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: C0008297
Disease: Choanal Atresia
Choanal Atresia 		104 7 17 0.14 1 0.12
CUI: C0013274
Disease: Patent ductus arteriosus
Patent ductus arteriosus 		510 56 6 1.1E-02 1 1.8E-02
CUI: C0040761
Disease: Transposition of Great Vessels
Transposition of Great Vessels 		61 18 3 3.2E-02 1 5.3E-02
CUI: C0151526
Disease: Premature Birth
Premature Birth 		192 50 16 7.5E-02 1 2.0E-02
CUI: C0239234
Disease: Low set ears
Low set ears 		489 64 13 2.5E-02 1 1.5E-02
CUI: C0265354
Disease: CHARGE Syndrome
CHARGE Syndrome 		49 205 3 3.6E-02 1 4.9E-03
CUI: C0344482
Disease: Hypoplasia of corpus callosum
Hypoplasia of corpus callosum 		385 49 6 1.4E-02 1 2.0E-02
CUI: C0423112
Disease: Short palpebral fissure
Short palpebral fissure 		91 16 3 2.4E-02 1 5.9E-02
CUI: C0424711
Disease: Orbital separation diminished
Orbital separation diminished 		89 11 18 0.17 1 8.3E-02
CUI: C0431371
Disease: Absence of septum pellucidum
Absence of septum pellucidum 		84 2 3 2.5E-02 1 0.33
CUI: C0431478
Disease: Posteriorly rotated ear
Posteriorly rotated ear 		176 23 3 1.4E-02 1 4.2E-02
CUI: C0431659
Disease: Hypoplasia of scrotum
Hypoplasia of scrotum 		57 3 1 1.1E-02 1 0.25
CUI: C1386048
Disease: Intrauterine retardation
Intrauterine retardation 		41 56 1 1.3E-02 1 1.8E-02
CUI: C1563720
Disease: Kallmann Syndrome 2 (disorder)
Kallmann Syndrome 2 (disorder) 		8 45 3 7.1E-02 1 2.2E-02
CUI: C1849211
Disease: Generalized hirsutism
Generalized hirsutism 		113 3 4 2.7E-02 1 0.25
CUI: C1850049
Disease: Clinodactyly of the 5th finger
Clinodactyly of the 5th finger 		284 39 5 1.6E-02 1 2.5E-02
CUI: C3278923
Disease: Dilated ventricles (finding)
Dilated ventricles (finding) 		427 32 10 2.2E-02 1 3.0E-02
CUI: C0000731
Disease: Abdomen distended
Abdomen distended 		103 0 1 7.2E-03 0 0
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality 		1098 0 19 1.7E-02 0 0
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		251 0 6 2.1E-02 0 0
CUI: C0000846
Disease: Agenesis
Agenesis 		161 0 5 2.6E-02 0 0
CUI: C0000889
Disease: Acanthosis Nigricans
Acanthosis Nigricans 		64 0 1 1.0E-02 0 0
CUI: C0001193
Disease: Apert syndrome
Apert syndrome 		20 0 2 3.6E-02 0 0
CUI: C0001339
Disease: Acute pancreatitis
Acute pancreatitis 		435 0 3 6.4E-03 0 0
CUI: C0001418
Disease: Adenocarcinoma
Adenocarcinoma 		2235 0 9 4.0E-03 0 0