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: C4021025
Disease: Synostosis of carpals/tarsals
Synostosis of carpals/tarsals 		1 0 1 1.00 0 0
CUI: C4310697
Disease: FRONTOMETAPHYSEAL DYSPLASIA 2
FRONTOMETAPHYSEAL DYSPLASIA 2 		1 0 1 1.00 0 0
CUI: C1841685
Disease: Pseudoepiphyses
Pseudoepiphyses 		2 0 1 0.50 0 0
CUI: C4021335
Disease: Short distal phalanx of hallux
Short distal phalanx of hallux 		2 0 1 0.50 0 0
CUI: C4025086
Disease: Irregular metacarpals
Irregular metacarpals 		2 0 1 0.50 0 0
CUI: C1856780
Disease: Posterior vertebral hypoplasia
Posterior vertebral hypoplasia 		3 0 1 0.33 0 0
CUI: C0265293
Disease: Frontometaphyseal dysplasia
Frontometaphyseal dysplasia 		4 0 1 0.25 0 0
CUI: C4021260
Disease: Long metacarpals
Long metacarpals 		4 0 1 0.25 0 0
CUI: C4025056
Disease: Failure of eruption of permanent teeth
Failure of eruption of permanent teeth 		5 0 1 0.20 0 0
CUI: C0240414
Disease: Hypoplasia of muscle
Hypoplasia of muscle 		6 0 1 0.17 0 0
CUI: C1856639
Disease: Absent/hypoplastic paranasal sinuses
Absent/hypoplastic paranasal sinuses 		6 0 1 0.17 0 0
CUI: C1862313
Disease: Short distal phalanx of the thumb
Short distal phalanx of the thumb 		7 0 1 0.14 0 0
CUI: C0410787
Disease: Hereditary Connective Tissue Disorder
Hereditary Connective Tissue Disorder 		9 0 1 0.11 0 0
CUI: C0521618
Disease: Stenosis of ureter
Stenosis of ureter 		10 0 1 1.0E-01 0 0
CUI: C0241521
Disease: Ulnar deviation of hand
Ulnar deviation of hand 		12 0 1 8.3E-02 0 0
CUI: C3887590
Disease: Stricture of ureter
Stricture of ureter 		12 0 1 8.3E-02 0 0
CUI: C0431863
Disease: Carpal synostosis
Carpal synostosis 		15 0 1 6.7E-02 0 0
CUI: C3887527
Disease: Fused cervical vertebrae
Fused cervical vertebrae 		15 0 1 6.7E-02 0 0
CUI: C0238441
Disease: Subglottic stenosis
Subglottic stenosis 		17 0 1 5.9E-02 0 0
CUI: C3541517
Disease: ECTODERMAL DYSPLASIA 11A, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL DOMINANT
ECTODERMAL DYSPLASIA 11A, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL DOMINANT 		18 0 1 5.6E-02 0 0
CUI: C3888065
Disease: ECTODERMAL DYSPLASIA 10A, HYPOHIDROTIC/HAIR/NAIL TYPE, AUTOSOMAL DOMINANT
ECTODERMAL DYSPLASIA 10A, HYPOHIDROTIC/HAIR/NAIL TYPE, AUTOSOMAL DOMINANT 		18 0 1 5.6E-02 0 0
CUI: C0265654
Disease: Tarsal Coalition
Tarsal Coalition 		22 0 1 4.5E-02 0 0
CUI: C1852504
Disease: Misalignment of teeth
Misalignment of teeth 		22 0 1 4.5E-02 0 0
CUI: C1836193
Disease: Synostosis of carpal bones
Synostosis of carpal bones 		23 0 1 4.3E-02 0 0
CUI: C1868085
Disease: Craniofacial hyperostosis
Craniofacial hyperostosis 		25 0 1 4.0E-02 0 0