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: C1802395
Disease: Congenital muscular hypertrophy-cerebral syndrome
Congenital muscular hypertrophy-cerebral syndrome 		5 0 5 1.00 0 0
CUI: C4551851
Disease: Cornelia de Lange Syndrome 1
Cornelia de Lange Syndrome 1 		8 0 5 0.62 0 0
CUI: C0271007
Disease: Phthisis bulbi
Phthisis bulbi 		11 0 4 0.33 0 0
CUI: C1849510
Disease: Prenatal movement abnormality
Prenatal movement abnormality 		11 0 4 0.33 0 0
CUI: C1854630
Disease: Growth Deficiency and Mental Retardation with Facial Dysmorphism
Growth Deficiency and Mental Retardation with Facial Dysmorphism 		4 42 2 0.29 1 1.6E-02
CUI: C4023915
Disease: Abnormally low-pitched voice
Abnormally low-pitched voice 		14 0 4 0.27 0 0
CUI: C2673670
Disease: Curly eyelashes
Curly eyelashes 		15 0 4 0.25 0 0
CUI: C1849311
Disease: Short 1st metacarpal
Short 1st metacarpal 		18 0 4 0.21 0 0
CUI: C0266177
Disease: Megaduodenum
Megaduodenum 		1 0 1 0.20 0 0
CUI: C0741918
Disease: Structural cardiac defects
Structural cardiac defects 		1 0 1 0.20 0 0
CUI: C1849164
Disease: Long, smooth philtrum
Long, smooth philtrum 		1 0 1 0.20 0 0
CUI: C1855286
Disease: Long curly eyelashes
Long curly eyelashes 		1 0 1 0.20 0 0
CUI: C2750805
Disease: Chromosome 5p13 Duplication Syndrome
Chromosome 5p13 Duplication Syndrome 		1 0 1 0.20 0 0
CUI: C3552501
Disease: Talus valgus
Talus valgus 		1 0 1 0.20 0 0
CUI: C4015466
Disease: Bilateral clinodactyly
Bilateral clinodactyly 		1 0 1 0.20 0 0
CUI: C4531263
Disease: Abnormal incisura morphology
Abnormal incisura morphology 		1 0 1 0.20 0 0
CUI: C3887496
Disease: Oligodactyly
Oligodactyly 		20 0 4 0.19 0 0
CUI: C0031575
Disease: Phocomelia
Phocomelia 		9 0 2 0.17 0 0
CUI: C3807131
Disease: Reduced renal corticomedullary differentiation
Reduced renal corticomedullary differentiation 		2 0 1 0.17 0 0
CUI: C4021695
Disease: Hypoplastic radial head
Hypoplastic radial head 		2 0 1 0.17 0 0
CUI: C4025234
Disease: Duplication of internal organs
Duplication of internal organs 		2 0 1 0.17 0 0
CUI: C4521563
Disease: SPINOCEREBELLAR ATAXIA 44
SPINOCEREBELLAR ATAXIA 44 		2 0 1 0.17 0 0
CUI: C0023466
Disease: Leukemia, Monocytic, Chronic
Leukemia, Monocytic, Chronic 		18 0 3 0.15 0 0
CUI: C0728895
Disease: Absent finger
Absent finger 		26 0 4 0.15 0 0
CUI: C0155536
Disease: Paracousis
Paracousis 		3 0 1 0.14 0 0