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: C1848473
Disease: Whistling appearance
Whistling appearance 		1 0 1 1.00 0 0
CUI: C1860309
Disease: Chin with H-shaped crease
Chin with H-shaped crease 		1 0 1 1.00 0 0
CUI: C1867440
Disease: Multiple Pterygium Syndrome, Autosomal Dominant
Multiple Pterygium Syndrome, Autosomal Dominant 		1 12 1 1.00 2 0.17
CUI: C1849575
Disease: Absence of labia majora
Absence of labia majora 		2 0 1 0.50 0 0
CUI: C4021073
Disease: Morphological abnormality of the gastrointestinal tract
Morphological abnormality of the gastrointestinal tract 		2 0 1 0.50 0 0
CUI: C0033324
Disease: Prognathism
Prognathism 		3 0 1 0.33 0 0
CUI: C0035353
Disease: Congenital retrognathism
Congenital retrognathism 		3 0 1 0.33 0 0
CUI: C1867006
Disease: Restricted neck movement due to contractures
Restricted neck movement due to contractures 		3 0 1 0.33 0 0
CUI: C1867439
Disease: Pterygium, Antecubital
Pterygium, Antecubital 		3 0 1 0.33 0 0
CUI: C3887851
Disease: Basilar invagination
Basilar invagination 		3 0 1 0.33 0 0
CUI: C1867448
Disease: Multiple pterygia
Multiple pterygia 		4 0 1 0.25 0 0
CUI: C0409336
Disease: Flexion contracture-shoulder
Flexion contracture-shoulder 		5 0 1 0.20 0 0
CUI: C1852085
Disease: Digitotalar Dysmorphism
Digitotalar Dysmorphism 		6 0 1 0.17 0 0
CUI: C3805420
Disease: Popliteal pterygium
Popliteal pterygium 		6 0 1 0.17 0 0
CUI: C1844738
Disease: Axillary pterygium
Axillary pterygium 		7 0 1 0.14 0 0
CUI: C0220662
Disease: ARTHROGRYPOSIS, DISTAL, TYPE 1
ARTHROGRYPOSIS, DISTAL, TYPE 1 		9 0 1 0.11 0 0
CUI: C0265261
Disease: Multiple pterygium syndrome
Multiple pterygium syndrome 		9 0 1 0.11 0 0
CUI: C4021262
Disease: Absent palmar crease
Absent palmar crease 		9 0 1 0.11 0 0
CUI: C1406835
Disease: Flexion contracture of toe
Flexion contracture of toe 		10 0 1 1.0E-01 0 0
CUI: C4021959
Disease: Round ear
Round ear 		10 0 1 1.0E-01 0 0
CUI: C0522216
Disease: Abnormal auditory evoked potential
Abnormal auditory evoked potential 		11 0 1 9.1E-02 0 0
CUI: C1849510
Disease: Prenatal movement abnormality
Prenatal movement abnormality 		11 0 1 9.1E-02 0 0
CUI: C4048199
Disease: Ulnar deviation of the hand or of fingers of the hand
Ulnar deviation of the hand or of fingers of the hand 		11 0 1 9.1E-02 0 0
CUI: C0022738
Disease: Klippel-Feil Syndrome
Klippel-Feil Syndrome 		12 0 1 8.3E-02 0 0
CUI: C4021390
Disease: Symphalangism affecting the phalanges of the hand
Symphalangism affecting the phalanges of the hand 		13 0 1 7.7E-02 0 0