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: C0031575
Disease: Phocomelia
Phocomelia 		9 0 3 0.18 0 0
CUI: C1305968
Disease: Eccrine dermal cylindroma
Eccrine dermal cylindroma 		12 0 3 0.15 0 0
CUI: C1802395
Disease: Congenital muscular hypertrophy-cerebral syndrome
Congenital muscular hypertrophy-cerebral syndrome 		5 0 2 0.14 0 0
CUI: C1853099
Disease: Cornelia de Lange Syndrome 3
Cornelia de Lange Syndrome 3 		5 0 2 0.14 0 0
CUI: C4551851
Disease: Cornelia de Lange Syndrome 1
Cornelia de Lange Syndrome 1 		8 0 2 0.12 0 0
CUI: C0271007
Disease: Phthisis bulbi
Phthisis bulbi 		11 0 2 1.0E-01 0 0
CUI: C1849510
Disease: Prenatal movement abnormality
Prenatal movement abnormality 		11 0 2 1.0E-01 0 0
CUI: C0431289
Disease: Frontal Encephalocele
Frontal Encephalocele 		1 0 1 9.1E-02 0 0
CUI: C0741918
Disease: Structural cardiac defects
Structural cardiac defects 		1 0 1 9.1E-02 0 0
CUI: C1849164
Disease: Long, smooth philtrum
Long, smooth philtrum 		1 0 1 9.1E-02 0 0
CUI: C1849316
Disease: Premature separation of centromeric heterochromatin
Premature separation of centromeric heterochromatin 		1 0 1 9.1E-02 0 0
CUI: C1849370
Disease: Tetraphocomelia
Tetraphocomelia 		1 0 1 9.1E-02 0 0
CUI: C1855286
Disease: Long curly eyelashes
Long curly eyelashes 		1 0 1 9.1E-02 0 0
CUI: C1862087
Disease: Mesomelic arm shortening
Mesomelic arm shortening 		1 0 1 9.1E-02 0 0
CUI: C2750805
Disease: Chromosome 5p13 Duplication Syndrome
Chromosome 5p13 Duplication Syndrome 		1 0 1 9.1E-02 0 0
CUI: C4015466
Disease: Bilateral clinodactyly
Bilateral clinodactyly 		1 0 1 9.1E-02 0 0
CUI: C4225266
Disease: IMMUNODEFICIENCY 42
IMMUNODEFICIENCY 42 		1 0 1 9.1E-02 0 0
CUI: C4531263
Disease: Abnormal incisura morphology
Abnormal incisura morphology 		1 0 1 9.1E-02 0 0
CUI: C0728895
Disease: Absent finger
Absent finger 		26 0 3 8.8E-02 0 0
CUI: C4023915
Disease: Abnormally low-pitched voice
Abnormally low-pitched voice 		14 0 2 8.7E-02 0 0
CUI: C0276758
Disease: Fusariosis
Fusariosis 		2 0 1 8.3E-02 0 0
CUI: C1849358
Disease: Enlarged labia minora
Enlarged labia minora 		2 0 1 8.3E-02 0 0
CUI: C1849377
Disease: Midface capillary hemangioma
Midface capillary hemangioma 		2 0 1 8.3E-02 0 0
CUI: C2673670
Disease: Curly eyelashes
Curly eyelashes 		15 0 2 8.3E-02 0 0
CUI: C3642304
Disease: Placental Malformation
Placental Malformation 		2 0 1 8.3E-02 0 0