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: C1834737
Disease: Cutaneous syndactyly of toes
Cutaneous syndactyly of toes 		1 1 1 1.00 1 1.00
CUI: C1837503
Disease: Small cerebral cortex
Small cerebral cortex 		1 1 1 1.00 1 1.00
CUI: C1860475
Disease: Retinal vascular tortuosity
Retinal vascular tortuosity 		1 1 1 1.00 1 1.00
CUI: C1968537
Disease: Severe speech delay
Severe speech delay 		1 0 1 1.00 0 0
CUI: C3276611
Disease: Absent or delayed speech development
Absent or delayed speech development 		1 0 1 1.00 0 0
CUI: C3279839
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 7
MENTAL RETARDATION, AUTOSOMAL DOMINANT 7 		1 39 1 1.00 1 2.6E-02
CUI: C4022561
Disease: Maternal first trimester fever
Maternal first trimester fever 		1 1 1 1.00 1 1.00
CUI: C4022733
Disease: Widened cerebral subarachnoid space
Widened cerebral subarachnoid space 		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: C0235942
Disease: Abnormality of the skull
Abnormality of the skull 		2 9 1 0.50 1 0.11
CUI: C0238397
Disease: Pulmonary artery stenosis
Pulmonary artery stenosis 		2 2 1 0.50 1 0.50
CUI: C1855676
Disease: Aplasia/Hypoplasia of the cerebellar vermis
Aplasia/Hypoplasia of the cerebellar vermis 		2 0 1 0.50 0 0
CUI: C3532933
Disease: Moderate expressive language delay
Moderate expressive language delay 		2 2 1 0.50 1 0.50
CUI: C0432040
Disease: Simple syndactyly of toes, first web space
Simple syndactyly of toes, first web space 		3 3 1 0.33 1 0.33
CUI: C1855843
Disease: Severe intrauterine growth retardation
Severe intrauterine growth retardation 		3 3 1 0.33 1 0.33
CUI: C4022765
Disease: Abnormality of the subarachnoid space
Abnormality of the subarachnoid space 		3 4 1 0.33 1 0.25
CUI: C0454642
Disease: Receptive language delay
Receptive language delay 		4 5 1 0.25 1 0.20
CUI: C1853377
Disease: Enlarged cisterna magna
Enlarged cisterna magna 		4 0 1 0.25 0 0
CUI: C1867114
Disease: Craniofacial disproportion
Craniofacial disproportion 		4 5 1 0.25 1 0.20
CUI: C3532947
Disease: Severe receptive language delay
Severe receptive language delay 		4 4 1 0.25 1 0.25
CUI: C4025724
Disease: Abnormality of the cerebral ventricles
Abnormality of the cerebral ventricles 		4 5 1 0.25 1 0.20
CUI: C0234533
Disease: Generalized seizures
Generalized seizures 		5 0 1 0.20 0 0
CUI: C1834055
Disease: Underdeveloped nasal alae
Underdeveloped nasal alae 		6 0 1 0.17 0 0
CUI: C4025701
Disease: Abnormality of the cerebral cortex
Abnormality of the cerebral cortex 		6 8 1 0.17 1 0.12
CUI: C0024437
Disease: Macular degeneration
Macular degeneration 		7 0 1 0.14 0 0