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: C0426433
Disease: Pinched nasal tip
Pinched nasal tip 		2 0 2 0.50 0 0
CUI: C2931375
Disease: Temporomandibular ankylosis
Temporomandibular ankylosis 		2 0 2 0.50 0 0
CUI: C4025739
Disease: Acroosteolysis of distal phalanges (feet)
Acroosteolysis of distal phalanges (feet) 		2 0 2 0.50 0 0
CUI: C4551773
Disease: ZIMMERMANN-LABAND SYNDROME 1
ZIMMERMANN-LABAND SYNDROME 1 		2 0 2 0.50 0 0
CUI: C0270254
Disease: Hydrops of placenta
Hydrops of placenta 		3 0 2 0.40 0 0
CUI: C1835384
Disease: Loss of truncal subcutaneous adipose tissue
Loss of truncal subcutaneous adipose tissue 		3 0 2 0.40 0 0
CUI: C1837757
Disease: Progressive clavicular acroosteolysis
Progressive clavicular acroosteolysis 		3 0 2 0.40 0 0
CUI: C1844618
Disease: Aplasia/Hypoplastia of the eccrine sweat glands
Aplasia/Hypoplastia of the eccrine sweat glands 		3 0 2 0.40 0 0
CUI: C1848760
Disease: Increased anterioposterior diameter of thorax
Increased anterioposterior diameter of thorax 		3 0 2 0.40 0 0
CUI: C1848773
Disease: Epidermal hyperkeratosis
Epidermal hyperkeratosis 		3 0 2 0.40 0 0
CUI: C4025270
Disease: Arteriosclerosis of small cerebral arteries
Arteriosclerosis of small cerebral arteries 		3 0 2 0.40 0 0
CUI: C4025825
Disease: Abnormal external genitalia
Abnormal external genitalia 		3 0 2 0.40 0 0
CUI: C0266786
Disease: Short cord
Short cord 		4 0 2 0.33 0 0
CUI: C0406585
Disease: Lethal tight skin contracture syndrome (disorder)
Lethal tight skin contracture syndrome (disorder) 		4 0 2 0.33 0 0
CUI: C0566693
Disease: Large placenta
Large placenta 		4 0 2 0.33 0 0
CUI: C0575535
Disease: Thin clavicle
Thin clavicle 		4 0 2 0.33 0 0
CUI: C1848771
Disease: Prominent superficial blood vessels
Prominent superficial blood vessels 		4 0 2 0.33 0 0
CUI: C1849547
Disease: Osteolytic defects of the distal phalanges of the hand
Osteolytic defects of the distal phalanges of the hand 		4 0 2 0.33 0 0
CUI: C1851808
Disease: Premature delivery because of cervical insufficiency or membrane fragility
Premature delivery because of cervical insufficiency or membrane fragility 		4 0 2 0.33 0 0
CUI: C4023402
Disease: Regional abnormality of skin
Regional abnormality of skin 		4 0 2 0.33 0 0
CUI: C4025078
Disease: Tapering pointed ends of distal finger phalanges
Tapering pointed ends of distal finger phalanges 		4 0 2 0.33 0 0
CUI: C4476724
Disease: Abnormal cellular phenotype
Abnormal cellular phenotype 		4 0 2 0.33 0 0
CUI: C0426811
Disease: Pseudoarthrosis of clavicle
Pseudoarthrosis of clavicle 		5 0 2 0.29 0 0
CUI: C0566694
Disease: Small placenta
Small placenta 		5 0 2 0.29 0 0
CUI: C0860439
Disease: Mottled pigmentation
Mottled pigmentation 		5 0 2 0.29 0 0