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: C1866703
Disease: Severe carpal ossification delay
Severe carpal ossification delay 		1 0 1 0.17 0 0
CUI: C1868616
Disease: Parastremmatic dwarfism
Parastremmatic dwarfism 		1 0 1 0.17 0 0
CUI: C2079540
Disease: Charcot-Marie-Tooth disease, Type 2C
Charcot-Marie-Tooth disease, Type 2C 		1 0 1 0.17 0 0
CUI: C2697767
Disease: Interleukin 19 Measurement
Interleukin 19 Measurement 		1 0 1 0.17 0 0
CUI: C3148833
Disease: Childhood-onset short-trunk short stature
Childhood-onset short-trunk short stature 		1 0 1 0.17 0 0
CUI: C3150755
Disease: SODIUM SERUM LEVEL QUANTITATIVE TRAIT LOCUS 1
SODIUM SERUM LEVEL QUANTITATIVE TRAIT LOCUS 1 		1 0 1 0.17 0 0
CUI: C3159322
Disease: SPONDYLOEPIPHYSEAL DYSPLASIA, MAROTEAUX TYPE
SPONDYLOEPIPHYSEAL DYSPLASIA, MAROTEAUX TYPE 		1 0 1 0.17 0 0
CUI: C3277114
Disease: Relatively short spine
Relatively short spine 		1 0 1 0.17 0 0
CUI: C3277116
Disease: Long coccyx
Long coccyx 		1 0 1 0.17 0 0
CUI: C3277119
Disease: Halberd-shaped pelvis
Halberd-shaped pelvis 		1 0 1 0.17 0 0
CUI: C3277120
Disease: Hyperplasia of the femoral trochanters
Hyperplasia of the femoral trochanters 		1 0 1 0.17 0 0
CUI: C3277123
Disease: Dumbbell-shaped metaphyses
Dumbbell-shaped metaphyses 		1 0 1 0.17 0 0
CUI: C3277126
Disease: Absent primary metaphyseal spongiosa
Absent primary metaphyseal spongiosa 		1 0 1 0.17 0 0
CUI: C3277127
Disease: Abnormal metaphyseal vascular invasion
Abnormal metaphyseal vascular invasion 		1 0 1 0.17 0 0
CUI: C3711162
Disease: Metatropic Dysplasia Type 1
Metatropic Dysplasia Type 1 		1 0 1 0.17 0 0
CUI: C3809875
Disease: VAN MALDERGEM SYNDROME 2
VAN MALDERGEM SYNDROME 2 		1 0 1 0.17 0 0
CUI: C4014939
Disease: HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 2
HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 2 		1 0 1 0.17 0 0
CUI: C4021605
Disease: Shortening of all middle phalanges of the toes
Shortening of all middle phalanges of the toes 		1 0 1 0.17 0 0
CUI: C4024611
Disease: Nonprogressive muscular atrophy
Nonprogressive muscular atrophy 		1 0 1 0.17 0 0
CUI: C4025228
Disease: Partial abdominal muscle agenesis
Partial abdominal muscle agenesis 		1 0 1 0.17 0 0
CUI: C4551950
Disease: VAN MALDERGEM SYNDROME 1
VAN MALDERGEM SYNDROME 1 		1 0 1 0.17 0 0
CUI: C0240017
Disease: Intercostal muscle weakness
Intercostal muscle weakness 		2 0 1 0.14 0 0
CUI: C0410935
Disease: Wide cranial sutures
Wide cranial sutures 		10 0 2 0.14 0 0
CUI: C0751226
Disease: Hypersomnia, Recurrent
Hypersomnia, Recurrent 		2 0 1 0.14 0 0
CUI: C1850336
Disease: Single interphalangeal crease of fifth finger
Single interphalangeal crease of fifth finger 		2 0 1 0.14 0 0