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: C0085666
Disease: Spider nevus
Spider nevus 		0 2 0 0 1 7.7E-02
CUI: C1282365
Disease: Mixed type cataract
Mixed type cataract 		0 1 0 0 1 8.3E-02
CUI: C1290073
Disease: Acute mucositis
Acute mucositis 		0 1 0 0 1 8.3E-02
CUI: C1836440
Disease: Increased serum lactate
Increased serum lactate 		169 0 1 1.7E-03 0 0
CUI: C2267233
Disease: Neonatal Hypotonia
Neonatal Hypotonia 		169 0 1 1.7E-03 0 0
CUI: C1836038
Disease: Poor head control
Poor head control 		162 0 1 1.7E-03 0 0
CUI: C0476397
Disease: Electroretinogram abnormal
Electroretinogram abnormal 		158 0 1 1.7E-03 0 0
CUI: C0234632
Disease: Reduced visual acuity
Reduced visual acuity 		147 0 1 1.8E-03 0 0
CUI: C0231686
Disease: Gait, Unsteady
Gait, Unsteady 		143 0 1 1.8E-03 0 0
CUI: C0162701
Disease: Polysomnography
Polysomnography 		119 0 1 1.9E-03 0 0
CUI: C0426790
Disease: Narrow thorax
Narrow thorax 		112 0 1 1.9E-03 0 0
CUI: C4021786
Disease: Atypical scarring of skin
Atypical scarring of skin 		101 0 1 1.9E-03 0 0
CUI: C0428568
Disease: Fasting blood glucose measurement
Fasting blood glucose measurement 		96 0 1 1.9E-03 0 0
CUI: C0850703
Disease: Frequent falls
Frequent falls 		94 0 1 1.9E-03 0 0
CUI: C1263857
Disease: Peripheral axonal neuropathy
Peripheral axonal neuropathy 		94 0 1 1.9E-03 0 0
CUI: C0005893
Disease: Body mass index procedure
Body mass index procedure 		88 0 1 2.0E-03 0 0
CUI: C0578022
Disease: Finding of body mass index
Finding of body mass index 		88 0 1 2.0E-03 0 0
CUI: C1837463
Disease: Narrow face
Narrow face 		87 0 1 2.0E-03 0 0
CUI: C4024818
Disease: Progressive night blindness
Progressive night blindness 		87 0 1 2.0E-03 0 0
CUI: C1847584
Disease: Distal sensory impairment
Distal sensory impairment 		86 0 1 2.0E-03 0 0
CUI: C0002418
Disease: Amblyopia
Amblyopia 		85 0 1 2.0E-03 0 0
CUI: C0220981
Disease: Metabolic acidosis
Metabolic acidosis 		85 0 1 2.0E-03 0 0
CUI: C3806467
Disease: Respiratory insufficiency due to muscle weakness
Respiratory insufficiency due to muscle weakness 		85 0 1 2.0E-03 0 0
CUI: C0431371
Disease: Absence of septum pellucidum
Absence of septum pellucidum 		84 0 1 2.0E-03 0 0
CUI: C1853241
Disease: Flat face
Flat face 		83 0 1 2.0E-03 0 0