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: C0152091
Disease: Osteochondropathy
Osteochondropathy 		1 0 1 1.00 0 0
CUI: C0432125
Disease: Bicoronal craniosynostosis
Bicoronal craniosynostosis 		1 0 1 1.00 0 0
CUI: C1300256
Disease: Thanatophoric dysplasia, type 1
Thanatophoric dysplasia, type 1 		1 4 1 1.00 1 0.25
CUI: C1861213
Disease: Wide-cupped costochondral junctions
Wide-cupped costochondral junctions 		1 0 1 1.00 0 0
CUI: C1863423
Disease: Lumbar kyphosis in infancy
Lumbar kyphosis in infancy 		1 0 1 1.00 0 0
CUI: C1864852
Disease: CATSHL syndrome
CATSHL syndrome 		1 10 1 1.00 1 1.0E-01
CUI: C1864854
Disease: Broad femoral metaphyses
Broad femoral metaphyses 		1 0 1 1.00 0 0
CUI: C2674171
Disease: Lethal short-limbed short stature
Lethal short-limbed short stature 		1 1 1 1.00 1 1.00
CUI: C2677099
Disease: CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS (disorder)
CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS (disorder) 		1 8 1 1.00 1 0.12
CUI: C2930792
Disease: Familial acanthosis nigricans
Familial acanthosis nigricans 		1 0 1 1.00 0 0
CUI: C2930793
Disease: Achondroplastic dwarfism
Achondroplastic dwarfism 		1 0 1 1.00 0 0
CUI: C3272759
Disease: Brain Development Abnormality
Brain Development Abnormality 		1 0 1 1.00 0 0
CUI: C4020971
Disease: Abnormality of lower limb joint
Abnormality of lower limb joint 		1 0 1 1.00 0 0
CUI: C4021625
Disease: Spinal stenosis with reduced interpedicular distance
Spinal stenosis with reduced interpedicular distance 		1 0 1 1.00 0 0
CUI: C4025083
Disease: Thimble-shaped middle phalanges of hand
Thimble-shaped middle phalanges of hand 		1 0 1 1.00 0 0
CUI: C4225629
Disease: SEVERE ACHONDRODYSPLASIA WITH DEVELOPMENTAL DELAY AND ACANTHOSIS NIGRICANS
SEVERE ACHONDRODYSPLASIA WITH DEVELOPMENTAL DELAY AND ACANTHOSIS NIGRICANS 		1 0 1 1.00 0 0
CUI: C0011645
Disease: Dermatosis Papulosa Nigra
Dermatosis Papulosa Nigra 		2 0 1 0.50 0 0
CUI: C0302894
Disease: Stucco keratosis
Stucco keratosis 		2 0 1 0.50 0 0
CUI: C0426874
Disease: Trident hand
Trident hand 		2 0 1 0.50 0 0
CUI: C1334282
Disease: Inverted urothelial papilloma
Inverted urothelial papilloma 		2 0 1 0.50 0 0
CUI: C1450010
Disease: Plagiocephaly, Nonsynostotic
Plagiocephaly, Nonsynostotic 		2 0 1 0.50 0 0
CUI: C1860048
Disease: Temporal bossing
Temporal bossing 		2 0 1 0.50 0 0
CUI: C1861226
Disease: Small abnormally formed scapulae
Small abnormally formed scapulae 		2 0 1 0.50 0 0
CUI: C1867487
Disease: Childhood onset short-limb short stature
Childhood onset short-limb short stature 		2 0 1 0.50 0 0
CUI: C1883722
Disease: Stage 0a Bladder Urothelial Carcinoma AJCC v6 and v7
Stage 0a Bladder Urothelial Carcinoma AJCC v6 and v7 		2 0 1 0.50 0 0