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: C0409896
Disease: Familial chondrocalcinosis
Familial chondrocalcinosis
1 0 1 0.33 0 0
HYPOPARATHYROIDISM-RETARDATION-DYSMORPHISM SYNDROME
1 0 1 0.33 0 0
CUI: C1865639
Disease: Gracile bone dysplasia
Gracile bone dysplasia
1 0 1 0.33 0 0
CUI: C4016917
Disease: CHONDROCALCINOSIS 2, SPORADIC
CHONDROCALCINOSIS 2, SPORADIC
1 0 1 0.33 0 0
Abnormality of the medullary cavity of the long bones
1 0 1 0.33 0 0
CUI: C4025258
Disease: Polyarticular chondrocalcinosis
Polyarticular chondrocalcinosis
1 0 1 0.33 0 0
Abnormal circulating follicle-stimulating hormone level
1 0 1 0.33 0 0
ENCEPHALOPATHY, PROGRESSIVE, WITH AMYOTROPHY AND OPTIC ATROPHY
1 0 1 0.33 0 0
CUI: C1855648
Disease: KENNY-CAFFEY SYNDROME, TYPE 1
KENNY-CAFFEY SYNDROME, TYPE 1
2 0 2 0.67 0 0
CUI: C1857499
Disease: Bony paranasal bossing
Bony paranasal bossing
2 0 1 0.25 0 0
CUI: C1867289
Disease: Retinal calcification
Retinal calcification
2 0 1 0.25 0 0
CUI: C1970617
Disease: Hypoplastic spleen
Hypoplastic spleen
2 0 1 0.25 0 0
Craniometaphyseal dysplasia, autosomal recessive type
2 0 1 0.25 0 0
CUI: C3279807
Disease: CRANIOECTODERMAL DYSPLASIA 3
CRANIOECTODERMAL DYSPLASIA 3
2 0 1 0.25 0 0
CUI: C3280616
Disease: CRANIOECTODERMAL DYSPLASIA 4
CRANIOECTODERMAL DYSPLASIA 4
2 0 1 0.25 0 0
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 11
2 0 1 0.25 0 0
CUI: C4316787
Disease: Kenny-Caffey syndrome, type 2
Kenny-Caffey syndrome, type 2
2 0 2 0.67 0 0
CUI: C0265292
Disease: Schwartz-Lelek syndrome
Schwartz-Lelek syndrome
3 0 1 0.20 0 0
CUI: C0409860
Disease: Rotator cuff tear arthropathy
Rotator cuff tear arthropathy
3 0 1 0.20 0 0
CUI: C1855845
Disease: Patchy osteosclerosis
Patchy osteosclerosis
3 0 1 0.20 0 0
CUI: C1857505
Disease: Club-shaped distal femur
Club-shaped distal femur
3 0 1 0.20 0 0
CUI: C1859449
Disease: Thin long bone diaphyses
Thin long bone diaphyses
3 0 2 0.50 0 0
CUI: C4022015
Disease: Calcification of cartilage
Calcification of cartilage
3 0 1 0.20 0 0
Stenosis of the medullary cavity of the long bones
3 0 2 0.50 0 0
Iron accumulation in substantia nigra
3 0 1 0.20 0 0