Source: ALL
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: C3151781
Disease: CK syndrome
CK syndrome 		1 0 1 0.33 0 0
CUI: C4014414
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 24
MENTAL RETARDATION, AUTOSOMAL DOMINANT 24 		1 9 1 0.33 1 0.11
CUI: C4023077
Disease: EEG with central focal spikes
EEG with central focal spikes 		1 2 1 0.33 1 0.50
CUI: C4310683
Disease: DYSKINESIA, SEIZURES, AND INTELLECTUAL DEVELOPMENTAL DISORDER
DYSKINESIA, SEIZURES, AND INTELLECTUAL DEVELOPMENTAL DISORDER 		1 0 1 0.33 0 0
CUI: C4310785
Disease: TRICHOTHIODYSTROPHY 6, NONPHOTOSENSITIVE
TRICHOTHIODYSTROPHY 6, NONPHOTOSENSITIVE 		1 0 1 0.33 0 0
CUI: C0263627
Disease: Calcinosis universalis
Calcinosis universalis 		2 0 1 0.25 0 0
CUI: C0346054
Disease: Verruciform xanthoma of skin
Verruciform xanthoma of skin 		2 0 1 0.25 0 0
CUI: C4025323
Disease: Postauricular skin tag
Postauricular skin tag 		2 1 1 0.25 1 1.00
CUI: C1843146
Disease: Normal interictal EEG
Normal interictal EEG 		4 0 1 0.17 0 0
CUI: C4021631
Disease: Abnormal tracheobronchial morphology
Abnormal tracheobronchial morphology 		4 0 1 0.17 0 0
CUI: C4551464
Disease: Aplasia/hypoplasia of the extremities
Aplasia/hypoplasia of the extremities 		4 0 1 0.17 0 0
CUI: C0031873
Disease: Pica Disease
Pica Disease 		5 0 1 0.14 0 0
CUI: C1844007
Disease: Corticospinal tract hypoplasia
Corticospinal tract hypoplasia 		5 0 1 0.14 0 0
CUI: C0265267
Disease: Congenital Hemidysplasia with Ichthyosiform Erythroderma and Limb Defects
Congenital Hemidysplasia with Ichthyosiform Erythroderma and Limb Defects 		6 0 1 0.12 0 0
CUI: C1969697
Disease: Repetitive compulsive behavior
Repetitive compulsive behavior 		6 0 1 0.12 0 0
CUI: C4022736
Disease: Impaired social reciprocity
Impaired social reciprocity 		6 0 1 0.12 0 0
CUI: C4023792
Disease: Paraplegia/paraparesis
Paraplegia/paraparesis 		6 0 1 0.12 0 0
CUI: C4024892
Disease: Congenital exfoliative erythroderma
Congenital exfoliative erythroderma 		6 0 1 0.12 0 0
CUI: C4732857
Disease: Hypoplasia of mandible relative to maxilla
Hypoplasia of mandible relative to maxilla 		6 0 1 0.12 0 0
CUI: C1844853
Disease: Brachytelephalangic Chondrodysplasia Punctata
Brachytelephalangic Chondrodysplasia Punctata 		7 0 1 0.11 0 0
CUI: C4073178
Disease: Tiger tail banding
Tiger tail banding 		7 0 1 0.11 0 0
CUI: C0263530
Disease: Longitudinal split nail
Longitudinal split nail 		8 0 1 1.0E-01 0 0
CUI: C0423813
Disease: Splits in nails (finding)
Splits in nails (finding) 		8 0 1 1.0E-01 0 0
CUI: C0282102
Disease: Chondrodysplasia punctata, X-linked dominant type
Chondrodysplasia punctata, X-linked dominant type 		9 0 1 9.1E-02 0 0
CUI: C1836933
Disease: Low-set nipples
Low-set nipples 		9 0 1 9.1E-02 0 0