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: C0235991
Disease: Small for gestational age (disorder)
Small for gestational age (disorder) 		28 34 10 0.34 11 0.31
CUI: C0740852
Disease: Upper airway obstruction
Upper airway obstruction 		3 3 3 0.27 3 0.23
CUI: C0497202
Disease: Abnormal ocular motility
Abnormal ocular motility 		6 6 3 0.21 1 5.6E-02
CUI: C0024437
Disease: Macular degeneration
Macular degeneration 		7 9 3 0.20 1 4.8E-02
CUI: C0030583
Disease: Parotitis
Parotitis 		2 1 2 0.18 1 7.7E-02
CUI: C0043352
Disease: Xerostomia
Xerostomia 		2 1 2 0.18 1 7.7E-02
CUI: C0232769
Disease: Abnormal gallbladder function
Abnormal gallbladder function 		2 1 2 0.18 1 7.7E-02
CUI: C1837142
Disease: Poor suck
Poor suck 		28 31 6 0.18 8 0.22
CUI: C1842777
Disease: Recurrent upper and lower respiratory tract infections
Recurrent upper and lower respiratory tract infections 		2 2 2 0.18 2 0.15
CUI: C1846059
Disease: Roifman syndrome
Roifman syndrome 		2 7 2 0.18 2 0.11
CUI: C1853249
Disease: SPINOCEREBELLAR ATAXIA 28
SPINOCEREBELLAR ATAXIA 28 		2 9 2 0.18 1 4.8E-02
CUI: C1859452
Disease: MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE I
MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE I 		2 0 2 0.18 0 0
CUI: C3280977
Disease: SPASTIC ATAXIA 5, AUTOSOMAL RECESSIVE
SPASTIC ATAXIA 5, AUTOSOMAL RECESSIVE 		2 0 2 0.18 0 0
CUI: C0017152
Disease: Gastritis
Gastritis 		3 3 2 0.17 2 0.14
CUI: C0375206
Disease: Hemiplegia/hemiparesis
Hemiplegia/hemiparesis 		3 2 2 0.17 1 7.1E-02
CUI: C1855843
Disease: Severe intrauterine growth retardation
Severe intrauterine growth retardation 		3 3 2 0.17 2 0.14
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		3 2 2 0.17 1 7.1E-02
CUI: C4281993
Disease: Neonatal respiratory distress
Neonatal respiratory distress 		31 34 6 0.17 8 0.21
CUI: C0015672
Disease: Fatigue
Fatigue 		18 19 4 0.16 2 6.7E-02
CUI: C0020437
Disease: Hypercalcemia
Hypercalcemia 		4 4 2 0.15 1 6.2E-02
CUI: C0022575
Disease: Keratoconjunctivitis Sicca
Keratoconjunctivitis Sicca 		4 3 2 0.15 1 6.7E-02
CUI: C3489393
Disease: Hiatal Hernia
Hiatal Hernia 		4 3 2 0.15 1 6.7E-02
CUI: C4022983
Disease: Abnormal ciliary motility
Abnormal ciliary motility 		4 5 2 0.15 2 0.12
CUI: C0012569
Disease: Diplopia
Diplopia 		5 5 2 0.14 1 5.9E-02
CUI: C0152020
Disease: Gastroparesis
Gastroparesis 		5 7 2 0.14 2 0.11