Source: CLINVAR ×
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: C0541764
Disease: Delayed bone age
Delayed bone age 		10 14 4 0.14 2 5.9E-02
CUI: C0423110
Disease: Downward slant of palpebral fissure
Downward slant of palpebral fissure 		35 49 7 0.14 5 7.6E-02
CUI: C0221358
Disease: Long narrow head
Long narrow head 		19 26 5 0.14 4 9.1E-02
CUI: C0426789
Disease: Short thorax
Short thorax 		3 8 3 0.13 2 7.1E-02
CUI: C1848862
Disease: Miller-McKusick-Malvaux-Syndrome (3M Syndrome)
Miller-McKusick-Malvaux-Syndrome (3M Syndrome) 		3 11 3 0.13 2 6.5E-02
CUI: C1836542
Disease: Depressed nasal bridge
Depressed nasal bridge 		31 39 6 0.12 5 8.9E-02
CUI: C1856121
Disease: Broad eyebrow
Broad eyebrow 		4 4 3 0.12 2 8.3E-02
CUI: C0948187
Disease: Tracheomalacia
Tracheomalacia 		5 5 3 0.12 1 3.8E-02
CUI: C1833144
Disease: Slender long bone
Slender long bone 		5 0 3 0.12 0 0
CUI: C0700292
Disease: Hypoxemia
Hypoxemia 		6 7 3 0.12 2 7.4E-02
CUI: C0264303
Disease: Laryngomalacia
Laryngomalacia 		16 18 4 0.11 2 5.3E-02
CUI: C4022919
Disease: Appendicular hypotonia
Appendicular hypotonia 		7 8 3 0.11 2 7.1E-02
CUI: C3553764
Disease: Joint hyperflexibility
Joint hyperflexibility 		8 12 3 0.11 1 3.0E-02
CUI: C0520679
Disease: Sleep Apnea, Obstructive
Sleep Apnea, Obstructive 		19 23 4 0.11 2 4.7E-02
CUI: C0024003
Disease: Lordosis
Lordosis 		9 15 3 0.10 1 2.8E-02
CUI: C1386048
Disease: Intrauterine retardation
Intrauterine retardation 		41 56 6 0.10 5 6.8E-02
CUI: C0011168
Disease: Deglutition Disorders
Deglutition Disorders 		31 38 5 0.10 3 5.3E-02
CUI: C0240379
Disease: Open mouth (finding)
Open mouth (finding) 		10 11 3 1.0E-01 2 6.5E-02
CUI: C0683322
Disease: Mental impairment
Mental impairment 		10 0 3 1.0E-01 0 0
CUI: C4014430
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21 		11 0 3 9.7E-02 0 0
CUI: C2673410
Disease: Small midface
Small midface 		23 24 4 9.5E-02 2 4.5E-02
CUI: C0009952
Disease: Febrile Convulsions
Febrile Convulsions 		12 17 3 9.4E-02 1 2.6E-02
CUI: C0240543
Disease: Bulbous nose
Bulbous nose 		12 13 3 9.4E-02 1 2.9E-02
CUI: C1837249
Disease: Malformations of Cortical Development, Group II
Malformations of Cortical Development, Group II 		12 97 3 9.4E-02 1 8.5E-03
CUI: C1844505
Disease: Pointed chin
Pointed chin 		12 13 3 9.4E-02 1 2.9E-02