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: C0152115
Disease: Lingual-Facial-Buccal Dyskinesia
Lingual-Facial-Buccal Dyskinesia 		0 4 0 0 1 2.7E-03
CUI: C0948392
Disease: Borderline mental impairment
Borderline mental impairment 		0 1 0 0 1 2.7E-03
CUI: C1406659
Disease: Symptomatic epilepsy
Symptomatic epilepsy 		0 9 0 0 1 2.7E-03
CUI: C4694057
Disease: Taq1A POLYMORPHISM
Taq1A POLYMORPHISM 		0 14 0 0 2 5.3E-03
CUI: C0266551
Disease: Congenital coloboma of iris
Congenital coloboma of iris 		148 0 1 2.6E-03 0 0
CUI: C1963094
Disease: Dry Skin, CTCAE
Dry Skin, CTCAE 		137 0 1 2.7E-03 0 0
CUI: C0518015
Disease: Hemoglobin measurement
Hemoglobin measurement 		131 0 1 2.7E-03 0 0
CUI: C0685409
Disease: Congenital Camptodactyly
Congenital Camptodactyly 		123 0 1 2.8E-03 0 0
CUI: C3805574
Disease: Increased fracture rate
Increased fracture rate 		123 0 1 2.8E-03 0 0
CUI: C0221369
Disease: Acquired Camptodactyly
Acquired Camptodactyly 		120 0 1 2.8E-03 0 0
CUI: C0686353
Disease: Muscular Dystrophies, Limb-Girdle
Muscular Dystrophies, Limb-Girdle 		118 0 1 2.8E-03 0 0
CUI: C1837770
Disease: Sparse hair
Sparse hair 		112 0 1 2.9E-03 0 0
CUI: C1609433
Disease: Congenital absence of kidneys syndrome
Congenital absence of kidneys syndrome 		110 0 1 2.9E-03 0 0
CUI: C0240340
Disease: Microdontia (disorder)
Microdontia (disorder) 		109 0 1 2.9E-03 0 0
CUI: C4552100
Disease: Lynch Syndrome
Lynch Syndrome 		103 0 1 3.0E-03 0 0
CUI: C4021786
Disease: Atypical scarring of skin
Atypical scarring of skin 		101 0 1 3.0E-03 0 0
CUI: C1840379
Disease: Cerebellar vermis hypoplasia
Cerebellar vermis hypoplasia 		100 0 1 3.0E-03 0 0
CUI: C4551488
Disease: Bifid uvula
Bifid uvula 		97 0 1 3.0E-03 0 0
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		95 0 1 3.0E-03 0 0
CUI: C0009398
Disease: Color vision defect
Color vision defect 		94 4 1 3.1E-03 2 5.4E-03
CUI: C0423112
Disease: Short palpebral fissure
Short palpebral fissure 		91 0 1 3.1E-03 0 0
CUI: C1847540
Disease: Azoospermia, Nonobstructive
Azoospermia, Nonobstructive 		91 0 1 3.1E-03 0 0
CUI: C0005845
Disease: Blood urea nitrogen measurement
Blood urea nitrogen measurement 		90 0 1 3.1E-03 0 0
CUI: C0424621
Disease: Body Fat Distribution
Body Fat Distribution 		90 0 1 3.1E-03 0 0
CUI: C0424711
Disease: Orbital separation diminished
Orbital separation diminished 		89 0 1 3.1E-03 0 0