 0 1 1.3E-03 0 0
CUI: C0339526
Disease: Autosomal recessive retinitis pigmentosa
Autosomal recessive retinitis pigmentosa 		82 0 1 1.3E-03 0 0
CUI: C1821417
Disease: RESTING HEART RATE
RESTING HEART RATE 		80 0 1 1.3E-03 0 0
CUI: C0018816
Disease: Heart Septal Defects
Heart Septal Defects 		77 0 1 1.3E-03 0 0
CUI: C0241726
Disease: Delayed ability to walk
Delayed ability to walk 		77 0 1 1.3E-03 0 0
CUI: C0158733
Disease: Hand polydactyly
Hand polydactyly 		75 0 1 1.3E-03 0 0
CUI: C1839630
Disease: Severe muscular hypotonia
Severe muscular hypotonia 		75 0 1 1.3E-03 0 0
CUI: C0426415
Disease: Large nose
Large nose 		70 0 1 1.3E-03 0 0
CUI: C0271097
Disease: Usher Syndrome
Usher Syndrome 		68 0 1 1.3E-03 0 0
CUI: C0035227
Disease: Respiratory Function Tests
Respiratory Function Tests 		67 0 1 1.3E-03 0 0
CUI: C1862095
Disease: Bilateral single transverse palmar creases
Bilateral single transverse palmar creases 		65 0 1 1.3E-03 0 0
CUI: C0011053
Disease: Deafness
Deafness 		62 0 1 1.3E-03 0 0
CUI: C0231687
Disease: Spastic gait
Spastic gait 		62 0 1 1.3E-03 0 0
CUI: C1847514
Disease: Postnatal microcephaly
Postnatal microcephaly 		62 0 1 1.3E-03 0 0
CUI: C0158734
Disease: Polydactyly of toes
Polydactyly of toes 		61 0 1 1.3E-03 0 0
CUI: C0263523
Disease: Micronychia (disorder)
Micronychia (disorder) 		60 0 1 1.3E-03 0 0
CUI: C0426817
Disease: Short ribs
Short ribs 		60 0 1 1.3E-03 0 0