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: C1855840
Disease: HYPOPARATHYROIDISM-RETARDATION-DYSMORPHISM SYNDROME
HYPOPARATHYROIDISM-RETARDATION-DYSMORPHISM SYNDROME 		1 0 1 0.50 0 0
CUI: C4310667
Disease: ENCEPHALOPATHY, PROGRESSIVE, WITH AMYOTROPHY AND OPTIC ATROPHY
ENCEPHALOPATHY, PROGRESSIVE, WITH AMYOTROPHY AND OPTIC ATROPHY 		1 0 1 0.50 0 0
CUI: C1855648
Disease: KENNY-CAFFEY SYNDROME, TYPE 1
KENNY-CAFFEY SYNDROME, TYPE 1 		2 0 1 0.33 0 0
CUI: C4316787
Disease: Kenny-Caffey syndrome, type 2
Kenny-Caffey syndrome, type 2 		2 0 1 0.33 0 0
CUI: C1855657
Disease: Calvarial osteosclerosis
Calvarial osteosclerosis 		3 0 1 0.25 0 0
CUI: C1855845
Disease: Patchy osteosclerosis
Patchy osteosclerosis 		3 0 1 0.25 0 0
CUI: C1859449
Disease: Thin long bone diaphyses
Thin long bone diaphyses 		3 0 1 0.25 0 0
CUI: C4022179
Disease: Stenosis of the medullary cavity of the long bones
Stenosis of the medullary cavity of the long bones 		3 0 1 0.25 0 0
CUI: C4022785
Disease: Iron accumulation in substantia nigra
Iron accumulation in substantia nigra 		3 0 1 0.25 0 0
CUI: C0151940
Disease: Hypocalcemic tetany
Hypocalcemic tetany 		4 0 1 0.20 0 0
CUI: C0575535
Disease: Thin clavicle
Thin clavicle 		4 0 1 0.20 0 0
CUI: C1563743
Disease: adiposity
adiposity 		4 0 1 0.20 0 0
CUI: C4024745
Disease: Aplasia/Hypoplasia affecting the eye
Aplasia/Hypoplasia affecting the eye 		4 0 1 0.20 0 0
CUI: C4025133
Disease: Cortical thickening of long bone diaphyses
Cortical thickening of long bone diaphyses 		4 0 1 0.20 0 0
CUI: C1455734
Disease: Congenital hypoparathyroidism
Congenital hypoparathyroidism 		5 0 1 0.17 0 0
CUI: C0265291
Disease: Kenny-Caffey syndrome
Kenny-Caffey syndrome 		6 0 1 0.14 0 0
CUI: C1855843
Disease: Severe intrauterine growth retardation
Severe intrauterine growth retardation 		9 0 1 1.0E-01 0 0
CUI: C0282631
Disease: Facies
Facies 		10 0 1 9.1E-02 0 0
CUI: C0426808
Disease: Long clavicle
Long clavicle 		10 0 1 9.1E-02 0 0
CUI: C0234517
Disease: Anarthria speech disorder
Anarthria speech disorder 		11 0 1 8.3E-02 0 0
CUI: C1855841
Disease: Hypocalcemic seizures
Hypocalcemic seizures 		11 0 1 8.3E-02 0 0
CUI: C0747251
Disease: Progressive spastic paraparesis
Progressive spastic paraparesis 		14 0 1 6.7E-02 0 0
CUI: C1836373
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2K
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2K 		14 0 1 6.7E-02 0 0
CUI: C1838578
Disease: Progressive encephalopathy
Progressive encephalopathy 		14 0 1 6.7E-02 0 0
CUI: C1847762
Disease: Cerebellar cyst
Cerebellar cyst 		14 0 1 6.7E-02 0 0