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: C0016049
Disease: Fibromatosis, Gingival
Fibromatosis, Gingival 		1 0 1 1.00 0 0
CUI: C0037293
Disease: Skin tag
Skin tag 		1 1 1 1.00 1 1.00
CUI: C0836924
Disease: Thrombocytosis
Thrombocytosis 		1 1 1 1.00 1 1.00
CUI: C1833326
Disease: Generalized bone demineralization
Generalized bone demineralization 		1 1 1 1.00 1 1.00
CUI: C2745948
Disease: Hyalinosis, Systemic
Hyalinosis, Systemic 		1 12 1 1.00 1 8.3E-02
CUI: C0023518
Disease: Leukocytosis
Leukocytosis 		2 2 1 0.50 1 0.50
CUI: C1859212
Disease: Limited neck range of motion
Limited neck range of motion 		2 2 1 0.50 1 0.50
CUI: C4023528
Disease: Abnormality of skin morphology
Abnormality of skin morphology 		2 2 1 0.50 1 0.50
CUI: C4538570
Disease: COMPLEMENT HYPERACTIVATION, ANGIOPATHIC THROMBOSIS, AND PROTEIN-LOSING ENTEROPATHY
COMPLEMENT HYPERACTIVATION, ANGIOPATHIC THROMBOSIS, AND PROTEIN-LOSING ENTEROPATHY 		2 6 1 0.50 1 0.17
CUI: C1842083
Disease: Abnormality of the ribs
Abnormality of the ribs 		3 5 1 0.33 1 0.20
CUI: C0376480
Disease: Gingival Overgrowth
Gingival Overgrowth 		4 5 1 0.25 1 0.20
CUI: C1260926
Disease: Abnormal pigmentation
Abnormal pigmentation 		4 5 1 0.25 1 0.20
CUI: C1846423
Disease: Thick upper lip vermilion
Thick upper lip vermilion 		4 4 1 0.25 1 0.25
CUI: C1839739
Disease: Thick lower lip vermilion
Thick lower lip vermilion 		5 10 1 0.20 1 1.0E-01
CUI: C1298820
Disease: Aneurysm of aortic root
Aneurysm of aortic root 		9 15 1 0.11 1 6.7E-02
CUI: C1849340
Disease: Long palpebral fissure
Long palpebral fissure 		9 10 1 0.11 1 1.0E-01
CUI: C0006157
Disease: Breech Presentation
Breech Presentation 		10 11 1 1.0E-01 1 9.1E-02
CUI: C0409338
Disease: Flexion contracture - elbow
Flexion contracture - elbow 		10 14 1 1.0E-01 1 7.1E-02
CUI: C1142533
Disease: Smooth philtrum
Smooth philtrum 		10 10 1 1.0E-01 1 1.0E-01
CUI: C0003862
Disease: Arthralgia
Arthralgia 		12 0 1 8.3E-02 0 0
CUI: C1844806
Disease: Weight less than 3rd percentile
Weight less than 3rd percentile 		22 27 1 4.5E-02 1 3.7E-02
CUI: C0029453
Disease: Osteopenia
Osteopenia 		23 23 1 4.3E-02 1 4.3E-02
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		25 33 1 4.0E-02 1 3.0E-02
CUI: C1840077
Disease: Anteverted nostril
Anteverted nostril 		30 35 1 3.3E-02 1 2.9E-02
CUI: C1836542
Disease: Depressed nasal bridge
Depressed nasal bridge 		31 39 1 3.2E-02 1 2.6E-02