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: C1867487
Disease: Childhood onset short-limb short stature
Childhood onset short-limb short stature 		2 0 2 0.50 0 0
CUI: C0152091
Disease: Osteochondropathy
Osteochondropathy 		1 0 1 0.25 0 0
CUI: C0342826
Disease: 3-Beta-hydroxy-delta-5-C27-steroid dehydrogenase deficiency
3-Beta-hydroxy-delta-5-C27-steroid dehydrogenase deficiency 		1 0 1 0.25 0 0
CUI: C0432125
Disease: Bicoronal craniosynostosis
Bicoronal craniosynostosis 		1 0 1 0.25 0 0
CUI: C0432281
Disease: Pseudochondroplasia
Pseudochondroplasia 		1 0 1 0.25 0 0
CUI: C1096121
Disease: Skeleton dysplasia
Skeleton dysplasia 		1 0 1 0.25 0 0
CUI: C1300256
Disease: Thanatophoric dysplasia, type 1
Thanatophoric dysplasia, type 1 		1 0 1 0.25 0 0
CUI: C1838280
Disease: Epiphyseal dysplasia, multiple, 1
Epiphyseal dysplasia, multiple, 1 		1 0 1 0.25 0 0
CUI: C1851152
Disease: SKELETAL DYSPLASIA WITH ACANTHOSIS NIGRICANS
SKELETAL DYSPLASIA WITH ACANTHOSIS NIGRICANS 		1 0 1 0.25 0 0
CUI: C1856637
Disease: Spatulate ribs
Spatulate ribs 		1 0 1 0.25 0 0
CUI: C1861213
Disease: Wide-cupped costochondral junctions
Wide-cupped costochondral junctions 		1 0 1 0.25 0 0
CUI: C1863423
Disease: Lumbar kyphosis in infancy
Lumbar kyphosis in infancy 		1 0 1 0.25 0 0
CUI: C1864852
Disease: CATSHL syndrome
CATSHL syndrome 		1 0 1 0.25 0 0
CUI: C1864854
Disease: Broad femoral metaphyses
Broad femoral metaphyses 		1 0 1 0.25 0 0
CUI: C1867494
Disease: Fragmented, irregular epiphyses
Fragmented, irregular epiphyses 		1 0 1 0.25 0 0
CUI: C2674171
Disease: Lethal short-limbed short stature
Lethal short-limbed short stature 		1 0 1 0.25 0 0
CUI: C2677099
Disease: CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS (disorder)
CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS (disorder) 		1 0 1 0.25 0 0
CUI: C2930792
Disease: Familial acanthosis nigricans
Familial acanthosis nigricans 		1 0 1 0.25 0 0
CUI: C2930793
Disease: Achondroplastic dwarfism
Achondroplastic dwarfism 		1 0 1 0.25 0 0
CUI: C2931649
Disease: Larsen syndrome, recessive type
Larsen syndrome, recessive type 		1 0 1 0.25 0 0
CUI: C3272759
Disease: Brain Development Abnormality
Brain Development Abnormality 		1 0 1 0.25 0 0
CUI: C3809470
Disease: EPIDERMOLYSIS BULLOSA SIMPLEX, AUTOSOMAL RECESSIVE 2
EPIDERMOLYSIS BULLOSA SIMPLEX, AUTOSOMAL RECESSIVE 2 		1 0 1 0.25 0 0
CUI: C4016660
Disease: EPIPHYSEAL DYSPLASIA, MULTIPLE, 1, SEVERE
EPIPHYSEAL DYSPLASIA, MULTIPLE, 1, SEVERE 		1 0 1 0.25 0 0
CUI: C4020971
Disease: Abnormality of lower limb joint
Abnormality of lower limb joint 		1 0 1 0.25 0 0
CUI: C4021305
Disease: Small epiphyses of the phalanges of the hand
Small epiphyses of the phalanges of the hand 		1 0 1 0.25 0 0