Associated Disease N. genes N. variants N. of shared genes JI g p-value g N. of shared variants JI v p-value v
Trichorhinophalangeal dysplasia type I
1 0 1 1.00 0 0
CUI: C1835238
Disease: Slow-growing nails
Slow-growing nails
1 0 1 1.00 0 0
Swelling of proximal interphalangeal joints
1 0 1 1.00 0 0
Cone-shaped epiphyses of the proximal phalanges of the hand
1 0 1 1.00 0 0
CUI: C1835583
Disease: Multiple long-bone exostoses
Multiple long-bone exostoses
2 0 1 0.50 0 0
HYPERTRICHOSIS UNIVERSALIS CONGENITA, AMBRAS TYPE (disorder)
2 0 1 0.50 0 0
CUI: C1860825
Disease: Accelerated bone age after puberty
Accelerated bone age after puberty
2 0 1 0.50 0 0
CUI: C1860826
Disease: Coxa Magna
Coxa Magna
2 0 1 0.50 0 0
Cone-shaped epiphyses of the middle phalanges of the hand
2 0 1 0.50 0 0
CUI: C4023171
Disease: Chin with horizontal crease
Chin with horizontal crease
2 0 1 0.50 0 0
CUI: C1853482
Disease: Pear-shaped nose
Pear-shaped nose
3 0 1 0.33 0 0
Shortening of all phalanges of fingers
3 0 1 0.33 0 0
CUI: C4025148
Disease: Hyperextensible thumb
Hyperextensible thumb
3 0 1 0.33 0 0
Tapering pointed ends of distal finger phalanges
4 0 1 0.25 0 0
CUI: C0344511
Disease: Atresia of nasolacrimal duct
Atresia of nasolacrimal duct
5 0 1 0.20 0 0
CUI: C3151495
Disease: Long upper lip
Long upper lip
5 0 1 0.20 0 0
CUI: C0265255
Disease: Trichorhinophalangeal syndrome
Trichorhinophalangeal syndrome
6 0 1 0.17 0 0
CUI: C1844891
Disease: Ulnar deviation of the 2nd finger
Ulnar deviation of the 2nd finger
6 0 1 0.17 0 0
Trichorhinophalangeal Syndrome, Type III
6 0 1 0.17 0 0
CUI: C3553517
Disease: CORNELIA DE LANGE SYNDROME 4
CORNELIA DE LANGE SYNDROME 4
6 0 1 0.17 0 0
CUI: C0281328
Disease: Adult Subependymoma
Adult Subependymoma
7 0 1 0.14 0 0
CUI: C1844709
Disease: Radial deviation of the 2nd finger
Radial deviation of the 2nd finger
7 0 1 0.14 0 0
CUI: C0521648
Disease: Neonatal respiratory failure
Neonatal respiratory failure
8 0 1 0.12 0 0
CUI: C0240182
Disease: Leukonychia
Leukonychia
9 0 1 0.11 0 0
CUI: C0423823
Disease: Thin nails
Thin nails
10 0 1 1.0E-01 0 0