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: C3159322
Disease: SPONDYLOEPIPHYSEAL DYSPLASIA, MAROTEAUX TYPE
SPONDYLOEPIPHYSEAL DYSPLASIA, MAROTEAUX TYPE 		1 5 1 0.20 2 0.12
CUI: C3277114
Disease: Relatively short spine
Relatively short spine 		1 0 1 0.20 0 0
CUI: C3277116
Disease: Long coccyx
Long coccyx 		1 0 1 0.20 0 0
CUI: C3277119
Disease: Halberd-shaped pelvis
Halberd-shaped pelvis 		1 0 1 0.20 0 0
CUI: C3277120
Disease: Hyperplasia of the femoral trochanters
Hyperplasia of the femoral trochanters 		1 0 1 0.20 0 0
CUI: C3277123
Disease: Dumbbell-shaped metaphyses
Dumbbell-shaped metaphyses 		1 0 1 0.20 0 0
CUI: C3277126
Disease: Absent primary metaphyseal spongiosa
Absent primary metaphyseal spongiosa 		1 0 1 0.20 0 0
CUI: C3277127
Disease: Abnormal metaphyseal vascular invasion
Abnormal metaphyseal vascular invasion 		1 0 1 0.20 0 0
CUI: C3711162
Disease: Metatropic Dysplasia Type 1
Metatropic Dysplasia Type 1 		1 0 1 0.20 0 0
CUI: C4016973
Disease: NEUROPATHY, AXONAL, WITH VOCAL CORD PARESIS, AUTOSOMAL RECESSIVE
NEUROPATHY, AXONAL, WITH VOCAL CORD PARESIS, AUTOSOMAL RECESSIVE 		1 0 1 0.20 0 0
CUI: C4020736
Disease: Elevated urinary homovanillic acid
Elevated urinary homovanillic acid 		1 0 1 0.20 0 0
CUI: C4021605
Disease: Shortening of all middle phalanges of the toes
Shortening of all middle phalanges of the toes 		1 0 1 0.20 0 0
CUI: C4024611
Disease: Nonprogressive muscular atrophy
Nonprogressive muscular atrophy 		1 0 1 0.20 0 0
CUI: C4721916
Disease: HMSN Type V
HMSN Type V 		7 0 2 0.20 0 0
CUI: C2932678
Disease: Inherited Peripheral Neuropathy
Inherited Peripheral Neuropathy 		14 0 3 0.19 0 0
CUI: C1968790
Disease: Axonal degeneration/regeneration
Axonal degeneration/regeneration 		8 0 2 0.18 0 0
CUI: C0000734
Disease: Abdominal mass
Abdominal mass 		2 0 1 0.17 0 0
CUI: C0019937
Disease: Horner Syndrome
Horner Syndrome 		2 0 1 0.17 0 0
CUI: C0240017
Disease: Intercostal muscle weakness
Intercostal muscle weakness 		2 0 1 0.17 0 0
CUI: C0393541
Disease: Distal Spinal Muscular Atrophy
Distal Spinal Muscular Atrophy 		16 8 3 0.17 1 5.0E-02
CUI: C0751226
Disease: Hypersomnia, Recurrent
Hypersomnia, Recurrent 		2 0 1 0.17 0 0
CUI: C1842983
Disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2K
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2K 		2 0 1 0.17 0 0
CUI: C1843183
Disease: Charcot-Marie-Tooth disease, Type 4A, axonal form
Charcot-Marie-Tooth disease, Type 4A, axonal form 		2 0 1 0.17 0 0
CUI: C1850386
Disease: GIANT AXONAL NEUROPATHY 1
GIANT AXONAL NEUROPATHY 1 		9 0 2 0.17 0 0
CUI: C1854158
Disease: DEAFNESS, AUTOSOMAL DOMINANT 25 (disorder)
DEAFNESS, AUTOSOMAL DOMINANT 25 (disorder) 		2 0 1 0.17 0 0