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: C0428465
Disease: Serum lipids high (finding)
Serum lipids high (finding) 		7 7 2 1.2E-02 3 5.3E-02
CUI: C1837084
Disease: Short metacarpal
Short metacarpal 		66 7 3 1.3E-02 2 3.4E-02
CUI: C0266295
Disease: Congenital hypoplasia of kidney
Congenital hypoplasia of kidney 		96 8 4 1.6E-02 2 3.4E-02
CUI: C1184923
Disease: Lumbar hyperlordosis
Lumbar hyperlordosis 		92 8 6 2.4E-02 2 3.4E-02
CUI: C0085271
Disease: Self-Injurious Behavior
Self-Injurious Behavior 		91 9 1 4.0E-03 2 3.3E-02
CUI: C0000889
Disease: Acanthosis Nigricans
Acanthosis Nigricans 		64 11 24 0.12 2 3.2E-02
CUI: C0262444
Disease: Abnormality of the dentition
Abnormality of the dentition 		140 16 5 1.7E-02 2 3.0E-02
CUI: C1281901
Disease: Fatty acid measurement
Fatty acid measurement 		50 116 1 4.7E-03 4 2.4E-02
CUI: C2711227
Disease: Steatohepatitis
Steatohepatitis 		1143 75 98 8.1E-02 3 2.4E-02
CUI: C0221357
Disease: Brachydactyly
Brachydactyly 		325 43 8 1.7E-02 2 2.1E-02
CUI: C0332573
Disease: Macule
Macule 		31 2 2 1.0E-02 1 1.9E-02
CUI: C4023689
Disease: Abnormality of copper homeostasis
Abnormality of copper homeostasis 		3 2 1 6.1E-03 1 1.9E-02
CUI: C0545053
Disease: Advanced bone age
Advanced bone age 		64 4 15 7.1E-02 1 1.8E-02
CUI: C0685707
Disease: Muscular ventricular septum defect
Muscular ventricular septum defect 		9 4 1 5.9E-03 1 1.8E-02
CUI: C1854408
Disease: Glabellar hemangioma
Glabellar hemangioma 		6 4 1 6.0E-03 1 1.8E-02
CUI: C1855670
Disease: Abnormal cornea morphology
Abnormal cornea morphology 		9 4 1 5.9E-03 1 1.8E-02
CUI: C4021959
Disease: Round ear
Round ear 		10 4 1 5.8E-03 1 1.8E-02
CUI: C0410528
Disease: Skeletal dysplasia
Skeletal dysplasia 		186 65 6 1.8E-02 2 1.7E-02
CUI: C4310672
Disease: SHASHI-PENA SYNDROME
SHASHI-PENA SYNDROME 		1 6 1 6.2E-03 1 1.7E-02
CUI: C1845447
Disease: Cupped ears (finding)
Cupped ears (finding) 		45 7 1 4.9E-03 1 1.7E-02
CUI: C4310689
Disease: SHORT STATURE, BRACHYDACTYLY, INTELLECTUAL DEVELOPMENTAL DISABILITY, AND SEIZURES
SHORT STATURE, BRACHYDACTYLY, INTELLECTUAL DEVELOPMENTAL DISABILITY, AND SEIZURES 		1 8 1 6.2E-03 1 1.7E-02
CUI: C1848701
Disease: Elevated hepatic transaminase
Elevated hepatic transaminase 		212 9 18 5.1E-02 1 1.6E-02
CUI: C0206733
Disease: Strawberry nevus of skin
Strawberry nevus of skin 		112 10 8 3.0E-02 1 1.6E-02
CUI: C0235752
Disease: Port-Wine Stain
Port-Wine Stain 		46 10 1 4.8E-03 1 1.6E-02
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability 		429 74 11 1.9E-02 2 1.6E-02