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: C0432233
Disease: Trichorhinophalangeal dysplasia type I
Trichorhinophalangeal dysplasia type I 		1 0 1 0.33 0 0
CUI: C0432361
Disease: Diffuse neurofibroma
Diffuse neurofibroma 		1 0 1 0.33 0 0
CUI: C1835238
Disease: Slow-growing nails
Slow-growing nails 		1 0 1 0.33 0 0
CUI: C1860841
Disease: Swelling of proximal interphalangeal joints
Swelling of proximal interphalangeal joints 		1 0 1 0.33 0 0
CUI: C1861937
Disease: Anterior tibial bowing
Anterior tibial bowing 		1 0 1 0.33 0 0
CUI: C1865783
Disease: Pierre Robin sequence with pectus excavatum and rib and scapular anomalies
Pierre Robin sequence with pectus excavatum and rib and scapular anomalies 		1 0 1 0.33 0 0
CUI: C4021301
Disease: Ivory epiphyses of the distal phalanges of the hand
Ivory epiphyses of the distal phalanges of the hand 		1 0 1 0.33 0 0
CUI: C4023931
Disease: Cone-shaped epiphyses of the proximal phalanges of the hand
Cone-shaped epiphyses of the proximal phalanges of the hand 		1 0 1 0.33 0 0
CUI: C4024670
Disease: Poorly ossified cervical vertebrae
Poorly ossified cervical vertebrae 		1 0 1 0.33 0 0
CUI: C4025257
Disease: Shortening of all phalanges of the toes
Shortening of all phalanges of the toes 		1 0 1 0.33 0 0
CUI: C4304594
Disease: 16q24.3 microdeletion syndrome
16q24.3 microdeletion syndrome 		1 0 1 0.33 0 0
CUI: C0432239
Disease: Kyphomelic dysplasia
Kyphomelic dysplasia 		2 0 1 0.25 0 0
CUI: C1835583
Disease: Multiple long-bone exostoses
Multiple long-bone exostoses 		2 0 1 0.25 0 0
CUI: C1835764
Disease: Vertebral arch anomaly
Vertebral arch anomaly 		2 0 1 0.25 0 0
CUI: C1840362
Disease: HYPERTRICHOSIS UNIVERSALIS CONGENITA, AMBRAS TYPE (disorder)
HYPERTRICHOSIS UNIVERSALIS CONGENITA, AMBRAS TYPE (disorder) 		2 0 1 0.25 0 0
CUI: C1842462
Disease: CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL
CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL 		2 0 1 0.25 0 0
CUI: C1860825
Disease: Accelerated bone age after puberty
Accelerated bone age after puberty 		2 0 1 0.25 0 0
CUI: C1860826
Disease: Coxa Magna
Coxa Magna 		2 0 1 0.25 0 0
CUI: C1860828
Disease: Cone-shaped epiphyses of the middle phalanges of the hand
Cone-shaped epiphyses of the middle phalanges of the hand 		2 0 1 0.25 0 0
CUI: C1861226
Disease: Small abnormally formed scapulae
Small abnormally formed scapulae 		2 0 1 0.25 0 0
CUI: C4022397
Disease: Congenital malformation of the left heart
Congenital malformation of the left heart 		2 0 1 0.25 0 0
CUI: C4023171
Disease: Chin with horizontal crease
Chin with horizontal crease 		2 0 1 0.25 0 0
CUI: C0025349
Disease: Menstruation, Retrograde
Menstruation, Retrograde 		3 0 1 0.20 0 0
CUI: C0220687
Disease: KBG syndrome
KBG syndrome 		3 46 1 0.20 1 2.2E-02
CUI: C0279603
Disease: Chondroblastic osteosarcoma
Chondroblastic osteosarcoma 		3 0 1 0.20 0 0