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: C1855648
Disease: KENNY-CAFFEY SYNDROME, TYPE 1
KENNY-CAFFEY SYNDROME, TYPE 1 		2 0 2 1.00 0 0
CUI: C1855657
Disease: Calvarial osteosclerosis
Calvarial osteosclerosis 		3 0 2 0.67 0 0
CUI: C1859449
Disease: Thin long bone diaphyses
Thin long bone diaphyses 		3 0 2 0.67 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 2 0.67 0 0
CUI: C0151940
Disease: Hypocalcemic tetany
Hypocalcemic tetany 		4 0 2 0.50 0 0
CUI: C1855840
Disease: HYPOPARATHYROIDISM-RETARDATION-DYSMORPHISM SYNDROME
HYPOPARATHYROIDISM-RETARDATION-DYSMORPHISM SYNDROME 		1 0 1 0.50 0 0
CUI: C1865639
Disease: Gracile bone dysplasia
Gracile bone dysplasia 		1 5 1 0.50 1 0.17
CUI: C4021027
Disease: Abnormality of the medullary cavity of the long bones
Abnormality of the medullary cavity of the long bones 		1 0 1 0.50 0 0
CUI: C4025133
Disease: Cortical thickening of long bone diaphyses
Cortical thickening of long bone diaphyses 		4 0 2 0.50 0 0
CUI: C4072891
Disease: Abnormal circulating follicle-stimulating hormone level
Abnormal circulating follicle-stimulating hormone level 		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: C1455734
Disease: Congenital hypoparathyroidism
Congenital hypoparathyroidism 		5 0 2 0.40 0 0
CUI: C0265291
Disease: Kenny-Caffey syndrome
Kenny-Caffey syndrome 		6 0 2 0.33 0 0
CUI: C1867289
Disease: Retinal calcification
Retinal calcification 		2 0 1 0.33 0 0
CUI: C1970617
Disease: Hypoplastic spleen
Hypoplastic spleen 		2 0 1 0.33 0 0
CUI: C3554638
Disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 11
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 11 		2 0 1 0.33 0 0
CUI: C1855845
Disease: Patchy osteosclerosis
Patchy osteosclerosis 		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: 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: C1854417
Disease: Postnatal macrocephaly
Postnatal macrocephaly 		4 0 1 0.20 0 0
CUI: C4024709
Disease: Transient hypophosphatemia
Transient hypophosphatemia 		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: C1855841
Disease: Hypocalcemic seizures
Hypocalcemic seizures 		11 0 2 0.18 0 0
CUI: C0424939
Disease: Learning difficulties
Learning difficulties 		6 6 1 0.14 1 0.14