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: C0233514
Disease: Abnormal behavior
Abnormal behavior 		16 19 1 6.2E-02 1 5.3E-02
CUI: C4025701
Disease: Abnormality of the cerebral cortex
Abnormality of the cerebral cortex 		6 8 1 0.17 1 0.12
CUI: C4025724
Disease: Abnormality of the cerebral ventricles
Abnormality of the cerebral ventricles 		4 5 1 0.25 1 0.20
CUI: C0029131
Disease: Abnormality of the optic nerve
Abnormality of the optic nerve 		8 11 1 0.12 1 9.1E-02
CUI: C0235942
Disease: Abnormality of the skull
Abnormality of the skull 		2 9 1 0.50 1 0.11
CUI: C4022765
Disease: Abnormality of the subarachnoid space
Abnormality of the subarachnoid space 		3 4 1 0.33 1 0.25
CUI: C3276611
Disease: Absent or delayed speech development
Absent or delayed speech development 		1 0 1 1.00 0 0
CUI: C1854882
Disease: Absent speech
Absent speech 		46 72 1 2.2E-02 1 1.4E-02
CUI: C1855676
Disease: Aplasia/Hypoplasia of the cerebellar vermis
Aplasia/Hypoplasia of the cerebellar vermis 		2 0 1 0.50 0 0
CUI: C1855650
Disease: Birth length less than 3rd percentile
Birth length less than 3rd percentile 		11 13 1 9.1E-02 1 7.7E-02
CUI: C0856863
Disease: Broad-based gait
Broad-based gait 		19 0 1 5.3E-02 0 0
CUI: C0221263
Disease: Cafe-au-Lait Spots
Cafe-au-Lait Spots 		18 32 1 5.6E-02 1 3.1E-02
CUI: C1850049
Disease: Clinodactyly of the 5th finger
Clinodactyly of the 5th finger 		37 0 1 2.7E-02 0 0
CUI: C0152423
Disease: Congenital small ears
Congenital small ears 		9 11 1 0.11 1 9.1E-02
CUI: C4048268
Disease: Cortical visual impairment
Cortical visual impairment 		21 0 1 4.8E-02 0 0
CUI: C1867114
Disease: Craniofacial disproportion
Craniofacial disproportion 		4 5 1 0.25 1 0.20
CUI: C1834737
Disease: Cutaneous syndactyly of toes
Cutaneous syndactyly of toes 		1 1 1 1.00 1 1.00
CUI: C0231255
Disease: Decreased body mass index
Decreased body mass index 		2 3 1 0.50 1 0.33
CUI: C4023681
Disease: Delayed fine motor development
Delayed fine motor development 		13 13 1 7.7E-02 1 7.7E-02
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		124 192 1 8.1E-03 1 5.2E-03
CUI: C3278923
Disease: Dilated ventricles (finding)
Dilated ventricles (finding) 		30 32 1 3.3E-02 1 3.1E-02
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		88 106 1 1.1E-02 1 9.4E-03
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		335 0 1 3.0E-03 0 0
CUI: C1853377
Disease: Enlarged cisterna magna
Enlarged cisterna magna 		4 0 1 0.25 0 0
CUI: C0454641
Disease: Expressive language delay
Expressive language delay 		16 25 1 6.2E-02 1 4.0E-02