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: C0423110
Disease: Downward slant of palpebral fissure
Downward slant of palpebral fissure 		35 49 19 5.4E-02 6 9.2E-03
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified 		63 92 20 5.3E-02 2 2.9E-03
CUI: C1840077
Disease: Anteverted nostril
Anteverted nostril 		30 35 18 5.2E-02 1 1.6E-03
CUI: C0014877
Disease: Esotropia
Esotropia 		33 38 18 5.1E-02 2 3.1E-03
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability 		43 62 18 5.0E-02 3 4.5E-03
CUI: C0232466
Disease: Feeding difficulties
Feeding difficulties 		45 62 18 5.0E-02 2 3.0E-03
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		37 49 17 4.8E-02 2 3.0E-03
CUI: C0037317
Disease: Sleep disturbances
Sleep disturbances 		37 0 17 4.8E-02 0 0
CUI: C4021085
Disease: Abnormality of brain morphology
Abnormality of brain morphology 		103 131 20 4.8E-02 2 2.7E-03
CUI: C1263846
Disease: Attention deficit hyperactivity disorder
Attention deficit hyperactivity disorder 		39 51 17 4.8E-02 1 1.5E-03
CUI: C0009806
Disease: Constipation
Constipation 		40 49 17 4.7E-02 2 3.0E-03
CUI: C0240635
Disease: Byzanthine arch palate
Byzanthine arch palate 		46 66 17 4.7E-02 2 3.0E-03
CUI: C1849367
Disease: Nasal bridge wide
Nasal bridge wide 		26 0 16 4.6E-02 0 0
CUI: C0025362
Disease: Mental Retardation
Mental Retardation 		28 0 16 4.6E-02 0 0
CUI: C0016202
Disease: Flatfoot
Flatfoot 		30 38 16 4.6E-02 1 1.5E-03
CUI: C1836542
Disease: Depressed nasal bridge
Depressed nasal bridge 		31 39 16 4.6E-02 4 6.2E-03
CUI: C0010417
Disease: Cryptorchidism
Cryptorchidism 		35 47 16 4.5E-02 2 3.0E-03
CUI: C0151526
Disease: Premature Birth
Premature Birth 		35 40 16 4.5E-02 3 4.6E-03
CUI: C2673410
Disease: Small midface
Small midface 		23 24 15 4.4E-02 1 1.6E-03
CUI: C4317146
Disease: Acid reflux
Acid reflux 		50 58 16 4.3E-02 3 4.5E-03
CUI: C0678230
Disease: Congenital Epicanthus
Congenital Epicanthus 		29 0 15 4.3E-02 0 0
CUI: C0221357
Disease: Brachydactyly
Brachydactyly 		30 39 15 4.3E-02 1 1.5E-03
CUI: C0026106
Disease: Mild Mental Retardation
Mild Mental Retardation 		39 48 15 4.2E-02 1 1.5E-03
CUI: C1836830
Disease: Developmental regression
Developmental regression 		39 0 15 4.2E-02 0 0
CUI: C1837658
Disease: Gross motor development delay
Gross motor development delay 		39 59 15 4.2E-02 1 1.5E-03