Source: INFERRED ×
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: C3278024
Disease: Enlarged cerebellum
Enlarged cerebellum 		3 0 2 0.67 0 0
CUI: C0001080
Disease: Achondroplasia
Achondroplasia 		1 0 1 0.50 0 0
CUI: C0033141
Disease: Cardiomyopathies, Primary
Cardiomyopathies, Primary 		1 0 1 0.50 0 0
CUI: C0343114
Disease: Woolly hair nevus
Woolly hair nevus 		1 0 1 0.50 0 0
CUI: C0410529
Disease: Hypochondroplasia (disorder)
Hypochondroplasia (disorder) 		1 21 1 0.50 1 4.5E-02
CUI: C0587248
Disease: Costello syndrome (disorder)
Costello syndrome (disorder) 		1 0 1 0.50 0 0
CUI: C1300257
Disease: Thanatophoric dysplasia, type 2
Thanatophoric dysplasia, type 2 		1 14 1 0.50 1 6.7E-02
CUI: C1851152
Disease: SKELETAL DYSPLASIA WITH ACANTHOSIS NIGRICANS
SKELETAL DYSPLASIA WITH ACANTHOSIS NIGRICANS 		1 0 1 0.50 0 0
CUI: C1861213
Disease: Wide-cupped costochondral junctions
Wide-cupped costochondral junctions 		1 0 1 0.50 0 0
CUI: C1863423
Disease: Lumbar kyphosis in infancy
Lumbar kyphosis in infancy 		1 0 1 0.50 0 0
CUI: C1864436
Disease: Muenke Syndrome
Muenke Syndrome 		1 0 1 0.50 0 0
CUI: C1864852
Disease: CATSHL syndrome
CATSHL syndrome 		1 0 1 0.50 0 0
CUI: C1864854
Disease: Broad femoral metaphyses
Broad femoral metaphyses 		1 0 1 0.50 0 0
CUI: C1868678
Disease: THANATOPHORIC DYSPLASIA, TYPE I (disorder)
THANATOPHORIC DYSPLASIA, TYPE I (disorder) 		1 0 1 0.50 0 0
CUI: C1968782
Disease: MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES
MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES 		1 0 1 0.50 0 0
CUI: C2674171
Disease: Lethal short-limbed short stature
Lethal short-limbed short stature 		1 0 1 0.50 0 0
CUI: C2674173
Disease: Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans 		1 0 1 0.50 0 0
CUI: C2677099
Disease: CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS (disorder)
CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS (disorder) 		1 0 1 0.50 0 0
CUI: C3277679
Disease: EPIDERMAL NEVUS WITH UROTHELIAL CANCER, SOMATIC
EPIDERMAL NEVUS WITH UROTHELIAL CANCER, SOMATIC 		1 0 1 0.50 0 0
CUI: C3808548
Disease: Poor respiratory effort
Poor respiratory effort 		1 0 1 0.50 0 0
CUI: C4016398
Disease: COSTELLO SYNDROME, SEVERE
COSTELLO SYNDROME, SEVERE 		1 0 1 0.50 0 0
CUI: C4020971
Disease: Abnormality of lower limb joint
Abnormality of lower limb joint 		1 0 1 0.50 0 0
CUI: C4021625
Disease: Spinal stenosis with reduced interpedicular distance
Spinal stenosis with reduced interpedicular distance 		1 0 1 0.50 0 0
CUI: C4025083
Disease: Thimble-shaped middle phalanges of hand
Thimble-shaped middle phalanges of hand 		1 0 1 0.50 0 0
CUI: C4225629
Disease: SEVERE ACHONDRODYSPLASIA WITH DEVELOPMENTAL DELAY AND ACANTHOSIS NIGRICANS
SEVERE ACHONDRODYSPLASIA WITH DEVELOPMENTAL DELAY AND ACANTHOSIS NIGRICANS 		1 0 1 0.50 0 0