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: C0001080
Disease: Achondroplasia
Achondroplasia 		1 9 1 1.00 1 0.11
CUI: C0410529
Disease: Hypochondroplasia (disorder)
Hypochondroplasia (disorder) 		1 21 1 1.00 1 4.8E-02
CUI: C1300257
Disease: Thanatophoric dysplasia, type 2
Thanatophoric dysplasia, type 2 		1 14 1 1.00 1 7.1E-02
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: C1864436
Disease: Muenke Syndrome
Muenke Syndrome 		1 7 1 1.00 1 0.14
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: C1868678
Disease: THANATOPHORIC DYSPLASIA, TYPE I (disorder)
THANATOPHORIC DYSPLASIA, TYPE I (disorder) 		1 12 1 1.00 1 8.3E-02
CUI: C2674171
Disease: Lethal short-limbed short stature
Lethal short-limbed short stature 		1 1 1 1.00 1 1.00
CUI: C2674173
Disease: Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans 		1 7 1 1.00 1 0.14
CUI: C2677099
Disease: CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS (disorder)
CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS (disorder) 		1 8 1 1.00 1 0.12
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: C0334517
Disease: Spermatocytic seminoma
Spermatocytic seminoma 		2 0 1 0.50 0 0
CUI: C0426874
Disease: Trident hand
Trident hand 		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: C0027719
Disease: Nephrosclerosis
Nephrosclerosis 		3 0 1 0.33 0 0
CUI: C0175699
Disease: Saethre-Chotzen Syndrome
Saethre-Chotzen Syndrome 		3 0 1 0.33 0 0
CUI: C0265269
Disease: Lacrimoauriculodentodigital syndrome
Lacrimoauriculodentodigital syndrome 		3 32 1 0.33 1 3.1E-02
CUI: C1861217
Disease: Small foramen magnum
Small foramen magnum 		3 0 1 0.33 0 0